Results 61 to 70 of about 75,481 (297)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +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

Can unilateral, progressive or sudden hearing loss be immune-mediated in origin? [PDF]

, 2017
OBJECTIVE: The aim of the present study was to demonstrate that the positivity of nonspecific immunological tests could be found not only in bilateral hearing loss but also in unilateral cases, either sudden or progressive. METHOD: An observational case
Atturo, Francesca, Bandiera, Giorgio, Barbara, Maurizio, Colangeli, R, Monini, Simonetta   +4 more
core   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
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

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

Essential of audiology: screening and postscreening [PDF]

, 2014
Newborn hearing screening is a type of screening test for the early detection of hearing loss. It can recognize with good accuracy newborns affected by hearing impairment allowing an early diagnosis and intervention and avoiding cognitive and ...
Cocuzza, S, La Mattina, E, Martinelli, S, MARTINES, Enrico, MARTINES, Francesco, MUCIA, Marianna, SALVAGO, Pietro   +6 more
core   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Sensorineural Hearing Loss Due to Pegylated Interferon Alfa/Ribavirin Therapy: A Case Report

Viral Hepatitis Journal, 2012
The effect of interferon alpha in chronic viral hepatitis and common side effects are well known, but hearing loss have been rarely reported. A 66-year-old woman was administered peg- interferon alpha-2a (180 mcg, one times a week) and ribavirin(1200 mg ...
Tuğba SARI, Süda TEKİN KORUK, Alaaddin ZİREK   +2 more
doaj   +1 more source