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Genetic Association Study of Acetylcholinesterase () and Butyrylcholinesterase () Variants in Sudden Infant Death Syndrome (SIDS).
Genes (Basel)
December 2024
Institute of Legal Medicine, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.
Background: Sudden infant death syndrome (SIDS) is the leading cause of death among infants aged between one month and one year. Altered enzyme activities or expression of acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) have been observed in SIDS patients that might lead to disturbed autonomic function and, together with other risk factors, might trigger SIDS. To explore the contribution of AChE and BChE from a genomic viewpoint, we sought to investigate the association between SIDS and selected single nucleotide polymorphisms (SNPs) in the and genes.
View Article and Find Full Text PDFMutation in and a Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.
Case Rep Genet
December 2024
Cardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA.
Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD.
View Article and Find Full Text PDFAmniotic Fluid Embolism After Cervical Ripening.
Cureus
December 2024
Obstetrics, Orlando Regional Medical Center, Orlando, USA.
Article Synopsis
- Amniotic fluid embolism (AFE) is a rare but severe complication during childbirth that can lead to rapid failure of multiple organ systems and significant maternal mortality.
- A case study involving a 31-year-old woman induced for labor revealed AFE's unpredictability, as she developed sudden fetal distress and hypoxia, leading to an emergency cesarean delivery.
- Despite the high mortality associated with AFE, both the mother and the infant survived and were doing well six months later, highlighting the importance of prompt diagnosis and treatment options like the "A-OK" protocol.
Analysis of the clinical characteristics and outcomes of pregnant women with different degrees of pulmonary hypertension.
J Matern Fetal Neonatal Med
December 2025
Department of Obstetrics and Gynecology, The First Affiliated Hospital of University of Science and Technology of China, Hefei, Anhui, China.
Objectives: To investigate the clinical situation and pregnancy outcome of pregnant women with pulmonary arterial hypertension (PAH).
Methods: A retrospective analysis was conducted on 125 pregnant women with varying degrees of PAH who were treated in the Department of Obstetrics and Gynecology of the First Affiliated Hospital of the University of Science and Technology between January 2016 and January 2023. The patients were divided into the mild group (58 cases), the moderate group (42 cases), and the severe group (25 cases) based on the pulmonary artery systolic blood pressure (PASBP) measurements.
Feasibility of Implementing Resuscitation Training for Parents of At-risk Infants at Discharge (FIRST AID).
Indian Pediatr
January 2025
Department of Neonatology, St John's Medical College Hospital, Bangalore, Karnataka, India.
Introduction: Neonatal intensive care unit (NICU) graduates are at risk of sudden death at home after discharge. Many of these deaths can be prevented if parents can identify warning signs and provide immediate resuscitation.
Objectives: The primary objective of this study was to assess the feasibility of training parents of high-risk neonates in low- and middle-income countries (LMICs) to deliver infant resuscitation effectively.
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