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1.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 413-416, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986041

RESUMO

Objective: To investigate the humanistic care consciousness and ability of outpatient and emergency nurses in tertiary Grade A hospitals in Zhengzhou City. Methods: In June 2021, a total of 345 outpatient and emergency nurses from 6 tertiary Grade A hospitals in Zhengzhou City were selected as the survey objects by random number table method. The humanistic care ability of outpatient and emergency nurses was investigated. Multiple linear regression analysis was used to analyze the related factors influencing the humanistic care ability of outpatient and emergency nurses. Results: The total score of humanistic care ability of outpatient and emergency nurses in Zhengzhou tertiary Grade A hospital was (194.18±30.53). The scores of humanistic care ability of outpatient and emergency nurses with different gender, age, educational background, professional title, length of service, night shift frequency, marital status, children's status, employment patterns and average monthly household income were significantly different (P<0.05). Regression analysis showed that education background, length of service, professional title and night shift frequency were independent influencing factors for outpatient and emergency nurses' humanistic care ability (β=0.243, 0.139, 0.163, -0.126, P<0.05) . Conclusion: At present, the humanistic care ability of outpatient and emergency nurses in tertiary Grade A hospitals in Zhengzhou City is still low. Education, length of service, professional title and night shift frequency are independent influencing factors affecting the humanistic care ability of nurses.


Assuntos
Criança , Humanos , Pacientes Ambulatoriais , Hospitais , Emprego , Inquéritos e Questionários , Enfermeiras e Enfermeiros
2.
Acta Pharmaceutica Sinica ; (12): 1495-1505, 2022.
Artigo em Chinês | WPRIM | ID: wpr-924740

RESUMO

Rhei Radix et Rhizoma is one of the most used medicinal materials in China. Its original species are Rheum palmatum, Rh. tanguticum, and Rh. officinale. Rhei Radix et Rhizoma derived from different original species are significantly different in their active ingredients and pharmacological effects. To develop an accurate, rapid, and specific identification method, we obtained the chloroplast genomes of the three original species by Illumina Novaseq sequencing. We designed specific DNA barcodes from the hypervariable regions, which can accurately identify the three original species. The experimental results showed that the total length of the chloroplast genomes of Rh. tanguticum, Rh. officinale and Rh. palmatum were 161 039 bp, 161 093 bp, and 161 136 bp, respectively. All the three genomes were represented as typical quadripartite structures. A total of 131 genes, including 86 protein-coding genes, 37 transfer RNA (tRNA) genes, and eight ribosomal RNA (rRNA) genes were identified from each chloroplast genome. Five pairs of primers based on the hypervariable regions were designed to efficiently amplify 42 samples. Results confirmed that five hypervariable regions, rps16-trnQ, psaA-ycf3, psbE-petL, ndhF-rpl32, and trnT-trnL, can be used as specific DNA barcodes for the identification of Rh. tanguticum, Rh. officinale, and Rh. palmatum. These results provided genetic information for further species identification of Rhei Radix et Rhizoma, and improve the safety of this clinical medication as well as standardize the market for Rhei Radix et Rhizoma.

3.
China Journal of Chinese Materia Medica ; (24): 1060-1066, 2021.
Artigo em Chinês | WPRIM | ID: wpr-879004

RESUMO

Rhei Radix et Rhizoma is a kind of commonly used Chinese medicinal materials. Due to the overharvesting, the wild resource is endangering. Large market demand caused severely adulterant of commercial Rhei Radix et Rhizoma medicinal materials and decoction pieces. This manuscript reviewed the advances of the original species authentication in the industrial chain of Rhei Radix et Rhizoma during the latest decade, including characteristics and microscopic features, phytochemical analysis on anthraquinones, and molecular authentication based on DNA barcoding. Accordingly, an original species authentication route for the industrial chain of Rhei Radix et Rhizoma was summarized:(1)the identification of seeds and seedlings by DNA barcoding;(2) the selection of high variable sites based on the chloroplast genome;(3)biomonitoring of the Rhei Radix et Rhizoma medicinal materials and decoction pieces by two-dimensional DNA barcode;(4)traceability of Chinese patent medicines by third-generation sequencing. In conclusion, the combination of molecular identification and traditional identification methods provides a new idea for the identification of the original species of Rhei Radix et Rhizoma in the industrial chain and a essential guidance for the research of drug safety and efficacy of Rhei Radix et Rhizoma.


Assuntos
Animais , Antraquinonas , Medicamentos de Ervas Chinesas , Raízes de Plantas , Rheum , Rizoma
4.
Acta Pharmaceutica Sinica ; (12): 1497-1508, 2021.
Artigo em Chinês | WPRIM | ID: wpr-887087

RESUMO

Adulterants and counterfeits were found in some of the commercial traditional Chinese medicine (TCM) decoctions in Hongjin Xiaojie Jiaonang, Hongjin Xiaojie Pian, and Chaihuang Keli during the national drug sampling inspection. However, it was difficult to determine the species of the adulterants and counterfeits by conventional testing methods. Therefore, a total of 184 samples of the TCM decoctions and raw materials belong to the prescriptions of above mentioned traditional Chinese patent medicines, including Bupleuri Radix, Bajiaolian, Heimayi, and Shufuchong, were collected and authenticated by DNA barcoding technology. 111 ITS2 sequences were obtained from 115 commercial TCM decoctions and raw materials of Bupleuri Radix, among which 71 were Bupleurum chinense, three were B. scorzonerifolium, and 31 were closely related species in the same genus. In addition, counterfeits derived from different genera, such as Ailanthus altissima (one sample), Saposhnikovia divaricate (two samples), and Solidago decurrens (three samples), were also detected. 21 ITS2 sequences were obtained from 22 commercial TCM raw materials of Bajiaolian, among which 15 were Diphylleia sinensis and six were Dysosma versipellis and other species in genus Dysosma. For 22 Heimayi samples, PCR amplification of COI sequence was failed due to genomic DNA degradation. Among 38 Shufuchong samples, 24 COI sequences were obtained and only nine of them were the genuine species (Armadillidium vulgare) recorded in the Chinese Pharmacopoeia, 11 were Porcellio laevis, two were Mongoloniscus sinensis, and two samples could not be identified due to the limitation of database. This study demonstrates that DNA barcoding technology is suitable for the species authentication of the decoctions of traditional Chinese patent medicine prescription. It is a conductive way for the establishment of traceability system for the whole TCM industrial chain.

5.
Acta Pharmaceutica Sinica ; (12): 879-889, 2021.
Artigo em Chinês | WPRIM | ID: wpr-876534

RESUMO

Although the guiding principles for molecular identification of traditional Chinese medicines (TCM) using DNA barcoding have been recorded in the Chinese Pharmacopoeia, there is still a lack of systematic research on its application to commercial TCM decoctions. In this study, a total of 212 commercial TCM decoctions derived from different medicinal parts such as root and rhizome, fruit and seed, herb, flower, leaf, cortex, and caulis were collected to verify applicability and accuracy of the method. DNA barcodes were successfully obtained from 75.9% (161/212) of the samples, while other samples failed to be amplified due to genomic DNA degradation. Among the 161 samples, 85.7% of them were identified as recorded species in the Chinese Pharmacopoeia (2020 edition). In addition, 14 samples could be identified as species recorded in the Chinese Pharmacopoeia and their closely related species in the same genus. Morphological identification for the unconfirmed samples showed that eight were genuine species and three were adulterants, while the other three were unidentifiable due to lack of morphological characteristics. Furthermore, the DNA barcodes of seven samples accurately mapped to the sequences of adulterants. Remarkably, counterfeit products were detected in two samples. These results demonstrate that DNA barcoding is suitable for the identification of commercial TCM decoctions. The method can effectively detect adulterants and is appropriate for use throughout the industrial chain of TCM production and distribution, and by the supervisory agencies as well.

6.
Laboratory Medicine Online ; : 52-57, 2020.
Artigo em Inglês | WPRIM | ID: wpr-782247

RESUMO

30 mg/g), the concordance rate, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of UACR, analyzed using MEDITAPE UC-11A, were 80.5, 97.5, 67.0, 70.3, and 97.1%, respectively. Using UPCR, analyzed via quantitative assay, as a reference to estimate proteinuria (UPCR >0.15 g/g), the concordance rate, sensitivity, specificity, PPV, and NPV of UPCR, analyzed using MEDITAPE UC-11A, were 86.7, 94.4, 81.5, 77.6, and 95.6%, respectively.CONCLUSIONS: UACR and UPCR, analyzed using MEDITAPE UC-11A, exhibited relatively high sensitivity and NPV, which is beneficial for laboratory screening for both albuminuria and proteinuria.


Assuntos
Humanos , Albuminúria , Doença Crônica , Hipertensão , Nefropatias , Programas de Rastreamento , Proteinúria , Insuficiência Renal Crônica , Sensibilidade e Especificidade
7.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 1233-1238, 2019.
Artigo em Chinês | WPRIM | ID: wpr-777858

RESUMO

@#Objective     To evaluate the clinical and follow-up results of the surgical treatment for hypertrophic obstructive cardiomyopathy associated with aortic stenosis. Methods     We retrospectively analyzed the clinical data of the patients with hypertrophic obstructive cardiomyopathy plus aortic stenosis in our hospital from February 2008 to October 2015. There were 4 males and 3 females aged 55.6 ± 7.5 years. All the patients were received concomitant aortic valvulopasty at the time of modified extended Morrow procedure. Echocardiographic data and major complications were recorded through the outpatient clinic and telephone. Results     The postoperative ventricular septal thickness, left ventricular outflow tract gradient and aortic gradient were significantly lower than those in preoperation with statistical differences (P<0.05). During the mean follow-up 25.6 ± 28.2 months period, 1 patient died of cerebral hemorrhage, 1 patient was implanted a permanent pacemaker, and 1 patient had a postoperative new-onset atrial fibrillation. All patients had a satisfied prosthetic valve function and the left ventricular outflow tract gradient. The patient's symptoms and heart function significantly improved postoperatively. Conclusion     For patients with hypertrophic obstructive cardiomyopathy associated with moderate to severe aortic stenosis, concomitant aortic valvulopasty at the time of modified extended Morrow procedure is an appropriate and effective treatment, which can significantly alleviate the clinical symptoms, and improve quality of life with a satisfied prognosis.

8.
The Journal of the Korean Society for Transplantation ; : 138-142, 2016.
Artigo em Coreano | WPRIM | ID: wpr-207932

RESUMO

Tacrolimus is one of the effective immunosuppressive drugs used after an organ transplant procedure. However, due to its narrow therapeutic range, its usefulness in preventing transplant rejection and minimizing nephrotoxicity is dependent on the monitoring of whole blood trough levels of tacrolimus. A 49-year-old kidney transplant recipient presenting with cough and general weakness was admitted to the hospital. Due to the patient's deeply compromised clinical condition, an immunosuppressive therapy was discontinued. Tacrolimus concentrations in the patient's whole blood samples were measured, using an automated chemiluminescent microparticle immunoassay (CMIA) instrument. Interference was suspected because tacrolimus concentrations after the discontinuation of tacrolimus dose were 20.9 and 18.2 ng/mL at day 2 and 3, respectively. Tacrolimus concentrations were 11.1 and 12.6 ng/mL, respectively, when re-tested using an antibody-conjugated magnetic immunoassay (ACMIA). We evaluated the relationship between the CMIA and ACMIA results, and calculated the expected values from the regression equation. Residuals were –8.4 and –4 ng/mL, respectively. There have been several cases with false detection of elevated tacrolimus concentrations using ACMIA; however, such falsely detected elevations using CMIA have rarely been reported. When unexpectedly high concentrations of tacrolimus are detected by CMIA in transplant patients, an immediate re-test using another technique might be necessary to rule out falsely elevated results.


Assuntos
Humanos , Pessoa de Meia-Idade , Tosse , Rejeição de Enxerto , Imunoensaio , Transplante de Rim , Rim , Luminescência , Tacrolimo , Transplantados , Transplantes
9.
Korean Journal of Blood Transfusion ; : 79-83, 2016.
Artigo em Coreano | WPRIM | ID: wpr-229071

RESUMO

We report a case of an intravascular hemolytic reaction attributable to anti-Jk(b) antibodies that were not detected using an enzyme phase antibody identification test. A 61-year-old male who had received two units of red blood cells was admitted to the emergency room because his urine was dark. LISS/Coombs gel column agglutination tests suggested the presence of anti-Jk(b) and anti-E antibodies. However, his serum was negative for the Jk(b) antigen when an enzyme phase test was performed. A positive reaction was evident, however, when EDTA-treated plasma was tested; this excluded any possible complement-mediated reaction. The patient was diagnosed with an intravascular hemolytic transfusion reaction, caused by anti-Jk(b), and was later discharged without specific complications after receiving antigen-negative blood transfusions.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Testes de Aglutinação , Anticorpos , Incompatibilidade de Grupos Sanguíneos , Transfusão de Sangue , Ácido Edético , Serviço Hospitalar de Emergência , Eritrócitos , Sistema do Grupo Sanguíneo Kidd , Plasma
10.
Laboratory Medicine Online ; : 188-195, 2015.
Artigo em Coreano | WPRIM | ID: wpr-55298

RESUMO

BACKGROUND: The XN-series (Sysmex, Japan) is the new hematology analyzer from Sysmex, with new channels to improve the accuracy of differential leukocyte count and platelet count in the low cell count range. We evaluated the analytical performance and low white blood cell (WBC) mode of the XN-2000. METHODS: Precision, linearity, and carryover were evaluated for the analyzer. We analyzed the accordance of complete blood count (CBC), reticulocyte count, and differential leukocyte count between the XN-2000 and XE-2100 (Sysmex), using 200 samples from normal controls and patients. For 80 samples with a WBC count 0.9800 for all CBC parameters except mean corpuscular hemoglobin concentration, mean platelet volume, and platelet distribution width, and >0.9900 for differential leukocyte count except monocytes and basophils. The low WBC mode provided accurate counts for neutrophils and lymphocytes, with r>0.9300 for samples with a WBC count of 0.1-1.5x10(9) cells/L. CONCLUSIONS: The XN-2000 showed good analytical performance and correlation with the existing model, the XE-2100. The XN-2000 provided accurate results for differential leukocyte count in samples with a WBC count of 0.1-1.5x10(9) cells/L, and reduced manual slide reviews.


Assuntos
Humanos , Basófilos , Contagem de Células Sanguíneas , Plaquetas , Contagem de Células , Índices de Eritrócitos , Hematologia , Contagem de Leucócitos , Leucócitos , Linfócitos , Volume Plaquetário Médio , Monócitos , Neutrófilos , Contagem de Plaquetas , Contagem de Reticulócitos
11.
Laboratory Medicine Online ; : 27-32, 2015.
Artigo em Coreano | WPRIM | ID: wpr-148920

RESUMO

BACKGROUND: Respiratory syncytial virus (RSV) is one of the most important causes of lower respiratory tract infection. The rapid antigen test is a simple, cheap, and quick method for RSV detection, however, it has an acknowledged low sensitivity. The aim of this study is to evaluate the diagnostic performance of the rapid antigen test by comparing it with a multiplex reverse transcription-PCR (RT-PCR). METHODS: A total of 557 nasopharyngeal aspirates or swabs that were submitted for both a rapid antigen test, Binax NOW RSV (Binax; Alere Scarborough, Inc., USA) and multiplex RT-PCR, Seeplex RV7 (Seegene Inc., Korea) were included in this study. We performed both tests according to the manufacturer's recommendations and analyzed the diagnostic performances of a rapid antigen tests based on the results of multiplex RT-PCR. RESULTS: Among the 557 specimens, the positive rates determined from the rapid antigen test and multiplex RT-PCR were 12.2% (N=68) and 25.1% (N=140), respectively. The relative sensitivity and specificity of the rapid antigen test were 46.4% and 99.3% based on the multiplex RT-PCR, respectively. Positive and negative predictive values were 95.6% and 84.7%, respectively. The diagnostic sensitivity was lower (28.6%) in children >36 months compared with children < or =36 months of age. Test sensitivity declined when RSV infection was accompanied by infection with other respiratory viruses. CONCLUSIONS: Binax NOW RSV exhibited good diagnostic performance, easy handling, and rapidity. However, it does have the possibility of false-negative results, and additional tests are needed when there is clinical suspicion of RSV infection.


Assuntos
Criança , Humanos , Vírus Sinciciais Respiratórios , Infecções Respiratórias , Sensibilidade e Especificidade
12.
Laboratory Medicine Online ; : 125-131, 2014.
Artigo em Coreano | WPRIM | ID: wpr-178088

RESUMO

BACKGROUND: In the early stages of non-Hodgkin lymphoma (NHL), it can be difficult to recognize minimal morphological changes in the bone marrow (BM). In particular, when the quality of the BM biopsy is poor, determining BM involvement is limited to microscopic findings on BM aspiration. In this study, we compared the results of clonal immunoglobulin (IG) gene rearrangements with BM morphology results in B-cell NHL patients who underwent BM analysis as a staging workup and evaluated the usefulness of the clonal IG gene rearrangements for staging. METHODS: Forty two B-cell NHL patients were analyzed. Clonal rearrangements of the IG heavy chain (IGH), kappa light chain (IGK) and lambda light chain (IGL) genes were detected using the IdentiClone(TM) Clonality assay (InVivoScribe Technologies, USA). Clinical characteristics and outcomes were evaluated based on the detection of monoclonal IG gene rearrangements. RESULTS: Monoclonal IG gene rearrangements were found in 9 of 42 patients (21.4%). Microscopic BM involvement was found in only 2 of 42 patients (4.8%). The monoclonality rate of IG genes in BM was correlated with clinical stage and the international prognostic index (P<0.01). Patients with monoclonal IG gene rearrangements in BM had a significantly higher relapse rate (P=0.014) and poorer overall survival at 2 yr (P<0.01). CONCLUSIONS: Clonality analysis of BM in B-cell NHL can contribute to identification of patients with occult BM involvement with a significantly poorer overall survival despite normal BM histology.


Assuntos
Humanos , Linfócitos B , Biópsia , Medula Óssea , Rearranjo Gênico , Genes de Imunoglobulinas , Imunoglobulinas , Linfoma não Hodgkin , Recidiva
13.
Neurology Asia ; : 363-366, 2014.
Artigo em Inglês | WPRIM | ID: wpr-628549

RESUMO

Episodic ataxia type 2 (EA-2) is a rare disorder presenting with paroxysmal vertigo and cerebellar dysfunction. EA-2 is known to be caused by mutations of the CACNA1A gene on chromosome 19q13. We examined a family of EA-2 with a novel mutation of the CACNA1A gene showing characteristic ocular symptoms. A-36-year woman visited our hospital with paroxysmal vertigo. When she experienced vertigo attack, she also suffered from gait disturbance, dysarthria, and ataxia. She complained that she could not ride in a car or a train that moved fast, because she could not visually follow the moving objects. Her mother, grandmother, and uncle also complained of similar symptoms. Video nystagmographic findings showed loss of optokinetic nystagmus. We found a novel missense mutation, R279C (c.835C>T), on exon 6 in the CACNAIA gene. This is the first report of a family with new mutation of EA-2 in Korea.

14.
Annals of Clinical Microbiology ; : 23-27, 2014.
Artigo em Inglês | WPRIM | ID: wpr-121391

RESUMO

Rapidly growing mycobacteria are ubiquitous in the environment and are increasingly being recognized as opportunistic pathogens. Recently, a new species, Mycobacteium conceptionense, has been validated from the Mycobacterium fortuitum third biovariant complex by molecular analysis. However, there are few reports, and postsurgical wound infection by this species is rare. We report a case of postsurgical wound infection caused by M. conceptionense in an immunocompetent patient that was identified by a sequencing analysis of 16S rRNA, hps65, and rpoB genes.


Assuntos
Humanos , Mycobacterium fortuitum , Mycobacterium , Infecção dos Ferimentos , Ferimentos e Lesões
15.
Korean Journal of Blood Transfusion ; : 169-172, 2012.
Artigo em Coreano | WPRIM | ID: wpr-101146

RESUMO

Lutheran a antigen (Lua) is detected in 6 to 8% of Caucasians and Africans. In Korean and other Asian populations, it is very rare or nearly absent. Therefore, although Lua has a considerable immunizing capacity, sensitization to Lua is a rare event. Here we report on a rare case of anti-Lua in a 70 year-old female patient with Lu (a-/b+) phenotype and review the relevant literature. Due to the paucity of Lua positive panel cells in antibody screening and identification tests, detection of this rare antibody to Lua antigen is not feasible. Therefore, we should keep in mind the possibility of the misleading false negative result in detection of antibody to this low incidence antigen.


Assuntos
Feminino , Humanos , Povo Asiático , Incidência , Sistema do Grupo Sanguíneo Lutheran , Programas de Rastreamento , Fenótipo , Protestantismo
16.
Laboratory Medicine Online ; : 166-169, 2012.
Artigo em Coreano | WPRIM | ID: wpr-145045

RESUMO

Hereditary spherocytosis (HS) is a genetic disorder characterized by the production and destruction of spherocytes due to a deficiency of red cell membrane cytoskeletal proteins, resulting in the clinical presentation of chronic hemolytic anemia. This disease can be accompanied by an aplastic crisis due to parvovirus B19 infection. Parvovirus B19 infection causes diseases such as erythema infectiosum and arthritis, and can also trigger various autoimmune diseases, including autoimmune hemolytic anemia (AIHA). Here, we report a rare case of AIHA developing 3 months after an aplastic crisis due to parvovirus B19 infection in an 11-year-old boy with HS and provide the relevant literature review.


Assuntos
Criança , Humanos , Anemia Hemolítica , Anemia Hemolítica Autoimune , Artrite , Doenças Autoimunes , Membrana Celular , Proteínas do Citoesqueleto , Eritema Infeccioso , Parvovirus , Esferócitos , Esferocitose Hereditária
17.
Laboratory Medicine Online ; : 166-169, 2012.
Artigo em Coreano | WPRIM | ID: wpr-145032

RESUMO

Hereditary spherocytosis (HS) is a genetic disorder characterized by the production and destruction of spherocytes due to a deficiency of red cell membrane cytoskeletal proteins, resulting in the clinical presentation of chronic hemolytic anemia. This disease can be accompanied by an aplastic crisis due to parvovirus B19 infection. Parvovirus B19 infection causes diseases such as erythema infectiosum and arthritis, and can also trigger various autoimmune diseases, including autoimmune hemolytic anemia (AIHA). Here, we report a rare case of AIHA developing 3 months after an aplastic crisis due to parvovirus B19 infection in an 11-year-old boy with HS and provide the relevant literature review.


Assuntos
Criança , Humanos , Anemia Hemolítica , Anemia Hemolítica Autoimune , Artrite , Doenças Autoimunes , Membrana Celular , Proteínas do Citoesqueleto , Eritema Infeccioso , Parvovirus , Esferócitos , Esferocitose Hereditária
18.
The Korean Journal of Laboratory Medicine ; : 127-129, 2011.
Artigo em Inglês | WPRIM | ID: wpr-175678

RESUMO

The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partners. We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever. A diagnosis of AML was made on the basis of the morphological evaluation and immunophenotyping of bone marrow specimens. Flow cytometric immunophenotyping showed blasts positive for myeloid lineage markers and aberrant CD19 expression. Karyotypic analysis showed 46,XX,t(1;9;11)(p34.2;p22;q23) in 19 of the 20 cells analyzed. This abnormality was involved in MLL/MLLT3 rearrangement, which was confirmed by qualitative multiplex reverse transcription-PCR and interphase FISH. She achieved morphological and cytogenetic remission after 1 month of chemotherapy and remained event-free for 6 months. Four cases of t(1;9;11)(v;p22;q23) have been reported previously in a series that included cases with other 11q23 abnormalities, making it difficult to determine the distinctive clinical features associated with this abnormality. To our knowledge, this is the first description of t(1;9;11) with clinical and laboratory data, including the data for the involved genes, MLL/MLLT3.


Assuntos
Pré-Escolar , Feminino , Humanos , Antígenos CD19/metabolismo , Células da Medula Óssea/patologia , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 11 , Cromossomos Humanos Par 9 , Imunofenotipagem , Hibridização in Situ Fluorescente , Cariotipagem , Leucemia Mieloide Aguda/diagnóstico , Proteína de Leucina Linfoide-Mieloide/genética , Proteínas Nucleares/genética , Translocação Genética
19.
The Korean Journal of Laboratory Medicine ; : 70-75, 2010.
Artigo em Coreano | WPRIM | ID: wpr-82765

RESUMO

BACKGROUND: The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight facial dysmorphism. In most cases, the microdeletion spans a 1.6-Mb region between low-copy repeats (LCRs). We identified a novel 4.0- Mb deletion using oligonucleotide array comparative genomic hybridization (array CGH) in monozygotic twin sisters. METHODS: G-banded chromosome analysis was performed in the twins and their parents. Highresolution oligonucleotide array CGH was performed using the human whole genome 244K CGH microarray (Agilent Technologies, USA) followed by validation using FISH, and the obtained results were analyzed using the genome database resources. RESULTS: G-banding revealed that the twins had de novo 46,XX,del(3)(q29) karyotype. Array CGH showed a 4.0-Mb interstitial deletion on 3q29, which contained 39 genes and no breakpoints flanked by LCRs. In addition to the typical characteristics of the 3q29 microdeletion syndrome, the twins had attention deficit-hyperactivity disorder, strabismus, congenital heart defect, and gray hair. Besides the p21-activated protein kinase (PAK2) and discs large homolog 1 (DLG1) genes, which are known to play a critical role in mental retardation, the hairy and enhancer of split 1 (HES1) and antigen p97 (melanoma associated; MFI2) genes might be possible candidate genes associated with strabismus, congenital heart defect, and gray hair. CONCLUSIONS: The novel 4.0-Mb 3q29 microdeletion found in the twins suggested the occurrence of genomic rearrangement mediated by mechanisms other than nonallelic homologous recombination. Molecular genetic and functional studies are required to elucidate the contribution of each gene to a specific phenotype.


Assuntos
Adolescente , Feminino , Humanos , Proteínas Adaptadoras de Transdução de Sinal/genética , Transtorno do Deficit de Atenção com Hiperatividade/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 3 , Hibridização Genômica Comparativa/métodos , Doenças em Gêmeos/genética , Proteínas de Homeodomínio/genética , Hibridização in Situ Fluorescente , Antígenos Específicos de Melanoma/genética , Proteínas de Membrana/genética , Análise de Sequência com Séries de Oligonucleotídeos , Síndrome , Gêmeos , Quinases Ativadas por p21/genética
20.
The Korean Journal of Laboratory Medicine ; : 1-8, 2010.
Artigo em Coreano | WPRIM | ID: wpr-121794

RESUMO

BACKGROUND: TEL (ETV6)/AML1 (RUNX1) rearrangement is observed in approximately 20-25% of childhood precursor B-ALL and is associated with a favorable outcome. Additional genetic changes, associated with TEL/AML1, are frequently found. We evaluated the prevalence and prognostic significance of TEL/AML1 rearrangement and additional genetic changes in the TEL and AML1 genes in Korean childhood precursor B-ALL. METHODS: We performed FISH using LSITEL/AML1 ES probe (Vysis, USA) in 123 children diagnosed as having precursor B-ALL and assessed clinical relevance of the TEL/AML1 rearrangement and additional genetic abnormalities. RESULTS: The frequency of TEL/AML1 was 17.1% (21/123) in patients with precursor B-ALL. TEL/ AML1-positive group showed male predominance (P=0.012) and younger age of onset than TEL/ AML1-negative group by 1.6 yr (P=0.013). The outcome of TEL/AML1-positive group tended to show lower incidences of relapse (1/21 vs 20/102), death (1/21 vs 17/102) and longer event free survival. Among TEL/AML1-positive patients, unrearranged TEL deletion, AML1 gain, and unrearranged TEL deletion combined with AML1 gain were detected in 61.9%, 23.8%, and 9.5%, respectively. There were no significant differences in the clinical features and outcome according to the presence or absence of additional genetic changes. CONCLUSIONS: The frequency of TEL/AML1 and additional genetic changes in TEL and AML1 is higher than previous studies in Korean children, and in close agreement with usually reported one, 20-25%. TEL/AML1-positive group showed a tendency toward better prognosis. Further study is needed to clarify the prognostic significance of additional changes in TEL and AML1 based on a large sample size.


Assuntos
Criança , Pré-Escolar , Feminino , Humanos , Masculino , Fatores Etários , Povo Asiático/genética , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Intervalo Livre de Doença , Deleção de Genes , Hibridização in Situ Fluorescente , Cariotipagem , Contagem de Leucócitos , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Prognóstico , Proteínas Proto-Oncogênicas c-ets/genética , Proteínas Repressoras/genética , República da Coreia , Taxa de Sobrevida , Translocação Genética
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