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Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFFamily functioning in adolescents and young adults with differences of sex development.
J Pediatr Psychol
January 2025
Department of Psychiatry & Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, United States.
Objective: Family functioning influences various psychosocial outcomes for individuals with pediatric chronic health conditions (e.g., Leeman, J.
View Article and Find Full Text PDFClassification of Fibro-osseous Tumors in the Craniofacial Bones using DNA Methylation and Copy Number Alterations.
Mod Pathol
January 2025
Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, the Netherlands; Department of Pathology, Amsterdam University Medical Center, Amsterdam, the Netherlands. Electronic address:
Fibro-osseous tumors of the craniofacial bones are a heterogeneous group of lesions comprising cemento-osseous dysplasia (COD), cemento-ossifying fibroma (COF), juvenile trabecular ossifying fibroma (JTOF), psammomatoid ossifying fibroma (PsOF), fibrous dysplasia (FD), and low-grade osteosarcoma (LGOS) with overlapping clinicopathological features. However, their clinical behavior and treatment differ significantly, underlining the need for accurate diagnosis. Molecular diagnostic markers exist for subsets of these tumors, including GNAS mutations in FD, SATB2 fusions in PsOF, mutations involving the RAS-MAPK signaling pathway in COD, and MDM2 amplification in LGOS.
View Article and Find Full Text PDFA rare case of primary testicular follicular lymphoma in a pediatric patient.
J Hematop
January 2025
Mayo Clinic, Rochester, MN, USA.
Testicular follicular lymphoma (TFL) is an exceedingly rare lymphoma that typically occurs in young male patients and is now recognized as a distinct diagnostic entity in the International Consensus Classification. TFL shows some clinicopathologic and genetic overlap with pediatric-type follicular lymphoma (PTFL). We report a case of TFL occurring in an otherwise healthy 4-year-old boy who presented with painless scrotal swelling.
View Article and Find Full Text PDFTelomere Length and Oxidative Damage in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis.
J Integr Neurosci
January 2025
Department of Child Health, Qingdao Huangdao District Central Hospital, 266555 Qingdao, Shandong, China.
Background: Autism spectrum disorder (ASD) has been reported to confer an increased risk of natural premature death. Telomere erosion caused by oxidative stress is a common consequence in age-related diseases. However, whether telomere length (TL) and oxidative indicators are significantly changed in ASD patients compared with controls remains controversial.
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