Results 171 to 180 of about 585,882 (283)

Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study

Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin, Bérengère Koehl, Audrey Maudoux, Hanine Mansour, Marie‐Hélène Odievre, Nathalie Garrec, Emilie Georget, Cécile Arnaud, Slimane Allali, Lydia Doumdo, Marie Belloy, Corinne Guitton   +11 more
wiley   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2558-2561, November 2026.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Intravenous Lipopolysaccharide Challenge in Healthy Participants Reveals Pharmacodynamic Markers in Blood and Bone Marrow for Early‐Phase Oncology Drug Development

Clinical Pharmacology &Therapeutics, Volume 120, Issue 5, Page 1301-1314, November 2026.
Demonstrating pharmacological effects in early‐phase oncology clinical trials remains challenging, largely due to the lack of robust pharmacodynamic markers. Lipopolysaccharide (LPS) is used as an immune challenge agent in healthy participants to study drugs for autoimmune conditions.
Igor Radanović, Ingrid Tomljanović, Wieke H. Grievink, Diana R. Pereira, Michelle Osse, Peter van Balen, Maria J. Juachon, Marieke L. de Kam, Lisa Pagan, Manon A.A. Jansen, Matthijs Moerland, Jacobus J. Bosch   +11 more
wiley   +1 more source

Familial SCN1A-Related Epilepsy in Palestinian Siblings: Challenges of Genetic Testing in Resource-Limited Settings: A Case Report. [PDF]

Clin Case Rep
Abu Hetta A, Razem RS, Shahateet S, Pujee BK, Shawabka AM, AbuIrayyeh BM.   +5 more
europepmc   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing. [PDF]

Ann Med Surg (Lond)
Hong S, Han D, Qi M, Huang S, Ren M, Ding L, Huang X, Qiu W, Song J, Huang Y, Li X, Chen H, Wang X, Zou L, Wei Y.   +14 more
europepmc   +1 more source

Liquid Biopsy: Past, Present, and Future

MedComm, Volume 7, Issue 11, November 2026.
Liquid biopsy has expanded from cancer genotyping to a broader strategy for probing both oncologic and nononcologic conditions through circulating analytes and multilayer molecular readouts. This review traces the field's past, present, and future—summarizing where liquid biopsy is most actionable today, why performance varies across contexts, and ...
Jiachen Liu, Dianjie Zeng, Keran Zhao, Yuxi Wang, Huijie Hu, Fei Deng, Yinhuai Wang, Liya Sun, Liangmin Fu   +8 more
wiley   +1 more source

Super-refractory Status Epilepticus in Febrile Infection-Related Epilepsy Syndrome Triggered by Influenza A: A Pediatric Case Report. [PDF]

Cureus
Ocakdan M.
europepmc   +1 more source

GABAergic Network Dysregulation in Alcohol Use Disorder: Receptor–Transporter Interactions Driving the Transition From Goal‐Directed to Compulsive Behaviour

Addiction Biology, Volume 31, Issue 11, November 2026.
Astrocytic GAT3 regulates ambient GABA levels in the globus pallidus externus (GPe). Reduced GAT3 function enhances extrasynaptic GABAergic signalling and disrupts subthalamic nucleus (STN) regulation and cortical signal fidelity.ABSTRACTAlcohol use disorder (AUD) is characterized by a shift from controlled, goal‐directed drinking to compulsive ...
Hannah Aranda, Nathan Jones, Humza Haroon, Doo‐Sup Choi   +3 more
wiley   +1 more source

Mothers' home management practices during febrile seizures in children under six years of age in Jordan. [PDF]

PLoS One
Atout M, Alhsenat NM, Gharaibeh H, Tarawneh FS, Qashou A.   +4 more
europepmc   +1 more source