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1. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Author

Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V., Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, and Cicalese, V.

Subjects
Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Home therapy, rare diseases, 030204 cardiovascular system & hematology, Campania region, Covid-19, Italy, patient registry, Disease Outbreaks, 03 medical and health sciences, COVID-19 Testing, 0302 clinical medicine, Pandemic, Health care, medicine, Retrospective analysis, Humans, AcademicSubjects/MED00860, Registries, 030212 general & internal medicine, Medical diagnosis, Pandemics, Retrospective Studies, business.industry, Public Health, Environmental and Occupational Health, Outbreak, General Medicine, Original Article, business, Delivery of Health Care, Rare disease
Abstract

Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P Conclusions This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.

Published
2021

2. Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

Author

Ciaccio C., Castello R., Esposito S., Pinelli M., Nigro V., Casari G., Chiapparini L., Pantaleoni C., Torella A., Cappuccio G., Musacchia F., Mutarelli M., Carrella D., Vitiello G., Parenti G., Capra V., Leuzzi V., Selicorni A., Maitz S., Brunetti-Pierri N., Banfi S., Zollino M., Montomoli M., Milani D., Romano C., Tummolo A., De Brasi D., Coppola A., Santoro C., D'Arrigo S., Ciaccio, C., Castello, R., Esposito, S., Pinelli, M., Nigro, V., Casari, G., Chiapparini, L., Pantaleoni, C., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., D'Arrigo, S., Ciaccio, Claudia, Castello, Raffaele, Esposito, Silvia, Pinelli, Michele, Nigro, Vincenzo, Casari, Giorgio, Chiapparini, Luisa, Pantaleoni, Chiara, and D'Arrigo, Stefano

Subjects
Drug Resistant Epilepsy, medicine.medical_specialty, Pediatrics, Neurology, Ataxia, Adolescent, SCAR23, Disease, Whole Exome Sequencing, 050105 experimental psychology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, Humans, Spinocerebellar Ataxias, Medicine, 0501 psychology and cognitive sciences, TDP2, Phosphoric Diester Hydrolases, business.industry, 05 social sciences, Pediatric ataxia, medicine.disease, DNA-Binding Proteins, Mutation, Cerebellar atrophy, Spinocerebellar ataxia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Spinocerebellar Ataxia 23 (SCAR23) is a newly described condition caused by mutations in TDP2 gene. To date, only four patients from two families have been reported, all carrying the same homozygous mutation. We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition.

Published
2019

3. Use of narrative medicine to identify key factors for effective doctor–patient relationships in severe asthma

Author

Cappuccio, A., Napolitano, S., Menzella, F., Pellegrini, G., Policreti, A., Pelaia, G., Porpiglia, P. A., Marini, M. G., Antonelli, A., Arezzo, C., Baglioni, S., Boni, E., Bragantini, A., Bruzzese, D., Caldarelli, V., Caminati, M., Caminiti, L., Carraro, C., Ceccon, M. A., Bianchi, F. C., Cirisano, A., Cogo, R., Conte, E., D(')Auria, E., Daniele, S., De Brasi, D., De Castro, G., De Luca, S., Detoraki, C., Di Palmo, E., Fenu, G., Ferrara, A., Ferrigno, G., Fusi, A., Gaccione, A., Gandino, M., Guarnieri, G., Guerrieri, A., Iacoacci, C., Lacedonia, D., Schiavo, M. L., Longo, R., Magazz(`u), C., Marzo, G., Mastroberardino, M., Mattioli, G. P., Monaco, L., Montera, C., Morelli, M., Nicolini, A., Omodeo, P., Palmiero, G., Pannofino, A., Papa, A., Patria, F., Pini, L., Polti, S., Pontillo, A., Poppa, M., Poto, S., Quercia, O., Raie, A., Ronzoni, V., Rosati, Y., Russo, A., Salzillo, A., Santoro, M., Savoia, F., Simonazzi, A., Sposato, B., Tourtchenko, V., Tripodi, S., Vatrella, A., and Veronelli, E.

Subjects
Pulmonary and Respiratory Medicine, Severe asthma, medicine.medical_specialty, media_common.quotation_subject, Medical education and training, Empathy, Grounded theory, 03 medical and health sciences, 0302 clinical medicine, Promotion (rank), Qualitative research, Medicine, Narrative, Original Research Article, 030212 general & internal medicine, education, Asthma, media_common, lcsh:RC705-779, Narrative medicine, education.field_of_study, business.industry, lcsh:Diseases of the respiratory system, medicine.disease, 030228 respiratory system, Family medicine, business
Abstract

Background: In this project the authors use a narrative medicine (NM) approach to assess the promotion of trust in the relationship between physicians and their asthma patients. Methods: Following a NM educational course for physicians, a research was carried out in which at least 5 written narratives (parallel charts) for each participating physician were collected and qualitatively analysed according to Bury’s classification and the Grounded Theory. Results: The results of this study were of speculative and clinical interest. In particular, 66 participants wrote 314 narratives (246 on adult and 68 on paediatric patients). As a result of applying the NM approach, when the relationships remained problematic, many physicians wrote with a moral style about their adult (67%), and paediatric patients (33%) - especially in cases of asthmatic children’s or adolescents’ overprotective or absent families (40%) -. On the contrary, physicians who were able to listen to their patients with empathy (35%) made more shared decisions with patients, even with those they initially had a bad relationship. The used words of welcome, interest and acceptance were promoting patients’ trust that lead to restoring their activities in 45% of cases, according to physicians self-reporting. Conclusions: These approaches of NM are useful in daily clinical practice, with the goal of improving the quality of life (QOL) of patients with severe asthma, even in cases in which the doctor-patient relationship isn’t initially good.

Published
2019

4. Adherence to guidelines for management of children hospitalized for acute diarrhea

Author

Lo Vecchio, A, Liguoro, I, Bruzzese, D, Scotto, R, Parola, L, Gargantini, G, Guarino, A, Accreditation, Quality Improvement Working Group of Italian Society of Pediatrics Kosova, P, Di Benedetto, L, Gattinara, Gc, Cursi, L, Parmigiani, S, Maddaluno, S, Campa, A, Caroccia, C, Adamoli, P, Forchì, G, Di Bari, C, Daniele, Rm, Saitta, F, Di Fraia, T, Bellettato, M, Meneghini, A, Principi, N, Esposito, S, Borgna, C, Fiumana, E, Zanconato, S, Masiero, S, Paravati, F, Pacenza, C, Cherubini, S, Frasca, D, Siani, P, De Brasi, D, Montrasio, G, Parolo, E, Podestà, Af, Tonella, M, Longhi, R, Ortisi, Mt, Rondanini, G, Calzi, P, Zucchinetti, P, Insolvibile, A, Navone, C, Ventura, F, Parisi, G, Isolato, V, Martemucci, L, D'Avino, P, Vetrano, G, Limongelli, Mg, Icilio, D, Muccioli, R., COLELLA, Maria Grazia, PACE, Maria Caterina, PERRONE, Laura, CAPRISTO, Carlo, Lo Vecchio, A, Liguoro, I, Bruzzese, D, Scotto, R, Parola, L, Gargantini, G, Guarino, A, Accreditation, Quality Improvement Working Group of Italian Society of Pediatrics Kosova, P, Di Benedetto, L, Gattinara, Gc, Cursi, L, Parmigiani, S, Maddaluno, S, Campa, A, Caroccia, C, Adamoli, P, Forchì, G, Di Bari, C, Daniele, Rm, Saitta, F, Di Fraia, T, Bellettato, M, Meneghini, A, Principi, N, Esposito, S, Borgna, C, Fiumana, E, Zanconato, S, Masiero, S, Paravati, F, Pacenza, C, Colella, Maria Grazia, Cherubini, S, Frasca, D, Siani, P, De Brasi, D, Montrasio, G, Parolo, E, Podestà, Af, Tonella, M, Longhi, R, Ortisi, Mt, Rondanini, G, Calzi, P, Zucchinetti, P, Insolvibile, A, Navone, C, Ventura, F, Parisi, G, Isolato, V, Pace, Maria Caterina, Martemucci, L, D'Avino, P, Vetrano, G, Limongelli, Mg, Perrone, Laura, Capristo, Carlo, Icilio, D, Muccioli, R., LO VECCHIO, Andrea, Bruzzese, Dario, and Guarino, Alfredo

Subjects
Diarrhea, Male, Microbiological Techniques, Microbiology (medical), Acute diarrhea, medicine.medical_specialty, Psychological intervention, Guidelines, Health Services Misuse, Hospital, Internal medicine, medicine, Humans, Prospective Studies, Medical prescription, Child, Preschool, Antidiarrheals, Prospective cohort study, book, Pediatric gastroenterology, Adherence, Gastroenteritis, Acute Disease, Anti-Bacterial Agents, Child, Preschool, Feeding Behavior, Female, Guideline Adherence, Hospitalization, Infant, Italy, Practice Guidelines as Topic, Probiotics, business.industry, Hepatology, Antidiarrheal Drugs, Infectious Diseases, Pediatrics, Perinatology and Child Health, Emergency medicine, Pediatric Infectious Disease, book.journal, business
Abstract

BACKGROUND: The major burden of acute gastroenteritis (AGE) in childhood is related to its high frequency and the large number of hospitalizations, medical consultations, tests and drug prescriptions. The adherence to evidence-based recommendations for AGE management in European countries is unknown. The purpose of the study was to compare hospital medical interventions for children admitted for AGE with recommendations reported in the European Societies of Pediatric Gastroenterology, Hepatology and Nutrition and Pediatric Infectious Diseases guidelines. METHODS: A multicenter prospective study was conducted in 31 Italian hospitals. Data on children were collected through an online clinical reporting form and compared with European Societies of Pediatric Gastroenterology, Hepatology and Nutrition and Pediatric Infectious Diseases guidelines for AGE. The main outcomes were the inappropriate hospital admissions and the percentage of compliance to the guidelines (full >90%, partial >80% compliance) based on the number and type of violations to evidence-based recommendations. RESULTS: Six-hundred and twelve children (53.6% male, mean age 22.8 ± 15.4 months) hospitalized for AGE were enrolled. Many hospital admissions (346/602, 57.5%) were inappropriate. Once admitted, 20.6% (126/612) of children were managed in full compliance with the guidelines and 44.7% (274/612) were managed in partial compliance. The most common violations were requests for microbiologic tests (404; 35.8%), diet changes (310; 27.6%) and the prescription of non-recommended probiotics (161; 14.2%), antibiotics (103; 9.2%) and antidiarrheal drugs (7; 0.6%). CONCLUSIONS: Inappropriate hospital admissions and medical interventions are still common in the management of children with AGE in Italy. Implementation of guidelines recommendations is needed to improve quality of care

Published
2014

5. Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity

Author

Maria Siano, Pietro Strisciuglio, Valentina Pinna, Serena Cabaro, F. Di Candia, S. Sestito, D. Melis, D. De Brasi, Maria Alessio, Vittoria D'Esposito, Stefano Pagano, Pietro Formisano, Marco Tartaglia, Daniela Concolino, V. Marchetti, Giuseppe Perruolo, A. De Luca, Siano, M A, Marchetti, V, Pagano, S, Di Candia, F, Alessio, M, De Brasi, D, De Luca, A, Pinna, V, Sestito, S, Concolino, D, Tartaglia, M, Strisciuglio, P, D'Esposito, V, Cabaro, S, Perruolo, G, Formisano, P, and Melis, D

Subjects
medicine.medical_specialty, Cellular immunity, Inflammatory cytokine, Antigens, CD19, Autoimmunity, CD8 T cells, RASopathy, medicine.disease_cause, Autoimmune Disease, Gastroenterology, Autoimmune Diseases, Immune system, Psoriasis, Internal medicine, medicine, Humans, Pharmacology (medical), Genetics (clinical), Autoimmune disease, Immunity, Cellular, biology, business.industry, Research, Autoantibody, General Medicine, medicine.disease, Inflammatory cytokines, CD8 T cell, biology.protein, Medicine, Antibody, business, Human
Abstract

Background Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of immune system dysfunction in a cohort of patients affected by RASopathies. Study design A group of 69 patients was enrolled: 60 at the Federico II University, Naples, 7 at University Magna Graecia of Catanzaro, 2 at “Scuola Medica Salernitana”, Salerno. An age- and sex-matched control group was also enrolled. Autoimmune disorders were investigated according to international consensus criteria. Immune framework was also evaluated by immunoglobulin levels, CD3, CD4, CD8, CD19, CD56 lymphocyte subpopulations, autoantibodies levels and panel of inflammatory molecules, in both patients and controls. Results Frequent upper respiratory tract infections were recorded in 2 patients; pneumonia, psoriasis and alopecia in single patients. Low IgA levels were detected in 8/44 patients (18.18%), low CD8 T cells in 13/35 patients (37.14%). Anti-tg and anti-TPO antibodies were detected in 3/24 patients (12.5%), anti r-TSH in 2 cases (8.33%), all in euthyroidism. Serum IgA and CD8 levels were significantly lower in patients than in controls (p 0.00685; p 0.000656 respectively). All tested patients showed increased inflammatory molecules compared to controls. These findings may anticipate the detection of overt autoimmune disease. Conclusions Patients affected by RASopathies are at risk to develop autoimmune disorders. Routine screening for autoimmunity is recommended in patients with RASopathy.

Published
2021

6. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant

Author

Francesco Musacchia, Valentina Duga, Antonietta Coppola, Valeria Capra, Corrado Romano, Diego Carrella, Annalaura Torella, Margherita Mutarelli, Stefano D'Arrigo, Martino Montomoli, Michele Pinelli, Nicola Brunetti-Pierri, Vincenzo Nigro, Gerarda Cappuccio, Chiara Pantaleoni, Raffaele Castello, Luisa Chiapparini, Claudia Ciaccio, Sandro Banfi, Albina Tummolo, Silvia Maitz, Daniele De Brasi, Isabella Moroni, Giuseppina Vitiello, Vincenzo Leuzzi, Silvia Esposito, Donatella Milani, Marcella Zollino, Giancarlo Parenti, Claudia Santoro, Angelo Selicorni, Ciaccio, C., Duga, V., Pantaleoni, C., Esposito, S., Moroni, I., Pinelli, M., Castello, R., Nigro, V., Chiapparini, L., D'Arrigo, S., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., and Santoro, C.

Subjects
Microcephaly, Ataxia, Adolescent, Developmental Disabilitie, Developmental Disabilities, Mutation, Missense, Intellectual disability, Disease, Compound heterozygosity, Settore MED/03 - GENETICA MEDICA, Short stature, Young Adult, Genetics, Humans, Medicine, Abnormalities, Multiple, Global developmental delay, Genetics (clinical), Loss function, DNA-Repair, business.industry, Homozygote, Syndrome, General Medicine, medicine.disease, Pedigree, Phenotype, Female, medicine.symptom, TELO2, business, Human
Abstract

Biallelic loss of function of TELO2 gene cause a severe syndromic disease mainly characterized by global developmental delay with poor motor and language acquisitions, microcephaly, short stature, minor facial and limbs anomalies, sleep disorder, spasticity, and balance impairment up to ataxia. TELO2-related syndrome, also known as You-Hoover-Fong Syndrome, is extremely rare and since its first description in 2016 only 8 individuals have been reported, all showing a severe disability. The causative gene is member of the big molecular family of genes responsible for cells proliferation and DNA stability. We describe the case of two sisters, carrying the homozygous p. Arg609His variant of the gene, who present a milder phenotype of TELO2-related syndrome. Such variant has been reported once in a more severely affected patient, in compound heterozygous state associated with the p. Pro260Leu variant, suggesting a possible role of the p. Arg609His variant in determining milder phenotypes. Comparing the siblings with all previously reported cases, we offer an overview on the condition and discuss TELO2 genetic interactions, in order to further explore the molecular bases of this recently described disorder.

Published
2021

7. Systemic Cat-Scratch Disease: a 'Troublesome' Diagnosis

Author

Francesco Esposito, Francesco Maria Rosanio, Claudio Santoro, Paolo Siani, Pietro Vajro, Andrea Lo Vecchio, M. Sarno, Claudia Mandato, Daniele De Brasi, Sarno, M., Rosanio, F. M., De Brasi, D., Santoro, C., Lo Vecchio, A., Esposito, F., Siani, P., Vajro, P., and Mandato, C.

Subjects
Microbiology (medical), Adolescent, Fever, liver absce, Fluorescent Antibody Technique, Azithromycin, law.invention, 03 medical and health sciences, 0302 clinical medicine, children, law, 030225 pediatrics, Anti-Bacterial Agent, medicine, Humans, Serologic Tests, 030212 general & internal medicine, Polymerase chain reaction, Bartonella henselae, medicine.diagnostic_test, biology, business.industry, Diagnostic test, Cat-Scratch Disease, Cat-scratch disease, biology.organism_classification, medicine.disease, Anti-Bacterial Agents, Infectious Diseases, cat scratch disease, Immunoassay, Doxycycline, Pediatrics, Perinatology and Child Health, Immunology, biology.protein, Drug Therapy, Combination, Female, Antibody, business, indirect immunofluorescent antibody assay (IFA), Human
Abstract

Diagnosis of systemic cat scratch disease may be challenging. Here, we describe a case of an immunocompetent girl exhibiting fever and multifocal hepatosplenic abscesses. Diagnostic tests for Bartonella henselae infection (enzyme immunoassay and polymerase chain reaction) were found steadily negative and the diagnosis, suspected on the basis of the Margilet's criteria, was finally confirmed by indirect immunofluorescent antibodies.

Published
2020

8. Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?

Author

Alessandra D'Amico, Claudia Santoro, Livio Sorrentino, Ferdinando Aliberti, Pia Bernardo, Carmela Russo, Mauro Budetta, Giuseppe Cinalli, Maria Luisa Carpentieri, Daniele De Brasi, Antonietta Coppola, Bernardo, P., Budetta, M., Aliberti, F., Carpentieri, M. L., De Brasi, D., Sorrentino, L., Russo, C., D'Amico, A., Cinalli, G., Santoro, C., and Coppola, A.

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Neurology, Hypochondroplasia, Dwarfism, Dermatology, Hippocampal formation, Hippocampus, Temporal lobe malformation, Temporal lobe, Muenke syndrome, 03 medical and health sciences, Epilepsy, Hippocampu, 0302 clinical medicine, Neuroimaging, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 3, Temporal lobe malformations, 030212 general & internal medicine, Child, Neuroradiology, business.industry, FGFR3 mutation, Focal epilepsy, General Medicine, musculoskeletal system, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, stomatognathic diseases, Psychiatry and Mental health, Epilepsy, Temporal Lobe, Mutation, Neurology (clinical), Epilepsies, Partial, business, 030217 neurology & neurosurgery, Human
Abstract

Temporal lobe abnormalities and focal epilepsy have been documented in FGFR3-related clinical condition, including hypochondroplasia and Muenke syndrome. FGFR3 is expressed in the brain during development and could play a role in nervous system development and hippocampal formation. These observations suggest a non-casual association between temporal malformation, epilepsy, and FGFR3 mutations. Herein, we report clinical, electroclinical, and neuroimaging findings of three additional cases of focal epilepsy and temporal lobe malformations occurring in children with FGFR3 gene mutations.

Published
2020

9. Case of Myhre syndrome with autism and peculiar skin histological findings

Author

Luigi Titomanlio, Elena Rossi, Av Orsini, Gianfranco Sebastio, Maria D'Armiento, Mv Andreucci, Lucia Santoro, Mg Marzano, D. De Brasi, Gr Vega, Titomanlio, L, Marzano, Mg, Rossi, E, D'Armiento, Maria, De Brasi, D, Vega, Gr, Andreucci, Mv, Orsini, Av, Santoro, L, Sebastio, Gianfranco, D'Armiento, M, and Santoro, Lucio

Subjects
Male, medicine.medical_specialty, Adolescent, Craniofacial abnormality, Short stature, Craniofacial Abnormalities, Muscular Diseases, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Autistic Disorder, Myhre syndrome, Growth Disorders, Genetics (clinical), business.industry, Syndrome, medicine.disease, Blepharophimosis, Dermatology, Developmental disorder, Muscular build, El Niño, Cytogenetic Analysis, Skin Abnormalities, Autism, medicine.symptom, business
Abstract

Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility. We report on a 14-year-old boy with clinical findings consistent with a diagnosis of Myhre syndrome, associated with autism and peculiar skin histological findings.

Published
2001

10. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature

Author

Fiorella Gurrieri, Francesca Rivieri, D. De Brasi, Daniela Turchetti, Vera Uliana, R. Bergamaschi, Marco Seri, Livia Garavelli, Silvia Sassi, Giovanni Neri, S. Bernasconi, Eva Pompilii, M. Zignani, Francesca Faravelli, Rosa Mostardini, Alessandra Renieri, N. Wakamatsu, P. Cerruti Mainardi, Paolo Emilio Bianchi, Maurizia Grasso, Maria Pia Sperandeo, Margherita Silengo, Francesca Mari, Anita Wischmeijer, Maria Gnoli, F. Forzano, Daniela Orteschi, Gianfranco Sebastio, Guido Cocchi, F. Soli, Marcella Zollino, E. Favaron, R. Verri, Massimiliano Cecconi, Enrico Albertini, Laura Mazzanti, Garavelli L., Zollino M., Cerruti Mainardi P., Gurrieri F., Rivieri F., Soli F., Verri R., Albertini E., Favaron E., Zignani M., Orteschi D., Bianchi P., Faravelli F., Forzano F., Seri M., Wischmeijer A., Turchetti D., Pompilii E., Gnoli M., Cocchi G., Mazzanti L., Bergamaschi R., De Brasi D., Sperandeo M.P., Mari F., Uliana V., Mostardini R., Cecconi M., Grasso M., Sassi S., Sebastio G., Renieri A., Silengo M., Bernasconi S., Wakamatsu N., and Neri G.

Subjects
Male, Pediatrics, Aging, Chromosomes, Artificial, Bacterial, Indoles, Hirschsprung disease, facial phenotype, Disease, medicine.disease_cause, Polymerase Chain Reaction, Craniofacial Abnormalities, Epilepsy, ZEB2 GENE, Mowat-Wilson syndrome, Young adult, Agenesis of the corpus callosum, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, ZEB2, Mutation, Nucleic Acid Hybridization, Dextrans, Syndrome, 2Q21-Q23 MICRODELETIONS, Phenotype, Italy, Child, Preschool, Female, medicine.medical_specialty, Heterozygote, Adolescent, Mowat–Wilson syndrome, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Fluorescent Dyes, Zinc Finger E-box Binding Homeobox 2, Homeodomain Proteins, business.industry, Infant, medicine.disease, Repressor Proteins, Hypospadias, business
Abstract

Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. (1998); J Med Genet 35:617–623], ∼179 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21–q23 microdeletions (or different chromosome rearrangements) in few patients, and ZEB2 mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition. © 2009 Wiley-Liss, Inc.

Published
2009

11. Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome

Author

Alvaro A. Diano, Rita Genesio, Alfonso Romano, Ennio Del Giudice, Daniele De Brasi, Luigi Titomanlio, Titomanlio, L, DE BRASI, D, Romano, A, Genesio, R, Diano, Aa, and DEL GIUDICE, Ennio

Subjects
Male, Chromosomes, Artificial, Bacterial, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Autopsy, Mri studies, Cerebellum, Cerebellar hemisphere hypoplasia, Internal medicine, medicine, Humans, Cerebellar hypoplasia, business.industry, Infant, nutritional and metabolic diseases, Fish analysis, General Medicine, medicine.disease, Magnetic Resonance Imaging, nervous system diseases, Endocrinology, Pediatrics, Perinatology and Child Health, business, Chromosomes, Human, Pair 19, Prader-Willi Syndrome
Abstract

UNLABELLED We report a 3-y-old male infant with Prader-Willi syndrome (PWS) caused by a de novo interstitial deletion of 15q11-q13. Additional features included a right cerebellar hemisphere hypoplasia. The extent of deletion was determined by FISH analysis using an SNRPN PW/AS probe that maps in the PWS/AS critical region (CR) and with specific 15q BACs. We unravelled an interstitial 15q11.2-q13.1 deletion spanning about 3 Mb. CONCLUSION To date only a few other PWS patients--including autopsy cases--with CNS structural anomalies have been described. Our case report adds knowledge to the issue of brain involvement in Prader-Willi syndrome. Further MRI studies of PWS patients will be helpful to clarify a correlation between PWS and brain abnormalities.

Published
2006

12. A new patient with Lowry-Wood syndrome with mild phenotype

Author

Giovanni Camera, Daniele De Brasi, Gianfranco Sebastio, Generoso Andria, Shiro Ikegawa, Nicola Brunetti-Pierri, BRUNETTI PIERRI, Nicola, De Brasi, D, Ikegawa, S, Camera, G, Andria, G, and Sebastio, G.

Subjects
medicine.medical_specialty, Microcephaly, Mild phenotype, Lowry-Wood Syndrome, DNA Mutational Analysis, Genes, Recessive, Cartilage Oligomeric Matrix Protein, Multiple epiphyseal dysplasia, Central nervous system disease, Autosomal recessive trait, Internal medicine, medicine, Humans, Matrilin Proteins, Abnormalities, Multiple, Genetics (clinical), Glycoproteins, Cartilage oligomeric matrix protein, Extracellular Matrix Proteins, biology, business.industry, Infant, Newborn, medicine.disease, Phenotype, Endocrinology, Child, Preschool, biology.protein, business
Abstract

Lowry-Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), microcephaly, and congenital nystagmus. A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. Molecular analysis of the cartilage oligomeric matrix protein (COMP) gene was performed and failed to find mutations.

Published
2003

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