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Precision in Liver Diagnosis: Varied Accuracy Across Subgroups and the Need for Variable Thresholds in Diagnosis of MASLD.
Liver Int
February 2025
Department of Epidemiology and Data Science, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
Background And Aims: The performance of non-invasive liver tests (NITs) is known to vary across settings and subgroups. We systematically evaluated whether the performance of three NITs in detecting advanced fibrosis in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) varies with age, sex, body mass index (BMI), type 2 diabetes mellitus (T2DM) status or liver enzymes.
Methods: Data from 586 adult LITMUS Metacohort participants with histologically characterised MASLD were included.
Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFBilateral Adrenal Infarction and Secondary Haemorrhage in Pregnancy: Implications of Factor V Leiden Heterozygosity: A Review of the Literature and a Case Report.
Clin Med (Lond)
January 2025
Obstetrics and Gynaecology Department, The James Cook University Hospital, South Tees NHS Foundation Trust, Middlesbrough, United Kingdom.
Adrenal haemorrhage in pregnancy is rare but can lead to significant maternal and foetal morbidity if unrecognised. We present the case of a 25-year-old woman in her second pregnancy, who was admitted at 34+4 weeks of gestation with severe abdominal pain. Despite initial unremarkable assessments, further imaging revealed a left adrenal haemorrhage, with evidence of prior right adrenal infarction, resulting in primary adrenal insufficiency.
View Article and Find Full Text PDFShould adrenal incidentaloma patients be evaluated for muscle mass, function, and quality? A cross-sectional study.
Endocrine
January 2025
Department of Endocrinology and Metabolic Diseases, Manisa Celal Bayar University Hospital, Manisa, Turkey.
Purpose: Our study evaluated skeletal muscle mass, function and quality among mild autonomous cortisol secretion (MACS) patients and non-functioning adrenal incidentaloma (NFAI) patients in comparison with the control group without adrenal mass.
Methods: 63 NFAI (49 female, 14 male) and 31 MACS (24 female, 7 male) patients were included in the study. As the control group, 44 patients (31 women, 13 men) who were known to have no radiological adrenal pathology on computed tomography or magnetic resonance imaging performed for other reasons were selected.
18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.
Calcif Tissue Int
January 2025
Endocrinology Department, School of Medicine, Pontificia Universidad Católica de Chile, Av. Diagonal Paraguay 262, Cuarto Piso, Santiago, Chile.
X-linked hypophosphatemia (XLH) is a rare metabolic disorder characterized by elevated FGF23 and chronic hypophosphatemia, leading to impaired skeletal mineralization and enthesopathies that are associated with pain, stiffness, and diminished quality of life. The natural history of enthesopathies in XLH remains poorly defined, partly due to absence of a sensitive quantitative tool for assessment and monitoring. This study investigates the utility of 18F-NaF PET/CT scans in characterizing enthesopathies in XLH subjects.
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