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1.
East. Mediterr. health j ; 22(8): 611-618, 2016-08.
Artigo em Inglês | WHO IRIS | ID: who-260118

RESUMO

This study aimed to estimate the frequency of the SNPs [+45T>G and +276G>T] genotypes and investigate the association between the two SNPs and adiponectin concentration, metabolic parameters and risk of T2DM in the Bahraini population. We genotyped the two ADIPOQ SNPs in 140 unrelated T2DM patients and 66 nondiabetic controls using the polymerase chain reaction-restriction fragment length polymorphism assay. Lipid profile was measured by enzymatic methods. Total serum adiponectin levels were measured by immunoassay. T2DM patients had reduced adiponectin levels compared with controls. +45T>G was more prevalent in patients than controls. The rare G allele of +45T>G occurred more frequently than the common T allele in T2DM patients compared with controls, and was associated with lower serum adiponectin levels. There was no significant difference in allele and genotype frequencies of +276G>T between type T2DM patients and controls. There was no association between both SNPs and metabolic parameters


La présente étude avait pour objectif de mesurer la fréquence des polymorphismes mononucléotidiques [+45T>G et +276G>T] des génotypes et d'évaluer l'association entre ces deux polymorphismes et la concentration d'adiponectine, les paramètres métaboliques et le risque de diabète non insulino-dépendant [DNID] dans la population bahreinienne. Nous avons génotypé les deux polymorphismes mononucléotidiques du gène ADIPOQ chez 140 patients atteints de DNID sans lien de parenté et 66 témoins non diabétiques en recourant à l'analyse du polymorphisme de longueur des fragments de restriction par réaction en chaîne de polymérase. Le profil lipidique a été mesuré au moyen de méthodes enzymatiques. Les concentrations d'adiponectine totale sérique ont été mesurées par immunodosage. Les patients atteints de DNDI affichaient des concentrations d'adiponectine réduites par rapport aux témoins. Le polymorphisme +45T>G avait une prévalence plus élevée chez les patients que chez les témoins. L'allèle rare G du polymorphisme +45T>G apparaissait plus fréquemment que l'allèle commun T chez les patients atteints de DNID que chez les témoins, et était associé à des concentrations d'adiponectine sérique plus faibles. Il n'existait pas de différence significative entre les fréquences des allèles et des génotypes du polymorphisme +276G>T entre les patients atteints de DNID et les témoins. Aucune association entre les deux polymorphismes et les paramètres métaboliques n'a été notée


Assuntos
Doenças não Transmissíveis , Diabetes Mellitus Tipo 2 , Polimorfismo de Nucleotídeo Único , Adiponectina , Reação em Cadeia da Polimerase , Alelos , Genótipo , Risco , Inquéritos e Questionários , Barein
2.
Artigo em Inglês | WHO IRIS | ID: who-250681

RESUMO

أشارت الدراسات إلى احتمال وجود ارتباط بين مسببات سرطان الثدي وبين العدوى بفيروس الورم الحليمي البشري. وقد استخدم الباحثون في هذه الدراسة التهجن في الموضع لكشف التكرار والنمط الجيني لفيروس الورم الحليمي البشري في عينات نسيجية أخذت من 129 مريضة شخص لديها سرطان خبيث في الثدي، إلى جانب 24 مريضة شخص لديها ورم سليم في الثدي و 20 سيدة كشواهد يتمتعن بالصحة. وكشف الباحثون لدى فريق المصابات بسرطان الثدي أنماطا مزيجة من فيروس الورم الحليمي البشري في 60 قطعة نسيجية محفوظة [46.5 %]. ومن بين هذه القطع النسيجية كشف الباحثون النمط الجيني 16 في [55.5 %]، والنمط الجيني 18 في [58.4 %]، والنمط الجيني 31 في [65.0 %]، والنمط الجيني 33 في [26.6 %]من الحالات. كما وجد بين حالات السرطان أنماط جينية مزيجة لفيروس الورم الحليمي البشري 16+18 في 5% من الحالات، و16+18+31 في 25.0% من الحالات، و16+18+33 في 8.3% من الحالات، و18+33 في 6.7% من الحالات و16+31 في 10% من الحالات و18+31 في 13.3% من الحالات المصابة بالسرطان ولم تكن سوى 3 عينات من نسيج الثدي المصابة بورم سليم إيجابية لدنا فيروس الورم الحليمي البشري [12.5 %]، ولم يكن هناك أي عينة من نسج الثدي السليمة إيجابية له.إن كشف الأنماط الجينية لفيروس الورم الحليمي البشري ذات التوليد العالي للورم لدى مريضات بسرطان الثدي يدعم نظرية أداء الفيروس لدور سببي في إحداث سرطان الثدي


ABSTRACT Studies have suggested a possible link between breast cancer pathogenesis and human papillomavirus (HPV) infection. This study in Iraq used in situ hybridization to detect the frequency and genotyping of HPV in tissue specimens from 129 patients diagnosed with malignant breast cancer, 24 with benign breast tumours and 20 healthy controls. In the breast cancer group, cocktail HPV genotypes were detected in 60 (46.5%) archived tissue blocks. Of these, genotypes 16 (55.5%), 18 (58.4%), 31 (65.0%) and 33 (26.6%) were detected. Mixed HPV genotypes 16 + 18, 16 + 18 + 31, 16 + 18 + 33, 18 + 33, 16 + 31 and 18 + 31 were found in 5.0%, 25.0%, 8.3%, 7.7%, 10.0% and 13.3% of cancer cases respectively. Only 3 benign breast tumour tissues (12.5%) and none of the healthy breast tissue specimens were HPV-DNA-positive. The detection of high-oncogenic HPV genotypes in patients with breast cancer supports the hypothesis of an etiologic role for the virus in breast cancer development.


RÉSUMÉ Des études ont suggéré qu'un lien était possible entre la pathogénèse du cancer du sein et l'infection à papillomavirus humain. L'étude menée en Iraq a utilisé la méthode d'hybridation in situ pour déterminer la fréquence du papillomavirus humain et pour son génotypage dans les échantillons de tissus prélevés auprès de 129 patientes ayant reçu un diagnostic de cancer du sein malin, de 24 patientes porteuses d'une tumeur du sein bénigne et de 20 femmes témoins en bonne santé. Dans le groupe des patientes atteintes d'un cancer du sein, différents génotypes de papillomavirus humain ont été détectés dans 60 échantillons de tissus conservés (46,5 %). Parmi ceux-ci, on peut citer les génotypes 16 (55,5 %), 18 (58,4 %), 31 (65,0 %) et 33 (26,6 %). Les associations de génotypes de papillomavirus humain 16 + 18,16 + 18 + 31, 16 + 18 + 33, 18 + 31, 16 + 31 et 18 + 33 ont été observées chez 5,0 %, 25,0 %, 8,3 %, 6,7 %, 10,0 % et 13,3% des cas de cancer respectivement. Seuls trois échantillons de tissu mammaire tumoral bénin (12,5 %) étaient positifs pour l'ADN de papillomavirus humain tandis qu’aucun échantillon de tissu mammaire sain ne l’était. La détection de génotypes du papillomavirus humain hautement oncogènes chez les patientes atteintes de cancer du sein vient appuyer l'hypothèse du rôle étiologique du virus dans l'apparition d'un cancer du sein.


Assuntos
Infecções por Papillomavirus , Neoplasias da Mama , Técnicas de Genotipagem , Genótipo , Hibridização In Situ , Estudos Retrospectivos , Papillomavirus Humano 16 , Papillomavirus Humano 18 , Papillomavirus Humano 31 , Iraque
4.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-118555
5.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-118422

RESUMO

Genotyping Mycobacterium tuberculosis in Lebanon on the national level may be beneficial for assessing patients and monitoring the therapeutic response to DOTS. This study aimed to characterize the spoligotypes of clinical isolates of M tuberculosis patients collected between April 2004 and October 2005 from all Lebanese provinces. Isolates [n = 60] were cultured and identified by their biochemical characteristics. DNA extracts of these samples were amplified by PCR and genotyped by spoligotyping. Thirteen [13] patterns of M tuberculosis complex family strains were identified: 41.6% of the strains belonged to the T 1 family, 25.0% to LAM 9,10.0% to Haarlem 3, 3.3% to each of CAS, LAM 8, BCG and Family 36 and17% to each of Haarlem 1, LAM 10, S, M. africanum, X 1 and T 3 families. The noticeable absence of Beijing and East African Indian families was not,consistent with the patterns reported in neighbouring countries. A more inclusive study of the Lebanese population Is necessary to accurately identify most of the prevailing families in the country


Assuntos
DNA , Estudos Retrospectivos , Reação em Cadeia da Polimerase , Genótipo , Mycobacterium tuberculosis
6.
Artigo em Inglês | WHO IRIS | ID: who-329860

RESUMO

Background: Rotavirus as a causative agent of childhood diarrhea is known to cause seriousillness among children less than 5 years of age. This study examined the epidemiology of rotavirusdisease burden and diversity of G and P genotypes of rotavirus in Nepal.Methods: Stool samples were tested for rotavirus by Enzyme Immuno Assay and Group A rotaviruseswere detected by using both ELISA and RT-PCR in 2718 samples between 2009 and 2011.Results: Rotavirus was more frequently detected among inpatients (28.5%) than outpatients(15.2%). Over the three-year study period, 653 (24.4%) cases were positive for rotavirus byELISA. Genotyping by RT-PCR was done on 638 samples. The most prevalent genotype was G12P[6] (60.4%). Mixed infections were not uncommon (14% in 2009, 29% in 2010 an 7% in 2011).However, 41 were partially typed and 23 were completely untyped over the study period.Conclusions: This study highlights the rotavirus disease burden and diversity of rotavirus strainscirculating in Nepal. Continued sentinel surveillance will provide useful information to policy makerswith regard to rotavirus vaccine introduction.


Assuntos
Prevalência , Genótipo , Reação em Cadeia da Polimerase Via Transcriptase Reversa
7.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-118479

RESUMO

Thalassaemia is the most frequent hereditary disorder in Pakistan, with an estimated 8-10 million carriers. This single-centre study reported the frequency of haemoglobinopathies among 504 consecutive cases visiting Islamabad Diagnostic Centre for haemoglobin electrophoresis from July 2010 to February 2011. Haemoglobin electrophoresis was performed on cellulose acetate membrane, followed by staining and densitometric scanning of bands. A total of 143 [28.4%] subjects had haemoglobinopathies. The most predominant was thalassaemia trait [25.6%], followed by thalassaemia major [1.4%] and HbS or HbD [1.4%]. The gene frequencies for thalassaemia trait and major were 0.256 and 0.0139 respectively. The study provides support for continuing efforts towards early detection and characterization of haemoglobinopathies to control the affected births in Pakistan


Assuntos
Talassemia beta , Hemoglobina Falciforme , Estudos Transversais , Eletroforese , Genótipo , Hemoglobinopatias
8.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-118301

RESUMO

The incidence of hepatitis C virus [HCV] infection among patients undergoing haemodialysis is high. The aim of this study was to identify the HCV genotypes among chronic haemodialysis patients who were HCV positive in Guilan province, northern Islamic Republic of Iran. All patients on haemodialysis at Guilan haemodialysis centres were enrolled. Enzyme-linked immunosorbent assay and polymerase chain reaction testing were performed. Out of 514 enrolled patients, 11.9% were serologically HCV positive and 6.2% had positive HCV-RNA. HCV genotypes were determined with HCV genotype-specific primers. The most frequent genotypes were la [59.4%] and 3a [40.6%]. There was no significant relationship between virus genotypes and sex or age. The HCV genotype pattern among haemodialysis patients in Guilan province was different from other countries of the Middle East and was more similar to North American and European countries where genotype 1 is predominant


Assuntos
Genótipo , Diálise Renal , Incidência , Prevalência , Estudos Transversais , Hepatite C
9.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-118656

RESUMO

A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. The iron status in these subjects was studied and correlated with the HFE gene mutations. H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in [3-thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. Compound heterozygosis was found in 10 carriers [24.4%]. The transferrin saturation level was high in compound heterozygote cases. Our study has shown that the HFE gene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls


Assuntos
Mutação , Talassemia beta , Estudos de Casos e Controles , Heterozigoto , Genótipo , Reação em Cadeia da Polimerase , Sobrecarga de Ferro
10.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-118282

RESUMO

Few studies have been conducted in the Eastern Mediterranean region on chronic hepatitis C virus [HCV] infection with reference to genotypes. We investigated the response to standard combination therapy [pegylated interferon/ribavirin] of different genotypes of HCV in Kuwaiti patients and factors that could be associated with sustained virological response [SVR]. The records of all Kuwaiti patients treated for chronic HCV between January 2003 and May 2009 were retrospectively identified and reviewed. Of 108 patients studied, 27.8% were infected with genotype 1, 25.0% with genotype 3 and 47.2% with genotype 4. Overall, 64.8% of patients achieved SVR, 25.9%, were non-responders and 9.3% were relapsers. Baseline viral load and alanine aminotransferase level in addition to early virological response to pegylated interferon-based therapy may serve as a decision tool for clinicians to identify patients who are unlikely to achieve SVR


Assuntos
Interferon-alfa , Polietilenoglicóis , Ribavirina , Estudos Retrospectivos , Resultado do Tratamento , Genótipo , Carga Viral , Hepatite C Crônica
12.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-118039

RESUMO

Hepatitis C virus [HCV] infection is a major public health problem in the Middle East. A database of 400 patients with chronic HCV in Qatar was retrospectively analysed: 242 patients underwent antiviral treatment, of whom 212 [87.6%] were naive to treatment. The response to treatment and the predictors of response were studied. The largest group of patients were of Egyptian origin. The rate of sustained virological response [SVR] varied significantly between patients with HCV genotypes 2 or 3 [79.6%] and genotype 1 [45.6%] and 4 [the predominant genotype] [51.0%]. Multivariate analysis showed that the independent predictors of SVR were age < 45 years, infection with genotypes 2 or 3, low fibrosis score on liver biopsy and naive treatment status


Assuntos
Hepatite C Crônica , Estudos Retrospectivos , Auditoria Médica , Genótipo , Resultado do Tratamento
13.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-117945

RESUMO

The role of previous treatment in the dynamics of tuberculosis transmission has not been adequately investigated. Mycobacterium tuberculosis isolates from previously treated patients [n = 88] from all regions of Syrian Arab Republic were characterized in terms of antibiotic sensitivity and genotyping using double-repetitive-element polymerase chain reaction [DRE-PCR] method for the proximity of the repetitive DNA elements IS6110 [a mobile genetic element] and PGRS. The 88 isolates resulted in 59 different DRE-PCR patterns. Correlations related to age, sex, region, sensitivity and genotype were examined. All regions of the country showed high levels of genotype diversity, suggesting a low level of transmission of M. tuberculosis strains in previously treated patients


Assuntos
Reação em Cadeia da Polimerase , Mycobacterium tuberculosis , Genótipo , Testes de Sensibilidade Microbiana , Tuberculose Resistente a Múltiplos Medicamentos
14.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-117944

RESUMO

Molecular studies have been successfully applied in evaluating epidemiological linkages in tuberculosis. A total of 87 isolates of Mycobacterium tuberculosis were collected from patients in all regions of Lebanon and characterized in terms of drug sensitivity. Double-repetitive-element polymerase chain reaction was used to differentiate between strains. Various correlations related to age, sex, region, sensitivity and genotype were examined. Several genotypes were more common in certain age ranges. Male patients appeared more likely either to be infected by or to develop multi-drug resistant strains. There was also evidence for a distribution of genotype groups indicating some level of geographical isolation and hence separate evolution of M. tuberculosis strains


Assuntos
Reação em Cadeia da Polimerase , Mycobacterium tuberculosis , Tuberculose Resistente a Múltiplos Medicamentos , Genótipo , Testes de Sensibilidade Microbiana
15.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-117081

RESUMO

To estimate the seroprevalence of HCV infection among HIV-infected haemophiliacs and to demonstrate the most prevalent HCV genotype, 47 HIV-infected haemophilia patients were screened for anti-HCV antibodies. By performing polymerase chain reaction and DNA enzyme immunoassay, HCV-RNA was detected with subsequent genotyping. Seroprevalence of anti-HCV antibodies was 66.0%. Of 31 HCV/HIV co-infected patients, 21 [67.7%] had no history of blood transfusion. We detected 4 HCV genotypes: 1a, 1b, 4 and 4 mixed with 3a, HCV-1b being the most frequent. Contaminated factor VIII [clotting factor] could be responsible for disease acquisition


Assuntos
Hemofilia A , Genótipo , Reação em Cadeia da Polimerase , Sorotipagem , Hepatite C
16.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-117071

RESUMO

We used computer simulation to determine variation in gene, heterozygous and homozygous frequencies induced by 4 different approaches to thalassaemia. These were: supportive therapy only; treat homozygous patients with a hypothetical modality phenotypically only; abort all homozygous fetuses; and prevent marriage between gene carriers. Gene frequency becomes constant with the second or the fourth strategy, and falls over time with the first or the third strategy. Heterozygous frequency varies in parallel with gene frequency. Using the first strategy, homozygous frequency falls over time; with the second strategy it becomes constant; and with the third and fourth strategies it falls to zero after the first generation. No matter which strategy is used, the population gene frequency, in the worst case, will remain constant over time


Assuntos
Homozigoto , Frequência do Gene , Fenótipo , Triagem de Portadores Genéticos , Genótipo , Genética Populacional , Talassemia
18.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-119413

RESUMO

A prospective clinical trial was carried out to determine in vivo efficacy of sulfadoxine/pyrimethamine for the treatment of uncomplicated Plasmodium falciparum malaria in children in New Halfa. Forty patients were enrolled; 31 completed the 28-day follow-up. Six [19.4%] patients showed recurrence of parasitaemia during follow-up, while the rest [80.6%] cleared the parasites and responded fully to treatment. All the failures were late treatment failures. Parasite genotyping showed that 1 [16.7%] of the 6 cases of late parasitaemia was due to reinfection while the rest [83.4%] were due to true recrudescence. During the follow-up period 22.6% of patients showed gametocytaemia. The high level of treatment failure as well as gametocytaemia necessitates the introduction of artesunate in this combination therapy


Assuntos
Adolescente , Animais , Artemisininas , Combinação de Medicamentos , Doenças Endêmicas , Genótipo , Malária Falciparum , Contagem de Ovos de Parasitas , Antimaláricos
19.
(East. Mediterr. health j).
em Inglês | WHO IRIS | ID: who-119404

RESUMO

This study investigated two patients with Rh chimerism: patient A, a healthy individual, and patient B with myelofibrosis. Flow cytometry studies showed two red blood cell populations of Rh phenotypes R1r and rr at percentages of about 25% and 75% respectively. Normal RhD transcript sequences were found following RT-PCR. Genomic DNA [gDNA] showed normal exon, intron, GATA regions and exon/intron boundary sequences except for a single base change in intron 7 [C --> A] of exon 7 in patient A. The major change found in both patients was the absence of RHD exon 9 DNA in gDNA isolated from peripheral blood. These findings suggest a somatic mutation, probably in a stem cell common to the myeloid lineage of both patients, and indicate that patient A may undergo malignant transformation in the future


Assuntos
Sequência de Bases , Éxons , Citometria de Fluxo , Perfilação da Expressão Gênica , Genoma Humano , Genótipo , Elementos Isolantes , Quimerismo
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