Oogenesis of four cases of 47,XX,+21 at gestational ages of 19 and 20 weeks was studied using pachytene cytogenetic methods. We found a variable pattern of pairing behavior of the 21 chromosomes among the cases, which included partially synapsed trivalents, a bivalent plus a univalent, and three univalents. The bivalent/univalent conformation of 21 chromosomes predominated. Pachytene chromomere maps were normal for all autosomal bivalents in 84 oocytes analyzed, except for minor variations in some 21 chromosomes. This complex system of pairing behavior of the 21 chromosomes theoretically affects subsequent disjunctional behavior and therefore may account for the observations of normal and trisomic progeny observed for Down's syndrome mothers. Further study of meiotic behavior during all stages of oogenesis in such patients would provide essential data for predicting chromosomal outcome of pregnancy in this population.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Considerations for developing syndrome-informed early interventions for children with neurogenetic conditions.
Int Rev Res Dev Disabil
October 2024
Department of Human Development and Family Studies, Colorado State University, United States.
New insights regarding the early emergence of phenotypic patterns of strength and challenge in neurogenetic conditions afford the possibility of personalized, anticipatory intervention approaches. The development of novel 'syndrome-informed' interventions, however, should incorporate principles that will maximize the utility of intervention activities for as many children with a given neurogenetic condition as possible. This review examines several of these dimensions, including the use of community-engaged frameworks to ensure feasibility and acceptability of novel interventions; the development of cross-nationally valid approaches that can be readily translated into other languages and cultural contexts; and the use of adaptive interventions designs that allow for the tailoring of intervention pathways based on key child dimensions.
View Article and Find Full Text PDFCompassionate Use of Omadacycline in a Down Syndrome Pre-Schooler With Critically Ill Atypical Pneumonia Caused by Macrolide-Resistant Mycoplasma Pneumoniae.
Infect Drug Resist
January 2025
Department of Critical Care Medicine, The Sixth Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, People's Republic of China.
Background: Rapid and accurate identification of causative organisms and prompt initiation of pathogen-targeted antibiotics are crucial for managing atypical pneumonia. The widespread application of targeted next-generation sequencing (t-NGS) in clinical practice demonstrates significant targeted advantages in rapid and accurate aetiological identification and antimicrobial resistance genes detection, particularly for difficult-to-culture, rare, or unexpected pathogens. An alarming surge of acquired macrolide resistance (MR) in (MP) presents a substantial challenge for the clinical selection of pathogen-targeted antibiotics worldwide, especially for fluoroquinolone-restricted pediatric patients with limited options available.
View Article and Find Full Text PDFComparison of Chairside Cooperative Ability with Social Quotient of Mentally Challenged Children.
Int J Clin Pediatr Dent
December 2024
Department of Pedodontics & Preventive Dentistry, Chettinad Dental College and Research Institute, Kelambakkam, Tamil Nadu, India.
Aims And Background: Fostering a positive dental attitude in children to enhance their oral health status and engaging them positively throughout their dental experience is the cornerstone of pediatric dentistry practices. The behavior of the child in a dental setting depends upon their emotional, psychological, and mental developmental state. Children with special health needs tend to have more anxiety than healthy children.
View Article and Find Full Text PDFComparison of Oral Hygiene and Gingival Outcomes in Children With Special Care Needs Using Powered or Manual Toothbrushes: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Spec Care Dentist
January 2025
Department of Paediatric and Preventive Dentistry, Bharati Vidyapeeth (Deemed to be University) Dental College and Hospital Navi Mumbai, Navi Mumbai, Maharashtra, India.
Aim: This systematic review and meta-analysis (SRMA) compares oral hygiene and gingival outcomes in children with special care needs (CSCNs) using powered or manual toothbrushes.
Material And Methods: Two authors searched articles using PubMed and Cochrane library; the search was extended to other databases to include publications until July 2024. RCTs available in English were included.
Modelling the human Coenzyme Q deficiency in Drosophila melanogaster.
Free Radic Biol Med
January 2025
Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain; CIBERER, U729, Instituto de Salud Carlos III, Madrid, Spain. Electronic address:
The interference of the expression of each of the genes involved in the synthesis of coenzyme Q (CoQ) in Drosophila melanogaster can help to understand the pathophysiology of CoQ-dependent mitochondrial diseases in humans. We have knocked-down all genes involved in the CoQ biosynthesis pathway at different temperatures to induce depletion of CoQ at different levels throughout the body and in a tissue-specific manner. The efficiency of the knockdowns was quantified by Q-RTPCR and determination of CoQ levels by HPLC-UV+ECD.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!