• Childhood Kidney Diseases
• /
• v.26 no.1
• /
• pp.40-45
• /
• 2022

Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

• Proceedings of the KIEE Conference
• /
• 2015.07a
• /
• pp.655-656
• /
• 2015

In this paper, diagnosis for 85 high voltage induction motors which have operated for more than 20 years in 18 wide area water supply offices were applied and the results of diagnosis were analysed. Furthermore, main factors that would be affecting rotor defects were selected and correlations between dependent variables which was magnitude for sideband frequency on current during operation and independent variables such as starting characteristic, operating time, number of operation, load factor, maker, rotation speed, capacity were analysed. It was clear that factors including starting characteristic, number of operation, maker, rotation speed caused break by correlation analysis. From this, regression equation was deduced through regression analysis. Based on suggested regression equation, it is applied usefully that we can estimate the condition of rotor without onsite diagnosis and plan the schedule of diagnosis.

• Journal of Mechanical Science and Technology
• /
• v.18 no.12
• /
• pp.2174-2181
• /
• 2004

The metal processing system usually consists of various components such as motors, work rolls, backup rolls, idle rolls, sensors, etc. Even a simple fault in a single component in the system may cause a serious damage on the final product. It is, therefore, necessary to diagnose the faults of the components to detect and prevent a system failure. Especially, the defects in a work roll are critical to the quality of strip. In this study, a new 3-D diagnosis method was developed for roll shape defects in rolling processes. The new method was induced from analyzing the rolling mechanism by using a rolling force model, a tension model, the Hitchcock's equation, and measurement of the strip thickness, etc. Computer simulation shows that the proposed method is very useful in the diagnosis of the 3-D roll shape.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.5 no.1
• /
• pp.94-107
• /
• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

• Journal of the Korean Society of Safety
• /
• v.20 no.3 s.71
• /
• pp.1-8
• /
• 2005

The industrial induction motor is widely used in the rotating electrical machine for the transmission of power. It is very reliable equipment, but it could lead to the loss of production and lift when failure occurs. Therefore, the failure data is acquired and analyzed by attaching an exclusive instrument to existing induction motor. However, these instruments could lead to side effects, increasing the production costs, because they are very expensive. The purpose of this study is the development of an induction motor bearing failure diagnosis system constructed using LabVIEW which can be supplied the kernelled function, process monitoring and current signature analysis. In addition, the availability and reasonability of the constructed system was examined for an induction motor with failure defects in outer raceway and ball bearing. From the results, it shows that failure diagnosis system constructed is useful for real-time monitoring with detection of bearing defects over the web.

• Clinical and Experimental Pediatrics
• /
• v.53 no.6
• /
• pp.669-679
• /
• 2010

The risk of mortality and morbidity of patients with congenital heart defects (CHDs) is highest during neonatal period and increases when diagnosis and proper management are delayed. Neonates with critical CHDs may present with severe cyanosis, respiratory distress, shock, or collapse, all of which are also frequent clinical presentations of various respiratory problems or sepsis in the newborn. Early diagnosis and stabilization and timely referral to a tertiary cardiac center are crucial to improve the outcomes in neonates with CHDs. In this review, the clinical presentation of critical and potentially life-threatening CHDs is discussed along with brief case reviews to help understand the hemodynamics of these defects and ensure proper decision-making in critically ill patients.

• Journal of Genetic Medicine
• /
• v.5 no.1
• /
• pp.1-6
• /
• 2008

Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician can make predictions about prognosis, recommend management options, and provide an indication of recurrence risk for the parents and relatives. In this paper, we first review the basic mechanisms of embryological development and clinical dysmorphology. We then review cellular and molecular mechanisms in development and related congenital anomalies. Developmental anomalies have a major impact on public health. Genetic counseling and prenatal diagnosis, with the option to continue or to terminate a pregnancy, are important for helping families faced with the risk of a serious congenital anomaly in their offspring. Moreover, primary prevention of birth defects, for example, supplementation of prenatal folic acid and prevention of consumption of alcohol which has teratogenic effects, can be accomplished using developmental biology knowledge.

• Progress in Superconductivity
• /
• v.11 no.1
• /
• pp.13-18
• /
• 2009

Partial discharge measurements in cryogenic dielectric materials of HTS transformer are very important because partial discharge was regarded as primary source for ageing and breakdown of cryogenic materials. But, partial discharge measurement techniques and its effects in low temperature high voltage environments were not suggested and there exist only a few reports on this research fields. Therefore, in order to implement reliable HTS transformers, partial discharge diagnosis techniques for cryogenic materials of HTS transformers were investigated using partial discharge (PD) pattern analysis methods. In this works, four different types of artificial defects including turn to turn insulation, free moving particle, void and protrusion, have been fabricated since it was commonly regarded that they might cause the sudden service failures of the power apparatus. For this purpose, these defects are installed into the dielectric materials in liquid nitrogen and experimental investigations have been carried out for the diagnosis of HTS transformer. And various PD patterns caused by the amount of quench of superconductors were analyzed. Throughout this works, the different PD patterns in cryogenic dielectric materials in liquid nitrogen, and PD measuring technique could be the fundamental steps to establish diagnosis technologies of HTS transformer for power applications.

• The Transactions of the Korean Institute of Electrical Engineers C
• /
• v.55 no.6
• /
• pp.308-312
• /
• 2006

Partial Discharge (PD) phenomena occurred by different nature of insulating defects has been regarded as a random process by which Phase Resolved Partial Discharge Analysis(PRPDA) has been proposed and then commercially accepted for the diagnosis of the power apparatus since more than three decades. Moreover, for the same purpose, a novel approach based on the Chaotic Analysis(CAPD) has been proposed since 2000, in which Partial Discharge(PD) phenomena is suggested to be considered as a deterministic dynamical process. In this work, for the diagnosis of Gas Insulated Transformer(GITr), four different types of specimen were fabricated as a model of the possible defects that might possibly cause its sudden failures such as turn to turn insulation, inter coil insulation, free moving particle and protrusion. For this purpose, these defects are introduced into the Gas Insulated Transformer(GITr) mock-up and experimental investigations have been carried out in order to analyze the related Partial Discharge(PD) patterns by means of both Phase Resolved Partial Discharge Analysis(PRPDA) and Chaotic Analysis(CAPD) respectively and then their comparisons are made systematically.

• Proceedings of the KIEE Conference
• /
• 2005.07c
• /
• pp.2060-2062
• /
• 2005

Partial Discharge (PD) phenomena occurred by different nature of insulating defects has been regarded as a random process by which Phase Resolved Partial Discharge Analysis (PRPDA) has been proposed and then commercially accepted for the diagnosis of the power apparatus since more than three decades. Moreover, for the same purpose, a novel approach based on the Chaotic Analysis(CAPD) has been proposed since 2000, in which PD phenomena is suggested to be considered as a deterministic dynamical process. In this work for the diagnosis of GITr, four different types of specimen were fabricated as a model of the possible defects that might possibly cause its sudden failures such as turn to turn insulation, inter coil insulation, free moving particle and protrusion. For this purpose, these defects are introduced into the GITr mock-up and experimental investigations have been carried out in order to analyze the related PD patterns by means of both PRPDA and CAPD respectively and then their comparisons are made systematically.