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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.
Mol Genet Genomic Med
January 2025
Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Background: Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Materials And Methods: In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection.
Application of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities.
Br J Hosp Med (Lond)
December 2024
Department of Obstetrics and Gynecology, Rizhao People's Hospital, Rizhao, Shandong, China.
Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities.
View Article and Find Full Text PDFA Multicenter ICET-A Survey on Adherence to Annual Oral Glucose Tolerance Test (OGTT) Screening in Transfusion-Dependent Thalassemia (TDT) Patients - The Expert Clinicians' Opinion on Factors Influencing the Adherence and on Alternative Strategies for Adherence Optimization.
Mediterr J Hematol Infect Dis
January 2025
Department of Diabetes and Endocrinology, Whittington Hospital, University College London, London, UK.
Background: Current guidelines for screening glucose dysregulation (GD) in patients with transfusion-dependent thalassemia (TDT) recommend an annual 2-hour oral glucose tolerance test (OGTT) starting at the age of 10 years.
Objective: Assessment of adherence to OGTT screening in patients with TDT.
Methods: A questionnaire was distributed to 18 Thalassemia Centers in 10 different countries, targeting factors influencing adherence to annual OGTT screening in specialized multidisciplinary pediatric and adult TDT units and identifying strategies to improve adherence to OGTT in TDT patients.
B4GALNT1 Regulates Hepatocellular Carcinoma Cell Proliferation and Apoptosis via the PI3K-AKT-mTOR Pathway.
J Clin Lab Anal
January 2025
Department of Laboratory Medicine, The Seventh People's Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Background: Hepatocellular carcinoma (HCC) is a ubiquitous malignancy linked to significant mortality. The abnormal expression of β-1,4-N-acetyl-galactosaminyltransferase 1 (B4GALNT1) seemed to be implicated in tumorigenesis. Nonetheless, this enzyme's roles in HCC are unclear.
View Article and Find Full Text PDFPrenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003-2022.
Am J Med Genet A
January 2025
Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Parents of children with Down syndrome have historically reported poor experiences receiving a prenatal diagnosis. In a 2003 survey, mothers reported that their physicians pitied them, emphasized negative aspects of Down syndrome, and encouraged them to terminate the pregnancy. This study assesses whether parents' perceptions have since improved.
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