This meta-analysis was performed to clarify controversial associations of the 677C > T gene polymorphism in maternal and foetal tissue with neonatal defects. It was reported the association of 677 C > T gene polymorphism with frequencies of neonatal defects including congenital heart disease (CHD), neural tube defects (NTD), non-syndromic cleft lip and palate (NSCL/P), and Down syndrome (DS). Depending on the neonatal defect subtypes, 677 C > T gene polymorphism was associated with NTD, CHD (except for codominant mode of inheritance (TC/CC) and dominant mode of inheritance (TT + TC/CC); = .167 and = .054, respectively), DS, and NSCL/P (codominant mode of inheritance (TC/CC), = .032) in the maternal group. However, in the neonatal group, the 677 C > T gene polymorphism was only associated with the frequency of NTD and CHD. Maternal and neonatal 677 C > T gene polymorphisms appear to be associated with neonatal defects but differ by defect types.IMPACT STATEMENT Neonatal defects are a signifcant problem and are related to genes involved in the metabolism of homocysteine and folate. The 677C > T polymorphism in maternal and neonatal subjects was significantly associated with neonatal defects. When the neonatal subjects were stratified based on disease, the maternal 677C > T polymorphism was found to be significantly correlated with all four neonatal defects. In contrast, the polymorphism in newborns was significantly associated with neural tube defects. We believe that our study makes a significant contribution to the literature because it collectively analysed neural tube defects, congenital heart disease, cleft lip and palate, and Down syndrome in relation to the 677C > T polymorphism of . Thus, we anticipate that this study will serve as a valuable resource for future investigations of neonatal defect prevention and maternal inheritance in newborn diseases.
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http://dx.doi.org/10.1080/01443615.2022.2039908 | DOI Listing |
Hum Brain Mapp
January 2025
Center for MR Research, University Children's Hospital Zurich, Zurich, Switzerland.
The human brain connectome is characterized by the duality of highly modular structure and efficient integration, supporting information processing. Newborns with congenital heart disease (CHD), prematurity, or spina bifida aperta (SBA) constitute a population at risk for altered brain development and developmental delay (DD). We hypothesize that, independent of etiology, alterations of connectomic organization reflect neural circuitry impairments in cognitive DD.
View Article and Find Full Text PDFCureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFJ Family Med Prim Care
December 2024
Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
December 2024
Division of Cardiothoracic Surgery, Department of Surgery, Duke University Hospital, Durham, North Carolina.
Background: This study sought to determine the safety of primary and staged biventricular repair in neonates with interrupted aortic arch (IAA), ventricular septal defect (VSD), and severe left ventricular outflow tract obstruction (LVOTO).
Methods: Patients with a fundamental diagnosis of IAA and VSD between 2015 and 2020 were extracted from The Society of Thoracic Surgeons National Database by using a Participant User File. The objective was to compare outcomes for neonates undergoing primary and staged Yasui and Ross operations.
Orphanet J Rare Dis
January 2025
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus, Groningen, 30001 - 9700 RB, the Netherlands.
Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.
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