Results 131 to 140 of about 338,619 (303)

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

Suffering in Silence: The unmet needs of d/Deaf prisoners [PDF]

, 2017
For many, deafness is seen as simply being an inability to hear; a misfortunate affliction making ‘normal’ life difficult.1 However, in reality defining d/Deafness is much more complex than this, with medical conceptions of deafness differing ...
Kelly, Laura
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Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Digital speech hearing screening using a quick novel mobile hearing impairment assessment: an observational correlation study

Scientific Reports
By 2050, 1 in 4 people worldwide will be living with hearing impairment. We propose a digital Speech Hearing Screener (dSHS) using short nonsense word recognition to measure speech-hearing ability. The importance of hearing screening is increasing due to
Russell Banks, Barry R. Greene, Isaiah Morrow, Marissa Ciesla, David Woolever, Sean Tobyne, Joyce Gomes-Osman, Ali Jannati, John Showalter, David Bates, Alvaro Pascual-Leone   +10 more
doaj   +1 more source

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

Speech variability and accuracy in Cantonese-speaking children with hearing impairment : comparison with normal-hearing peers [PDF]

, 2011
This study compared speech accuracy and variability between children with hearing impairment and normal-hearing children. Twenty-seven participants were recruited, including nine children with cochlear-implants (CI), nine children with hearing aids (HA ...
Lee, Pui-sze, 李佩鍶
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The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Effects of occupation on hearing in older adults: a Sri Lankan perspective

BMC Geriatrics
Background Hearing impairment is an important global public health concern and is the fourth leading cause of disability worldwide. Older adults with hearing impairment experience communication difficulties and have a poor quality of life.
G. S. Dissanayake, N. Gunawardana, K.Y.P.K. Weerasekara, M.S.D. Wijesinghe, C. Jayasuriya   +4 more
doaj   +1 more source

Sensory Impairments among Canadians 55 years and Older: An Analysis of 1986 and 1991 Health and Activity Limitation Survey [PDF]

It has been well established that increasing age is associated with worsening health and decreasing functional ability among seniors, including conditions that lead to hearing and seeing impairments.
Joan Lindsay, Larry W. Chambers, Parminder Raina, Steven Dukeshire   +3 more
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