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1.
Ann Lab Med ; 40(3): 232-237, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31858763

RESUMO

BACKGROUND: Genetic counseling (GC) provides many benefits, including the identification of patients appropriate for testing, patient education, and medical management. We evaluated the current status of and challenges faced by GC practitioners in Korean hospitals. METHODS: An electronic survey was designed and conducted in 52 certified laboratory physicians belonging to the Korean Society of Laboratory Medicine, from August to September 2018. The questionnaires addressed three main categories of information: (1) current status of GC in hospitals; (2) essential qualifications of GC practitioners; and (3) challenges and perspectives for GC. Fisher's exact test was applied to analyze categorical data. RESULTS: Among a total of 52 participants who initially responded, 12 (23.1%) were performing GC either by direct or indirect care. GC clinics were opened regularly for one (33.3%) or more than three sessions (25.0%) per week; most respondents spent more time for pre-visit activities than in-person visits, both for a initial visit patient and for a follow-up visit patient. All laboratory physicians provided genetic information to their patients. Most recommended family genetic testing when indicated (91.7%), discussed disease management (75.0%), and/or ordered additional genetic testing (58.3%), and some referred patients to other specialists (8.3%). CONCLUSIONS: Both patients and laboratory physicians concede the advantage of GC performed by clinical geneticists; however, the practice of GC involves several challenges and raises some concerns. The cost and support required to implement GC need to be addressed in order to provide qualified GC in Korea.

2.
Clin Lab ; 65(6)2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31232029

RESUMO

BACKGROUND: Anemia is a common cause among the elderly for increased mortality. Hemoglobin concentration can be affected by many factors, but the reference interval defined by the World Health Organization has not been adjusted for the previous half century. METHODS: Through using the dataset generated by the National Health Insurance (NHI) health screening program of Republic of Korea, here we attempt to present a close to actual hemoglobin concentration of the Korean population. Between January 2009 and December 2013, a total of 57,409,872 health screening events were registered in the NHI database. Following the exclusion criteria, 6,759,566 participants were enrolled for analyses. RESULTS: Significant portion of the study population was considered 'anemic', while the mean value (2.5% ~ 97.5%) of hemoglobin concentration from the study was 14.8 (12.5 ~ 16.8) g/dL in men and 12.8 (10.6 ~ 14.7) g/ dL in women. Concordant results of hemoglobin concentration declining with age were observed as previous studies have described, supporting the need for separate, possibly lower cutoff in the elderly. CONCLUSIONS: A considerable portion of the participants being categorized as anemia contests the accuracy of the current lower cutoff for anemia. From a large representative dataset, the need for adjustment to the lower cutoff for anemia is suggested.


Assuntos
Anemia/sangue , Hemoglobinas/análise , Programas de Rastreamento/métodos , Programas Nacionais de Saúde/estatística & dados numéricos , Sistema de Registros/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Anemia/diagnóstico , Anemia/etnologia , Grupo com Ancestrais do Continente Asiático/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , República da Coreia , Adulto Jovem
5.
Ann Lab Med ; 38(2): 147-154, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29214759

RESUMO

BACKGROUND: JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion. Mutation quantification is useful for classifying patients with MPN into subgroups and for prognostic prediction. Droplet digital PCR (ddPCR) can provide accurate and reproducible quantitative analysis of DNA. This study was designed to verify the correlation of ddPCR with pyrosequencing results in the diagnosis of MPN and to investigate clinical implications of the mutational burden. METHODS: Peripheral blood or bone marrow samples were obtained from 56 patients newly diagnosed with MPN or previously diagnosed with MPN but not yet indicated for JAK2 inhibitor treatment between 2012 and 2016. The JAK2 V617F mutation was detected by pyrosequencing as a diagnostic work-up. The same samples were used for ddPCR to determine the correlation between assays and establish a detection sensitivity cut-off. Clinical and hematologic aspects were reviewed. RESULTS: Forty-two (75%) and 46 (82.1%) patients were positive for JAK2 V617F by pyrosequencing and ddPCR, respectively. The mean mutated allele frequency at diagnosis was 37.5±30.1% and was 40.7±31.2% with ddPCR, representing a strong correlation (r=0.9712, P<0.001). Follow-up samples were available for 12 patients, including eight that were JAK2 V617F-positive. Of these, mutational burden reduction after treatment was observed in six patients (75%), consistent with trends of hematologic improvement. CONCLUSIONS: Quantitative analysis of the JAK2 V617F mutation using ddPCR was highly correlated with pyrosequencing data and may reflect the clinical response to treatment.


Assuntos
Janus Quinase 2/genética , Transtornos Mieloproliferativos/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Sequência de Bases , Medula Óssea/patologia , Feminino , Frequência do Gene , Genótipo , Humanos , Gotículas Lipídicas/química , Masculino , Pessoa de Meia-Idade , Mutação , Transtornos Mieloproliferativos/genética , Transtornos Mieloproliferativos/patologia , Reação em Cadeia da Polimerase , Análise de Sequência de DNA
6.
Yonsei Med J ; 58(6): 1241-1244, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29047251

RESUMO

Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient with a novel 1.13 Mb direct interstitial duplication within 19q13.32, which is the smallest fragment affected so far. A five-year old Korean boy of healthy parents presented with microcephaly, growth retardation, developmental delay, and craniofacial dysmorphism. Even though G-banded chromosome analysis at resolution of 550-band revealed normal karyotype, duplication of 1.13 Mb fragment within 19q13.32 was detected by array comparative genomic hybridization. Comparing with previously reported patients with pure duplication involving 19q as a sole chromosomal abnormality, our case showed the smallest duplication segment with relatively mild degree of clinical features. Our present case might serve as the landmark case among patients with 19q duplication for genotype-phenotype correlation study and further identification of critical region for 19q duplication abnormalities.


Assuntos
Cromossomos Humanos Par 19/genética , Deficiências do Desenvolvimento/genética , Duplicação Gênica , Microcefalia/genética , Pré-Escolar , Aberrações Cromossômicas , Bandeamento Cromossômico , Hibridização Genômica Comparativa , Regulação da Expressão Gênica no Desenvolvimento , Estudos de Associação Genética , Humanos , Masculino , Trissomia
7.
Sci Rep ; 7(1): 2804, 2017 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-28584248

RESUMO

There has been controversy regarding the clinical utility of fecal occult blood test (FOBT) as a screening tool for colorectal cancer (CRC) in the general population. The purpose of this study was to examine the results of Korea national CRC screening using FOBT from 2006 to 2013 and to evaluate the implementation of the program. We analyzed the results of FOBT, colonoscopy, and the side effects during colonoscopy for the subjects (n = 20,609,909) from the Korea National Health Insurance Cancer Screening database. For evaluation of Korea national CRC screening program implementation over the 8-year period, we calculated uptake rate, FOBT positivity rate, and subsequent test compliance rate. The overall uptake rate was 30.1%, with an increasing pattern from 2006 to 2011. A relatively higher FOBT positivity rate (6.4%) and lower subsequent test compliance rate (46.6%) were observed in comparison to the results previously reported in Western countries. Side effects reported within 3 months period after colonoscopy accounted for 0.17% of all procedures, with bleeding being the most prevalent type. Although the implementation of CRC screening program using FOBT in Korea seems successful, trends in key indicators for Korea national CRC screening program should be monitored continuously.


Assuntos
Neoplasias Colorretais/epidemiologia , Detecção Precoce de Câncer , Sangue Oculto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais/diagnóstico , Detecção Precoce de Câncer/métodos , Feminino , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Programas Nacionais de Saúde , Vigilância da População , Reprodutibilidade dos Testes , República da Coreia/epidemiologia
8.
Clin Lab ; 63(5): 991-995, 2017 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-28627835

RESUMO

Cantú syndrome is characterized by congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia and is recognized as a rare syndrome. Although it has previously been reported that the majority of affected individuals have a relatively good prognosis, there are no reports on long-term follow up. Here we report the first case of Cantú syndrome in Korea and the associated changes in overall development with rehabilitation over several months.


Assuntos
Cardiomegalia/genética , Hipertricose/genética , Mutação de Sentido Incorreto , Osteocondrodisplasias/genética , Receptores Sulfonilureia/genética , Humanos , Mutação , República da Coreia
9.
Ann Hematol ; 96(3): 373-381, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28028559

RESUMO

Myeloproliferative neoplasms (MPNs), with an expected increment in number, impose substantial economic and social burdens. To this end, we conducted a nationwide population-based descriptive epidemiology study. We also investigated medical cost associated with MPNs. Prevalence was the highest for essential thrombocythemia (ET) (range 4.1-9.0 per 100,000), followed by polycythemia vera (PV) (range 2.8-5.4 per 100,000) and primary myelofibrosis (PMF) (range 0.5-0.9 per 100,000). ET incurred the highest cumulative total cost at US$35 million and the most frequent hospital visits, while PMF incurred the highest average cost per person at US$5000. The mean hemoglobin level was 16.9 ± 2.2 g/dL for PV males and 15.5 ± 2.7 g/dL for PV females. Further analyses on hemoglobin levels showed the true positive rate of PV from the significantly elevated hemoglobin group (defined as >18.5 g/dL for men and >16.5 g/dL for women) was 3.01% and that of MPNs was 3.1%. Here, we provide the biggest population-based report on MPN epidemiology that can readily be used as a representative Asian data.


Assuntos
Transtornos Mieloproliferativos/diagnóstico , Transtornos Mieloproliferativos/epidemiologia , Vigilância da População , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Vigilância da População/métodos , Prevalência , República da Coreia/epidemiologia , Estudos Retrospectivos
12.
Microbiol Immunol ; 56(6): 372-7, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22686191

RESUMO

We prepared mAb specific to the H1N1 2009 virus (H1N1 2009) to facilitate development of an RDT with enhanced sensitivity and specificity. Among these antibodies, we identified two clones--hybridomas 1H7E1 and 3A3H7-that specifically bound to H1N1 2009 (non-seasonal) and were very suitable for application to a diagnostic kit. The affinity constants (K(a)) of 1H7E1 and 3A3H7 were 1.10 × 10(10) and 2.35 × 10(10), respectively. To identify the antibodies, we performed ELISA and immunoblot analyses and found that 1H7E1 recognized a conformational epitope of HA while 3A3H7 recognized a linear epitope. In clinical evaluations using specimens from 215 patients, a lateral flow rapid testing kit comprising these mAb showed a sensitivity of 81.5% (75/92) and a specificity of 96.7% (119/123). Results using the RDT kit were well correlated with conventional RT-PCR methods as commonly and commercially used. Based on our findings, we believe that use of these mAb with a rapid evaluation kit could serve as a good diagnostic tool for H1N1 2009.


Assuntos
Anticorpos Monoclonais , Anticorpos Antivirais , Técnicas de Laboratório Clínico/métodos , Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Influenza Humana/diagnóstico , Influenza Humana/virologia , Virologia/métodos , Animais , Anticorpos Monoclonais/isolamento & purificação , Anticorpos Antivirais/isolamento & purificação , Afinidade de Anticorpos , Ensaio de Imunoadsorção Enzimática/métodos , Mapeamento de Epitopos , Feminino , Humanos , Immunoblotting/métodos , Vírus da Influenza A Subtipo H1N1/imunologia , Camundongos , Camundongos Endogâmicos BALB C , Sensibilidade e Especificidade
13.
Gene ; 499(2): 339-42, 2012 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-22446046

RESUMO

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease presenting with skin fibrofolliculomas, pulmonary cysts, primary spontaneous pneumothorax (PSP), and renal cancer. It is caused by germline mutations in the FLCN gene, which encodes folliculin. Here we report a novel in-frame deletion mutation p.F143del (c.427_429delTTC) in exon 6 of FLCN gene in the proband and her two sisters. The proband was a 40-year-old Korean woman who presented with right-sided pneumothorax and papular lesions on the face and neck area but without renal cancer. Her father also had a history of PSP and died of renal cancer at the age of 75. Her older sisters have been treated for recurrent PSP but did not have skin lesions suspicious of fibrofolliculoma. The relative expression of FLCN was significantly reduced in the proband and one of the sibling who was confirmed to have FLCN mutation. In-frame deletions in the FLCN gene have rarely been reported but have been shown to impose significant effect on protein stability of FLCN. Identification of a novel genotype in BHDS will provide clues to the phenotype-genotype relations and may aid in explaining the molecular pathogenesis of diseases related to FLCN mutation.


Assuntos
Pneumotórax/genética , Proteínas Proto-Oncogênicas/genética , Deleção de Sequência , Proteínas Supressoras de Tumor/genética , Grupo com Ancestrais do Continente Asiático/genética , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Linhagem , Pneumotórax/etnologia
14.
Ann Clin Lab Sci ; 42(1): 98-102, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22371917

RESUMO

We describe a case of a c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation in the gene encoding von Willebrand factor (vWF) in a Korean patient with von Willebrand disease (vWD) type 2A. The proband is a 37-year-old female who suffers from dysmenorrhea and menorrhagia. On laboratory testing, we found a low (0.01) vWF:RCo/Ag ratio, a decrease in high and intermediate molecular weight multimers from plasma, and abnormalities in the collagen binding capacity of plasma vWF, all of which were indicative of vWD type 2. Family studies revealed that her sister, son, and daughter also had a low vWF:RCo/ Ag ratio and a decrease in high molecular weight multimers from plasma. Genetic analyses showed that she and her three family members had the same heterozygous c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation. To our knowledge, this is the first report of the c.4825G>A (p.Gly1609Arg [Gly846Arg]) heterozygote mutation in Korean family members with vWD type 2A.


Assuntos
Substituição de Aminoácidos/genética , Grupo com Ancestrais do Continente Asiático/genética , Mutação de Sentido Incorreto/genética , Doença de von Willebrand Tipo 2/genética , Fator de von Willebrand/genética , Adulto , Sequência de Aminoácidos , Sequência de Bases , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , República da Coreia , Fator de von Willebrand/química
16.
Haematologica ; 97(2): 304-9, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21993689

RESUMO

BACKGROUND: The recent advent of genome-wide molecular platforms has facilitated our understanding of the human genome and disease, particularly copy number aberrations. We performed genome-wide single nucleotide polymorphism-array in hereditary coagulopathy to delineate the extent of copy number mutations and to assess its diagnostic utility. DESIGN AND METHODS: The study subjects were 17 patients with hereditary coagulopathy from copy number mutations in coagulation genes detected by multiple ligation-dependent probe amplification. Eleven had hemophilia (7 hemophilia A and 4 hemophilia B) and 6 had thrombophilia (4 protein S deficiency and 2 antithrombin deficiency). Single nucleotide polymorphism-array experiments were performed using Affymetrix Genome-Wide Human SNP arrays 6.0. RESULTS: Copy number mutations were identified by single nucleotide polymorphism-array in 9 patients, which ranged in length from 51 Kb to 6,288 Kb harboring 2 to ~160 genes. Single nucleotide polymorphism-array showed a neutral copy number status in 8 patients including 7 with either a single-exon copy number mutation or duplication mutations of PROS1. CONCLUSIONS: This study revealed unexpectedly heterogeneous lengths of copy number mutations underlying human coagulopathy. Single nucleotide polymorphism-array had limitations in detecting copy number mutations involving a single exon or those of a gene with homologous sequences such as a pseudogene.


Assuntos
Transtornos Herdados da Coagulação Sanguínea/genética , Variações do Número de Cópias de DNA , Heterogeneidade Genética , Genoma Humano , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo de Nucleotídeo Único , Adulto , Transtornos Herdados da Coagulação Sanguínea/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Adulto Jovem
17.
Ann Clin Lab Sci ; 41(4): 397-400, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22166512

RESUMO

Hereditary protein S (PS) deficiency (Gene ID: 5627; MIM # 176880) is a notable risk factor for recurrent venous thrombosis, inherited as an autosomal-dominant trait, either homozygous or heterozygous. It may be caused by point mutations in the gene (PROS1) encoding PS, which contains 15 exons on the chromosome 3q11.2. Only a few point mutations associated with the PROS1 gene in patients with hereditary PS deficiency have been reported. A 60-year-old woman was admitted for deep vein thrombosis (DVT) of the right lower extremity. Upon coagulation examination, both the free PS antigen level and the total PS antigen level were decreased, so the DNA-PCR products of all 15 exons, including the exon-intron boundaries of the PROS1, gene were directly sequenced. A substitution from guanine to adenine at position +5 of the donor splice site of intron 10 (c.1155+5G>A) was identified. Further familial study was performed, and the patient's older sister was revealed to have the same mutation; she was already taking warfarin due to diagnosed pulmonary thromboembolism. Here we report a G to A transition at position +5 of intron 10 from the splice donor site as a rare case of a patient with type I hereditary PS deficiency in Korea.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Proteínas Sanguíneas/genética , Mutação/genética , Deficiência de Proteína S/genética , Processamento de RNA/genética , Sequência de Bases , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , República da Coreia
18.
Am J Trop Med Hyg ; 85(6): 989-93, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22144432

RESUMO

Plasmodium falciparum and P. vivax malaria are endemic to many parts of the world and humans can be co-infected with both species. Because each Plasmodium species has different biological and clinical characteristics, accurate differentiation of the infecting species is essential for effective treatment. Therefore, we produced three monoclonal antibodies that recognize the lactate dehydrogenase of P. falciparum, P. vivax, or both to develop the first P. falciparum, P. vivax, and mixed-species infections malaria antigen detection kit. The detection limits of this kit were 150 and 250 parasites/µL for P. falciparum and P. vivax, respectively, and the kit was able to detect mixed-species infections. The sensitivity and specificity of this kit was assessed with 722 clinical specimens. Our results showed that its sensitivities for P. falciparum, P. vivax, and mixed-species infection were 96.5%, 95.3%, and 85.7%, respectively. In addition, its specificity was high (99.4%).


Assuntos
Antígenos de Protozoários/imunologia , Malária Falciparum/diagnóstico , Malária Vivax/diagnóstico , Plasmodium falciparum/imunologia , Plasmodium vivax/imunologia , Anticorpos Monoclonais/imunologia , Humanos , L-Lactato Desidrogenase/imunologia , Malária Falciparum/imunologia , Malária Vivax/imunologia , Kit de Reagentes para Diagnóstico/parasitologia , Sensibilidade e Especificidade
19.
Yonsei Med J ; 52(5): 845-50, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21786451

RESUMO

Thrombocytopenia-associated multiple organ failure (TAMOF) has a high mortality rate when not treated, and early detection of TAMOF is very important diagnostically and therapeutically. We describe herein our experience of early detection of TAMOF, using an automated hematology analyzer. From 498,390 inpatients, we selected 12 patients suspected of having peripheral schistocytosis, based on the results of red blood cell (RBC) parameters and a volume/hemoglobin concentration (V/HC) cytogram. We promptly evaluated whether the individual patients had clinical manifestations and laboratory findings were consistent with TAMOF. Plasma exchanges were then performed for each patient. All 12 patients had TAMOF. The mean values of RBC parameters were significantly higher in all of the patients than with the reference range, however, 3 patients had % RBC fragments within the reference range. The mean value of ADAMTS-13 activity was slightly lower in patients compared with the reference range. Of the 12 patients, remission was obtained in 9 patients (75%) within 4 to 5 weeks using plasma exchanges. Three patients died. An increased percentage of microcytic hyperchromic cells with anisocytosis and anisochromia indicated the presence of schistocytes, making it an excellent screening marker for TAMOF. Identification of TAMOF with RBC parameters and a V/HC cytogram is a facile and rapid method along with an automated hematology analyzer already in use for routine complete blood cell counting test.


Assuntos
Insuficiência de Múltiplos Órgãos/sangue , Insuficiência de Múltiplos Órgãos/diagnóstico , Trombocitopenia/sangue , Trombocitopenia/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Índices de Eritrócitos , Eritrócitos Anormais/patologia , Feminino , Testes Hematológicos , Hemoglobinas/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência de Múltiplos Órgãos/etiologia , Trombocitopenia/complicações
20.
Ann Clin Lab Sci ; 41(1): 89-92, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21325262

RESUMO

We describe a case of heparin binding site Arg79Cys mutation in the gene encoding antithrombin, SERPINC1, in a Korean patient with hereditary antithrombin (AT) deficiency. The patient was a 34-year-old Korean man who presented with deep vein thrombosis (DVT) in his right leg without precipitating factors. On outpatient evaluation, coagulation tests without anticoagulation revealed a decreased AT III activity level at 48%, but normal AT III antigen level at 103%, indicating type II AT deficiency. Family studies revealed that his father (62 years of age) had decreased AT activity (48%) but had normal AT antigen levels (116%), indicating that the proband had a paternally inherited type II AT deficiency. Direct sequencing of the SERPINC1 gene in the patient and his father revealed a heterozygotic missense mutation, a cytosine to thymine substitution at nucleotide position 235 in exon 2 of the SERPINC1 gene (p.Arg79Cys). To our knowledge, this is the first report of Arg79Cys heterozygote mutation in family members with venous thromboembolism.


Assuntos
Substituição de Aminoácidos/genética , Deficiência de Antitrombina III/genética , Antitrombina III/genética , Grupo com Ancestrais do Continente Asiático/genética , Heparina/metabolismo , Mutação de Sentido Incorreto/genética , Adulto , Sequência de Bases , Sítios de Ligação , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , República da Coreia
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