Introduction And Importance: Partially anomalous pulmonary venous connection (PAPVC) is a rare congenital heart disease, often concomitant with atrial septal defects (ASDs). PAPVC usually tends to be treated by surgery, but the case we report will open up new perspectives for the interventional treatment of PAPVC present with ASD.
Case Presentation: We present a case of a 2-year-old 11 kg boy transthoracic echocardiography showed secundum-type ASD.
J Trop Pediatr
September 2023
Coronavirus disease 2019 (COVID-19) has become a significant global public health problem. Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), which causes the disease, utilizes angiotensin-converting enzyme II (ACE2) as a major functional receptor to enter host cells. No study has systematically assessed ACE2 expression in multiple tissues in children.
View Article and Find Full Text PDFIntroduction: To investigate the clinical characteristics and disease outcomes of a pedigree with compound heterozygous mutations in the gene.
Methods: Serum acylcarnitine profiles of patients were analyzed using tandem mass spectrometry. DNA samples isolated from patients and their first-degree relatives were subjected to high-throughput sequencing, and mutations were validated using Sanger sequencing.
Introduction: Blood samples are the most common biospecimen in biobanks, and RNA from such blood samples is an important material for biomedical research. High-quality RNA is essential for consistent, reliable results. Preanalytical environmental conditions can affect the quality of blood RNA.
View Article and Find Full Text PDFThe subject of the study is an 11-month old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency, including developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid and methylmalonic acid. Whole genome sequencing (WGS) revealed a novel heterozygous nonsense mutation (c.672delG, p.
View Article and Find Full Text PDFObjectives: Interleukin-10 (IL-10) has been suggested as a biomarker of disease activity in patients with adult-onset Still's disease (AOSD). In this study, we evaluated the serum IL-10 levels and investigated its clinical relevance in systemic-onset juvenile idiopathic arthritis (SoJIA).
Methods: IL-10 levels were determined in 21 patients diagnosed with SoJIA and 35 patients with fever diseases which were suspected as SoJIA, and IL-10 levels were compared between SoJIA patients with regard to disease activity, disease courses, and other biomarkers.
Braz J Med Biol Res
January 2021
This study aimed to examine and summarize clinical characteristics of Kawasaki disease (KD) at different ages to further strengthen clinicians understanding of children with KD, improving the level of diagnosis, and reducing coronary artery complications of KD. A total of 398 patients with KD who were diagnosed between January 2016 and December 2017 were reviewed retrospectively. These participants were allocated into three groups according to age: group A (<1 year, n=62), group B (≥1 and <5 years, n=286), and group C (≥5 years, n=50).
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2018
Objective: To detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome.
Methods: Clinical data of the patient was collected. The analysis included history taking, clinical examination and genetic testing.
Diabetic kidney disease (DKD) is a widespread chronic microvascular complication of diabetes mellitus (DM), affects almost 30-50% of patients, and represents a leading cause of death of DM. Serotonin or 5-hydroxytryptamine (5-HT) is a multifunctional bioamine that has crucial roles in many physiological pathways. Recently, emerging evidence from experimental and clinical studies has demonstrated that 5-HT is involved in the pathogenesis of diabetic vascular complications.
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