We describe the case of a patient who presented with sudden onset vertigo and bilateral deafness while under immune checkpoint therapy for metastatic bronchial carcinoma. Extensive audiologic assessment and vestibular function testing, as well as cranial magnetic resonance imaging (cMRI) and lumbar puncture was performed. The diagnostic workup confirmed bilateral sensorineural deafness and bilateral loss of vestibular function, while imaging revealed enhancement of the vestibulocochlear nerve.
View Article and Find Full Text PDFPurpose: This study investigates the impact of etiology on the epidemiologic profile, disease severity, type of treatment and therapy outcome in smell and taste disorders.
Methods: This is a retrospective analysis of 270 patients that presented with a smell or taste disorder in a specialized, tertiary care center. An established questionnaire was used to collect data from patients and physicians.
Curr Opin Otolaryngol Head Neck Surg
April 2023
Purpose Of Review: This review summarizes practical recommendations for screening, work-up, and management of hereditary head and neck paragangliomas based on the growing molecular and empirical understanding of this disease.
Recent Findings: The proportion of hereditary cases among head and neck paragangliomas is significant (∼33 to 50%), and specific genetic alterations may increase the risk of malignancy. Genotyping should be performed for each case, and patients carrying a pathological mutation should be regularly screened for new tumors.
Background This article investigates the inheritance, penetrance, clinical presentation, and therapeutic outcomes of hereditary head and neck paragangliomas (HNPGLs) by offering a four-generational report of an 18-member family affected by this rare condition. Methodology Information was compiled by examination of patients and a review of medical records and correspondence (retrospective case series). Results Six members of the 18-member family were diagnosed with HNPGL between 2002 and 2018.
View Article and Find Full Text PDFThe therapeutic potential of induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) is limited by immature functional features including low impulse propagation and reduced cell excitability. Key players regulating electrical activity are voltage-gated Na channels (Na1.5) and gap junctions built from connexin-43 (Cx43).
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