Results 51 to 60 of about 54,480 (306)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Screening of Connexin 26 in Nonsyndromic Hearing Loss

International Archives of Otorhinolaryngology, 2015
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important.
Danielle Moreira, Daniela da Silva, Priscila Lopez, Jair Cortez Mantovani   +3 more
doaj   +1 more source

Sudden Sensorineural Hearing Loss in a Patient with COVID-19: A Case Report

Journal of Kerman University of Medical Sciences, 2023
Background: Several viral infections may lead to hearing loss. It›s still unknown whether COVID-19 has effects on the auditory system or not. In this regard, to evaluate the possibility of sudden sensorineural hearing loss due to COVID-19, this study ...
Maryam Delphi, Maryam Kardouni
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Behçet disease: do individual symptomatology or certain drug intake reflect the severity of sensory neural hearing loss?

Egyptian Rheumatology and Rehabilitation
Background Behçet disease is a relapsing, chronic, systemic inflammatory illness characterized by mucocutaneous, articular, neurological, urogenital, vascular, intestinal, and pulmonary symptoms in addition to recurrent aphthous stomatitis, genital ...
Dina Osman, Mervat Bahiri, Noha Hassan, Yumn Elsabbagh   +3 more
doaj   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Prevalence Of Sensorineural Hearing Loss Among Stroke

Liaquat Medical Research Journal
This study was designed to determine the prevalence of sensorineural hearing loss among stroke patients. A cross-sectional analytical study was conducted. Medicine department of HMC Peshawar and lady reading hospital (LRH) in Peshawar.
Zarafshan Ahsan, Muhammad Sikander Ghayas Khan, Ayesha Badar, Malik Muhammad Qasim, Ultamish Munir, Hadia Sultan, Tayyaba Usman   +6 more
doaj   +1 more source

Postural control assessment in students with normal hearing and sensorineural hearing loss

Brazilian Journal of Otorhinolaryngology, 2015
INTRODUCTION: Children with sensorineural hearing loss can present with instabilities in postural control, possibly as a consequence of hypoactivity of their vestibular system due to internal ear injury.OBJECTIVE: To assess postural control stability in ...
Renato de Souza Melo, Andrea Lemos, Carla Fabiana da Silva Toscano Macky, Maria Cristina Falcão Raposo, Karla Mônica Ferraz   +4 more
doaj   +1 more source

Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss

Frontiers in Neurology, 2020
Hearing loss not only has a significant impact on the quality of life of patients and society, but its correlation with cognitive decline in an aging population will also increase the risk of incident dementia. While current management of hearing loss is
Vincent Van Rompaey, Vincent Van Rompaey
doaj   +1 more source

Hearing in 44-45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.

, 2012
Background The mitochondrial DNA mutation m.1555A>G predisposes to permanent idiosyncratic aminoglycoside-induced deafness that is independent of dose.
Pearce, K, Rahman, S, Costello, H, Sweeney, MG, Ecob, R, Bitner-Glindzicz, M, Duncan, AJ, Strachan, D, Forge, A, Davis, A   +9 more
core   +1 more source