Results 31 to 40 of about 109,929 (262)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

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, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

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, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Language, thought and deafness : conceptual and methodological issues, with reference to visual-spatial processing, control of attention and sign language [PDF]

, 1990
A review of the literature indicated that a reappraisal of the conceptual and methodological approach to the study of deafness was necessary if research is to explain why deaf children fail to achieve the scholastic potential predicted by I. Q. tests.
Borgia, S, Borgia, Sandi
core  

Factors influencing the decision for Baha in unilateral deafness: the Bern benefit in single-sided deafness questionnaire

, 2011
The data of 46 adults with single-sided sensorineural deafness who were candidates for bone-anchored hearing aids (Baha) CROS (contralateral routing of signals) were analyzed.
Pfiffner, Flurin, Kompis, Martin, Caversaccio, Marco-Domenico, Martin Kompis, Flurin Pfiffner, Martin Krebs, Krebs, Martin, Marco-Domenico Caversaccio   +7 more
core   +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, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Associations Between Comorbidities, Developmental Status, and Disease Severity in Children With Autism Spectrum Disorder: A Multicenter Cross‐Sectional Study in China

Autism Research, EarlyView.
ABSTRACT Children with autism spectrum disorder (ASD) frequently present with co‐occurring conditions that can influence autism symptom severity and complicate clinical management. However, studies with clinician‐confirmed diagnoses in non‐Western populations remain limited.
Dizhou Pang, Guiqin Duan, Qing Shang, Huichun Zhang, Binbin Wang, Huaili Ding, Huihui Kang, Yue Zhao, Yuxia Lu, Gai Tian, Li Zhang, Wu Jiang, Ganyu Wang, Cailing Liang, Lingling Zhang, Bingbing Li, Zhenghua Li, Chunlan Song, Yanyan Yang, Yazhe Wang, Kaichen Yue, Yongbin Lang, Jiatian Liu, Xiaoli Zhang, Yiran Xu, Changlian Zhu   +25 more
wiley   +1 more source

Adverse events in bedaquiline‐ and pretomanid‐based regimens for drug‐resistant tuberculosis from trial, implementation and pharmacovigilance studies

British Journal of Clinical Pharmacology, EarlyView.
Abstract The availability of safety data, particularly concerning adverse events (AEs) associated with the new shorter regimen for drug‐resistant tuberculosis (TB) containing a bedaquiline–pretomanid‐based regimen, is still limited. This systematic review aims to provide a comprehensive and updated analysis of AEs related to this new regimen by ...
Nisa Maria, Annisa Lazuardi Larasati, Indri Yuliani Hamdani, Jin‐Gun Cho, Jan‐Willem C. Alffenaar   +4 more
wiley   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source