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Annals of Laboratory Medicine

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https://www.readbyqxmd.com/read/27834077/erratum-current-pathological-and-laboratory-considerations-in-the-diagnosis-of-disseminated-intravascular-coagulation
#1
(no author information available yet)
This corrects the article on p. 505 in vol. 36, PMID: 27578502.
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834076/acromicric-dysplasia-caused-by-a-novel-heterozygous-mutation-of-fbn1-and-effects-of-growth-hormone-treatment
#2
LETTER
Hyung Suk Jin, Ho Young Song, Sung Yoon Cho, Chang Seok Ki, Song Hyun Yang, Ok Hwa Kim, Su Jin Kim
No abstract text is available yet for this article.
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834075/de-novo-san-luis-valley-syndrome-like-der-8-chromosome-with-a-concomitant-dup-8p22-in-a-mexican-girl
#3
LETTER
Alma Laura Sánchez-Casillas, Horacio Rivera, Anna Gabriela Castro-Martínez, José Elías García-Ortiz, Carlos Córdova-Fletes, Paul Mendoza-Pérez
No abstract text is available yet for this article.
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834074/first-case-report-of-bacteremia-due-to-catabacter-hongkongensis-in-a-korean-patient
#4
LETTER
Yong Jun Choi, Eun Jeong Won, Soo Hyun Kim, Myung Geun Shin, Jong Hee Shin, Soon Pal Suh
No abstract text is available yet for this article.
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834073/importance-of-specimen-type-and-quality-in-diagnosing-middle-east-respiratory-syndrome
#5
LETTER
Hee Jae Huh, Jae Hoon Ko, Young Eun Kim, Chang Hun Park, Geehay Hong, Rihwa Choi, Shinae Yu, Sun Young Cho, Ji Man Kang, Myoung Keun Lee, Chang Seok Ki, Eun Suk Kang, Nam Yong Lee, Jong Won Kim, Yae Jean Kim, Young Eun Ha, Cheol In Kang, Doo Ryeon Chung, Kyong Ran Peck, Jae Hoon Song
No abstract text is available yet for this article.
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834072/a-case-of-chronic-myeloid-leukemia-with-rare-variant-etv6-abl1-rearrangement
#6
LETTER
Soo In Choi, Mi Ae Jang, Woo Joon Jeong, Byung Ryul Jeon, Yong Wha Lee, Hee Bong Shin, Dae Sik Hong, You Kyoung Lee
No abstract text is available yet for this article.
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834071/concurrence-of-e1a2-and-e19a2-bcr-abl1-fusion-transcripts-in-a-typical-case-of-chronic-myeloid-leukemia
#7
LETTER
Jaehyeon Lee, Dal Sik Kim, Hye Soo Lee, Sam Im Choi, Yong Gon Cho
No abstract text is available yet for this article.
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834070/a-family-with-a-hemoglobin-e-variant-including-a-thai-immigrant-woman-in-korea
#8
LETTER
Jaehoon Jahng, Kui Hyun Yoon
No abstract text is available yet for this article.
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834069/using-array-based-comparative-genomic-hybridization-to-diagnose-pallister-killian-syndrome
#9
Mi Na Lee, Jiwon Lee, Hee Joon Yu, Jeehun Lee, Sun Hee Kim
Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834068/first-report-of-familial-dysalbuminemic-hyperthyroxinemia-with-an-alb-variant
#10
Yoon Young Cho, Ju Sun Song, Hyung Doo Park, Young Nam Kim, Hye In Kim, Tae Hyuk Kim, Jae Hoon Chung, Chang Seok Ki, Sun Wook Kim
Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 to 1.4-fold) and variable levels of free T4 according to different assay methods. Upon Sanger sequencing of her ALB, a heterozygous c...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834067/novel-pathogenic-variant-c-580c-t-in-the-cps1-gene-in-a-newborn-with-carbamoyl-phosphate-synthetase-1-deficiency-identified-by-whole-exome-sequencing
#11
Rihwa Choi, Hyung Doo Park, Mina Yang, Chang Seok Ki, Soo Youn Lee, Jong Won Kim, Junghan Song, Yun Sil Chang, Won Soon Park
Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole exome sequencing (WES). A four-day-old female neonate presented with respiratory failure due to severe metabolic encephalopathy with hyperammonemia (1,690 μmol/L; reference range, 11.2-48.2 μmol/L). Plasma amino acid analysis revealed markedly elevated levels of alanine (2,923 μmol/L; reference range, 131-710 μmol/L) and glutamine (5,777 μmol/L; reference range, 376-709 μmol/L), whereas that of citrulline was decreased (2 μmol/L; reference range, 10-45 μmol/L)...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834066/fecal-calprotectin-level-reflects-the-severity-of-clostridium-difficile-infection
#12
Jieun Kim, Heejung Kim, Hyun Ju Oh, Hyung Sun Kim, Youn Jee Hwang, Dongeun Yong, Seok Hoon Jeong, Kyungwon Lee
Clostridium difficile is a significant nosocomial and community-acquired pathogen, and is the leading cause of antibiotic-induced diarrhea associated with high morbidity and mortality. Given that the treatment outcome depends on the severity of C. difficile infection (CDI), we aimed to establish an efficient method of assessing severity, and focused on the stool biomarker fecal calprotectin (FC). FC directly reflects the intestinal inflammation status of a patient, and can aid in interpreting the current guidelines, which requires the integration of indirect laboratory parameters...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834065/human-leukocyte-antigen-c-genotype-and-killer-immunoglobulin-like-receptor-ligand-matching-in-korean-living-donor-liver-transplantation
#13
Hyeyoung Lee, Ki Hyun Park, Hye Sun Park, Ji Hyeong Ryu, Jihyang Lim, Yonggoo Kim, Gun Hyung Na, Dong Goo Kim, Eun Jee Oh
BACKGROUND: The interaction between killer immunoglobulin-like receptors (KIRs) and HLA class I regulates natural killer (NK) cell cytotoxicity and function. The impact of NK cell alloreactivity through KIR in liver transplantation remains unelucidated. Since the frequency of HLA-C and KIR genotypes show ethnic differences, we assessed the impact of HLA-C, KIR genotype, or KIR-ligand mismatch on the allograft outcome of Korean liver allografts. METHODS: One hundred eighty-two living donor liver transplant patients were studied...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834064/evaluation-of-bd-max-staph-sr-assay-for-differentiating-between-staphylococcus-aureus-and-coagulase-negative-staphylococci-and-determining-methicillin-resistance-directly-from-positive-blood-cultures
#14
Jaewoong Lee, Yeon Joon Park, Dong Jin Park, Kang Gyun Park, Hae Kyung Lee
BACKGROUND: We evaluated the performance of the BD MAX StaphSR Assay (SR assay; BD, USA) for direct detection of Staphylococcus aureus and methicillin resistance not only in S. aureus but also in coagulase-negative Staphylococci (CNS) from positive blood cultures. METHODS: From 228 blood culture bottles, 103 S. aureus [45 methicillin-resistant S. aureus (MRSA), 55 methicillin-susceptible S. aureus (MSSA), 3 mixed infections (1 MRSA+Enterococcus faecalis, 1 MSSA+MRCNS, 1 MSSA+MSCNS)], and 125 CNS (102 MRCNS, 23 MSCNS) were identified by Vitek 2...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834063/clinical-utility-of-measurement-of-vitamin-d-binding-protein-and-calculation-of-bioavailable-vitamin-d-in-assessment-of-vitamin-d-status
#15
Hyun Jeong Kim, Misuk Ji, Junghan Song, Hee Won Moon, Mina Hur, Yeo Min Yun
BACKGROUND: The associations of vitamin D deficiency with various clinical conditions highlighted the importance of vitamin D testing. Currently, clinicians measure only the total 25-hydroxyvitamin D [25(OH)D] concentration, regardless of its bioavailability. We aimed to determine the effect of vitamin D-binding protein (VDBP) on 25(OH)D bioavailability. METHODS: Serum samples were collected from 60 healthy controls, 50 pregnant women, and 50 patients in intensive care units (ICUs)...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834062/comparison-of-urine-albumin-to-creatinine-ratio-acr-between-acr-strip-test-and-quantitative-test-in-prediabetes-and-diabetes
#16
Eun Hee Nah, Seon Cho, Suyoung Kim, Han Ik Cho
BACKGROUND: Albuminuria is generally known as a sensitive marker of renal and cardiovascular dysfunction. It can be used to help predict the occurrence of nephropathy and cardiovascular disorders in diabetes. Individuals with prediabetes have a tendency to develop macrovascular and microvascular pathology, resulting in an increased risk of retinopathy, cardiovascular diseases, and chronic renal diseases. We evaluated the clinical value of a strip test for measuring the urinary albumin-to-creatinine ratio (ACR) in prediabetes and diabetes...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834061/development-and-evaluation-of-a-duplex-real-time-pcr-assay-with-a-novel-internal-standard-for-precise-quantification-of-plasma-dna
#17
Dan Chen, Shiyang Pan, Erfu Xie, Li Gao, Huaguo Xu, Wenying Xia, Ting Xu, Peijun Huang
BACKGROUND: Circulating levels of cell-free DNA increase in many pathologic conditions. However, notable discrepancies in the quantitative analysis of cell-free DNA from a large number of laboratories have become a considerable pitfall, hampering its clinical application. METHODS: We designed a novel recombinant DNA fragment that could be applied as an internal standard in a newly developed and validated duplex real-time PCR assay for the quantitative analysis of total cell-free plasma DNA, which was tested in 5,442 healthy adults and 200 trauma patients...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834060/morning-spot-urine-glucose-to-creatinine-ratios-predict-overnight-urinary-glucose-excretion-in-patients-with-type-2-diabetes
#18
So Ra Kim, Yong Ho Lee, Sang Guk Lee, Sun Hee Lee, Eun Seok Kang, Bong Soo Cha, Hyun Chul Lee, Jeong Ho Kim, Byung Wan Lee
BACKGROUND: With the advent of sodium glucose co-transporter 2 inhibitors to control glucose and treat diabetes, laboratory data aided by either timed or spot glucose levels in the urine could be used as an alternative marker of drug response. The aim of this study was to assess the agreement between overnight urinary glucose excretion (UGE) and morning spot urinary glucose-to-creatinine ratio (UGCR). METHODS: In this prospective cross-sectional study, we enrolled a total of 215 participants with either normal glucose tolerance (NGT), pre-diabetes, or type 2 diabetes mellitus (T2DM)...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27834059/calibration-of-high-density-lipoprotein-cholesterol-values-from-the-korea-national-health-and-nutrition-examination-survey-data-2008-to-2015
#19
Yeo Min Yun, Junghan Song, Misuk Ji, Jeong Ho Kim, Yongkang Kim, Taesung Park, Sang Hoon Song, Seungman Park, Min Jin Kim, Sun Jin Nho, Kyung Won Oh
BACKGROUND: For correct interpretation of the high-density lipoprotein cholesterol (HDL-C) data from the Korea National Health and Nutrition Examination Survey (KNHANES), the values should be comparable to reference values. We aimed to suggest a way to calibrate KNHANES HDL-C data from 2008 to 2015 to the Centers for Disease Control and Prevention (CDC) reference method values. METHODS: We derived three calibration equations based on comparisons between the HDL-C values of the KNHANES laboratory and the CDC reference method values in 2009, 2012, and 2015 using commutable frozen serum samples...
January 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27578521/identification-of-the-abo-cis-ab04-allele-with-a-unique-substitution-c796a-the-first-case-in-korea
#20
LETTER
Jung Yoon, Hee Jeong Youk, Jung Hee Chang, Mi Ae Jang, Ji Ho Choi, Myung Hyun Nam, Ji Seon Choi, Chae Seung Lim
No abstract text is available yet for this article.
November 2016: Annals of Laboratory Medicine
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