Objectives: Birth defects occur in all ethnic groups, remaining an important world-wide cause of perinatal and infant morbidity. This contributes greatly to an excess of health care dollars allocated to the care and repair of those affected. This is especially true when those affected live in remote geographical locations.
Study Design: A chart review of 2567 live births of children of Inuit parents residing in Arctic Quebec (Nunavik) and on Baffin Island (Nunavut) between 1989 and 1994 (five years) was carried out compared to rates of anomalies of the Alberta Congenital Anomalies Surveillance System (ACASS).
Results: Birth defects were higher in the Inuit sample in nearly every major ICD-9 category with the exception of neural tube defects, eye anomalies and chromosome abnormalities. (Total: 99.7/1000 Vs 51.5/1000; OR 1.93 95% CI 1.7-2.3). Congenital heart defects were significantly increased 22.9/1000 Vs 5.6/1000, with an OR of 4.18 (95% CI 3.2-5.4) in the ICD-9 category 745. In particular, ventricular septal defects (VSDs) and atrial septal defects (ASDs) (OR 4.9 CI 3.5-6.9 and 4.6 CI 2.9-7.2) were frequent.
Conclusions: A high rate of heart defects was an important contributor to the nearly two times rate of total birth defects in the Inuit compared to the ACASS. Further study should be carried out to determine the contributing factors. Genetic predisposition to specific heart defects, and a diet low in folate and vitamin A are considerations. The use of alcohol may exacerbate vitamin status in pregnancy. Optimizing vitamin status in the periconceptional period may reduce the rate of birth defects.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.3402/ijch.v63i3.17720 | DOI Listing |
Sci Transl Med
January 2025
Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Primary ciliary dyskinesia is a rare monogenic syndrome that is associated with chronic respiratory disease, infertility, and laterality defects. Although more than 50 genes causative of primary ciliary dyskinesia have been identified, variants in the genes encoding coiled-coil domain-containing 39 (CCDC39) and CCDC40 in particular cause severe disease that is not explained by loss of ciliary motility alone. Here, we sought to understand the consequences of these variants on cellular functions beyond impaired motility.
View Article and Find Full Text PDFMalawi Med J
January 2025
Department of Paediatrics, College of Medicine, University of Nigeria Ituku/Ozalla and University of Nigeria Teaching Hospital Ituku/Ozalla, Enugu, Enugu State, Nigeria.
Background: Children with Tetralogy of Fallot (TOF) usually present with right heart abnormalities, however much is not known if these children presents with left ventricular dysfunction.
Objectives: This article is aimed to ascertain the left ventricular function of children with TOF compared with those without any congenital heart disease. It also elicits the correlation if any, between left ventricular mass and descending aorta blood flow.
World J Pediatr Congenit Heart Surg
January 2025
Department of Cardiac Anesthesia, U. N. Mehta Institute of Cardiology and Research Centre, Ahmedabad, India.
Objective: The authors sought to evaluate the role of nutritional indices such as Onodera's prognostic nutrition index (PNI), World Health Organization (WHO)-based anthropometric measurements such as weight for age (w/a), height for age, weight for height, and perioperative serum albumin levels in the determination of postoperative clinical outcomes in pediatric patients who undergo surgery for congenital cardiac defects and surgical complexity (risk-adjusted congenital heart surgery score) and its correlation with postoperative course.
Material And Methods: In this prospective observational study, 108 post-pediatric cardiac surgery patients under the age of 18 months were enrolled between January 2023 and August 2023. Through receiver operating characteristic curve analysis we have found the cutoff value for PNI is ≤66.
Echocardiography
February 2025
Department of Echocardiography, Heart Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
We reported a 3-year-old girl with cyanosis. The patient was diagnosed with an obstructive Chiari network, which is an unrecognized cause of cyanosis. Echocardiography was used to diagnose this disease and provide additional information on flow and pressure gradients.
View Article and Find Full Text PDFBMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!