Results 191 to 200 of about 40,963 (257)

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 511-517, February 2026.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4. [PDF]

BMJ Case Rep
Gowda VK, Varghese A, Kinhal UV, Srinivasan VM, Nayyer A.   +4 more
europepmc   +1 more source

Prediction of neutrophil nadir and recovery following paediatric haematopoietic cell transplantation with busulfan conditioning

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 568-578, February 2026.
Aims In haematopoietic cell transplantation (HCT), neutropenia resulting from myelosuppression is an expected endpoint following busulfan‐based conditioning. However, if prolonged, neutropenia can lead to complications like serious infection and death.
Beth Apsel Winger, Joseph W. Polli, Janel Long‐Boyle, Andrew Weber, Jordan Brooks, Jaimit Parikh, Valeriu Damian   +6 more
wiley   +1 more source

Epilepsy in Wolf-Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature. [PDF]

J Clin Med
Blanco-Lago R, Málaga I, Tenorio-Castaño JA, Álvarez-Álvarez N, Lapunzina P, Nevado J.   +5 more
europepmc   +1 more source

Virtual healthcare compared to hospital care for acute and post‐acute illness in adults: A systematic review and meta‐analysis of randomized controlled trials

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 374-395, February 2026.
Aim To evaluate the clinical effectiveness, cost‐effectiveness, quality of life (QoL) and patient/caregiver satisfaction associated with VWs/HaH vs. traditional inpatient care in adults with acute or post‐acute illness. Methods We conducted a systematic review and meta‐analysis of randomized controlled trials (RCTs), following PRISMA 2020 guidelines ...
Rana A. Malhis, Stuart E. Bond, Ahmed A. Sadeq, Rani Shatnawi, Barbara R. Conway, Syed Shahzad Hasan, Mamoon A. Aldeyab   +6 more
wiley   +1 more source

Optimizing fever management in pediatric emergency medicine: pathophysiology, diagnostics, and evidence-based strategies. [PDF]

Int J Emerg Med
Alsabri M, Onyejesi CD, Patel A, Elewa M, Abady EM, Mohunsing R, Okolie CJ, Zehra SA, Lusinski E.   +8 more
europepmc   +1 more source

High frequency deep brain stimulation of the hippocampus in a rat model for temporal lobe epilepsy [PDF]

, 2006
Boon, Paul, CLAEYS, P, De Smedt, Tim, Leybaert, Luc, Mabilde, Cyriel, Raedt, Robrecht, Van den broecke, Caroline, Wadman, Wytse, Waterschoot, Liesbeth, Wyckhuys, Tine   +9 more
core   +1 more source

A Case of Drug‐Induced Pancreatitis

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Drug‐induced pancreatitis (DIP) is a rare but important cause of acute abdominal pain, and ciprofloxacin‐associated cases are exceptionally uncommon. We report a 35‐year‐old woman with no significant medical history who developed severe epigastric pain radiating to the back, accompanied by nausea and vomiting, 3 days after initiating self ...
Muskan Shrestha, Pratick Shrestha, Adarsha Mahaseth, Abhishek Shrestha, Prabin Duwadee, Rajat K. Shah   +5 more
wiley   +1 more source

Case Report: Successful multimodal management of FIRES in a pediatric patient using anakinra, ketogenic diet, and induced hypothermia. [PDF]

Front Pediatr
Caporale M, Lais G, Gulli' A, Caporale C, Piastra M, Conti G.   +5 more
europepmc   +1 more source

Toward Dual‐Function Nanoparticle Platforms for Arboviral Diagnostics and Vaccines: Advances, Challenges, and Future Prospects

Nano Select, Volume 7, Issue 2, February 2026.
This review explores nanoparticle (NP)‐based biosensors and nanovaccine platforms for arboviral infections, highlighting their design, performance, and translational potential. By comparing case studies across viruses, it identifies gold‐standard nanomaterials such as gold NPs (AuNPs), zinc oxide NPs (ZnONPs), molybdenum disulfide (MoS2) nanocomposites,
Peyman Halvaeikhanekahdani, Sajad Zandi, Qadeer Ahmad, Hadiseh Payravand   +3 more
wiley   +1 more source