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Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency...
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Evaluation of Multiplex Polymerase Chain Reaction Assay for the Simultaneous Detection of Sexually Transmitted Infections Using Swab Specimen

Park SH, Hwang KA, Ahn JH, Nam JH

Sexually transmitted infections (STIs) are caused by the spread of pathogens via sexual activity and can cause serious complications if left untreated, regardless of their symptoms. Therefore, early diagnosis of...
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Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome

Yoo J, Lee GD, Kim JH, Lee SN, Chae H, Han E, Kim Y, Kim M

BACKGROUND: Hereditary breast and ovarian cancer syndrome (HBOC) is caused by pathogenic variants in BRCA and other cancer-related genes. We analyzed variants in BRCA gene and other cancer-related genes in...
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Epstein-Barr Virus-related Corneal Endotheliitis Accompanied with Secondary Glaucoma

Cho YW, Kang HJ, Kim GN, Kim HA, Chung IY, Kim SJ

PURPOSE: To report a case of Epstein-Barr virus-related corneal endotheliitis accompanied by secondary glaucoma. CASE SUMMARY: A 73-year-old male presented with blurred vision in his right eye. In the ophthalmic evaluation,...
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Circulating MicroRNAs and T-Cell Cytokine Expression Are Associated With the Characteristics of Asthma Exacerbation

Wardzyńska A, Pawełczyk M, Rywaniak J, Kurowski M, Makowska J, Kowalski M

PURPOSE: Immunological mechanisms underlying asthma exacerbation have not been elucidated. The aim of this study was to assess the associations of various asthma exacerbation traits with selected serum microRNA (miRNA)...
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Single or Dual Infection with Respiratory Syncytial Virus and Human Rhinovirus: Epidemiology and Clinical Characteristics in Hospitalized Children in a Rural Area of South Korea

Kwon Y, Cho WJ, Kim HM, Lee J

PURPOSE: Respiratory syncytial virus (RSV) and human rhinovirus (hRV) are the most common causes of child respiratory viral infections. We aimed to investigate epidemiological and clinical characteristics of RSV and...
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Clinical Significance of Inflammatory Biomarkers in Acute Pediatric Diarrhea

Park Y, Son M, Jekarl DW, Choi HY, Kim SY, Lee S

PURPOSE: The aim of this study was to evaluate the clinical significance of inflammatory biomarkers in acute infectious diarrhea among children. METHODS: Clinical parameters including fever, bacterial and viral etiology based...
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Molecular Epidemiology of Human Astrovirus in Stool Samples From Patients With Acute Gastroenteritis in Korea, 2013–2017

Kim JS, Lee WJ, Lee SK, Lee EJ, Hyun J, Kim HS, Song W, Kim HS

BACKGROUND: Human astroviruses (HAstVs) are one of the major causes of acute gastroenteritis. Classic HAstVs can be classified into eight genotypes. We investigated the positive rate of HAstVs and the...
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Comparison of Multiplex Real-Time Polymerase Chain Reaction Assays for Detection of Respiratory Viruses in Nasopharyngeal Specimens

Uwizeyimana JD, Kim MK, Kim D, Byun JH, Yong D

BACKGROUND: Respiratory tract infections are major public health threats, and the identification of their causative microbes helps clinicians to initiate timely and appropriate antimicrobial therapy and prevent the secondary spread...
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Multiplex PCR analysis of virulence genes and their influence on antibiotic resistance in Enterococcus spp. isolated from broiler chicken

Song H, Bae Y, Jeon E, Kwon Y, Joh S

Enterococcus spp. are opportunistic pathogens that cause lameness in broiler chickens, resulting in serious economic losses worldwide. Virulence of Enterococcus spp. is associated with several putative virulence genes including fsr,...
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Development and Evaluation of Multiplex PCR for the Detection of Carbapenemase-Producing Enterobacteriaceae

Kim SH, Bae IK, Kim NY, Song SA, Kim S, Jeong J, Shin JH

BACKGROUND: The isolation of carbapenemase-producing Enterobacteriaceae (CPE) has become increasingly common. Continuous surveillance for these organisms is essential because their infections are closely related to outbreaks of illness and are...
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A Case of Lynch Syndrome with the Deletion of Multiple Exons of the MLH1 Gene, Detected by Next-Generation Sequencing

Hong J, Kim H, Hong YS, Lee W, Lim SB, Byeon JS, Chun S, Min WK

A 26-year-old man underwent colonoscopy to investigate weight loss and a lesion suspicious of colorectal cancer was detected. He had a family history of colorectal cancer and hepatocellular carcinoma. The...
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Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure

Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW

PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in...
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Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea

Ko DS, Lee SH, Park CW, Lim CK

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive...
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Colonization Prevalence and Risk Factor Analysis of Carbapenem-Resistant Acinetobacter baumannii in an Intensive Care Unit without Outbreaks

Kim YA, Park YS, Lee SS, Son YJ, Yeon JH, Seo YH, Lee K

BACKGROUND: Acinetobacter baumannii is a well-known etiologic agent of a variety of nosocomial infections; the resistance rate to imipenem is surprisingly high in Korea. The colonization of carbapenem-resistant A. baumannii...
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The Cefazolin Inoculum Effect and the Presence of type A blaZ Gene according to agr Genotype in Methicillin-Susceptible Staphylococcus aureus Bacteremia

Lee SO, Lee S, Park S, Lee JE, Lee SH

BACKGROUND: Recent data suggests the inoculum effect of methicillin-susceptible Staphylococcus aureus (MSSA) against beta-lactam antibiotics and their association with functionality or genotypic variation of agr locus. METHODS: MSSA blood isolates were...
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Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

Kim HJ, Kim SK, Yoo KY, Lee KO, Yun JW, Kim SH, Kim HJ, Park SK

BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD...
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Serotype Distribution and Antimicrobial Resistance of Invasive and Noninvasive Streptococcus pneumoniae Isolates in Korea between 2014 and 2016

Park DC, Kim SH, Yong D, Suh IB, Kim YR, Yi J, Song W, Song SA, Moon HW, Lee HK, Park KU, Kim S, Jeong SH, Lee J, Jeong J, Kim YK, Lee M, Cho J, Kim JW, Shin KS, Hwang SH, Chung JW, Woo HI, Lee CH, Ryoo N, Chang CL, Kim HS, Kim J, Shin JH, Kim SH, Lee MK, Lee SG, Jang SJ, Lee K, Suh H, Sohn YH, Kwon MJ, Lee HJ, Hong KH, Woo KS, Park CM, Shin JH

BACKGROUND: Several factors contribute to differences in Streptococcus pneumoniae serotype distribution. We investigated the serotype distribution and antimicrobial resistance of S. pneumoniae isolated between 2014 and 2016 in Korea. METHODS: We...
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Mycobacterium bovis Osteitis Following Immunization with Bacille Calmette-Guérin (BCG) in Korea

Choi YY, Han MS, Lee HJ, Yun KW, Shin CH, Yoo WJ, Cho TJ, Cheon JE, Park KU, Choi EH

BACKGROUND: Mycobacterium bovis Bacille Calmette-Guérin (BCG) osteitis, a rare complication of BCG vaccination, has not been well investigated in Korea. This study aimed to evaluate the clinical characteristics of BCG...
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Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia

Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S

We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not...
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