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Annals of Laboratory Medicine

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https://www.readbyqxmd.com/read/28841002/phenotype-of-a-patient-with-a-1p36-11-p35-3-interstitial-deletion-encompassing-the-ahdc1
#1
LETTER
Hae Yeon Park, Myungshin Kim, Woori Jang, Dae Hyun Jang
No abstract text is available yet for this article.
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28841001/a-case-of-antley-bixler-syndrome-with-a-novel-likely-pathogenic-variant-c-529g-c-in-the-por-gene
#2
LETTER
Jongwon Oh, Ju Sun Song, Jong Eun Park, Shin Yi Jang, Chang Seok Ki, Duk Kyung Kim
No abstract text is available yet for this article.
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28841000/first-case-of-echinocandin-resistant-candida-albicans-in-korea
#3
LETTER
Min Seung Park, Jong Eun Park, Dong Joon Song, Hee Jae Huh, Silvia Park, Cheol In Kang, Jong Hee Shin, Nam Yong Lee
No abstract text is available yet for this article.
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840999/performance-of-matrix-assisted-laser-desorption-ionization-time-of-fight-mass-spectrometry-for-rapid-discrimination-of-methicillin-resistant-staphylococcus-aureus-mrsa-first-report-of-a-relation-between-protein-peaks-and-mrsa-spa-type
#4
LETTER
Soon Sung Kwon, Sung Kuk Hong, Myung Sook Kim, Dongeun Yong, Kyungwon Lee
No abstract text is available yet for this article.
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840998/lipoprotein-x-detected-in-a-case-of-hypercholesterolemia-associated-with-chronic-cholangiohepatitis
#5
LETTER
Jihye Ha, Sang Guk Lee, Jeong Ho Kim
No abstract text is available yet for this article.
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840997/highly-aggressive-de-novo-aleukemic-variant-of-mast-cell-leukemia-without-kit-d816v-mutation
#6
LETTER
Myung Chul Suh, Ji Yeon Ham, Tae In Park, Joon Ho Moon, Jang Soo Suh
No abstract text is available yet for this article.
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840996/a-case-of-primary-bone-marrow-diffuse-large-b-cell-lymphoma-presenting-with-fibrillar-projections-and-hemophagocytic-lymphohistiocytosis
#7
LETTER
Min Sun Kim, Young Uk Cho, Seongsoo Jang, Eul Ju Seo, Jung Hee Lee, Chan Jeoung Park
No abstract text is available yet for this article.
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840995/novel-4-bp-intronic-deletion-c-1560-3_1560-6del-in-lemd3-in-a-korean-patient-with-osteopoikilosis
#8
In Young Yoo, Ju Sun Song, Chang Seok Ki, Jong Won Kim, Hoon Suk Cha, Yong Ki Min
Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840994/identification-of-the-prom1-mutation-p-r373c-in-a-korean-patient-with-autosomal-dominant-stargardt-like-macular-dystrophy
#9
Jong Min Kim, Chung Lee, Ga In Lee, Nayoung K D Kim, Chang Seok Ki, Woong Yang Park, Byoung Joon Kim, Sang Jin Kim
Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull's eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes prominin-1, which is a 5-transmembrane glycoprotein also known as CD133 and is involved in photoreceptor disk morphogenesis. PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840993/comparison-of-a-new-matrix-assisted-laser-desorption-ionization-time-of-flight-mass-spectrometry-platform-asta-microidsys-with-bruker-biotyper-for-species-identification
#10
Yangsoon Lee, Ji Yeon Sung, Hyunsoo Kim, Dongeun Yong, Kyungwon Lee
Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, with its accuracy and speed, is widely used for bacterial identification. The ASTA MicroIDSys system (ASTA, Korea) was recently developed for species identification. We compared its performance with that of Bruker Biotyper (Bruker Daltonics, Germany). Microbes were recovered from sputum, urine, and pus samples from patients admitted to a tertiary care hospital in Korea from January to April 2016. Matrix solution (α-cyano-4-hydroxycinnamic acid) was used, and the peptide profiles acquired from the Microflex LT (Bruker Daltonics) and Tinkerbell LT (ASTA) were analyzed by using their respective software...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840992/clinical-usefulness-of-human-epididymis-protein-4-in-lung-cancer
#11
Soo In Choi, Mi Ae Jang, Byung Ryul Jeon, Hee Bong Shin, You Kyoung Lee, Yong Wha Lee
Human epididymis protein 4 (HE4) has been suggested as a useful new biomarker of lung cancer; however, few relevant large-scale studies have been published. In this study, we evaluated the utility of serum HE4 for lung cancer detection. HE4 levels were measured in serum samples from 100 lung cancer patients, 57 patients with benign lung diseases, and 274 healthy controls by using a chemiluminescent immunoassay, and variations in HE4 levels were analyzed by clinical status such as lung cancer, benign lung disease, and healthy condition, Tumor, Lymph Nodes, Metastasis (TNM) stage, tumor score, and histological cancer type...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840991/evaluation-of-the-triage-tox-drug-screen-assay-for-detection-of-11-drugs-of-abuse-and-therapeutic-drugs
#12
Hae In Bang, Mi Ae Jang, Yong Wha Lee
The demand for rapid and broad clinical toxicology screens is on the rise. Recently, a new rapid toxicology screening test, the Triage TOX Drug Screen (Alere Inc., USA), which can simultaneously detect 11 drugs of abuse and therapeutic drugs with an instrument-read cartridge, was developed. In the present study, we evaluated the efficacy of this new on-site immunoassay using 105 urine specimens; the results were compared with those obtained by using ultra-performance liquid chromatography with tandem mass spectrometry (UPLC-TMS)...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840990/a-unique-mutational-spectrum-of-mlc1-in-korean-patients-with-megalencephalic-leukoencephalopathy-with-subcortical-cysts-p-ala275asp-founder-mutation-and-maternal-uniparental-disomy-of-chromosome-22
#13
Sun Ah Choi, Soo Yeon Kim, Jihoo Yoon, Joongmoon Choi, Sung Sup Park, Moon Woo Seong, Hunmin Kim, Hee Hwang, Ji Eun Choi, Jong Hee Chae, Ki Joong Kim, Seunghyo Kim, Yun Jin Lee, Sang Ook Nam, Byung Chan Lim
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840989/comparison-of-traditional-and-reverse-syphilis-screening-algorithms-in-medical-health-checkups
#14
Eun Hee Nah, Seon Cho, Suyoung Kim, Han Ik Cho, Jong Yil Chai
BACKGROUND: The syphilis diagnostic algorithms applied in different countries vary significantly depending on the local syphilis epidemiology and other considerations, including the expected workload, the need for automation in the laboratory and budget factors. This study was performed to investigate the efficacy of traditional and reverse syphilis diagnostic algorithms during general health checkups. METHODS: In total, 1,000 blood specimens were obtained from 908 men and 92 women during their regular health checkups...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840988/utility-of-a-direct-16s-rdna-pcr-and-sequencing-for-etiological-diagnosis-of-infective-endocarditis
#15
Min Sun Kim, Jeonghyun Chang, Mi Na Kim, Sang Ho Choi, Sung Ho Jung, Jae Won Lee, Heungsup Sung
BACKGROUND: Cases of infective endocarditis (IE) require prompt etiological diagnosis for effective treatment. Molecular methods can aid in rapid and reliable diagnosis of culture-negative IE cases. We evaluated the utility of 16S rDNA PCR and sequencing in determining the causative agents of IE in valve tissues, especially when specimens were obtained after initiation of antimicrobial therapy. METHODS: We performed 16S rDNA PCR and sequencing in heart valve specimens and medical records review of 80 patients who underwent protocol-based cardiac surgery from 2013 to 2015...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840987/multicenter-evaluation-of-an-image-analysis-device-apas-comparison-between-digital-image-and-traditional-plate-reading-using-urine-cultures
#16
John Glasson, Rhys Hill, Michael Summerford, Dianne Olden, Fotula Papadopoulos, Stephen Young, Steven Giglio
BACKGROUND: The application of image analysis technologies for the interpretation of microbiological cultures is evolving rapidly. The primary aim of this study was to establish whether the image analysis system named Automated Plate Assessment System (APAS; LBT Innovations Ltd., Australia) could be applied to screen urine cultures. A secondary aim was to evaluate differences between traditional plate reading (TPR) and the reading of cultures from images, or digital plate reading (DPR)...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840986/performance-evaluation-of-the-powerchek-mers-upe-orf1a-real-time-pcr-kit-for-the-detection-of-middle-east-respiratory-syndrome-coronavirus-rna
#17
Hee Jae Huh, Ji Youn Kim, Hyeon Jeong Kwon, Sun Ae Yun, Myoung Keun Lee, Chang Seok Ki, Nam Yong Lee, Jong Won Kim
BACKGROUND: Molecular detection of Middle East respiratory syndrome coronavirus (MERS-CoV) using real-time reverse transcription (rRT)-PCR assays is the method of choice for diagnosis of MERS. We evaluated the performance of the PowerChek MERS (upE & ORF1a) real-time PCR Kit (PowerChek MERS assay; Kogene Biotech, Korea) a one-step rRT-PCR assay for the qualitative detection of MERS-CoV. METHODS: We evaluated PowerChek MERS assay performance in comparison with nested RT-PCR and sequencing of the RNA-dependent RNA polymerase (RdRp) and N genes...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840985/benefits-of-thromboelastography-and-thrombin-generation-assay-for-bleeding-prediction-in-patients-with-thrombocytopenia-or-hematologic-malignancies
#18
Seon Young Kim, Ja Yoon Gu, Hyun Ju Yoo, Ji Eun Kim, Seonpyo Jang, Sooyeon Choe, Youngil Koh, Inho Kim, Hyun Kyung Kim
BACKGROUND: Thromboelastography (TEG) provides comprehensive information on the whole blood clot formation phases, whereas thrombin generation assay (TGA) reveals the endogenous thrombin levels in plasma. We investigated the potential significance of TEG and TGA parameters for prediction of clinical bleeding in hematologic patients on the basis of the patient's platelet levels. METHODS: TEG and TGA were performed in 126 patients with thrombocytopenia or hematologic malignancies...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840984/matrix-assisted-laser-desorption-ionization-time-of-flight-mass-spectrometry-in-clinical-microbiology-what-are-the-current-issues
#19
REVIEW
Alex van Belkum, Martin Welker, David Pincus, Jean Philippe Charrier, Victoria Girard
Matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) has revolutionized the identification of microbial species in clinical microbiology laboratories. MALDI-TOF-MS has swiftly become the new gold-standard method owing to its key advantages of simplicity and robustness. However, as with all new methods, adoption of the MALDI-TOF MS approach is still not widespread. Optimal sample preparation has not yet been achieved for several applications, and there are continuing discussions on the need for improved database quality and the inclusion of additional microbial species...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28840983/diagnostics-and-prognostication-of-myelodysplastic-syndromes
#20
REVIEW
Gina Zini
MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as 'founder' mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age...
November 2017: Annals of Laboratory Medicine
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