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Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFNationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
BMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDFHow To Improve Patient Selection in Individuals With Lower Extremity Amputation Using a Bone-anchored Prosthesis.
Clin Orthop Relat Res
January 2025
Department of Rehabilitation, Radboud University Medical Center, Nijmegen, the Netherlands.
Background: Many patients with a lower limb socket-suspended prothesis experience socket-related problems, such as pain, chronic skin conditions, and mechanical problems, and as a result, health-related quality of life (HRQoL) is often negatively affected. A bone-anchored prosthesis can overcome these problems and improve HRQoL, but these prostheses have potential downsides as well. A valid and reliable tool to assess potential candidates for surgery concerning a favorable risk-benefit ratio between potential complications related to bone-anchored prostheses and improvements in HRQoL is not available yet.
View Article and Find Full Text PDFA national survey on Thai medical students' attitudes towards abortion and their confidence in providing abortion services following the amendment to abortion law.
Eur J Obstet Gynecol Reprod Biol X
March 2025
Department of Obstetrics and Gynecology, Faculty of Medicine, Khon Kaen University, Thailand.
Objectives: This study aimed to evaluate medical students' attitudes towards abortion and their confidence in providing abortion services in the future.
Material And Methods: A national cross-sectional online survey was conducted among fifth and sixth-year medical students from 10 Thai universities. A self-administered questionnaire assessed their knowledge, attitudes, and confidence regarding abortion services.
Surgical treatment of anomalous aortic origin of the coronary artery in paediatric patients: a Chinese single-center experience.
BMC Surg
January 2025
Department of Cardiothoracic Surgery, Heart Center, School of Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University, Shanghai, China.
Purpose: An anomalous aortic origin of the coronary artery (AAOCA) is a rare congenital heart disease. Some high-risk anatomical structures are at risk of inducing cardiogenic shock or even sudden death. This article summarizes our surgical experience with AAOCA in paediatric patients.
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