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Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFMastication and electrical activation in the masseter and anterior temporalis muscles of children and adolescents with osteogenesis imperfecta.
Codas
January 2025
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre - HCPA - Porto Alegre (RS), Brasil.
Purpose: to characterize mastication and electrical activation of the masseter and anterior temporalis muscles in children and adolescents with osteogenesis imperfecta (OI), and relate results to guided occlusion and occlusal interference.
Methods: This observational, analytical cross-sectional study included 22 subjects divided into mild OI (MOI) (type 1) (n=15) and moderate-to-severe OI (MSOI) (types 3, 4, and 5) (n=7) groups. The Orofacial Myofunctional Evaluation with Scores (OMES) form was used to evaluate the clinical aspects of mastication.
Versatile hydrogels prepared by microfluidics technology for bone tissue engineering applications.
J Mater Chem B
January 2025
State Key Laboratory of Oral Disease & National Center for Stomatology & National Clinical Center for Oral Diseases & Department of Operative Dentistry and Endodontics, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China.
Bone defects are a prevalent issue resulting from various factors, such as trauma, degenerative diseases, congenital disabilities, and the surgical removal of tumors. Current methods for bone regeneration have limitations. In this context, the fusion of tissue engineering and microfluidics has emerged as a promising strategy in the field of bone regeneration.
View Article and Find Full Text PDFCentral congenital hypothyroidism due to TSHB gene mutation: 25-year follow-up.
BMJ Case Rep
January 2025
Endocrinology Department, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
TSHB gene mutation results in isolated central congenital hypothyroidism (iCCH). Often diagnosed late, mild neurocognitive impairment is common despite thyroxine initiation. We discuss a female term neonatal presenting with prolonged unconjugated hyperbilirubinaemia.
View Article and Find Full Text PDFLong-Term Outcomes of Regional Morphology in Spring-Assisted Surgery and Cranial Vault Remodeling.
Plast Reconstr Surg
February 2025
From the Departments of Plastic and Reconstructive Surgery.
Background: Spring-assisted surgery (SAS) and cranial vault remodeling (CVR) are widely used surgical techniques to correct sagittal craniosynostosis (SC). The authors evaluated changes in regional morphology of patients with SC who had undergone SAS or CVR, using the frontal bossing index (FBI), occipital bulleting index, vertex narrowing index (VNI), and scaphocephalic severity index (SCI) to capture differences in anterior protrusion, posterior protrusion, width restriction, and global dysmorphology, respectively.
Methods: Indices were measured on computed tomography and 3-dimensional photographs (n = 788) of 257 patients with SC from 2001 through 2022 who underwent SAS (n = 177) or CVR (n = 80).
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