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Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.
Cleft Palate Craniofac J
January 2025
College of Dentistry and Dental Clinics, University of Iowa, Iowa City, IA, USA.
Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.
Design: We generated whole-genome sequencing data for the proband, affected father, and unaffected paternal grandmother followed by Sanger sequencing on 23 family members for the top candidate gene mutations.
Effectiveness of ClariFix (Cryoablation) of the Posterior Nasal Nerve on Nasal Symptoms in Patients With Chronic Rhinitis: A Systematic Review and Meta-Analysis.
J Rhinol
July 2024
Department of Otolaryngology-Head and Neck Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Background And Objectives: The present study evaluated the efficacy of cryoablation of the posterior nasal nerve in alleviating symptoms associated with chronic rhinitis.
Methods: A systematic review of pertinent literature sourced from PubMed, Scopus, Embase, Web of Science, and Cochrane databases was conducted through May 2024. The analysis focused on studies that appraised changes in quality of life and rhinitis-associated symptomatology before and after cryoablation treatment.
Angioinvasive Rhino-Orbital-Cerebral Mucormycosis in a Patient with Type 2 Diabetes Mellitus: A Complex and Lethal Cause of Stroke.
Diagnostics (Basel)
October 2024
Department of Neurology and Stroke, University Hospital Tübingen, Eberhard Karls University Tübingen, 72076 Tübingen, Germany.
Article Synopsis
- Rhino-orbital-cerebral mucormycosis is a severe fungal infection primarily affecting immunocompromised individuals, known for its ability to invade blood vessels and cause tissue death.
- A case study discusses a 59-year-old man with poorly controlled diabetes who presented with neurological symptoms that were initially misdiagnosed and worsened with corticosteroid treatment, leading to a rapid decline in his condition.
- The case emphasizes the urgent need for early diagnosis and treatment of mucormycosis to prevent severe complications and highlights the dangers of using corticosteroids without identifying underlying fungal infections.
Pathobiology of the crystalline lens in Stickler syndrome.
Prog Retin Eye Res
November 2024
Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Forvie Site, Robinson Way, Cambridge, CB2 0PY, United Kingdom.
Purpose: The Stickler syndromes are a group of connective tissue disorders characterised by congenital myopia, giant retinal tear and retinal detachment, cleft palate, hearing loss and premature arthropathy. Patients with Stickler syndrome are also susceptible to abnormalities of the crystalline lens. Since neither type II or type XI collagen (those typically affected in the vast majority of Stickler patients) are highly expressed in the lens, this observational cohort study explores potential alternative mechanisms to explain why patients frequently exhibit such unusual but characteristic types of cataract.
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