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1.
Heliyon ; 10(14): e34313, 2024 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-39114039

RESUMO

The research delves into the perceptions regarding the necessary assistance and support required for the development of river tourism along the Petagas-Putatan River. An exploratory qualitative with a total of four focus group discussions consisting of a total of 13 local communities, two local authorities and two local representatives of the district. Assistances needed include financial, tourism trainings related to river tourism and safety, planning and itineraries, customer services, marketing, and promotion. Tourist facilities - jetties, roads, sidewalks, parking lots and retail stalls for food, drinks and souvenirs are vital support for developing river tourism. The condition of the river and local communities' attitudes towards river cleanliness are the key issues. It contributes to the development of river tourism along river Petagas-Putatan, provide practical implications for river tourism development.

2.
Heliyon ; 9(7): e18403, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37539243

RESUMO

This paper reports the empirical findings of experience attributes and service quality dimensions of peer-to-peer accommodation (P2P) in Malaysia. Data collection was conducted using in-depth interviews, which involved 10 P2P accommodation hosts and 15 P2P accommodation guests. Thematic analysis of the data guided by the concepts of service experience and service quality, revealed that P2P accommodation has four experience dimensions (property/accommodation, hosts, local people/culture, and location) and seven service quality dimensions (home facilities, personal advice, helpfulness, feeling welcome, responsiveness, reliability, and caring). These dimensions differentiate P2P accommodation from other types of accommodation, such as hotels, and are different from those of the SERVQUAL model. Subsequently, a new model, P2PSERVQUAL, is proposed for peer-to-peer accommodation. The findings add to the tourism and hospitality literature on experience attributes and service quality, with implications for the marketing and management of P2P accommodation.

3.
J Biol Chem ; 286(1): 309-21, 2011 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-20956521

RESUMO

Little is currently known about the infectious entry process of human enterovirus 71 (HEV71) into host cells, which may represent potential anti-viral targeting sites. In this study a targeted small-interfering RNA (siRNA) screening platform assay was established and validated to identify and profile key cellular genes involved in processes of endocytosis, cytoskeletal dynamics, and endosomal trafficking essential for HEV71 infection. Screen evaluation was conducted via the expression of well characterized dominant-negative mutants, bioimaging studies (double-labeled immunofluorescence assays, transmission electron microscopy analysis), secondary siRNA-based dosage dependence studies, and drug inhibition assays. The infectious entry of HEV71 into rhabdomyosarcoma cells was shown to be significantly inhibited by siRNAs targeting genes associated with clathrin-mediated endocytosis (CME) that include AP2A1, ARRB1, CLTC, CLTCL1, SYNJ1, ARPC5, PAK1, ROCK1, and WASF1. The functional role of CME was verified by the observation of strong co-localization between HEV71 particles and clathrin as well as dose-dependent inhibition of HEV71 infection upon siRNA knockdown of CME-associated genes. HEV71 entry by CME was further confirmed via inhibition by dominant-negative EPS15 mutants and treatment of CME drug inhibitors, with more than 80% inhibition observed at 20 µm chlorpromazine. Furthermore, HEV71 infection was shown to be sensitive to the disruption of human genes in regulating early to late endosomal trafficking as well as endosomal acidic pH. The identification of clathrin-mediated endocytosis as the entry pathway for HEV71 infection of susceptible host cells contributes to a better understanding of HEV71 pathogenesis and enables future development of anti-viral strategies against HEV71 infection.


Assuntos
Clatrina/metabolismo , Endocitose , Enterovirus Humano A/fisiologia , Infecções por Enterovirus/metabolismo , Infecções por Enterovirus/patologia , Internalização do Vírus , Actinas/química , Actinas/metabolismo , Linhagem Celular Tumoral , Membrana Celular/metabolismo , Infecções por Enterovirus/genética , Técnicas de Silenciamento de Genes , Biblioteca Gênica , Humanos , Mutação , Multimerização Proteica , Estrutura Quaternária de Proteína , RNA Interferente Pequeno/genética , Reprodutibilidade dos Testes
4.
Artigo em Inglês | MEDLINE | ID: mdl-20871816

RESUMO

Thalassemia can lead to severe transfusion-dependent anemia, and it is the most common genetic disorder in Malaysia. This paper aims to determine the prevalence of thalassemia in the Kadazandusuns, the largest indigenous group in Sabah, East Malaysia. α- and ß-thalassemia were confirmed in 33.6% and 12.8%, of the individuals studied respectively. The high prevalence of α- and ß-thalassemia in the Kadazandusuns indicates that thalassemia screening, genetic counseling, and prenatal diagnosis should be included as part of their healthcare system. This preliminary paper serves as a baseline for further investigations into the health and genetic defects of the major indigenous population in Sabah, East Malaysia.


Assuntos
Grupos Populacionais/estatística & dados numéricos , Talassemia alfa/epidemiologia , Talassemia beta/epidemiologia , Comorbidade , Humanos , Malásia/epidemiologia , Prevalência , Medição de Risco , Fatores de Risco
5.
Pathobiology ; 77(2): 96-105, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20332669

RESUMO

OBJECTIVES: This study aimed to examine (1) the expression of P16 protein relative to sites of presentation, immunophenotypic subgroups and proliferative indices of tumour cells, and (2) the relationship between p16 gene alterations and P16 protein overexpression in 70 cases of diffuse large B cell lymphoma (DLBCL). METHODS: Expression of P16, CD10, BCL-6, MUM-1 and proliferation marker (Ki-67) was demonstrated by immunohistochemistry. Fluorescence in situ hybridization (FISH) was employed to detect p16 alterations. RESULTS: P16 overexpression was shown in 45.7% (32/70) of the DLBCL cases, and was significantly correlated with CD10 (p = 0.022) and germinal centre B-cell-like (GCB) phenotype (p = 0.022). High expression of P16 was inversely associated with high proliferative activity (Ki-67 index greater than 75%) (p = 0.020). Of the 47 cases that yielded interpretable FISH results, 57.4% (27/47) showed deletions of p16 and 27.7% (13/47) showed gains of p16. P16 overexpression and p16 deletions were mutually exclusive (p = 0.019). There was no correlation between P16 overexpression and p16 gains (p = 0.621). CONCLUSIONS: The GCB and non-GCB subgroups of DLBCLs show different patterns of P16 expression. High levels of P16 may mitigate tumour cell proliferation. Gains of p16 do not necessarily increase P16 protein expression.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Regulação Neoplásica da Expressão Gênica , Genes p16 , Linfoma Difuso de Grandes Células B/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Proliferação de Células , Criança , Pré-Escolar , Inibidor p16 de Quinase Dependente de Ciclina/genética , Feminino , Humanos , Técnicas Imunoenzimáticas , Hibridização in Situ Fluorescente , Linfoma Difuso de Grandes Células B/genética , Linfoma Difuso de Grandes Células B/patologia , Masculino , Pessoa de Meia-Idade
6.
Genomics Inform ; 18(1): e8, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32224841

RESUMO

The explosive growth of next-generation sequencing data has resulted in ultra-large-scale datasets and ensuing computational problems. In Korea, the amount of genomic data has been increasing rapidly in the recent years. Leveraging these big data requires researchers to use large-scale computational resources and analysis pipelines. A promising solution for addressing this computational challenge is cloud computing, where CPUs, memory, storage, and programs are accessible in the form of virtual machines. Here, we present a cloud computing-based system, Bio-Express, that provides user-friendly, cost-effective analysis of massive genomic datasets. Bio-Express is loaded with predefined multi-omics data analysis pipelines, which are divided into genome, transcriptome, epigenome, and metagenome pipelines. Users can employ predefined pipelines or create a new pipeline for analyzing their own omics data. We also developed several web-based services for facilitating downstream analysis of genome data. Bio-Express web service is freely available at https://www.bioexpress.re.kr/.

7.
Genes Genet Syst ; 84(1): 67-71, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19420802

RESUMO

Co-inheritance of alpha-thalassemia with homozygosity or compound heterozygosity for beta-thalassemia may ameliorate beta-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of alpha-thalassemia alleles (-alpha/alphaalpha --/alphaalpha, --/-alpha). The co-inheritance of beta-thalassemia with alpha-thalassemia with a single gene deletion (-alpha/alphaalpha) is usually associated with thalassemia major. In contrast, the co-inheritance of beta-thalassemia with two alpha-genes deleted in cis or trans (--/alphaalpha or -alpha/-alpha) generally produces beta-thalassemia intermedia. In Southeast Asia, the most common defect responsible for alpha-thalassemia is the Southeast Asian (SEA) deletion of 20.5 kilobases. The presence of the SEA deletion with Hb Constant Spring (HbCS) produces HbH-CS disease. Co-inheritance of HbH-CS with compound heterozygosity for beta-thalassemia is very rare. This study presents a Malay patient with HbH-CS disorder and beta degrees/beta+-thalassemia. The SEA deletion was confirmed in the patient using a duplex-PCR. A Combine-Amplification Refractory Mutation System (C-ARMS) technique to simultaneously detect HbCS and Hb Quong Sze confirmed HbCS in the patient. Compound heterozygosity for CD41/42 and Poly A was confirmed using the ARMS. This is a unique case as the SEA alpha-gene deletion in cis (--SEA/alphaalpha) is generally not present in the Malays, who more commonly possess the two alpha-gene deletion in trans (-alpha/-alpha). In addition, the beta-globin gene mutation at CD41/42 is a common mutation in the Chinese and not in the Malays. The presence of both the SEA deletion and CD41/42 in the mother of the patient suggests the possible introduction of these two defects into the family by marriage with a Chinese.


Assuntos
Hemoglobinas Anormais/genética , Talassemia alfa/diagnóstico , Talassemia alfa/genética , Talassemia beta/diagnóstico , Talassemia beta/genética , Povo Asiático , Sequência de Bases/genética , Análise Mutacional de DNA/métodos , Feminino , Humanos , Lactente , Malásia , Masculino , Linhagem , Deleção de Sequência , Talassemia alfa/complicações , Talassemia beta/complicações
8.
Eur J Pediatr ; 168(9): 1049-54, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19034506

RESUMO

INTRODUCTION: Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G-->A). MATERIALS AND METHODS: HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia. RESULTS AND DISCUSSION: Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA. CONCLUSION: The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother.


Assuntos
Códon/genética , Hemoglobinas Anormais/genética , Fenótipo , Mutação Puntual/genética , Talassemia beta/genética , Alelos , Transfusão de Sangue , Análise Mutacional de DNA , Primers do DNA/genética , Feminino , Expressão Gênica , Frequência do Gene , Variação Genética , Genótipo , Hepatomegalia/complicações , Humanos , Lactente , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Sítios de Splice de RNA , Esplenomegalia/complicações , Talassemia beta/complicações , Talassemia beta/terapia
9.
Malays J Med Sci ; 16(3): 21-8, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22589661

RESUMO

BACKGROUND: The interaction of the non-deletional α(+)-thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population. METHODS: DNA from two families with Haemoglobin H disease was extracted from EDTA-anticoagulated whole blood and subjected to molecular analysis for α-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian α-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine-amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction. RESULTS AND CONCLUSIONS: The combine-amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA.

10.
Hum Pathol ; 37(1): 92-100, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16360421

RESUMO

Deregulation of several genes involved in cell cycle control has been reported in classic Hodgkin lymphoma (cHL). This study aimed to investigate the expression of tumor suppressor proteins (P16(INK4A), retinoblastoma protein, and p53) in cHL in relation to the proliferation and apoptosis of Hodgkin/Reed-Sternberg (H/RS) cells, correlating with the status of Epstein-Barr virus (EBV). A total of 66 cHL cases and 10 nonneoplastic reactive lymphoid tissues were retrieved from the archives. Immunohistochemistry technique was used for the detection of protein expression. Presence of EBV infection was detected by EBV early RNA in situ hybridization. p16(INK4A) gene deletion status was assessed by fluorescence in situ hybridization technique. Expression of P16(INK4A) was observed in 49.2% of the cases, whereas positive retinoblastoma protein and p53 expressions in the H/RS cells were detected in 89.1% and 81.5% of the cases, respectively. Epstein-Barr virus positivity was detected in 53.0% of the cases. Proliferation marker, Ki-67 expression, was observed in 86.7% of the cases. There was no significant correlation between the expression of the various tumor suppressor proteins and Ki-67. Retinoblastoma protein and p53 were also not associated with the presence of EBV. An inverse relationship was observed between the expression of P16(INK4A) and the presence of EBV. There were no significant homozygous or hemizygous deletions of the p16(INK4A) gene. However, an aberrant copy number of chromosome 9 with the loss of one or more p16(INK4A) loci was detected in all cases assessable by fluorescence in situ hybridization. Loss of function of one or more tumor suppressor proteins may be involved in defective cell regulation of H/RS cells. Epstein-Barr virus may have a role in inhibiting P16(INK4A) expression, thus resulting in a perturbed p16(INK4A)-Rb cell cycle checkpoint.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Infecções por Vírus Epstein-Barr/metabolismo , Herpesvirus Humano 4/isolamento & purificação , Doença de Hodgkin/metabolismo , Proteína do Retinoblastoma/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Adolescente , Apoptose , Biomarcadores Tumorais/metabolismo , Ciclo Celular/genética , Proliferação de Células , Inibidor p16 de Quinase Dependente de Ciclina/genética , Infecções por Vírus Epstein-Barr/patologia , Infecções por Vírus Epstein-Barr/virologia , Deleção de Genes , Herpesvirus Humano 4/genética , Doença de Hodgkin/patologia , Doença de Hodgkin/virologia , Humanos , Hibridização in Situ Fluorescente , Marcação In Situ das Extremidades Cortadas , Antígeno Ki-67/metabolismo , Proteína do Retinoblastoma/genética
11.
Pathology ; 38(5): 437-41, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17008283

RESUMO

AIMS: In Malaysia, about 4.5% of the Malay and Chinese populations are heterozygous carriers of beta-thalassaemia. The initial identification of rare beta-globin gene mutations by genomic sequencing will allow the development of simpler and cost-effective PCR-based techniques to complement the existing amplification refractory mutation system (ARMS) and gap-PCR used for the identification of beta-thalassaemia mutations. METHODS: DNA from 173 beta-thalassaemia carriers and five beta-thalassaemia major patients from the Malay, Chinese and Indian ethnic groups were first analysed by ARMS and gap-PCR. Ninety-five per cent (174/183) of the 183 beta-globin genes studied were characterised using these two techiques. The remaining nine uncharacterised beta-globin genes (4.9%) were analysed using genomic sequencing of a 904 bp amplified PCR product consisting of the promoter region, exon 1, intervening sequence (IVS) 1, exon 2 and the 5' IVS2 regions of the beta-globin gene. RESULTS: The rare beta-globin mutations detected in the Chinese patients were CD27/28 (+C) and CD43 (GAG-TAG), and -88 (C-T) in an Indian patient. Beta-globin mutations at CD16 (-C), IVS1-1 (G-A), IVS2-1 (G-A), -86 (C-G) and Haemoglobin South Florida (CD1, GTG-ATG) were confirmed in the Malay patients. CONCLUSIONS: The seven rare beta-globin mutations and a rare haemoglobin variant confirmed in this study have been described in other populations but have not been previously described in Malaysian beta-thalassemia patients.


Assuntos
Povo Asiático/genética , Mutação , Talassemia beta/etnologia , Talassemia beta/genética , China/etnologia , Análise Mutacional de DNA , Genótipo , Heterozigoto , Humanos , Índia/etnologia , Malásia/epidemiologia , Reação em Cadeia da Polimerase , Talassemia beta/patologia
12.
Malays J Pathol ; 28(1): 17-21, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17694955

RESUMO

The molecular basis of variable phenotypes in P-thalassaemia patients with identical genotypes has been associated with co-inheritance of alpha-thalassaemia and persistence of HbF production in adult life. The Xmn I restriction site at -158 position of the Ggamma-gene is associated with increased expression of the Ggamma-globin gene and higher production of HbF This study aims to determine the frequency of the digammaferent genotypes of the Ggamma Xmn I polymorphism in P-thalassaemia patients in two ethnic groups in Malaysia. Molecular characterisation and frequency of the Ggamma Xmn I polymorphism were studied in fifty-eight Chinese and forty-nine beta-thalassaemia Malay patients by Xmn I digestion after DNA amplification of a 650 bp sequence. The in-house developed technique did not require further purification or concentration of amplified DNA before restriction enzyme digestion. The cheaper Seakem LE agarose was used instead of Nusieve agarose and distinct well separated bands were observed. Genotyping showed that the most frequent genotype observed in the Malaysian Chinese was homozygosity for the absence of the Xmn I site (-/-) (89.7%). In the Malays, heterozygosity of the Xmn I site (+/-) was most common (63.3%). Homozygosity for the Xmn I site (+/+) was absent in the Chinese, but was confirmed in 8.2% of the Malays. The ratio of the (+) allele (presence of the Xmn I site) to the (-) allele (absence of the Xmn I site)) was higher in the Malays (0.66) compared to the Chinese (0.05). The (+/-) and (+/+) genotypes are more commonly observed in the Malays than the Chinese in Malaysia.


Assuntos
Desoxirribonucleases de Sítio Específico do Tipo II/genética , Reação em Cadeia da Polimerase/métodos , Polimorfismo Genético , Talassemia beta/genética , Povo Asiático , Humanos , Malásia/etnologia
13.
Pathology ; 34(5): 446-50, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12408344

RESUMO

AIMS: Epstein-Barr virus (EBV) is associated with many human malignancies. It is implicated in a pathogenetic role in some of these tumours. Two subtypes, type A and B have been identified on the basis of DNA sequence divergence in the nuclear protein genes (EBNA) 2, 3, 4 and 6. They differ in their transforming efficiency and prevalence pattern in different geographical locations. We aimed to identify the virus subtype infection pattern in our EBV-associated diseases. METHODS: Paraffin-embedded tissue from 38 lymphomas (17 Hodgkin's, 14 Burkitt's, four T cell and 3 B cell non-Hodgkin's lymphomas) and 14 nasopharyngeal carcinomas (NPC) were studied, with 12 reactive lymph nodes and tonsils as normal control. EBER in situ hybridisation was performed to confirm EBV association in the tumour cells. A nested polymerase chain reaction (PCR) protocol was employed using two pairs of consensus primers which flanked a 105-bp deletion in the type A virus. U2 region encoding for EBNA-2 was chosen as the target of amplification, with cell lines B95.8 and AG876 serving as positive controls for types A and B virus, respectively. RESULTS: All cases showed presence of type A virus, consistently detected with nested PCR protocol but not with single step PCR. There was no type B virus or mix infections detected. CONCLUSIONS: Nested PCR technique has successfully increased the sensitivity of EBV subtype detection, and type A virus is the prevalent strain associated with human diseases in Malaysia.


Assuntos
Carcinoma/virologia , Infecções por Vírus Epstein-Barr/complicações , Herpesvirus Humano 4/isolamento & purificação , Linfoma/virologia , Neoplasias Nasofaríngeas/virologia , Adolescente , Adulto , Carcinoma/patologia , Criança , DNA de Neoplasias/análise , Eletroforese em Gel de Ágar , Infecções por Vírus Epstein-Barr/patologia , Antígenos Nucleares do Vírus Epstein-Barr/análise , Antígenos Nucleares do Vírus Epstein-Barr/genética , Herpesvirus Humano 4/classificação , Herpesvirus Humano 4/genética , Humanos , Hibridização In Situ , Linfonodos/patologia , Linfonodos/virologia , Linfoma/patologia , Malásia , Neoplasias Nasofaríngeas/patologia , Reação em Cadeia da Polimerase , Sensibilidade e Especificidade , Proteínas Virais
14.
Pathology ; 35(5): 428-35, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14555388

RESUMO

AIMS: CD30, CD40 and CD95 are members of the tumour necrosis factor receptor superfamily. Ligation to their respective ligands (CD30L, CD40L, CD95L) will generate a diverse set of signalling cascades. We aim to study the expression pattern of CD30, CD40 and CD95 in classical Hodgkin's lymphoma (cHL) and to correlate the expressions with proliferation and apoptosis in the Hodgkin/Reed-Sternberg (H/RS) cells of cHL with or without associated Epstein-Barr virus (EBV) infection. METHODS: A total of 66 cHL cases were retrieved from the archives. Expressions of CD30, CD40, CD95 and proliferation by Ki-67 expression were detected with an immunohistochemical staining method. Apoptosis index was assessed by in situ TUNEL staining technique on 30 randomly selected cases and the presence of EBV was determined by EBER in situ hybridisation. RESULTS: Expression of CD30, CD40 and CD95 in the H/RS cells was observed in a high proportion of the cases (100, 93.9, 90.5%, respectively). There was no significant association or correlation of the expression of these molecules with the presence of EBV. Expression of CD40 was associated with expression of the proliferation marker Ki-67 (P=0.044), whereas strong (intermediate and high) expression of CD30 showed a significant correlation with proliferation in the EBV-negative cases only (P=0.025). No correlation was observed for the expression of CD30 and CD40 with apoptosis of the H/RS cells. The childhood cases showed weaker CD95 expression in the H/RS cells than the adult cases, and the expression of CD95 was weaker than that of CD40 in the childhood group. CONCLUSIONS: Our results showed that CD30, CD40 and CD95 are highly expressed in the H/RS cells of the majority of cases of cHL. The expression patterns seem to be independent of EBV and do not correlate with apoptosis of the H/RS cells.


Assuntos
Apoptose/fisiologia , Antígenos CD40/metabolismo , Doença de Hodgkin/metabolismo , Antígeno Ki-1/metabolismo , Receptor fas/metabolismo , Adolescente , Adulto , Idoso , Biomarcadores Tumorais/metabolismo , Divisão Celular/fisiologia , Criança , Pré-Escolar , Herpesvirus Humano 4/genética , Herpesvirus Humano 4/isolamento & purificação , Doença de Hodgkin/patologia , Humanos , Técnicas Imunoenzimáticas , Hibridização In Situ , Marcação In Situ das Extremidades Cortadas , Antígeno Ki-67/metabolismo , Pessoa de Meia-Idade , Pseudolinfoma/metabolismo , Pseudolinfoma/patologia , Células de Reed-Sternberg/metabolismo , Células de Reed-Sternberg/patologia
15.
Pathology ; 35(5): 436-43, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14555389

RESUMO

AIMS: The most common recurrent genetic aberration in anaplastic large cell lymphoma (ALCL) is translocation involving the ALK gene that results in ectopic expression of ALK protein in lymphoid tissue. This study aims to investigate the frequency of ALK gene rearrangement in a series of Asian ALCL. METHODS: ALK gene rearrangement was detected by immunostaining of ALK protein and fluorescence in situ hybridisation (FISH) targeting at the 2p23 region. RESULTS: The expression of ALK protein was detected in 24/34 (71%) of the cases, and it was significantly higher in childhood cases (100%) when compared to adult cases (47%). The analyses by FISH were consistent with the results from immunostaining of ALK protein, but the analyses were only successful in 15/34 (44%) cases. FISH analyses detected extra copies of ALK gene in three cases, including one case that expressed ALK protein and showed 2p23 rearrangement. CONCLUSIONS: The current series revealed a high frequency of ALK gene rearrangement, especially in the children. Immunostaining of ALK protein is a reliable indication of ALK gene rearrangement, and is superior to FISH. However, FISH analysis is useful in detecting other genetic aberrations that are not related to ALK gene rearrangement.


Assuntos
Rearranjo Gênico , Hibridização in Situ Fluorescente , Antígeno Ki-1 , Linfoma Difuso de Grandes Células B/genética , Proteínas Tirosina Quinases/genética , Translocação Genética , Adolescente , Adulto , Idoso , Quinase do Linfoma Anaplásico , Criança , Pré-Escolar , Cromossomos Humanos Par 2 , Feminino , Humanos , Imuno-Histoquímica , Imunofenotipagem , Antígeno Ki-1/metabolismo , Linfoma Difuso de Grandes Células B/metabolismo , Linfoma Difuso de Grandes Células B/patologia , Masculino , Pessoa de Meia-Idade , Inclusão em Parafina , Proteínas Tirosina Quinases/metabolismo , Receptores Proteína Tirosina Quinases
16.
Artigo em Inglês | MEDLINE | ID: mdl-12041567

RESUMO

Molecular characterization and prenatal diagnosis for beta-thalassemia can be carried out using the Amplification Refractory Mutation System (ARMS). The ARMS is a rapid and direct molecular technique in which beta-thalassemia mutations are visualized immediately after DNA amplification by gel electrophoresis. In the University of Malaya Medical Center, molecular characterization and prenatal diagnosis for beta-thalassemia is carried out using ARMS for about 96% of the Chinese and 84.6% of the Malay patients. The remaining 4% and 15.4% of the uncharacterized mutations in the Chinese and Malay patients respectively are detected using DNA sequencing. DNA sequencing is an accurate technique but it is more time-consuming and expensive compared with the ARMS. The ARMS for the rare Chinese beta-mutations at position -29 (A-->G) and the ATG-->AGG base substitution at the initiator codon for translation in the beta-gene was developed. In the Malays, ARMS was optimized for the beta-mutations at codon 8/9 (+G), Cap (+1) (A-->C) and the AATAAA-->AATAGA base substitution in the polyadenylation region of the beta-gene. The ARMS protocols were developed by optimization of the parameters for DNA amplification to ensure sensitivity, specificity and reproducibility. ARMS primers (sequences and concentration), magnesium chloride concentration, Taq DNA polymerase and PCR cycling parameters were optimized for the specific amplification of each rare beta-thalassemia mutation. The newly-developed ARMS for the 5 rare beta-thalassemia mutations in the Chinese and Malays in Malaysia will allow for more rapid and cost-effective molecular characterization and prenatal diagnosis for beta-thalassemia in Malaysia.


Assuntos
Mutação , Reação em Cadeia da Polimerase/métodos , Talassemia beta/genética , Sequência de Bases , China/etnologia , Primers do DNA , Feminino , Humanos , Malásia , Masculino , Linhagem , Transcrição Gênica , Talassemia beta/diagnóstico
17.
Arch Dermatol ; 148(9): 1001-4, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22710406

RESUMO

OBJECTIVE: To determine if watching a children's program on a portable video player reduces anxiety levels in preschool children before cryotherapy for cutaneous viral warts. DESIGN: Nonblinded before-after trial. SETTING: General dermatology clinic. PARTICIPANTS: Consecutive patients aged 2 to 6 years who underwent cryotherapy for cutaneous viral warts. INTERVENTION: Patients were shown a children's program on a portable video player before cryotherapy. MAIN OUTCOME MEASURE: Mean score difference on the modified Yale Preoperative Anxiety Scale between children treated during the 10 weeks before vs the 10 weeks after the intervention was implemented. RESULTS: Ninety-nine cryotherapy sessions performed among 35 children were evaluated. Fifteen children underwent cryotherapy during the preintervention phase only, and 13 children underwent cryotherapy during the intervention phase only. The mean modified Yale Preoperative Anxiety Scale scores were 58.4 during the preintervention phase and 37.7 during the intervention phase (P = .005). The percentages of children with a high anxiety score (≥30) were 100% (15 of 15) during the preintervention phase and 38% (5 of 13) during the intervention phase (P < .001). Another 7 children underwent cryotherapy during both the preintervention and intervention phases. Their mean modified Yale Preoperative Anxiety Scale scores were 53.7 during the preintervention phase and 42.0 during the intervention phase (P = .03). The percentages of children with a high anxiety score were 86% (6 of 7) during the intervention phase and 43% (3 of 7) during the intervention phase (P = .25). In both groups, the time spent coaxing and treating children decreased after the intervention, but the differences were not statistically significant. CONCLUSION: The use of a portable video player significantly reduced preprocedural anxiety levels in preschool children undergoing cryotherapy for cutaneous viral warts.


Assuntos
Ansiedade/prevenção & controle , Crioterapia , Dermatopatias/terapia , Verrugas/terapia , Pré-Escolar , Feminino , Humanos , Masculino
18.
Spine (Phila Pa 1976) ; 31(2): 212-8, 2006 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-16418643

RESUMO

STUDY DESIGN: A retrospective, population-based analysis. OBJECTIVES: To analyze the utilization of a variety of healthcare services for persons with and without a chronic back disorder, and to identify factors associated with specific patterns of healthcare resource use. SUMMARY OF BACKGROUND DATA: Although there have been studies of how chronic back disorders influence the use of specific healthcare services, we do not currently have a broad, population-based overview of how this condition influences healthcare service utilization. METHODS: Person-level data were taken from the 2000-2001 Canadian Community Health Survey (CCHS), a nationwide cross-sectional survey of health determinants, health status, and health system utilization of Canadians. A series of binary logistic regressions examining healthcare resource utilization were performed on a full study sample (n = 113,229), as well as a restricted sample (n = 36,713) with attention focused on subjects with a single diagnosis of a chronic back disorder. RESULTS: Persons with chronic back disorders were more likely to use physician resources (multivariate odds ratio [OR] = 1.2; 95% confidence interval, 1.1-1.2), and nonphysician resources (OR range, 2.1-3.6) compared with persons without the condition, with chiropractic care having an odds ratio of 3.6 (95% confidence interval, 3.5-3.8). Higher socioeconomic status, the presence of activity-limiting pain, and depressive symptoms were associated with a significant increase in utilization of almost all healthcare services. CONCLUSIONS: With increasing disability as indicated by the presence of pain and functional limitations, and the presence of depressive symptoms, the higher the utilization of physician and nonphysician resources, with the exception of chiropractic care, which appears to be used by those with less severe symptoms. Lower socioeconomic status was associated with significantly lower receipt of services for almost all healthcare providers.


Assuntos
Dor nas Costas/epidemiologia , Inquéritos Epidemiológicos , Aceitação pelo Paciente de Cuidados de Saúde , Adulto , Idoso , Dor nas Costas/terapia , Canadá/epidemiologia , Doença Crônica , Estudos Transversais , Coleta de Dados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
19.
J Obstet Gynaecol Res ; 31(6): 540-6, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16343256

RESUMO

AIM: Interactions between different determinants of alpha-thalassemia raises considerable problems, particularly during pregnancies where antenatal diagnosis is necessary. This study aims to determine the different types of deletional alpha-thalassemia and Hemoglobin Constant Spring (HbCS), and their frequency in Malays, Chinese and Indians in Malaysia. METHODS: DNA from 650 pregnant women from the Antenatal Clinic of the University of Malaya Medical Center in Kuala Lumpur, Malaysia who showed mean cell volume < or =89 fL and/or mean cell hemoglobin < or =28 pg were analyzed for the double alpha-globin gene South-East Asian deletion (--SEA), the -alpha3.7 and -alpha4.2 single alpha-globin gene deletions and HbCS. RESULTS: One hundred and three (15.8%) of the pregnant women were confirmed as alpha-thalassemia carriers: 25 (3.8%) were alpha-thalassemia-1 carriers with the --SEA/alphaalpha genotype, 64 (9.8%) were heterozygous for the -alpha3.7 rightward deletion (-alpha3.7/alphaalpha), four (0.6%) were heterozygous for the -alpha4.2 leftward deletion (-alpha4.2/alphaalpha), nine (1.4%) were heterozygous for HbCS (alphaCSalpha/alphaalpha) and one (0.2%) was compound heterozygous with the -alpha3.7/alphaCSalpha genotype. The double alpha-globin gene --SEA deletion was significantly higher in the Chinese (15%) compared to the Malays (2.5%) and not detected in the Indians studied. The -alpha3.7 deletion was distributed equally in the three races. HbCS and -alpha4.2 was observed only in the Malays. CONCLUSION: The data obtained gives a better understanding of the interactions of the different alpha-thalassemia determinants in the different ethnic groups, thus enabling more rapid and specific confirmation of alpha-thalassemia in affected pregnancies where antenatal diagnosis is necessary.


Assuntos
Povo Asiático/genética , Complicações Hematológicas na Gravidez/genética , Talassemia alfa/complicações , Talassemia alfa/genética , Adolescente , Adulto , Sequência de Bases , DNA/genética , Feminino , Triagem de Portadores Genéticos , Globinas/genética , Humanos , Malásia , Gravidez , Complicações Hematológicas na Gravidez/diagnóstico , Talassemia alfa/diagnóstico , Talassemia alfa/prevenção & controle
20.
Pathol Int ; 54(3): 158-66, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-14989738

RESUMO

Natural killer (NK)/T-cell lymphomas are frequently associated with Epstein-Barr virus (EBV), and usually lack TCR gene rearrangement. Studies from Asia have reported frequent deletion in the LMP-1 gene in EBV-associated nasopharyngeal carcinoma (NPC). The present study aims to investigate LMP-1 and TCRgamma gene status in upper aerodigestive tract lymphomas. A total of 43 cases were classified into T-, B-, and NK/T-cell tumors based on the phenotype expressions of CD3(+)/CD20(-)/CD56(-), CD3(-)/CD20(+)/CD56(-), and CD3(+)/CD20(-)/CD56(+), respectively. The presence of EBV in the tumor was confirmed by EBV early RNA-in situ hybridization. LMP-1 gene deletion and TCR gamma gene rearrangement were analyzed by polymerase chain reaction on paraffin-embedded tissues. There were 20 NK/T-, eight T-, and 15 B-cell phenotype lymphomas in the present series, and EBV was detected in 19 (95%), two (25%), and three (20%) cases in the respective groups. All EBV+ cases carried 30-bp deletion in the LMP-1 gene, and two of the NK/T-cell cases were infected by both the wild type and deleted strains. Five (25%) of the NK/T-cell phenotype lymphomas showed rearranged TCR gamma gene. The present study revealed a high frequency of EBV association, and a high frequency of 30-bp deletion in the LMP-1 gene in the virus in the present series of lymphoma. The NK/T-phenotype lymphomas are comprised of both NK-cell and cytotoxic T-lymphocyte-derived tumors.


Assuntos
Infecções por Vírus Epstein-Barr/genética , Linfoma/genética , Linfoma/virologia , Neoplasias Nasofaríngeas/genética , Neoplasias Nasofaríngeas/virologia , Proteínas da Matriz Viral/genética , Adolescente , Adulto , Idoso , Sequência de Bases , Antígeno CD56/metabolismo , Criança , Pré-Escolar , Feminino , Deleção de Genes , Rearranjo Gênico da Cadeia gama dos Receptores de Antígenos dos Linfócitos T , Herpesvirus Humano 4 , Humanos , Imuno-Histoquímica , Imunofenotipagem , Hibridização In Situ , Células Matadoras Naturais/patologia , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Homologia de Sequência , Linfócitos T Citotóxicos/patologia
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