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Evaluation of the QuantaMatrix Multiplexed Assay Platform for Molecular Diagnosis of Multidrug- and Extensively Drug-Resistant Tuberculosis Using Clinical Strains Isolated in Myanmar

Chang Y, Kim S, Kim Y, Ei PW, Hwang D, Lee J, Chang CL, Lee H

BACKGROUND: Although the incidence of tuberculosis (TB) is decreasing, cases of multidrug-resistant (MDR) TB and extensively drug-resistant (XDR) TB continue to increase. As conventional phenotype drug susceptibility testing (pDST) takes...
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Two New Species and a New Chinese Record of Hypocreaceae as Evidenced by Morphological and Molecular Data

Zeng ZQ, Zhuang WY

To explore species diversity of Hypocreaceae, collections from Guangdong, Hubei, and Tibet of China were examined and two new species and a new Chinese record were discovered. Morphological characteristics and...
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Acanthamoeba in Southeast Asia – Overview and Challenges

Bunsuwansakul C, Mahboob T, Hounkong K, Laohaprapanon S, Chitapornpan S, Jawjit S, Yasiri A, Barusrux S, Bunluepuech K, Sawangjaroen N, Salibay CC, Kaewjai C, de Lourdes Pereira M, Nissapatorn V

Acanthamoeba, one of free-living amoebae (FLA), remains a high risk of direct contact with this protozoan parasite which is ubiquitous in nature and man-made environment. This pathogenic FLA can cause...
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Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients

Kang HJ, Hong SA, Oh SH, Kim KM, Yoo HW, Kim GH, Yu E

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive liver diseases that present as neonatal cholestasis. Little is known of this disease in Korea. METHODS: The records...
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Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of...
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Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage, whole-genome sequencing

Kang M, Cho E, Jang J, Lee J, Jeon Y, Jeong BC, Seo SI, Jeon SS, Lee HM, Choi HY, Jeon HG

PURPOSE: To analyze the characteristics of somatic mutations and copy number alterations (CNAs) in Korean patients with advanced prostate cancer (PCa) by use of the Oncomine Comprehensive Panel (ThermoFisher Scientific)...
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Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea

Kim Y, Yang YS, Park SS, Kim MJ, Shin CM, Choi SH

Congenital analbuminemia (CAA) is an autosomal recessive disease characterized by extremely low serum levels of albumin. CAA is caused by various homozygous or heterozygous mutations of the ALB gene. Patients...
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A Case of Deep Cutaneous Purpureocillium lilacinum Fungal Infection in an Immunocompetent Patient

Kim H, Cho GJ, Kim JU, Jin WJ, Park SH, Moon SH, Seol JE, Shin JH

Purpureocillium is a genus of saprophytic fungi that is commonly found in soil or rotting material. Although rarely a pathogen in humans, it can cause serious infections in immunocompromized patients....
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Report of the Korean Association of External Quality Assessment Service on Clinical Mycobacteriology (2017–2018)

Shin S, Hong SH

Rapid and correct diagnosis is essential for national tuberculosis (TB) control. A greater national concern for quality control (QC) of Mycobacterium tuberculosis (MTB) testing is required to improve the proficiency...
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Survey of Rickettsia spp. and Orientia tsutsugamushi Pathogens Found in Animal Vectors (Ticks, Fleas, Chiggers) in Bangkaew District, Phatthalung Province, Thailand

Sanprick A, Yooyen T, Rodkvamtook W

Rickettsial infections (Rickettsioses) are the causes of acute fever found in Thailand. It is classified as acute febrile illnesses transmitted by bloodsucking arthropod vectors (tick, flea, and chigger). This research...
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Statistical Analysis of Metagenomics Data

Calle ML

Understanding the role of the microbiome in human health and how it can be modulated is becoming increasingly relevant for preventive medicine and for the medical management of chronic diseases....
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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Identification of Candida Species Using 26S Ribosomal RNA Gene Sequencing in Patients with Periodontitis

Al-Dabbagh NN, Al-Janabi , Al-Shuhaib MBS

The infection with Candida spp. for oral cavity is being increasingly reported. However, its variations have not yet been specifically described in periodontitis. The present study was conducted to use...
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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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The First Acanthamoeba keratitis Case of Non-Contact Lens Wearer with HIV Infection in Thailand

Tananuvat , Techajongjintana N, Somboon P, Wannasan A

Acanthamoeba keratitis (AK) is a rare sight-threatening corneal infection, often reporting from contact lens wearers. An asymptomatic human immunodeficiency virus (HIV)-infected Thai male without history of contact lens use complained...
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Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

Shim JO, Yang HR, Moon JS, Chang JY, Ko JS, Park SS, Seo JK

BACKGROUND: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful...
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Utility of BRAF VE1 Immunohistochemistry as a Screening Tool for Colorectal Cancer Harboring BRAF V600E Mutation

Kwon JH, Jeong BK, Yoon YS, Yu CS, Kim J

BACKGROUND: BRAF mutation has been recognized as an important biomarker of colorectal cancer (CRC) for targeted therapy and prognosis prediction. However, sequencing for every CRC case is not cost-effective. An...
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Correlations of Four Genetic Single Nucleotide Polymorphisms in Brain-Derived Neurotrophic Factor with Posttraumatic Stress Disorder

Guo JC, Yang YJ, Guo M, Wang XD, Juan Y, Gao YS, Fu LQ, Jiang XL, Fu LM, Huang T

OBJECTIVE: To investigate the correlations of four genetic single nucleotide polymorphisms (SNPs) of brain-derived neurotrophic factor (BDNF) with posttraumatic stress disorder (PTSD). METHODS: A total of 300 patients with sporadic PTSD...
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Mitochondrial 10398A>G NADH-Dehydrogenase Subunit 3 of Complex I Is Frequently Altered in Intra-Axial Brain Tumors in Malaysia

Mohamed Yusoff AA, Zulfakhar , Mohd Khair SZN, Wan Abdullah WS, Abdullah J, Idris Z

BACKGROUND: Mitochondria are major cellular sources of reactive oxygen species (ROS) generation which can induce mitochondrial DNA damage and lead to carcinogenesis. The mitochondrial 10398A>G alteration in NADH-dehydrogenase subunit 3...
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Fungal Keratitis Caused by Corynespora cassiicola, a Plant Pathogen

Chung SR, Lee HS, You IC

A 74-year-old man presented with pain and progressively worsening vision from 20 days ago in the left eye. His ophthalmological history was significant for cataract extraction, scleromalacia, and three surgeries...
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