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Prenatal 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 PDFIdentification of important genes related to ferroptosis in early missed abortion based on WGCNA.
Sci Rep
January 2025
Department of Prenatal Diagnosis, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Early missed abortion is defined as a pregnancy of ≤ 12 weeks in which there is a cessation of life in the developing embryo or fetus, leading to its retention within the uterine cavity without being spontaneously expelled promptly. This condition is commonly observed and significantly impacts human reproductive health. This study aimed to identify key genes related to ferroptosis that could serve as novel biomarkers for early missed abortion.
View Article and Find Full Text PDFProposal of a novel index in assessing perinatal mortality in prenatal diagnosis of Sacrococcygeal Teratoma.
J Perinat Med
January 2025
Fetal Medicine Unit, Grupo CERAS, Clinica Anglo Americana, British Medical Hospital, Lima, Peru.
Objectives: To describe obstetric characteristics and perinatal outcomes in a serie of fetuses with Sacrococcygeal Teratoma (SCT) and propose a novel index to assess postnatal mortality based on the THC ratio and the addition of the presence of polyhydramnios.
Methods: A retrospective study in a referral teaching hospital between 2013 and 2023. A descriptive analysis and a receiver operating characteristic (ROC) curve were performed to the determine the optimal cutoff value of the THC plus polyhydramnios based on optimal sensitivity and specificity.
Correction: MKRN1 promotes colorectal cancer metastasis by activating the TGF-β signalling pathway through SNIP1 protein degradation.
J Exp Clin Cancer Res
January 2025
Clinical Medical College, Guizhou Medical University, Guizhou, Guiyang, 550004, People's Republic of China.
Small bowel duplication cyst in the pediatric population-when to operate?
Pediatr Surg Int
January 2025
Department of Pediatric and Adolescent Surgery, Schneider Children's Medical Center of Israel, 14 Kaplan St, Petah Tiqwa, Israel.
Introduction: AIM: The aim of the study is to determine the optimal timing for surgery in patients with small bowel duplications.
Methods: A retrospective cohort study, including all patients younger than 18 years who were diagnosed with small bowel duplications from 2013 until 2024 in a single tertiary medical center, was performed. Patients' demographics, duplication size and location, pathological results, and clinical outcomes were collected.
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