373 research outputs found
Baseline characteristics of participants enrolled in the KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD)
No full text© 2022, The Author(s), under exclusive licence to International Pediatric Nephrology Association.Background: We developed the KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD) as a subcohort of KNOW-CKD to investigate the different characteristics of pediatric CKD between countries and races. Methods: Children aged younger than 18 years with stage 1 ~ 5 CKD were recruited at seven major pediatric nephrology centers in Korea. Blood and urine samples, as well as demographic and clinical data, were collected. From 2011 to 2016, 458 children were enrolled, and the baseline profiles of 437 children were analyzed. Results: The median age of the cohort was 10.9 years old, and 68.0% were males. The median estimated glomerular filtration rate was 53.1 mL/min/1.73 m2. The most common etiology of CKD was congenital anomalies of the kidney and urinary tract (42.6%), followed by glomerulopathies (25.6%). Conclusion: We report a cross-sectional analysis of the overall baseline characteristics such as age, CKD stage, and underlying kidney disease of the KNOW-Ped CKD. The cohort will be longitudinally followed for ten years. Graphical abstract: A higher resolution version of the Graphical abstract is available as Supplementary information. [Figure not available: see fulltext.]N
Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea
No full textThe genotype–phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype–phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximately 60% developed kidney failure at the median age of 25.0years, and kidney survival showed significant differences between the non-truncating and truncating groups (P < 0.001, hazard ratio (HR) 2.8) and splicing and truncating groups (P = 0.002, HR 3.1). Sensorineural hearing loss was detected in 65.1% of male patients, while hearing survival periods showed a highly significant difference between the non-truncating and truncating groups (P < 0.001, HR 5.1). In female patients, approximately 20% developed kidney failure at the median age of 50.2years. The kidney survival was significantly different between the non-truncating and truncating groups (P = 0.006, HR 5.7). Our findings support the presence of genotype–phenotype correlation not only in male patients but also in female patients with XLAS. © 2023, The Author(s).N
표적유전자 염기서열분석을 이용한 선천성 신 요로 기형의 원인 유전자 탐색
No full text학위논문 (박사) -- 서울대학교 대학원 : 의과대학 의학과, 2020. 8. 하일수.Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. The search for genetic causes of CAKUT has led to genetic diagnosis in approximately 5–20% of CAKUT patients from Western countries. In this study, genetic causes of CAKUT in Korean children were sought using targeted exome sequencing (TES) of CAKUT-related genes. A total of 94 patients with CAKUT were recruited. We performed TES of 60 genes that had been reported to cause CAKUT in human or murine models. Copy number variations (CNVs) of targeted genes were assessed using in-house relative comparison method. Pathogenic single nucleotide variants (SNVs) and CNVs were re-confirmed by Sanger sequencing and array comparative genomic hybridization, respectively. We identified genetic causes in 13.8% of the 94 recruited patients. Pathogenic SNVs of five known disease-causing genes, HNF1B, PAX2, EYA1, UPK3A, and FRAS1 were found in 7 cases. Pathogenic CNVs of 6 patients were found in HNF1B, EYA1, and CHD1L. HNF1B mutation was the most common genetic cause and was associated with various renal phenotypes. Genetic abnormality types did not significantly differ according to CAKUT phenotypes. Patients with pathogenic variants of targeted genes had syndromic features more frequently than those without (P <0.001). Kaplan-Meier survival curves showed that the presence of genetic mutations did not affect the renal survival (Log-rank test, P =0.280). This is the first genetic analysis study of Korean patients with CAKUT. We showed that TES could provide a cost-effective means for detecting both SNV and CNV for the genetic diagnosis of CAKUT. However, only one-seventh of patients were found to have pathogenic mutations in known CAKUT-related genes, indicating that there are more CAKUT-causing genes or environmental factors to discover.선천성 신 요로 기형은 소아 만성신질환의 가장 흔한 원인으로 서구 국가에서 약 5-20%에서 유전적 원인이 밝혀졌으나 한국인에서 이에 관한 연구가 없었다. 본 연구는 표적유전자 염기서열분석을 통해 한국 소아 선천성 신 요로 기형 환자에서 유전적 원인을 찾고자 하였다. 문헌 검색을 통해 선천성 신 요로 기형의 원인 유전자로 알려진 60 개의 표적유전자를 선정하였다. 영상검사를 통해 선천성 신 요로 기형으로 진단된 환자 94명을 대상으로 표적유전자 염기서열분석을 시행하여 단일염기변이와 복제수 변이를 확인하였다. 표적유전자 염기서열분석을 통해 밝혀진 단일염기변이와 복제수 변이는 각각 생거 염기서열분석과 배열 비교 유전체 혼성화법으로 확인하였다. 94명의 환자 중 13명 (13.8%)에서 유전적 원인을 확인하였다. 7명의 환자에서는 HNF1B, PAX2, EYA1, UPK3A, FRAS1 유전자의 단일염기변이가 확인되었고 6명의 환자에서는 HNF1B, EYA1, CHD1L 유전자를 포함한 복제수 변이가 확인되었다. HNF1B 유전자 변이가 가장 흔했고 해당 유전자 변이를 가지고 있는 환자는 다양한 형태의 선천성 신 요로 기형과 신장 외 질환을 동반하였다. 유전자 이상의 종류와 선천성 신 요로 기형의 표현형은 연관성이 없었다. 증후군성 선천성 신 요로 기형 환자에서는 유전적 이상이 빈번하였다 (P <0.001). 유전자 이상 여부에 따른 신기능 생존에 차이는 없었다 (Log-rank test, P =0.280). 본 연구는 선천성 신 요로 기형 한국인 환자에서 유전자 이상을 확인한 최초의 연구이다. 선천성 신 요로 기형의 유전자 진단에서 표적유전자 염기서열분석이 단일염기변이와 복제수 변이를 모두 검출하는데 효과적인 방법일 수 있다. 선천성 신 요로 기형 관련 유전자 검사에서 환자의 7분의 1만이 병원성 변이를 갖고 있는 것으로 확인되었기 때문에 향후 밝혀지지 않은 다른 유전자 이상 또는 환경적 요인의 영향을 밝히기 위한 추가적인 연구가 향후 필요하다.Introduction 1
Methods 6
Results 15
Discussion 43
References 52
Abstract in Korean 68
Acknowledgment 70Docto
An Absent Author? Myth in Augusto Roa Bastos's Yo el Supremo
No full textThis article examines the presence of indigenous myths in Yo el Supremo (1974) by the Paraguayan novelist Augusto Roa Bastos. It identifies a number of key indigenous myths in the novel and analyses how they are represented in relation to other intertexts which have traditionally been regarded as more prestigious. It also considers how they undermine the power of el Supremo, the dictator who is the novel's protagonist. This is achieved by using Roa Bastos's concept of the texto ausente to consider how the mythic intertexts are both absent and powerful. Este artículo examina la presencia de mitos indígenas en Yo el Supremo (1974) del escritor paraguayo Augusto Roa Bastos. Identifica varios mitos indígenas clave en la novela y analiza cómo están representados en relación con otros intertextos que tradicionalmente han sido considerados más prestigiosos. También considera cómo minan el poder de El Supremo, el dictador protagonista de la novela. Esto se logra a través del uso del concepto del texto ausente de Roa Bastos para considerar cómo los intertextos míticos son a la vez ausentes y poderosos
An Absent Author? Myth in Augusto Roa Bastos's Yo el Supremo
No full textThis article examines the presence of indigenous myths in Yo el Supremo (1974) by the Paraguayan novelist Augusto Roa Bastos. It identifies a number of key indigenous myths in the novel and analyses how they are represented in relation to other intertexts which have traditionally been regarded as more prestigious. It also considers how they undermine the power of el Supremo, the dictator who is the novel's protagonist. This is achieved by using Roa Bastos's concept of the texto ausente to consider how the mythic intertexts are both absent and powerful. Este artículo examina la presencia de mitos indígenas en Yo el Supremo (1974) del escritor paraguayo Augusto Roa Bastos. Identifica varios mitos indígenas clave en la novela y analiza cómo están representados en relación con otros intertextos que tradicionalmente han sido considerados más prestigiosos. También considera cómo minan el poder de El Supremo, el dictador protagonista de la novela. Esto se logra a través del uso del concepto del texto ausente de Roa Bastos para considerar cómo los intertextos míticos son a la vez ausentes y poderosos
Figuraciones del yo en el cómic contemporáneo
No full textDepartament responsable de la tesi: Departament de Filologia Espanyola.Desde los años setenta el cómic ha dado un vuelco hacia las narrativas del yo, especialmente en las últimas dos décadas. Enmarcado en un contexto cultural que ha primado las narraciones personales, el cómic ha encontrado formas propias de narrar al autor. A partir de que los relatos del yo en el cómic han cobrado relevancia creativa y comercial, la crítica ha situado a la gran mayoría de estas obras que tiene al autor como eje discursivo bajo la marca genérica de la autobiografía. Sin embargo, en esta investigación se ha podido corroborar que muchos autores utilizan formas para narrarse que no cumplen con el paradigma de este género. En este sentido, en esta tesis se establece una tipología de las narraciones del yo en el cómic, las cuales aquí se reúnen bajo el nombre de autocómic. En primer lugar, se realiza un trazado histórico de este archigénero a través de tres tradiciones: la estadounidense, la franco-belga y la española. Con el fin de mostrar que este fenómeno de creación en el cómic en el que el autor es personaje dentro de las viñetas tiene una trayectoria de largo recorrido y no sólo ha ocurrido en tiempos recientes. En segundo lugar, para poder establecer las categorías del autocómic, en este trabajo se plantea un modelo de análisis narratológico que permite ubicar al autor dentro de los relatos y distinguir la forma en que se estructura como narrador y como personaje. De igual modo, se plantea la distinción entre enunciados factuales y ficcionales, lo cual permite reconocer formas que no se consideraban parte de las narraciones del yo.Since the seventies the comic has turned to narratives of the self, especially in the last two decades. Framed in a cultural context in which live-writing, and other forms of narrating the self, dominate artistic creation, the comic has found different ways of representing the author. Since life-writing in comics has gained creative and commercial significance, critics have placed the great majority of these works under the generic mark of the autobiography. However, in this study I have shown that many authors use narrative forms that do not fulfill the paradigm of the genre. In this sense, this thesis establishes a typology of the narratives of the self in comics, which are grouped under the name of autocomic. In the first place, this work provides a historical tracing of this archigenre through three traditions: the American, the French-Belgian and the Spanish, in order to show that this phenomenon of creation in comics has a long trajectory and has not only occurred in recent times. Secondly, in order to establish categories of the autocomic, in this work I propose a narratological model of analysis that can locate the author within the stories and distinguish the way in which it is structured as a narrator and as a character. In the same way, a distinction between factual and fictional statements is made, which allows for the recognition of forms that were not considered part of the narratives of the self. Finally, this works proposes a division of autocomic into five major types: autobiography, diary, documentary, autofiction and autobiographical fiction. This in order to establish parameters that enable detailed analysis of the different ways in which the author acts in the comic either in the factual or the fictional discourses
Figuraciones del yo en el cómic contemporáneo
No full textDesde los años setenta el cómic ha dado un vuelco hacia las narrativas del yo, especialmente en las últimas dos décadas. Enmarcado en un contexto cultual que ha primado las narraciones personales, el cómic ha encontrado formas propias de narrar al autor. A partir de que los relatos del yo en el cómic han cobrado relevancia creativa y comercial, la crítica ha situado a la gran mayoría de estas obras que tiene al autor como eje discursivo bajo la marca genérica de la autobiografía. Sin embargo, en esta investigación se ha podido corroborar que muchos autores utilizan formas para narrarse que no cumplen con el paradigma de este género.
En este sentido, en esta tesis se establece una tipología de las narraciones del yo en el cómic, las cuales aquí se reúnen bajo el nombre de autocómic. En primer lugar, se realiza un trazado histórico de este archigénero a través de tres tradiciones: la estadounidense, la franco-belga y la española. Con el fin de mostrar que este fenómeno de creación en el cómic en el que el autor es personaje dentro de las viñetas tiene una trayectoria de largo recorrido y no sólo ha ocurrido en tiempos recientes.
En segundo lugar, para poder establecer las categorías del autocómic, en este trabajo se plantea un modelo de análisis narratológico que permite ubicar al autor dentro de los relatos y distinguir la forma en que se estructura como narrador y como personaje. De igual modo, se plantea la distinción entre enunciados factuales y ficcionales, lo cual permite reconocer formas que no se consideraban parte de las narraciones del yo.Since the seventies the comic has turned to narratives of the self, especially in the last two decades. Framed in a cultural context in which live-writing, and other forms of narrating the self, dominate artistic creation, the comic has found different ways of representing the author. Since life-writing in comics has gained creative and commercial significance, critics have placed the great majority of these works under the generic mark of the autobiography. However, in this study I have shown that many authors use narrative forms that do not fulfill the paradigm of the genre.
In this sense, this thesis establishes a typology of the narratives of the self in comics, which are grouped under the name of autocomic. In the first place, this work provides a historical tracing of this archigenre through three traditions: the American, the French-Belgian and the Spanish, in order to show that this phenomenon of creation in comics has a long trajectory and has not only occurred in recent times.
Secondly, in order to establish categories of the autocomic, in this work I propose a narratological model of analysis that can locate the author within the stories and distinguish the way in which it is structured as a narrator and as a character. In the same way, a distinction between factual and fictional statements is made, which allows for the recognition of forms that were not considered part of the narratives of the self.
Finally, this works proposes a division of autocomic into five major types: autobiography, diary, documentary, autofiction and autobiographical fiction. This in order to establish parameters that enable detailed analysis of the different ways in which the author acts in the comic either in the factual or the fictional discourses
ASO Author Reflections: Prediction of Survival Outcomes Based on Preoperative Clinical Parameters in Gastric Cancer
No full textBK polyomavirus-associated nephropathy
No full textBK polyomavirus (BKPyV) is a ubiquitous virus residing in the kidney tubules and is clinically significant only in immunocompromised patients. In clinical practice, BKPyV is a causative pathogen of BKPyV-associated nephropathy (BKVAN) in kidney allograft recipients or hemorrhagic cystitis of hematopoietic stem cell transplant recipients. Currently, there is no effective treatment for BKVAN; therefore, careful monitoring and prudent modification of immunosuppression are necessary to prevent BKVAN. In this article, the epidemiology, pathophysiology, and current management strategies for BKVAN are reviewed
- …
