Results 131 to 140 of about 258,829 (315)
پزشکی بالینی ابن سینا, 2002 Any type of hearing loss can create imperfect development of educational skills in primary school children. In this descriptive study different types of hearing loss in 22152 six years old preschool children of Hamadan province were ...
Farhad Farahani
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Rehabilitation for adults: Hearing loss and tinnitus [PDF]
, 2010 Hearing loss and tinnitus are two of the most prevalent chronic conditions in the United States. Studies on the prevalence of hearing loss and tinnitus reveal that, with a growing older population, the number of individuals needing rehabilitation for ...
Pirnia, Cecelia
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Audiology ResearchBackground/Objectives: Cytomegalovirus (CMV)-associated hearing loss is common in non-genetic congenital hearing loss. Despite this high prevalence, a wide range of clinical characteristics exists, and the pattern of hearing loss remains unknown.
Hajime Koyama +6 more
doaj +1 more source
Reducing Noise-Induced Hearing Loss in Longwall Coal Mine Workers [PDF]
The National Institute for Occupational Safety and Health (NIOSH) is conducting research with the objective of preventing hearing loss in the mining industry. Longwall mining is one sector that has received considerable attention.
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Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Smoking Habits in Sudden Hearing Loss [PDF]
, 2002 The most widely accepted theory about the etiology of sudden hearing loss is disturbance of cochlear perfusion. Because of its well-known effects on circulation, smoking could be a risk factor for sudden hearing loss, in the etiology of which disturbance
Aydın Mamak +4 more
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