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Hearing Disorders: HELP
Articles from Azienda Ospedaliera Niguarda Ca' Granda
Based on 4 articles published since 2010
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These are the 4 published articles about Hearing Disorders that originated from Azienda Ospedaliera Niguarda Ca' Granda during 2010-2020.
 
+ Citations + Abstracts
1 Article Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. 2017

Maas, Roeltje R / Iwanicka-Pronicka, Katarzyna / Kalkan Ucar, Sema / Alhaddad, Bader / AlSayed, Moeenaldeen / Al-Owain, Mohammed A / Al-Zaidan, Hamad I / Balasubramaniam, Shanti / Barić, Ivo / Bubshait, Dalal K / Burlina, Alberto / Christodoulou, John / Chung, Wendy K / Colombo, Roberto / Darin, Niklas / Freisinger, Peter / Garcia Silva, Maria Teresa / Grunewald, Stephanie / Haack, Tobias B / van Hasselt, Peter M / Hikmat, Omar / Hörster, Friederike / Isohanni, Pirjo / Ramzan, Khushnooda / Kovacs-Nagy, Reka / Krumina, Zita / Martin-Hernandez, Elena / Mayr, Johannes A / McClean, Patricia / De Meirleir, Linda / Naess, Karin / Ngu, Lock H / Pajdowska, Magdalena / Rahman, Shamima / Riordan, Gillian / Riley, Lisa / Roeben, Benjamin / Rutsch, Frank / Santer, Rene / Schiff, Manuel / Seders, Martine / Sequeira, Silvia / Sperl, Wolfgang / Staufner, Christian / Synofzik, Matthis / Taylor, Robert W / Trubicka, Joanna / Tsiakas, Konstantinos / Unal, Ozlem / Wassmer, Evangeline / Wedatilake, Yehani / Wolff, Toni / Prokisch, Holger / Morava, Eva / Pronicka, Ewa / Wevers, Ron A / de Brouwer, Arjan P / Wortmann, Saskia B. ·Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands. · Department of Audiology and Phoniatrics, Children's Memorial Health Institute, Warsaw, Poland. · Division of Metabolic Disease, Ege University Medical Faculty, Department of Pediatrics, Izmir, Turkey. · Institute of Human Genetics, Technische UniversitätMünchen, Munich, Germany. · Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. · Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. · Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia. · Discipline of Genetic Medicine & Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia. · Department of Pediatrics, University Hospital Center, Zagreb, Croatia. · School of Medicine, University of Zagreb, Zagreb, Croatia. · Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia. · Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padua, Padua, Italy. · Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia. · Genetic Metabolic Disorders Research Unit and Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia. · Discipline of Child and Adolescent Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia. · Departments of Pediatrics and Medicine, Columbia University, New York, NY. · Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University of the Sacred Heart, Rome, Italy. · Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy. · Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Queen Silvia's Children's Hospital, Gothenburg, Sweden. · Childrens Hospital, Klinikum Reutlingen, Reutlingen, Germany. · Inborn Errors of Metabolism and Mitochondrial Disease Unit, "12 de Octubre" University Hospital, Avenida de Cordoba sn, 28041 Madrid, Spain. Rare Diseases Biomedical Research Centre (CIBERER), Madrid, Spain. · Complutense University, Madrid, Spain. · Metabolic Medicine Department, Great Ormond Street Hospital for Children National Health Service Foundation Trust, University College London Institute of Child Health, London, United Kingdom. · Institute of Medical Genetics and Applied Genomics, Tübingen, Germany. · Wilhelmina Children's Hospital Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands. · Department of Pediatrics, Haukeland University Hospital, Bergen, Norway. · Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway. · Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany. · Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. · Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland. · Department of Biology and Microbiology, Riga Stradin's University, Riga, Latvia. · Department of Pediatrics, Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria. · Leeds Teaching Hospitals National Health Service Trust, Leeds, United Kingdom. · Pediatric Neurology, Brussels University Hospital, Brussels, Belgium. · Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden. · Division of Clinical Genetics, Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia. · Department of Clinical Biochemistry, Radioimmunology, and Experimental Medicine, Children's Memorial Health Institute, Warsaw, Poland. · University College London Great Ormond Street Institute of Child Health, London, United Kingdom. · Department of Pediatric Neurology, Red Cross War Memorial Children's Hospital, Cape Town, South Africa. · Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. · German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. · Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany. · Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany. · Reference Center for Inherited Metabolic Diseases, AP-HP, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité, Paris, France AND INSERM U1141, Paris, France. · Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. · Metabolic Unit, Dona Estefânia Hospital, Lisbon, Portugal. · Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom. · Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland. · Division of Metabolic Diseases, Hacettepe University Children's Hospital, Ankara, Turkey. · Birmingham Children's Hospital, Birmingham, United Kingdom. · Nottingham University Hospitals National Health Service Trust, Nottingham Children's Hospital, Nottingham, United Kingdom. · Institute of Human Genetics, Helmholtz Center Munich, Neuherberg, Germany. · Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, LA. · Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland. · Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. ·Ann Neurol · Pubmed #29205472.

ABSTRACT: OBJECTIVE: 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. RESULTS: Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days-33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic "putaminal eye" was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills. INTERPRETATION: MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004-1015.

2 Article The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. 2017

Palazzo, Viviana / Provenzano, Aldesia / Becherucci, Francesca / Sansavini, Giulia / Mazzinghi, Benedetta / Orlandini, Valerio / Giunti, Laura / Roperto, Rosa Maria / Pantaleo, Marilena / Artuso, Rosangela / Andreucci, Elena / Bargiacchi, Sara / Traficante, Giovanna / Stagi, Stefano / Murer, Luisa / Benetti, Elisa / Emma, Francesco / Giordano, Mario / Rivieri, Francesca / Colussi, Giacomo / Penco, Silvana / Manfredini, Emanuela / Caruso, Maria Rosa / Garavelli, Livia / Andrulli, Simeone / Vergine, Gianluca / Miglietti, Nunzia / Mancini, Elena / Malaventura, Cristina / Percesepe, Antonio / Grosso, Enrico / Materassi, Marco / Romagnani, Paola / Giglio, Sabrina. ·Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy. · Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy. · Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy. · Endocrinology Unit, Department of Health Sciences, University of Florence, Florence, Italy. · Pediatric Nephrology Dialysis and Transplant Unit, Department of Pediatrics, University of Padua, Padua, Italy. · Nephrology Dialysis, Transplant, Bambin Gesù Children's Hospital, Roma, Italy. · Pediatric Nephrology and Dialysis Unit, Children's Hospital Giovanni XXIII, Bari, Italy. · Medical Genetic Service, Department of Laboratory, S. Chiara Hospital, Trento, Italy. · Division of Nephrology, Dialysis and Renal Transplantation, Niguarda Ca'Granda Hospital, Milan, Italy. · Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca'Granda Hospital, Milan, Italy. · Nephrology and Dialysis Unit, Papa Giovanni XXIII Hospital, Bergamo, Italy. · Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS S. Maria Nuova Hospital, Reggio Emilia, Italy. · Department of Nephrology and Dialysis, Alessandro Manzoni Hospital, Lecco, Italy. · Pediatric Unit, Ospedale degli Infermi, Rimini, Italy. · Pediatric Unit, Azienda Ospedaliera Spedali Civili, Brescia, Italy. · Division of Nephrology, Dialysis and Hypertension, Policlinico S. Orsola-Malpighi, Bologna, Italy. · Department of Medical Sciences, Section of Pediatrics, University of Ferrara, Italy. · Medical Genetics, Department of Clinical and Experimental Medicine, University Hospital of Parma, Italy. · Department of Medical Sciences, University of Torino, Turin, Italy. · Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy; Nephrology and Dialysis Unit, Meyer Children's University Hospital, Florence, Italy; Excellence Center DENOTHE, University of Florence, Florence, Italy. · Department of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy. Electronic address: s.giglio@meyer.it. ·Kidney Int · Pubmed #28233610.

ABSTRACT: Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly described in association with mutations in one gene instead of the others. Nevertheless, the diagnosis of distal renal tubular acidosis is essentially based on clinical and laboratory findings, and the series of patients described so far are usually represented by small cohorts. Therefore, a strict genotype-phenotype correlation is still lacking, and questions about whether clinical and laboratory data should direct the genetic analysis remain open. Here, we applied next-generation sequencing in 89 patients with a clinical diagnosis of distal renal tubular acidosis, analyzing the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and the clinical phenotype. A genetic cause was determined in 71.9% of cases. In our group of sporadic cases, clinical features, including sensorineural hearing loss, are not specific indicators of the causal underlying gene. Mutations in the ATP6V0A4 gene are quite as frequent as mutations in ATP6V1B1 in patients with recessive disease. Chronic kidney disease was frequent in patients with a long history of the disease. Thus, our results suggest that when distal renal tubular acidosis is suspected, complete genetic testing could be considered, irrespective of the clinical phenotype of the patient.

3 Article Ca 2017

Picher, Maria Magdalena / Gehrt, Anna / Meese, Sandra / Ivanovic, Aleksandra / Predoehl, Friederike / Jung, SangYong / Schrauwen, Isabelle / Dragonetti, Alberto Giulio / Colombo, Roberto / Van Camp, Guy / Strenzke, Nicola / Moser, Tobias. ·Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Goettingen, 37099 Goettingen, Germany; tmoser@gwdg.de mm.picher@gmail.com. · Goettingen Graduate School for Neurosciences, Biophysics, and Molecular Biosciences, University of Goettingen, 37077 Goettingen, Germany. · Bernstein Center for Computational Neuroscience, University of Goettingen, 37077 Goettingen, Germany. · Synaptic Nanophysiology Group, Max Planck Institute for Biophysical Chemistry, 37077 Goettingen, Germany. · Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Goettingen, 37099 Goettingen, Germany. · Auditory Systems Physiology Group, InnerEarLab, Department of Otolaryngology, University of Goettingen Medical Center, 37075 Goettingen, Germany. · Max Planck Institute for Experimental Medicine, 37075 Goettingen, Germany. · Center for Nanoscale Microscopy and Molecular Physiology of the Brain, University of Goettingen, 37075 Goettingen, Germany. · Neuro Modulation and Neuro Circuitry Group, Biomedical Sciences Institutes, Singapore Bioimaging Consortium, Biomedical Sciences Institutes, 138667 Singapore. · Department of Medical Genetics, University of Antwerp, 2610 Antwerp, Belgium. · Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004. · Otorhinolaryngology, Department of Surgery, Niguarda Ca' Granda Metropolitan Hospital, 20162 Milan, Italy. · Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, 20162 Milan, Italy. · Institute of Clinical Biochemistry, Catholic University of the Sacred Heart, 00198 Rome, Italy. ·Proc Natl Acad Sci U S A · Pubmed #28183797.

ABSTRACT: Ca

4 Article Early pain relief from orthostatic headache and hearing changes in spontaneous intracranial hypotension after epidural blood patch. 2016

Ferrante, Enrico / Olgiati, Elena / Sangalli, Valentina / Rubino, Fabio. ·Department of Neuroscience, Headache Centre, Niguarda Ca' Granda Hospital, Milan, Italy. enricoferrante@libero.it. · Department of Medicine, Division of Brain Sciences, Imperial College London, London, UK. · Department of Neuroscience, Headache Centre, Niguarda Ca' Granda Hospital, Milan, Italy. · Department of Anaesthesiology, Niguarda Ca' Granda Hospital, Milan, Italy. ·Acta Neurol Belg · Pubmed #26908033.

ABSTRACT: Spontaneous intracranial hypotension (SIH) is a neurological condition characterized by orthostatic headache (OH), low cerebrospinal fluid (CSF) pressure and diffuse pachymeningeal enhancement on brain magnetic resonance imaging (MRI). Hearing changes (HC) are also a common clinical finding. At present, epidural blood patch (EBP) is the most recommended treatment. Our study aimed at describing clinical variability of SIH patients. We also aimed at measuring the EBP efficacy on OH and HC in patients affected by SIH, by asking them to rate their levels of discomfort on a VAS. 28 consecutive patients were recruited. All of them complained about OH, 16 of them also reported HC. They were all treated with EBP. Two clinical psychologists interviewed them before and after the procedure, asking to rate the intensity of their OH and HC on a VAS at different time points: the day before the procedure, between 24 and 48 h after it and 2 months after treatment. Before EBP, patients rated their OH as 5 (IQR 2-7) and their HC as 4 (IQR 2-5.75). 24/48 h after EBP, a significant improvement in OH (median 0, IQR 0-0; p < 0.001) and HC (median 1, IQR 0-2; p < 0.05) was found. At follow up assessments, all patients reported a complete relief from their OH and four out of 16 patients only still reported mild HC. Our data show for the first time the early and durable efficacy of EBP on OH and HC in patients affected by SIH.