Results 191 to 200 of about 6,542,588 (257)
Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +1 more source
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background Molecular testing for genetic movement disorders (MDs) increasingly relies on exome‐ or genome‐based virtual gene panels. In the absence of consensus guidelines, MD panel design remains heterogeneous across laboratories, with international variation in panel configuration and gene content.
Teodora Barbarii +8 more
wiley +1 more source
The FGF/FGFR System in the Biology and Therapeutic Landscape of Pediatric CNS Tumors
Medicinal Research Reviews, EarlyView.ABSTRACT Central nervous system (CNS) tumors are the most common solid malignancies in children, comprising a highly heterogeneous group of neoplasms defined by distinct molecular alterations and clinical behaviors. Advances in molecular genetics have underscored the relevance of specific signaling pathways in driving pediatric tumorigenesis, among ...
Serena Filiberti +6 more
wiley +1 more source
Clinical Management and Outcomes of Neonatal Rhinitis Nasal Obstruction: A Scoping Review
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective Neonatal rhinitis represents an underdiagnosed yet potentially serious condition in newborns. Standardized diagnostic and treatment protocols remain lacking. The objective is to review the current literature on the etiology, diagnosis, and management of neonatal rhinitis in infants ≤8 months of age.
Anthony Victor, Mathieu Bergeron
wiley +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant +6 more
wiley +1 more source
Pediatric Discovery, EarlyView.Utilizing network toxicology, molecular docking, and dynamic simulations to investigate the potential reproductive toxicity of bisphenol S (BPS). ABSTRACT The aim of this study was to investigate the potential reproductive toxicity of bisphenol S (BPS) and the related molecular mechanisms through a network toxicology approach.
Siyuan Wang +7 more
wiley +1 more source