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1.
Braz. j. biol ; 83: e242818, 2023. tab, graf
Artigo em Inglês | LILACS-Express | MEDLINE, LILACSEXPRESS | ID: biblio-1285628

RESUMO

Abstract The study was aimed to assess impact of high fat diet (HFD) and synthetic human gut microbiota (GM) combined with HFD and chow diet (CD) in inducing type-2 diabetes (T2D) using mice model. To our knowledge, this is the first study using selected human GM transplantation via culture based method coupled dietary modulation in mice for in vivo establishment of inflammation leading to T2D and gut dysbiosis. Twenty bacteria (T2D1-T2D20) from stool samples of confirmed T2D subjects were found to be morphologically different and subjected to purification on different media both aerobically and anerobically, which revealed seven bacteria more common among 20 isolates on the basis of biochemical characterization. On the basis of 16S rRNA gene sequencing, these seven isolates were identified as Bacteroides stercoris (MT152636), Lactobacillus acidophilus (MT152637), Lactobacillus salivarius (MT152638), Ruminococcus bromii (MT152639), Klebsiella aerogenes (MT152640), Bacteroides fragilis (MT152909), Clostridium botulinum (MT152910). The seven isolates were subsequently used as synthetic gut microbiome (GM) for their role in inducing T2D in mice. Inbred strains of albino mice were divided into four groups and were fed with CD, HFD, GM+HFD and GM+CD. Mice receiving HFD and GM+modified diet (CD/HFD) showed highly significant (P<0.05) increase in weight and blood glucose concentration as well as elevated level of inflammatory cytokines (TNF-α, IL-6, and MCP-1) compared to mice receiving CD only. The 16S rRNA gene sequencing of 11 fecal bacteria obtained from three randomly selected animals from each group revealed gut dysbiosis in animals receiving GM. Bacterial strains including Bacteroides gallinarum (MT152630), Ruminococcus bromii (MT152631), Lactobacillus acidophilus (MT152632), Parabacteroides gordonii (MT152633), Prevotella copri (MT152634) and Lactobacillus gasseri (MT152635) were isolated from mice treated with GM+modified diet (HFD/CD) compared to strains Akkermansia muciniphila (MT152625), Bacteriodes sp. (MT152626), Bacteroides faecis (MT152627), Bacteroides vulgatus (MT152628), Lactobacillus plantarum (MT152629) which were isolated from mice receiving CD/HFD. In conclusion, these findings suggest that constitution of GM and diet plays significant role in inflammation leading to onset or/and possibly progression of T2D. .


Resumo O estudo teve como objetivo avaliar o impacto da dieta rica em gordura (HFD) e da microbiota intestinal humana sintética (GM) combinada com HFD e dieta alimentar (CD) na indução de diabetes tipo 2 (T2D) usando modelo de camundongos. Para nosso conhecimento, este é o primeiro estudo usando transplante de GM humano selecionado através do método baseado em cultura acoplada à modulação dietética em camundongos para o estabelecimento in vivo de inflamação que leva a T2D e disbiose intestinal. Vinte bactérias (T2D1-T2D20) de amostras de fezes de indivíduos T2D confirmados verificaram ser morfologicamente diferentes e foram submetidas à purificação em meios diferentes aerobicamente e anaerobicamente, o que revelou sete bactérias mais comuns entre 20 isolados com base na caracterização bioquímica. Com base no sequenciamento do gene 16S rRNA, esses sete isolados foram identificados como Bacteroides stercoris (MT152636), Lactobacillus acidophilus (MT152637), Lactobacillus salivarius (MT152638), Ruminococcus bromii (MT152639), Klebsiella aerogenides (MT152640), Bacteroides fragilis (MT152909), Clostridium botulinum (MT152910). Esses sete isolados foram, posteriormente, usados ​​como microbioma intestinal sintético (GM) por seu papel na indução de T2D em camundongos. Linhagens consanguíneas de camundongos albinos foram divididas em quatro grupos e foram alimentadas com CD, HFD, GM + HFD e GM + CD. Camundongos que receberam a dieta modificada com HFD e GM + (CD / HFD) mostraram um aumento altamente significativo (P < 0,05) no peso e na concentração de glicose no sangue, bem como um nível elevado de citocinas inflamatórias (TNF-α, IL-6 e MCP-1) em comparação com os ratos que receberam apenas CD. O sequenciamento do gene 16S rRNA de 11 bactérias fecais obtidas de três animais selecionados aleatoriamente de cada grupo revelou disbiose intestinal em animais que receberam GM. Cepas bacterianas, incluindo Bacteroides gallinarum (MT152630), Ruminococcus bromii (MT152631), Lactobacillus acidophilus (MT152632), Parabacteroides gordonii (MT152633), Prevotella copri (MT152634) e Lactobacillus Gasseri (MT152635D), foram tratadas com dieta modificada / CD) em comparação com as linhagens Akkermansia muciniphila (MT152625), Bacteriodes sp. (MT152626), Bacteroides faecis (MT152627), Bacteroides vulgatus (MT152628), Lactobacillus plantarum (MT152629), que foram isoladas de camundongos recebendo CD / HFD. Em conclusão, esses resultados sugerem que a constituição de GM e dieta desempenham papel significativo na inflamação levando ao início ou/e possivelmente à progressão de T2D.

2.
Braz J Biol ; 83: e242818, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34378656

RESUMO

The study was aimed to assess impact of high fat diet (HFD) and synthetic human gut microbiota (GM) combined with HFD and chow diet (CD) in inducing type-2 diabetes (T2D) using mice model. To our knowledge, this is the first study using selected human GM transplantation via culture based method coupled dietary modulation in mice for in vivo establishment of inflammation leading to T2D and gut dysbiosis. Twenty bacteria (T2D1-T2D20) from stool samples of confirmed T2D subjects were found to be morphologically different and subjected to purification on different media both aerobically and anerobically, which revealed seven bacteria more common among 20 isolates on the basis of biochemical characterization. On the basis of 16S rRNA gene sequencing, these seven isolates were identified as Bacteroides stercoris (MT152636), Lactobacillus acidophilus (MT152637), Lactobacillus salivarius (MT152638), Ruminococcus bromii (MT152639), Klebsiella aerogenes (MT152640), Bacteroides fragilis (MT152909), Clostridium botulinum (MT152910). The seven isolates were subsequently used as synthetic gut microbiome (GM) for their role in inducing T2D in mice. Inbred strains of albino mice were divided into four groups and were fed with CD, HFD, GM+HFD and GM+CD. Mice receiving HFD and GM+modified diet (CD/HFD) showed highly significant (P<0.05) increase in weight and blood glucose concentration as well as elevated level of inflammatory cytokines (TNF-α, IL-6, and MCP-1) compared to mice receiving CD only. The 16S rRNA gene sequencing of 11 fecal bacteria obtained from three randomly selected animals from each group revealed gut dysbiosis in animals receiving GM. Bacterial strains including Bacteroides gallinarum (MT152630), Ruminococcus bromii (MT152631), Lactobacillus acidophilus (MT152632), Parabacteroides gordonii (MT152633), Prevotella copri (MT152634) and Lactobacillus gasseri (MT152635) were isolated from mice treated with GM+modified diet (HFD/CD) compared to strains Akkermansia muciniphila (MT152625), Bacteriodes sp. (MT152626), Bacteroides faecis (MT152627), Bacteroides vulgatus (MT152628), Lactobacillus plantarum (MT152629) which were isolated from mice receiving CD/HFD. In conclusion, these findings suggest that constitution of GM and diet plays significant role in inflammation leading to onset or/and possibly progression of T2D. .


Assuntos
Diabetes Mellitus Tipo 2 , Microbioma Gastrointestinal , Animais , Bacteroides , Bacteroidetes , Dieta Hiperlipídica/efeitos adversos , Disbiose , Humanos , Inflamação , Camundongos , Camundongos Endogâmicos C57BL , Prevotella , RNA Ribossômico 16S/genética , Ruminococcus
4.
Artigo em Inglês | MEDLINE | ID: mdl-31143465

RESUMO

Background: There is a scarcity of specialist trainers and supervisors for psychosocial interventions in low- and middle-income countries. A cascaded model of training and supervision was developed to sustain delivery of an evidence-based peer-delivered intervention for perinatal depression (the Thinking Healthy Programme) in rural Pakistan. The study aimed to evaluate the model. Methods: Mixed methods were employed as part of a randomised controlled trial of the intervention. Quantitative data consisted of the peers' competencies assessed during field training and over the implementation phase of the intervention, using a specially developed checklist. Qualitative data were collected from peers and their trainers through 11 focus groups during the second and third year of intervention rollout. Results: Following training, 43 peers out of 45 (95%) achieved at least a 'satisfactory' level of competency (scores of ⩾70% on the Quality and Competency Checklist). Of the cohort of 45 peers initially recruited 34 (75%) were retained over 3 years and showed sustained or improved competencies over time. Qualitatively, the key factors contributing to peers' competency were use of interactive training and supervision techniques, the trainer-peer relationship, and their cultural similarity. The partnership with community health workers and use of primary health care facilities for training and supervision gave credibility to the peers in the community. Conclusion: The study demonstrates that lay-workers such as peers can be trained and supervised to deliver a psychological intervention using a cascaded model, thus addressing the barrier of scarcity of specialist trainers and supervisors.

5.
Eur Rev Med Pharmacol Sci ; 23(7): 3121-3128, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31002166

RESUMO

OBJECTIVE: The aim of this paper is to review the current literature on electromagnetic radiation (EMR): physical, biophysical, and telecommunication. The widespread application of EMR in modern technologies requires telecommunication and healthcare professionals to possess some knowledge of its physical and biological properties. In this review article, we will discuss biophysical principles of EMR, its interactions with living organisms and its application in clinical practices. We will discuss here beneficial as well as hazardous effects of EMR. We will also discuss the safety guidelines.


Assuntos
Diagnóstico por Imagem/efeitos adversos , Campos Eletromagnéticos/efeitos adversos , Radiação Eletromagnética , Animais , Diagnóstico por Imagem/tendências , Humanos , Smartphone/tendências , Telecomunicações/tendências
6.
Tunis Med ; 97(8-9): 984-989, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32173846

RESUMO

INTRODUCTION: Several studies have suggested a benefic impact of vitamin D supplementation on glycemic control and insulin resistance among patients with type 2 diabetes mellitus. The aims of our study were to assess vitamin D status in individuals with type 2 diabetes mellitus and to investigate the effects of vitamin D supplementation on glycemic measures in patients having vitamin D deficiency. METHODS: We conducted a comparative prospective study involved 100 Tunisian patients with type 2 diabetes followed at the National Institute of Nutrition and Food Technology of Tunis. Glycemic control and insulin resistance were evaluated in the beginning of the study and three months after supplementation. RESULTS: Baseline mean 25-Hydroxy vitamin D  (25(OH)D) level was 17.5±9.8 ng/ml. Vitamin D status was deficient in 60%, insufficient in 26% and sufficient in 14% patients. After vitamin D supplementation, mean serum 25(OH)D concentration increased significantly (p˂10-3). We observed a negative correlation between the variation of plasma 25(OH)D level and the waist circumference's variation (r=-0.266 and p=0.018). This correlation persisted after adjustment for therapeutic management. Vitamin D supplementation did significantly improve neither glycemic control nor insulin resistance parameters. CONCLUSION: Vitamin D deficiency is frequent in patients with type 2 diabetes mellitus. The metabolic effects of supplementation are controversial, hence the need of expanding studies to better demonstrate these effects.


Assuntos
Glicemia/efeitos dos fármacos , Diabetes Mellitus Tipo 2/dietoterapia , Deficiência de Vitamina D/dietoterapia , Vitamina D/administração & dosagem , Adulto , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/complicações , Suplementos Nutricionais , Feminino , Seguimentos , Hemoglobina A Glicada/efeitos dos fármacos , Hemoglobina A Glicada/metabolismo , Humanos , Resistência à Insulina/fisiologia , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Vitamina D/análogos & derivados , Vitamina D/sangue , Vitamina D/farmacologia , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/complicações
7.
Br Dent J ; 225(9): 793, 2018 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-30412535
8.
Int J Lab Hematol ; 38(3): 223-32, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26993054

RESUMO

UNLABELLED: Hemoglobinopathies are the most common genetic disease in Tunisia with a total carrier prevalence of 4.48%. OBJECTIVE: The aim of this study was to report an 18-year fully achieved experience of prenatal diagnosis (PND) of hemoglobinopathies (1994-2012) and to assess the impact of this prevention program. PATIENT AND METHODS: A total of 461 fetuses of 340 at-risk couples have been the subject of PND for beta-thalassemia major risk (41%), for sickle cell anemia risk (40.3%), for S/beta-thal risk (14.7%). The remainder fetuses were at risk for a compound heterozygote hemoglobinopathies (S/O, O/beta-thal, S/C….). Fetal DNA was studied by PCR procedure including the reverse dot-blot technique and the amplification refractory mutation system and direct sequencing. RESULTS AND DISCUSSION: Only 13.8% of the fetal samplings were conducted by chorionic villus sampling. The molecular result for beta-thalassemia risk has shown 13 beta-thal mutations, with two common: codon 39 (C>T) and IVS1-110 (G>A). The last 3 years, STR study has permitted to reduce the problems of maternal cell contamination. Among the 461 tested fetuses, 121 were affected, and then the pregnancy was terminated except for 13 cases, because of religious considerations and this despite the abortion legality in Tunisia. The conducted PND is only about 30 PND per year corresponding essentially to the couples living in Tunis City and surrounding area. PND number has increased from 1994 to 2009. This evolution has brutally decreased after the Tunisian revolution (2010). CONCLUSION: Although the good running of the PND, it covers only the Tunis city with low impact because it prevent apparition of only a mean of 7.3% of new cases. The reduced number of PND is not a technical inconvenience but rather a lack of a preventive program.


Assuntos
Anemia Falciforme/diagnóstico , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal/métodos , Talassemia beta/diagnóstico , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Feminino , Doenças Fetais/epidemiologia , Doenças Fetais/genética , Humanos , Masculino , Reação em Cadeia da Polimerase , Gravidez , Diagnóstico Pré-Natal/instrumentação , Estudos Retrospectivos , Tunísia , Talassemia beta/epidemiologia , Talassemia beta/genética
9.
Pathol Biol (Paris) ; 63(3): 126-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26002249

RESUMO

PURPOSE: We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. PATIENTS AND METHODS: Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. RESULTS: Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. CONCLUSION: Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis.


Assuntos
Amniocentese , Amostra da Vilosidade Coriônica , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Aborto Eugênico , Alelos , Árabes/genética , Amostra da Vilosidade Coriônica/efeitos adversos , Cromatografia Líquida de Alta Pressão , Fibrose Cística/embriologia , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/análise , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/genética , Eletroforese em Gel de Poliacrilamida , Feminino , Morte Fetal/etiologia , Aconselhamento Genético , Genótipo , Humanos , Masculino , Repetições de Microssatélites , Gravidez , Gravidez de Gêmeos , Estudos Retrospectivos , Tunísia/epidemiologia
10.
J Sports Med Phys Fitness ; 55(5): 544-8, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-24947919

RESUMO

Hemoglobin (Hb) Hope is a beta-globin chain variant with reduced oxygen (O2) affinity, known to induce anemia. This usually leads to limitations in O2uptake (VO2) and exercise tolerance. We studied the case of a high-level female athlete with Hb Hope. She had been selected for cross-country races from 13 yrs onward, then was a national junior champion in 400-m race, and finally failed to win any cross-country races as an adult. Hematological analysis revealed normal red blood cell indices and Hb level (12.3 g.dL⁻¹). Incremental exercise showed peak work rate (WR), VO(2max) and gas exchange threshold (GET) within normal ranges for healthy females. Constant WR testing at 90% of GET showed that kinetics of pulmonary VO2included the presence of a slow component. This was in disagreement with the data on VO2kinetics response to exercise intensities below GET. Phase 2 parameters, time constant (τ2, 31 s), time delay (TD2, 39 s), amplitude (A2, 780 ml.min⁻¹), and gain in VO2(ΔVO2 .ΔWR-1, 9.2 ml.min-1.W⁻¹) were within normal ranges. Phase 3 showed a slow component similar to that reported in severe exercise. The absence of anemia and the normality of phase 2 suggested normal O2delivery and oxidative metabolism in exercising muscles. In contrast, phase 3 suggested poor aerobic capacity and limited exercise tolerance. However, the lack of symptoms during testing also suggested that the slow component was due to the specific recruitment of fast-twitch fibers in this former champion athlete with Hb Hope in races requiring mainly anaerobic metabolism.


Assuntos
Atletas , Hemoglobinopatias/sangue , Hemoglobinas Anormais/metabolismo , Músculo Esquelético/fisiologia , Oxigênio/metabolismo , Esforço Físico/fisiologia , Adulto , Eletromiografia , Teste de Esforço , Feminino , Hemoglobinopatias/fisiopatologia , Humanos , Consumo de Oxigênio/fisiologia , Troca Gasosa Pulmonar/fisiologia
11.
Acta Physiol Hung ; 102(1): 86-93, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25481366

RESUMO

The analysis of some extra- and intragenic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of cystic fibrosis (CF) is highly heterogeneous in our population, the study of haplotype association with normal and CF chromosomes could be very helpful in cases where one or both mutations remain unidentified. In this study, we analysed with PCR-RFLP and capillary electrophoresis some extra (pJ3.11, KM19 and XV2C) and intragenic (IVS8CA, IVS17bTA and IVS17bCA) polymorphic markers in 50 normal and 10 Tunisian patients carrying the rare E1104X mutation in order to determine the haplotype associated with this mutation. For the extragenic markers, 8 haplotypes were identified. The most frequent of them are the 221 and 112 accounting for 80% of total haplotypes. For the intragenic markers, five haplotypes were present on the E1104X chromosomes. One of them 16-31-13 accounted for 50%. To our knowledge, this is the first work to be interested to the haplotypes linked to the E1104X mutation. This preliminary study of haplotypes could be a helpful method to determine the molecular lesions responsible of this pathology.


Assuntos
Fibrose Cística/genética , Predisposição Genética para Doença/genética , Haplótipos/genética , Pré-Escolar , Fibrose Cística/epidemiologia , Feminino , Marcadores Genéticos/genética , Predisposição Genética para Doença/epidemiologia , Humanos , Lactente , Masculino , Mutação/genética , Projetos Piloto , Polimorfismo de Nucleotídeo Único/genética , Prevalência , Tunísia/epidemiologia
12.
Braz J Med Biol Res ; 47(1): 35-41, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24519090

RESUMO

The incidence of colorectal cancer (CRC) is increasing daily worldwide. Although different aspects of CRC have been studied in other parts of the world, relatively little or almost no information is available in Pakistan about different aspects of this disease at the molecular level. The present study was aimed at determining the frequency and prevalence of K ras gene mutations in Pakistani CRC patients. Tissue and blood samples of 150 CRC patients (64% male and 36% female) were used for PCR amplification of K ras and detection of mutations by denaturing gradient gel electrophoresis, restriction fragment length polymorphism analysis, and nucleotide sequencing. The K ras mutation frequency was found to be 13%, and the most prevalent mutations were found at codons 12 and 13. A novel mutation was also found at codon 31. The dominant mutation observed was a G to A transition. Female patients were more susceptible to K ras mutations, and these mutations were predominant in patients with a nonmetastatic stage of CRC. No significant differences in the prevalence of K ras mutations were observed for patient age, gender, or tumor type. It can be inferred from this study that Pakistani CRC patients have a lower frequency of K ras mutations compared to those observed in other parts of the world, and that K ras mutations seemed to be significantly associated with female patients.


Assuntos
Neoplasias Colorretais/genética , Genes ras/genética , Mutação/genética , Adulto , Feminino , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Estadiamento de Neoplasias , Paquistão , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição
13.
Braz. j. med. biol. res ; 47(1): 35-41, 01/2014. tab, graf
Artigo em Inglês | LILACS | ID: lil-697670

RESUMO

The incidence of colorectal cancer (CRC) is increasing daily worldwide. Although different aspects of CRC have been studied in other parts of the world, relatively little or almost no information is available in Pakistan about different aspects of this disease at the molecular level. The present study was aimed at determining the frequency and prevalence of K ras gene mutations in Pakistani CRC patients. Tissue and blood samples of 150 CRC patients (64% male and 36% female) were used for PCR amplification of K ras and detection of mutations by denaturing gradient gel electrophoresis, restriction fragment length polymorphism analysis, and nucleotide sequencing. The K ras mutation frequency was found to be 13%, and the most prevalent mutations were found at codons 12 and 13. A novel mutation was also found at codon 31. The dominant mutation observed was a G to A transition. Female patients were more susceptible to K ras mutations, and these mutations were predominant in patients with a nonmetastatic stage of CRC. No significant differences in the prevalence of K ras mutations were observed for patient age, gender, or tumor type. It can be inferred from this study that Pakistani CRC patients have a lower frequency of K ras mutations compared to those observed in other parts of the world, and that K ras mutations seemed to be significantly associated with female patients.


Assuntos
Adulto , Feminino , Humanos , Masculino , Neoplasias Colorretais/genética , Genes ras/genética , Mutação/genética , Genótipo , Predisposição Genética para Doença/genética , Estadiamento de Neoplasias , Paquistão , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição
14.
Mol Biol Rep ; 40(11): 6205-12, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24065537

RESUMO

Beta-thalassemia is the most frequent hereditary blood disorder in Tunisia because of its geographic localization and history. This pathology is characterized by a complex multisystem process with genetic and biochemical interactions. The aim of this work was to establish phenotype/genotype association through studying the distribution and the relationship between ß-thalassemia and α-thalassemia mutations and three polymorphic markers: the C → T polymorphism at -158 of the Gγ gene, the RFLP haplotype and the repeated sequence (AT)xTy in the ß globin silencer, in two groups of ß-thalassemia major and ß-thalassemia intermedia (TI) patients. Statistical analysis has shown that moderate expression seen in TI patients was significantly associated to ß(+) -87 (C → G), -30 (T → A) and IVSI-6 (T → C) mutations, haplotypes VIII, IX and Nb and to XmnI polymorphism. The regression analysis of combined genotypes (mutation/XmnI/RFLP haplotype) revealed that they contribute to justify 17.1 % of clinical expression diversity (p < 0.05). Among the studied genotypes the XmnI polymorphism seems to be the most determinant modulating factor, followed by the ß-thalassemia mutation and RFLP haplotype. Our findings highlight the heterogeneity of molecular background of ß-thalassemia that would be responsible of clinical variability.


Assuntos
Estudos de Associação Genética , Heterogeneidade Genética , Globinas beta/genética , Talassemia beta/diagnóstico , Talassemia beta/genética , Adolescente , Adulto , Criança , Pré-Escolar , Ordem dos Genes , Haplótipos , Hemoglobinas/genética , Hemoglobinas/metabolismo , Humanos , Pessoa de Meia-Idade , Mutação , Motivos de Nucleotídeos , Fenótipo , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Regiões Promotoras Genéticas , Tunísia , Adulto Jovem , Talassemia alfa/genética , Talassemia alfa/metabolismo , Talassemia beta/sangue , gama-Globinas/genética
15.
Clin Med (Lond) ; 13(4): 349-52, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23908502

RESUMO

The chest X-ray (CXR) is an important diagnostic tool in diagnosing and monitoring a spectrum of diseases. Despite our universal reliance on the CXR, our ability to confidently diagnose and accurately document our findings can be unreliable. We sought to assess the diagnostic accuracy and certainty of making a diagnosis based on 10 short clinical histories with one CXR each. We conclude from our study that specialist registrars (StRs) and consultants scored the highest marks with the highest average certainty levels. Junior trainees felt least certain about making their diagnosis and were less likely to be correct. We recommend that StRs and consultants review all the CXRs requested to ensure accuracy of diagnosis. There also needs to be discussion with the Joint Royal Colleges of Physicians Training Board (JRCPTB) about the need of including a separate CXR competency as part of a trainee's generic curriculum on the e-portfolio, something which is currently lacking.


Assuntos
Competência Clínica , Educação Médica Continuada/métodos , Interpretação de Imagem Assistida por Computador/métodos , Radiografia Torácica/normas , Radiologia/educação , Doenças Torácicas/diagnóstico por imagem , Humanos , Valor Preditivo dos Testes , Curva ROC , Reprodutibilidade dos Testes
16.
Mol Biol Rep ; 40(2): 851-6, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23065279

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect. In this study, we aimed to perform a molecular investigation of G6PD deficiency in Tunisia and to associate clinical manifestations and the degree of deficiency with the genotype. A total of 161 Tunisian subjects of both sexes were screened by spectrophotometric assay for enzyme activity. Out of these, 54 unrelated subjects were selected for screening of the most frequent mutations in Tunisia by PCR/RFLP, followed by size-based separation of double-stranded fragments under non-denaturing conditions on a denaturing high performance liquid chromatography system. Of the 56 altered chromosomes examined, 75 % had the GdA(-) mutation, 14.28 % showed the GdB(-) mutation and no mutations were identified in 10.72 % of cases. Hemizygous males with GdA(-) mutation were mostly of class III, while those with GdB(-) mutation were mainly of class II. The principal clinical manifestation encountered was favism. Acute hemolytic crises induced by drugs or infections and neonatal jaundice were also noted. Less severe clinical features such as low back pain were present in heterozygous females and in one homozygous female. Asymptomatic individuals were in majority heterozygote females and strangely one hemizygous male. The spectrum of mutations seems to be homogeneous and similar to that of Mediterranean countries; nevertheless 10.72 % of cases remain with undetermined mutation thus suggesting a potential heterogeneity of the deficiency at the molecular level. On the other hand, we note a better association of the molecular defects with the severity of the deficiency than with clinical manifestations.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Mutação de Sentido Incorreto , Adolescente , Adulto , Análise do Polimorfismo de Comprimento de Fragmentos Amplificados , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Frequência do Gene , Estudos de Associação Genética , Heterozigoto , Humanos , Masculino , Tunísia , Adulto Jovem
17.
Tissue Antigens ; 77(1): 68-73, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21155722

RESUMO

Platelet endothelial cell adhesion molecule 1 (PECAM-1/CD31) is one of the human minor histocompatibility antigens that are the main targets of alloreactive T-cells after hematopoietic stem cells or solid organs transplantation. In order to investigate its polymorphism in Tunisians, three single nucleotide polymorphisms (SNPs) (rs668, rs12953 and rs1131012) were selected to perform an allele and haplotype analysis. Hundred-and-forty-two healthy and unrelated subjects were enrolled in this survey. Genomic DNAs were extracted using salting out method. SNP genotyping assays were performed with home-designed sequence-specific primers polymerase chain reaction (SSP-PCR). As a result, molecular analysis showed that PECAM-1 is one of the most polymorphic markers in the Tunisian population because minor allele frequency was 0.3, and minimum haplotype frequency was 0.03. A low linkage disequilibrium (D' = 0.45) between rs12953 and rs1131012 was noticed, although all other loci were in the Hardy-Weinberg equilibrium (minimum P value = 0.07). The frequencies were close to those reported in African-American and Caucasian groups.


Assuntos
Biomarcadores , Antígenos de Histocompatibilidade Menor/genética , Molécula-1 de Adesão Celular Endotelial a Plaquetas/genética , Polimorfismo de Nucleotídeo Único , Frequência do Gene , Estudos de Associação Genética , Humanos , Tunísia
18.
J Genet ; 87(3): 229-34, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19147907

RESUMO

Unlike the other haemoglobinopathies, few researches have been published concerning alpha-thalassaemia in Tunisia. The aim of the present work is to acquire further data concerning alpha-thalassaemia prevalence and molecular defects spectrum in Tunisia, by collecting and studying several kinds of samples carrying alpha-thalassaemia. The first survey conducted on 529 cord blood samples using cellulose acetate electrophoresis, have displayed the prevalence of 7.38% Hb Bart's carriers at birth. Molecular analyses were conducted by PCR and DNA sequencing on 20 families' cases from the above survey carrying the Hb Bart's at birth and on 10 Hb H diseased patients. The results showed six alpha-globin gene molecular defects and were responsible for alpha-thalassaemia: -alpha(3.7), - -(MedI), alpha(TSaudi), alpha(2)(cd23GAG->Stop), Hb Greone Hart: alpha(1)(119CCT->TCT) corresponding to 11 genotypes out of which two are responsible for Hb H disease (- -(Med)/-alpha(3.7)) and (alpha(TSaudi)alpha/alpha(TSaudi)alpha) and a newly described polymorphism: alpha+6C->G. The geographical repartition of alpha-thal carriers showed that the -alpha3.7 deletion is distributed all over the country, respectively the alpha(HphI) and alpha(TSaudi) seem to be more frequent in the central region of the northeast region. The haematological and clinical data showed a moderate phenotype with a late age of diagnosis for Hb H disease. This work had permitted, in addition to an overview on alpha-thalassaemia in the country, the optimization of protocols for alpha-thalassaemia detection in our lab, allowing further investigations concerning phenotype-genotype correlation in sickle cell disease or beta-thalassaemia.


Assuntos
Talassemia alfa/epidemiologia , Talassemia alfa/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Genótipo , Hemoglobina H/genética , Humanos , Ferro/metabolismo , Masculino , Mutação/genética , Tunísia/epidemiologia
19.
Ann Biol Clin (Paris) ; 65(2): 175-9, 2007.
Artigo em Francês | MEDLINE | ID: mdl-17353172

RESUMO

A Tunisian patient affected by mucopolysaccharidosis (MPS) was investigated for a biological analysis (quantitative and qualitative glycosaminoglycans (GAG) screening). We have also done an enzymatic determination of alpha-L-iduronidase activity (IDUA). The most common mutation (p.Gln 70 X, p.Trp 402X and p.Pro 533 Arg) were researched by an enzymatic restriction and sequencing of the IDUA gene. Enzymatic and urinary diagnostics suggested a MPS I phenotype. The patient investigated had the mutation p.Pro 533 Arg in the homozygous status, whereas his parents were heterozygous for this mutation.


Assuntos
Mucopolissacaridose I/diagnóstico , Criança , Humanos , Masculino , Mucopolissacaridose I/genética , Tunísia
20.
Ann Biol Clin (Paris) ; 64(6): 565-73, 2006.
Artigo em Francês | MEDLINE | ID: mdl-17162259

RESUMO

Iron deficiency (ID) is the most common nutritional deficiency worldwide especially among young children, women in pregnancy and breastfeeding. This study was undertaken to assess the prevalence of ID in 1288 pupil ranging in age from 11 to 14 years. Haemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), serum iron (Fe) serum transferrin (Trf), serum ferritin (Ft) and an inflammtory proteic profil (IPP) were measured. The IPP combines the analysis of protein variations: protein results are converted in percent of normal values referenced for the technique used. It has been suggested that on the protein profile, an increase in serum transferrin level compared to a normal serum albumin level (DAT: difference albumin-transferrin), appears early in the course of ID. Iron deficiency was defined by a low serum ferritin (< 15 ng/mL) and/or a pathologic DAT (> 28%). Approximately, 33.8% of children had Ft < 15 ng/mL and 12,8% had DAT > 28% while ferritin values were in the normal range. Diagnosis performance (sensitivity, specificity and diagnosis efficacy) of ferritin and DAT were compared to the performance of high serum transferrin receptor (sTfR) values in 2 populations presenting or not a biological inflammation. Only the diagnosis efficacy of DAT was constant in both situations. In conclusion, the serum ferritin concentration is the first indicator of body storage iron identifying ID, however normal or elevated values of ferritin may be difficult to interpret particulary in the presence of inflammation. sTfR and DAT values are thus reliable indicators of ID in such circumstances.


Assuntos
Anemia Ferropriva/sangue , Anemia Ferropriva/diagnóstico , Albumina Sérica/metabolismo , Transferrina/metabolismo , Adolescente , Anemia Ferropriva/epidemiologia , Criança , Feminino , Hemoglobinas/análise , Humanos , Ferro/sangue , Masculino , Tunísia/epidemiologia
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