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Cardiovascular Risk Biomarkers in Women with and Without Polycystic Ovary Syndrome.
Biomolecules
December 2024
Research Department, Royal College of Surgeons of Ireland, Adliya, Busaiteen 15503, Bahrain.
Objective: Polycystic ovary syndrome (PCOS) is a prevalent metabolic disorder with an increased risk for cardiovascular disease (CVD) that is enhanced by obesity. This study sought to determine whether a panel of cardiovascular risk proteins (CVRPs) would be dysregulated in overweight/obese PCOS patients, highlighting potential biomarkers for CVD in PCOS.
Methods: In this exploratory cross-sectional study, plasma levels of 54 CVRPs were analyzed in women with PCOS (n = 147) and controls (n = 97).
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.
Mol Genet Metab
December 2024
Department of Molecular Medicine and Medical Biotechnology, Medical School, University of Naples Federico II, 80131 Naples, Italy; CEINGE-Biotecnologie Avanzate Franco Salvatore s.c.ar.l., 80145 Naples, Italy. Electronic address:
Background: Newborn screening (NBS) is a simple, non-invasive test that allows for the early identification of genetic diseases within the first days of a newborn's life. The aim of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible, before the onset of disease symptoms. Early diagnosis enables timely treatments and improves the quality of life for affected patients.
View Article and Find Full Text PDFPrenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFTwo-year follow-up after drug desensitization in mucopolysaccharidosis.
Orphanet J Rare Dis
December 2024
Post Graduate School in Allergology and Internal Medicine "Guido Baccelli", Department of Precision and Regenerative Medicine and Ionian Area-(DiMePRe-J), School of Medicine, Aldo Moro University of Bari, Bari, 70124, Italy.
Background: Mucopolysaccharidosis (MPS) type 1 S and type 2 are rare lysosomal storage disorders characterized by impaired enzyme production, resulting in glycosaminoglycans accumulation within lysosomes. Enzyme Replacement Therapy (ERT) with laronidase and idursulfase are first line treatments, respectively. However, infusion-related hypersensitivity reactions (HR) may lead to ERT discontinuation.
View Article and Find Full Text PDFNewborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes.
Pediatr Neurol
February 2025
Division of Pediatric Transplant and Cellular Therapy, Department of Pediatrics, Duke University, Durham, North Carolina.
Article Synopsis
- The study examines the outcomes of hematopoietic cell transplantation (HCT) in infants with Hurler syndrome (HS) diagnosed through newborn screening (NBS).
- Patients underwent a busulfan-based treatment regimen and umbilical cord blood HCT, showing promising results with no graft failures and recovery of enzyme levels.
- At follow-up, most patients were thriving and meeting developmental milestones, suggesting that NBS and early transplantation are effective in treating HS.
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