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Mechanism of female CHH caused by compound heterozygous mutations in the LHB gene.
J Assist Reprod Genet
January 2025
Institute of Basic Medical Sciences of the Chinese Academy of Medical Sciences, School of Basic Medicine, Center of Excellence in Tissue Engineering of Chinese Academy of Medical Sciences, Peking Union Medical College, Peking Union Medical College Hospital, Beijing Key Laboratory, PekingBeijing, 100730, China.
Background: Luteinizing hormone (LH) plays a crucial role in the postnatal development and maturation of gonads. Inactivating mutations of the luteinizing hormone beta subunit (LHB)gene are extremely rare and can result in congenital hypogonadotropic hypogonadism (CHH).
Methods: We conducted DNA sequencing on an 18-year-old female patient with undetectable LH and clinical symptoms of CHH.
Haematopoietic stem cell transplantation in children with inborn errors of immunity: A single centre experience.
Scand J Immunol
January 2025
Department of Pediatric Hematology Oncology & Bone Marrow Transplantation Unit, University of Health Sciences Ankara Bilkent City Hospital, Ankara, Turkey.
This study retrospectively analyzed the outcomes of 61 pediatric patients with inborn errors of immunity (IEI) who underwent hematopoietic stem cell transplantation (HSCT) between 2011 and 2023. Patients were categorized into primary immunodeficiency disorders (PIDD), primary immune dysregulation disorders (PIRD), and congenital defects of phagocyte number or function (CDP). Median ages at diagnosis and HSCT were 9 and 30 months, respectively.
View Article and Find Full Text PDFTriheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.
Cardiol Young
January 2025
Congenital Heart Center, Division of Pediatric Cardiology, Departments of Pediatrics, University of Florida, Gainesville, FL, USA.
Article Synopsis
- Mitochondrial trifunctional protein deficiency is a disorder affecting long-chain fatty acid metabolism, leading to severe heart issues like cardiomyopathy and arrhythmias.
- Triheptanoin, a synthetic medium-chain triglyceride, has shown potential to improve cardiomyopathy in some cases, although research is limited for severe presentations.
- A case is presented of a newborn with severe disease who did not improve despite receiving mechanical support and triheptanoin treatment.
SLC10A7 regulates O-GalNAc glycosylation and Ca homeostasis in the secretory pathway: insights into SLC10A7-CDG.
Cell Mol Life Sci
January 2025
Univ. Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale Et Fonctionnelle, 59000, Lille, France.
Glycans are known to be fundamental for many cellular and physiological functions. Congenital disorders of glycosylation (CDG) currently encompassing over 160 subtypes, are characterized by glycan synthesis and/or processing defects. Despite the increasing number of CDG patients, therapeutic options remain very limited as our knowledge on glycan synthesis is fragmented.
View Article and Find Full Text PDFClinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study.
Ann Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Purpose: To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.
Methods: We retrospectively analyzed 444 patients diagnosed with childhood-onset CPHD at a tertiary center between 1994 and 2021. After excluding acquired case, 43 patients with cCPHD were enrolled.
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