Results 121 to 130 of about 47,680 (217)

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

Severe Bilateral Sudden Sensorineural Hearing Loss Following Mild COVID-19 Infection Requiring Cochlear Implantation: A Case Report. [PDF]

Clin Case Rep
Šimunjak T, Županović L, Bacan F, Košec A, Ajduk J.   +4 more
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

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

Current Status of Pediatric Hearing Loss Cases in Oita University Hospital From 2016 to 2019. [PDF]

Clin Med Insights Pediatr
Watanabe T, Hirano T.
europepmc   +1 more source

First Reported Case of Fulminant Weil's Disease in South Khorasan, Eastern Iran: Diagnostic Challenges in a Non‐Endemic Region and Implications for Military Deployment

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Weil's disease should be considered even in non‐endemic regions when compatible clinical findings are accompanied by relevant exposure history. This case is epidemiologically notable as the first documented report from South Khorasan Province, highlighting the diagnostic challenges of leptospirosis in non‐endemic settings and the potential ...
Zohreh Azarkar, Anahita Arian, Motahareh Mahi‐Birjand, Parvin Askari   +3 more
wiley   +1 more source

A case of relapsing polychondritis: a diagnostic challenge in recurrent cartilaginous inflammation and hearing loss-A case report. [PDF]

J Med Case Rep
Dari MA, Gdey MM, Wondimu ZT, Assefa NC.
europepmc   +1 more source

Hearing Loss in Adults With Diabetes and Prediabetes: A Systematic Review and Meta‐Analysis

Diabetes/Metabolism Research and Reviews, Volume 42, Issue 5, July 2026.
ABSTRACT Diabetes impairs hearing through microvascular damage and neuropathy, yet the prevalence of moderate‐to‐severe hearing loss (≥ 40 dB HL) remains inadequately explored. Variations by age, diabetes duration, and socioeconomic factors are inadequately characterised. This systematic review quantified the prevalence and comparative risk of moderate‐
Mehwish Nisar, Shamshad Karatela, Anjana Rajagopal, Beenish Nisar Ahmed, Piers Dawes   +4 more
wiley   +1 more source

Ischemic cerebellar infarction due to isolated anterior inferior cerebellar artery dissection mimicking peripheral otological symptoms: illustrative case. [PDF]

J Neurosurg Case Lessons
Nemoto S, Takeda R, Jinushi Y, Ogura Y, Nakane M.   +4 more
europepmc   +1 more source

Indicators of maternal anxiety, stress, and depression and developmental outcomes in preterm children: A systematic review

Infant Mental Health Journal: Infancy and Early Childhood, Volume 47, Issue 4, July 2026.
Abstract The study was conducted in Brazil and aimed to systematically review empirical research examining the association between maternal indicators of anxiety, stress, and depression and the developmental outcomes of preterm children. A literature search was conducted across PubMed, Web of Science, PsycINFO, EMBASE, Scopus, LILACS, and SciELO ...
Bianca Basso Rustiguelli da Silva, Cláudia Maria Gaspardo   +1 more
wiley   +1 more source