Results 101 to 110 of about 18,365 (193)

Histiocytosis development and clinical variation through the lens of genomics

The Journal of Pathology, Volume 270, Issue 1, Page 23-39, September 2026.
Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps, Astrid GS van Halteren, Tom van Wezel, Pancras CW Hogendoorn   +3 more
wiley   +1 more source

From Survival to Recovery: 25 Years of Paediatric Critical Care Transformation in Israel

Acta Paediatrica, Volume 115, Issue 9, Page 1899-1909, September 2026.
ABSTRACT Aim To evaluate 25‐year national trends in paediatric intensive care utilisation, patient outcomes, rehospitalisations and regional resource distribution in Israel. Methods Retrospective, population‐based cohort study of all paediatric (0–17 years) ICU hospitalisations in Israel between 1999 and 2023.
Yael Applbaum, Shulamit Gordon, Isaac Manaster, Ziona Haklai, Joseph Mendlovic, Adi Avniel Aran, Uri Pollak   +6 more
wiley   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 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

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1856-1861, August 2026.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

TET2 as a Context‐Dependent Epigenetic Integrator in Clonal Hematopoiesis, Inflammation, Cancer, and Immunotherapy

Cell Biochemistry and Function, Volume 44, Issue 8, August 2026.
ABSTRACT Ten‐Eleven Translocation 2 (TET2) is an Fe(II)‐ and α‐ketoglutarate‐dependent dioxygenase that initiates active DNA demethylation by oxidizing 5‐methylcytosine (5mC). Beyond this enzymatic role, TET2 links DNA methylation dynamics with chromatin regulation, cellular metabolism, immune‐cell identity, and treatment response in a context ...
XiaoJie Liu, Jiangchen Liu, Liu Feng, Dan Xu, Xianling Wei, Dekuai Tong   +5 more
wiley   +1 more source

Clinical and Radiological Features Suggestive of Mucopolysaccharidosis in Two Siblings From Sudan: A Case Series

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Mucopolysaccharidosis should be suspected in patients presenting with multisystem involvement, including coarse facial features, skeletal abnormalities, and progressive organ dysfunction, particularly in resource‐limited settings where delayed diagnosis is common.
Alaa Bella, Mumen Abdalazim Dafallah, Ashraf Yousif Fadlalla, Bothaina Faisal Elmardi, Yomna Mohialdin Alataya, Abdalla Abdelmahmoud Abdalla, Mohammed Almeldin Ahmed Ibrahim, Mawada Faisal Nugud, Salah Elamin Ahmed Babiker, Hiba faroug Al_amin, Safaa Ayoub Yousif Mohammed, Moawia Elbalal Mohammed   +11 more
wiley   +1 more source

Multisystem inflammatory syndrome in children in South Africa [PDF]

The Lancet Child & Adolescent Health, 2020
Webb, Kate, Abraham, Deepthi Raju, Faleye, Ayodele, McCulloch, Mignon, Rabie, Helena, Scott, Christiaan   +5 more
openaire   +2 more sources

Reactivation of a Bacillus Calmette–Guérin Scar Following Routine Infant Vaccination

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT A 4‐month‐old infant developed erythema and induration at a Bacillus Calmette–Guérin (BCG) scar shortly after routine DTaP‐IPV‐Hib and pneumococcal vaccination. Laboratory findings were normal, and the lesion resolved spontaneously without treatment.
Fatih Demircioğlu, Ayşe Sena Demircioğlu   +1 more
wiley   +1 more source

Mental health multimorbidity and physical conditions in children aged 6–17 years in the United States

General Psychiatry, Volume 39, Issue 4, August 2026.
ABSTRACT Background The rising prevalence and early onset of mental health problems among children and adolescents pose a critical public health challenge. Aims This study aimed to identify distinct profiles of mental health multimorbidity, examine their associations with physical conditions and evaluate the dose–response relationships between the ...
Hua He, Feng Li, Guodong Ding, Fei Li
wiley   +1 more source