Publications by authors named "Jung-Sook Ha"

32 Publications

Thrombocythemia 1 With Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea.

Ann Lab Med 2020 Jul;40(4):341-344

Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Korea.

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http://dx.doi.org/10.3343/alm.2020.40.4.341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054690PMC
July 2020

An optimized next-generation sequencing for different clinical sample types.

J Gynecol Oncol 2020 Jan 6;31(1):e9. Epub 2019 Aug 6.

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Objective: A simultaneous detection of germline and somatic mutations in ovarian cancer (OC) using tumor materials is considered to be cost-effective for testing. However, there are limited studies of the analytical performances according to various sample types. The aim of this study is to propose a strategy for routine next-generation sequencing (NGS) screening based on analytical performance according to different sample types.

Methods: We compared NGS screening assay using buffy coat, fresh-frozen (FF) and formalin-fixed paraffin-embedded (FFPE) from 130 samples.

Results: The rate of repeated tests in a total of buffy coat, FF and FFPE was 0%, 8%, and 34%, respectively. The accuracy of NGS testing was 100.0%, 99.9% and 99.9% in buffy coat, FFPE and FF, respectively. However, due to the presence of variant allele frequency (VAF) shifted heterozygous variants, tumor materials (FFPE and FF) showed lower sensitivity (95.5%-99.0%) than buffy coat (100%). Furthermore, FFPE showed 51.4% of the positive predictive value (PPV) on account of sequence artifacts. When performed in the post-filtration process, PPV was increased by approximately 20% in FFPE. Buffy coat showed 100% of sensitivity, specificity and accuracy in NGS test.

Conclusions: On the comparison of the analytical performance according to different sample types, the buffy coat was not affected by sequencing artifacts and VAF shifted variants. Therefore, the blood test should be given priority in detecting germline mutation, and tumor materials could be suitable to detect somatic mutations in OC patients without identifying germline mutation.
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http://dx.doi.org/10.3802/jgo.2020.31.e9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918881PMC
January 2020

The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.

Korean J Pediatr 2018 Dec 16;61(12):403-406. Epub 2018 Sep 16.

Green Cross Genome, Yongin, Korea.

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.
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http://dx.doi.org/10.3345/kjp.2018.06289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313083PMC
December 2018

mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.

J Gynecol Oncol 2018 Nov;29(6):e90

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

Objective: We performed small-scale mutation and large genomic rearrangement (LGR) analysis of in ovarian cancer patients to determine the prevalence and the characteristics of the mutations.

Methods: All ovarian cancer patients who visited a single institution between September 2015 and April 2017 were included. Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and long-range polymerase chain reaction (PCR) were performed to comprehensively study . The genetic risk models BRCAPRO, Myriad, and BOADICEA were used to evaluate the mutation analysis.

Results: In total, 131 patients were enrolled. Of the 131 patients, Sanger sequencing identified 16 different small-scale mutations in 20 patients (15.3%). Two novel nonsense mutations were detected in 2 patients with a serous borderline tumor and a large-cell neuroendocrine carcinoma. MLPA analysis of in Sanger-negative patients revealed 2 LGRs. The LGRs accounted for 14.3% of all identified mutations, and the prevalence of LGRs identified in this study was 1.8% in 111 Sanger-negative patients. The genetic risk models showed statistically significant differences between mutation carriers and non-carriers. The 2 patients with LGRs had at least one blood relative with breast or ovarian cancer.

Conclusion: Twenty-two (16.8%) of the unselected ovarian cancer patients had mutations that were detected through comprehensive genetic testing. Ovarian cancer patients with Sanger-negative results should be considered for LGR detection if they have one blood relative with breast or ovarian cancer. The detection of more mutations in patients is important for efforts to provide targeted therapy to ovarian cancer patients.
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http://dx.doi.org/10.3802/jgo.2018.29.e90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189434PMC
November 2018

A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.

Pediatr Blood Cancer 2018 10 12;65(10):e27279. Epub 2018 Jun 12.

Green Cross Genome, Yongin, Republic of Korea.

A 10-year-old male and his family members visited a pediatric hematology clinic due to coagulopathy. Laboratory tests indicated von Willebrand disease (vWD) in all the family members. We conducted diagnostic exome sequencing for confirmation. The patient was confirmed to be a compound heterozygote for vWD: c.2574C > G (p.Cys858Trp) from his father (known variant of vWD type 1) and c.3390C > T (p.Pro1127_Gly1180delinsArg) from his mother (variant known to result in exon 26 skipping in vWD type 2A). He was managed with factor VIII and von Willebrand factor complex concentrate during palatoplasty due to bleeding despite pre-operative desmopressin injection. The operation was completed successfully.
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http://dx.doi.org/10.1002/pbc.27279DOI Listing
October 2018

Sequential strategy for umbilical cord blood transplantation in a Korean Fanconi anemia girl with refractory acute myelomonocytic leukemia and complex karyotype.

Pediatr Transplant 2017 Mar 15;21(2). Epub 2016 Dec 15.

Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.

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http://dx.doi.org/10.1111/petr.12871DOI Listing
March 2017

Comparison of the Automated cobas u 701 Urine Microscopy and UF-1000i Flow Cytometry Systems and Manual Microscopy in the Examination of Urine Sediments.

J Clin Lab Anal 2016 Sep 3;30(5):663-71. Epub 2016 Feb 3.

Department of Laboratory Medicine, School of Medicine, Keimyung University, Daegu, Korea.

Background: The cobas u 701, a new automated image-based urine sediment analyzer, was introduced recently. In this study, we compared its performance with that of UF-1000i flow cytometry and manual microscopy in the examination of urine sediments.

Methods: Precision, linearity, and carry-over were determined for the two urine sediment analyzers. For a comparison of the method, 300 urine samples were examined by the automated analyzers and by manual microscopy using a KOVA chamber.

Results: Within-run coefficients of variation (CVs) for the control materials were 7.0-8.8% and 1.7-5.7% for the cobas u 701 and UF-1000i systems, respectively. Between-run CVs were 8.5-9.8% and 2.7-5.4%, respectively. Both instruments showed good linearity and negligible carry-over. For red blood cells (RBC), white blood cells (WBC), and epithelial cells (EPI), the overall concordance rates within one grade of difference among the three methods were good (78.6-86.0%, 88.7-93.8%, and 81.3-90.7%, respectively). The concordance rate for casts was poor (66.5-68.9%).

Conclusion: Compared with manual microscopy, the two automated sediment analyzers tested in this study showed satisfactory analytical performances for RBC, WBC, and EPI. However, for other urine sediment particles confirmation by visual microscopy is still required.
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http://dx.doi.org/10.1002/jcla.21919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807231PMC
September 2016

Up-regulation of MicroRNA 146b is Associated with Myelofibrosis in Myeloproliferative Neoplasms.

Ann Clin Lab Sci 2015 ;45(3):308-14

Department of Pathology, Keimyung University School of Medicine, Daegu, Korea.

In this study, our goal was to evaluate whether the expressions of microRNA (miR)-150, miR-146b, miR-31 and miR-95 demonstrate primary myelofibrosis (PMF) specificity, associations with fibrosis grade, hematologic phenotypes, or myeloproliferative neoplasm (MPN)-associated mutations. A total of 51 formalin-fixed and paraffin-embedded bone marrow MPN samples, including 15 polycythemia vera (PV), 26 essential thrombocythemia (ET), and 10 PMF, and 24 normal controls were included. The expression of microRNA (miRNA) was detected by quantitative real-time polymerase chain reaction using miRNA specific primers. RNU6-2 was analyzed for all samples as endogenous control for relative quantification. Information for fibrosis, hematologic parameters, Janus kinase 2 (JAK2) V617F, and calreticulin (CALR) mutations was obtained from medical records. Significant increment of miR-146b was detected in PMF compared to normal controls (P=0.008). Moreover, expression of miR-146b tended to increase according to increment of fibrosis grade, and patients with myelofibrosis (MF) grade 3 showed significantly higher expression than patients with MF 0 to 2 (P=0.022, 0.001 and 0.013, respectively) or normal controls (P<0.001). The expression of miR-31 also showed tendency to increase following fibrosis and miR-150 showed up-regulated expression in ET (P=0.015) compared to normal control. There was no relationship between miRNA expression and hematologic indices except miR-95 showed negative correlation with platelet count (P=0.024). There was no significant correlation between miRNA expression and JAK2 V617F or CALR mutation. Up-regulation of miR-146b could be used as a fibrosis-indicating marker and might be helpful in the study of fibrotic mechanism in MPN, as well as other fibrotic diseases.
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March 2016

Calreticulin exon 9 mutations in myeloproliferative neoplasms.

Ann Lab Med 2015 Jan 8;35(1):22-7. Epub 2014 Dec 8.

Department of Laboratory Medicine, Yeungnam University College of Medicine, Daegu, Korea.

Background: Calreticulin (CALR) mutations were recently discovered in patients with myeloproliferative neoplasms (MPNs). We studied the frequency and type of CALR mutations and their hematological characteristics.

Methods: A total of 168 MPN patients (36 polycythemia vera [PV], 114 essential thrombocythemia [ET], and 18 primary myelofibrosis [PMF] cases) were included in the study. CALR mutation was analyzed by the direct sequencing method.

Results: CALR mutations were detected in 21.9% of ET and 16.7% of PMF patients, which accounted for 58.5% and 33.3% of ET and PMF patients without Janus kinase 2 (JAK2) or myeloproliferative leukemia virus oncogenes (MPL) mutations, respectively. A total of five types of mutation were detected, among which, L367fs(*)46 (53.6%) and K385fs(*)47 (35.7%) were found to be the most common. ET patients with CALR mutation had lower leukocyte counts and ages compared with JAK2-mutated ET patients.

Conclusion: Genotyping for CALR could be a useful diagnostic tool for JAK2-or MPL-negative ET or PMF patients. CALR mutation may be a distinct disease group, with different hematological characteristics than that of JAK2-positive patients.
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http://dx.doi.org/10.3343/alm.2015.35.1.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272961PMC
January 2015

Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.

Obstet Gynecol Sci 2014 Jul 15;57(4):318-24. Epub 2014 Jul 15.

Department of Obstetrics and Gynecology, Keimyung University School of Medicine, Deagu, Korea.

We report a case of de novo 7q interstitial deletion detected by conventional karyotyping and by microarray of amniotic fluid sampled during the prenatal period. A 32-year-old pregnant woman was evaluated at our hospital following detection of increased nuchal translucency at 12 weeks and 5 days of gestation. Conventional karyotyping revealed 46,XX,del(7)(q21q22) in 20 interphase mitotic cells, and high-resolution microarray revealed 12.8 Mb (90,625,014-103,430,901) deletion in the region 7q21.13q22.1. Both parents had normal karyotypes. After birth, the neonate displayed several anomalies, including palatine cleft, upslanted and wide palpebral fissure, low-set ears, micrognathia, microcephaly, ventriculomegaly, subglottic tracheal stenosis, hearing loss, and hand/foot deformities, including brachydactyly, polydactyly, and cutaneous syndactyly. This case study helps explain the phenotype-genotype relationship in patients with 7q21.13q22.1 deletion.
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http://dx.doi.org/10.5468/ogs.2014.57.4.318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124095PMC
July 2014

A case of myelodysplastic syndrome with a der(1;18)(q10;q10) translocation.

Blood Res 2014 Jun 25;49(2):132-4. Epub 2014 Jun 25.

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

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http://dx.doi.org/10.5045/br.2014.49.2.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090336PMC
June 2014

Analysis of the Ten-Eleven Translocation 2 (TET2) gene mutation in myeloproliferative neoplasms.

Ann Clin Lab Sci 2014 ;44(2):173-9

M.D.,Ph.D.; Department of Laboratory Medicine, Keimyung University School of Medicine, 56 Dalsung-ro, Jung-gu, Dongsan-dong, Daegu, Republic of Korea, 700-712; phone: 82 53 250 7266; fax: 82 53 250 7275; e-mail:

Loss-of-function mutations in the putative tumor suppressor gene, Ten-Eleven Ttranslocation 2(TET2), have been identified recently in myeloproliferative neoplasms (MPNs). The present study analyzed the TET2 gene in 99 MPNs patients. The overall TET2 mutational frequency was 12.1% (22.2% in polycythemia vera (PV), 9.7% in essential thrombocythemia (ET), 18.2% in primary myelofibrosis (PMF,) and 0% in unclassified MPNs), and 11 mutations (p.Lys95Asnfs*18, p.Gln967Asnfs*40, p.Lys1022Glufs*4, p.Asp1314Metfs*49, p.Gln1534Alafs*43, p.Tyr1618Leufs*4, p.Leu1609Glufs*45, p.Gly1735*, Q599R, c.3409+1G>T, c.4044+2insT) were identified. All the patients with TET2 mutation were accompanied by the JAK2 V617F mutation. The existence of the TET2 mutation was not related to the patient's age, hematologic indices, JAK2 V617F allele burden, frequencies of organomegaly, marrow fibrosis, or thrombotic/hemorrhagic complications in entire MPN patients. However, tendencies toward higher JAK2 V617F allele burdens (88.0±4.3% vs. 19.1±28.7%, P=0.034) and higher Hct (47.4±5.4% vs. 25.5±6.2%, P=0.037) were detected in PMF patients harboring TET2 mutations. Moreover, a significantly higher frequency of organomegaly was identified in ET patients harboring the TET2 mutation (50% vs. 19.6%, P=0.018). The TET2 mutation most likely contributes to clinical phenotypes and shows a high accompanying rate with JAK2 V617F; larger scale studies involving more MPN patients are needed.
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December 2014

Acute myeloid leukemia with a novel t(8;21) variant: paracentric inversion-associated ins(21;8).

Leuk Lymphoma 2014 Feb 14;55(2):441-3. Epub 2013 Jun 14.

Department of Laboratory Medicine, Keimyung University School of Medicine , Daegu , Korea.

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http://dx.doi.org/10.3109/10428194.2013.801469DOI Listing
February 2014

Two cases of partial trisomy 4p and partial trisomy 14q.

Ann Lab Med 2013 Jan 17;33(1):69-74. Epub 2012 Dec 17.

Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea.

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
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http://dx.doi.org/10.3343/alm.2013.33.1.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535200PMC
January 2013

Correlations between Janus kinase 2 V617F allele burdens and clinicohematologic parameters in myeloproliferative neoplasms.

Ann Lab Med 2012 Nov 17;32(6):385-91. Epub 2012 Oct 17.

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

Background: This study evaluated potential correlations between the allele burden of the Janus kinase 2 (JAK2) V617F mutation and clinicohematologic characteristics in patients with myeloproliferative neoplasms (MPN).

Methods: Clinical and hematologic features were reviewed for 103 MPN patients, including patients with polycythemia vera (PV, 22 patients), essential thrombocythemia (ET, 64 patients), and primary myelofibrosis (PMF, 17 patients). JAK2 V617F allele status and allele burdens were measured by allele-specific PCR and pyrosequencing, respectively.

Results: The JAK2 V617F mutation was detected in 95.5%, 68.8%, and 52.9% of PV, ET, and PMF patients, respectively. JAK2 V617F-positive ET patients were significantly older and exhibited higher neutrophil fractions, a higher frequency of thrombotic events, and a higher myelofibrosis rate than JAK2 V617F-negative patients (P <0.05). PV patients carried the highest mean T allele burden (66.0%±24.9%) compared with ET (40.5%±25.2%) and PMF patients (31.5%±37.0%) (P =0.00). No significant correlations were detected between V617F allele burden and patient age, white blood cell count, Hb, Hct, or the platelet count for PV, ET, or PMF patients. ET patients with organomegaly had a higher JAK2 V617F allele burden (53.4%±23.7%) than patients without organomegaly (35.6%±24.3%) (P =0.03).

Conclusions: The JAK2 V617F mutational status and its allele burden correlate with the clinicohematologic phenotypes of ET patients, including older age, higher neutrophil count, and greater rates of organomegaly, thrombotic events, and myelofibrosis. For PV and PMF patients, larger-scale studies involving more MPN patients are needed.
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http://dx.doi.org/10.3343/alm.2012.32.6.385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3486931PMC
November 2012

Subpopulations of regulatory T cells in rheumatoid arthritis, systemic lupus erythematosus, and Behcet's disease.

J Korean Med Sci 2012 Sep 22;27(9):1009-13. Epub 2012 Aug 22.

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

Recently, subpopulations of regulatory T (Treg) cells, resting Treg (rTreg) and activated Treg (aTreg), have been discovered. The authors investigated the relationship between the change of Treg, aTreg and rTreg and autoimmune diseases. Treg cells and those subpopulations were analyzed by using the human regulatory T cell staining kit and CD45RA surface marker for 42 rheumatoid arthritis (RA), 13 systemic lupus sclerosis (SLE), 7 Behcet's disease (BD), and 22 healthy controls. The proportion of Treg cells was significantly lower in RA (3.8% ± 1.0%) (P < 0.001) and BD (3.3% ± 0.5%) (P < 0.01) compared to healthy controls (5.0% ± 1.3%). The proportion of aTreg cells was also significantly lower in RA (0.4% ± 0.2%) (P = 0.008) and BD (0.3% ± 0.1%) (P = 0.013) compared to healthy controls (0.6% ± 0.3%). The rTreg cells showed no significant differences. The ratio of aTreg to rTreg was lower in RA patients (0.4% ± 0.2%) than that in healthy controls (0.7% ± 0.4%) (P = 0.002). This study suggests that the decrement of aTreg not rTreg cells contributes the decrement of total Treg cells in peripheral blood of RA and BD autoimmune diseases. Detailed analysis of Treg subpopulations would be more informative than total Treg cells in investigating mechanism of autoimmune disease.
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http://dx.doi.org/10.3346/jkms.2012.27.9.1009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429816PMC
September 2012

Anti-cancer properties of glucosamine-hydrochloride in YD-8 human oral cancer cells: Induction of the caspase-dependent apoptosis and down-regulation of HIF-1α.

Toxicol In Vitro 2012 Feb 13;26(1):42-50. Epub 2011 Oct 13.

Department of Oral and Maxillofacial Surgery, School of Dentistry, Kyungpook National University, Daegu 700-412, Republic of Korea.

Evidence suggests anti-tumor activities of glucosamine-hydrochloride (GS-HCl). In the present study, we investigated anti-proliferative, growth suppressive and/or pro-apoptotic effects of GS-HCl on YD-8 human oral squamous cell carcinoma (OSCC) cells. Fundamentally, treatment with GS-HCl strongly inhibited proliferation and induced apoptosis in YD-8 cells, as determined by MTS and DNA fragmentation analyses. Of further note, as measured by Western analyses, GS-HCl treatment led to activation of caspase-3, cytosolic accumulation of cytochrome c, down-regulation of Mcl-1 and HIF-1α, up-regulation of GRP78, an indicator of ER stress, and generation of ROS in YD-8 cells. Importantly, results of pharmacological inhibition studies showed that treatment with z-VAD-fmk, a pan-caspase inhibitor, but not with vitamin E, an anti-oxidant strongly blocked the GS-HCl-induced apoptosis in YD-8 cells. Analyses of additional cell culture works further revealed that GS-HCl had a strong growth suppressive effect on not only YD-8 but also YD-10B and YD-38, two other human OSCC cell lines. These findings collectively demonstrate that GS-HCl has anti-proliferative, anti-survival, and pro-apoptotic effects on YD-8 cells and the effects appear to be mediated via mechanisms associated with the mitochondrial-dependent activation of caspases, down-regulation of Mcl-1, and induction of ER stress. Considering HIF-1α as a tumor angiogenic transcription factor, the ability of GS-HCl to down-regulate HIF-1α in YD-8 cells may further support its anti-cancer property. It is thus suggested that GS-HCl may be used as a potential anti-cancer drug against human OSCC.
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http://dx.doi.org/10.1016/j.tiv.2011.10.005DOI Listing
February 2012

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

Korean J Pediatr 2011 Jun 30;54(6):272-5. Epub 2011 Jun 30.

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is characterized by aggressive and rapid progression of aortic aneurysm. Therefore, the patients with distinct phenotype, marked aortic dilatation and aneurysm at early age should be suspected to be affected by LDS and rapid TGFBR gene analysis should be done. We report one child diagnosed as LDS due to typical phenotypes and two novel missense mutations of the TGFBR2 gene (c.1526G>T and c.1528A>T).
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http://dx.doi.org/10.3345/kjp.2011.54.6.272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174364PMC
June 2011

Possible new LNK mutations in myeloproliferative neoplasms.

Am J Hematol 2011 Oct 22;86(10):866-8. Epub 2011 Aug 22.

Department of Laboratory Medicine, Keimyung University School of Medicine, 194 Jung-gu Dongsan-dong, Daegu 700-712, South Korea.

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http://dx.doi.org/10.1002/ajh.22107DOI Listing
October 2011

Bone marrow metastasis of small cell carcinoma of the lung mimicking Burkitt lymphoma/leukemias.

Korean J Hematol 2011 Jun 21;46(2):67. Epub 2011 Jun 21.

Department of Pathology, Keimyung University School of Medicine, Daegu, Korea.

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http://dx.doi.org/10.5045/kjh.2011.46.2.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3128902PMC
June 2011

1q triplication as sole cytogenetic abnormality in myelodysplastic syndrome.

Leuk Lymphoma 2011 Jul 23;52(7):1387-9. Epub 2011 May 23.

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http://dx.doi.org/10.3109/10428194.2011.569960DOI Listing
July 2011

Adult T-cell leukemia/lymphoma with CLL-like morphology.

Korean J Hematol 2011 Mar 15;46(1). Epub 2011 Mar 15.

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

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http://dx.doi.org/10.5045/kjh.2011.46.1.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065632PMC
March 2011

[Evaluation of the usefulness of selective chromogenic agar medium (chromID VRE) and multiplex PCR method for the detection of vancomycin-resistant enterococci].

Korean J Lab Med 2010 Dec;30(6):631-6

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

Background: Accurate and early detection of vancomycin-resistant enterococci (VRE) is critical for controlling nosocomial infection. In this study, we evaluated the usefulness of a selective chromogenic agar medium and of multiplex PCR for detection of VRE, and both these techniques were compared with the conventional culture method for VRE detection.

Methods: We performed the following 3 methods for detecting VRE infection in stool specimens: the routine culture method, culturing in selective chromogenic agar medium (chromID VRE, bioMérieux, France), and multiplex PCR using the Seeplex® VRE ACE Detection kit (Seegene Inc., Korea) with additional PCR for vanC genes.

Results: We isolated 109 VRE strains from 100 stool specimens by the routine culture method. In chromID VRE, all the isolates showed purple colonies, including Enterococcus gallinarum and E. raffinosus, which were later identified using the Vitek card. All VRE isolates were identified by the multiplex PCR method; 100 were vanA-positive E. faecium, 8 were vanA- and vanC-1-positive E. gallinarum, and 1 was vanA-positive E. raffinosus.

Conclusions: For VRE surveillance, culturing the isolates in chromID VRE after broth enrichment appears to be an accurate, rapid, and easy method for routine screening test. Multiplex PCR is relatively expensive and needs skilled techniques for detecting VRE, but it can be an auxiliary tool for rapid detection of genotype during a VRE outbreak.
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http://dx.doi.org/10.3343/kjlm.2010.30.6.631DOI Listing
December 2010

Complex translocation (8;8;21) with additional trisomy 4 in acute myelogenous leukemia.

Korean J Hematol 2010 Jun 30;45(2):89. Epub 2010 Jun 30.

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

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http://dx.doi.org/10.5045/kjh.2010.45.2.89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2983018PMC
June 2010

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.

Nat Genet 2010 May 4;42(5):400-5. Epub 2010 Apr 4.

Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea.

Copy number variants (CNVs) account for the majority of human genomic diversity in terms of base coverage. Here, we have developed and applied a new method to combine high-resolution array comparative genomic hybridization (CGH) data with whole-genome DNA sequencing data to obtain a comprehensive catalog of common CNVs in Asian individuals. The genomes of 30 individuals from three Asian populations (Korean, Chinese and Japanese) were interrogated with an ultra-high-resolution array CGH platform containing 24 million probes. Whole-genome sequencing data from a reference genome (NA10851, with 28.3x coverage) and two Asian genomes (AK1, with 27.8x coverage and AK2, with 32.0x coverage) were used to transform the relative copy number information obtained from array CGH experiments into absolute copy number values. We discovered 5,177 CNVs, of which 3,547 were putative Asian-specific CNVs. These common CNVs in Asian populations will be a useful resource for subsequent genetic studies in these populations, and the new method of calling absolute CNVs will be essential for applying CNV data to personalized medicine.
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http://dx.doi.org/10.1038/ng.555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329635PMC
May 2010

Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer.

Cancer Epidemiol Biomarkers Prev 2010 Jan;19(1):229-39

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Purpose: Dihydrotestosterone (DHT) is an important factor in prostate cancer (PCA) genesis and disease progression. Given PCA's strong genetic component, we evaluated the possibility that variation in genes involved in DHT metabolism influence PCA risk.

Experimental Design: We investigated copy number variants (CNV) and single nucleotide polymorphisms (SNP). We explored associations between CNV of uridine diphospho-glucuronosyltransferase (UGT) genes from the 2B subclass, given their prostate specificity and/or involvement in steroid metabolism and PCA risk. We also investigated associations between SNPs in genes (HSD3B1, SRD5A1/2, and AKR1C2) involved in the conversion of testosterone to DHT, and in DHT metabolism and PCA risk. The population consisted of 426 men (205 controls and 221 cases) who underwent prostate-specific antigen screening as part of a PCA early detection program in Tyrol, Austria.

Results: No association between CNV in UGT2B17 and UGT2B28 and PCA risk was identified. Men carrying the AA genotype at SNP rs6428830 (HSD3B1) had an odds ratio (OR) of 2.0 [95% confidence intervals (95% CI), 1.1-4.1] compared with men with GG, and men with AG or GG versus AA in rs1691053 (SRD5A1) had an OR of 1.8 (95% CI, 1.04-3.13). Individuals carrying both risk alleles had an OR of 3.1 (95% CI, 1.4-6.7) when compared with men carrying neither (P = 0.005). Controls with the AA genotype on rs7594951 (SRD5A2) tended toward higher serum DHT levels (P = 0.03).

Conclusions: This is the first study to implicate the 5alpha-reductase isoform 1 (SRD5A1) and PCA risk, supporting the rationale of blocking enzymatic activity of both isoforms of 5alpha-reductase for PCA chemoprevention.
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http://dx.doi.org/10.1158/1055-9965.EPI-09-1018DOI Listing
January 2010

[A case of partial trisomy 15q25.3-qter].

Korean J Lab Med 2009 Feb;29(1):66-70

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

A 15q25-qter partial trisomy characterized by pre or postnatal overgrowth, tall stature, macrocephaly and craniosynostosis has rarely been reported. The cause of overgrowth has been thought to be the triplication of the insulin-like growth factor 1 receptor (IGF1R) gene located on the 15q26.3. We report a patient with partial trisomy 15q25.3-qter showing mental retardation, developmental delay, macrocephaly, long narrow face, ptosis, high palate arch, scoliosis, clinodactyly and overgrowth. Additional material located on terminal 2q was found in karyotyping analysis. In bacterial artificial chromosome (BAC) clone-based-array comparative genomic hybridization (aCGH) analysis, a gain of 31 clones on 15q25.3-qter and a loss of 2 clones on 2q37.3 were observed. An extra copy of IGF1R gene was observed on derivative chromosome 2 in FISH analysis. In conclusion, the patient was diagnosed to have de novo 46,XX,der(2)t(2;15)(q37.3;q25.3) chromosome complement. Adequate genetic counseling and regular follow-ups would be needed for the patient.
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http://dx.doi.org/10.3343/kjlm.2009.29.1.66DOI Listing
February 2009

[A RhD negative patient failed to produce detectable anti-D after transfusion of 35 units of RhD positive red blood cells].

Korean J Lab Med 2007 Oct;27(5):369-72

Department of Laboratory Medicine, School of Medicine, Keimyung University, Daegu, Korea.

In the present day, pretransfusion tests include ABO and RhD grouping, antibody screening, antibody identification, and cross matching. Although error rates for these tests have decreased compared to those in the past, clerical errors still occur. When exposed to RhD positive RBCs, a RhD negative person can produce anti-D that causes a severe hemolytic disease of the fetus and the newborn in addition to hemolytic transfusion reactions. Therefore, administration of RhD positive RBCs to a RhD negative person should be avoided. We experienced a RhD negative patient who had been misidentified as positive and transfused 35 units of RhD positive RBCs eight years ago, but did not have detectable anti-D in present. The red cells of the patient showed no agglutination with the anti-D reagent and a negative result in the standard weak D test. The multiplex PCR with sequence-specific priming revealed that the patient was RhD negative.
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http://dx.doi.org/10.3343/kjlm.2007.27.5.369DOI Listing
October 2007

mRNA expression and RNA editing (2451 C-to-U) of IL-12 receptor beta2 in adult atopic patients.

J Korean Med Sci 2006 Dec;21(6):1070-4

Daegu Kyoungbook Blood Center, Korea Red Cross, Daegu, Korea.

Interleukin (IL)-12 activates T helper (Th) 1 cells to produce interferon (IFN)-gamma which inhibits atopic inflammation. IL-12 acts through interaction with its receptor, especially beta(2) subunit. In several studies, the low production of IFN-gamma in peripheral mononuclear cells of atopic patients on response to IL-12 stimulation has been reported. Therefore we investigated the IL-12 receptor beta(2) (IL-12R beta(2)) mRNA expression and RNA editing, nucleotide 2451 C-to-U conversion, to find the cause of low responsiveness to IL-12 in atopy. Quantitative real time PCR for mRNA expression and sequence analysis for RNA editing were performed in 80 atopic patients and 54 healthy controls. The expression of IL-12R beta(2) mRNA was significantly lower in atopic patients than healthy controls (p<0.05). In sequence analysis, RNA editing on nucleotide 2451 was not found from either atopic patients or healthy controls. In additional evaluation, there was no relationship between expression of IL-12R beta(2) mRNA and serum total IgE or blood eosinophil count. Reduced IL-12R beta(2) mRNA expression in atopic patients indicate the reduced capacity to respond to IL-12 which induce IFN-gamma production and this may contribute to Th2-skewed immune response in atopy.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721931PMC
http://dx.doi.org/10.3346/jkms.2006.21.6.1070DOI Listing
December 2006