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Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Proc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFPreparation and characterization of a rat uterine decellularized scaffold.
Gland Surg
December 2024
Department of Gynecology, Wenzhou People's Hospital, Wenzhou, China.
Background: Infertility is a special reproductive health defect. For women, congenital uterine malformations, extensive adhesions in the uterine cavity, and hysterectomy are associated with infertility. Uterine transplantation is technically feasible, but its clinical application and development are limited by donor shortages and immune rejection.
View Article and Find Full Text PDFDuplication of the gallbladder: An intraoperative finding during laparoscopic cholecystectomy.
Int J Surg Case Rep
January 2025
University Surgical Unit, National Hospital of Sri Lanka, Colombo, Sri Lanka.
Introduction: Duplication of the gallbladder is a rare congenital malformation associated with the development of cholelithiasis. It increases the risk of iatrogenic bile duct injury during cholecystectomy and can lead to symptom recurrence if missed. Although preoperative imaging is helpful, detection rates are around 50 %.
View Article and Find Full Text PDFInherited or Immunological Thrombocytopenia: The Complex Nature of Platelet Disorders in 22q11.2 Deletion Syndrome.
Semin Thromb Hemost
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Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
22q11.2 deletion syndrome (22q11.2DS) is one of the most common congenital malformation syndromes resulting from disrupted embryonic development of pharyngeal pouches.
View Article and Find Full Text PDFTranscriptional Changes Associated with Amyoplasia.
Int J Mol Sci
December 2024
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre "Kurchatov Institute", Gatchina 188300, Russia.
Arthrogryposis, which represents a group of congenital disorders, includes various forms. One such form is amyoplasia, which most commonly presents in a sporadic form in addition to distal forms, among which hereditary cases may occur. This condition is characterized by limited joint mobility and muscle weakness, leading to limb deformities and various clinical manifestations.
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