Results 131 to 140 of about 163,750 (343)

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Kaposiform hemangioendothelioma: Diagnosis and treatment

Pediatric Investigation, EarlyView.
Vascular endothelial growth factor‐C (VEGF‐C)/vascular endothelial growth factor receptor‐3 (VEGFR‐3) and angiopoietin‐2 (Ang‐2)/tyrosine kinase with immunoglobulin‐like and EGF‐like domain 2 (TIE2) signaling pathways play an important role in lymphangiogenesis.
Yi Tian, Yuanyuan Tian, Li Wei, Zigang Xu, Li Li, Lin Ma   +5 more
wiley   +1 more source

Using peri‐operative patient‐ and parent‐reported experience and outcome measures to identify paediatric postsurgical recovery trajectories: an observational cohort study

Anaesthesia, EarlyView.
Summary Introduction Identifying postoperative pain trajectories and pre‐operative risk factors may support preventative measures and enhance pain management. We aimed to determine the feasibility of gathering peri‐operative data from families of children, describe their recovery trajectories and identify risk factors for high postsurgical pain ...
Samantha Pang, Nicholas West, Haoyu Zhao, Jessica Luo, Neil K. Chadha, Lynnie R. Correll, Heng Gan, Matthias Görges   +7 more
wiley   +1 more source

Comparative study of blood biochemistry in clinically healthy farmed barramundi (Lates calcarifer) and rainbow trout (Oncorhynchus mykiss) from freshwater recirculating aquaculture systems

Australian Veterinary Journal, EarlyView.
Barramundi (Lates calcarifer) is an economically significant aquaculture species and ranks among Australia's top five farmed finfish. As global production intensifies, understanding the physiology and health of barramundi is essential to support animal welfare and industry profitability.
CY(V) Pang, N Courtman, F Samsing
wiley   +1 more source

Factors Associated With Clinical Outcomes After Lumbar Interbody Fusion With a Porous Nitinol Implant

Global Spine Journal, 2017
Study Design: A retrospective cohort study. Objective: The aim of this study is to assess the association of demographic and perioperative factors with clinical outcomes of lumbar interbody fusion with a porous nitinol (TiNi) implant for degenerative ...
Fahad H. Abduljabbar MBBS, FRCSC, Asim M. Makhdom MD, MSc, FRCSC, Mona Rajeh BDS, MSc, Alisson R. Tales MD, Jacob Mathew MBBS, Jean Ouellet MD, FRCSC, Michael Weber MD, PhD, FRCSC, Peter Jarzem MD, FRCSC   +7 more
doaj   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Spectrum of Hypogonadism and Its Management in Adolescents With Prader‐Willi Syndrome: A Retrospective Cohort Study Over 35 Years

Clinical Endocrinology, EarlyView.
ABSTRACT Context Adult data indicate that hypogonadism is underdiagnosed and undertreated in Prader‐Willi Syndrome (PWS). Objectives We aimed to describe the spectrum of pubertal development, and the diagnosis and treatment of hypogonadism in paediatric/adolescent patients with PWS. Design/Patients A retrospective cohort study of patients with PWS aged
Helen Nguyen, Geoffrey Ambler, Yoon Hi Cho   +2 more
wiley   +1 more source

Teratogenic effects of gabapentin on the skeletal system of Balb/C mice fetuses [PDF]

, 2009
Objectives: To evaluate the effects of gabapentin )GBP( administration on mice fetuses. Methods: This study was carried out in Birjand University of Medical Sciences during 2008.
Afshar, M., Golalipour, M.J., Hassanzadeh-Taheri, M.M., Moallem, S.-A., Tamizi, A.   +4 more
core  

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source