Results 101 to 110 of about 44,988 (225)

High‐Protein Diet Ameliorates Cardiomyopathy in a Cardiac‐Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Glycogen storage disease type IIIa (GSDIIIa) causes progressive cardiomyopathy, and current high‐fat dietary strategies lack consensus regarding long‐term cardiovascular safety. We evaluated the efficacy and safety of high‐protein versus high‐fat diets in a novel cardiac‐specific AGL knockout (CKO; AGLflox/flox/MHC‐Cre) mouse model to ...
Caiqi Du, Hao Fu, Tingting Yu, Sisi Cao, Haotian Zhang, Boda Wei, Cai Zhang, Juan Ye, Wenjun Long, Xiaoping Luo, Yan Liang   +10 more
wiley   +1 more source

Pharmacological activation of NO‐cGMP signalling attenuates metabolic dysfunction‐associated steatohepatitis

British Journal of Pharmacology, Volume 183, Issue 18, Page 5476-5495, September 2026.
Background and Purpose Metabolic dysfunction‐associated steatohepatitis (MASH) is linked to activation of hepatic stellate cells (HSCs) to α‐smooth muscle actin–positive myofibroblasts that produce collagen and proinflammatory cytokines. Quiescent HSCs express the NO‐cGMP signalling axis.
Krithika Rajeeth, Malte Roessing, Moritz Lehners, Lisa Dietz, Anja Schmitt, Stephan Hailfinger, Andreas Peter, Leticia Quintanilla‐Martinez, Irene Gonzalez‐Menendez, Ingmar Mederacke, German Ott, Peter Sandner, Matthias Schwab, Robert Feil, Susanne Feil   +14 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1850-1855, August 2026.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1807-1813, August 2026.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

What's Your Diagnosis? Large Mediastinal Mass in a Dog

Veterinary Clinical Pathology, EarlyView.
Rosane O. Cruz, Talles M. Almeida, Iris D. S. Menezes, Ludmila R. Moroz, Suane N. Boaventura, Tiago Peixoto, Stella F. Valle, Nicole Hlavac   +7 more
wiley   +1 more source

Comparison of Thrombocytopenia and Splenomegaly in Locally Advanced Rectal Cancer Patients Receiving Total Neoadjuvant Therapy With and Without Immunotherapy

Cancer Medicine, Volume 15, Issue 8, August 2026.
ABSTRACT Background Thrombocytopenia is a common toxicity of oxaliplatin‐based chemotherapy and may be linked to hepatic sinusoidal obstruction and splenic enlargement. In the TORCH trial, adding PD‐1 blockade to an oxaliplatin‐containing total neoadjuvant therapy (TNT) regimen improved tumor response in patients with locally advanced rectal cancer ...
Shuwen Li, Mingxu Yan, Qiong Ma, Yiqun Sun, Zhen Zhang, Lijun Shen, Juefeng Wan, Hui Zhang, Ruiyan Wu, Fan Xia, Yaqi Wang   +10 more
wiley   +1 more source

Hemihepatectomia derecha en un hemangioma gigante: presentación de caso Right hemi-hepatectomy for a giant hemangioma:: presentation of a case

Revista Médica Electrónica, 2011
El hemangioma hepático es el tumor benigno más frecuente del hígado, y su diagnóstico casi siempre es incidental por ecosonograma abdominal. Generalmente son asintomáticos excepto si son gigantes, que los síntomas serían por el efecto de masa.
Roxana Ávalos García, José Jorge Rodríguez Carvajal, Cristina Ruesca Domínguez, Carlos Manuel Ramos Pachón   +3 more
doaj  

Disulfiram‐Induced Hepatotoxicity in a Patient With Alcohol Use Disorder: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Disulfiram can cause severe and potentially fatal hepatotoxicity, particularly in patients with preexisting liver disease. In Bhutan, where alcohol‐related liver disease represents a major public health burden and pharmacological options for relapse prevention remain limited, careful patient selection, hepatic assessment, and early monitoring ...
Sonam Wangchuk, Bikram Chhetri, Jiann Lin Loo   +2 more
wiley   +1 more source