Background: Phenome-wide association studies (PheWASs) have been conducted on Asian populations, including Koreans, but many were based on chip or exome genotyping data. Such studies have limitations regarding whole genome-wide association analysis, making it crucial to have genome-to-phenome association information with the largest possible whole genome and matched phenome data to conduct further population-genome studies and develop health care services based on population genomics.
Results: Here, we present 4,157 whole genome sequences (Korea4K) coupled with 107 health check-up parameters as the largest genomic resource of the Korean Genome Project.
Aortic dissection is caused by a tear on the aortic wall that allows blood to flow through the wall layers. Usually, this tear involves the intimal and partly the medial layer of the aortic wall. As a result, a new false lumen develops besides the original aorta, denoted then as the true lumen.
View Article and Find Full Text PDFMol Cell Probes
December 2022
Ovarian cancer is the deadliest gynecological cancer. 70% of the cases are diagnosed at late stages with already developed metastases due to the absence of easily noticeable symptoms. Early-stage ovarian cancer has a good prognosis with a 5-year survival rate reaching 95%, hence the identification of effective biomarkers for early diagnosis is important.
View Article and Find Full Text PDFFamilial Mediterranean fever is a common autoinflammatory disease characterized by periodic attacks of fever and serositis. There are few reports describing neurological symptoms in patients with FMF. The aim of this study was to systematically assess the neurologic and developmental involvement in pediatric patients with FMF.
View Article and Find Full Text PDFImpedance cardiography (ICG) is a non-invasive method to evaluate several cardiodynamic parameters by measuring the cardiac-synchronous changes in the dynamic transthoracic electrical impedance. ICG allows us to identify and quantify conductivity changes inside the thorax by measuring the impedance on the thorax during a cardiac cycle. Pathologic changes in the aorta, like aortic dissection, will alter the aortic shape as well as the blood flow and consequently, the impedance cardiogram.
View Article and Find Full Text PDFOne of the longest human microRNA (miRNA) clusters is located on chromosome 19 (C19MC), containing 46 miRNA genes, which were considered to be expressed simultaneously and at similar levels from a common long noncoding transcript. Investigating the two tissue types where C19MC is exclusively expressed, we could show that there is a tissue-specific and chromosomal position-dependent decrease in mature miRNA levels towards the 3' end of the cluster in embryonic stem cells but not in placenta. Although C19MC transcription level is significantly lower in stem cells, this gradual decrease is not present at the primary miRNA levels, indicating that a difference in posttranscriptional processing could explain this observation.
View Article and Find Full Text PDFIntroduction: microRNAs (miRNAs) play important role in the regulation of placental development, and abnormal miRNA expression is associated with preeclampsia (PE). miRNAs are released from trophoblast cells to maternal blood flow, where they are highly stable, being encapsulated inside extracellular vesicles, like exosomes or bound to Argonaute proteins. In PE, placental dysfunction leads to aberrant extracellular miRNA secretion.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
March 2020
Congenital heart disease (CHD) is the most common fetal malformation. Prenatal ultrasonography is routinely applied for the screening of CHD but many factors influence its diagnostic accuracy. The introduction of new biomarkers could facilitate the identification of high-risk pregnancies.
View Article and Find Full Text PDFCardiovascular diseases (CVDs) are the main cause of human morbidity and mortality worldwide. Early diagnosis could improve the efficiency of treatments. New biomarkers are needed for the identification of high-risk populations in order to make accurate diagnosis and therapy monitoring.
View Article and Find Full Text PDFLiquid biopsy is becoming a very popular sample obtaining procedure, replacing the invasive sampling methods for the diagnostic protocols. The advantages of this method include the possibility to isolate cell-free nucleic acids (cfNAs) for diagnostic or screening purposes. A comprehensive review combining all current and perspective applications of cell-free nucleic acids is missing.
View Article and Find Full Text PDFPreeclampsia is the leading cause of maternal and fetal morbidity and mortality that affects 3-8% of pregnancies worldwide. Its main symptoms include new onset of high blood pressure and proteinuria after 20 weeks of pregnancy. The cause of the disease is still debated.
View Article and Find Full Text PDFIntroduction: Hypertension is a common complication during pregnancy, affecting 10% of pregnant women worldwide. Several microRNA (miRNA) were shown to be involved in hypertensive disorders of pregnancy. In preeclampsia (PE), placental dysfunction causes the enhanced release of extracellular vesicle-derived miRNAs.
View Article and Find Full Text PDFNeural progenitor cells (NPCs) from human induced pluripotent stem cells (hiPSCs) are frequently induced using 3D culture methodologies however, it is unknown whether spheroid-based (3D) neural induction is actually superior to monolayer (2D) neural induction. Our aim was to compare the efficiency of 2D induction with 3D induction method in their ability to generate NPCs, and subsequently neurons and astrocytes. Neural differentiation was analysed at the protein level qualitatively by immunocytochemistry and quantitatively by flow cytometry for NPC (SOX1, PAX6, NESTIN), neuronal (MAP2, TUBB3), cortical layer (TBR1, CUX1) and glial markers (SOX9, GFAP, AQP4).
View Article and Find Full Text PDFHypertens Pregnancy
February 2017
Background: Preeclampsia (PE) is the major cause of maternal and fetal morbidity and mortality, affecting 3-8% of all pregnancies around the globe. miRNAs are small, noncoding RNA molecules, which negatively regulate gene expression. Abnormally expressed miRNAs contribute to pregnancy complications such as PE.
View Article and Find Full Text PDFObjectives: The aims of this study were to test the utility of benchtop NGS platforms for NIPT for trisomy 21 using previously published z score calculation methods and to optimize the sample preparation and data analysis with use of in silico and physical size selection methods.
Methods: Samples from 130 pregnant women were analyzed by whole genome sequencing on benchtop NGS systems Ion Torrent PGM and MiSeq. The targeted yield of 3 million raw reads on each platform was used for z score calculation.
The current standard for prenatal screening is mostly based on biochemical marker tests and the use of ultrasonography. There is no secure stand-alone screening marker for congenital heart defects (CHDs). MicroRNAs (miRNAs) that are associated with cardiogenesis enter the maternal peripheral bloodstream during pregnancy and allow non-invasive prenatal testing (NIPT).
View Article and Find Full Text PDFAn efficient finite element method to take account of the nonlinearity of the magnetic materials when analyzing three-dimensional eddy current problems is presented in this paper. The problem is formulated in terms of vector and scalar potentials approximated by edge and node based finite element basis functions. The application of Galerkin techniques leads to a large, nonlinear system of ordinary differential equations in the time domain.
View Article and Find Full Text PDFPlanar gradiometers (PGRAD) have particular advantages compared to solenoid receiver coils in magnetic induction tomography (MIT) for biological objects. A careful analysis of the sensitivity maps has to be carried out for perturbations within conducting objects in order to understand the performance of a PGRAD system and the corresponding implications for the inverse problem of MIT. We calculated and measured sensitivity maps for a single MIT-channel and a cylindrical tank (diameter 200 mm) with a spherical perturbation (diameter 50 mm) and with conductivities in the physiological range (0.
View Article and Find Full Text PDFBerl Munch Tierarztl Wochenschr
February 2000
In an eastern european pig productions unit with high prevalence of suckling piglets diarrhoea during late lactation the following trial was conducted: The sows were assigned to an experimental and to a control group and were treated as follows: Group one (15 sows) were vaccinated with a single 2 ml dose of Porcovac Plus (Höchst Roussel Vet.) during their late pregnancy (gilts were vaccinated twice). Booster vaccination was performed between day 2-7 p.
View Article and Find Full Text PDFBerl Munch Tierarztl Wochenschr
September 1998
The ongoing trend towards SEW has arrived the eastern European countries as well. In order to examine the effect of 17 days weaning on production in a large pig production unit there were the following evaluations, carried out in the following steps: Step one: Two groups of sows were randomly formed before weaning: Group one (90 sows) were weaned at day 21 of lactation. Group two (109 sows) were weaned at day 17 of lactation.
View Article and Find Full Text PDFIn an industrial pig productions unit the weaned piglets of 20 sows were assigned to two Groups. The Groups were treated as follows: Group one (99 piglets of 10 sows): the pigs were kept in the same pen of the unit from birth until slaughter and received no prophylactic medication. If illness occurred, only the individual pig was treated.
View Article and Find Full Text PDFBerl Munch Tierarztl Wochenschr
September 1997
Periparturient biotechniques with prednisolon are widely used in Europe for the prevention of perinatal losses in intensive pig production. However, the routinely applied 100 mg prednisolon on the 113th day of pregnancy to the sow are not without controversy. In four intensive pig production units altogether 2143 sows treated thus were subjected to the evaluation of the following parameters: A: the presence or absence of vulvar discharge at the 110th day of pregnancy B: postparturient disease of the sow C: early postnatal piglet losses The results showed that the sows having prepartal vulvar discharge developed after prednisolon application significantly (p < 0.
View Article and Find Full Text PDFThe treatment of the "prostate syndrome" is a great challenge for the practicing veterinarian. In the present paper the therapeutic approach of this syndrome will be evaluated. 58 older dogs showing this syndrome were castrated and received thereafter oral antibiotic therapy.
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