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[Risk factors and new progress in prevention and control of cardiovascular health in children].
Zhonghua Er Ke Za Zhi
March 2025
Heart Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai Key Laboratory of Birth Defects, Research Unit of Early Intervention of Genetically Related Childhood Cardiovascular Diseases, Chinese Academy of Medical Sciences, Shanghai 201102, China.
[Analysis of a Chinese pedigree with hereditary spherocytosis caused by intron variation of SPTB gene].
Zhonghua Er Ke Za Zhi
March 2025
Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China.
To analyze a novel intronic variant in the SPTB gene and explore its effect on SPTB mRNA splicing. Clinical data of a child diagnosed with hereditary spherocytosis (HS) and admitted to the First Affiliated Hospital of Xi'an Jiaotong University in February 2022 were analyzed retrospectively. Whole genome sequencing was used to identify disease-causing mutations and the results were validated with Sanger sequencing, mRNA sequencing was used to determine the SPTB gene's mRNA expression level, and bioinformatics tools were used for splicing site prediction and analysis.
View Article and Find Full Text PDFComparative analysis of mortality patterns and treatment strategies in thalassaemia and sickle cell disease patients: A 12-year study.
Br J Haematol
March 2025
Thalassemia and Sickle Cell Disease Unit, Department of Hematology, General Hospital of Larissa, Larissa, Greece.
This study examined mortality rates among 2475 patients with thalassaemia and sickle cell disease (SCD) per year over 12 years in Greece, recording 335 deaths (27.92/year), with an overall mortality rate of 1.13% per year.
View Article and Find Full Text PDFDisparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the gene.
Ophthalmic Genet
March 2025
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Introduction: In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient's age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were examined at the same age yet exhibited significantly different phenotypes.
Methods: This is a retrospective case report.
Stigma by association revealed in a survey conducted among UNAFAM members.
Encephale
March 2025
Hôpitaux pédiatriques de Nice, CHU Lenval, 57, avenue de la Californie, 06200 Nice, France.
Background: Stigma by association (also known as secondary, family, or courtesy stigma) adds to public stigma and self-stigma. First described by Erwin Goffman in 1963, it affects those close to stigmatized individuals, particularly people with mental health conditions. King et al.
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