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| http://dx.doi.org/10.1038/bjc.2013.68 | DOI Listing |
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Duane Retraction Syndrome: A Report of Two Cases and Review of Literature.
Cureus
November 2024
Department of Ophthalmology, College of Medicine, University of Bisha, Bisha, SAU.
Stilling-Duane syndrome, a congenital condition characterized by aberrant innervation of the lateral rectus muscle and agenesis of the abducent nerve or its nucleus, results in limited horizontal eye movements. It is often misdiagnosed as acquired abducent nerve paralysis. This report highlights the importance of considering Stilling-Duane syndrome in differential diagnoses.
View Article and Find Full Text PDFEvaluation of auditory pathways and comorbid inner ear malformations in pediatric patients with Duane retraction syndrome.
Int J Pediatr Otorhinolaryngol
December 2024
Hacettepe University, Faculty of Medicine, Department of Opthalmology, Ankara, Turkey.
Aims And Objectives: This study aimed to investigate the presence, type, and severity of hearing losses in individuals with Duane Retraction Syndrome (DRS), and to ascertain if there are anomalies in the auditory pathways at the brainstem level in DRS, believed to arise from aberrant interaction between cranial nerves and brainstem nuclei.
Study Design: Cross-sectional observational study.
Setting: Tertiary referral centre.
The ataxia-telangiectasia disease protein ATM controls vesicular protein secretion via CHGA and microtubule dynamics via CRMP5.
Neurobiol Dis
December 2024
Goethe University Frankfurt, University Hospital, Clinic of Neurology, Exp. Neurology, Heinrich Hoffmann Str. 7, 60590 Frankfurt am Main, Germany. Electronic address:
The autosomal recessive disease ataxia-telangiectasia (A-T) presents with cerebellar degeneration, immunodeficiency, radiosensitivity, capillary dilatations, and pulmonary infections. Most symptoms outside the nervous system can be explained by failures of the disease protein ATM as a Ser/Thr-kinase to coordinate DNA damage repair. However, ATM in adult neurons has cytoplasmic localization and vesicle association, where its roles remain unclear.
View Article and Find Full Text PDFRare Case of Post-Traumatic Abducens-Oculomotor Nerve Synkinesis Exhibiting Unusual Ocular Motility.
Am J Case Rep
October 2024
Department of Ophthalmology, College of Medicine, Qassim University, Buraydah, Saudi Arabia.
Article Synopsis
- Acquired synkinesis happens when nerves that control eye movements get messed up after an injury, causing strange eye movements.
- This report tells the story of a 21-year-old man who had a severe car accident, leading to unusual eye movement problems.
- Doctors found that the 6th and 3rd cranial nerves were connected in a weird way, which is really rare, and this happened because of the nerve damage from the accident.
Long-term remission of Hailey-Hailey disease by Er:YAG ablative laser therapy.
J Eur Acad Dermatol Venereol
October 2024
Department of Dermatology, Centre of Expertise for Genodermatoses, Maastricht University Medical Centre+, Maastricht, The Netherlands.
Background: Hailey-Hailey disease (HHD) is a rare genetic therapy-resistant blistering disease with great disease burden. Treatment is currently focused on symptomatic relief. Er:YAG ablative laser therapy is a therapeutic modality with promising results, though evidence is currently scarce.
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