Results 141 to 150 of about 149,294 (247)

Hyperglycemic Hyperosmolar Syndrome With Higher Brain Dysfunction in Which Arterial Spin Labeling Revealed Abnormal Cerebral Blood Flow: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Treatment for hyperglycemic hyperosmolar syndrome (HHS) was initiated for a transferred unconscious patient. Aphasia and agnosia remained even after metabolic improvement. Arterial spin labeling (ASL) indicated increased blood flow in the left temporal and parietal lobes.
Go Yoshimichi
wiley   +1 more source

Development and validation of a machine learning model to predict prognostic outcomes in infantile epileptic spasms syndrome. [PDF]

Front Pediatr
Zuo C, Xue B, Mu X, Cao Z, Zhou H, Liu Z, Sun D.   +6 more
europepmc   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Clinical application of HMGB1-TLR4 signaling pathway-mediated neuroinflammatory markers in infantile epileptic spasms syndrome. [PDF]

Front Immunol
Chen H, Zhong J, Chen Y, Wu H, Wang R, Yi Z, Zeng X.   +6 more
europepmc   +1 more source

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Gut microbiota dynamics and its impact on the efficacy of ACTH therapy in infantile epileptic spasms syndrome. [PDF]

Front Neurol
Zhang X, Hu X, Hao X, Zhang H, Tao Z, Liang J.   +5 more
europepmc   +1 more source

Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management

MedComm, Volume 7, Issue 7, July 2026.
Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu, Xinyan Wu, Ting Yin, Feining Huang, Manqi Kong, Yu Yang, Zinan Liu, Jiabin Yu, Tianpeng Zhang   +8 more
wiley   +1 more source

Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea. [PDF]

Clin Exp Pediatr
Choi SA, Kim M, Kim HJ, Kim WJ, Lim BC, Han JY, Kim H, Kim MJ, Yum MS, Lee J, Lee J, Woo H, Kim JS.   +12 more
europepmc   +1 more source

The Rhythmic and the Metronomic: On Charlie Chaplin's Gait

Critical Quarterly, EarlyView.
Matthew Beaumont
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum of MED13L‐Associated Neurodevelopmental Disorder: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Here we report a novel de novo duplication of exons 8–16 of the MED13L gene in a patient with MED13L syndrome, presenting with an unreported phenotype: cleft lip. A review of previously reported patients with MED13L copy number variants is also conducted to refine genotype–phenotype correlations.
Zhongqing Wang, Xin Chen, Ziyun Cui, Xinyue Qi, Li Gu, Yi Liu, Wenjing Zhao, Yan Jiang   +7 more
wiley   +1 more source