Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.

abstract：BACKGROUND:The storage temperature and time of blood gas samples collected in syringes constitute preanalytical variables that could affect blood gas or lactate concentration measurement results. We analyzed the effect of storage temperature and time delay on arterial or venous blood gas stability related to pH, partia...

journal_title：Annals of laboratory medicine

authors： Arbiol-Roca A,Imperiali CE,Dot-Bach D,Valero-Politi J,Dastis-Arias M

更新日期：2020-11-01 00:00:00

abstract：:Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genet...

journal_title：Annals of laboratory medicine

authors： Seo SH,Kim SY,Cho SI,Park H,Lee S,Choi JM,Kim MJ,Lee JS,Ahn KJ,Song MK,Bae EJ,Park SS,Seong MW

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:D-dimer is used widely as a diagnostic aid in low- and moderate-risk patients with suspected venous thromboembolism (VTE). While our laboratory utilizes VIDAS D-dimer analyzer (bioMérieux SA, France), our emergency department (ED) recently procured a D-dimer analyzer AQT90 FLEX (Radiometer Medical ApS, Denma...

journal_title：Annals of laboratory medicine

authors： Perveen S,Unwin D,Shetty AL

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:Hepatitis E virus (HEV) causes epidemics in developing countries and is primarily transmitted through the fecal-oral route. There have been recent reports on the zoonotic spread of the virus, and several animal species, primarily pigs, have been recognized as reservoirs of HEV. Because of its possible spread...

journal_title：Annals of laboratory medicine

authors： Mazalovska M,Varadinov N,Koynarski T,Minkov I,Teoharov P,Lomonossoff GP,Zahmanova G

更新日期：2017-07-01 00:00:00

abstract：:Metachromatic leukodystrophy (MLD) is an autosomal recessive disease caused by a deficiency in arylsulfatase A (ARSA). However, decreased ARSA activity is also observed in pseudodeficiency (PD). To distinguish between MLD and PD, we performed gene mutation and sulfatide analyses by using dried blood spots (DBSs) from ...

journal_title：Annals of laboratory medicine

authors： Han M,Jun SH,Lee YJ,Eun BL,Lee SJ,Seong MW,Park SS,Song SH,Park HD,Song J

更新日期：2015-07-01 00:00:00

abstract：:We aimed to observe antimicrobial resistance patterns and integron carriage of Escherichia coli isolates causing community-acquired infections. Two hundred sixty-eight E. coli strains were obtained from outpatients with various infections at different polyclinics at the 82nd Year of State Hospital in Rize, Turkey. Sus...

journal_title：Annals of laboratory medicine

authors： Copur-Cicek A,Ozgumus OB,Saral A,Sandalli C

更新日期：2014-03-01 00:00:00

abstract：BACKGROUND:False-positive fecal immunochemical test (FIT) results in the National Cancer Screening Program (NCSP) for colorectal cancer may lead to unnecessary procedures, such as colonoscopies, increasing the medical costs. We estimated reductions in the cost of National Health Insurance according to the accreditation...

journal_title：Annals of laboratory medicine

authors： Jun JK,Sung NY,Song SH,Hong S,Jang MA,Song J,Kim JH,Min WK,Lee YK

更新日期：2018-05-01 00:00:00

abstract：BACKGROUND:The bacterium Chlamydia trachomatis is one of the leading causes of sexually transmitted diseases worldwide. Since no simple and effective tool exists to diagnose C. trachomatis infections, we evaluated a novel point-of-care (POC) test, aQcare Chlamydia TRF kit, which uses europium-chelated nanoparticles and...

journal_title：Annals of laboratory medicine

authors： Ham JY,Jung J,Hwang BG,Kim WJ,Kim YS,Kim EJ,Cho MY,Hwang MS,Won DI,Suh JS

更新日期：2015-01-01 00:00:00

abstract：:Coagulase-negative staphylococci (CoNS) are reported to be the leading cause of nosocomial bloodstream infections. Staphylococcus pettenkoferi is a novel member of CoNS that was first isolated from the human blood and bursitis wound in 2002. We have reported cases of 6 S. pettenkoferi strains isolated from blood speci...

journal_title：Annals of laboratory medicine

authors： Park S,Chung HS,Lee M

更新日期：2015-03-01 00:00:00

abstract：BACKGROUND:Neutrophil gelatinase-associated lipocalin (NGAL) is a useful biomarker for acute kidney injury (AKI) prediction. However, studies on whether using both plasma NGAL (PNGAL) and urine NGAL (UNGAL) can improve AKI prediction are limited. We investigated the best approach to predict AKI in high-risk patients wh...

journal_title：Annals of laboratory medicine

authors： Yi A,Lee CH,Yun YM,Kim H,Moon HW,Hur M

更新日期：2021-01-01 00:00:00

abstract：Background:HLA-DQ typing in deceased donors is not mandatory in Korea. Therefore, when patients develop DQ antibodies after kidney transplantation (KT) from deceased donor, it is impossible to determine whether they are donor-specific antibodies (DSA). We developed DQ prediction programs for the HLA gene and evaluated ...

journal_title：Annals of laboratory medicine

authors： Kim SK,Yang JJ,Hwang SH,Sung H,Shin S,Ko SY,Oh HB

更新日期：2021-03-01 00:00:00

abstract：:The platelet-to-lymphocyte ratio (PLR) has emerged as an informative marker revealing shifts in platelet and lymphocyte counts due to acute inflammatory and prothrombotic states. PLR has been extensively examined in neoplastic diseases accompanied by immune suppression and thrombosis, which can be predicted by combine...

journal_title：Annals of laboratory medicine

authors： Gasparyan AY,Ayvazyan L,Mukanova U,Yessirkepov M,Kitas GD

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:Mutations in calreticulin (CALR) have been reported to be key markers in the molecular diagnosis of myeloid proliferative neoplasms. In most previous reports, CALR mutations were analyzed by using Sanger sequencing. Here, we report a new, rapid, and convenient system for screening CALR mutations without sequ...

journal_title：Annals of laboratory medicine

authors： Jeong JH,Lee HT,Seo JY,Seo YH,Kim KH,Kim MJ,Lee JH,Park J,Hong JS,Park PW,Ahn JY

更新日期：2016-07-01 00:00:00

abstract：:Guidelines recommend that clinical laboratories perform phenotypic tests (nitrocefin-based test and penicillin 10-U [P10] or 1-U [P1] zone edge tests) to detect penicillinase in Staphylococcus aureus isolates. This study aimed to assess the prevalence of blaZ encoding penicillinase and perform various phenotypic tests...

journal_title：Annals of laboratory medicine

authors： Takayama Y,Tanaka T,Oikawa K,Fukano N,Goto M,Takahashi T

更新日期：2018-03-01 00:00:00

abstract：BACKGROUND:A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the current NBS tests. To overcome these issues, we developed a multigene panel for IMD testing and investi...

journal_title：Annals of laboratory medicine

authors： Park KJ,Park S,Lee E,Park JH,Park JH,Park HD,Lee SY,Kim JW

更新日期：2016-11-01 00:00:00

abstract：BACKGROUND:Narcolepsy is a neurologic disorder characterized by excessive daytime sleepiness, symptoms of abnormal rapid eye movement (REM) sleep, and a strong association with HLA-DRB1*1501, -DQA1*0102, and -DQB1*0602. Here, we investigated the clinico-physical characteristics of Korean patients with narcolepsy, their...

journal_title：Annals of laboratory medicine

authors： Woo HI,Joo EY,Hong SB,Lee KW,Kang ES

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:We reviewed patients with multiple myeloma (MM) in order to assess the incidence of genetic abnormalities and their associations with clinical parameters, risk groups, and prognosis. METHODS:A total of 130 patients with MM were enrolled. The incidences of genetic abnormalities were determined in all patient...

journal_title：Annals of laboratory medicine

authors： Jekarl DW,Min CK,Kwon A,Kim H,Chae H,Kim M,Lim J,Kim Y,Han K

更新日期：2013-07-01 00:00:00

abstract：:Changes in microparticles (MP) from red blood cell (RBC) concentrates in the context of irradiation have not been investigated. The aim of this study was to evaluate how irradiation affects the number of MPs within transfusion components. Twenty RBC concentrates, within 14 days after donation, were exposed to gamma ra...

journal_title：Annals of laboratory medicine

authors： Cho CH,Yun SG,Koh YE,Lim CS

更新日期：2016-07-01 00:00:00

abstract：:ABO discrepancy refers to an inconsistency between red cell and serum typings and has various causes, including hypogammaglobulinemia. IgM deficiency is a rare disorder that may accompany several conditions such as infection and autoimmune disorders. Here, we describe a case of IgM deficiency discovered during the eva...

journal_title：Annals of laboratory medicine

authors： Jung CL,Cha MK,Jun BH,Hong KS

更新日期：2013-05-01 00:00:00

abstract：BACKGROUND:High-sensitivity cardiac troponin I (hs-cTnI) and the soluble isoform of suppression of tumorigenicity 2 (sST2) are useful prognostic biomarkers in acute coronary syndrome (ACS). The aim of this study was to test the short term prognostic value of sST2 compared with hs-cTnI in patients with chest pain. METH...

journal_title：Annals of laboratory medicine

authors： Marino R,Magrini L,Orsini F,Russo V,Cardelli P,Salerno G,Hur M,Di Somma S,GREAT NETWORK.

更新日期：2017-03-01 00:00:00

abstract：BACKGROUND:Real-time PCR is more sensitive than microscopic examination for detecting Pneumocystis jirovecii. We compared the performance of two assays for detecting P. jirovecii DNA: the RealStar Pneumocystis jirovecii PCR Kit 1.0 CE (Altona Diagnostics, Hamburg, Germany) and the AmpliSens Pneumocystis jirovecii (cari...

journal_title：Annals of laboratory medicine

authors： Huh HJ,Lim KR,Ki CS,Huh K,Shim HJ,Song DJ,Kim YJ,Chung DR,Lee NY

更新日期：2019-03-01 00:00:00

abstract：BACKGROUND:Most immune reactions related to transfusion and transplantation are caused by IgM ABO antibodies. However, IgG also plays an important role in these reactions. Therefore, a method to measure antibodies, including IgG, is necessary. We investigated ABO antibody titers of healthy individuals using a column ag...

journal_title：Annals of laboratory medicine

authors： Park ES,Jo KI,Shin JW,Park R,Choi TY,Bang HI,Chai GR,Yun SG

更新日期：2014-05-01 00:00:00

abstract：:Procalcitonin (PCT) is used as a biomarker for the diagnosis of sepsis, severe sepsis and septic shock. At the same time, PCT has also been used to guide antibiotic therapy. This review outlines the main indications for PCT measurement and points out possible pitfalls. The classic indications for PCT measurement are: ...

journal_title：Annals of laboratory medicine

authors： Meisner M

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:ChromID Clostridium difficile agar (IDCd; bioMérieux SA, France) is a recently developed chromogenic medium for rapid and specific isolation of C. difficile. We compared the performance of IDCd with that of Clostridium difficile Selective Agar (CDSA). METHODS:A total of 530 fresh stool specimens were collec...

journal_title：Annals of laboratory medicine

authors： Shin BM,Lee EJ

更新日期：2014-01-01 00:00:00

abstract：:As various linezolid resistance mechanisms have been identified in methicillin-resistant Staphylococcus aureus (MRSA), we investigated the molecular characteristics of MRSA with elevated linezolid minimum inhibitory concentrations (MICs), using the VITEK 2 system (bioMérieux, Marcy-l'Étoile, France). Twenty-seven MRSA...

journal_title：Annals of laboratory medicine

authors： Yoo IY,Kang OK,Shim HJ,Huh HJ,Lee NY

更新日期：2020-01-01 00:00:00

abstract：BACKGROUND:The emergence of fosfomycin resistance and extended-spectrum β-lactamase (ESBL) genes is a serious threat to public health and a new challenge in shigellosis treatment. The purpose of this study was to identify fosfomycin resistance and characterize β-lactamase genes in fos-carrying isolates of Shigella flex...

journal_title：Annals of laboratory medicine

authors： Liu Y,Cheng Y,Yang H,Hu L,Cheng J,Ye Y,Li J

更新日期：2017-09-01 00:00:00

abstract：:Angiogenesis is important for the proliferation and survival of multiple myeloma (MM) cells. Bone marrow (BM) microvessel density (MVD) is a useful marker of angiogenesis and an increase in MVD can be used as a marker of poor prognosis in MM patients. We developed an automated image analyzer to assess MVD from images ...

journal_title：Annals of laboratory medicine

authors： Chung Y,Shin S,Shim H,Sohn JY,Lee DE,Lee H,Eom HS,Kim KG,Kong SY

更新日期：2020-07-01 00:00:00

abstract：BACKGROUND:As the spread of carbapenemase-producing Enterobacteriaceae poses a critical threat to public health, rapid detection of carbapenemase genes is urgently required for prompt initiation of appropriate antimicrobial therapy and infection control. We evaluated the performance of Xpert Carba-R v.2 (Cepheid, USA) ...

journal_title：Annals of laboratory medicine

authors： Byun JH,Kim YA,Kim M,Kim B,Choi JY,Park YS,Yong D

更新日期：2020-05-01 00:00:00

abstract：:The 2016 WHO diagnostic criteria for chronic myelomonocytic leukemia (CMML) require both absolute and relative monocytosis (≥1×10⁹/L and ≥10% of white blood cell counts) in peripheral blood. Moreover, myeloproliferative neoplasm (MPN) features in bone marrow and/or MPN-associated mutations tend to support MPN with mon...

journal_title：Annals of laboratory medicine

authors： Moon Y,Kim MH,Kim HR,Ahn JY,Huh J,Huh JY,Han JH,Park JS,Cho SR

更新日期：2018-09-01 00:00:00

abstract：:Myocardial infarction (MI) is the leading cause of death in the developed world. Biomarkers have an essential role in diagnosis, risk stratification, guiding management and clinical decision making in the setting of patients presenting with signs and symptoms of MI. Cardiac troponin (cTn) rose to prominence during the...

journal_title：Annals of laboratory medicine

authors： Christenson E,Christenson RH

更新日期：2013-09-01 00:00:00