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Recommendations for Improving Surveillance of Congenital Anomalies in Europe Using Healthcare Databases.
Paediatr Perinat Epidemiol
January 2025
Department of Paediatrics and Adolescent Medicine, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark.
Background: Although accessing administrative data in healthcare databases may be a more time-efficient and cost-effective method of conducting surveillance, there is evidence suggesting that administrative data alone are not sufficient for population-based surveillance of congenital anomalies.
Objective: To propose recommendations to maximise the potential use of healthcare databases for surveillance of congenital anomalies based on our data linkage experiences and results from the EUROlinkCAT study.
Methods: EUROlinkCAT is a population-based cohort study of 99,416 children with anomalies born between 1995 and 2014.
Urine miRNA signature as potential non-invasive diagnostic biomarker for Hirschsprung's disease.
Front Mol Neurosci
January 2025
Department of Pediatric Surgery, Medical Faculty of Mannheim, University of Heidelberg, Mannheim, Germany.
Hirschsprung's disease (HSCR) is characterized by congenital absence of ganglion cells in the gastrointestinal tract, which leads to impaired defecation, constipation and intestinal obstruction. The current diagnosis of HSCR is based on Rectal Suction Biopsies (RSBs), which could be complex in newborns. Occasionally, there is a delay in diagnosis that can increase the risk of clinical complications.
View Article and Find Full Text PDFAutotransplantation of a Third Molar to Replace Compromised Molar With the Individual Three-Dimensional Printed Ultrasonic Osteotome: A Case Report.
Case Rep Dent
January 2025
Department of Endodontics, Hangzhou Stomatology Hospital, Hangzhou, Zhejiang, China.
Tooth autotransplantation is widely used to replace congenitally missing teeth or teeth with irreversible damage. This case report presents a personalized ultrasonic osteotome that enables precise preparation, minimizes bone trauma, enhances the initial stability of the transplanted tooth, and contributes to a favorable prognosis. The procedure is as follows: a 25-year-old female patient presented with a porcelain-fused-to-metal crown on Tooth #19, which had detached due to severe decay, rendering the tooth unsalvageable.
View Article and Find Full Text PDFDeveloping Assessments for Key Stakeholders in Pediatric Congenital Heart Disease: Qualitative Pilot Study to Inform Designing of a Medical Education Toy.
JMIR Form Res
January 2025
Department of Design Innovation, College of Design, University of Minnesota, Twin Cities, Minneapolis, MN, United States.
Background: Congenital heart disease (CHD) is a birth defect of the heart that requires long-term care and often leads to additional health complications. Effective educational strategies are essential for improving health literacy and care outcomes. Despite affecting around 40,000 children annually in the United States, there is a gap in understanding children's health literacy, parental educational burdens, and the efficiency of health care providers in delivering education.
View Article and Find Full Text PDFMYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.
Am J Med Genet A
January 2025
NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature.
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