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Current and Emerging Therapies for Lysosomal Storage Disorders.
Drugs
January 2025
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, NW3 2QG, UK.
Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for breaking down substrates within cellular organelles (lysosomes) essential for the processing of macromolecules. Undigested substrate accumulates within lysosomes, leading to cellular dysfunction, tissue damage, and clinical manifestations. Clinical features vary depending on the degree and type of enzyme deficiency, the type and extent of substrate accumulated, and the tissues affected.
View Article and Find Full Text PDFLow Utility of Routine Thyroid Function Testing for Bowel Symptoms: A Population-Based Assessment.
Dig Dis Sci
January 2025
Division of Gastroenterology, Hepatology and Endoscopy, Brigham and Women's Hospital, 75 Francis Street, Boston, MA, 02115, USA.
Background: Chronic constipation, diarrhea, and fecal incontinence (FI) are prevalent with significant impact on quality of life and healthcare utilization. Thyroid dysfunction was recognized as a potential contributor to bowel disturbances in selected populations, but the strength/consistency of this association remain unclear.
Aims: To investigate the relationship between thyroid function and bowel health measures (constipation, diarrhea, and FI) in a nationally representative sample of the U.
Clinical and laboratory characteristics of Sjögren's syndrome-associated autoimmune liver disease: a real-world, 10-year retrospective study.
Clin Rheumatol
January 2025
Department of Rheumatology and Immunology, Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.
Objectives: To investigate the clinical and laboratory features of Sjögren's syndrome-associated autoimmune liver disease (SS-ALD) patients and identify potential risk and prognostic factors.
Methods: SS patients with or without ALD, who visited Tongji Hospital between the years 2011 and 2021 and met the 2012 American College of Rheumatology (ACR) classification criteria for Sjögren's syndrome, were retrospectively enrolled. The clinical and laboratory data of the enrolled patients, including autoimmune antibodies, were collected and analyzed with principal component analysis, correlation analysis, LASSO regression, and Cox regression.
Progress report on multiple endocrine neoplasia type 1.
Fam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFPrediction of pre-eclampsia using maternal hemodynamic parameters at 12 + 0 to 15 + 6 weeks.
Ultrasound Obstet Gynecol
January 2025
Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR, China.
Objectives: To compare the maternal hemodynamic profile at 12 + 0 to 15 + 6 weeks' gestation in women who subsequently developed pre-eclampsia (PE) and those who did not, and to assess the screening performance of maternal hemodynamic parameters for PE in combination with the Fetal Medicine Foundation (FMF) triple test, including maternal factors (MF), mean arterial pressure (MAP), uterine artery pulsatility index and placental growth factor.
Methods: This was a prospective case-control study involving Chinese women with a singleton pregnancy who underwent preterm PE screening at 11 + 0 to 13 + 6 weeks' gestation using the FMF triple test, between February 2020 and February 2023. Women identified as being at high risk (≥ 1:100) for preterm PE by the FMF triple test were matched 1:1 with women identified as low risk (< 1:100) for maternal age ± 3 years, maternal weight ± 5 kg and date of screening ± 14 days.
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