Results 41 to 50 of about 23,088 (236)

A Rare Case of Orbital Apex Syndrome in Herpes Zoster Ophthalmicus [PDF]

Journal of Clinical and Diagnostic Research, 2016
Orbital Apex Syndrome (OAS) is a rare complication of Herpes Zoster Ophthalmicus (HZO). We are reporting a case of 65-yearold male who developed OAS following HZO.
CHARUDUTT KALAMKAR, NISHANT RADKE, AMRITA MUKHERJEE, SNEHAL RADKE   +3 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Bilateral Ophthalmoplegia After Neoadjuvant Pembrolizumab for Oral Cavity Squamous Cell Carcinoma

The Laryngoscope, EarlyView.
The role of immune checkpoint inhibition (ICI) therapy in the treatment of head and neck squamous cell carcinoma (HNSCC) is expanding with increased utilization of neoadjuvant and adjuvant pembrolizumab in the setting of locally advanced disease. This report describes the presentation and management of the first known case of pembrolizumab‐induced ...
Leonard E. Estephan, Peter Jacoby, David M. Cognetti, Steven A. Manobianco   +3 more
wiley   +1 more source

Mind the Gap: Predictors of Osteoporosis Treatment Following Fragility Fracture in Parkinsonism

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fracture risk is increased in Parkinson's yet this risk is often not addressed. Objectives Our objective was to study the extent to which osteoporosis was treated, and predictors of treatment in a large representative cohort with parkinsonism.
Katie C. Naylor, Emily J. Henderson, Emma Tenison   +2 more
wiley   +1 more source

Painful ophthalmoplegia

, 2014
Painful ophthalmoplegia refers to a multiple cranial nerve syndrome involving oculomotor, trochlear, abducens, and ophthalmic division of the trigeminal nerve.
Vivek Guleria, Daya Jha, Velu Nair, Salil Gupta   +3 more
core   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Unilateral Facial Paralysis and Ophthalmoplegia Caused by Lower Lip Carcinoma: A Case Report

, 2021
We discuss a case of lower lip carcinoma which presented with atypical symptoms; facial paralysis, conductive type hearing loss, and ophthalmoplegia. Due to an earlier resection, no mass was evident on the primary examination. Diagnostic imaging revealed
Günay Bulut, Elif, Bajin, Münir Demir, Katar, Oğuzhan, Elif Günay Bulut, Münir Demir Bajin, Sennaroğlu, Levent, Bulut, Elif Günay, Oğuzhan Katar, Demir Bajin, Münir, Levent Sennaroğlu   +9 more
core   +1 more source