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Rare and common genetic variants underlying the risk of Hirschsprung's disease.
Hum Mol Genet
January 2025
Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Avenue, Qiaokou District, Wuhan, Hubei 430030, China.
Hirschsprung's disease (HSCR) is a congenital enteric neuropathic disorder characterized by high heritability (>80%) and polygenic inheritance (>20 genes). The previous genome-wide association studies (GWAS) identified several common variants associated with HSCR and demonstrated increased predictive performance for HSCR risk in Europeans using a genetic risk score, there remains a notable gap in knowledge regarding Chinese populations. We conducted whole exome sequencing in a HSCR case cohort in Chinese.
View Article and Find Full Text PDFMaternal mental disorders, psychotropic drugs, socioeconomic status, and offspring congenital anomalies.
J Int Med Res
January 2025
Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Objective: To evaluate whether there is an association between maternal mental health, purchase of psychotropic drugs, socioeconomic status and major congenital anomalies in offspring.
Methods: A register-based cohort study of 6189 Finnish primiparous women who had a singleton delivery between 2009 and 2015. Data on pregnancy and delivery outcomes, psychiatric diagnosis, prescription drug purchases and offspring congenital anomalies were obtained from Finnish national registers.
Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Background: Immediately after birth, adaptation to the extrauterine environment includes an upregulation of fatty acid catabolism. Cystic fibrosis and untreated hypothyroidism exert a life-long impact on fatty acid metabolism, but their influence during this transitional period is unknown. Children and adults with cystic fibrosis exhibit unbalanced fatty acid composition, most prominently a relative deficit of linoleic acid.
View Article and Find Full Text PDFEvaluation of the relationship between worry and anxiety with the general health status of pregnant women at risk of diagnosing abnormalities.
Reprod Health
January 2025
School of Medicine, North Khorasan University of Medical Sciences, Bojnurd, Iran.
Background: Today, the screening of fetal abnormalities during pregnancy is used as one of the components of the prenatal care worldwide, and many abnormalities are detected by ultrasound during pregnancy. On the other hand, the possibility of an abnormality in the fetus causes worry and anxiety in pregnant women. Therefore, the present study was conducted with the aim of determining the relationship between worry and anxiety with the general health status of pregnant women at risk of diagnosing fetal abnormalities.
View Article and Find Full Text PDFCongenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
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