Results 31 to 40 of about 1,037 (94)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Integrating yoga into anatomy and clinical medicine education: A holistic approach to learning

Anatomical Sciences Education, EarlyView.
Abstract Anatomical knowledge is fundamental for success in clinical settings. Unfortunately, anatomy education within professional health programs has experienced a continual decrease in contact hours and curricular content over the previous two decades, leading to deficits and potential gaps in anatomical science knowledge.
Dana Rohde, Madeleine E. Norris, Jennifer R. Kinder, Barbie Klein, Derek Harmon   +4 more
wiley   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +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

Ocular facial myositis and sialadenitis presenting with new onset ulcerative colitis

JPGN Reports, EarlyView.
Abstract Extra‐intestinal manifestations of inflammatory bowel disease (IBD) can involve most organ systems, although the immunologic underpinnings are not well understood. Most patients who present with an extra‐intestinal manifestation have a single site of extra‐intestinal involvement; however, a small cohort presents with multiple different sites ...
Nicole Du, Nicole Mendez, Anil Darbari
wiley   +1 more source

The Natural History of Residual and Recurrent Disease in Advanced Juvenile Nasopharyngeal Angiofibroma: A Systematic Review

The Laryngoscope, EarlyView.
Residual and recurrent disease in advanced juvenile nasopharyngeal angiofibromas (JNAs) demonstrate spontaneous involution, reduction in size, or long‐term stability following initial treatment in 95% of patients. In this systematic review of 131 patients with advanced JNA, only 2% of patients demonstrated disease progression during surveillance, but ...
Shivani Angelique Kumar, Peter Petocz, Raewyn G. Campbell   +2 more
wiley   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 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

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

Bilateral internuclear ophthalmoplegia and clivus fracture following head injury: case report

Arquivos de Neuro-Psiquiatria, 2002
Internuclear ophthalmoplegia is a remarkable finding, particularly in patients victims of head injury. The medial longitudinal fasciculus, which is believed to be lesioned in cases of internuclear ophthalmoplegia, has an unique brain stem position and ...
Bonilha Leonardo, Fernandes Yvens Barbosa, Mattos João Paulo de Vasconcelos, Borges Wilson Adriano Abraão, Borges Guilherme   +4 more
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