Results 161 to 170 of about 74,421 (224)
Jacob's Syndrome and Hearing Loss: A Case Study
Bilateral mild‐to‐moderate hearing loss identified in a child with Jacob’s syndrome (47,XYY). This case highlights the importance of early audiological assessment in children with chromosomal abnormalities to facilitate timely intervention and optimize developmental outcomes.
Houra Bagheri +3 more
wiley +1 more source
Large Vestibular Aqueduct Syndrome Causing Progressive Hearing Loss in Childhood Article
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 +3 more
doaj
Severe and profound hearing loss in patients with multiple sensory impairments: increased incidence of cognitive impairment. [PDF]
Lucas JC +5 more
europepmc +1 more source
ABSTRACT Clinicians should maintain a high index of suspicion for Hemophagocytic Lymphohistiocytosis in Kabuki syndrome patients who present with persistent fever, cytopenias, and organomegaly. Prompt diagnosis and multidisciplinary management are essential to improve outcomes in this rare but potentially fatal complication.
Lilyan Jarrar +7 more
wiley +1 more source
Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss. [PDF]
Zeng L +8 more
europepmc +1 more source
Ciliary Defects in Inherited Retinal Diseases
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley +1 more source
Audiological profile for assessment of sensorineural hearing loss in treatment naïve chronic myeloid leukemia: impact of early TKI treatment on reversibility. [PDF]
Mamlekar H +9 more
europepmc +1 more source
Autoimmune disorder patients are vulnerable to cytomegalovirus (CMV) infections, which can present with symptoms that mimic flare‐ups of the underlying disease. We present two cases: a 44‐year‐old woman with systemic lupus erythematosus and a 55‐year‐old man with sarcoidosis, both of whom developed unusual manifestations linked to CMV infection ...
Elaheh Karimi +5 more
wiley +1 more source
Neurobrucellosis: An Uncommon but Important Cause of Sensorineural Hearing Loss: a case report. [PDF]
Messaoudi K, Yacine Mohamed Cherif W.
europepmc +1 more source

