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Closure of ventricular septal defect in children with trisomy 18: perioperative events and long-term survival.
Interdiscip Cardiovasc Thorac Surg
January 2025
Department of Pediatrics, Kansai Medical University, Hirakata, Osaka, Japan.
Objectives: This retrospective study aimed to investigate the feasibility of surgical closure of ventricular septal defect in children with trisomy 18 by assessing perioperative events and long-term survival.
Methods: From April 2008 to March 2024, 41 consecutive patients were referred to us for ventricular septal defect surgery. The defect was closed in 35 patients at the end (median age, 16 months; median body weight, 5.
Chromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases.
Cells
December 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.
Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from 23 to 44. Cytogenetic data were obtained by conventional karyotyping of 7118 miscarriages in women with naturally conceived pregnancies.
View Article and Find Full Text PDFUpper gastrointestinal stenosis, which can be congenital or acquired, can lead to dysphagia. The association between trisomy 17p syndrome, a rare chromosomal abnormality, and upper gastrointestinal stenosis is unclear. A 20-year-old man diagnosed with trisomy 17p syndrome was referred to our department due to recurrent vomiting.
View Article and Find Full Text PDFGenetic analysis of partial duplication of the long arm of chromosome 16.
BMC Med Genomics
December 2024
Department of Pediatrics, Sichuan Provincial Woman's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).
View Article and Find Full Text PDFFertility and Sexual Function in Males with Hirschsprung's Disease: A Nordic Cross-Sectional Study.
Ann Surg
December 2024
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Objective: The aim was to assess fertility, sexual function and sexual quality of life in males with Hirschsprung's disease (HSCR) in the Nordic countries with a cross-sectional study using self-reported validated questionnaires.
Summary Background Data: Data on fertility and sexual function in males with HSCR are limited.
Methods: This multi-center study targeted all males born between 1970-2003 who underwent pull-through surgery at a pediatric surgery center in Sweden, Denmark, Norway, or Finland.
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