Results 61 to 70 of about 110,198 (324)

Trisomy 21 and Down syndrome: a short review

Brazilian Journal of Biology
Even though the molecular mechanisms underlying the Down syndrome (DS) phenotypes remain obscure, the characterization of the genes and conserved non-genic sequences of HSA21 together with large-scale gene expression studies in DS tissues are enhancing ...
CA. Sommer, F. Henrique-Silva
doaj   +1 more source

Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present mosaic double trisomy involving trisomy 7 and trisomy 20 at amniocentesis in a pregnancy with a favorable outcome. Case report: A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Yun-Yi Chen, Wayseen Wang   +8 more
doaj   +1 more source

Vitamin B12 deficiency in a pediatric patient with gastric obstruction and jejunal feeding dependence: A case report

JPGN Reports, EarlyView.
Abstract Pediatric B12 deficiency is most caused by insufficient dietary intake, malabsorption or autoimmune gastritis. We present a unique case of B12 deficiency in a pediatric patient with complex gastrointestinal anatomy and jejunal nutritional dependence nearly two decades after unsuccessful surgical intervention.
Angela H. Nguyen, Dorsey Bass, Rachel E. Herdes   +2 more
wiley   +1 more source

Cost‐Utility Analysis of Intracapsular and Extracapsular Techniques for Pediatric Tonsillectomy

The Laryngoscope, EarlyView.
Intracapsular coblation tonsillectomy (ICT) is more cost‐effective than extracapsular tonsillectomy (ECT) in pediatric patients, particularly for ambulatory procedures. In a prospective cohort of over 5000 cases, ICT was associated with lower costs and comparable or better quality‐adjusted life years, even when accounting for potential revision ...
Stephen R. Chorney, Romaine F. Johnson, Ron B. Mitchell   +2 more
wiley   +1 more source

Is Ankyloglossia Correlated With Pediatric Sleep Disordered Breathing? A Systematic Review

The Laryngoscope, EarlyView.
An increasing breadth of conditions and symptoms are being ascribed to ankyloglossia. As diagnosis of ankyloglossia and frequency of frenotomy exponential increase, it is important to have an understanding of the associated evidence. This systematic review summarizes the evidence for ankyloglossia's association with sleep disordered breathing in ...
Nainika Venugopal, Josh Neposlan, Andrew Bysice, Sami Khoury, Edward Madou, Raymond Lee, Julie E. Strychowsky, Aaron St‐Laurent, Claire M. Lawlor, M. Elise Graham   +9 more
wiley   +1 more source

The Impact of Inherited Thrombophilia on First Trimester Combined Aneuploidy Screening Parameters

Acta Medica Bulgarica
Objective. To investigate the impact of thrombophilia on pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG) and the nuchal translucency (NT) during the first trimester of the pregnancy.
Kirovakov Z., Hinkova N., Konova E.
doaj   +1 more source

Association of Down syndrome with major congenital anomalies in the North Indian population

Journal of Mahatma Gandhi Institute of Medical Sciences, 2021
Context: Down syndrome (DS), which usually occurs due to an extra chromosome 21 or a partial trisomy, is the most common genetic cause of intellectual disability.
Kanchan Bisht, Rakesh Kumar Verma, Navneet Kumar, Shakal Narayan Singh, Baibhav Bhandari   +4 more
doaj   +1 more source

Transoral Robotic Lingual Tonsillectomy for Pediatric Obstructive Sleep Apnea

The Laryngoscope, EarlyView.
ABSTRACT Objectives Our objective was to investigate the safety and efficacy of transoral robotic surgery (TORS) lingual tonsillectomy (LT) with and without epiglottopexy and to compare it with non‐robotic approaches for children with obstructive sleep apnea (OSA).
Daniel J. Campbell, Daron Excel, W. Jack Palmer, Heather C. Nardone, Douglas R. Johnston   +4 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source