Trisomy 21 (T21), a recurrent aneuploidy occurring in 1:800 births, predisposes to congenital heart disease (CHD) and multiple extracardiac phenotypes. Despite a definitive genetic etiology, the mechanisms by which T21 perturbs development and homeostasis remain poorly understood. We compared the transcriptome of CHD tissues from 49 patients with T21 and 226 with euploid CHD (eCHD).
View Article and Find Full Text PDFThis is a prospective study on 118 patients who underwent lymphaticovenous anastomosis (LVA) due to secondary lower limb lymphedema between January 2018 and October 2020 to evaluate patients' quality of life (QOL) using the Quality of Life Measure for Limb Lymphedema (LYMQoL) questionnaire. The outcome measurement included the LYMQoL leg scoring system tool evaluating the function, appearance, symptom, mood, and overall outcome. In addition, correlation analysis was performed for three factors: based on International Society of Lymphology (ISL) stages, disease duration, and amount of volume reduction.
View Article and Find Full Text PDFBackground: Known genetic causes of congenital heart disease (CHD) explain <40% of CHD cases, and interpreting the clinical significance of variants with uncertain functional impact remains challenging. We aim to improve diagnostic classification of variants in patients with CHD by assessing the impact of noncanonical splice region variants on RNA splicing.
Methods: We tested de novo variants from trio studies of 2649 CHD probands and their parents, as well as rare (allele frequency, <2×10) variants from 4472 CHD probands in the Pediatric Cardiac Genetics Consortium through a combined computational and in vitro approach.
Circ Genom Precis Med
October 2021
Background: Heterozygous truncating variants cause 10% to 20% of idiopathic dilated cardiomyopathy (DCM). Although variants which disrupt canonical splice signals (ie, invariant dinucleotide of the splice donor site, invariant dinucleotide of the splice acceptor site) at exon-intron junctions are readily recognized as truncating variants, the effects of other nearby sequence variations on splicing and their contribution to disease is uncertain.
Methods: Rare variants of unknown significance located in the splice regions of highly expressed exons from 203 DCM cases, 3329 normal subjects, and clinical variant databases were identified.
Damaging variants cause cardiac outflow tract defects, sometimes with pancreatic and diaphragmic malformations. To define molecular mechanisms for these diverse developmental defects, we studied transcriptional and epigenetic responses to loss of function (LoF) and missense variants during cardiomyocyte differentiation of isogenic human induced pluripotent stem cells. We show that GATA6 is a pioneer factor in cardiac development, regulating that activates and that with orchestrates outflow tract formation.
View Article and Find Full Text PDFContext: Patients with decompensated cirrhosis have high rates of health care utilization at end of life (EOL). However, the impact of transplant candidacy on intensity of EOL care is currently unknown.
Objectives: To assess the relationship between transplant candidacy and intensity of EOL care in the last year of life in an ambulatory cohort of patients with decompensated cirrhosis.
We used a survey about the need for an educational training of infectious disease response staff in Korea Centers for Disease Control and Prevention (KCDC) and officer in metropolitan cities and provincial government to conduct field epidemiological investigation. The survey was conducted from January 25 to March 15, 2016. A total of 173 participants were selected from four different groups as follows: 27 clinical specialists, 22 Epidemic Intelligence Service (EIS) officers, 82 KCDC staff, and 42 local health department officials.
View Article and Find Full Text PDFA 48-year-old woman with antiphospholipid syndrome (APS) had multiple skin necrosis caused by massive bleeding and hematoma collection at the right lower leg, left thigh, and abdomen. During the first month, we did surgical debridement every 2 to 3 days with meticulous coagulation and applied negative pressure wound therapy (NPWT). Then as the base showed initial granulation, we changed the NPWT every 4 days.
View Article and Find Full Text PDFIn addition to their promise in regenerative medicine, pluripotent stem cells have proved to be faithful models of many human diseases. In particular, patient-specific stem cell-derived cardiomyocytes recapitulate key features of several life-threatening cardiac arrhythmia syndromes. For both modeling and regenerative approaches, phenotyping of stem cell-derived tissues is critical.
View Article and Find Full Text PDFKorean J Food Sci Anim Resour
January 2016
This study investigated the effect of various freezing and thawing techniques on the quality of beef. Meat samples were frozen using natural convection freezing (NF), individual quick freezing (IQF), or cryogenic freezing (CF) techniques, followed by natural convection thawing (NCT) or running water thawing (RT). The meat was frozen until the core temperature reached -12℃ and then stored at -24℃, followed by thawing until the temperature reached 5℃.
View Article and Find Full Text PDFThe immobilization of proteins on gold-coated magnetic nanoparticles and the subsequent recognition of the targeted proteins provide an effective means for the separation of proteins via application of a magnetic filed. A key challenge is the ability to fabricate such nanoparticles with the desired core-shell nanostructure. In this article, we report findings of the fabrication and characterization of gold-coated iron oxide (Fe2O3 and Fe3O4) core@shell nanoparticles (Fe oxide@Au) toward novel functional biomaterials.
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