Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing / 대한배뇨장애요실금학회지

This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the expansion of human genomics. NGS technology has brought massively high throughput sequencing data to bear on research questions, enabling a new era of genomic research. Development of bioinformatic software for NGS has provided more opportunities for researchers to use various applications in genomic fields. De novo genome assembly and large scale DNA resequencing to understand genomic variations are popular genomic research tools for processing a tremendous amount of data at low cost. Studies on transcriptomes are now available, from previous-hybridization based microarray methods. Epigenetic studies are also available with NGS applications such as whole genome methylation sequencing and chromatin immunoprecipitation followed by sequencing. Human genetics has faced a new paradigm of research and medical genomics by sequencing technologies since the Human Genome Project. The trend of NGS technologies in human genomics has brought a new era of WGS by enabling the building of human genomes databases and providing appropriate human reference genomes, which is a necessary component of personalized medicine and precision medicine.

Characteristics of Respiratory Tract Infection in the Hematopoietic Stem Cell Transplantation Population / 감염

PURPOSES: The respiratory tract infection is one of the most prevalent and serious complications following hematopoietic stem cell transplantation (HSCT). Reports not only for the respiratory tract infection but, unlikely for bacteria or fungi, for the infections caused by the respiratory viruses have been rarely reported in Korea. During the winter of 2000~2001, authors wanted to know the prevalence rate of the respiratory tract infection and the kinds of causative microorganisms, especially the community respiratory viruses (CRV). Based on these data, we attempted to evaluate the clinical courses and prognosis of the patients. METHODS: From October 2000 to February 2001, specimens were collected from the patients who visited Catholic hemopoietic stem cell transplantation center, showing symptoms and signs of respiratory tract infection after HSCT. Standard methods have been applied to isolate and identify bacterial and fungal species. Measles was diagnosed based on the typical symptoms, rash, fever, and Koplik spot. For the four different CRV (adenovirus, RSV, influenza virus, parainfluenza virus), multiplex PCR and conventional culture method were used for the identification. RESULTS: Eighty-four specimens were collected from 66 patients for 4 month period. Average age of patients was 35+/-8 years. Sixty patients (90%) were received allogeneic HSCT. Sample collection was performed between 10 and 3,740 days (average 370 days, median 215 days) after HSCT. Forty-seven patients (71.2%) have been received immunosuppressants at the time of respiratory tract infection. Forty patients (60.6 %) were suffered lower respiratory tract infection and forty-four patients (66.7%) had community-acquired infection. Sixty microorganisms were identified from 45 patients out of total 66 patients. Identified microoganisms were bacteria accounting for 2 cases (3.4%), fungi for 11 (18.3%), tuberculosis for 5 (8.3%), and viruses for 42 (70.0%). Among viruses, 16 cases were measles (39%), 14 adenovirus (33%), 9 cytomegalovirus (21%), 2 parainfluenza virus (5%), 1 was influenza virus (2%). However, no RSV was identified. Most of patients showed good prognosis without any complications. Ten (15.2%) out of total 66 patients were expired. The direct cause of death for all 8 among 10 patients was pneumonia. CONCLUSION: Of the respiratory tract infection fol-lowing HSCT, most common causative microorganisms were viruses - measles, adenovirus in order. No case of RSV infection was found. No epidemic must be occurred by influenza virus because only 1 case was found. Fourteen patients were infected by more than one microorganisms. Overall mortality rate was 15.2%. This study is still undergoing and once accumulated data for more than 1 year, it might be possible to work out a strategies of treatment and prevention for respiratory tract infections. We also expect that these data might be able to provide the basis of efficient infection control in HSCT unit.

Human Herpes Virus-6 Meningoencephalitis Following Allogeneic Hematopoietic Stem Cell Transplantation / 감염

Two cases of human herpesvirus-6 (HHV-6) encephalitis that occurred after allogeneic hematopoietic stem cell transplant (HSCT) are presented. Both patients reported fever, skin rashes, and neurological symptoms, characterized by disorientation, confusion and drowsy mental status. HHV-6B DNA was detected from the cerebrospinal fluid (CSF) specimens by a multiplex polymerase chain reaction (PCR) assay including EBV, CMV, HHV-6B. After treatment with intravenous gan ciclovir for 2~3 weeks, all clinical manifestations were resolved and the HHV-6B DNA was cleared from the CSF in both patients. HHV-6 should be considered as a possible cause of neurological symptoms after HSCT, and prompt antiviral treatment should be begun.

Cotrel-Dubousset Instrumentation in Lumbar Spine Disorders Associated with Instability / 대한정형외과학회잡지

In the surgical trestment of unstable Iumbar spinal disorders, various methods of instrumentstion have been used for stabilization of spine, correction of deformity and reduction of fracture, despite of their technical demands. This paper reports the results of 30 patients of Cotrel-Dubousset instrumentation and posterolateral fusion for the lumbar spinal disorders associated with instability. The results obtained were as follows:l. Of the 30 cases, males were 15 cases(50%), females were 15 cases(50%) and average age of the patients was 42 yesrs ranging from 16 to 65 years. 2. Types of the disorders were spondylolisthesis in 16, failed back syndrome in 6, spondylolysis in 2, spinal canal stenosis in 2, scoliosis associated with degenerative spondylitis in 2, and burst fracture in 2 cases. 3. Among the 28 cases, 11 cases were excellent and 14 cases were good in Steffee's criteria (2 cases of burst fractures were excluded). 4. In spondylolisthesis, the average percentage of slippage was changed from 20% preoperatively to 5% postoperatively and 5.2% at the final follow-up. The initial correction rate was 75% and the loss of correction was not significant in follow-up study. 5. The patients with neurological claudication were permitted ambulation from postoperative 3rd day. In the final follow-up, the 8 patients(80%) could walk for more than 1 hour without pain. 6. The complications were relatively few(3 cases of hematoma, 2 cases of marginal sloughing of skin with superficial infection and one case of transient dysuria). In this study, this method seemed to be superior to others for the treatment of lumbar spinal disorders associated with instability especially degenerative spinal disorders in the respect of stability. Simultaneously, it provides immediate postoperative rehabilitation without rigid external support.