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1. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author: Tim Niehues, Catherine Waruiru, Conleth Feighery, Uwe Schauer, Virginie Courteille, Kai Lehmberg, Ingo Müller, I. Esteves, Henner Morbach, Michael Borte, Patrick Hundsdoerfer, Klaus Schwarz, Ewelina Gowin, Alessandro Aiuti, Andreas Holbro, Federica Barzaghi, João Farela Neves, Dagmar Graf, Hannah Tamary, Veneta Milenova, Benedikt Boetticher, Eleonora Gambineri, Vera Goda, Alia Eldash, Jan-Christian Wasmuth, Fabio Candotti, Svetlana O. Sharapova, Markus Metzler, Juergen Brunner, Anna Hilfanova, Brindusa Ruxandra Capilna, Pere Soler-Palacín, Arnau Antolí, Horst von Bernuth, Vassilios Lougaris, Maria Carrabba, Bernd H. Belohradsky, Julian Thalhammer, Nathalie de Vergnes, Peter Olbrich, Peter Kopač, Leif G. Hanitsch, Alexandra Nieters, Filomeen Haerynck, Juliana Gabzdilova, Sezin Aydemir, Rabab El Hawary, Patrick F.K. Yong, Maria Giovanna Danieli, Alberto Tommasini, Sandra Steinmann, Ulrich Baumann, Figen Dogu, Elisabeth Förster-Waldl, Carolina Marasco, Donato Amodio, Lorenzo Lodi, Xavier Solanich, Caterina Cancrini, Brigita Sitkauskiene, Torsten Witte, Clementina Vanessa, Nima Rezaei, Jean-Christophe Goffard, Kirsten Wittke, Emmanouil Liatsis, Helen Baxendale, Susana L. Silva, Bodo Grimbacher, Henrike Ritterbusch, Evangelia Farmaki, Safa Meshaal, Sujal Ghosh, Larysa Kostyuchenko, David Edgar, Simone Cesaro, R Zeuner, Nerea Salmón Rodríguez, Isabella Quinti, Stephan Ehl, Pauline Brosselin, Joerg C. Henes, Pilar Llobet Agulló, Rosa Maria Dellepiane, Andrea Meinhardt, Marina Kojić, Georgios Sogkas, Stephan Borte, Catharina Schuetz, Suheyla Ocak, Karin Marschall, Lukas M. Gasteiger, Stefan Raffac, Sofia Tantou, Sadia Noorani, Matthaios Speletas, Philippe Randrianomenjanahary, Ursula Holzer, Ayca Kiykim, Johannes G. Liese, Angelo Vacca, Gisela Fecker, Ekrem Unal, Koen J. van Aerde, Alba Parra-Martínez, Kaan Boztug, Sophie Stiehler, Sybille Landwehr-Kenzel, Claudio Pignata, Jennifer Neubert, Janine Reichenbach, Shahnaz Parvin, Sarah Goddard, Andrea Schroll, Dirk Holzinger, Asghar Aghamohammadi, Hassan Abolhassani, Johannes Trück, Estela Paz-Artal, Shereen M. Reda, Anna Shcherbina, Maria Raptaki, Jaroslava Orosova, Beata Wolska-Kuśnierz, Tessa Kerre, Gerrit Ahrenstorf, Ben Zion Garty, Dirk Foell, Benjamin Becker, Ulrike F. Demel, Androniki Kapousouzi, Abraham Rutgers, Klaus Warnatz, Gemma Rocamora Blanch, Stephan Rusch, Luis M. Allende, Dalia Abd Elaziz, Safa Baris, Jorisvan Montfrans, Dominik T. Schneider, Raphael Scheible, Juana Gil-Herrera, Gerhard Kindle, Annarosa Soresina, Giovanna Fabio, Uwe Wintergerst, Emilia Faria, Maria Fasshauer, Silvia Ricci, Aisha Elmarsafy, Barbara Pietrucha, Carsten Speckmann, Nizar Mahlaoui, Ulrich Heininger, Isabelle Meyts, Matthew Buckland, Efimia Papadopoulou-Alataki, Robin Kobbe, A Herwadkar, Sebastian F. N. Bode, Ali Sobh, László Maródi, Baldassarre Martire, Chiara Azzari, Maximilian Heeg, Katja Masjosthusmann, Michael H. Albert, Matteo Chinello, Juan Luis Santos-Pérez, Aarnoud Huissoon, Tanya I. Coulter, Hendrik Schulze-Koops, Norbert Graf, Radwa Alkady, Jolanta Bernatoniene, Seraina Prader, Alenka Gagro, Joachim Roesler, Taco W. Kuijpers, Ewa Więsik-Szewczyk, Maria Elena Maccari, Conrad Ferdinand Lippert, Miriam González-Amores, Johannes Dirks, Daniel E Pleguezuelo, Christof M. Kramm, Anders Fasth, Volker Schuster, Olov Ekwall, Nikolaus Rieber, Javier Carbone, Petra Kaiser-Labusch, Diana Ernst, Lucia Augusta Baselli, Luis Ignacio Gonzalez-Granado, Maria Kanariou, Stefanie S. V. Henriet, Sigune Goldacker, Kerstin Felgentreff, Oana Joean, Fine Roosens, Fabian Hauck, Eva C. Schwaneck, Milos Jesenak, Manfred Hoenig, Lenka Kapustova, Christoph Boesecke, Alain Fischer, Sara Pereira da Silva, Julia Körholz, Ansgar Schulz, Carolynne Schwarze-Zander, Mikko Seppänen, Nermeen Galal, Nora Naumann-Bartsch, Tomaz Garcez, Peter Ciznar, Klara M. Posfay-Barbe, Zelimir Pavle Eric, Reinhold E. Schmidt, Hermann J. Girschick, Sabine Heine, Anika-Kerstin Biegner, Annick A. J. M. van de Ven, Stefan Schreiber, J. Merlijn van den Berg, Nurit Assia Batzir, Alexandra Jablonka, Kim Stol, Gregor Dückers, Antonios G.A. Kolios, Ioannis Kakkas, Christian Klemann, Marina N. Guseva, Sofia Grigoriadou, Elif Karakoc-Aydiner, Antonio Marzollo, Peter D. Arkwright, Urs C. Steiner, Sara Sebnem Kilic, Romina Dieli-Crimi, Gergely Kriván, Monika Sparber-Sauer, Marco Cazzaniga, Fulvio Porta, Paraskevi Maggina, Tomas Milota, Robbert G. M. Bredius, Martine Pergent, Klaus Tenbrock, Jana Pachlopnik Schmid, Florentia Dimitriou, Cathal Laurence Steele, Helen Bourne, Anna Bobcakova, Gerd Horneff, Judith Potjewijd, Marc Schmalzing, Tobias Ankermann, Paul Ryan, Oksana Boyarchuk, Necil Kutukculer, Carl Friedrich Classen, Zita Chovancová, Moira Thomas, Cinzia Milito, Michaela Bitzenhofer-Grüber, Faranaz Atschekzei, Eva Hlaváčková, Viviana Moschese, Julie Smet, Hans-Hartmut Peter, Carla Teixeira, Sabine M El-Helou, Suzanne de Kruijf Bazen, Helmut Wittkowski, Donate Jakoby, Marina Garcia-Prat, Esther de Vries, Richard Herriot, Sven Kracker, Alessandro Plebani, Lisa Göschl, Laura Hora Marques, Anna Sediva, Jiri Litzman, Mark M. Gompels, Renate Krüger, Şefika İlknur Kökçü Karadağ, Nadine Binder, Anna Szaflarska, Peter Jandus, Lisa Ibberson, Johann Greil, Ulf Schulze-Sturm, Mehtap Sirin, Aydan Ikinciogullari, Edyta Heropolitańska-Pliszka, Michael E. Weiss, Alla Skapenko, Lukas Wisgrill, Hana Alachkar, Uta Behrends, Silvia Sánchez-Ramón, Maria N. Hatzistilianou, Otilia Petrovicova, Darko Richter, Zoreh Nademi, Jürgen K. Rockstroh, Sohilla Lotfy, Markus G. Seidel, Timothy Ronan Leahy, Audra Blažienė, Translational Immunology Groningen (TRIGR), Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, University of Zurich, Ehl, Stephan, Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppanen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S., Boztug, K., Brunner, J., Demel, U. F., Forster-Waldl, E., Gasteiger, L. M., Goschl, L., Kojic, M., Schroll, A., Seidel, M. G., Wintergerst, U., Wisgrill, L., Sharapova, S. O., Goffard, J. -C., Kerre, T., Meyts, I., Roosens, F., Smet, J., Haerynck, F., Eric, Z. P., Milenova, V., Gagro, A., Richter, D., Chovancova, Z., Hlavackova, E., Litzman, J., Milota, T., Sediva, A., Elaziz, D. A., Alkady, R. S., El Sayed El Hawary, R., Eldash, A. S., Galal, N., Lotfy, S., Meshaal, S. S., Reda, S. M., Sobh, A., Elmarsafy, A., Brosselin, P., Courteille, V., De Vergnes, N., Kracker, S., Pergent, M., Randrianomenjanahary, P., Ahrenstorf, G., Albert, M. H., Ankermann, T., Atschekzei, F., Baumann, U., Becker, B. C., Behrends, U., Belohradsky, B. H., Biegner, A. -K., Binder, N., Bode, S. F. N., Boesecke, C., Boetticher, B., Borte, M., Borte, S., Classen, C. F., Dirks, J., Duckers, G., El-Helou, S., Ernst, D., Fasshauer, M., Fecker, G., Felgentreff, K., Foell, D., Ghosh, S., Girschick, H. J., Goldacker, S., Graf, N., Graf, D., Greil, J., Hanitsch, L. G., Hauck, F., Heeg, M., Heine, S. I., Henes, J. C., Hoenig, M., Holzer, U., Holzinger, D., Horneff, G., Hundsdoerfer, P., Jablonka, A., Jakoby, D., Joean, O., Kaiser-Labusch, P., Klemann, C., Kobbe, R., Korholz, J., Kramm, C. M., Kruger, R., Landwehr-Kenzel, S., Lehmberg, K., Liese, J. G., Lippert, C. F., Maccari, M. E., Masjosthusmann, K., Meinhardt, A., Metzler, M., Morbach, H., Muller, I., Naumann-Bartsch, N., Neubert, J., Niehues, T., Peter, H. -H., Rieber, N., Ritterbusch, H., Rockstroh, J. K., Roesler, J., Schauer, U., Scheible, R., Schmalzing, M., Schmidt, R. E., Schneider, D. T., Schreiber, S., Schuetz, C., Schulz, A., Schulze-Koops, H., Schulze-Sturm, U., Schuster, V., Schwaneck, E. C., Schwarz, K., Schwarze-Zander, C., Sirin, M., Skapenko, A., Sogkas, G., Sparber-Sauer, M., Speckmann, C., Steinmann, S., Stiehler, S., Tenbrock, K., von Bernuth, H., Warnatz, K., Wasmuth, J. -C., Weiss, M., Witte, T., Wittke, K., Wittkowski, H., Zeuner, R. A., Farmaki, E., Hatzistilianou, M. N., Kakkas, I., Kanariou, M. G., Kapousouzi, A., Liatsis, E., Maggina, P., Papadopoulou-Alataki, E., Raptaki, M., Speletas, M., Tantou, S., Goda, V., Krivan, G., Marodi, L., Abolhassani, H., Aghamohammadi, A., Rezaei, N., Feighery, C., Leahy, T. R., Ryan, P., Batzir, N. A., Garty, B. Z., Tamary, H., Aiuti, A., Amodio, D., Azzari, C., Barzaghi, F., Baselli, L. A., Cancrini, C., Carrabba, M., Cazzaniga, M., Cesaro, S., Chinello, M., Danieli, M. G., Dellepiane, R. M., Fabio, G., Gambineri, E., Lodi, L., Lougaris, V., Marasco, C., Martire, B., Marzollo, A., Milito, C., Moschese, V., Pignata, C., Plebani, A., Porta, F., Quinti, I., Ricci, S., Soresina, A., Tommasini, A., Vacca, A., Vanessa, C., Blaziene, A., Sitkauskiene, B., Gowin, E., Heropolitanska-Pliszka, E., Pietrucha, B., Szaflarska, A., Wiesik-Szewczyk, E., Wolska-Kusnierz, B., Esteves, I., Faria, E., Marques, L. H., Neves, J. F., Silva, S. L., Teixeira, C., Pereira da Silva, S., Capilna, B. R., Guseva, M. N., Shcherbina, A., Bobcakova, A., Ciznar, P., Gabzdilova, J., Jesenak, M., Kapustova, L., Orosova, J., Petrovicova, O., Raffac, S., Kopac, P., Allende, L. M., Antoli, A., Blanch, G. R., Carbone, J., Dieli-Crimi, R., Garcia-Prat, M., Gil-Herrera, J., Gonzalez-Granado, L. I., Agullo, P. L., Olbrich, P., Parra-Martinez, A., Paz-Artal, E., Pleguezuelo, D. E., Rodriguez, N. S., Sanchez-Ramon, S., Santos-Perez, J. L., Solanich, X., Soler-Palacin, P., Gonzalez-Amores, M., Ekwall, O., Fasth, A., Bitzenhofer-Gruber, M., Candotti, F., Dimitriou, F., Heininger, U., Holbro, A., Jandus, P., Kolios, A. G. A., Marschall, K., Schmid, J. P., Posfay-Barbe, K. M., Prader, S., Reichenbach, J., Steiner, U. C., Truck, J., Bredius, R. G., de Kruijf- Bazen, S., de Vries, E., Henriet, S. S. V., Kuijpers, T. W., Potjewijd, J., Rutgers, A., Stol, K., van Aerde, K. J., Van den Berg, J. M., van de Ven, A. A. J. M., Montfrans, J., Aydemir, S., Baris, S., Dogu, F., Ikinciogullari, A., Karakoc-Aydiner, E., Kilic, S. S., Kiykim, A., Kokcu Karadag, S. I., Kutukculer, N., Ocak, S., Unal, E., Boyarchuk, O., Hilfanova, A., Kostyuchenko, L. V., Alachkar, H., Arkwright, P. D., Baxendale, H. E., Bernatoniene, J., Coulter, T. I., Garcez, T., Goddard, S., Gompels, M. M., Grigoriadou, S., Herriot, R., Herwadkar, A., Huissoon, A., Ibberson, L., Nademi, Z., Noorani, S., Parvin, S., Steele, C. L., Thomas, M., Waruiru, C., Yong, P. F. K., and Bourne, H.
Subjects: 0301 basic medicine, Male, Pediatrics, syndromic, Sex Factor, Disease, registry, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Primary Immunodeficiency Disease, inborn error of immunity, Immunology and Allergy, warning signs, Age Factor, Registries, Family history, presenting symptom, Child, Primary immunodeficiency, Granuloma, autoimmune, immune dysregulation, inflammatory, Adult, Autoimmune Diseases, Female, Humans, Infections, Lymphoproliferative Disorders, Middle Aged, Primary Immunodeficiency Diseases, Sex Factors, Age Factors, 10177 Dermatology Clinic, Infections/epidemiology, 3. Good health, Settore MED/02, Warning signs, Lymphoproliferative Disorder, 2723 Immunology and Allergy, Infection, Human, medicine.medical_specialty, Immunology, 610 Medicine & health, Malignancy, primary immunodeficiency, Autoimmune Disease, 03 medical and health sciences, Immunity, Autoimmune Diseases/epidemiology, medicine, 2403 Immunology, business.industry, warning sign, Common variable immunodeficiency, Granuloma/epidemiology, Immune dysregulation, medicine.disease, Primary Immunodeficiency Diseases/epidemiology, 030104 developmental biology, Lymphoproliferative Disorders/epidemiology, Cohort Studie, business, 030215 immunology
Abstract: BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.OBJECTIVE: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts.METHODS: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered.RESULTS: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years.CONCLUSIONS: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
Published: 2021

2. Polycystic Ovarian Morphology in Normocyclic Non-hyperandrogenic Adolescents

Author: F. Melis, Alessandra Gambineri, Elena Canu, Laura Casula, Anna Maria Fulghesu, Fulghesu A.M., Canu E., Casula L., Melis F., and Gambineri A.
Subjects: Anti-Mullerian Hormone, medicine.medical_specialty, Adolescent, Population, Ovary, Follicular phase, Humans, Medicine, education, Testosterone, Ultrasonography, Ovarian morphology, Cross-Sectional Studie, Gynecology, education.field_of_study, Polycystic ovarian morphology, business.industry, Obstetrics and Gynecology, General Medicine, Adolescence, Cross-Sectional Studies, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Population study, Female, business, Luteinizing hormone, Body mass index, Stroma/total area ratio, Human, Polycystic Ovary Syndrome, Blood sampling
Abstract: Objective To understand whether polycystic ovarian morphology (PCOM) represents a transient phase, and whether an increased stroma could help to characterize the phenotype of the ovary in adolescence. Methods Cross-sectional population-based study on high-school students in Cagliari, Italy. The study population consisted of 257 normocyclic non-hyperandrogenic girls selected from a sample of 600 healthy volunteers recruited from 2012 to 2016. Clinical examination, medical history, blood sampling, and pelvic ultrasound (US) were performed. Postmenarchal years and body mass index (BMI) were estimated. Follicle-stimulating hormone (FSH), luteinizing hormone (LH), 17β estradiol (E2), total testosterone (tT), delta-4-androstenedione (A), and 17-hydroxyprogesterone (17-OHP) were measured. Ovarian volume, follicular number per section (FNPS), and S/A ratio were measured by pelvic US. Results Following the Rotterdam guidelines for US PCOS diagnosis and setting the normal S/A ratio at ≤0.3, subjects were categorized into 3 groups: (1) normal ovarian morphology (NOM; n = 154, 60%); (2) polycystic ovarian morphology (PCOM) with normal S/A ratio (PCOM-NS; n = 70, 27%); and (3) PCOM with increased S/A ratio (PCOM-IS; n = 33, 13%). The NOM group had more postmenarchal years and a lower LH than both the PCOM groups, and lower A and tT than the PCOM-IS group. The PCOM-NS group had fewer postmenarchal years and lower A than the PCOM-IS group. Interestingly, unlike NOM and PCOM-NS, the prevalence of PCOM-IS remained constant among the 3 phases of postmenarchal age (10% vs 16% vs 15%, P = not significant). Conclusion This study demonstrates that PCOM can be a transient condition, whereas a high S/A ratio is a stable US alteration present from early postmenarchal years.
Published: 2021
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3. Prevalence and ultrasound patterns of testicular adrenal rest tumors in adults with congenital adrenal hyperplasia

Author: Davide Farina, Alessandra Gambineri, Caterina Gaudiano, Beniamino Corcioni, Uberto Pagotto, Rita Golfieri, Domenico Ricciardi, Alessandra Cassio, Rita Ortolano, Giovanni Marasco, Federico Baronio, Matteo Renzulli, Corcioni B., Renzulli M., Marasco G., Baronio F., Gambineri A., Ricciardi D., Ortolano R., Farina D., Gaudiano C., Cassio A., Pagotto U., and Golfieri R.
Subjects: medicine.medical_specialty, Urology, Age at diagnosis, 030209 endocrinology & metabolism, Gastroenterology, Lesion, Testicular adrenal rest tumors (TARTs), 03 medical and health sciences, 0302 clinical medicine, Congenital adrenal hyperplasia (CAH), Ultrasonography (US), Internal medicine, medicine, In patient, Congenital adrenal hyperplasia, 030219 obstetrics & reproductive medicine, Adult patients, business.industry, Ultrasound, Adrenal rest, medicine.disease, Reproductive Medicine, Male patient, Original Article, medicine.symptom, business
Abstract: Background: Testicular adrenal rest tumors (TARTs) are benign neoplasms affecting patients with congenital adrenal hyperplasia (CAH). The prevalence of TART in adult patients with CAH is not well known. Ultrasonography (US) is the main tool for diagnosing TART and the role of contrast-enhanced US (CEUS) is never investigated. The aim of this study was to evaluate the TART prevalence in adults with CAH, by stratifying patients according to disease phenotype and assessing the diagnostic performance of US, color Doppler (CD) US and CEUS. Methods: Male patients >16 years old with certain diagnosis of CAH who underwent US for TARTs, between December 2015 and September 2019 were prospectively enrolled. The control group included patients without CAH affected by testicular lesions at US other than TARTs. Results: TARTs were identified in 16 of 52 patients (31%), of whom 15 (93.8%) displayed the salt-wasting (SW) form (P
Published: 2021
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4. Impact of age, body weight and metabolic risk factors on steroid reference intervals in men

Author: Uberto Pagotto, Margherita Baccini, Alessia Fazzini, Flaminia Fanelli, Marco Mezzullo, Alessandra Gambineri, Carla Pelusi, Valentina Vicennati, Guido Di Dalmazi, Andrea Repaci, Mezzullo M., Di Dalmazi G., Fazzini A., Baccini M., Repaci A., Gambineri A., Vicennati V., Pelusi C., Pagotto U., and Fanelli F.
Subjects: Male, Hydrocortisone, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Body Mass Index, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Risk Factors, Tandem Mass Spectrometry, Corticosterone, Age Factor, Multivariate Analysi, Testosterone, 2. Zero hunger, 17-alpha-Hydroxyprogesterone, Age Factors, Dihydrotestosterone, General Medicine, 030220 oncology & carcinogenesis, Human, medicine.drug, medicine.medical_specialty, Cortodoxone, Dehydroepiandrosterone, 030209 endocrinology & metabolism, Estrone, 03 medical and health sciences, Insulin resistance, Internal medicine, medicine, Humans, Obesity, Cross-Sectional Studie, business.industry, Risk Factor, Insulin, Body Weight, Androstenedione, Overweight, medicine.disease, Cross-Sectional Studies, chemistry, Multivariate Analysis, business, Chromatography, Liquid
Abstract: Objective To evaluate the independent impact of age, obesity and metabolic risk factors on 13 circulating steroid levels; to generate reference intervals for adult men. Design Cross-sectional study. Methods Three hundred and fifteen adults, drug-free and apparently healthy men underwent clinical and biochemical evaluation. Thirteen steroids were measured by LC-MS/MS and compared among men with increasing BMI. Moreover, the independent impact of age, BMI and metabolic parameters on steroid levels was estimated. Upper and lower reference limits were generated in steroid-specific reference sub-cohorts and compared with dysmetabolic sub-cohorts. Results We observed lower steroid precursors and testosterone and increase in estrone levels in men with higher BMI ranges. By multivariate analysis, 17-hydroxyprogesterone and dihydrotestosterone decreased with BMI, while cortisol decreased with waist circumference. Estrone increased with BMI and systolic blood pressure. Testosterone decreased with worsening insulin resistance. 17-hydroxypregnenolone and corticosterone decreased with increasing total/HDL-cholesterol ratio. Age-related reference intervals were estimated for 17-hydroxypregnenolone, DHEA, 17-hydroxyprogesterone, corticosterone, 11-deoxycortisol, cortisol and androstenedione, while age-independent reference intervals were estimated for progesterone, 11-deoxycorticosterone, testosterone, dihydrotestosterone, estrone and estradiol. Testosterone lower limit was 2.29 nmol/L lower (P = 0.007) in insulin resistant vs insulin sensitive men. Furthermore, the upper limits for dihydrotestosterone (−0.34 nmol/L, P = 0.045), cortisol (−87 nmol/L, P = 0.045–0.002) and corticosterone (−10.1 nmol/L, P = 0.048–0.016) were lower in overweight/obese, in abdominal obese and in dyslipidaemic subjects compared to reference sub-cohorts, respectively. Conclusions Obesity and mild unmedicated metabolic risk factors alter the circulating steroid profile and bias the estimation of reference limits for testosterone, dihydrotestosterone, cortisol and corticosterone. Applying age-dependent reference intervals is mandatory for steroid precursors and corticosteroids.
Published: 2020
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5. Hirsutism and Virilization

Author: Alessandra Gambineri, Renato Pasquali, Antonio Balsamo, F.Bandeira et al., F. BANDEIRA, H. GHARIB, A. GOLBERT, L. GRIZ, M. FARIA, Gambineri A., Balsamo A., and Pasquali R.
Subjects: medicine.medical_specialty, business.industry, Virilization, HIRSUTISM, Androgen Excess, medicine.disease, Dermatology, Chin, medicine.anatomical_structure, ADULT, CHILD, medicine, Amenorrhea, VIRILIZATION, medicine.symptom, Presentation (obstetrics), business, hirsutism, Acne, Breast atrophy
Abstract: Hirsutism is the medical term that refers to the presence of excessive terminal (coarse) hair in androgen-sensitive areas of the female body (upper lip, chin, chest, back, abdomen, arms, and thighs). Virilization is more extensive than hirsutism with additional evidence of masculinization. In particular, the term virilization refers to the concurrent presentation of hirsutism with a broad range of signs suggestive of androgen excess, varying with age, such as ambiguous external genitalia, increased muscle mass, acne, balding, deepening of the voice, breast atrophy, amenorrhea/oligomenorrhea, and increased libido.
Published: 2022
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6. Biomediators in Polycystic Ovary Syndrome and Cardiovascular Risk

Author: Alessandra Gambineri, Flaminia Fanelli, Djuro Macut, Uberto Pagotto, Srdan Pandurevic, Pandurevic S., Macut D., Fanelli F., Pagotto U., and Gambineri A.
Subjects: cardiovascular risk, Population, 030209 endocrinology & metabolism, Review, Sex steroid, Disease, Bioinformatics, Models, Biological, Biochemistry, Microbiology, 03 medical and health sciences, 0302 clinical medicine, Sex hormone-binding globulin, Insulin resistance, Risk Factors, Cardiovascular Disease, insulin resistance, medicine, PCOS, Humans, sex steroids, SHBG, education, Molecular Biology, 030304 developmental biology, 0303 health sciences, education.field_of_study, biology, business.industry, Hyperandrogenism, medicine.disease, Obesity, Polycystic ovary, QR1-502, 3. Good health, Cardiovascular Diseases, Biomediator, biology.protein, Female, business, biomediators, Human, Polycystic Ovary Syndrome, Compensatory Hyperinsulinemia
Abstract: Polycystic ovary syndrome (PCOS) is extremely heterogeneous in terms of clinical manifestations. The variability of the syndrome’s phenotype is derived from the genetic and molecular heterogeneity, with a great deal of environmental factors that may have long-term health consequences, such as metabolic and cardiovascular (CV) diseases. There is no doubt that women with PCOS suffer from metabolic complications more than their age-matched counterparts in the general population and at an earlier age. Obesity, low steroid hormone-binding globulin (SHBG), hyperandrogenemia, insulin resistance, and compensatory hyperinsulinemia are biomediators and early predictors of metabolic complications in PCOS. Doubts remain about the real risk of CV diseases in PCOS and the molecular mechanisms at the basis of CV complications. Based on that assumption, this review will present the available evidence on the potential implications of some biomediators, in particular, hyperandrogenism, estrogen-progesterone imbalance, insulin resistance, and low SHBG, in the processes leading to CV disease in PCOS, with the final aim to propose a more accurate CV risk assessment.
Published: 2021

7. Very-low-calorie ketogenic diet (VLCKD) in the management of metabolic diseases: systematic review and consensus statement from the Italian Society of Endocrinology (SIE)

Author: Caprio, M., Infante, M., Moriconi, E., Armani, A., Fabbri, A., Mantovani, G., Mariani, S., Lubrano, C., Poggiogalle, E., Migliaccio, S., Donini, L. M., Basciani, S., Cignarelli, A., Conte, E., Ceccarini, G., Bogazzi, F., Cimino, L., Condorelli, R. A., La Vignera, S., Calogero, A. E., Gambineri, A., Vignozzi, L., Prodam, F., Aimaretti, G., Linsalata, G., Buralli, S., Monzani, F., Aversa, A., Vettor, R., Santini, F., Vitti, P., Gnessi, L., Pagotto, U., Giorgino, F., Colao, A., Lenzi, A., Beccuti, G., Biondi, B., Cannavo, S., Chiodini, I., De Feudis, G., Di Francesco, S., Di Gregorio, A., Fallo, F., Foresta, C., Giacchetti, G., Granata, R., Isidori, A. M., Magni, P., Maiellaro, P., Caprino, M. P., Pivonello, R., Pofi, R., Pontecorvi, A., Simeoli, C., Caprio M., Infante M., Moriconi E., Armani A., Fabbri A., Mantovani G., Mariani S., Lubrano C., Poggiogalle E., Migliaccio S., Donini L.M., Basciani S., Cignarelli A., Conte E., Ceccarini G., Bogazzi F., Cimino L., Condorelli R.A., La Vignera S., Calogero A.E., Gambineri A., Vignozzi L., Prodam F., Aimaretti G., Linsalata G., Buralli S., Monzani F., Aversa A., Vettor R., Santini F., Vitti P., Gnessi L., Pagotto U., Giorgino F., Colao A., Lenzi A., Beccuti G., Biondi B., Cannavo S., Chiodini I., De Feudis G., Di Francesco S., Di Gregorio A., Fallo F., Foresta C., Giacchetti G., Granata R., Isidori A.M., Magni P., Maiellaro P., Caprino M.P., Pivonello R., Pofi R., Pontecorvi A., and Simeoli C.
Subjects: Weight loss, medicine.medical_specialty, Consensus, Ketogenic, Calorie, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Cardiovascular rehabilitation, Cardiovascular risk, Ketone bodies, Obesity, Type 2 diabetes, 030209 endocrinology & metabolism, Type 2 diabete, 03 medical and health sciences, Therapeutic approach, Settore MED/13, 0302 clinical medicine, Endocrinology, Metabolic Diseases, Medical, medicine, Milestone (project management), Humans, Intensive care medicine, Cardiovascular rehabilitation, Cardiovascular risk, Ketone bodies, Obesity, Type 2 diabetes, Weight loss, business.industry, Reducing, medicine.disease, Diet, 030220 oncology & carcinogenesis, Diet, Ketogenic, Diet, Reducing, Societies, Medical, medicine.symptom, Societies, business, Developed country, Ketone bodie, Ketogenic diet
Abstract: Background: Weight loss is a milestone in the prevention of chronic diseases associated with high morbility and mortality in industrialized countries. Very-low calorie ketogenic diets (VLCKDs) are increasingly used in clinical practice for weight loss and management of obesity-related comorbidities. Despite evidence on the clinical benefits of VLCKDs is rapidly emerging, some concern still exists about their potential risks and their use in the long-term, due to paucity of clinical studies. Notably, there is an important lack of guidelines on this topic, and the use and implementation of VLCKDs occurs vastly in the absence of clear evidence-based indications. Purpose: We describe here the biochemistry, benefits and risks of VLCKDs, and provide recommendations on the correct use of this therapeutic approach for weight loss and management of metabolic diseases at different stages of life.
Published: 2019
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8. Behavioral, socio-environmental, educational and demographic correlates of excess body weight in Italian adolescents and young adults

Author: Paola Altieri, Flaminia Fanelli, Alessandra Gambineri, Renato Pasquali, Andrea Repaci, Carla Cavazza, Uberto Pagotto, Antonio Maria Morselli-Labate, C. Pelusi, Pelusi, C., Altieri, P., Gambineri, A., Repaci, A., Cavazza, C., Fanelli, F., Morselli-Labate, A.M., Pagotto, U., and Pasquali, R.
Subjects: Male, Parents, Health Knowledge, Attitudes, Practice, Pediatric Obesity, Adolescent, Social Determinants of Health, Endocrinology, Diabetes and Metabolism, Health Behavior, Population, Medicine (miscellaneous), 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Social Environment, Weight Gain, Logistic regression, Risk Assessment, Young Adult, BMI, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Risk Factors, Prevalence, Nutrition and Dietetic, Humans, Medicine, Obesity, Young adult, education, Life Style, education.field_of_study, Nutrition and Dietetics, Parental obesity, business.industry, Age Factors, Odds ratio, Lifestyle, medicine.disease, Health Surveys, Educational attainment, Confidence interval, Italy, Adolescent Behavior, Educational Status, Female, Cardiology and Cardiovascular Medicine, business, Demography
Abstract: Background and Aims: Excess body weight (EBW) is the most prevalent nutritional disorder among adolescents worldwide. Identifying determinants of EBW may help find new intervention strategies. Behavioral, socio-economic, educational and demographic correlates of EBW were examined in a population of Italian adolescents, separately for males and females. Methods and results: As many as 1039 male and 2052 female students (aged 16–19 ys) attending the last three years of different types of high-school of the Emilia-Romagna region in Italy were offered participation, with 552 males and 841 females being finally evaluated. The prevalence of EBW was 21.0% in males and 14.1% in females. Step-wise multivariate logistic regression analyses were performed showing that EBW was negatively related to energy intake in males (odds ratio for 100 kcal/day (OR) = 0.94, 95% confidence interval (CI): 0.89 to 0.98; P = 0.008), and to father's educational attainment (OR = 0.70, 95% CI: 0.52 to 0.95; P = 0.020), but positively related to parental obesity (OR = 2.80, 95% CI: 1.65 to 4.76; P < 0.001). In females, EBW was positively related to parental obesity (OR = 1.94, 95% CI: 1.15 to 3.29; P = 0.013), but negatively to mother's educational attainment (OR = 0.66, 95% CI: 0.45 to 0.97; P = 0.034) and type of attended school (OR = 0.66, 95% CI: 0.49 to 0.89; P = 0.007). Mother's occupation was also an independent determinant of EBW status in females (OR = 0.39, 95% CI: 0.18 to 0.85; P = 0.018 for being unemployed vs blue-collar). Conclusion: Parental obesity is associated with EBW in male and female adolescents. Importantly, we found sex differences in socio-economic and educational factors impacting on EBW, supporting possible distinct area of investigation.
Published: 2019
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9. Secondary PCOS: Well-defined causes, leading to the PCOS phenotype

Author: Paola Altieri, Alessandra Gambineri, Danilo Ribichini, Uberto Pagotto, Valentina Lo Preiato, Flaminia Fanelli, and Carolina Cecchetti
Subjects: business.industry, Medicine, business, Bioinformatics, Phenotype
Published: 2022
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10. International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

Author: Klaus Warnatz, Kohsuke Imai, Bénédicte Neven, Mette Holm, Ulrich Duffner, B Carpenter, Musa Karakukcu, Hassan Abolhassani, Robert Wynn, Neena Kapoor, Jennifer A. Kanakry, Marina Garcia-Prat, Mariacristina Menconi, Anna Mukhina, Pere Soler-Palacín, Takahiro Tomoda, Claudia Wehr, Diana K. Bayer, Eleonora Gambineri, Gulbu Uzel, Austen Worth, Arunkumar Modi, Mary Slatter, Tania Nicole Masmas, Dimana Dimitrova, Carsten Speckmann, J.J. Bleesing, Shankara Paneesha, Kanchan Rao, Sylwia Kołtan, Carmem Bonfim, Jasmeen Dara, Colin G. Steward, Winnie Ip, Emma C. Morris, Asghar Aghamohammadi, Andrew R. Gennery, Gašper Markelj, Luigi D. Notarangelo, Stephen M. Hughes, Sujal Ghosh, Tsubasa Okano, Ansgar Schulz, Arjan C. Lankester, Stephen Jolles, Ebru Yilmaz, Alexandra Laberko, Maria Elena Maccari, Stephan Ehl, Christopher C. Dvorak, Despina Moshous, Hyoung Jin Kang, Carolina Prando, Zohreh Nademi, Institut Català de la Salut, [Dimitrova D] Experimental Transplantation and Immunotherapy Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. [Nademi Z] Children’s Bone Marrow Transplant Unit, Great North Children’s Hospital, Newcastle upon Tyne, United Kingdom. The Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom. [Maccari ME, Ehl S] Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Center for Chronic Immunodeficiency, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. [Uzel G] Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. [Tomoda T] Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. [Garcia-Prat M, Soler-Palacín P] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
Subjects: Graft Rejection, Male, 0301 basic medicine, Oncology, Allergy, lymphoproliferation, mTOR inhibitor, Kaplan-Meier Estimate, Regenerative Medicine, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, hemic and lymphatic diseases, Immunology and Allergy, Cumulative incidence, Child, Otros calificadores::/terapia [Otros calificadores], Immunodeficiency, Cancer, Primary immunodeficiency, Hematopoietic Stem Cell Transplantation, MTOR Inhibitors, Hematology, Middle Aged, Síndromes de deficiència immunitària - Tractament, enfermedades del sistema inmune::síndromes de inmunodeficiencia [ENFERMEDADES], Treatment Outcome, surgical procedures, operative, Child, Preschool, Immune System Diseases::Immunologic Deficiency Syndromes [DISEASES], Female, terapéutica::terapia biológica::tratamientos basados en células y tejidos::trasplante de células::trasplante de células madre::trasplante de células madre hematopoyéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Homologous, Adult, medicine.medical_specialty, activated phosphoinositide 3-kinase delta syndrome, Adolescent, Class I Phosphatidylinositol 3-Kinases, Primary Immunodeficiency Diseases, graft failure, Immunology, serotherapy, Activated PI3K-delta syndrome, Context (language use), Article, Young Adult, 03 medical and health sciences, Rare Diseases, Internal medicine, medicine, Transplantation, Homologous, Humans, Preschool, Retrospective Studies, Aged, Transplantation, allogeneic hematopoietic cell transplantation, Cèl·lules mare hematopoètiques - Trasplantació, business.industry, diagnóstico::pronóstico::resultado del tratamiento [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Retrospective cohort study, Other subheadings::/therapy [Other subheadings], Diagnosis::Prognosis::Treatment Outcome [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], medicine.disease, 030104 developmental biology, Graft-versus-host disease, allogeneic hemato-poietic cell transplantation, Avaluació de resultats (Assistència sanitària), Therapeutics::Biological Therapy::Cell- and Tissue-Based Therapy::Cell Transplantation::Stem Cell Transplantation::Hematopoietic Stem Cell Transplantation [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], business, 030215 immunology
Abstract: Immunodeficiència primària; Limfoproliferació; Inhibidor de mTOR Inmunodeficiencia primaria; Linfoproliferación; Inhibidor de mTOR Primary immunodeficiency; Lymphoproliferation; MTOR inhibitor Background Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined immunodeficiency with a heterogeneous phenotype considered reversible by allogeneic hematopoietic cell transplantation (HCT). Objectives This study sought to characterize HCT outcomes in APDS. Methods Retrospective data were collected on 57 patients with APDS1/2 (median age, 13 years; range, 2-66 years) who underwent HCT. Results Pre-HCT comorbidities such as lung, gastrointestinal, and liver pathology were common, with hematologic malignancy in 26%. With median follow-up of 2.3 years, 2-year overall and graft failure–free survival probabilities were 86% and 68%, respectively, and did not differ significantly by APDS1 versus APDS2, donor type, or conditioning intensity. The 2-year cumulative incidence of graft failure following first HCT was 17% overall but 42% if mammalian target of rapamycin inhibitor(s) (mTORi) were used in the first year post-HCT, compared with 9% without mTORi. Similarly, 2-year cumulative incidence of unplanned donor cell infusion was overall 28%, but 65% in the context of mTORi receipt and 23% without. Phenotype reversal occurred in 96% of evaluable patients, of whom 17% had mixed chimerism. Vulnerability to renal complications continued post-HCT, adding new insights into potential nonimmunologic roles of phosphoinositide 3-kinase not correctable through HCT. Conclusions Graft failure, graft instability, and poor graft function requiring unplanned donor cell infusion were major barriers to successful HCT. Post-HCT mTORi use may confer an advantage to residual host cells, promoting graft instability. Longer-term post-HCT follow-up of more patients is needed to elucidate the kinetics of immune reconstitution and donor chimerism, establish approaches that reduce graft instability, and assess the completeness of phenotype reversal over time. This research was funded in part from the Intramural Program of the National Cancer Institute, National Institutes of Health. The funding source had no involvement in study design; collection, analysis, and interpretation of data; writing of the report; or in the decision to submit the article for publication.
Published: 2022
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11. Planned hematopoietic stem cell transplantation in a 17‐month‐old patient with high‐risk acute myeloid leukemia and persistent SARS‐CoV‐2 infection

Author: Eleonora Gambineri, Franco Bambi, Stefano Frenos, Francesco Pegoraro, Veronica Tintori, Tommaso Casini, Claudio Favre, Daniela Cuzzubbo, and Luisa Galli
Subjects: 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, medicine.medical_treatment, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Immunology, Myeloid leukemia, Hematology, Hematopoietic stem cell transplantation, Virology, SARS‐CoV‐2, Transplantation, AML, COVID‐19, HSCT, Immunology and Allergy, Medicine, Transplantation Conditioning, business, Letters to the Editor, Letter to the Editor, transplantation
Published: 2021

12. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

Author: A G Ugazio, Giovanna Russo, Maria Giovanna Danieli, Alberto Tommasini, Maria Cristina Pietrogrande, Raffaele Badolato, Andrea Pession, Carlo Agostini, Fabio Cardinale, Eleonora Gambineri, Baldassare Martire, Adele Civino, Manuela Baronio, Marco Gattorno, Marco Zecca, Viviana Moschese, Chiara Azzari, Alessio Benvenuto, Marzia Duse, Antonino Trizzino, Luisa Gazzurelli, Isabella Quinti, Vassilios Lougaris, Andrea Matucci, Giuseppe Spadaro, Claudio Lunardi, Angelo Vacca, Roberto Rondelli, Maria Caterina Putti, Luciana Chessa, Giovanna Fabio, Andrea Biondi, Fausto Cossu, Roberto Paganelli, Paolo Rossi, Rita Consolini, Alessandro Aiuti, Gian Luigi Marseglia, Luigi Carpino, Caterina Cancrini, Maddalena Marinoni, Silvana Martino, Claudio Pignata, Annarosa Soresina, Patrizia Bertolini, Alessandro Plebani, Lougaris, V., Pession, A., Baronio, M., Soresina, A., Rondelli, R., Gazzurelli, L., Benvenuto, A., Martino, S., Gattorno, M., Biondi, A., Zecca, M., Marinoni, M., Fabio, G., Aiuti, A., Marseglia, G., Putti, M. C., Agostini, C., Lunardi, C., Tommasini, A., Bertolini, P., Gambineri, E., Consolini, R., Matucci, A., Azzari, C., Danieli, M. G., Paganelli, R., Duse, M., Cancrini, C., Moschese, V., Chessa, L., Spadaro, G., Civino, A., Vacca, A., Cardinale, F., Martire, B., Carpino, L., Trizzino, A., Russo, G., Cossu, F., Badolato, R., Pietrogrande, M. C., Quinti, I., Rossi, P., Ugazio, A., Pignata, C., Plebani, A., Lougaris, V, Pession, A, Baronio, M, Soresina, A, Rondelli, R, Gazzurelli, L, Benvenuto, A, Martino, S, Gattorno, M, Biondi, A, Zecca, M, Marinoni, M, Fabio, G, Aiuti, A, Marseglia, G, Putti, M, Agostini, C, Lunardi, C, Tommasini, A, Bertolini, P, Gambineri, E, Consolini, R, Matucci, A, Azzari, C, Danieli, M, Paganelli, R, Duse, M, Cancrini, C, Moschese, V, Chessa, L, Spadaro, G, Civino, A, Vacca, A, Cardinale, F, Martire, B, Carpino, L, Trizzino, A, Russo, G, Cossu, F, Badolato, R, Pietrogrande, M, Quinti, I, Rossi, P, Ugazio, A, Pignata, C, and Plebani, A
Subjects: Adult, Male, medicine.medical_specialty, Pediatrics, Primary immunodeficiencies, Adolescent, Databases, Factual, Primary Immunodeficiency Diseases, Immunology, Age at diagnosis, History, 21st Century, Combined immunodeficiencies, Young Adult, Medical microbiology, patient registry, Epidemiology, medicine, Prevalence, Immunology and Allergy, Humans, Registries, Geography, Medical, Child, Adult patients, business.industry, Infant, Newborn, Infant, History, 20th Century, medicine.disease, Prognosis, Settore MED/38, Natural history, Italy, Child, Preschool, Population Surveillance, Cohort, Primary immunodeficiency, Original Article, Female, business
Abstract: Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.
Published: 2020

13. Case report: an atypical form of familial partial lipodystrophy type 2 due to mutation in the rod domain of lamin A/C

Author: Carolina Cecchetti, M. Rosaria D’Apice, Elena Morini, Giuseppe Novelli, Carmine Pizzi, Uberto Pagotto, Alessandra Gambineri, Cecchetti C., D'Apice M.R., Morini E., Novelli G., Pizzi C., Pagotto U., and Gambineri A.
Subjects: Adult, lipodystrophy, Prognosi, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Cardiomyopathy, 030209 endocrinology & metabolism, Laminopathy, Case Report, Genetic Association Studie, rod domain, laminopathy, 030204 cardiovascular system & hematology, Bioinformatics, Sudden death, Diseases of the endocrine glands. Clinical endocrinology, LMNA, Primary cardiomyopathy, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Medicine, Missense mutation, LMNA gene, business.industry, RC648-665, Lamin Type A, medicine.disease, Lipodystrophy, Familial Partial, Settore MED/03, Female, Lipodystrophy, business, cardiomyopathy, Lamin, Human
Abstract: PurposeFamilial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of FPLD2 and cardiomyopathy have been reported in the literature. These were all due to amino-terminal heterozygous lamin A/C mutations, which are considered as new forms of overlapping syndromes.Methods and ResultsHere we report the identification of a female patient with FPLD2 due to a heterozygous missense variant c.604G>A in the exon 3 of the LMNA gene, leading to amino acid substitution (p.Glu202Lys) in the central alpha-helical rod domain of lamin A/C with a high propensity to form coiled-coil dimers. The patient’s cardiac evaluations that followed the genetic diagnosis revealed cardiac rhythm disturbances which were promptly treated pharmacologically.ConclusionsThis report supports the idea that there are “atypical forms” of FPLD2 with cardiomyopathy, especially when a pathogenic variant affects the lamin A/C head or alpha-helical rod domain. It also highlights how increased understanding of the genotype-phenotype correlation could help clinicians to schedule personalized monitoring of the lipodystrophic patient, in order to prevent uncommon but possible devastating manifestations, including arrhythmias and sudden death.
Published: 2021

14. Body mass index rather than the phenotype impacts precocious ultrasound cardiovascular risk markers in polycystic ovary syndrome

Author: Carla Pelusi, Flaminia Fanelli, Paola Altieri, Uberto Pagotto, Alessandra Gambineri, Luca Bergamaschi, Paola Rucci, Guido Di Dalmazi, Djuro Macut, Valentina Vicennati, Carmine Pizzi, Carolina Cecchetti, Srdjan Pandurevic, Laura Patton, Francesca Corzani, Pandurevic, Srdan, Bergamaschi, Luca, Pizzi, Carmine, Patton, Laura, Rucci, Paola, Corzani, Francesca, Cecchetti, Carolina, Pelusi, Carla, Altieri, Paola, Vicennati, Valentina, Di Dalmazi, Guido, Fanelli, Flaminia, Macut, Djuro, Pagotto, Uberto, and Gambineri, Alessandra
Subjects: Adult, medicine.medical_specialty, Cross-sectional study, Vasodilator Agents, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Overweight, Carotid Intima-Media Thickness, Risk Assessment, Body Mass Index, Nitroglycerin, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Outpatient clinic, education, Ultrasonography, BMI, PCOS, cardiovascular risk, IMT, FMD, EFT, intima media, flow-mediated dilation, epicardial fat, 2. Zero hunger, education.field_of_study, business.industry, Hyperandrogenism, Confounding, nutritional and metabolic diseases, General Medicine, Middle Aged, medicine.disease, Polycystic ovary, 3. Good health, Vasodilation, Cross-Sectional Studies, Phenotype, Cardiovascular Diseases, 030220 oncology & carcinogenesis, Female, medicine.symptom, business, Pericardium, Body mass index, Polycystic Ovary Syndrome
Abstract: Objective Research into cardiovascular disease (CV) prevention has demonstrated a variety of ultrasound (US) markers predicting risk in the general population but which have been scarcely used for polycystic ovary syndrome (PCOS). Obesity is a major factor contributing to CV disease in the general population, and it is highly prevalent in PCOS. However, it is still unclear how much risk is attributable to hyperandrogenism. This study evaluates the most promising US CV risk markers in PCOS and compares them between different PCOS phenotypes and BMI values. Design Women fulfilling the Rotterdam criteria for PCOS were recruited from our outpatient clinic for this cross-sectional study. Methods Participants (n = 102) aged 38.9 ± 7.4 years were stratified into the four PCOS phenotypes and the three BMI classes (normal-weight, overweight, obese). They were assessed for clinical and biochemical parameters together with the following US markers: coronary intima-media thickness (cIMT), flow-mediated vascular dilation (FMD), nitroglycerine-induced dilation (NTG), and epicardial fat thickness (EFT). Results There was no statistical difference among the four phenotypes in terms of cIMT, FMD, NTG or EFT, however all the US parameters except NTG showed significant differences among the three BMI classes. Adjusting for confounding factors in multiple regression analyses, EFT retained the greatest direct correlation with BMI and cIMT remained directly correlated but to a lesser degree. Conclusions This study showed that obesity rather than the hyperandrogenic phenotype negatively impacts precocious US CV risk markers in PCOS. In addition, EFT showed the strongest association with BMI, highlighting its potential for estimating CV risk in PCOS.
Published: 2021

15. Steroid reference intervals in women: influence of menopause, age and metabolism

Author: Marco Mezzullo, Alessandra Gambineri, Guido Di Dalmazi, Alessia Fazzini, Matteo Magagnoli, Uberto Pagotto, Carla Pelusi, Flaminia Fanelli, Margherita Baccini, Valentina Vicennati, Mezzullo, Marco, Gambineri, Alessandra, Di Dalmazi, Guido, Fazzini, Alessia, Magagnoli, Matteo, Baccini, Margherita, Vicennati, Valentina, Pelusi, Carla, Pagotto, Uberto, and Fanelli, Flaminia
Subjects: Adult, medicine.medical_specialty, Aging, Waist, Adolescent, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Estrone, Diagnostic Techniques, Endocrine, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Endocrinology, Insulin resistance, Sex Factors, Reference Values, Tandem Mass Spectrometry, Internal medicine, Medicine, Humans, Young adult, education, Gonadal Steroid Hormones, liquid chromatography tandem mass spectrometry (LC-MS/MS), steroid profile, reference intervals, obesity, dysmetabolism, menopause, menstrual phase, Aged, Aged, 80 and over, education.field_of_study, business.industry, Age Factors, General Medicine, Middle Aged, medicine.disease, Obesity, Menopause, Cross-Sectional Studies, chemistry, 030220 oncology & carcinogenesis, Dihydrotestosterone, Female, business, Energy Metabolism, Blood Chemical Analysis, medicine.drug, Chromatography, Liquid
Abstract: Objective To investigate the impact of age, obesity and metabolic parameters on 13 circulating steroids in reproductive and menopausal age. To define reference intervals (RIs). Design Cross-sectional. Methods Three hundred and twenty five drug-free, healthy and eumenorrheic women were selected from the general population. Independent relationships of LC-MS/MS-determined steroid levels with age, BMI and metabolic parameters were estimated. Reference sub-cohorts were defined for calculating upper and lower limits in reproductive age, menstrual phases and menopause, and these were compared with limits in dysmetabolic sub-cohorts. Results Lower androgens, pro-androgens and estrogens, but higher cortisol and metabolites were found in menopausal compared to reproductive age women. Androgens and precursors decreased during reproductive age (P < 0.001–P = 0.002) but not after menopause. 17OH-progesterone decreased with BMI (P = 0.006) and glucocorticoids with waist circumference (P < 0.001P = 0.002) in reproductive age, but increased with triglycerides (P=0.011P=0.038) after menopause. Inverse associations of dihydrotestosterone with BMI (P=0.004) and HDL-cholesterol (P=0.010), estrone with total cholesterol (P=0.033) and estradiol with triglycerides (P=0.011) were found in reproductive age. After menopause, estrone increased with waist circumference (PP=0.012). Ovarian steroid RIs were estimated in menstrual phases and menopause. Age- and reproductive status-specific RIs were generated for androgens, precursors and corticosteroids. Lower limits for reproductive age cortisol (P=0.020) and menopausal 11-deoxycortisol (P=0.003) in dysmetabolic sub-cohorts were reduced and increased, respectively, compared to reference limits. Conclusions Obesity and dysmetabolism differently influence circulating steroids in reproductive and menopausal status. Age, menstrual and menopausal status-specific RIs were provided by LC-MS/MS for a broad steroid panel.
Published: 2020

16. Maternal obesity: focus on offspring cardiometabolic outcomes

Author: Giovanna Muscogiuri, Alessandra Gambineri, Daniela Laudisio, Alessandro Conforti, Luigi Barrea, Annamaria Colao, Andrea Di Nisio, Silvia Savastano, Gambineri, Alessandra, Conforti, Alessandro, Di Nisio, Andrea, Laudisio, Daniela, Muscogiuri, Giovanna, Barrea, Luigi, Savastano, Silvia, and Colao, Annamaria
Subjects: Pregnancy, medicine.medical_specialty, business.industry, Offspring, General Medicine, Review Article, medicine.disease, Obesity, Environmental health, Epidemiology, medicine, Animal studies, business, Cardiovascular outcomes
Abstract: Several human and animal studies have demonstrated that cardiometabolic parameters in infancy, childhood, adolescence and even adulthood are negatively influenced by many factors besides energy imbalance. Interestingly, maternal weight excess both before and during pregnancy seems to be a negative determinant of metabolic and cardiovascular outcomes in the offspring. This review includes both human and animal studies and finally highlights the link between maternal obesity and cardiometabolic disorders in offspring.
Published: 2020

17. Salivary cortisol and cortisone responses to short-term psychological stress challenge in late adolescent and young women with different hyperandrogenic states

Author: Alessandra Gambineri, Flaminia Fanelli, Guido Di Dalmazi, Jenny Guidi, Daniela Ibarra-Gasparini, Uberto Pagotto, Renato Pasquali, Antonio Maria Morselli-Labate, Marianna Mastroroberto, Marco Mezzullo, Alessia Fazzini, and Marco Mezzullo, Flaminia Fanelli, Guido Di Dalmazi, Alessia Fazzini, Daniela Ibarra-Gasparini, Marianna Mastroroberto, Jenny Guidi, Antonio Maria Morselli-Labate, Renato Pasquali, Uberto Pagotto, Alessandra Gambineri
Subjects: Hirsutism, Hypothalamo-Hypophyseal System, medicine.medical_specialty, Adolescent, Hydrocortisone, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Pituitary-Adrenal System, 030209 endocrinology & metabolism, androgen, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, HPA-axi, Internal medicine, PCOS, medicine, Humans, Testosterone, Saliva, Glucocorticoids, Biological Psychiatry, hirsutism, 030219 obstetrics & reproductive medicine, Endocrine and Autonomic Systems, business.industry, Stressor, medicine.disease, Androgen, Polycystic ovary, Cortisone, Psychiatry and Mental health, Cross-Sectional Studies, Blood pressure, Androgens, Quality of Life, Female, Hyperandrogenism, business, stressor event, Stress, Psychological, Glucocorticoid, Polycystic Ovary Syndrome, medicine.drug
Abstract: Hyperandrogenic disorders have been associated with psychological distress, reduced quality of life, anxiety and depression. The hypothalamic–pituitary–adrenal (HPA) axis plays a pivotal role in the adaptive response to stressor events. Salivary cortisol (SalF) and cortisone (SalE) testing have been proven to be useful in the evaluation of HPA-axis activity. This study investigated whether SalF and SalE responses to two putative stressor levels differed between the hyperandrogenic states in late adolescent and young women, thus measuring the HPA-axis adaptive response to acute stress events. We selected 161 drug-free females aged 16–19 years from a large population previously enrolled in a cross-sectional epidemiological study. Saliva was collected in the morning before and after two putative stressor events consisting in a self-filled questionnaire (weaker stressor) and in a structured interview plus physical examination by an endocrinologist (stronger stressor). SalF and SalE, as well as blood steroids, were assessed by liquid chromatography–tandem mass spectrometry. Subjects were subdivided into different groups according to the presence of: isolated menstrual irregularities (MI, oligo-amenorrhea; n = 22), isolated hirsutism (HIR, modified Ferriman–Gallwey score ≥ 8; n = 26), isolated hyperandrogenaemia (HT, testosterone >0.438 ng/mL; n = 14), and polycystic ovary syndrome (PCOS, MI with HIR and/or HT, n = 16). The remaining 83 apparently healthy subjects were used as controls. SalF and SalE significantly decreased after the weaker stressor, following the physiologic diurnal loss, in all the groups except for isolated HIR, where they remained unchanged (P = 0.091 and P = 0.118, respectively). In contrast, SalF and SalE remained unchanged after the stronger stressor in isolated MI, isolated HT and controls, whereas SalF increased significantly in isolated HIR (P = 0.011), and SalE increased significantly both in isolated HIR (P = 0.005) and in PCOS (P = 0.011) groups. SalF percentage variation in response to the stronger stressor was positively associated with systolic blood pressure in PCOS (P = 0.018), and both SalF and SalE percentage variations were positively associated with diastolic blood pressure in the isolated HIR group (P = 0.010 and P = 0.006, respectively). In addition, in the isolated HIR group, the SalF percentage variation was negatively associated with HDL cholesterol levels (P = 0.005). Finally, SalF and SalE percentage variations were positively associated with circulating androstenedione (P = 0.031 and P = 0.011, respectively) and DHEA (P = 0.020 and P = 0.003, respectively) in the isolated HIR group. In conclusion, this study demonstrates that hirsute and PCOS adolescent and young women are characterized by HPA-axis overactivity in response to stressful stimuli, as detectable by salivary glucocorticoid measurements. These data also indicate that the higher the HPA-axis activity, the higher the adrenal androgen output and the worse the metabolic profile.
Published: 2018
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18. IL-2 Signaling Axis Defects: How Many Faces?

Author: Filippo Consonni, Eleonora Gambineri, and Claudio Favre
Subjects: 0301 basic medicine, Mini Review, STAT5B, chemical and pharmacologic phenomena, medicine.disease_cause, Pediatrics, RJ1-570, regulatory T cells, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, Genome editing, immune dysregulation, medicine, IPEX, IL-2 receptor, Receptor, CD25, business.industry, FOXP3, hemic and immune systems, Phenotype, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Signal transduction, business, Neuroscience, 030215 immunology, primary immunodeficiencies
Abstract: CD25, Signal transducer and activator of transcription 5B (STAT5B) and Forkhead box P3 (FOXP3) are critical mediators of Interleukin-2 (IL-2) signaling pathway in regulatory T cells (Tregs). CD25 (i.e., IL-2 Receptor α) binds with high affinity to IL-2, activating STAT5B-mediated signaling that eventually results in transcription of FOXP3, a master regulator of Treg function. Consequently, loss-of-function mutations in these proteins give rise to Treg disorders (i.e., Tregopathies) that clinically result in multiorgan autoimmunity. Immunodysregulation, Polyendocrinopathy Enteropathy X-linked (IPEX), due to mutations inFOXP3, has historically been the prototype of Tregopathies. This review describes current knowledge about defects inCD25, STAT5B, andFOXP3, highlighting that these disorders both share a common biological background and display comparable clinical features. However, specific phenotypes are associated with each of these syndromes, while certain laboratory findings could be helpful tools for clinicians, in order to achieve a prompt genetic diagnosis. Current treatment strategies will be outlined, keeping an eye on gene editing, an interesting therapeutic perspective that could definitely change the natural history of these disorders.
Published: 2021

19. Thyro-cutaneous fistula a rare presentation of thyroid lymphoma

Author: Andrea Repaci, Carla Pelusi, Michelle Beleffi, Uberto Pagotto, Alessandra Gambineri, Alessandra Colapinto, Nicola Salituro, Paola Altieri, Valentina Vicennati, and Dalmazi Guido Di
Subjects: medicine.medical_specialty, business.industry, Graves' disease, Internal medicine, medicine, Clinical severity, medicine.disease, business
Published: 2021
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20. Ethnicity and its influence on post-oral glucose tolerance test glucagon-like peptide-1 responses

Author: Uberto Pagotto, Flaminia Fanelli, Carla Pelusi, Alessandra Gambineri, Valentina Vicennati, Carmine Pizzi, Srdjan Pandurevic, and Dalmazi Guido Di
Subjects: education.field_of_study, business.industry, Population, Medicine, Physiology, Reproductive age, business, education, Phenotype
Published: 2021
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21. Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome

Author: Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, and Emma Westermann-Clark
Subjects: lymphoproliferation, Case Report, Disease, Malignancy, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, cytopenia, Genetic testing, Cytopenia, medicine.diagnostic_test, business.industry, ALPS (autoimmune lymphoproliferative syndrome), lcsh:RJ1-570, lcsh:Pediatrics, Fas, medicine.disease, Fas receptor, Penetrance, 030220 oncology & carcinogenesis, Autoimmune lymphoproliferative syndrome, Pediatrics, Perinatology and Child Health, Immunology, novel mutation, business, 030215 immunology
Abstract: Autoimmune Lymphoproliferative Syndrome (ALPS), commonly caused by mutations in the FAS gene, is a disease with variable penetrance. Subjects may be asymptomatic, or they may present with lymphadenopathy, splenomegaly, cytopenias, or malignancy. Prompt recognition of ALPS is needed for optimal management. We describe a multi-generational cohort presenting with clinical manifestations of ALPS, and a previously unreported heterozygous missense variant of uncertain significance in FAS (c.758G >T, p.G253V), located in exon 9. Knowledge of the underlying genetic defect permitted prompt targeted therapy to treat acute episodes of cytopenia. This cohort underscores the importance of genetic testing in subjects with clinical features of ALPS and should facilitate the reclassification of this variant as pathogenic.
Published: 2021
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22. Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Author: Alessandra Gambineri, Nicola Carboni, Renato Mantegazza, Elena Biagini, Adele D'Amico, Elisa Schena, Luisa Politano, Maria Rosaria D'Apice, Lorenzo Maggi, Tiziana Mongini, Gabriele Siciliano, Giulia Ricci, Paola Cavalcante, Irene Tramacere, Pia Bernasconi, Liliana Vercelli, Cristina Cappelletti, Giuseppe Boriani, Giovanna Lattanzi, Matteo Ziacchi, Lucia Ruggiero, Cappelletti, C., Tramacere, I., Cavalcante, P., Schena, E., Politano, L., Carboni, N., Gambineri, A., D'Amico, A., Ruggiero, L., Ricci, G., Siciliano, G., Boriani, G., Mongini, T. E., Vercelli, L., Biagini, E., Ziacchi, M., D'Apice, M. R., Lattanzi, G., Mantegazza, R., Maggi, L., Bernasconi, P., Cristina Cappelletti , Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano , Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi , Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi, Cappelletti, Cristina, Tramacere, Irene, Cavalcante, Paola, Schena, Elisa, Politano, Luisa, Carboni, Nicola, Gambineri, Alessandra, D’Amico, Adele, Ruggiero, Lucia, Ricci, Giulia, Siciliano, Gabriele, Boriani, Giuseppe, Mongini, Tiziana Enrica, Vercelli, Liliana, Biagini, Elena, Ziacchi, Matteo, D’Apice, Maria Rosaria, Lattanzi, Giovanna, Mantegazza, Renato, Maggi, Lorenzo, and Bernasconi, Pia
Subjects: Adult, Male, Laminopathy, macrophage, Disease, medicine.disease_cause, Article, Striated, LMNA, muscle damage, Immune system, Muscular Diseases, cytokine, medicine, Humans, skeletal muscle, lcsh:QH301-705.5, laminopathie, Mutation, biology, business.industry, laminopathies, General Medicine, Transforming growth factor beta, medicine.disease, cytokines, macrophages, Biomarkers, Cytokines, Female, Laminopathies, Muscle, Striated, Phenotype, lcsh:Biology (General), Immunology, biology.protein, Muscle, business, Genetic screen
Abstract: Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying an identical mutation in the LMNA gene make the prognostic process rather difficult, and classical genetic screens appear to have limited predictive value for disease development. The aim of this study was to evaluate whether a comprehensive profile of circulating cytokines may be a useful tool to differentiate and stratify disease subgroups, support clinical follow-ups and contribute to new therapeutic approaches. Serum levels of 51 pro- and anti-inflammatory molecules, including cytokines, chemokines and growth factors, were quantified by a Luminex multiple immune-assay in 53 patients with muscular laminopathy (Musc-LMNA), 10 with non-muscular laminopathy, 22 with other muscular disorders and in 35 healthy controls. Interleukin-17 (IL-17), granulocyte colony-stimulating factor (G-CSF) and transforming growth factor beta (TGF-&beta, 2) levels significantly discriminated Musc-LMNA from controls, interleukin-1&beta, (IL-1&beta, ), interleukin-4 (IL-4) and interleukin-8 (IL-8) were differentially expressed in Musc-LMNA patients compared to those with non-muscular laminopathies, whereas IL-17 was significantly higher in Musc-LMNA patients with muscular and cardiac involvement. These findings support the hypothesis of a key role of the immune system in Musc-LMNA and emphasize the potential use of cytokines as biomarkers for these disorders.
Published: 2020
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23. PCOS Phenotype in Unselected Populations Study (P-PUP): Protocol for a Systematic Review and Defining PCOS Diagnostic Features with Pooled Individual Participant Data

Author: Ricardo Azziz, Jin Ju Kim, Aya Mousa, Helena J. Teede, Sylvia Kiconco, Anju E. Joham, Alessandra Gambineri, Larisa Suturina, Fahimeh Ramezani Tehrani, Joanne Enticott, Xiaomiao Zhao, Bulent O. Yildiz, Kiconco S., Mousa A., Azziz R., Enticott J., Suturina L.V., Zhao X., Gambineri A., Tehrani F.R., Yildiz B.O., Kim J.J., Teede H.J., and Joham A.E.
Subjects: Medicine (General), medicine.medical_specialty, phenotype, media_common.quotation_subject, education, Clinical Biochemistry, MEDLINE, Stein-Leventhal, menstrual cycle, Androgen, R5-920, Epidemiology, Protocol, PCOS, medicine, normative cut-offs, Cluster analysi, Menstrual cycle, hirsutism, media_common, Obstetrics, business.industry, Free androgen index, androgens, polycystic ovaries, Testosterone (patch), Normative cut-off, medicine.disease, PCOM, Polycystic ovary, Normative, epidemiology, business, Polycystic ovarie, cluster analysis
Abstract: The diagnosis of polycystic ovary syndrome (PCOS) remains challenging due to limited data regarding normative cut-offs for the diagnostic features in different subpopulations. We aim to conduct a systematic review, build a comprehensive repository of de-identified individual participant data (IPD), and define normative ranges and diagnostic cut-offs for all PCOS diagnostic features. We will conduct a systematic search of MEDLINE and EMBASE databases for studies that assessed PCOS diagnostic features in unselected women. Two reviewers will assess eligibility and perform quality appraisal. Authors of included studies will be invited to contribute IPD. Primary variables include directly assessed modified Ferriman Gallwey (mFG) scores; menstrual cycle lengths; follicle number per ovary (FNPO), ovarian volume (OV), anti-Müllerian hormone (AMH); circulating androgens, including total testosterone (TT), free testosterone, bioavailable testosterone, free androgen index (FAI), androstenedione (A4), and dehydroepiandrosterone sulphate (DHEAS). Normative ranges and cut-offs will be defined using cluster analysis. Monash University Human Research Ethics Committee granted ethical approval (26938/0 1/12/2020), all IPD will be de-identified and primary studies have ethical approval from their institutional ethics committees. Findings will clarify distinction between PCOS and non-PCOS populations, and inform the update of the international evidence-based guidelines for the assessment and management of PCOS.
Published: 2021
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24. Plasma 2-arachidonoylglycerol is a biomarker of age and menopause related insulin resistance and dyslipidemia in lean but not in obese men and women

Author: Uberto Pagotto, Flaminia Fanelli, Antonio Maria Morselli-Labate, Marianna Mastroroberto, Alessandra Gambineri, Valentina Vicennati, Renato Pasquali, Daniela Ibarra Gasparini, Margherita Baccini, Ilaria Belluomo, Marco Mezzullo, Elena Casadio, Valentina D. Di Lallo, Fanelli, Flaminia, Mezzullo, Marco, Belluomo, Ilaria, Di Lallo, Valentina Diana, Baccini, Margherita, Ibarra Gasparini, Daniela, Casadio, Elena, Mastroroberto, Marianna, Vicennati, Valentina, Gambineri, Alessandra, Morselli-Labate, Antonio Maria, Pasquali, Renato, and Pagotto, Uberto
Subjects: 0301 basic medicine, Male, Aging, BMI, body mass index, Overweight, 0302 clinical medicine, LC-MS/MS, liquid chromatography-tandem mass spectrometry, 2. Zero hunger, Aged, 80 and over, Int, interaction, OB, obese, Middle Aged, EC, endocannabinoid, 3. Good health, Menopause, HOMA-IR, homeostatic model assessment of insulin resistance, 2-Arachidonoylglycerol, Biomarker (medicine), lipids (amino acids, peptides, and proteins), Original Article, Female, medicine.symptom, 2AG, 2-arachidonoylglycerol, Adult, lcsh:Internal medicine, medicine.medical_specialty, Endocannabinoid system, DBP, diastolic blood pressure, 030209 endocrinology & metabolism, Arachidonic Acids, OW, overweight, Dysmetabolism, Glycerides, 03 medical and health sciences, Insulin resistance, Internal medicine, medicine, Humans, 1AG, 1-arachidonoylglycerol, Obesity, lcsh:RC31-1245, Molecular Biology, Aged, Dyslipidemias, NW, normal weight, business.industry, SBP, systolic blood pressure, nutritional and metabolic diseases, Cell Biology, Anthropometry, medicine.disease, HDL, high density lipoprotein, 030104 developmental biology, Endocrinology, Insulin Resistance, business, SD, standard deviation, Body mass index, Dyslipidemia, Biomarkers, ECS, endocannabinoid system, Endocannabinoids
Abstract: Objective The endocannabinoid system hypertonicity features obesity. Excess circulating 2-arachidonoylglycerol was variously associated with obesity-related metabolic impairment; however, unstandardized experimental and analytical settings have clouded its usefulness as a dysmetabolism biomarker. We aimed at assessing the influence of body mass index (BMI), menopause in women, and aging in men on 2-arachidonoylglycerol relationship with metabolic parameters. Methods Adult, unmedicated women (premenopausal (preMW): n = 103; menopausal (MW): n = 81) and men (n = 144) were stratified in normal weight (NW; BMI: 18.5–24.9 kg/m2), overweight (OW; BMI: 25.0–29.9 kg/m2), and obese (OB; BMI ≥ 30.0 kg/m2) classes. Anthropometric and metabolic parameters were determined. Plasma 2-arachidonoylglycerol was measured by a validated liquid chromatography-mass spectrometry assay. Results 2-arachidonoylglycerol level was raised by menopause (P, Highlights • Plasma 2AG is a biomarker of dysmetabolism rather than obesity. • Menopause is a major determinant of plasma 2AG levels in females. • Increased plasma 2AG level features obese premenopausal females and obese males. • 2AG is a biomarker of dyslipidemia and insulin resistance in lean menopausal women. • 2AG is a biomarker of dyslipidemia and age-related insulin resistance in lean men.
Published: 2017

25. European lipodystrophy registry: background and structure

Author: David B. Savage, Alessandra Gambineri, Raoul C.M. Hennekam, Claire Adams, Paolo Sbraccia, Jannik Schaaf, Julia von Schnurbein, David Araújo-Vilar, Camille Vatier, Giovanna Lattanzi, Konstanze Miehle, Baris Akinci, Giuseppe Novelli, Giovanni Ceccarini, Isabelle Jéru, Maria Rosaria D'Apice, Ferruccio Santini, Gabriele Nagel, Elena Vorona, Ekaterina Sorkina, George A. Tanteles, Martin Wabitsch, Corinne Vigouroux, Marie-Christine Vantyghem, Ermelinda Santos Silva, von Schnurbein, Julia [0000-0001-9918-664X], Apollo - University of Cambridge Repository, General Paediatrics, APH - Quality of Care, Von Schnurbein J., Adams C., Akinci B., Ceccarini G., D'Apice M.R., Gambineri A., Hennekam R.C.M., Jeru I., Lattanzi G., Miehle K., Nagel G., Novelli G., Santini F., Santos Silva E., Savage D.B., Sbraccia P., Schaaf J., Sorkina E., Tanteles G., Vantyghem M.-C., Vatier C., Vigouroux C., Vorona E., Araujo-Vilar D., and Wabitsch M.
Subjects: medicine.medical_specialty, Registry, Lipodystrophy, Catabolic state, Pharmacology toxicology, lcsh:Medicine, Adipose tissue, 030209 endocrinology & metabolism, Signs and symptoms, Settore MED/09, Rare diseases, 03 medical and health sciences, 0302 clinical medicine, 0502 economics and business, medicine, Humans, Pharmacology (medical), Registries, ddc:610, Genetics (clinical), Rare endocrinological diseases, User authentication, business.industry, Research, 05 social sciences, lcsh:R, General Medicine, medicine.disease, 3. Good health, Open source, Settore MED/03, Family medicine, General Data Protection Regulation, 050211 marketing, business, Rare disease, Software
Abstract: ClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registered Background: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-operation mandatory. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients with lipodystrophy. Results: The registry was build using the information technology Open Source Registry System for Rare Diseases in the EU (OSSE), an open-source software and toolbox. Lipodystrophy specific data forms were developed based on current knowledge of typical signs and symptoms of lipodystrophy. The platform complies with the new General Data Protection Regulation (EU) 2016/679 by ensuring patient pseudonymization, informational separation of powers, secure data storage and security of communication, user authentication, person specific access to data, and recording of access granted to any data. Inclusion criteria are all patients with any form of lipodystrophy (with the exception of HIV-associated lipodystrophy). So far 246 patients from nine centres (Amsterdam, Bologna, Izmir, Leipzig, Münster, Moscow, Pisa, Santiago de Compostela, Ulm) have been recruited. With the help from the six centres on the brink of recruitment (Cambridge, Lille, Nicosia, Paris, Porto, Rome) this number is expected to double within the next one or 2 years. Conclusions: A European registry for all patients with lipodystrophy will provide a platform for improved research in the area of lipodystrophy. All physicians from Europe and neighbouring countries caring for patients with lipodystrophy are invited to participate in the ECLip Registry. E.S. has funding for lipodystrophy studies by the Russian Science Foundation,grantNo17–75-30035C.Vi. and C.Va. received funding by the French Ministry of Solidarity andHealth, Assistance-Publique Hôpitaux de Paris, Sorbonne Université, the Insti-tut National de la Santé et de la Recherche Médicale (Inserm), and CardioMe-tabolism and Nutrition University Hospital Institute (ICAN), grant ANR-10-IAHU, FranceD.B.S. is supported by the Wellcome Trust (WT 107064), the MRC MetabolicDisease Unit (MRC_MC_UU_12012/2), and The National Institute for HealthResearch (NIHR) Cambridge Biomedical Research Centre and NIHR RareDisease Translational Research Collaboration.D.A.-V. received funding by the Instituto de Salud Carlos III and the EuropeanRegional Development Fund, FEDER (grant number PI18/01890), by theConsellería de Industria, Xunta de Galicia (grant number ED341b 2017/19),and by Fundación Mutua Madrileña (Call 2015).E.S.-S. work was supported by Applied Molecular Biosciences Unit (UCIBIO),which is financed by national funds from FCT/MCTES (UID/MULTI/04378/2019). info:eu-repo/semantics/publishedVersion
Published: 2020

26. Fundamental concepts and novel aspects of polycystic ovarian syndrome: expert consensus resolutions

Author: Alessandra Gambineri, Rossella E. Nappi, Sandro La Vignera, Antonio Aversa, Alberto Ferlin, Rocco Rago, Aldo E. Calogero, and Antonio Aversa, Sandro La Vignera, Rocco Rago, Alessandra Gambineri, Rossella E. Nappi , Aldo E. Calogero, Alberto Ferlin
Subjects: 0301 basic medicine, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, PCOS, medical therapy, nutraceuticals, PCOS carriers, male PCOS, consensus, 030209 endocrinology & metabolism, Review, PCOS carriers, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Scientific evidence, 03 medical and health sciences, Endocrinology, 0302 clinical medicine, Quality of life (healthcare), Pregnancy, medicine, PCOS, Humans, Intensive care medicine, Expert Testimony, Reproductive health, nutraceuticals, lcsh:RC648-665, Consensus, Male PCOS, Medical therapy, Nutraceuticals, business.industry, Expert consensus, male PCOS, medicine.disease, Polycystic ovary, Gestational diabetes, medical therapy, 030104 developmental biology, Increased risk, consensus, Quality of Life, Female, business, Infertility, Female, Polycystic Ovary Syndrome, PCOS, PCOS carriers, consensus, male PCOS, medical therapy, nutraceuticals
Abstract: Polycystic ovary syndrome (PCOS) is a very common endocrine and metabolic disorder with the involvement of both genetic and environmental factors. Although much has been clarified on its pathogenesis, diagnosis, clinical manifestations, and therapy, there are still areas of uncertainty. To address fundamental concepts, novel aspects and hypotheses, and future perspectives, including the possible additional benefits of treatment with nutraceuticals, an expert consensus panel formed by endocrinologists and gynecologists was established. After an independent review of the literature, the panel convened electronically on February 3, 2020, and six resolutions were created, debated, and agreed upon discussion, and finally approved in their final form in a consensus livestream meeting held on April 15. The summary of the resolutions are: (1) PCOS is a well-established medical condition that negatively affects reproduction, general health, sexual health, and quality of life; (2) the symptoms and signs of PCOS appear early in life especially in female newborns from PCOS carriers; (3) women with PCOS have significantly increased risk of pregnancy-related complications including gestational diabetes mellitus; (4) a male PCOS equivalent exists, and it may impact on metabolic health and probably on reproduction; (5) the evidence supports that medical therapy for PCOS is effective, rational, and evidence-based; (6) the evidence supports a major research initiative to explore possible benefits of nutraceutical therapy for PCOS. The proposed resolutions may be regarded as points of agreement based on the current scientific evidence available.
Published: 2020

27. Prevalence and Incidence of Atrial Fibrillation in a Large Cohort of Adrenal Incidentalomas: A Long-Term Study

Author: Andrea Repaci, Alessandra Gambineri, Caterina Balacchi, Valentina Vicennati, Eugenio Roberto Cosentino, Flaminia Fanelli, Carmine Pizzi, Guido Di Dalmazi, Claudio Borghi, Carla Pelusi, Uberto Pagotto, Cristina Mosconi, Lorenzo Tucci, Rita Golfieri, Nazzareno Galiè, Pasquale Paolisso, Silvia Garelli, and Guido Di Dalmazi, Valentina Vicennati, Carmine Pizzi, Cristina Mosconi, Lorenzo Tucci, Caterina Balacchi, Eugenio Roberto Cosentino, Pasquale Paolisso, Flaminia Fanelli, Alessandra Gambineri, Carla Pelusi, Andrea Repaci, Silvia Garelli, Nazzareno Galiè, Claudio Borghi, Rita Golfieri, Uberto Pagotto
Subjects: Cortisol secretion, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, 030209 endocrinology & metabolism, Context (language use), 030204 cardiovascular system & hematology, adrenal incidentaloma, Rate ratio, arrhythmia, Biochemistry, autonomous cortisol secretion, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Primary aldosteronism, Internal medicine, medicine, atrial fibrillation, education, education.field_of_study, business.industry, Biochemistry (medical), Hazard ratio, Retrospective cohort study, Odds ratio, medicine.disease, cortisol, business
Abstract: Context Chronic glucocorticoids excess leads to morphological and functional cardiac alterations, a substrate for arrhythmias. Autonomous cortisol secretion (ACS) in adrenal incidentalomas is a model of chronic endogenous hypercortisolism. Objective To investigate prevalence and incidence of atrial fibrillation (AF) in a large cohort of patients with ACS. Design Retrospective study. Setting University hospital. Patients Patients evaluated between 1990 and 2018 for adrenal incidentalomas (n = 632), without pheochromocytoma, primary aldosteronism, Cushing syndrome, congenital adrenal hyperplasia, and adrenal malignancy. Cortisol after 1-mg dexamethasone suppression test 50 nmol/L defined nonsecreting tumors (NST) (n = 420) and ACS (n = 212), respectively. Intervention Assessment of AF at baseline (n = 632) and during a median follow-up of 7.7 years retrospectively (NST, n = 249; ACS, n = 108). Comparison with general population. Main Outcome Measure Prevalence and incidence of AF. Results AF prevalence was higher in patients with ACS (8.5%) than NST (3.1%, P = 0.003) and the general population (1.7%; P Conclusions Patients with adrenal incidentalomas and ACS are at risk of AF. Electrocardiogram monitoring may be recommended during follow-up.
Published: 2020

28. Le PCOS secondarie a endocrinopatie

Author: Alessandra Gambineri, Uberto Pagotto, Flaminia Fanelli, and Carolina Cecchetti
Subjects: Gynecology, medicine.medical_specialty, business.industry, medicine, business
Published: 2021
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29. Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone

Author: S Castelli, Flaminia Fanelli, G. Di Dalmazi, Alessandra Gambineri, Valentina Vicennati, Lilia Baldazzi, G Brillanti, Uberto Pagotto, Andrea Repaci, Paola Altieri, Soara Menabo, C. Pelusi, Renato Pasquali, Marco Mezzullo, Elena Nardi, A Dormi, Francesca Corzani, Claudia Oriolo, Oriolo C., Fanelli F., Castelli S., Mezzullo M., Altieri P., Corzani F., Pelusi C., Repaci A., Di Dalmazi G., Vicennati V., Baldazzi L., Menabo S., Dormi A., Nardi E., Brillanti G., Pasquali R., Pagotto U., and Gambineri A.
Subjects: Adult, medicine.medical_specialty, Adolescent, Genotyping Techniques, Endocrinology, Diabetes and Metabolism, Population, DNA Mutational Analysis, Steroid profiling, CYP21A2 genotyping, ACTH test, Cohort Studies, Diagnostic Techniques, Endocrine, Basal (phylogenetics), chemistry.chemical_compound, Young Adult, Endocrinology, Corticosterone, Tandem Mass Spectrometry, Internal medicine, Follicular phase, Medicine, Humans, Testosterone, education, education.field_of_study, medicine.diagnostic_test, biology, Adrenal Hyperplasia, Congenital, business.industry, 17-alpha-Hydroxyprogesterone, ACTH stimulation test, 21-Hydroxylase, Reproducibility of Results, Hyperplasia, Non-classic adrenal hyperplasia due to 21-hydroxylase deficiency, medicine.disease, 1–24, chemistry, biology.protein, Female, Steroids, Steroid 21-Hydroxylase, business, Biomarkers, Blood Chemical Analysis, Chromatography, Liquid, Polycystic Ovary Syndrome
Abstract: Objective: We aimed at defining the most effective routine immunoassay- or liquid chromatography-tandem mass spectrometry (LC–MS/MS)-determined steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency (21-NCAH) in a PCOS-like population before genotyping. Methods: Seventy PCOS-like patients in reproductive age with immunoassay-determined follicular 17OH-progesterone (17OHP) ≥ 2.00 ng/mL underwent CYP21A2 gene analysis and 1–24ACTH test. Serum steroids were measured by immunoassays at baseline and 60 min after ACTH stimulation; basal steroid profile was measured by LC–MS/MS. Results: Genotyping revealed 23 21-NCAH, 15 single allele heterozygous CYP21A2 mutations (21-HTZ) and 32 PCOS patients displaying similar clinical and metabolic features. Immunoassays revealed higher baseline 17OHP and testosterone, and after ACTH stimulation, higher 17OHP (17OHP60) and lower cortisol, whereas LC–MS/MS revealed higher 17OHP (17OHPLC-MS/MS), progesterone and 21-deoxycortisol and lower corticosterone in 21-NCAH compared with both 21-HTZ and PCOS patients. Steroid thresholds best discriminating 21-NCAH from 21-HTZ and PCOS were estimated, and their diagnostic accuracy in identifying 21-NCAH from PCOS was established by ROC analysis. The highest accuracy was observed for 21-deoxycortisol ≥ 0.087 ng/mL, showing 100% sensitivity, while the combination of 17OHPLC-MS/MS ≥ 1.79 ng/mL and corticosterone ≤ 8.76 ng/mL, as well as the combination of ACTH-stimulated 17OHP ≥ 6.77 ng/mL and cortisol ≤ 240 ng/mL by immunoassay, showed 100% specificity. Conclusions: LC–MS/MS measurement of basal follicular 21-deoxycortisol, 17OHP and corticosterone seems the most convenient method for diagnosing 21-NCAH in a population of PCOS with a positive first level screening, providing high accuracy and reducing the need for ACTH stimulation test.
Published: 2019

30. Female and male serum reference intervals for challenging sex and precursor steroids by liquid chromatography - tandem mass spectrometry

Author: Alessandra Gambineri, Uberto Pagotto, Flaminia Fanelli, Marco Mezzullo, Carla Pelusi, Andrea Repaci, Guido Di Dalmazi, Alessia Fazzini, Mezzullo M., Pelusi C., Fazzini A., Repaci A., Di Dalmazi G., Gambineri A., Pagotto U., and Fanelli F.
Subjects: 0301 basic medicine, Male, 17-hydroxypregnenolone, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Tandem mass spectrometry, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Liquid chromatography–mass spectrometry, Reference Values, Tandem Mass Spectrometry, estrogen, Aged, 80 and over, Estradiol, Dihydrotestosterone, Middle Aged, 3. Good health, Menopause, 030220 oncology & carcinogenesis, Molecular Medicine, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, medicine.drug_class, Estrone, 17-alpha-Hydroxypregnenolone, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Endocrine system, Humans, immunoassay, LC-MS/MS, Molecular Biology, Aged, business.industry, Selected reaction monitoring, Cell Biology, medicine.disease, 030104 developmental biology, chemistry, reference intervals, Estrogen, business, Chromatography, Liquid
Abstract: Measuring some sex and precursor steroids is still challenging even by liquid chromatography – tandem mass spectrometry (LC-MS/MS), and few normal values are available. We developed a LC-MS/MS method for estradiol, estrone, dihydrotestosterone and 17-hydroxypregnenolone measurement, compared it with direct immunoassays, and generated sex, age, menopausal and menstrual status specific reference intervals. Liquid-liquid extraction was optimized on 300 μL serum spiked with isotopic internal standards. A 2D-LC system allowed on-line purification and separation in 11 min run. Electrospray ionization was enhanced by ammonium fluoride. MS-detection was obtained by multiple reaction monitoring. Direct ECLIA for estradiol (n = 80) and RIA for estrone (n = 41) were compared with LC-MS/MS. Reference values were estimated in healthy, lean women in reproductive age (n = 118), menopausal women (n = 33) and men (n = 159). The assay showed satisfying imprecision, trueness, recovery and selectivity. Adequate functional sensitivity was achieved for measuring estrone (18.1 pmol/L) and 17-hydroxypregnenolone (117 pmol/L) in all subjects, and estradiol (35.9 pmol/L) and dihydrotestosterone (134 pmol/L) in women in reproductive age and men, but not in menopausal women. Compared with LC-MS/MS, immunoassays showed good agreement for estradiol but severe disagreement for estrone. Estrogens exhibited sex, menopausal and menstrual variations. Dihydrotestosterone and 17-hydroxypregnenolone depended on sex and menopause, the latter also declining with age in men. Strictly defined reference intervals in the adult female and male population were generated for challenging steroids such as estrogens, dihydrotestosterone and 17-hydroxypregnenolone by a novel LC-MS/MS method. Our achievement can be used to deepen the comprehension of several endocrine diseases.
Published: 2019

31. Female infertility: which role for obesity?

Author: Chiara Marocco, Annamaria Colao, Silvia Savastano, Daniela Laudisio, Alessandra Gambineri, S. Radellini, Gambineri, Alessandra, Laudisio, Daniela, Marocco, Chiara, Radellini, Stefano, Colao, Annamaria, and Savastano, Silvia
Subjects: Infertility, business.industry, Leptin, Hyperandrogenism, Female infertility, Physiology, Adipose tissue, General Medicine, Review Article, medicine.disease, Hyperestrogenism, Anovulation, Insulin resistance, medicine, NA, medicine.symptom, business
Abstract: Obesity is associated with infertility in women through multiple and complex mechanisms. Briefly, the adipose tissue through the production of many factors, such as leptin, free fatty acids (FFA), and cytokines may affect both ovarian and endometrium functions, with a final alteration in oocyte maturation and endometrial epithelium receptivity. In addition, through the development of peripheral insulin resistance obesity produces a condition of functional hyperandrogenism and hyperestrogenism that contribute to produce anovulation and to reduce endometrial receptivity and, therefore participate to cause infertility. Weight loss is able to restore fertility in most cases, but there are no practical indications to guide the clinician to choice the best method among increased physical activity, diet, drugs, and bariatric surgery.
Published: 2019

32. Atypical Presentations of IPEX: Expect the Unexpected

Author: Filippo Consonni, Sara Ciullini Mannurita, and Eleonora Gambineri
Subjects: 0301 basic medicine, medicine.medical_specialty, FOXP3, Mini Review, medicine.medical_treatment, Hematopoietic stem cell transplantation, Disease, medicine.disease_cause, Pediatrics, regulatory T cells, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, immune dysregulation, 030225 pediatrics, medicine, IPEX, Enteropathy, business.industry, Interstitial lung disease, lcsh:RJ1-570, Immunosuppression, lcsh:Pediatrics, Immune dysregulation, medicine.disease, Dermatology, 030104 developmental biology, Pediatrics, Perinatology and Child Health, business, primary immunodeficiencies
Abstract: Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare disorder that has become a model of monogenic autoimmunity. IPEX is caused by mutations in FOXP3 gene, a master regulator of regulatory T cells (Treg). Cases reported in the last 20 years demonstrate that IPEX clinical spectrum encompasses more than the classical triad of early-onset intractable diarrhea, type 1 diabetes (T1D) and eczema. Atypical cases of IPEX include patients with late-onset of symptoms, single-organ involvement, mild disease phenotypes or rare clinical features (e.g., atrophic gastritis, interstitial lung disease, nephropathy etc.). Several atypical presentations have recently been reported, suggesting that IPEX incidence might be underestimated. Immunosuppression (IS) treatment strategies can control the disease, however at the moment allogeneic hematopoietic stem cell transplantation (HSCT) is the only available definitive cure, therefore it is important to achieve a prompt diagnosis. This review aims to describe unusual clinical phenotypes, beyond classical IPEX. Overall, our analysis contributes to increase awareness and finally improve diagnosis and treatment intervention in IPEX in order to ensure a good quality of life.
Published: 2021
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33. [Advisory Board Italiano sulla sindrome dell'ovaio policistico (PCOS): dalle osservazioni all'esperienze cliniche sull'uso del mioinositolo (MYO) e dell'acido alfa-lipoico (ALA) per migliorare i quadri della sindrome]

Author: Vincenzo De Leo, Enrico Ferrazzi, Chiara Mandò, Maria E. Street, R. Apa, Rocco Rago, Nicoletta Di Simone, Paolo Moghetti, Alessandra Gambineri, Franca Fruzzetti, Anna Maria Fulghesu, Irene Cetin, and Alessandro D. Genazzani
Subjects: Iperandrogenismo, business.industry, Iperinsulinemia, Obstetrics and Gynecology, Medicine, Sindrome dell’ovaio policistico (PCOS), business, Humanities, Insulinoresistenza
Published: 2020

34. Prediction algorithm for persistent primary hyperparathyroidism after parathyroidectomy

Author: Nicola Salituro, Valentina Vicennati, Ottavio Cavicchi, Andrea Repaci, Guido Zavatta, Uberto Pagotto, Alessandra Gambineri, Paola Altieri, Giulia Vandi, Carla Pelusi, Dalmazi Guido Di, Ottavio Piccin, and Luca Burgio
Subjects: Parathyroidectomy, medicine.medical_specialty, business.industry, medicine.medical_treatment, Medicine, business, medicine.disease, Primary hyperparathyroidism, Surgery
Published: 2020
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35. New data in turner syndrome: Results from a long-term prospective observational study from diagnosis to adulthood

Author: Annamaria Perri, Alessandra Gambineri, Uberto Pagotto, Claudia Oriolo, Emanuela Scarano, Paola Altieri, Carolina Cecchetti, Laura Mazzanti, and Francesca Corzani
Subjects: Pediatrics, medicine.medical_specialty, business.industry, Turner syndrome, Medicine, Observational study, business, medicine.disease, Term (time)
Published: 2020
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36. Prevalence and incidence of atrial fibrillation in a large cohort of adrenal incidentalomas: A long-term retrospective study

Author: Rita Golfieri, Carmine Pizzi, Valentina Vicennati, Carla Pelusi, Silvia Garelli, Alessandra Gambineri, Uberto Pagotto, Eugenio Roberto Cosentino, Lorenzo Tucci, Cristina Mosconi, Caterina Balacchi, Nazzareno Galiè, Pasquale Paolisso, Dalmazi Guido Di, Claudio Borghi, Andrea Repaci, and Flaminia Fanelli
Subjects: Pediatrics, medicine.medical_specialty, business.industry, Incidence (epidemiology), medicine, Retrospective cohort study, Atrial fibrillation, medicine.disease, business, Term (time), Large cohort
Published: 2020
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37. Impatto clinico delle nuove tecnologie in spettrometria di massa per il dosaggio degli steroidi

Author: Guido Di Dalmazi, Alessandra Gambineri, Renato Pasquali, Flaminia Fanelli, Marco Mezzullo, Carla Pelusi, Uberto Pagotto, and Valentina Vicennati
Subjects: business.industry, Medicine, business, Humanities
Abstract: La cromatografia liquida—spettrometria di massa tandem permette un dosaggio steroideo altamente accurato e sensibile, proponendosi di immediata applicabilita al laboratorio clinico. La capacita di determinare ampi pannelli steroidei sta aprendo scenari importanti per il miglioramento di paradigmi diagnostici, e per la definizione di approcci terapeutici avanzati per disturbi quali l’iperandrogenismo femminile, l’ipogonadismo maschile e le neoplasie surrenaliche.
Published: 2019
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38. Endo&Art why Diana is depicted with mild androgenic alopecia?

Author: Alessandra Gambineri and Francesco Trimarchi
Subjects: medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Hyperandrogenism, Medicine, business, medicine.disease, Dermatology
Published: 2021
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39. An International Consortium Update: Pathophysiology, Diagnosis, and Treatment of Polycystic Ovarian Syndrome in Adolescence

Author: Abel López-Bermejo, Preeti Dabadghao, Sharon E. Oberfield, Cecilia Garcia Rudaz, R. Jeffrey Chang, Lourdes Ibáñez, Rachel H Tao, Dipesalema Joel, Feyza Darendeliler, Reiko Horikawa, Kathleen M. Hoeger, Richard J. Auchus, Alessandra Gambineri, Alexia S Peña, Bulent O. Yildiz, Manuel Tena-Sempere, Nancy Samir Elbarbary, Ken K. Ong, Francis de Zegher, Ethel Codner, Haya Alkhayyat, Thomas Reinehr, Peter A. Lee, Asma Deeb, Selma F. Witchel, Nicola Santoro, L, Ibáñez, Oberfield, Se, Witchel, S, Auchus, Rj, Chang, Rj, Codner, E, Dabadghao, P, Darendeliler, F, Elbarbary, N, Gambineri, A, Garcia Rudaz, C, Hoeger, Km, López-Bermejo, A, Ong, K, Peña, A, Reinehr, T, Santoro, N, Tena-Sempere, M, Tao, R, Yildiz, Bo, Alkhayyat, H, Deeb, A, Joel, D, Horikawa, R, de Zegher, F, Lee, Pa., and İç Hastalıkları
Subjects: Anti-androgen, Hirsutism, medicine.medical_specialty, Pediatrics, Adolescent, endocrine system diseases, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Menstrual irregularitie, Endocrinology & Metabolism, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Insulin resistance, Hyperinsulinism, medicine, Hyperinsulinemia, Humans, Insulin sensitizers, Obesity, Polycystic ovary syndrome, hirsutism, Gynecology, 030219 obstetrics & reproductive medicine, Polycystic ovarian morphology, business.industry, Hyperandrogenism, nutritional and metabolic diseases, Congresses as Topic, medicine.disease, Polycystic ovary, female genital diseases and pregnancy complications, Metformin, Pediatrics, Perinatology and Child Health, Menstrual irregularities, Menarche, Female, Insulin sensitizer, business, medicine.drug
Abstract: This paper represents an international collaboration of paediatric endocrine and other societies (listed in the Appendix) under the International Consortium of Paediatric Endocrinology (ICPE) aiming to improve worldwide care of adolescent girls with polycystic ovary syndrome (PCOS)1. The manuscript examines pathophysiology and guidelines for the diagnosis and management of PCOS during adolescence. The complex pathophysiology of PCOS involves the interaction of genetic and epigenetic changes, primary ovarian abnormalities, neuroendocrine alterations, and endocrine and metabolic modifiers such as anti-Müllerian hormone, hyperinsulinemia, insulin resistance, adiposity, and adiponectin levels. Appropriate diagnosis of adolescent PCOS should include adequate and careful evaluation of symptoms, such as hirsutism, severe acne, and menstrual irregularities 2 years beyond menarche, and elevated androgen levels. Polycystic ovarian morphology on ultrasound without hyperandrogenism or menstrual irregularities should not be used to diagnose adolescent PCOS. Hyperinsulinemia, insulin resistance, and obesity may be present in adolescents with PCOS, but are not considered to be diagnostic criteria. Treatment of adolescent PCOS should include lifestyle intervention, local therapies, and medications. Insulin sensitizers like metformin and oral contraceptive pills provide short-term benefits on PCOS symptoms. There are limited data on anti-androgens and combined therapies showing additive/synergistic actions for adolescents. Reproductive aspects and transition should be taken into account when managing adolescents.
Published: 2017
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40. Albiglutide and cardiovascular outcomes in patients with type 2 diabetes and cardiovascular disease (Harmony Outcomes): a double-blind, randomised placebo-controlled trial

Author: Adrian F Hernandez, Jennifer B Green, Salim Janmohamed, Ralph B D'Agostino, Christopher B Granger, Nigel P Jones, Lawrence A Leiter, Anne E Rosenberg, Kristina N Sigmon, Matthew C Somerville, Karl M Thorpe, John J V McMurray, Stefano Del Prato, John J.V. McMurray, Ralph B. D'Agostino, Christopher B. Granger, Adrian F. Hernandez, Lawrence A. Leiter, Robert M Califf, Rury Holman, David DeMets, Matthew Riddle, Shaun Goodman, Darren McGuire, Karen Alexander, Adam Devore, Chiara Melloni, Chetan Patel, David Kong, Gerald Bloomfield, Matthew Roe, Pierluigi Tricoci, Rob Harrison, Renato Lopes, Robin Mathews, Rajendra Mehta, William Schuyler Jones, Sreekanth Vemulapalli, Thomas Povsic, Zubin Eapen, Keith Dombrowski, Brad Kolls, Dedrick Jordan, Andrew Ambrosy, Stephen Greene, Aditya Mandawat, Jay Shavadia, Lauren Cooper, Abhinav Sharma, Patricia Guimaraes, Daniel Friedman, Matt Wilson, Patricia Endsley, Tracy Gentry, Jeannie Collier, Kathleen Perez, Kourtnei James, Jennifer Roush, Connie Pope, Christina Howell, Megan Johnson, Matt Bailey, Joanna Cole, Teresa Akers, Beth Vandyne, Betsy Thomas, Jenny Rich, Susan Bartone, Gail Beaulieu, Kim Brown, Tuan Chau, Tamra Christian, Rebecca Coker, Deb Greene, Trevorlyn Haddock, Wendy Jenkins, Ghazala Haque, Marsha Marquess, Jean Pesarchick, Renee Rethaford, Allegra Stone, Firas Al Kawas, Michelle Anderson, Robert Enns, Isaac Sinay, Chantal Mathieu, Victor Yordanov, Irene Hramiak, Martin Haluzik, Søren Galatius, Bruno Guerci, Michael Nauck, Ilias Migdalis, Choon Beng Kathryn Tan, Gyozo Kocsis, Andrea Giaccari, Moon Kyu Lee, Ernesto German Cardona Muñoz, Jan Cornel, Kare Birkeland, Miguel Pinto, Louie Tirador, Martyna Olesinska-Mader, Marina Shestakova, Larry Distiller, Jose Lopez-Sendon, Bjorn Eliasson, Chern-En Chiang, Suphot Srimahachota, Boris Mankovsky, M Angelyn Bethel, Kathleen Dungan, Mikhail Kosiborod, Andres Alvarisqueta, Jorge Baldovino, Diego Besada, Pedro Calella, Maria Cecilia Cantero, Patricia Castaño, Alejandro Chertkoff, Jesus Cuadrado, Luis De Loredo, Andrea Dominguez, Maria Vanesa Español, Hernan Finkelstein, Gustavo Frechtel, Jose Fretes, Natalia Garrido Santos, Joaquin Gonzalez, Marcos Litvak, Juan Loureyro, Laura Maffei, Natacha Maldonado, Diego Mohr Gasparini, Silvia Orio, Federico Perez Manghi, Nelson Rodriguez Papini, Jorgelina Sala, Pablo Schygiel, Georgina Sposetti, Maria Ulla, Fernando Verra, Silvina Zabalua, Cesar Zaidman, Laurent Crenier, Corinne Debroye, Francis Duyck, André Scheen, Luc Van Gaal, Chris Vercammen, Velichka Damyanova, Stefan Dimitrov, Snezhina Kovacheva, Lachezar Lozanov, Viktor Margaritov, Rositsa Mihaylova-Shumkova, Antoaneta Nikolaeva, Zhasmina Stoyanova, Ronald Akhras, Yves Beaudry, Jacques Bedard, Joseph Berlingieri, Raja Chehayeb, Stephen Cheung, James Conway, Jean Cusson, Anthony Della Siega, Richard Dumas, Peter Dzongowski, Murdo Ferguson, Daniel Gaudet, Francois Grondin, Anil Gupta, Milan Gupta, Frank Halperin, Pierre-Alain Houle, Michael Jones, Simon Kouz, Christopher Kovacs, Daniel Landry, Eva Lonn, William O'Mahony, Sean Peterson, Dennis Reich, Alan Rosenbloom, Francois St-Maurice, Barna Tugwell, Saul Vizel, Vincent Woo, Tomas Brychta, Vladimir Cech, Eva Dvorakova, Tomas Edelsberger, Katarina Halciakova, Jarmila Krizova, Jiri Lastuvka, Martin Piperek, Vera Prymkova, Lea Raclavska, Elena Silhova, Robin Urbanek, Jan Vrkoc, Ulla Andersen, Jens Brønnum-Schou, Jens Hove, Jan Skov Jensen, Lars Kober, Ole Peter Kristiansen, Per Lund, Thomas Melchior, Ole Nyvad, Morten Schou, Alain Boye, Didier Cadinot, Didier Gouet, Patrick Henry, Laurence Kessler, Jean-Daniel Lalau, Catherine Petit, Jean-Francois Thuan, Christel Voinot, Julien Vouillarmet, Christoph Axthelm, Dirk Berger, Tasso Bieler, Andreas Birkenfeld, Jochen Bott, Klaus Busch, Karel Caca, Julia Chevts, Torsten Donaubauer, Rudolf Erlinger, Klaus Funke, Josef Grosskopf, Andreas Hagenow, Monika Hamann, Manfred Hartard, Peter Heymer, Wolfgang Huppertz, Gabriele Illies, Stephan Jacob, Thomas Jung, Gerd Kahrmann, Petra Kast, Monika Kellerer, Hans-Peter Kempe, Andrei Khariouzov, Gerhard Klausmann, Christiane Klein, Uwe Kleinecke-Pohl, Klaus Kleinertz, Thorsten Koch, Christine Kosch, Babette Lorra, Joerg Luedemann, Matthias Luttermann, Stephan Maxeiner, Karsten Milek, Andrea Moelle, Gerhard Neumann, Ruth Nischik, Edith Oehrig-Pohl, Georg Plassmann, Lars Pohlmeier, Felix Proepper, Stefan Regner, Werner Rieker, Ludger Rose, Holger Samer, Joachim Sauter, Frank Schaper, Clemens Schiffer, Juergen Schmidt, Bernd-M. Scholz, Joerg Schulze, Alexander Segner, Jochen Seufert, Helena Sigal, Joerg Steindorf, Juergen Stockhausen, Petra Stuebler, Heidrun Taeschner, Dietrich Tews, Diethelm Tschoepe, Karl Wilhelm, Helga Zeller-Stefan, Iakovos Avramidis, Stavros Bousboulas, Magdalini Bristianou, Georgios Dimitriadis, Moses Elisaf, Kalliopi Kotsa, Andreas Melidonis, Asimina Mitrakou, Emmanouil Pagkalos, Nikolaos Papanas, Angelos Pappas, Christos Sampanis, Nikolaos Tentolouris, Apostolos Tsapas, Glykeria Tzatzagou, Risa Ozaki, Csaba Hajdú, Eleonóra Harcsa, Laszlo Konyves, János Mucsi, Zsolt Pauker, Gizella Petró, Zsolt Plés, Katalin Revesz, Vangel Sándor, Viktor Vass, Angelo Avogaro, Massimo Boemi, Riccardo Bonadonna, Agostino Consoli, Salvatore De Cosmo, Paolo Di Bartolo, Francesco Dotta, Simona Frontoni, Marianna Galetta, Alessandra Gambineri, Carmine Gazzaruso, Francesco Giorgino, Davide Lauro, Emanuela Orsi, Giuseppe Paolisso, Gabriele Perriello, Piermarco Piatti, Antonio Pontiroli, Paola Ponzani, Angela Albarosa Rivellese, Giorgio Sesti, Giancarlo Tonolo, Roberto Trevisan, Chul Woo Ahn, Sei-Hyun Baik, Bong-Soo Cha, Choon-Hee Chung, Hak Chul Jang, Chong-Jin Kim, Hye Soon Kim, In Joo Kim, Eun Young Lee, Hyoung Woo Lee, Kwan-Woo Lee, Keon-Woong Moon, June Namgung, Kyong Soo Park, Soon Jib Yoo, Jaemyung Yu, Edmundo-Alfredo Bayram Llamas, Jose-Luis Cervantes-Escárcega, Luis Fernando Flota-Cervera, José Gerardo González-González, Sara Pascoe-Gonzalez, Emilia Susana Pelayo-Orozco, Santiago-Paulino Ramirez-Diaz, Arturo Saldana-Mendoza, Carlos Sánchez Jerjes-Díaz, Jose Juan Torres-Colores, Maricela Vidrio-Velázquez, Juan Villagordoa-Mesa, Hugo Peter Beijerbacht, Reginald G.E.J. Groutars, Boudewijn A Hoek, Pieter A.M. Hoogslag, Adriaan Kooy, Johannes A. Kragten, Aloysius G. Lieverse, Hendrik P. Swart, Eric P. Viergever, Jørn Ahlqvist, John Cooper, Hanne Gulseth, Gaute Guttormsen, Cecilie Wium, Hugo Arbañil, Jorge Calderon, Luis Camacho, Augusto Dextre Espinoza, Elizabeth Garrido, Alejandro Luna, Helard Manrique, Frederick Massucco Revoredo, Rolando Vargas Gonzales, Luis Zapata Rincon, Carlos Zubiate, Geraldine Ebo, Ellen Morales-Palomares, Malgorzata Arciszewska, Marek Banach, Renata Bijata-Bronisz, Tadeusz Derezinski, Waldemar Gadzinski, Jacek Gajek, Katarzyna Klodawska, Ewa Krzyzagorska, Andrzej Madej, Pawel Miekus, Jaroslaw Opiela, Piotr Romanczuk, Anna Siegel, Ewa Skokowska, Andrzej Stankiewicz, Teresa Stasinska, Iwona Trznadel-Morawska, Robert Witek, Sergey Aksentyev, Irina Bondar, Irina Demidova, Alexander Dreval, Olga Ershova, Gagik Galstyan, Alla Garganeeva, Nadezhda Izmozherova, Victoria Karetnikova, Marina Kharakhulakh, Aleksandr Khokhlov, Zhanna Kobalava, Olga Koshelskaya, Elena Kosmacheva, Vladimir Kostin, Natalia Koziolova, Anatoly Kuzin, Victor Lesnov, Tatyana Lysenko, Valentin Markov, Alexander Mayorov, Sergey Moiseev, Svetlana Myasoedova, Nina Petunina, Andrey Rebrov, Ludmila Ruyatkina, Julia Samoylova, Olga Sazonova, Natalia Shilkina, Nadezhda Sokolova, Olga Vasilevskaya, Nelli Verbovaya, Elena Vishneva, Sergey Vorobyev, Natalya Vorokhobina, Olga Zanozina, Elena Zhdanova, Tatyana Zykova, Lesley Burgess, Kathleen Coetzee, Saleem Dawood, Landman Lombard, Ellen Makotoko, Rajendran Moodley, Wessels Oosthuysen, Mohamed Sarvan, Carlos Calvo Gómez, Isidoro Cano Rodríguez, Almudena Castro Conde, Angel Cequier Fillat, Guillem Cuatrecasas Cambra, Fernando de Álvaro Moreno, Luis De Teresa Parreño, Javier Delgado Lista, José Ramón Domínguez Escribano, Santiago Durán García, Javier Elvira González, José María Fernández Rodríguez, Alberto Goday Arno, Ricardo Gomez Huelgas, José Ramón González Juanatey, Antonio Hernandez Mijares, Víctor Alfonso Jiménez Díaz, Esteban Jodar Gimeno, Tomás Lucas Morante, Monica Marazuela, Nieves Martell Claros, Didac Mauricio Puente, Elena Mena Ribas, Juan Francisco Merino Torres, Pedro Mezquita Raya, Andreu Nubiola Calonge, Xavier Ordoñez Sánchez, Jose Maria Pascual Izuel, Verónica Perea Castilla, Antonio Pérez Pérez, Isabel Perez Soto, Miguel Quesada Charneco, Angustias Quesada Simón, Josep Redón Mas, Antonia Rego Iraeta, Maria Rodriguez Alvarez, Irene Rodríguez Rodríguez, José Sabán Ruiz, Alfonso Soto González, Francisco Tinahones Madueno, Carlos Trescoli Serrano, Angels Ulied Armiñana, Erasmus Bachus, Katarina Berndtsson Blom, Ken Eliasson, Pekka Koskinen, Hans Larnefeldt, Cornelia Lif-Tiberg, Carina Linderfalk, Gustav Lund, Pia Lundman, Linda Moris, Åke Olsson, Staffan Salmonsson, Johan Sanmartin Berglund, Folke Sjöberg, Stefan Söderberg, Ingemar Torstensson, Jung-Fu Chen, Kai Jen Tien, Shih-Ting Tseng, Shih-Te Tu, Chih-Yuan Wang, Ji-Hung Wang, Arintaya Phrommintikul, Sukit Yamwong, Woravut Jintapakorn, Pisit Hutayanon, Nakarin Sansanayudh, Larysa Bazhan, Ivan Fushtey, Mariya Grachova, Vitaliy Katerenchuk, Vadym Korpachev, Nonna Kravchun, Oleksandr Larin, Galyna Mykhalchyshyn, Halyna Myshanych, Olga Oleksyk, Valeriia Orlenko, Nataliia Pashkovska, Nataliia Pertseva, Olena Petrosyan, Ivan Smirnov, Maryna Vlasenko, Tetiana Zlova, Myint Aye, Arun Baksi, Mathangi Balasubramani, Ronnie Beboso, Mark Blagden, Charles Bundy, Tobias Cookson, Allan Copland, Alistair Emslie-Smith, Fiona Green, Anthony Gunstone, Basil Issa, Ewart Jackson-Voyzey, Andrew Johnson, Malcolm Maclean, John McKnight, Solomon Muzulu, Ian O'Connell, Babatunde Oyesile, Catherine Patterson, Ewan Pearson, Sam Philip, Paul Smith, Usha Sukumaran, Jalal Abbas, Gaurav Aggarwala, Faiq Akhter, James Andersen, Moise Anglade, Georges Argoud, Mehrdad Ariani, Reswan Ashdji, Ladan Bakhtari, Subhash Banerjee, Andrew Bartlett, Howard Baum, Harold Bays, Richard Beasley, Renata Belfort de Aguiar, Sabrina Benjamin, Ravi Bhagwat, Anuj Bhargava, Bruce Bode, Christina Bratcher, Toby Briskin, Andrew Brockmyre, Raymond Broughton, Judith Brown, Madhusudan Budhraja, Kevin Cannon, Jewell Carr, Harold Cathcart, Arvind Cavale, Louis Chaykin, Deanna Cheung, Richard Childress, Allan Cohen, Jonathan Condit, Erin Cooksey, George Mitchell Cornett, Ira Dauber, William Davila, Luis De Armas, Julius Dean, Robert Detweiler, Ernesto Diaz, Michael Di Giovanna, Isaac Dor, Waymon Drummond, Donald Eagerton, John Earl, Charles Eaton, Howard Ellison, Neil Farris, Thomas Fiel, Anthony Firek, Brian First, Les Forgosh, William French, Winston Gandy, Ronald Garcia, Santosh Gill, Murray Gordon, Michael Guice, Siva Gummadi, Jonathan Hackenyos, Kristen Hairston, Lenita Hanson, Lindsay Harrison, Israel Hartman, John Heitner, Srini Hejeebu, Paul Hermany, Carlos Hernandez-Cassis, Horacio Hidalgo, Alexander Higgins, Hassan Ibrahim, Shahram Jacobs, David Johnson, Parag Joshi, Steven Kaster, Daniel Kellum, Christopher Kim, Ellen Kim, William Kirby, Albert Knouse, Steven Kulback, Mariananda Kumar, Tulsidas Kuruvanka, Ajay Labroo, William Lasswell, John Lentz, Thomas Lenzmeier, David Lewis, Zhaoping Li, Michael Lillestol, Raymond Little, Richard Lorraine, Cecilia McKeown-Biagas, Robert McNeill, Anand Mehta, Alan Miller, Joseph Moran, Emily Morawski, Venkatesh Nadar, Thomas O'Connor, Alberto Odio, Reginald Parker, Rajesh Patel, Lawrence Phillips, George Raad, Aref Rahman, Marina Raikhel, Ajit Raisinghani, Raj Rajan, Neda Rasouli, Frank Rauzi, Kathryn Rohr, Hal Roseman, Sergio Rovner, Fadi Saba, Richard Sachson, Alex Schabauer, Ricky Schneider, Timothy Schuchard, John Sensenbrenner, Yshay Shlesinger, Narendra Singh, Kanagaratnam Sivalingam, Larry Stonesifer, Daniel Storey, David Suh, Mohammed Tahir, Anjanette Tan, Marilyn Tan, Alain Taylon, Maitreya Thakkar, Devjit Tripathy, Gabriel Uwaifo, Amarnath Vedere, Chandra Venugopal, Anthony Vo, Michelle Welch, James Welker, Alexander White, John Willis, Alan Wynne, Shahram Yazdani, Anne Rosenberg, Lauren Price, Kristina Sigmon, Yuliya Lokhngina, Weibing Xing, Robert Overton, Murray Stewart, Janet Stead, Alistair Lindsay, Vickas Patel, Jorge Ross, Joseph Soffer, Shruti Daga, Margaret Sowell, Prashant Patel, Louisa Garvey, Jessica Ackert, Sybil Abraham, Mary Beth Sabol, Desma Altobelli, JuYoung Ha, Mangesh Kulkarni, Matthew Somerville, Drusilla Noronha, Ed Casson, Eddie Zang, Chamandeep Sandhu, Rakesh Kumar, David Chen, Lin Taft, Rajivkumar Patel, June Ye, Jennifer Shannon, Tim Wilson, Charleen Babi, Diane Miller, Karl Thorpe, Rachael Russell, Georgina Bull, Belinda Hereghty, Eva Fernandez-Salazar, Troy Longley, Jill Donaldson, Marie Jarosz, Karen Murphy, Patricia Adams, Peter Smith, Rachel James, Jackie Richards, Sangeeta Sedani, Denise Althouse, David Watson, Jamie Lorimer, Steven Lauder, Ron Schultheis, Terese Womer, Ella Wraight, Wenyan Li, Emma Price-Olsen, Anthony Watson, Aoife Kelly, Patricia McLaughlin, John Fleming, Jessica Schubert, Debra Schleiden, Tara Harris, Rahul Prakash, Jody Breneman, Sameer Deshpande, Aarti Saswadkar, Aditi Kumari, Aditi Shitut, Amruta Raorane, Anisha Karmalkar, Ankita Mhambrey, Archana Bhosale, Ashok Vaphare, Ashwini P Patil, Chaitali Khandelwal, Fayaz Shaik, Madhumitha Nadar, Mounika Karka, Neha Kadgaonkar, Nikita Gupta, Nutan Aher, Omkar Potnis, Pallavi Naicker, Rakesh Shinde, Richa Sharma, Rupali Godse, Sheetal Solanki, Shruti Sahu, Snehal Dumbre, Somesh Kumar, Suradnya Patil, Trisha Mandal, Hernandez, Adrian F, Green, Jennifer B, Janmohamed, Salim, D'Agostino, Ralph B, Granger, Christopher B, Jones, Nigel P, Leiter, Lawrence A, Rosenberg, Anne E, Sigmon, Kristina N, Somerville, Matthew C, Thorpe, Karl M, Mcmurray, John J V, Del Prato, Stefano, Mcmurray, John J. V., D'Agostino, Ralph B., Granger, Christopher B., Hernandez, Adrian F., Leiter, Lawrence A., Califf, Robert M, Holman, Rury, Demets, David, Riddle, Matthew, Goodman, Shaun, Mcguire, Darren, Alexander, Karen, Devore, Adam, Melloni, Chiara, Patel, Chetan, Kong, David, Bloomfield, Gerald, Roe, Matthew, Tricoci, Pierluigi, Harrison, Rob, Lopes, Renato, Mathews, Robin, Mehta, Rajendra, Schuyler Jones, William, Vemulapalli, Sreekanth, Povsic, Thoma, Eapen, Zubin, Dombrowski, Keith, Kolls, Brad, Jordan, Dedrick, Ambrosy, Andrew, Greene, Stephen, Mandawat, Aditya, Shavadia, Jay, Cooper, Lauren, Sharma, Abhinav, Guimaraes, Patricia, Friedman, Daniel, Wilson, Matt, Endsley, Patricia, Gentry, Tracy, Collier, Jeannie, Perez, Kathleen, James, Kourtnei, Roush, Jennifer, Pope, Connie, Howell, Christina, Johnson, Megan, Bailey, Matt, Cole, Joanna, Akers, Teresa, Vandyne, Beth, Thomas, Betsy, Rich, Jenny, Bartone, Susan, Beaulieu, Gail, Brown, Kim, Chau, Tuan, Christian, Tamra, Coker, Rebecca, Greene, Deb, Haddock, Trevorlyn, Jenkins, Wendy, Haque, Ghazala, Marquess, Marsha, Pesarchick, Jean, Rethaford, Renee, Stone, Allegra, Al Kawas, Fira, Anderson, Michelle, Enns, Robert, Sinay, Isaac, Mathieu, Chantal, Yordanov, Victor, Hramiak, Irene, Haluzik, Martin, Galatius, Søren, Guerci, Bruno, Nauck, Michael, Migdalis, Ilia, Tan, Choon Beng Kathryn, Kocsis, Gyozo, Giaccari, Andrea, Lee, Moon Kyu, Muñoz, Ernesto German Cardona, Cornel, Jan, Birkeland, Kare, Pinto, Miguel, Tirador, Louie, Olesinska-Mader, Martyna, Shestakova, Marina, Distiller, Larry, Lopez-Sendon, Jose, Eliasson, Bjorn, Chiang, Chern-En, Srimahachota, Suphot, Mankovsky, Bori, Bethel, M Angelyn, Dungan, Kathleen, Kosiborod, Mikhail, Alvarisqueta, Andre, Baldovino, Jorge, Besada, Diego, Calella, Pedro, Cantero, Maria Cecilia, Castaño, Patricia, Chertkoff, Alejandro, Cuadrado, Jesu, De Loredo, Lui, Dominguez, Andrea, Español, Maria Vanesa, Finkelstein, Hernan, Frechtel, Gustavo, Fretes, Jose, Garrido Santos, Natalia, Gonzalez, Joaquin, Litvak, Marco, Loureyro, Juan, Maffei, Laura, Maldonado, Natacha, Mohr Gasparini, Diego, Orio, Silvia, Perez Manghi, Federico, Rodriguez Papini, Nelson, Sala, Jorgelina, Schygiel, Pablo, Sposetti, Georgina, Ulla, Maria, Verra, Fernando, Zabalua, Silvina, Zaidman, Cesar, Crenier, Laurent, Debroye, Corinne, Duyck, Franci, Scheen, André, Van Gaal, Luc, Vercammen, Chri, Damyanova, Velichka, Dimitrov, Stefan, Kovacheva, Snezhina, Lozanov, Lachezar, Margaritov, Viktor, Mihaylova-Shumkova, Rositsa, Nikolaeva, Antoaneta, Stoyanova, Zhasmina, Akhras, Ronald, Beaudry, Yve, Bedard, Jacque, Berlingieri, Joseph, Chehayeb, Raja, Cheung, Stephen, Conway, Jame, Cusson, Jean, Della Siega, Anthony, Dumas, Richard, Dzongowski, Peter, Ferguson, Murdo, Gaudet, Daniel, Grondin, Francoi, Gupta, Anil, Gupta, Milan, Halperin, Frank, Houle, Pierre-Alain, Jones, Michael, Kouz, Simon, Kovacs, Christopher, Landry, Daniel, Lonn, Eva, O'Mahony, William, Peterson, Sean, Reich, Denni, Rosenbloom, Alan, St-Maurice, Francoi, Tugwell, Barna, Vizel, Saul, Woo, Vincent, Brychta, Toma, Cech, Vladimir, Dvorakova, Eva, Edelsberger, Toma, Halciakova, Katarina, Krizova, Jarmila, Lastuvka, Jiri, Piperek, Martin, Prymkova, Vera, Raclavska, Lea, Silhova, Elena, Urbanek, Robin, Vrkoc, Jan, Andersen, Ulla, Brønnum-Schou, Jen, Hove, Jen, Jensen, Jan Skov, Kober, Lar, Kristiansen, Ole Peter, Lund, Per, Melchior, Thoma, Nyvad, Ole, Schou, Morten, Boye, Alain, Cadinot, Didier, Gouet, Didier, Henry, Patrick, Kessler, Laurence, Lalau, Jean-Daniel, Petit, Catherine, Thuan, Jean-Francoi, Voinot, Christel, Vouillarmet, Julien, Axthelm, Christoph, Berger, Dirk, Bieler, Tasso, Birkenfeld, Andrea, Bott, Jochen, Busch, Klau, Caca, Karel, Chevts, Julia, Donaubauer, Torsten, Erlinger, Rudolf, Funke, Klau, Grosskopf, Josef, Hagenow, Andrea, Hamann, Monika, Hartard, Manfred, Heymer, Peter, Huppertz, Wolfgang, Illies, Gabriele, Jacob, Stephan, Jung, Thoma, Kahrmann, Gerd, Kast, Petra, Kellerer, Monika, Kempe, Hans-Peter, Khariouzov, Andrei, Klausmann, Gerhard, Klein, Christiane, Kleinecke-Pohl, Uwe, Kleinertz, Klau, Koch, Thorsten, Kosch, Christine, Lorra, Babette, Luedemann, Joerg, Luttermann, Matthia, Maxeiner, Stephan, Milek, Karsten, Moelle, Andrea, Neumann, Gerhard, Nischik, Ruth, Oehrig-Pohl, Edith, Plassmann, Georg, Pohlmeier, Lar, Proepper, Felix, Regner, Stefan, Rieker, Werner, Rose, Ludger, Samer, Holger, Sauter, Joachim, Schaper, Frank, Schiffer, Clemen, Schmidt, Juergen, Scholz, Bernd-M., Schulze, Joerg, Segner, Alexander, Seufert, Jochen, Sigal, Helena, Steindorf, Joerg, Stockhausen, Juergen, Stuebler, Petra, Taeschner, Heidrun, Tews, Dietrich, Tschoepe, Diethelm, Wilhelm, Karl, Zeller-Stefan, Helga, Avramidis, Iakovo, Bousboulas, Stavro, Bristianou, Magdalini, Dimitriadis, Georgio, Elisaf, Mose, Kotsa, Kalliopi, Melidonis, Andrea, Mitrakou, Asimina, Pagkalos, Emmanouil, Papanas, Nikolao, Pappas, Angelo, Sampanis, Christo, Tentolouris, Nikolao, Tsapas, Apostolo, Tzatzagou, Glykeria, Ozaki, Risa, Hajdú, Csaba, Harcsa, Eleonóra, Konyves, Laszlo, Mucsi, Jáno, Pauker, Zsolt, Petró, Gizella, Plés, Zsolt, Revesz, Katalin, Sándor, Vangel, Vass, Viktor, Avogaro, Angelo, Boemi, Massimo, Bonadonna, Riccardo, Consoli, Agostino, De Cosmo, Salvatore, Di Bartolo, Paolo, Dotta, Francesco, Frontoni, Simona, Galetta, Marianna, Gambineri, Alessandra, Gazzaruso, Carmine, Giorgino, Francesco, Lauro, Davide, Orsi, Emanuela, Paolisso, Giuseppe, Perriello, Gabriele, Piatti, Piermarco, Pontiroli, Antonio, Ponzani, Paola, Rivellese, Angela Albarosa, Sesti, Giorgio, Tonolo, Giancarlo, Trevisan, Roberto, Ahn, Chul Woo, Baik, Sei-Hyun, Cha, Bong-Soo, Chung, Choon-Hee, Jang, Hak Chul, Kim, Chong-Jin, Kim, Hye Soon, Kim, In Joo, Lee, Eun Young, Lee, Hyoung Woo, Lee, Kwan-Woo, Moon, Keon-Woong, Namgung, June, Park, Kyong Soo, Yoo, Soon Jib, Yu, Jaemyung, Llamas, Edmundo-Alfredo Bayram, Cervantes-Escárcega, Jose-Lui, Flota-Cervera, Luis Fernando, González-González, José Gerardo, Pascoe-Gonzalez, Sara, Pelayo-Orozco, Emilia Susana, Ramirez-Diaz, Santiago-Paulino, Saldana-Mendoza, Arturo, Jerjes-Díaz, Carlos Sánchez, Torres-Colores, Jose Juan, Vidrio-Velázquez, Maricela, Villagordoa-Mesa, Juan, Beijerbacht, Hugo Peter, Groutars, Reginald G. E. J., Hoek, Boudewijn A, Hoogslag, Pieter A. M., Kooy, Adriaan, Kragten, Johannes A., Lieverse, Aloysius G., Swart, Hendrik P., Viergever, Eric P., Ahlqvist, Jørn, Cooper, John, Gulseth, Hanne, Guttormsen, Gaute, Wium, Cecilie, Arbañil, Hugo, Calderon, Jorge, Camacho, Lui, Espinoza, Augusto Dextre, Garrido, Elizabeth, Luna, Alejandro, Manrique, Helard, Revoredo, Frederick Massucco, Gonzales, Rolando Varga, Rincon, Luis Zapata, Zubiate, Carlo, Ebo, Geraldine, Morales-Palomares, Ellen, Arciszewska, Malgorzata, Banach, Marek, Bijata-Bronisz, Renata, Derezinski, Tadeusz, Gadzinski, Waldemar, Gajek, Jacek, Klodawska, Katarzyna, Krzyzagorska, Ewa, Madej, Andrzej, Miekus, Pawel, Opiela, Jaroslaw, Romanczuk, Piotr, Siegel, Anna, Skokowska, Ewa, Stankiewicz, Andrzej, Stasinska, Teresa, Trznadel-Morawska, Iwona, Witek, Robert, Aksentyev, Sergey, Bondar, Irina, Demidova, Irina, Dreval, Alexander, Ershova, Olga, Galstyan, Gagik, Garganeeva, Alla, Izmozherova, Nadezhda, Karetnikova, Victoria, Kharakhulakh, Marina, Khokhlov, Aleksandr, Kobalava, Zhanna, Koshelskaya, Olga, Kosmacheva, Elena, Kostin, Vladimir, Koziolova, Natalia, Kuzin, Anatoly, Lesnov, Victor, Lysenko, Tatyana, Markov, Valentin, Mayorov, Alexander, Moiseev, Sergey, Myasoedova, Svetlana, Petunina, Nina, Rebrov, Andrey, Ruyatkina, Ludmila, Samoylova, Julia, Sazonova, Olga, Shilkina, Natalia, Sokolova, Nadezhda, Vasilevskaya, Olga, Verbovaya, Nelli, Vishneva, Elena, Vorobyev, Sergey, Vorokhobina, Natalya, Zanozina, Olga, Zhdanova, Elena, Zykova, Tatyana, Burgess, Lesley, Coetzee, Kathleen, Dawood, Saleem, Lombard, Landman, Makotoko, Ellen, Moodley, Rajendran, Oosthuysen, Wessel, Sarvan, Mohamed, Calvo Gómez, Carlo, Cano Rodríguez, Isidoro, Castro Conde, Almudena, Cequier Fillat, Angel, Cuatrecasas Cambra, Guillem, de Álvaro Moreno, Fernando, De Teresa Parreño, Lui, Delgado Lista, Javier, Domínguez Escribano, José Ramón, Durán García, Santiago, Elvira González, Javier, Fernández Rodríguez, José María, Goday Arno, Alberto, Gomez Huelgas, Ricardo, González Juanatey, José Ramón, Hernandez Mijares, Antonio, Jiménez Díaz, Víctor Alfonso, Jodar Gimeno, Esteban, Lucas Morante, Tomá, Marazuela, Monica, Martell Claros, Nieve, Mauricio Puente, Didac, Mena Ribas, Elena, Merino Torres, Juan Francisco, Mezquita Raya, Pedro, Nubiola Calonge, Andreu, Ordoñez Sánchez, Xavier, Pascual Izuel, Jose Maria, Perea Castilla, Verónica, Pérez Pérez, Antonio, Perez Soto, Isabel, Quesada Charneco, Miguel, Quesada Simón, Angustia, Redón Mas, Josep, Rego Iraeta, Antonia, Rodriguez Alvarez, Maria, Rodríguez Rodríguez, Irene, Sabán Ruiz, José, Soto González, Alfonso, Tinahones Madueno, Francisco, Trescoli Serrano, Carlo, Ulied Armiñana, Angel, Bachus, Erasmu, Berndtsson Blom, Katarina, Eliasson, Ken, Koskinen, Pekka, Larnefeldt, Han, Lif-Tiberg, Cornelia, Linderfalk, Carina, Lund, Gustav, Lundman, Pia, Moris, Linda, Olsson, Åke, Salmonsson, Staffan, Sanmartin Berglund, Johan, Sjöberg, Folke, Söderberg, Stefan, Torstensson, Ingemar, Chen, Jung-Fu, Tien, Kai Jen, Tseng, Shih-Ting, Tu, Shih-Te, Wang, Chih-Yuan, Wang, Ji-Hung, Phrommintikul, Arintaya, Yamwong, Sukit, Jintapakorn, Woravut, Hutayanon, Pisit, Sansanayudh, Nakarin, Bazhan, Larysa, Fushtey, Ivan, Grachova, Mariya, Katerenchuk, Vitaliy, Korpachev, Vadym, Kravchun, Nonna, Larin, Oleksandr, Mykhalchyshyn, Galyna, Myshanych, Halyna, Oleksyk, Olga, Orlenko, Valeriia, Pashkovska, Nataliia, Pertseva, Nataliia, Petrosyan, Olena, Smirnov, Ivan, Vlasenko, Maryna, Zlova, Tetiana, Aye, Myint, Baksi, Arun, Balasubramani, Mathangi, Beboso, Ronnie, Blagden, Mark, Bundy, Charle, Cookson, Tobia, Copland, Allan, Emslie-Smith, Alistair, Green, Fiona, Gunstone, Anthony, Issa, Basil, Jackson-Voyzey, Ewart, Johnson, Andrew, Maclean, Malcolm, Mcknight, John, Muzulu, Solomon, O'Connell, Ian, Oyesile, Babatunde, Patterson, Catherine, Pearson, Ewan, Philip, Sam, Smith, Paul, Sukumaran, Usha, Abbas, Jalal, Aggarwala, Gaurav, Akhter, Faiq, Andersen, Jame, Anglade, Moise, Argoud, George, Ariani, Mehrdad, Ashdji, Reswan, Bakhtari, Ladan, Banerjee, Subhash, Bartlett, Andrew, Baum, Howard, Bays, Harold, Beasley, Richard, Belfort de Aguiar, Renata, Benjamin, Sabrina, Bhagwat, Ravi, Bhargava, Anuj, Bode, Bruce, Bratcher, Christina, Briskin, Toby, Brockmyre, Andrew, Broughton, Raymond, Brown, Judith, Budhraja, Madhusudan, Cannon, Kevin, Carr, Jewell, Cathcart, Harold, Cavale, Arvind, Chaykin, Loui, Cheung, Deanna, Childress, Richard, Cohen, Allan, Condit, Jonathan, Cooksey, Erin, Cornett, George Mitchell, Dauber, Ira, Davila, William, De Armas, Lui, Dean, Juliu, Detweiler, Robert, Diaz, Ernesto, Di Giovanna, Michael, Dor, Isaac, Drummond, Waymon, Eagerton, Donald, Earl, John, Eaton, Charle, Ellison, Howard, Farris, Neil, Fiel, Thoma, Firek, Anthony, First, Brian, Forgosh, Le, French, William, Gandy, Winston, Garcia, Ronald, Gill, Santosh, Gordon, Murray, Guice, Michael, Gummadi, Siva, Hackenyos, Jonathan, Hairston, Kristen, Hanson, Lenita, Harrison, Lindsay, Hartman, Israel, Heitner, John, Hejeebu, Srini, Hermany, Paul, Hernandez-Cassis, Carlo, Hidalgo, Horacio, Higgins, Alexander, Ibrahim, Hassan, Jacobs, Shahram, Johnson, David, Joshi, Parag, Kaster, Steven, Kellum, Daniel, Kim, Christopher, Kim, Ellen, Kirby, William, Knouse, Albert, Kulback, Steven, Kumar, Mariananda, Kuruvanka, Tulsida, Labroo, Ajay, Lasswell, William, Lentz, John, Lenzmeier, Thoma, Lewis, David, Li, Zhaoping, Lillestol, Michael, Little, Raymond, Lorraine, Richard, McKeown-Biagas, Cecilia, Mcneill, Robert, Mehta, Anand, Miller, Alan, Moran, Joseph, Morawski, Emily, Nadar, Venkatesh, O'Connor, Thoma, Odio, Alberto, Parker, Reginald, Patel, Rajesh, Phillips, Lawrence, Raad, George, Rahman, Aref, Raikhel, Marina, Raisinghani, Ajit, Rajan, Raj, Rasouli, Neda, Rauzi, Frank, Rohr, Kathryn, Roseman, Hal, Rovner, Sergio, Saba, Fadi, Sachson, Richard, Schabauer, Alex, Schneider, Ricky, Schuchard, Timothy, Sensenbrenner, John, Shlesinger, Yshay, Singh, Narendra, Sivalingam, Kanagaratnam, Stonesifer, Larry, Storey, Daniel, Suh, David, Tahir, Mohammed, Tan, Anjanette, Tan, Marilyn, Taylon, Alain, Thakkar, Maitreya, Tripathy, Devjit, Uwaifo, Gabriel, Vedere, Amarnath, Venugopal, Chandra, Vo, Anthony, Welch, Michelle, Welker, Jame, White, Alexander, Willis, John, Wynne, Alan, Yazdani, Shahram, Rosenberg, Anne, Price, Lauren, Sigmon, Kristina, Lokhngina, Yuliya, Xing, Weibing, Overton, Robert, Stewart, Murray, Stead, Janet, Lindsay, Alistair, Patel, Vicka, Ross, Jorge, Soffer, Joseph, Daga, Shruti, Sowell, Margaret, Patel, Prashant, Garvey, Louisa, Ackert, Jessica, Abraham, Sybil, Sabol, Mary Beth, Altobelli, Desma, Ha, Juyoung, Kulkarni, Mangesh, Somerville, Matthew, Noronha, Drusilla, Casson, Ed, Zang, Eddie, Sandhu, Chamandeep, Kumar, Rakesh, Chen, David, Taft, Lin, Patel, Rajivkumar, Ye, June, Shannon, Jennifer, Wilson, Tim, Babi, Charleen, Miller, Diane, Thorpe, Karl, Russell, Rachael, Bull, Georgina, Hereghty, Belinda, Fernandez-Salazar, Eva, Longley, Troy, Donaldson, Jill, Jarosz, Marie, Murphy, Karen, Adams, Patricia, Smith, Peter, James, Rachel, Richards, Jackie, Sedani, Sangeeta, Althouse, Denise, Watson, David, Lorimer, Jamie, Lauder, Steven, Schultheis, Ron, Womer, Terese, Wraight, Ella, Li, Wenyan, Price-Olsen, Emma, Watson, Anthony, Kelly, Aoife, Mclaughlin, Patricia, Fleming, John, Schubert, Jessica, Schleiden, Debra, Harris, Tara, Prakash, Rahul, Breneman, Jody, Deshpande, Sameer, Saswadkar, Aarti, Kumari, Aditi, Shitut, Aditi, Raorane, Amruta, Karmalkar, Anisha, Mhambrey, Ankita, Bhosale, Archana, Vaphare, Ashok, Patil, Ashwini P, Khandelwal, Chaitali, Shaik, Fayaz, Nadar, Madhumitha, Karka, Mounika, Kadgaonkar, Neha, Gupta, Nikita, Aher, Nutan, Potnis, Omkar, Naicker, Pallavi, Shinde, Rakesh, Sharma, Richa, Godse, Rupali, Solanki, Sheetal, Sahu, Shruti, Dumbre, Snehal, Kumar, Somesh, Patil, Suradnya, Mandal, Trisha, McMurray, John J V, McMurray, John J.V., DeMets, David, McGuire, Darren, Groutars, Reginald G.E.J., Hoogslag, Pieter A.M., McKnight, John, McNeill, Robert, Ha, JuYoung, McLaughlin, Patricia, Hernandez, A. F., Green, J. B., Janmohamed, S., D'Agostino, R. B., Granger, C. B., Jones, N. P., Leiter, L. A., Rosenberg, A. E., Sigmon, K. N., Somerville, M. C., Thorpe, K. M., Mcmurray, J. J. V., Del Prato, S., Califf, R. M., Holman, R., Demets, D., Riddle, M., Goodman, S., Mcguire, D., Alexander, K., Devore, A., Melloni, C., Patel, C., Kong, D., Bloomfield, G., Roe, M., Tricoci, P., Harrison, R., Lopes, R., Mathews, R., Mehta, R., Schuyler Jones, W., Vemulapalli, S., Povsic, T., Eapen, Z., Dombrowski, K., Kolls, B., Jordan, D., Ambrosy, A., Greene, S., Mandawat, A., Shavadia, J., Cooper, L., Sharma, A., Guimaraes, P., Friedman, D., Wilson, M., Endsley, P., Gentry, T., Collier, J., Perez, K., James, K., Roush, J., Pope, C., Howell, C., Johnson, M., Bailey, M., Cole, J., Akers, T., Vandyne, B., Thomas, B., Rich, J., Bartone, S., Beaulieu, G., Brown, K., Chau, T., Christian, T., Coker, R., Greene, D., Haddock, T., Jenkins, W., Haque, G., Marquess, M., Pesarchick, J., Rethaford, R., Stone, A., Al Kawas, F., Anderson, M., Enns, R., Sinay, I., Mathieu, C., Yordanov, V., Hramiak, I., Haluzik, M., Galatius, S., Guerci, B., Nauck, M., Migdalis, I., Tan, C. B. K., Kocsis, G., Giaccari, A., Lee, M. K., Munoz, E. G. C., Cornel, J., Birkeland, K., Pinto, M., Tirador, L., Olesinska-Mader, M., Shestakova, M., Distiller, L., Lopez-Sendon, J., Eliasson, B., Chiang, C. -E., Srimahachota, S., Mankovsky, B., Bethel, M. A., Dungan, K., Kosiborod, M., Alvarisqueta, A., Baldovino, J., Besada, D., Calella, P., Cantero, M. C., Castano, P., Chertkoff, A., Cuadrado, J., De Loredo, L., Dominguez, A., Espanol, M. 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Z., Zubiate, C., Ebo, G., Morales-Palomares, E., Arciszewska, M., Banach, M., Bijata-Bronisz, R., Derezinski, T., Gadzinski, W., Gajek, J., Klodawska, K., Krzyzagorska, E., Madej, A., Miekus, P., Opiela, J., Romanczuk, P., Siegel, A., Skokowska, E., Stankiewicz, A., Stasinska, T., Trznadel-Morawska, I., Witek, R., Aksentyev, S., Bondar, I., Demidova, I., Dreval, A., Ershova, O., Galstyan, G., Garganeeva, A., Izmozherova, N., Karetnikova, V., Kharakhulakh, M., Khokhlov, A., Kobalava, Z., Koshelskaya, O., Kosmacheva, E., Kostin, V., Koziolova, N., Kuzin, A., Lesnov, V., Lysenko, T., Markov, V., Mayorov, A., Moiseev, S., Myasoedova, S., Petunina, N., Rebrov, A., Ruyatkina, L., Samoylova, J., Sazonova, O., Shilkina, N., Sokolova, N., Vasilevskaya, O., Verbovaya, N., Vishneva, E., Vorobyev, S., Vorokhobina, N., Zanozina, O., Zhdanova, E., Zykova, T., Burgess, L., Coetzee, K., Dawood, S., Lombard, L., Makotoko, E., Moodley, R., Oosthuysen, W., Sarvan, M., Calvo Gomez, C., Cano Rodriguez, I., Castro Conde, A., Cequier Fillat, A., Cuatrecasas Cambra, G., de Alvaro Moreno, F., De Teresa Parreno, L., Delgado Lista, J., Dominguez Escribano, J. 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B., Altobelli, D., Ha, J., Kulkarni, M., Noronha, D., Casson, E., Zang, E., Sandhu, C., Kumar, R., Chen, D., Taft, L., Ye, J., Shannon, J., Wilson, T., Babi, C., Miller, D., Russell, R., Bull, G., Hereghty, B., Fernandez-Salazar, E., Longley, T., Donaldson, J., Jarosz, M., Murphy, K., Adams, P., James, R., Richards, J., Sedani, S., Althouse, D., Watson, D., Lorimer, J., Lauder, S., Schultheis, R., Womer, T., Wraight, E., Li, W., Price-Olsen, E., Watson, A., Kelly, A., Mclaughlin, P., Fleming, J., Schubert, J., Schleiden, D., Harris, T., Prakash, R., Breneman, J., Deshpande, S., Saswadkar, A., Kumari, A., Shitut, A., Raorane, A., Karmalkar, A., Mhambrey, A., Bhosale, A., Vaphare, A., Patil, A. 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Banach, M, Bijata-Bronisz, R, Derezinski, T, Gadzinski, W, Gajek, J, Klodawska, K, Krzyzagorska, E, Madej, A, Miekus, P, Opiela, J, Romanczuk, P, Siegel, A, Skokowska, E, Stankiewicz, A, Stasinska, T, Trznadel-Morawska, I, Witek, R, Aksentyev, S, Bondar, I, Demidova, I, Dreval, A, Ershova, O, Galstyan, G, Garganeeva, A, Izmozherova, N, Karetnikova, V, Kharakhulakh, M, Khokhlov, A, Kobalava, Z, Koshelskaya, O, Kosmacheva, E, Kostin, V, Koziolova, N, Kuzin, A, Lesnov, V, Lysenko, T, Markov, V, Mayorov, A, Moiseev, S, Myasoedova, S, Petunina, N, Rebrov, A, Ruyatkina, L, Samoylova, J, Sazonova, O, Shilkina, N, Sokolova, N, Vasilevskaya, O, Verbovaya, N, Vishneva, E, Vorobyev, S, Vorokhobina, N, Zanozina, O, Zhdanova, E, Zykova, T, Burgess, L, Coetzee, K, Dawood, S, Lombard, L, Makotoko, E, Moodley, R, Oosthuysen, W, Sarvan, M, Calvo Gomez, C, Cano Rodriguez, I, Castro Conde, A, Cequier Fillat, A, Cuatrecasas Cambra, G, de Alvaro Moreno, F, De Teresa Parreno, L, Delgado Lista, J, Dominguez Escribano, J, Duran Garcia, S, Elvira Gonzalez, J, Fernandez Rodriguez, J, Goday Arno, A, Gomez Huelgas, R, Gonzalez Juanatey, J, Hernandez Mijares, A, Jimenez Diaz, V, Jodar Gimeno, E, Lucas Morante, T, Marazuela, M, Martell Claros, N, Mauricio Puente, D, Mena Ribas, E, Merino Torres, J, Mezquita Raya, P, Nubiola Calonge, A, Ordonez Sanchez, X, Pascual Izuel, J, Perea Castilla, V, Perez Perez, A, Perez Soto, I, Quesada Charneco, M, Quesada Simon, A, Redon Mas, J, Rego Iraeta, A, Rodriguez Alvarez, M, Rodriguez Rodriguez, I, Saban Ruiz, J, Soto Gonzalez, A, Tinahones Madueno, F, Trescoli Serrano, C, Ulied Arminana, A, Bachus, E, Berndtsson Blom, K, Eliasson, K, Koskinen, P, Larnefeldt, H, Lif-Tiberg, C, Linderfalk, C, Lund, G, Lundman, P, Moris, L, Olsson, A, Salmonsson, S, Sanmartin Berglund, J, Sjoberg, F, Soderberg, S, Torstensson, I, Chen, J, Tien, K, Tseng, S, Tu, S, Wang, C, Wang, J, Phrommintikul, A, Yamwong, S, Jintapakorn, W, Hutayanon, P, Sansanayudh, N, Bazhan, L, Fushtey, I, Grachova, M, Katerenchuk, V, Korpachev, V, Kravchun, N, Larin, O, Mykhalchyshyn, G, Myshanych, H, Oleksyk, O, Orlenko, V, Pashkovska, N, Pertseva, N, Petrosyan, O, Smirnov, I, Vlasenko, M, Zlova, T, Aye, M, Baksi, A, Balasubramani, M, Beboso, R, Blagden, M, Bundy, C, Cookson, T, Copland, A, Emslie-Smith, A, Green, F, Gunstone, A, Issa, B, Jackson-Voyzey, E, Johnson, A, Maclean, M, Mcknight, J, Muzulu, S, O'Connell, I, Oyesile, B, Patterson, C, Pearson, E, Philip, S, Smith, P, Sukumaran, U, Abbas, J, Aggarwala, G, Akhter, F, Andersen, J, Anglade, M, Argoud, G, Ariani, M, Ashdji, R, Bakhtari, L, Banerjee, S, Bartlett, A, Baum, H, Bays, H, Beasley, R, Belfort de Aguiar, R, Benjamin, S, Bhagwat, R, Bhargava, A, Bode, B, Bratcher, C, Briskin, T, Brockmyre, A, Broughton, R, Brown, J, Budhraja, M, Cannon, K, Carr, J, Cathcart, H, Cavale, A, Chaykin, L, Cheung, D, Childress, R, Cohen, A, Condit, J, Cooksey, E, Cornett, G, Dauber, I, Davila, W, De Armas, L, Dean, J, Detweiler, R, Diaz, E, Di Giovanna, M, Dor, I, Drummond, W, Eagerton, D, Earl, J, Eaton, C, Ellison, H, Farris, N, Fiel, T, Firek, A, First, B, Forgosh, L, French, W, Gandy, W, Garcia, R, Gill, S, Gordon, M, Guice, M, Gummadi, S, Hackenyos, J, Hairston, K, Hanson, L, Harrison, L, Hartman, I, Heitner, J, Hejeebu, S, Hermany, P, Hernandez-Cassis, C, Hidalgo, H, Higgins, A, Ibrahim, H, Jacobs, S, Johnson, D, Joshi, P, Kaster, S, Kellum, D, Kim, E, Kirby, W, Knouse, A, Kulback, S, Kumar, M, Kuruvanka, T, Labroo, A, Lasswell, W, Lentz, J, Lenzmeier, T, Lewis, D, Li, Z, Lillestol, M, Little, R, Lorraine, R, McKeown-Biagas, C, Mcneill, R, Mehta, A, Miller, A, Moran, J, Morawski, E, Nadar, V, O'Connor, T, Odio, A, Parker, R, Patel, R, Phillips, L, Raad, G, Rahman, A, Raikhel, M, Raisinghani, A, Rajan, R, Rasouli, N, Rauzi, F, Rohr, K, Roseman, H, Rovner, S, Saba, F, Sachson, R, Schabauer, A, Schneider, R, Schuchard, T, Sensenbrenner, J, Shlesinger, Y, Singh, N, Sivalingam, K, Stonesifer, L, Storey, D, Suh, D, Tahir, M, Tan, A, Tan, M, Taylon, A, Thakkar, M, Tripathy, D, Uwaifo, G, Vedere, A, Venugopal, C, Vo, A, Welch, M, Welker, J, White, A, Willis, J, Wynne, A, Yazdani, S, Price, L, Lokhngina, Y, Xing, W, Overton, R, Stewart, M, Stead, J, Lindsay, A, Patel, V, Ross, J, Soffer, J, Daga, S, Sowell, M, Patel, P, Garvey, L, Ackert, J, Abraham, S, Sabol, M, Altobelli, D, Ha, J, Kulkarni, M, Noronha, D, Casson, E, Zang, E, Sandhu, C, Kumar, R, Chen, D, Taft, L, Ye, J, Shannon, J, Wilson, T, Babi, C, Miller, D, Russell, R, Bull, G, Hereghty, B, Fernandez-Salazar, E, Longley, T, Donaldson, J, Jarosz, M, Murphy, K, Adams, P, James, R, Richards, J, Sedani, S, Althouse, D, Watson, D, Lorimer, J, Lauder, S, Schultheis, R, Womer, T, Wraight, E, Li, W, Price-Olsen, E, Watson, A, Kelly, A, Mclaughlin, P, Fleming, J, Schubert, J, Schleiden, D, Harris, T, Prakash, R, Breneman, J, Deshpande, S, Saswadkar, A, Kumari, A, Shitut, A, Raorane, A, Karmalkar, A, Mhambrey, A, Bhosale, A, Vaphare, A, Patil, A, Khandelwal, C, Shaik, F, Nadar, M, Karka, M, Kadgaonkar, N, Gupta, N, Aher, N, Potnis, O, Naicker, P, Shinde, R, Sharma, R, Godse, R, Solanki, S, Sahu, S, Dumbre, S, Kumar, S, Patil, S, and Mandal, T
Subjects: Male, Placebo-controlled study, Myocardial Infarction, alanine aminotransferase, albiglutide, bilirubin, placebo, antidiabetic agent, glucagon like peptide 1, rGLP-1 protein, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Glucagon-Like Peptide 1, Cardiovascular Disease, Medicine(all), education.field_of_study, Subcutaneous, Medicine (all), albigutide, Hazard ratio, General Medicine, Middle Aged, Albiglutide, Stroke, Treatment Outcome, Tolerability, Cardiovascular Diseases, Female, type 2 diabetes, Type 2, Human, Adult, medicine.medical_specialty, Injections, Subcutaneous, Population, 030209 endocrinology & metabolism, Placebo, Injections, Subcutaneou, Drug Administration Schedule, Injections, 03 medical and health sciences, Double-Blind Method, Internal medicine, Diabetes Mellitus, medicine, Humans, Hypoglycemic Agents, education, Aged, Diabetes Mellitus, Type 2, Hypoglycemic Agent, business.industry, Semaglutide, Settore MED/13 - ENDOCRINOLOGIA, Harmony, business
Abstract: Background: \ud Glucagon-like peptide 1 receptor agonists differ in chemical structure, duration of action, and in their effects on clinical outcomes. The cardiovascular effects of once-weekly albiglutide in type 2 diabetes are unknown. We aimed to determine the safety and efficacy of albiglutide in preventing cardiovascular death, myocardial infarction, or stroke.\ud \ud Methods: \ud We did a double-blind, randomised, placebo-controlled trial in 610 sites across 28 countries. We randomly assigned patients aged 40 years and older with type 2 diabetes and cardiovascular disease (at a 1:1 ratio) to groups that either received a subcutaneous injection of albiglutide (30–50 mg, based on glycaemic response and tolerability) or of a matched volume of placebo once a week, in addition to their standard care. Investigators used an interactive voice or web response system to obtain treatment assignment, and patients and all study investigators were masked to their treatment allocation. We hypothesised that albiglutide would be non-inferior to placebo for the primary outcome of the first occurrence of cardiovascular death, myocardial infarction, or stroke, which was assessed in the intention-to-treat population. If non-inferiority was confirmed by an upper limit of the 95% CI for a hazard ratio of less than 1·30, closed testing for superiority was prespecified. This study is registered with ClinicalTrials.gov, number NCT02465515.\ud \ud Findings: \ud Patients were screened between July 1, 2015, and Nov 24, 2016. 10 793 patients were screened and 9463 participants were enrolled and randomly assigned to groups: 4731 patients were assigned to receive albiglutide and 4732 patients to receive placebo. On Nov 8, 2017, it was determined that 611 primary endpoints and a median follow-up of at least 1·5 years had accrued, and participants returned for a final visit and discontinuation from study treatment; the last patient visit was on March 12, 2018. These 9463 patients, the intention-to-treat population, were evaluated for a median duration of 1·6 years and were assessed for the primary outcome. The primary composite outcome occurred in 338 (7%) of 4731 patients at an incidence rate of 4·6 events per 100 person-years in the albiglutide group and in 428 (9%) of 4732 patients at an incidence rate of 5·9 events per 100 person-years in the placebo group (hazard ratio 0·78, 95% CI 0·68–0·90), which indicated that albiglutide was superior to placebo (p
Published: 2018

41. Validation of an LC–MS/MS salivary assay for glucocorticoid status assessment: Evaluation of the diurnal fluctuation of cortisol and cortisone and of their association within and between serum and saliva

Author: Uberto Pagotto, Flaminia Fanelli, Valentina Vicennati, Roberta Mazza, Renato Pasquali, Alessandra Gambineri, Alessia Fazzini, C. Pelusi, Guido Di Dalmazi, Marco Mezzullo, Mezzullo, Marco, Fanelli, Flaminia, Fazzini, Alessia, Gambineri, Alessandra, Vicennati, Valentina, Di Dalmazi, Guido, Pelusi, Carlotta, Mazza, Roberta, Pagotto, Uberto, and Pasquali, Renato
Subjects: Adult, Male, Saliva, medicine.medical_specialty, Hydrocortisone, Endocrinology, Diabetes and Metabolism, Metabolite, Clinical Biochemistry, 030209 endocrinology & metabolism, Tandem mass spectrometry, 01 natural sciences, Biochemistry, Cortisol, Specimen Handling, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, LC–MS/MS, Limit of Detection, Tandem Mass Spectrometry, Internal medicine, medicine, Humans, Circadian rhythm, Molecular Biology, Aged, Morning, business.industry, Medicine (all), 010401 analytical chemistry, Cell Biology, Middle Aged, Circadian Rhythm, 0104 chemical sciences, Cortisone, chemistry, Calibration, Molecular Medicine, Female, business, Glucocorticoid, Chromatography, Liquid, medicine.drug
Abstract: Salivary steroid testing represents a valuable source of biological information; however, the proper measurement of low salivary levels is challenging for direct immunoassays, lacking adequate sensitivity and specificity and causing poor inter-laboratory reproducibility. Liquid chromatography-tandem mass spectrometry (LC–MS/MS) has overcome previous analytical limits, often providing results deviating from previous knowledge. Nowadays, LC–MS/MS is being introduced in clinical laboratories for salivary cortisol testing; however, so far only a few studies have reported thorough biological validation based on LC–MS/MS data. In this study, we provide a thorough analytical, pre-analytical and biological validation of an LC–MS/MS method for the measurement of salivary cortisol (F) and of its inactive metabolite cortisone (E). Analytes were extracted from 50 μl of saliva, were then separated in 7.5 min LC-gradient and detected by negative electrospray ionization—multiple reaction monitoring. The reliability of a widely diffused collection device, Salivette®, was assessed and the overall procedure was validated. The diurnal cortisol and cortisone fluctuation in saliva and serum was described by a four paired collection protocol (8 am, 12 am, 4 pm and 8 pm) in 19 healthy subjects. The assay allowed the quantitation of F and E down to 39.1 and 78.1 pg/ml, with an imprecision range of 5.5–9.5%, 3.9–14.1% and 2.6–14.4%, and an accuracy range of 105.5–113.1%, 88.5–98.7% and 90.7–96.7% for both analytes at low, medium and high levels, respectively. Salivette® provided comparable results and better precision (CV
Published: 2016
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42. Defining Hyperandrogenism in Women With Polycystic Ovary Syndrome: A Challenging Perspective

Author: Danilo Ribichini, Andrea Repaci, Renato Pasquali, Alessandra Gambineri, Antonio Maria Morselli Labate, Flaminia Fanelli, Marco Mezzullo, Alessia Fazzini, Laura Zanotti, Pasquali, Renato, Zanotti, Laura, Fanelli, Flaminia, Mezzullo, Marco, Fazzini, Alessia, MORSELLI LABATE, ANTONIO MARIA, Repaci, Andrea, Ribichini, Danilo, and Gambineri, Alessandra
Subjects: Adult, Blood Glucose, 0301 basic medicine, Hirsutism, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 030209 endocrinology & metabolism, Biochemistry, Young Adult, 03 medical and health sciences, Follicle-stimulating hormone, 0302 clinical medicine, Endocrinology, Sex hormone-binding globulin, Sex Hormone-Binding Globulin, Internal medicine, Humans, Insulin, Medicine, Testosterone, Androstenedione, hirsutism, biology, business.industry, Free androgen index, Biochemistry (medical), Hyperandrogenism, Luteinizing Hormone, medicine.disease, Lipids, Polycystic ovary, Cross-Sectional Studies, Phenotype, 030104 developmental biology, biology.protein, Female, Follicle Stimulating Hormone, business, Luteinizing hormone, Polycystic Ovary Syndrome
Abstract: Objective: This study was designed to assess the steroid profiling by liquid chromatography coupled with tandem mass spectrometry in PCOS women with different phenotypes. Design: Cross-sectional study. Setting: University hospital of Bologna, Italy. Patients and Methods: A total of 156 PCOS women and 141 controls comparable for age were investigated. All underwent a steroid profiling by liquid chromatography coupled with tandem mass spectrometry. Metabolic parameters were also investigated and hirsutism was measured by the modified Ferriman-Gallwey (mF-G) score. Results: Three distinct phenotypes were initially defined according to the combination of hirsutism (mF-G ≥ 8) and/or high testosterone (T) (HA), oligo-amenorrhea (OA), and polycystic ovarian morphology (PCOm); OA + PCOm (n = 43), HA + OA (n = 65), and HA + OA + PCOm (n = 45). T, androstenedione (A), and free androgen index (FAI) levels progressively increased in the 3 PCOS phenotypes with respect to the controls, with the highest values in the HA + OA + PCOm phenotype. The various combinations of hirsutism, high T, high A, and high FAI made it possible to categorize the 3 original phenotypes into 8 hyperandrogenic subgroups, characterized by divergent additional steroid profile and metabolic pattern. A total of 90% of patients with PCOS thus proved hyperandrogenic. Interestingly, half the PCOS women originally classified as having the OA-PCOm phenotype were categorized in a hyperandrogenic subgroup. No significant correlation was found between T, A, and the mF-G score. In contrast, significant correlation was found between A and both T and FAI. Conclusions: This study provides evidence that, by including a steroid profile in the definition of hyperandrogenemia, the majority of women with PCOS are hyperandrogenic, although a clinical and biochemical heterogeneity exists. In addition, these data demonstrate that hirsutism and high androgen levels cannot be used indifferently to define hyperandrogenism.
Published: 2016
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43. Androgens and Severe Insulin Resistance States: Basic and Clinical Aspects

Author: L. Zanotti, Alessandra Gambineri, Daniela Ibarra-Gasparini, Pasquali, R, Pignatelli, D, Gambineri A., Zanotti L., and Ibarra-Gasparini D.
Subjects: medicine.medical_specialty, business.industry, Insulin, medicine.medical_treatment, Hyperandrogenism, Adipose tissue, 030209 endocrinology & metabolism, Biochemical biomarkers, medicine.disease, Polycystic ovary, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Insulin resistance, Internal medicine, Medicine, NA, Signal transduction, business, Gene screening
Abstract: Hyperandrogenism with or without polycystic ovary syndrome can be sustained by an extreme form of insulin resistance (IR), and is thus a secondary form of hyperandrogenism, which may be due to a defect in insulin signal transduction or in the adipose tissue. Severe IR due to adipose tissue dysfunction is the most frequent form, which may be the result of a deficiency in the adipose tissue, that is, the lipodystrophies, or to the unrestrained accumulation of adipose tissue. These forms are in some cases produced by a single-gene defect. The diagnosis remains predominantly clinical by examining patients in their underwear and looking out for clinical hallmarks, supported by biochemical biomarkers. Gene screening is necessary to corroborate the diagnosis of some forms. Clinicians who deal with hyperandrogenic disorders should be alerted to the forms that are secondary to severe IR, as they are not as uncommon as often imagined and frequently respond to tailored therapies.
Published: 2019

44. Sex hormones, obesity and type 2 diabetes: is there a link?

Author: Alessandra Gambineri, Carla Pelusi, Gambineri, Alessandra, and Pelusi, Carla
Subjects: obesity, endocrine system diseases, Androgens, oestrogens, T2DM, obesity, Endocrinology, Diabetes and Metabolism, Adipose tissue, Physiology, 030209 endocrinology & metabolism, Review, Type 2 diabetes, androgen, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Diabetes mellitus, Internal Medicine, medicine, sex, 030219 obstetrics & reproductive medicine, lcsh:RC648-665, diabetes, business.industry, Hyperandrogenism, androgens, nutritional and metabolic diseases, medicine.disease, Obesity, business, Hormone, estrogens
Abstract: An imbalance in sex hormones has an important impact on type 2 diabetes (T2DM) mainly through the involvement of visceral adipose tissue. Androgens have an interesting sex-dimorphic association with T2DM, since hyperandrogenism in females and hypogonadism in males are risk factors for T2DM. Thus, treatments aimed at correcting hyperandrogenism in females and hypogonadism in males may prevent the development of T2DM or help in its treatment.
Published: 2019

45. The Steroid Profile of Adrenal Incidentalomas: Subtyping Subjects With High Cardiovascular Risk

Author: Carla Pelusi, Flaminia Fanelli, Rita Golfieri, Claudio Borghi, Paola Altieri, Uberto Pagotto, Alessandra Gambineri, Guido Di Dalmazi, Guido Zavatta, Eugenio Roberto Cosentino, Renato Pasquali, Andrea Repaci, Caterina Balacchi, Marco Mezzullo, Cristina Mosconi, Silvia Ricci Bitti, Valentina Vicennati, Di Dalmazi G., Fanelli F., Zavatta G., Ricci Bitti S., Mezzullo M., Repaci A., Pelusi C., Gambineri A., Altieri P., Mosconi C., Balacchi C., Golfieri R., Cosentino E.R., Borghi C., Vicennati V., Pasquali R., and Pagotto U.
Subjects: Cortisol secretion, Male, medicine.medical_specialty, Adenoma, Hydrocortisone, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Clinical Biochemistry, Cortodoxone, Adrenal Gland Neoplasms, Dehydroepiandrosterone, Biochemistry, Gastroenterology, Steroid, chemistry.chemical_compound, Endocrinology, Corticosterone, Risk Factors, Tandem Mass Spectrometry, Internal medicine, medicine, Humans, Aged, business.industry, Biochemistry (medical), Hazard ratio, Hyperplasia, Middle Aged, Adrenal Incidentalomas: Cardiovascular Risk, medicine.disease, chemistry, Cardiovascular Diseases, Female, business, Cohort study, Chromatography, Liquid
Abstract: Context Steroid profiling by mass spectrometry has shown implications for diagnosis and subtyping of adrenal tumors. Objectives To investigate steroid profiles and their cardiovascular correlates in a large cohort of patients with nonsecreting (NS) adrenal incidentalomas and autonomous cortisol secretion (ACS). Design Cohort study. Setting University hospital. Patients Patients (n = 302) with incidentally discovered adrenal masses, divided into unilateral adenoma and hyperplasia with ACS (n = 46 and n = 52, respectively) and NS (n = 120 and n = 84, respectively). Post–dexamethasone suppression test (DST) cortisol 50 nmol/L defined NS and ACS, respectively. Intervention Analysis of 10-steroid panel by liquid chromatography–tandem mass spectrometry (LC-MS/MS) and clinical data (mean follow-up 39 months). Main Outcome Measures Difference in baseline and post-DST steroid profiles between groups. Correlation with cardiovascular profile. Results Patients with unilateral adenomas and ACS showed higher cortisol, 11-deoxycortisol, and corticosterone and lower dehydroepiandrosterone than those with NS adenomas. Patients with ACS hyperplasia showed higher cortisol and lower androgens in women than those with NS. Patients with ACS had reduced suppression of post-DST cortisol, 11-deoxycortisol, and corticosterone, irrespective of adrenal morphology. Post-DST cortisol and corticosterone were associated with higher prevalence of severe/resistant hypertension. Patients with ACS unilateral adenomas showed higher incidence of worsening of hypertensive disease and novel cardiovascular events than those with NS, with post-DST cortisol [hazard ratio (HR) 1.02; 95% CI, 1.01 to 1.03; P < 0.001] and baseline corticosterone (HR 1.06; 95% CI, 1.01 to 1.12; P = 0.031) among the main predictors. Conclusions Patients with adrenal incidentalomas showed different steroid profiles, depending on functional status and adrenal morphology, with implications for their cardiovascular status.
Published: 2019

46. Profiling plasma N-Acylethanolamine levels and their ratios as a biomarker of obesity and dysmetabolism

Author: Alessandra Gambineri, Marco Mezzullo, Guido Di Dalmazi, Daniela Ibarra Gasparini, Uberto Pagotto, Andrea Repaci, Antonio Maria Morselli-Labate, Marianna Mastroroberto, Ilaria Belluomo, Flaminia Fanelli, Valentina Vicennati, Renato Pasquali, Fanelli, Flaminia, Mezzullo, Marco, Repaci, Andrea, Belluomo, Ilaria, Ibarra Gasparini, Daniela, Di Dalmazi, Guido, Mastroroberto, Marianna, Vicennati, Valentina, Gambineri, Alessandra, Morselli-Labate, Antonio Maria, Pasquali, Renato, and Pagotto, Uberto
Subjects: 0301 basic medicine, Male, N-oleoylethanolamide, BMI, body mass index, Overweight, chemistry.chemical_compound, 0302 clinical medicine, Medicine, 2. Zero hunger, Aged, 80 and over, PEA, N-palmitoylethanolamide, OB, obese, Middle Aged, EC, endocannabinoid, 3. Good health, Menopause, N-palmitoylethanolamide, HOMA-IR, homeostatic model assessment of insulin resistance, Cholesterol, Ethanolamines, lipids (amino acids, peptides, and proteins), Female, Original Article, medicine.symptom, Waist Circumference, NAE, N-acylethanolamine, Adult, 2AG, 2-arachidonoylglycerol, medicine.medical_specialty, lcsh:Internal medicine, Waist, Endocannabinoid system, DBP, diastolic blood pressure, 030209 endocrinology & metabolism, OW, overweight, AEA, N-arachidonoylethanolamide, Dysmetabolism, OEA, N-oleoylethanolamide, 03 medical and health sciences, Insulin resistance, Lipid oxidation, Internal medicine, Humans, Obesity, lcsh:RC31-1245, Molecular Biology, Triglycerides, Aged, Int., interaction, Triglyceride, NW, normal weight, business.industry, SBP, systolic blood pressure, Cell Biology, Anandamide, medicine.disease, HDL, high density lipoprotein, 030104 developmental biology, Endocrinology, chemistry, business, SD, standard deviation, Body mass index, Biomarkers, ECS, endocannabinoid system
Abstract: Objective N-acylethanolamines play different roles in energy balance; anandamide (AEA) stimulates energy intake and storage, N-palmitoylethanolamide (PEA) counters inflammation, and N-oleoylethanolamide (OEA) mediates anorectic signals and lipid oxidation. Inconsistencies in the association of plasma N-acylethanolamines with human obesity and cardiometabolic risk have emerged among previous studies, possibly caused by heterogeneous cohorts and designs, and by unstandardized N-acylethanolamine measurements. We aimed to characterize changes in the plasma profile, including N-acylethanolamine levels and ratios associated with obesity, menopause in women, and ageing in men, and to define the significance of such a profile as a biomarker for metabolic imbalance. Methods Adult, drug-free women (n = 103 premenopausal and n = 81 menopausal) and men (n = 144) were stratified according to the body mass index (BMI) into normal weight (NW; BMI: 18.5–24.9 kg/m2), overweight (OW; BMI: 25.0–29.9 kg/m2), and obese (OB; BMI ≥30.0 kg/m2). Anthropometric and metabolic parameters were determined. Validated blood processing and analytical procedures for N-acylethanolamine measurements were used. We investigated the effect of BMI and menopause in women, and BMI and age in men, as well as the BMI-independent influence of metabolic parameters on the N-acylethanolamine profile. Results BMI and waist circumference directly associated with AEA in women and men, and with PEA in premenopausal women and in men, while BMI directly associated with OEA in premenopausal women and in men. BMI, in both genders, and waist circumference, in women only, inversely associated with PEA/AEA and OEA/AEA. Menopause increased N-acylethanolamine levels, whereas ageing resulted in increasing OEA relative abundance in men. AEA and OEA abundances in premenopausal, and PEA and OEA abundances in lean menopausal women, were directly associated with hypertension. Conversely, PEA and OEA abundances lowered with hypertension in elderly men. Insulin resistance was associated with changes in N-acylethanolamine ratios specific for premenopausal (reduced PEA/AEA and OEA/AEA), menopausal (reduced OEA/AEA) women and men (reduced OEA/AEA and OEA/PEA). PEA and OEA levels increased with total cholesterol, and OEA abundance specifically increased with HDL-cholesterol. Elevated triglyceride levels were associated with increased N-acylethanolamine levels only in menopausal women. Conclusions Obesity-related N-acylethanolamine hypertone is characterized by imbalanced N-acylethanolamine ratios. The profile given by a combination of N-acylethanolamine absolute levels and ratios enables imbalances to be identified in relationship with different metabolic parameters, with specific relevance according to gender, menopause and age, representing a useful means for monitoring metabolic health. Finally, N-acylethanolamine system appears a promising target for intervention strategies., Highlights • Obesity is featured by plasma N-acylethanolamine excess and imbalanced ratios. • AEA excess is a biomarker of abdominal fat irrespectively of sex and menopause/age. • PEA and OEA protect from hypertension in gender and menopause/age specific fashion. • AEA excess in women and OEA deficiency in men are biomarkers of insulin resistance. • High AEA in men and low OEA in men and menopausal women reflect low HDL-cholesterol.
Published: 2018

47. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Author: Barzaghi, F., Hernandez, L.C.A., Neven, B., Ricci, S., Kucuk, Z.Y., Bleesing, J.J., Nademi, Z., Slatter, M.A., Ulloa, E.R., Shcherbina, A., Roppelt, A., Worth, A., Silva, J., Aiuti, A., Murguia-Favela, L., Speckmann, C., Carneiro-Sampaio, M., Fernandes, J.F., Baris, S., Ozen, A., Karakoc-Aydiner, E., Kiykim, A., Schulz, A., Steinmann, S., Notarangelo, L.D., Gambineri, E., Lionetti, P., Shearer, W.T., Forbes, L.R., Martinez, C., Moshous, D., Blanche, S., Fisher, A., Ruemmele, F.M., Tissandier, C., Ouachee-Chardin, M., Rieux-Laucat, F., Cavazzana, M., Qasim, W., Lucarelli, B., Albert, M.H., Kobayashi, I., Alonso, L., Heredia, C.D. de, Kanegane, H., Lawitschka, A., Seo, J.J., Gonzalez-Vicent, M., Diaz, M.A., Goyal, R.K., Sauer, M.G., Yesilipek, A., Kim, M., Yilmaz-Demirdag, Y., Bhatia, M., Khlevner, J., Padilla, E.J.R., Martino, S., Montin, D., Neth, O., Molinos-Quintana, A., Valverde-Fernandez, J., Broides, A., Pinsk, V., Ballauf, A., Haerynck, F., Bordon, V., Dhooge, C., Garcia-Lloret, M.L., Bredius, R.G., Kawak, K., Haddad, E., Seidel, M.G., Duckers, G., Pai, S.Y., Dvorak, C.C., Ehl, S., Locatelli, F., Goldman, F., Gennery, A.R., Cowan, M.J., Roncarolo, M.G., Bacchetta, R., PIDTC, IEWP, European Soc Blood Marrow, Barzaghi, Federica, Hernandez, Laura Cristina Amaya, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J., Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R., Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M., Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frederic, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H., Kobayashi, Ichiro, Alonso, Laura, De Heredia, Cristina Diaz, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G., Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Padilla, Erick J. Richmond, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G., Kalwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C., Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J., Roncarolo, Maria-Grazia, Bacchetta, Rosa, Amaya Hernandez, Laura Cristina, Murguia-Favela, Lui, Shearer, William Thoma, Rieux-Laucat, Frédéric, Diaz De Heredia, Cristina, Richmond Padilla, Erick J., and Kałwak, Krzysztof
Subjects: 0301 basic medicine, Male, Allergy, medicine.medical_treatment, Medizin, Disease, Hematopoietic stem cell transplantation, SIROLIMUS, Regenerative Medicine, primary immune deficiency, Medicine and Health Sciences, IPEX, Immunology and Allergy, 2.1 Biological and endogenous factors, Enteropathy, Aetiology, POLYENDOCRINOPATHY, Child, Pediatric, CÉLULAS-TRONCO, immunosuppression, Hematopoietic Stem Cell Transplantation, Genetic Diseases, X-Linked, Immunosuppression, Forkhead Transcription Factors, X-LINKED SYNDROME, Allografts, Survival Rate, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Immune System Diseases, Genetic Diseases, Child, Preschool, hematopoietic stem cell transplantation, Female, hematopoietic stem, neonatal diabetes, FOXP3, Primary Immune Deficiency, Treg cells, enteropathy, genetic autoimmunity, rapamycin, Type 1, Diarrhea, Adult, medicine.medical_specialty, Adolescent, Immunology, Neonatal onset, Article, Disease-Free Survival, 03 medical and health sciences, Neonatal diabete, Clinical Research, Internal medicine, IMMUNODYSREGULATION, medicine, Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Diabetes Mellitus, Genetics, Humans, REGULATORY T-CELLS, cell transplantation, Preschool, Retrospective Studies, Immunosuppression Therapy, Transplantation, IMMUNE DYSREGULATION, business.industry, MUTATIONS, Infant, Retrospective cohort study, STEM-CELL TRANSPLANTATION, IPEX syndrome, X-Linked, medicine.disease, Stem Cell Research, BONE-MARROW-TRANSPLANTATION, Treg cell, FOXP3 MUTATIONS, Diabetes Mellitus, Type 1, 030104 developmental biology, ENGRAFTMENT, Mutation, business, Follow-Up Studies
Abstract: Background Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndromeis a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. Objective This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Methods Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. Results We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Conclusions Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen., GRAPHICAL ABSTRACT
Published: 2018

48. Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia

Author: Ebe Schiavo, Cristina Luceri, Rayan Goda, Eleonora Gambineri, Claudio Favre, Elisabetta Bigagli, Alessia Grassi, Marina Vignoli, Annachiara Azzali, Mario Milco D'Elios, Annalisa Tondo, Maria Chiara Sanvito, Ilaria Fotzi, Sara Ciullini Mannurita, Veronica Tintori, Stefano Frenos, and Maria Luisa Coniglio
Subjects: Hemolytic anemia, medicine.medical_treatment, STAT3 gain-of-function, autoimmune lymphoproliferative syndrome, hematopoietic stem cell transplantation, hemolytic anemia, hereditary spherocytosis, lymphadenopathy, primary immune regulatory disorders, spectrin deficiency, Agammaglobulinemia, Age of Onset, Anemia, Hemolytic, Autoimmune, Child, Cyclosporine, Cytochrome P-450 CYP3A, Female, Germ-Line Mutation, Graft vs Host Disease, Growth Disorders, Hematopoietic Stem Cell Transplantation, Humans, Immunoglobulins, Intravenous, Immunosuppressive Agents, Lymphoproliferative Disorders, Mutation, Missense, Polymorphism, Single Nucleotide, Prednisolone, Retinal Hemorrhage, STAT3 Transcription Factor, Spectrin, Unrelated Donors, Gain of Function Mutation, Case Report, Hematopoietic stem cell transplantation, medicine.disease_cause, Autoimmunity, Hereditary spherocytosis, Hypogammaglobulinemia, Immunology and Allergy, Anemia, Single Nucleotide, Autoimmune hemolytic anemia, Intravenous, lcsh:Immunologic diseases. Allergy, Immunology, Immunoglobulins, STAT3 GOF, medicine, Polymorphism, business.industry, medicine.disease, Autoimmune lymphoproliferative syndrome, Mutation, Missense, business, lcsh:RC581-607, Hemolytic, Autoimmune
Abstract: STAT3 gain-of-function (GOF) mutations can be responsible for an incomplete phenotype mainly characterized by hematological autoimmunity, even in the absence of other organ autoimmunity, growth impairment, or severe infections. We hereby report a case with an incomplete form of STAT3 GOF intensified by a concomitant hereditary hematological disease, which misleads the diagnosis. The patient presented with lymphadenopathy, splenomegaly, hypogammaglobulinemia, and severe autoimmune hemolytic anemia (AIHA) with critical complications, including stroke. A Primary Immune Regulatory Disorders (PIRD) was suspected, and molecular analysis revealed a de novo STAT3 gain-of-function mutation. The response to multiple immune suppressive treatments was ineffective, and further investigations revealed a spectrin deficiency. Ultimately, hematopoietic stem cell transplantation from a matched unrelated donor was able to cure the patient. Our case shows an atypical presentation of STAT3 GOF associated with hereditary spherocytosis, and how achievement of a good long-term outcome depends on a strict clinical and laboratory monitoring, as well as on prompt therapeutic intervention.
Published: 2020

49. Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders

Author: Shahrzad Bakhtiar, Julia Fekadu, Markus G. Seidel, Eleonora Gambineri, Lankester, Arjan C., and Inborn Errors Working Party Group of the EBMT
Subjects: medicine.medical_treatment, IUIS classification 2017, Hematopoietic stem cell transplantation, Review, 030204 cardiovascular system & hematology, medicine.disease_cause, primary immunodeficiency, Pediatrics, Autoimmunity, Targeted therapy, alloHSCT, CTLA-4, IL10R, immune dysregulation, IPEX, LRBA, 03 medical and health sciences, 0302 clinical medicine, Immune system, Immunity, 030225 pediatrics, medicine, ddc:610, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, Immune dysregulation, medicine.disease, Pediatrics, Perinatology and Child Health, Immunology, Primary immunodeficiency, business
Abstract: Primary immunodeficiency disorders that predominantly affect immune regulation and mechanisms of self-tolerance have come into the limelight, because at least for a subgroup of monogenetic disorders, a targeted therapy has become available. Nevertheless, their management often involves the treatment of severely compromising, refractory, multi-organ autoimmunity, leading to further increased susceptibility to infections and complications of long-term immune suppressive treatment, including the risk of malignancy. While evidence for allogeneic hematopoietic stem cell transplantation (alloHSCT) as a curative treatment option for severely affected patients by this disease category accumulates, clear indications, and guidelines for alloHSCT are lacking. Predictive and stratification-relevant tools such as disease activity scores are largely missing and often there is not a consistent genotype-phenotype correlation within the same family to facilitate the decision whether to transplant or not. In this review, we provide a literature-based update on indications and outcomes of alloHSCT for congenital immune dysregulative inborn errors of immunity according to the IUIS classification 2017.
Published: 2019
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50. Definition of hormonal cut-off values for discriminating polycystic ovary syndrome from non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Author: Paola Altieri, Silvia Castelli, Alessandra Gambineri, Francesca Corzani, Uberto Pagotto, Claudia Oriolo, Soara Menabo, Daniela Ibarra Gasparini, and Lilia Baldazzi
Subjects: medicine.medical_specialty, Endocrinology, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, business.industry, Internal medicine, medicine, business, medicine.disease, Polycystic ovary, Hormone
Published: 2019
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