Results 61 to 70 of about 74,735 (268)

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

Acute bilateral sensorineural hearing loss: an unexpected and early presentation of acute stroke [PDF]

, 2015
We report a case of acute ischemic stroke presented as acute bilateral sensorineural hearing loss. 47 year-old man presented with bilateral hearing loss for one day. Pure tone audiometry revealed moderate bilateral sensorineural hearing loss.
Boo, Yang Liang, Ching, Siew Mooi, Hoo, Fan Kee, Mohd Sazlly Lim, Sazlyna, Ramachandran, Vasudeven, Wan Sulaiman, Wan Aliaa   +5 more
core  

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

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

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

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

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

Patterns of changes in immune and hormonal regulation in hand-arm vibration syndrome and sensorineural hearing loss

Бюллетень сибирской медицины, 2020
The purpose of the research was to identify changes in immune and hormonal regulation in patients with hand-arm vibration syndrome and sensorineural hearing loss to substantiate informative biomarkers.Materials and methods.
G. M. Bodienkova, S. I. Kurchevenko
doaj   +1 more source

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. [PDF]

PLoS ONE, 2016
The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.We developed a ...
Hong Wu, Yong Feng, Lu Jiang, Qian Pan, Yalan Liu, Chang Liu, Chufeng He, Hongsheng Chen, Xueming Liu, Chang Hu, Yiqiao Hu, Lingyun Mei   +11 more
doaj   +1 more source