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Hypophosphatemia in pregnancy: A case report.
Niger Med J
January 2025
Department of Obstetrics and Gynaecology, AIIMS, Bilaspur, Himachal Pradesh, India.
Autosomal hypophosphatemic rickets though a rare genetic disorder can lead to significant discomfort to the patient resulting in clinical deterioration and a poor quality of life. We describe a case of a 33-year-old woman G2P1001 at 6 weeks of gestation with complaints of myalgia and bony pains. Keeping her history of bony pains and fractures in mind, she was further evaluated.
View Article and Find Full Text PDFGestational Diabetes Mellitus and Feto-Maternal Outcomes in Federal Medical Centre, Yenagoa, Bayelsa State-A Comparative Study of Two Diagnostic Criteria.
Niger Med J
January 2025
Department of Internal Medicine, Federal Medical Centre, Yenagoa, Bayelsa State, Nigeria.
Background: The prevalence of gestational diabetes mellitus (GDM) is dependent on the diagnostic criteria used and there is no consensus on screening methods and diagnostic criteria. The International Association for Diabetes in Pregnancy Study Group (IADPSG) recently put forward new diagnostic criteria and encourages its adoption worldwide. The aim of this study was to determine the incidence of GDM and to compare the foeto-maternal outcomes of women diagnosed with GDM in the Federal Medical Centre, Yenagoa using the WHO 1999 and IADPSG criteria.
View Article and Find Full Text PDFCase Report: Prenatal diagnosis of novel compound heterozygous variants in gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
Front Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
Fetal hematological phenotypes of various hemoglobinopathies and demonstration of embryonic hemoglobins on capillary electrophoresis: a large cohort data from prenatal screening program.
Diagnosis (Berl)
January 2025
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.
Methods: A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed.
Fetal Cardiac Function and Remodeling in In Vitro Fertilization Pregnancies: A Tertiary Center Experience.
Echocardiography
February 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Purpose: To investigate fetal cardiac functions and remodeling in pregnancies conceived via in vitro fertilization (IVF).
Methods: This prospective case-control study included 40 singleton IVF pregnancies and 46 uncomplicated control pregnancies at 28-36 weeks of gestation. The IVF group consisted of pregnancies applied to the outpatient clinic, excluding those with anatomical or chromosomal abnormalities.
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