Results 161 to 170 of about 74,421 (224)

Jacob's Syndrome and Hearing Loss: A Case Study

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
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

open access: yesPakistan 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   +3 more
doaj  

When Rarity Hits Twice: Hemophagocytic Lymphohistiocytosis in Kabuki Syndrome—A Case Report From Palestine

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
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

Ciliary Defects in Inherited Retinal Diseases

open access: yesAdvanced Genetics, Volume 7, Issue 1, March 2026.
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]

open access: yesAnn Hematol
Mamlekar H   +9 more
europepmc   +1 more source

Cytomegalovirus Infection Mimics Manifestations of Underlying Diseases in Patients With Autoimmune Disorders: A Case Report and Literature Review

open access: yesImmunity, Inflammation and Disease, Volume 14, Issue 3, March 2026.
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

Clinical Images: The radiographic life cycle of pulmonary granulomatosis with polyangiitis: from solid nodule to cavitary collapse

open access: yes
ACR Open Rheumatology, Volume 8, Issue 3, March 2026.
Xiaohui Zhang   +3 more
wiley   +1 more source

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