Results 151 to 160 of about 116,027 (330)

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

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report

BMC Anesthesiology
Background Spinal Muscular Atrophy (SMA) is a rare autosomal recessive genetic disorder characterized by degeneration of motor neurons in the spinal cord, resulting in progressive limb muscle weakness, atrophy, and severe scoliosis.
Zhuangyuan Chen, Xiaowei Chen, Xiyun Liang, Qiang Niu, Yauwai Chan, Xuebing Xu   +5 more
doaj   +1 more source

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening

Developmental Medicine & Child Neurology, 2022
T. Dangouloff, M. Hiligsmann, N. Deconinck, A. D’Amico, A. Seferian, F. Boemer, Laurent Servais   +6 more
semanticscholar   +1 more source

Assessing Clinical Severity and Prognosis in Adolescents With Anorexia Nervosa and Atypical Anorexia Nervosa Using the Albumin‐Globulin Ratio

European Eating Disorders Review, EarlyView.
ABSTRACT Objective The albumin‐globulin ratio (AGR) is a biochemical marker reflecting nutritional and inflammatory status, with significant prognostic value in chronic conditions. This study examined its association with clinical/biochemical markers in adolescents with anorexia nervosa (AN) and atypical AN (AAN).
Eylem Şerife Kalkan, Ayşe Bilge Baklaci, Yelda Kiliç, Sinem Akgül, Nilgün Özgül, Melis Pehlivanturk Kizilkan   +5 more
wiley   +1 more source

Dexmedetomidine infusions improve cardiovascular and renal function in anaesthetised, experimentally endotoxaemic horses

Equine Veterinary Journal, EarlyView.
Abstract Background Dexmedetomidine infusions are beneficial in anaesthetised endotoxaemic horses when administered concurrent to endotoxin, but post‐conditioning effects are unknown. Objectives To evaluate whether a dexmedetomidine infusion is beneficial in horses administered Escherichia coli O55:B5 lipopolysaccharides (LPS) endotoxin prior to ...
Sera Lee, Rachel C. Hector, Lynn Pezzanite, Eric Gilleland, Marlis L. Rezende   +4 more
wiley   +1 more source

Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology

Neural Regeneration Research
Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor.
Yiyang Qin, Wenzhen Zhu, Tingting Guo, Yiran Zhang, Tingting Xing, Peng Yin, Shihua Li, Xiao-Jiang Li, Su Yang   +8 more
doaj   +1 more source

Significance of Dynamic Imaging in Diagnosis of Hirayama Disease: A Rare Case Report and Literature Review [PDF]

, 2020
Acosta, Natasha, Kandukuri, Gautham
core   +2 more sources