Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms
M. Liberman, S. Kujawa
semanticscholar +1 more source
Abstract Objectives To investigate the birth prevalence, clinical manifestations, and management of congenital cytomegalovirus (CMV) infections in Australia, 1999–2023. Study design Longitudinal observational study; analysis of prospectively collected Australian Paediatric Surveillance Unit (APSU) data. Setting, participants Australia, 1 January 1999 –
Ece Egilmezer+7 more
wiley +1 more source
Role of Lung Function, Chronic Obstructive Pulmonary Disease on Hearing Impairment: Evidence for Causal Effects and Clinical Implications. [PDF]
Yuan L+6 more
europepmc +1 more source
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz+3 more
wiley +1 more source
Association Between Gastroesophageal Reflux Disease, Barrett's Esophagus and Ear Disorders: A Mendelian Randomization Study. [PDF]
Zhao W+7 more
europepmc +1 more source
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun+2 more
wiley +1 more source
Lermoyez Syndrome: A Systematic Review and Narrative Synthesis of Reported Cases. [PDF]
Sideris G, Katsis L, Karle S, Korres G.
europepmc +1 more source
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders+11 more
wiley +1 more source
Analysis of the clinical value of triiodothyronine levels in sudden sensorineural hearing loss: A retrospective observational study. [PDF]
Dai D+5 more
europepmc +1 more source
Main Points OECs, SCs, and Mel derive from SCPs. Sox10Cre;YapHet;TazKO mice show impaired SC maturation, reduced Mel formation, fewer SCPs, OECs, and olfactory neurons, but normal GnRH‐1 neuron migration. ABSTRACT Olfactory Ensheathing Cells (OECs) are glial cells originating from the neural crest and are critical for bundling olfactory axons to the ...
Ed Zandro M. Taroc+7 more
wiley +1 more source