Results 111 to 120 of about 9,483 (241)
ABSTRACT Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune, demyelinating disorder of the central nervous system. Clinical manifestations include optic neuritis, longitudinally extensive transverse myelitis (LETM) involving three or more vertebral segments, and, in most cases, seropositivity for anti‐aquaporin‐4 antibodies (AQP4‐IgG).
Nikolina Pravdic +7 more
wiley +1 more source
Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy. [PDF]
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 +5 more
europepmc +2 more sources
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
ABSTRACT Optimal cephalexin and cefadroxil dosing for skin and soft tissue infections (SSTIs) is unclear. We summarize clinical and pharmacokinetic/pharmacodynamic (PK/PD) data that compare dosing strategies for SSTIs. Additionally, we conduct population PK target attainment simulations for varying doses of cephalexin and cefadroxil for Staphylococcus ...
Jonathan H. Ryder +6 more
wiley +1 more source
Improved Detection and Sequencing of Rickettsia spp. DNA in South African Wildlife
Nested gltA PCR detected Rickettsia spp. DNA in 44% of South African wildlife samples previously negative by RLB, revealing spotted fever, typhus and transitional group lineages, novel host records, co‐infection and multi‐organ dissemination in impala, highlighting complex wildlife involvement and zoonotic risk within a One Health framework.
Carlo Andrea Cossu +5 more
wiley +1 more source
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith +15 more
wiley +1 more source
ABSTRACT Relapsed and refractory multiple myeloma (RRMM) remains associated with poor outcomes, particularly in patients exposed or refractory to proteasome inhibitors, immunomodulatory agents, and anti‐CD38 monoclonal antibodies. Targeting B‐cell maturation antigen (BCMA) has emerged as an effective therapeutic strategy, prompting the development of ...
Maria Eugenia Alvaro +12 more
wiley +1 more source
Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple +30 more
wiley +1 more source
Pediatric Encephalopathy and Complex Febrile Seizures: A Retrospective Analysis
Background: Complex Febrile Seizures (CFS) continues longer, start in one place, or occurs more than once in 24 hours. Convulsions can cause paediatric encephalopathy, a serious neurological condition. Encephalopathy prevalence in children with CFS and its long-term effects remain unknown, even if clinically relevant.
Pooja Mishra, Anshuman, Jayant Prakash
openaire +2 more sources
Abstract Introduction Acute care paediatric teams face ambiguous, dynamic patient care situations that demand adaptability to avoid patient harm. Team huddles and adaptation processes have shown promise in mitigating risk and reducing harm. One team process that may occur in huddles is team reflection (TR), defined as a team's capacity to consciously ...
Rustin Meister +4 more
wiley +1 more source

