We report on the prenatal diagnosis of a familial fra10(q23)/del(10)(q23) detected after cellular cultures in non-folic deprived medium.
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Loss-of-function SLC25A20 mutation causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
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December 2024
Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
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December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
View Article and Find Full Text PDFAssociation between maternal usage of volatile organic compounds and West syndrome, the Japan Environment and Children's study.
Sci Rep
December 2024
Department of Pediatrics, School of Medicine, Hyogo Medical University, Nishinomiya, Hyogo, Japan.
Multiple etiologies of West syndrome have been reported; however, there are cases of unknown etiologies. Exposure to volatile organic compounds (VOCs) increases the risk of epilepsy; however, their effects on children remain unknown. This study aimed to investigate the association between maternal occupational usage of VOCs and West syndrome development in children.
View Article and Find Full Text PDFEffects of Gestational Diabetes Mellitus on Fetal Cardiac Morphology.
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Department of Perinatology, Ege University, İzmir 35000, Turkey.
Objective: This study aims to investigate the possible effects of gestational diabetes mellitus (GDM) on fetal heart structure and the relationship of this effect with maternal blood sugar control.
Materials And Methods: In this cross-sectional study, 19 women with GDM at 24-36 weeks of gestation (case group) and 21 healthy pregnant women at the same weeks of gestation (control group) were examined. Fetal heart structure was evaluated by ultrasonography; interventricular septum (IVS) thickness, right and left ventricular sphericity indices, global sphericity index (GSI) and cardio-thoracic ratio were also measured.
Sensing Platform Based on Gold Nanoclusters and Nanoporous Anodic Alumina for Preeclampsia Detection.
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Department of Electronics, Electric, and Automatic Engineering, Rovira I Virgili University (URV), 43007 Tarragona, Spain.
Preeclampsia is a pregnancy-specific hypertensive syndrome recognized as the leading cause of maternal and fetal morbidity worldwide. Early diagnosis is crucial for mitigating its adverse effects, and recent investigations have identified endoglin as a potential biomarker for this purpose. Here, we present the development of a hybrid biosensor platform for the ultrasensitive detection of endoglin, aimed at enabling the early diagnosis of preeclampsia.
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