Results 191 to 200 of about 26,425 (290)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Ecology of Malaria Mortality: A Spatiotemporal Mapping Approach

American Journal of Biological Anthropology, Volume 190, Issue 2, June 2026.
ABSTRACT Objectives This study examines the spatiotemporal ecology of probable malaria mortality in 19th‐century southern Ontario to evaluate how settlement expansion, landscape transformation, and infrastructure development structured transmission risk in a temperate, settler‐colonial context.
Amanda Cooke, Megan B. Brickley
wiley   +1 more source

Proteomic Analysis of Serum and Cerebrospinal Fluid in Children with Encephalopathy Associated with Human Betaherpesvirus 6B. [PDF]

Open Forum Infect Dis
Kawamura Y, Yamaguchi H, Nishioka T, Kiribuchi M, Yun A, Miura H, Kondo Y, Itano M, Higashimoto Y, Ihira M, Kawada JI, Yoshikawa T.   +11 more
europepmc   +1 more source

Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy. [PDF]

Mol Genet Genomic Med
This study identifies two novel inherited NPRL3 splice variants in Chinese pediatric patients with focal epilepsy, revealing significant genetic heterogeneity, incomplete penetrance, and phenotypic variability that underscores the importance of tailored antiepileptic management.
Wang S, Wu J, Song C, He Y, Zhao Z, Yang B.   +5 more
europepmc   +2 more sources

Descriptive Epidemiology and Prognosis of Pediatric Acute Leukemia in the Afro‐Descendant Population of the French West Indies and French Guiana

Cancer Medicine, Volume 15, Issue 6, June 2026.
ABSTRACT Introduction The epidemiology of acute leukemia (AL) in children in Afro‐descendant (AD) populations is poorly described, and survival is often considered worse in these populations. The aim of this study is to describe the epidemiology and prognosis of childhood AL in the AD population of the French West Indies/French Guiana (FWI/FG ...
Julie Mascle, Andre Baruchel, Jacqueline Clavel, Arnaud Petit, Claire Dichamp, Benjamin Faivre, Narcisse Elenga, Frederique Delion, Florence Rabian, Estelle Thebaud, Frederic Huet, Anne Notz‐Carrere, Isabelle Pellier, Benoit Brethon, Katell Michaux, Jean‐Hugues Dalle, Arthur Felix   +16 more
wiley   +1 more source

Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature. [PDF]

Mol Genet Genomic Med
Muhammad A, Ramzan S, Yousaf H, Ghumman RZ, Ali FB, Khalily MA, Ali A, Ali W, Zia S, Khan NU, Sarwar MT, Toft M, Iqbal Z, Fatima A.   +13 more
europepmc   +1 more source

Acalabrutinib Versus Venetoclax Plus Obinutuzumab in Treatment‐Naive Chronic Lymphocytic Leukemia: A Real‐World Propensity Score‐Matched Study

Cancer Medicine, Volume 15, Issue 6, June 2026.
In a real‐world matched cohort study of treatment‐naïve TP53 wild‐type CLL patients, venetoclax plus obinutuzumab demonstrated significantly longer time to next treatment and improved 4‐year overall survival compared to first‐line acalabrutinib. Despite higher rates of cytopenias and infections, the venetoclax‐based regimen showed superior efficacy ...
Po‐Wei Liao, Bor‐Sheng Ko, Yu‐Chen Su, Wei‐Ting Chao, Chieh‐Lin Jerry Teng   +4 more
wiley   +1 more source

Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy. [PDF]

Neurol Genet
Wu F, Ji X, Cheng P, Zhao S, Feng S, Liu W, Chen J, Zhang X, Wang H, Chen Q.   +9 more
europepmc   +1 more source

New Insights Into the Role of Neutrophils in Lymphoma

Cancer Medicine, Volume 15, Issue 6, June 2026.
Tissue‐resident neutrophils challenge conventional paradigms by actively infiltrating normal lymphoid organs, predominantly localizing in interstitial compartments, a spatial distribution distinct from their classical vascular positioning. Neutrophils in lymphoid organs exhibit unique phenotypic and functional signatures, suggesting they play roles in ...
Ling Gu
wiley   +1 more source

Diagnostic utility of circulating interleukin-1 beta and microRNA-146a in differentiating febrile seizures from other pediatric conditions. [PDF]

World J Exp Med
Mohammadi S, Abbood Hameed Ati M, Seyedhosseini FS, Zare Ebrahimabad M, Saeidi M, Hosseini SA, Darweesh M, Al-Harrasi A, Yazdani Y.   +8 more
europepmc   +1 more source