Unlabelled: The perinatal manifestations of the long QT syndrome are rare, but early diagnosis and therapy are necessary to prevent sudden death.
Case Reports: A long QT syndrome was diagnosed in two neonates who presented with foetal bradycardia. In one case, a mutation in the gene KCNQ1 was identified, and a long QT syndrome was diagnosed in the mother and two brothers of the neonate. On beta-blocker therapy, one infant became free of long QT syndrome related symptoms, but a sudden death of the second infant occurred.
Conclusion: The long QT syndrome should be considered in the differential diagnosis of foetal bradycardia. Early treatment of the neonate and his family may prevent ventricular arrhythmias and sudden death.
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http://dx.doi.org/10.1016/s0929-693x(01)00992-7 | DOI Listing |
Clin Genet
January 2025
Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in WNT10B: c.
View Article and Find Full Text PDFActa Physiol (Oxf)
February 2025
Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular and Integrative Biology, Faculty of Health and Life Sciences, University of Liverpool, Liverpool, UK.
Aim: Long QT syndrome (LQTS) and catecholaminergic polymorphism ventricular tachycardia (CPVT) are inherited cardiac disorders often caused by mutations in ion channels. These arrhythmia syndromes have recently been associated with calmodulin (CaM) variants. Here, we investigate the impact of the arrhythmogenic variants D131E and Q135P on CaM's structure-function relationship.
View Article and Find Full Text PDFNutr Metab (Lond)
January 2025
Shenzhen Center for Chronic Disease Control, No. 2021 Buxin Road, Luohu District, Shenzhen, 518020, China.
Background: Serum vitamin D deficiency is intricately linked to metabolic disorders, however, evidence on its association with continuous metabolic risk in children and adolescents remains insufficient. This study aims to elucidate the relationship between serum vitamin D levels and continuous metabolic risk.
Methods: The cross-sectional analysis involved 4490 participants aged 6 ~ 18, and the longitudinal investigation included 1398 individuals aged 6 ~ 12 years.
BMC Public Health
January 2025
Department of Health Economics and Development, Ministry of Health, Distrito Federal, Brazil.
Background: For a long time, the penalty of imprisonment has been studied and criticized as ineffective in achieving the goals of resocialization and rehabilitation of offenders, and studies have associated incarceration with increased prevalence of disease. In response to the COVID-19 pandemic, the World Health Organization recommended decarceration as a prevention measure. The aim of this review was to analyze the effectiveness of non-exposure to incarceration in preventing COVID-19 and mitigating associated events.
View Article and Find Full Text PDFActa Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
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