Results 171 to 180 of about 54,480 (306)

Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Autosomal recessive interferon alpha and beta receptor subunit 1 (IFNAR1) deficiency is a rare and heritable inborn error of immunity (IEI) predisposing individuals to severe and life‐threatening viral infections. It is more common in people of Western Polynesian ancestry, with estimates of around one in six thousand live births affected, due ...
Cecilia Verryt, Paul Gray, Peter McNaughton, Jane Peake, Melanie Wong, George Aho, Emma Best, Maia Brewerton, Flora Lutui, Litara Esera Tulifau, Rebecca Qin, Satupa‘itea Viali, Petine White, Andrew Wood, See‐Tarn Woon, Theresa Cole, Alberto Pinzon Charry, Kuang‐Chih Hsiao   +17 more
wiley   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

Experimental Physiology, EarlyView.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu, Gerd Melkus, Tim Ramsay, Alain Berthiaume, Gabriele Armbrecht, Guy Trudel   +5 more
wiley   +1 more source

Multi-scale analysis reveals key targets mediating BPA-induced sensorineural hearing loss. [PDF]

Medicine (Baltimore)
Yan X, Xuan J, Peng J.
europepmc   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1465-1478, July 2026.
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

Prognostic factors for pediatric sudden sensorineural hearing loss: a systematic review and meta-analysis. [PDF]

Front Pediatr
Wu Z, Zhang P, Sun J, Diao M.
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
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

Large Vestibular Aqueduct Syndrome Causing Progressive Hearing Loss in Childhood Article

Pakistan Journal of Medicine and Dentistry
Background: Sensorineural hearing loss in adults is commonly associated with aging, trauma or autoimmune disease. In children, however, sensorineural hearing loss can also be due to genetic causes, leading to malformation of internal ear structures ...
Salman Baig, Sana Ansari, Nash Patel, Nial Considine   +3 more
doaj  

Seasonal effects on incidence and outcomes in idiopathic sudden sensorineural hearing loss. [PDF]

Front Neurol
Ghantous J, Barak S, Yehuda T, Israeli O, Hadar A, Salem R, Sichel JY, Perez R, Shaul C.   +8 more
europepmc   +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, Volume 200, Issue 7, Page 1619-1650, July 2026.
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

Steroids for the Prevention of Sensorineural Hearing Loss Secondary to Acute Otitis Media: A Systematic Review. [PDF]

Int Arch Otorhinolaryngol
Sampaio AFBS, Monsanto RDC, Jorge JJ, Borges GC.   +3 more
europepmc   +1 more source