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1. SMALL BOWEL METASTASIS FROM UNKNOWN PRIMARY MALIGNANT MELANOMA AS INCIDENTAL FINDINGS ON ABDOMINAL MRI

Author

Anna Favia

Subjects
melanoma, small intestine, magnetic resonance imaging, Medicine (General), R5-920
Abstract

Melanoma of unknown primary site represents 1-8% of all melanomas and can be diagnosed by exclusion after examining all possible origin areas of the primary tumor. We report the case of a young lady referred to receive Magnetic Resonance Imaging (MRI) to investigate suspicious hepatic lesions seen by ultrasound. Three years earlier, the patient underwent left inguinal lymphadenectomy for metastatic melanoma with unknown primary site. No clinical evidence of a primary tumor was found at physical examination (dermatological/ophthalmological) or at gastro-duodenoscopy/ileo-colonoscopy. CT scans performed annually were negative for melanoma lymph node recurrence and distant metastases. At MRI sequences, we excluded the presence of liver metastasis but we identified small bowel metastases from melanoma as incidental findings. The patient has been subjected to exeresis of small bowel lesions and anatomopathological examination confirmed the diagnosis made by imaging. At present, the primary tumor has yet to be identified.

Published
2020
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2. KASABACH-MERRITT SYNDROME IN A NEWBORN: FROM PRENATAL DIAGNOSIS WITH MRI TO TREATMENT WITH SIROLIMUS

Author

Anna Favia

Subjects
Kasabach-Merritt Syndrome, Sirolimus, Vascular neoplasms, Medicine (General), R5-920
Abstract

Kasabach-Merritt Syndrome (KMS) is a rare clinical entity, found in 1% of angiomatous lesions, characterized by severe consumption coagulopathy/thrombocytopenia in association with highly aggressive neonatal vascular lesions. We describe a case of prenatally diagnosed vascular neoformation of the neck, revealed by obstetric ultrasound and then confirmed by fetal Magnetic Resonance, with subsequent onset of KMS at birth. The newborn was treated with Propanolol and Prednisone, without any benefit; Magnetic Resonance (MRI) at day 14 of life confirmed the hypervascularized lesion of about 6x7x6 cm on the right laterocervical site. Sirolimus therapy was then initiated leading to rapid improvement in thrombocytopenia and a volumetric reduction of the vascular lesion on MRI. After 12 months of treatment, MRI scan showed a further reduction in volume of the vascular lesion; also, the KMS-related thrombocytopenia was completely resolved: Sirolimus could represent the first line of treatment of vascular lesions in the neonatal age.

Published
2019
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3. Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability

Author

Gianmaria Miolo, Laura Bernardini, Anna Capalbo, Anna Favia, Marina Goldoni, Barbara Pivetta, Giovanni Tessitori, and Giuseppe Corona

Subjects
FIRRE gene, intellectual disability, lncRNA, microduplication, chromosomal microarray analysis, Medicine (General), R5-920
Abstract

Long non-coding RNAs (lncRNAs), defined as transcripts of ≥200 nucleotides not translated into protein, have been involved in a wide range of regulatory functions. Their dysregulations have been associated with diverse pathological conditions such as cancer, schizophrenia, Parkinson’s, Huntington’s, Alzheimer’s diseases and Neurodevelopmental Disorders (NDDs), including autism spectrum disorders (ASDs). We report on the case of a five-year-old child with global developmental delay carrying a de novo microduplication on chromosome Xq26.2 region characterized by a DNA copy-number gain spanning about 147 Kb (chrX:130,813,232-130,960,617; GRCh37/hg19). This small microduplication encompassed the exons 2-12 of the functional intergenic repeating RNA element (FIRRE) gene (chrX:130,836,678-130,964,671; GRCh37/hg19) that encodes for a lncRNA involved in the maintenance of chromatin repression. The association of such a genetic alteration with a severe neurodevelopmental delay without clear dysmorphic features and congenital abnormalities indicative of syndromic condition further suggests that small Xq26.2 chromosomal region microduplications containing the FIRRE gene may be responsible for clinical phenotypes mainly characterized by structural or functioning neurological impairment.

Published
2020
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4. Differences between Transient Neonatal Diabetes Mellitus Subtypes can Guide Diagnosis and Therapy

Author

Riccardo Bonfanti, Dario Iafusco, Ivana Rabbone, Giacomo Diedenhofen, Carla Bizzarri, Patrizia Ippolita Patera, Petra Reinstadler, Francesco Costantino, Valeria Calcaterra, Lorenzo Iughetti, Silvia Savastio, Anna Favia, Francesca Cardella, Donatella Lo Presti, Ylenia Girtler, Sarah Rabbiosi, Giuseppe D’Annunzio, Angela Zanfardino, Alessia Piscopo, Francesca Casaburo, Letizia Pintomalli, Lucia Russo, Valeria Grasso, Nicola Minuto, Mafalda Mucciolo, Antonio Novelli, Antonella Marucci, Barbara Piccini, Sonia Toni, Francesca Silvestri, Paola Carrera, Andrea Rigamonti, Giulio Frontino, Michela Trada, Davide Tinti, Maurizio Delvecchio, Novella Rapini, Riccardo Schiaffini, Corrado Mammì, Fabrizio Barbetti, Monica Aloe, Simona Amadeo, Claudia Arnaldi, Marta Bassi, Luciano Beccaria, Marzia Benelli, Giulia Maria Berioloi, Enrica Bertelli, Martina Biagioni, Adriana Bobbio, Stefano Boccato, Oriana Bologna, Franco Bontempi, Clara Bonura, Giulia Bracciolini, Claudia Brufani, Patrizia Bruzzi, Pietro Buono, Roberta Cardani, Giuliana Cardinale, Alberto Casertano, Maria Cristina Castiglione, Vittoria Cauvin, Valentino Cherubini, Franco Chiarelli, Giovanni Chiari, Stefano Cianfarani, Dante Cirillo, Felice Citriniti, Susanna Coccioli, Anna Cogliardi, Santino Confetto, Giovanna Contreas, Anna Corò, Elisa Corsini, Nicoletta Cresta, Fiorella De Berardinis, Valeria De Donno, Giampaolo De Filippo, Rosaria De Marco, Annalisa Deodati, Elena Faleschini, Valentina Fattorusso, Valeria Favalli, Barbara Felappi, Lucia Ferrito, Graziella Fichera, Franco Fontana, Elena Fornari, Roberto Franceschi, Francesca Franco, Adriana Franzese, Anna Paola Frongia, Alberto Gaiero, Francesco Gallo, Luigi Gargantini, Elisa Giani, Chiara Giorgetti, Giulia Bianchi, Vanna Graziani, Antonella Gualtieri, Monica Guasti, Gennaro Iannicelli, Antonio Iannilli, Ignaccolo Giovanna, Dario Ingletto, Stefania Innaurato, Elena Inzaghi, Brunella Iovane, Peter Kaufmann, Alfonso La Loggia, Rosa Lapolla, Anna Lasagni, Nicola Lazzaro, Lorenzo Lenzi, Riccardo Lera, Gabriella Levantini, Fortunato Lombardo, Antonella Lonero, Silvia Longhi, Sonia Lucchesi, Lucia Paola Guerraggio, Sergio Lucieri, Patrizia Macellaro, Claudio Maffeis, Bendetta Mainetti, Giulio Maltoni, Chiara Mameli, Francesco Mammì, Maria Luisa Manca-Bitti, Melania Manco, Monica Marino, Matteo Mariano, Marco Marigliano, Alberto Marsciani, Costanzo Mastrangelo, Maria Cristina Matteoli, Elena Mazzali, Franco Meschi, Antonella MIgliaccio, Anita Morandi, Gianfranco Morganti, Enza Mozzillo, Gianluca Musolino, Rosa Nugnes, Federica Ortolani, Daniela Pardi, Filomena Pascarella, Stefano Passanisi, Annalisa Pedini, Cristina Pennati, Angelo Perrotta, Sonia Peruzzi, Paola Peverelli, Giulia Pezzino, Anita Claudia Piona, Gavina Piredda, Carmelo Pistone, Elena Prandi, Barbara Pedieri, Procolo Di Bonito, Anna Pulcina, Maria Quinci, Emioli Randazzo, Rossella Ricciardi, Carlo Ripoli, Rosanna Roppolo, Irene Rutigliano, Alberto Sabbio, Silvana salardi, Alessandro Salvatoni, Anna Saporiti, Rita Sardi, Mariapiera Scanu, Andrea Scaramuzza, Eleonardo Schiven, Andrea Secco, Linda Sessa, Paola Sogno Valin, Silvia Sordelli, Luisa Spallino, Stefano Stagi, Filomena Stamati, Tosca Suprani, Valentina Talarico, Tiziana Timapanaro, Antonella Tirendi, Letizia Tomaselli, Gianluca Tornese, Adolfo Andrea Trettene, Stefano Tumini, Giuliana Valerio, Claudia Ventrici, Matteo Viscardi, Silvana Zaffani, Maria Zampolli, Giorgio Zanette, Clara Zecchino, Maria Antonietta Zedda, Silvia Zonca, Stefano Zucchini, Bonfanti, R., Iafusco, D., Rabbone, I., Diedenhofen, G., Bizzarri, C., Patera, P. I., Reinstadler, P., Costantino, F., Calcaterra, V., Iughetti, L., Savastio, S., Favia, A., Cardella, F., Presti, D. L., Girtler, Y., Rabbiosi, S., D'Annunzio, G., Zanfardino, A., Piscopo, A., Casaburo, F., Pintomalli, L., Russo, L., Grasso, V., Minuto, N., Mucciolo, M., Novelli, A., Marucci, A., Piccini, B., Toni, S., Silvestri, F., Carrera, P., Rigamonti, A., Frontino, G., Trada, M., Tinti, D., Delvecchio, M., Rapini, N., Schiaffini, R., Mammi, C., and Barbetti, F.

Subjects
Proband, Male, Pediatrics, Potassium Channels, Endocrinology, Diabetes and Metabolism, Datasets as Topic, Diagnosis, Differential, Diagnostic Techniques, Endocrine, Female, Humans, Infant, Infant, Newborn, Italy, Mutation, Potassium Channels, Inwardly Rectifying, Remission Induction, Retrospective Studies, Sulfonylurea Receptors, Diabetes Mellitus, Infant, Newborn, Diseases, Diseases, Gastroenterology, Diabetes mellitus genetics, Endocrinology, Settore MED/13, Retrospective Studie, Diagnosis, Medicine, Endocrine pancreas, Transient Neonatal Diabetes Mellitus, 6q24 TNDM, KATP TNDM, Sulfonylureas, Sulfonylureas, Sulfonylurea Receptor, biology, Diabetes Mellitu, General Medicine, Metformin, Inwardly Rectifying, Settore MED/03, 6q24 TNDM, medicine.symptom, Endocrine, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Human, endocrine system, medicine.medical_specialty, KATP TNDM, ABCC8, Transient Neonatal Diabetes Mellitus, Internal medicine, Diabetes mellitus, Macroglossia, Endocrine pancreas, business.industry, medicine.disease, Newborn, Diagnostic Techniques, Transient neonatal diabetes mellitus, Differential, biology.protein, Sulfonylurea receptor, business
Abstract

Objective Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design Retrospective analysis of the Italian data set of patients with TNDM. Methods Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; −2.27 SD) than those with KATP mutations (4.0 weeks; −1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

Published
2021

5. Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability

Author

Giovanni Tessitori, Anna Favia, Giuseppe Corona, Anna Capalbo, Gianmaria Miolo, Laura Bernardini, Barbara Pivetta, and Marina Goldoni

Subjects
0301 basic medicine, Clinical Biochemistry, Case Report, Biology, FIRRE gene, 03 medical and health sciences, Exon, 0302 clinical medicine, lncRNA, Intellectual disability, medicine, Global developmental delay, Gene, Genetics, lcsh:R5-920, microduplication, Chromosome, medicine.disease, Chromatin, 030104 developmental biology, intellectual disability, Chromosomal region, chromosomal microarray analysis, Autism, lcsh:Medicine (General), 030217 neurology & neurosurgery
Abstract

Long non-coding RNAs (lncRNAs), defined as transcripts of >200 nucleotides not translated into protein, have been involved in a wide range of regulatory functions. Their dysregulations have been associated with diverse pathological conditions such as cancer, schizophrenia, Parkinson’s, Huntington’s, Alzheimer’s diseases and Neurodevelopmental Disorders (NDDs), including autism spectrum disorders (ASDs). We report on the case of a five-year-old child with global developmental delay carrying a de novo microduplication on chromosome Xq26.2 region characterized by a DNA copy-number gain spanning about 147 Kb (chrX:130,813,232-130,960,617; GRCh37/hg19). This small microduplication encompassed the exons 2-12 of the functional intergenic repeating RNA element (FIRRE) gene (chrX:130,836,678-130,964,671; GRCh37/hg19) that encodes for a lncRNA involved in the maintenance of chromatin repression. The association of such a genetic alteration with a severe neurodevelopmental delay without clear dysmorphic features and congenital abnormalities indicative of syndromic condition further suggests that small Xq26.2 chromosomal region microduplications containing the FIRRE gene may be responsible for clinical phenotypes mainly characterized by structural or functioning neurological impairment.

Published
2020

6. Has COVID-19 Delayed the Diagnosis and Worsened the Presentation of Type 1 Diabetes in Children?

Author

Rabbone, Ivana, Schiaffini, Riccardo, Cherubini, Valentino, Maffeis, Claudio, Scaramuzza, Andrea, Diabetes Study Group of the Italian Society for Pediatric Endocrinology and Diabetes (Enrica Bertelli, Lucia, Ferlito, Adriana, Bobbio, Eleonardo, Schieven, Maurizio, Delvecchio, Giulio, Maltoni, Petra, Reinstadler, Barbara, Felappi, Francesco, Gallo, Carlo, Ripoli, Filomena, Pascarella, Filomena, A Stamati, Donatella Lo Presti, Felice, Citriniti, Stefano, Tumini, Maria, Zampolli, Rosaria De Marco, Claudio, Cavalli, Valeria De Donno, Sonia, Toni, Maria Susanna Coccioli, Giuseppe, D'Annunzio, Paola Sogno Valin, Dante, Cirillo, Silvia, Sordelli, Fortunato, Lombardo, Riccardo, Bonfanti, Chiara, Mameli, Predieri, Barbara, Adriana, Franzese, Dario, Iafusco, Silvia, Savastio, Gavina, Piredda, Francesca, Cardella, Valeria, Calcaterra, Emioli, Randazzo, Anna, Favia, Tosca, Suprani, Alessandra, Lasagni, Novella, Rapini, Irene, Rutigliano, Alberto, Gaiero, Luisa De Sanctis, Vittoria, Cauvin, Marta, Minute, Gianluca, Tornese, Francesca, Franco, Gianluca, Musolino, Marco, Marigliano, Silvia, Innaturato, Claudia, Arnaldi), Rabbone, Ivana, Schiaffini, Riccardo, Cherubini, Valentino, Maffeis, Claudio, Scaramuzza, Andrea, Tornese, Gianluca, Rabbone, I., Schiaffini, R., Cherubini, V., Maffeis, C., Scaramuzza, A., Italian Study Group of Diabetes of, Isped, and Iafusco, D

Subjects
Research design, Male, Pediatrics, Delayed Diagnosis, Cross-sectional study, Endocrinology, Diabetes and Metabolism, Clinical Laboratory Technique, 0302 clinical medicine, COVID-19 Testing, 030212 general & internal medicine, Viral, Child, Emergency Service, Delayed Diagnosi, COVID-19, diabetes mellitus type 1, Italy, Adolescent, Child, Preschool, Clinical Laboratory Techniques, Coronavirus Infections, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Diabetic Ketoacidosis, Emergency Service, Hospital, Female, Humans, Infant, Pandemics, Pneumonia, Viral, SARS-CoV-2, Betacoronavirus, medicine.symptom, Human, Type 1, medicine.medical_specialty, Diabetic ketoacidosis, 030209 endocrinology & metabolism, Asymptomatic, Diabetic Ketoacidosi, 03 medical and health sciences, Hospital, Diabetes mellitus, Internal Medicine, medicine, Diabetes Mellitus, Preschool, Advanced and Specialized Nursing, Cross-Sectional Studie, Type 1 diabetes, Pandemic, business.industry, Coronavirus Infection, Emergency department, Pneumonia, medicine.disease, business
Abstract

OBJECTIVE To evaluate whether the diagnosis of pediatric type 1 diabetes or its acute complications changed during the early phase of the coronavirus disease 2019 (COVID-19) pandemic in Italy. RESEARCH DESIGN AND METHODS This was a cross-sectional, web-based survey of all Italian pediatric diabetes centers to collect diabetes, diabetic ketoacidosis (DKA), and COVID-19 data in patients presenting with new-onset or established type 1 diabetes between 20 February and 14 April in 2019 and 2020. RESULTS Fifty-three of 68 centers (77.9%) responded. There was a 23% reduction in new diabetes cases in 2020 compared with 2019. Among those newly diagnosed patients who presented in a state of DKA, the proportion with severe DKA was 44.3% in 2020 vs. 36.1% in 2019 (P = 0.03). There were no differences in acute complications. Eight patients with asymptomatic or mild COVID-19 had laboratory-confirmed severe acute respiratory syndrome coronavirus 2. CONCLUSIONS The COVID-19 pandemic might have altered diabetes presentation and DKA severity. Preparing for any “second wave” requires strategies to educate and reassure parents about timely emergency department attendance for non–COVID-19 symptoms.

Published
2020

11. Newly Diagnosed HIV-1 Infections in Pregnancy: Evidences from a Cohort Study in South-Eastern Italy.

Author

Anna Favia, Josè Ramon Fiore, and Giuseppe Pastore

Abstract

The authors report and discuss the characteristics of 22 women who discovered their HIV seropositivity while pregnant. Most of the women had never been tested for HIV and this occurred not only for ‘not at risk’ women but also for sexual partners of HIV-infected men. Several infections were diagnosed late in pregnancy when most women were already immunodeficient. An implementation of HIV prenatal testing as an early standard clinical practice, should be promoted in all women, regardless of the presence of risk factors. [ABSTRACT FROM AUTHOR]

Published
2004

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