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The Tunisian population has experienced a nutrition transition with an increase in the incidence of obesity. As obesity has been associated with a poor orosensory detection of fat. We hypothesized that poor fat detection could be a driver of poor diet quality. This study examined the association between linoleic acid (LA) detection and adherence to a healthy diet among adult participants. A total of 104 LA taster participants were recruited for this study. Dietary assessment was conducted using the 24 h dietary recall method. Diet quality was assessed by determining the Mediterranean diet (MD) score and Health diet indicator (HDI). The relationship between diet quality and log LA detection threshold was done using adjusted linear regression for age, sex, and daily energy intake (only in the fully adjusted model). The predictive margins model (interaction: anthropometric status x LA threshold) was used to assess the difference between non-obese and subjects with obesity adherence to MD across LA detection values. We have observed that the increase in the concentration of linoleic acid detection by 1 log(mmol/L) is associated with an increase of HDI score by 0.12-point [95% CI: 0.02-0.21] and a decrease of the MD score by -0.14-point [-0.25 to -0.03] in the partially adjusted model. However, only the MD score remained negatively associated with LA detection threshold in the fully adjusted model. The subjects with obesity adherence to the Mediterranean diet was lower than subjects with normal weight for LA concentration less than 0 log(mmol/L). The present study suggests that poor orosensory detection of dietary lipids might be a driver for worsening diet quality. Hence, These subjects might be at risk for obesity and, consequently, exposed cumulatively to the harmful effects of excess adiposity and an unhealthy diet.
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Dieta Mediterránea , Gusto , Adulto , Índice de Masa Corporal , Estudios Transversales , Dieta , Humanos , Ácido Linoleico , Obesidad/epidemiología , Obesidad/etiologíaRESUMEN
BACKGROUND: Thalassemia is one of the most prevalent worldwide autosomal recessive disorders characterized by a great molecular and clinical expression heterogeneity. Alpha and beta-thalassemia are the main two types observed in case of mutations affecting alpha and beta-globin genes respectively. Delta-thalassemia is noted when mutations occur on the delta-globin gene. In Tunisia, ß-thalassemia prevalence is estimated at 2.21% of carriers. However, few reports investigated the delta-globin gene. OBJECTIVES: In this work, we aimed to perform a molecular study to help define the molecular spectrum of δ-thalassemia mutations in Tunisia. PATIENTS AND METHODS: The study involved 7558 patients among whom we selected 179 individuals with abnormal HbA2 values or fractions. Hemoglobin analysis was performed using Capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). DNA sequencing was performed on ABI prism 310 Genetic Analyzer Applied Biosystems. CUPSAT (Cologne University Protein Stability Analysis Tool) was used for the prediction of protein stability changes upon missense mutations and mutants were modeled via DeepView-SwissPdbViewer and POV-Ray softwares for molecular dynamics simulation studies. RESULTS: We identified four mutations: HbA2-Yialousa described for the first time in Tunisia ( in 72.72% of cases) and 3 mutations reported for the first time in the world: (i) c.442 T > C Stop147Arg ext 15aa-stop observed in 18.18% of cases, (ii) c.187 G > C (Ala62Pro) noted in 4.54% of cases and (iii) c.93-1G > C found in 4.54% of cases. CONCLUSION: Our data provide genetic basis that would be especially useful in screening for beta-thalassemia trait during delta-beta thalassemia associations.
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Globinas delta/genética , Talasemia delta/genética , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Secuencia de Bases/genética , Femenino , Frecuencia de los Genes/genética , Hemoglobina A2/genética , Hemoglobinas/genética , Humanos , Masculino , Persona de Mediana Edad , Mutación/genética , Análisis de Secuencia de ADN/métodos , Túnez/epidemiología , Globinas beta/genética , Talasemia beta/genética , Globinas delta/metabolismo , Talasemia delta/metabolismoRESUMEN
BACKGROUND: Physical activity (PA) is an important agent in the prevention of chronic diseases such as obesity. OBJECTIVES: To provide preliminary data on PA among school children and to correlate the PA with weight status. MATERIAL AND METHODS: A total of 40 children aged between 8 and 11 years and attending Tunisian schools were recruited. The body composition was determined by using the deuterium oxide dilution technique. PA was determined by the PAQ-C (PA Questionnaire for Older Children). An objective monitoring of PA and sedentary time was achieved by using ActiGraph GT3X + accelerometers. RESULTS: PAQ-C data demonstrate that 20% of the sample had light PA levels and 80% had moderate PA levels. Times spent in sedentary (62.37%) and light (30.80%) activities were higher than that spent in moderate and vigorous (6.83%) activities. Furthermore, almost half of the sample spent more than 60 min per day in moderate-to-vigorous intensity PA (MVPA). The average MVPA was significantly higher in normal weight than overweight and obese groups (67.68 ± 20.98 vs. 49.07 ± 19.09, p = 0.007). The proportion of overweight children who spent more than 60 min per day in MVPA was significantly higher than that of normal-weight (60.9 vs. 29.4%; p = 0.049). CONCLUSION: This study indicates that half of school children comply with the health-based guidelines for PA and sedentary behavior. Our findings also suggest that obesity was associated with decrease in PA in Tunisian children.
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Acelerometría , Ejercicio Físico , Encuestas y Cuestionarios , Composición Corporal , Peso Corporal , Niño , Deuterio , Femenino , Humanos , Técnicas de Dilución del Indicador , Masculino , Obesidad , Sobrepeso , Conducta Sedentaria , Estudiantes , TúnezRESUMEN
AIM OF THE STUDY: Recent genome-wide association studies (GWASs) have identified many genetic variants associated with metabolic syndrome (MetS). However, their contribution to MetS in ethnic groups in Tunisia is largely unexplored. In this study, we aim to examine the associations of related loci with a risk of metabolic syndrome in a sample of Tunisians. MATERIALS AND METHODS: Overall seven polymorphisms rs7265718, rs10401969, rs762861, rs12310367, rs1562398, rs2059807, rs4420638 located at C20orf152, CILP2, LRPAP1, ZNF664, KLF14, INSR, APOE, respectively, were analyzed in 356 samples from the Tunisian population. Anthropometric and biochemical parameters were assessed. Metabolic syndrome was defined according to the International Diabetes Federation (IDF). RESULTS: We find that LRPAP1-rs762861 C allele increases susceptibility to MetS (OR = 1.39, 95% CI = 0.99-1.95, p = 0.041). Separate analysis in men and women revealed the association of rs762861 among females (OR = 1.6, 95% CI = 1.057-2.41, p = 0.021), but not among males (OR = 0.953, 95% CI = 0.51-1.78, p = 0.882). ZNF664-rs12310367 was also found to be associated with body mass index (BMI) in women (p = 0.01) and not in men (p = 0.18). KLF14-rs1562398 was significantly correlated with impaired fasting glucose (p = 0.004) only in men. CONCLUSIONS: Our results reveal new candidate genes for MetS in the Tunisian population and suggest that the genetic basis of this syndrome is gender dependent. Further studies are necessary to understand why these associations differ between males and females.
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Síndrome Metabólico/etnología , Síndrome Metabólico/genética , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Túnez/etnologíaRESUMEN
INTRODUCTION: Sarcopenia is a clinical condition defined as low skeletal muscle mass and function. It has been identified and described as a geriatric syndrome, but it may arise in individuals with obesity at any age. AIM: screen for sarcopenia in obese adults and identify the nutritional, clinical and biological risk factors associated with the development of sarcopenic obesity (SO+). METHODS: Descriptive cross-sectional study, including 53 obese patients. Screening for sarcopenia has been established according to pathological thresholds proposed by the European Society for Clinical Nutrition and Metabolism (ESPEN) and the European Association for the Study of Obesity (EASO). RESULTS: Mean age was 44.34±13.51 years. Prevalence of Sarcopenia was 7.5% (SO+). The average intakes of calorie, lipids and saturated fatty acids were higher in SO+. A statistically significant relationship was found between low skeletal muscle mass (SMM/W) and the average intake of vitamin PP (p=0.014) and vitamin B9 (p=0.009). Mean BMI (45.86 kg/m² for SO+ versus 39.29 kg/m² for SO-; p=0.03) and mean visceral fat (16.55 l for SO+, versus 10.93 l for SO-; p=0.043) were significantly higher in SO+. A statistically significant relationship was found between insulin resistance and low (SMM/W), as attested by mean insulinemia (28.81 µIU/mL for low SMM/W, versus 14.48 µIU/mL for normal SMM/W; p=0.004) and HOMA index (7.94 for low SMM/W, versus 3.49 for normal SMM/W; p=0.002), which were higher in cases of low (SMM/W). CONCLUSION: We recommend promoting a balanced, low-energy-density diet to improve insulin sensibility and thus reduce the risk of sarcopenia. Regular physical activity is also strongly recommended.
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Obesidad , Sarcopenia , Humanos , Sarcopenia/epidemiología , Sarcopenia/diagnóstico , Sarcopenia/etiología , Túnez/epidemiología , Adulto , Estudios Transversales , Prevalencia , Factores de Riesgo , Masculino , Femenino , Persona de Mediana Edad , Obesidad/epidemiología , Obesidad/complicaciones , Resistencia a la Insulina , AncianoRESUMEN
BACKGROUND AND OBJECTIVES: Urolithiasis, commonly known as kidney stones, is a condition significantly impacted by dietary habits. The objective of this study is to evaluate the impact of a tailored dietary plan on the crystalluria and biological parameters of patients with different types of kidney stones over a 3-month period. METHODS AND STUDY DESIGN: We conducted a prospective study of 3 months. The study involved patients with recurrent nephrolithiasis. Alongside the medical consultation, a comprehensive dietary survey was performed to assess the patients' nutritional habits. Urinary parameters, including volume, calcium, oxalate, uric acid, and power of hydrogen (pH), were evaluated both before and after the dietary intervention. RESULTS: 69 patients were involved. There were 17 patients diagnosed with cystine lithiasis, 33 with oxalocalcic lithiasis and 19 with uric lithiasis. After 3 months, only 32 patients revisited for follow-up. There were significant changes (p = 0.002 and 0.04) in urine crystalluria for cystinic and uric lithiasis. For the urinary oxalate variation, there was a significant decrease from T1 (before dietary intervention) to T2 (after dietary intervention), with levels dropping from 0.289 ± 0.10 umol/l to 0.215 ± 0.079 umol/l (p = 0.02).Regarding urinary calcium (calciuria), there was a trend toward a decrease from T1 to T2, although the change was not statistically significant, with levels decreasing from 2.42 ± 1.68 umol/l to 2.14 ± 1.62 umol/l (p = 0.1). CONCLUSIONS: Our research underscores the favorable effects of a tailored and well-balanced diet on both the crystalluria and biological parameters of individuals with recurrent lithiasis.
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Given the global decline in adherence to the Mediterranean Diet (MD), even within its native region, it is key to identify the factors influencing this trend to mitigate the negative health outcomes associated with westernized diets. To this end, 4025 individuals (49.6% women, 42.6 ± 14.2 y/o) from Greece, Italy, Morocco, Slovenia, and Tunisia remotely completed a series of measures assessing motives, attitudes, and psychosocial factors related to MD adherence, which was evaluated using the MEDAS questionnaire. The results suggested medium-to-low adherence across all countries, with the highest adherence in Italy and Morocco and the lowest in Slovenia. Structural equation modeling revealed that positive attitudes toward the healthiness of food were the strongest predictors of adherence, whereas picky eating was a significant negative predictor in all countries except Greece. Adherence to the MD was positively influenced by health motivations in Morocco and weight control in Slovenia and Greece, while sensory appeal negatively influenced adherence in Italy. Additionally, price and convenience were significant barriers in Tunisia and Greece, whereas a preference for local and seasonal foods promoted adherence in Morocco and Greece. Overall, our findings underscore the need for country-specific interventions and policies that address distinct local factors and motivations to ease favorable shifts in dietary patterns toward MD principles.
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Dieta Mediterránea , Humanos , Dieta Mediterránea/estadística & datos numéricos , Dieta Mediterránea/psicología , Femenino , Masculino , Adulto , Marruecos , Italia , Persona de Mediana Edad , Grecia , Túnez , Eslovenia , Motivación , Encuestas y Cuestionarios , Conducta Alimentaria/psicología , Cooperación del Paciente/estadística & datos numéricosRESUMEN
INTRODUCTION: The worldwide obesity epidemic continues unabated. Obesity and its associated health risks are considered as the major causes of morbidity and mortality. Currently, bariatric surgery is the most effective treatment for people with severe obesity resulting in sustainable weight loss and a reduced risk for co-morbidities. Sleeve gastrectomy is the most common bariatric procedure undertaken in Tunisia. AIM: we aim to evaluate the vitamin status of the obese patients before and after sleeve gastrectomy. METHODS: Thirty obese patients undergoing sleeve gastrectomy, were recruited from Obesity unit. In this study. A biological assessment was performed pre-operatively and controlled 6 months following the sleeve gastrectomy including: calcemia, parathyroid hormone (PTH), albuminemia and dosage of vitamin D, vitamin B9 and vitamin B12. RESULTS: Six months post sleeve gastrectomy, vitamin deficiencies were more prevalent: the mean level of vitamin B9, vitamin B12 and vitamin D respectively, has decreased from 5.03±3.28 ng / ml to 2.71±1.52 ng / ml, from 348.06±158.92 pg/ml to 264.62±119.77 pg/ml and from 17.18±11.45 ng/ml to 11.69±8.22 ng/ml, with a statistically significant difference (p=0.008, p=0.01 and p=0.012). Sleeve gastrectomy has proven to be an effective weight loss treatment. However, nutritional deficiencies have worsened during postoperative period. CONCLUSION: This study highlights the importance of early identification, appropriate treatment and prophylactic micronutrient supplementation.
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Obesidad , Vitaminas , Adulto , Humanos , Vitaminas/uso terapéutico , Obesidad/complicaciones , Obesidad/epidemiología , Obesidad/cirugía , Vitamina D , Gastrectomía/efectos adversos , Pérdida de PesoRESUMEN
OBJECTIVE: To develop and validate equations that estimate total body water (TBW) and fat-free mass (FFM) in adults using anthropometric measurements. METHODS: A cross-sectional study was conducted among 178 adults (77 men and 101 women; aged 18-59 years). Participants were distributed by sex and age groups, and then randomly assigned to equal two groups; the development (n = 89) and the validation (n = 89). The anthropometric measurements included height and weight. The deuterium dilution technique (DDT) estimated TBW and FFM. Linear regression models were used with the TBW and FFM as the dependent variable, and height and weight as the independent variables. Cross-validation was performed by Bland and Altman plot, and the new anthropometric equations were developed. RESULTS: In the validation sample, the developed equations had high R2 of 94.4 for both TBW and FFM in all age groups, and low standard errors (RMSE: 1.80 kg for TBW and 2.44 kg for FFM). The pure error was 2.03 for the TBW equation and 2.71 for the FFM equation. The Bland-Altman plot illustrated the good level of concordance between the TBW and FFM predicted by the new equations as determined by DDT. The following developed equations showed a better agreement with the DDT: [Formula: see text]; [Formula: see text]. CONCLUSION: In this study, we developed and validated prediction equations for the estimation of TBW and FFM from DDT in healthy adult Tunisian population. The newly anthropometric prediction equations seem to be the most accurate for Tunisian adult.
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Composición Corporal , Agua Corporal , Adulto , Femenino , Humanos , Masculino , Estudios Transversales , Impedancia Eléctrica , Adolescente , Adulto Joven , Persona de Mediana EdadRESUMEN
INTRODUCTION: A substantial proportion of obese subjects are metabolically healthy and free from metabolic complications. Many mechanisms that could explain the existence of the metabolically healthy obese phenotype have been suggested, involving in particular a healthy lifestyle and diet. The aim of this study was to study the anthropometric, nutritional and biological profile of two groups: obese with metabolic syndrome (MS+) and obese without metabolic syndrome (MS-). METHODS: It is a cross-sectional study, conducted between January 2022 and 15 March 2022. We recruited 90 obese MS+ and 82 obese MS - . Both groups were matched for age and sex. The glycemia, triglycerides (TG), total cholesterol (TC), HDL-C, LDL-C were measured as well as the body composition and anthropometric data. The diet was determined by the 24-hour recalls. Eating disorders, sleep disorders (PSS4 scale) and depression (HADS) were also searched. RESULTS: In MS+ group we noticed: higher BMI, waist circumference, more caloric diet, elevated consumption of saccharides. This group had more eating disorders such as night eating syndrome and bulimia and sleeping disorders (sleep onset and total insomnia). MS + group was more stressed and depressed. The MS - group had a Mediterranean diet and had more intake of: EPA, DHA, olive oil, green tea, oleaginous fruits, linseed, vegetables and whole grains. They also practiced more fasting. CONCLUSIONS: It is important to know the protective nutritional factors of the metabolic syndrome in order to be able to focus on them during education sessions and thus protect the obese from metabolic complications.
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Síndrome Metabólico , Humanos , Estudios Transversales , Síndrome Metabólico/complicaciones , Obesidad/complicaciones , Obesidad/metabolismo , Factores de Riesgo , Triglicéridos , Índice de Masa CorporalRESUMEN
INTRODUCTION: The management of obesity is difficult with many failures of lifestyle measures, hence the need to broaden the range of treatments prescribed. The aim of our work was to study the influence of pre and probiotics on weight loss psychological profile and metabolic parameters in obese patients. METHODS: It is a clinical trial involving 45 obese patients, recruited from the Obesity Unit of the National Institute of Nutrition between March and August 2022 divided into three groups: diet only (low-carbohydrate and reduced energy diet), prebiotics (30 g of carob/day) and probiotics (one tablet containing Bifidobacterium longum, Lactobacillus helveticus, Lactococcus lactis, Streptococcus thermophilus/day). The three groups were matched for age, sex and BMI. Patients were seen after 1 month from the intervention. Anthropometric measures, biological parameters, dietary survey and psychological scores were performed. RESULTS: The average age of our population was 48.73 ± 7.7 years, with a female predominance. All three groups showed a significant decrease in weight, BMI and waist circumference with p < .05. Only the prebiotic and probiotic group showed a significant decrease in fat mass (p = .001) and a significant increase in muscle strength with p = .008 and .004, but the differences were not significant between the three groups. Our results showed also a significant decrease in insulinemia and HOMA-IR in the prebiotic group compared to the diet-alone group (p = .03; p = .012) and the probiotic group showed a significant decrease in fasting blood glucose compared to the diet alone group (p = .02). A significant improvement in sleep quality was noted in the prebiotic group (p = .02), with a significant decrease in depression, anxiety and stress in all three groups. CONCLUSIONS: The prescription of prebiotics and probiotics with the lifestyle measures seems interesting for the management of obesity especially if it is sarcopenic, in addition to the improvement of metabolic parameters and obesity-related psychiatric disorders.
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Prebióticos , Probióticos , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dieta , Obesidad , Pérdida de PesoRESUMEN
Gut microbiota plays a key role in the regulation of metabolism and immunity. We investigated the profile of gut microbiota and the impact of dietary intake on gut bacterial distribution in diabetic and healthy Tunisian subjects, aiming to identify a dysbiotic condition, hence opening the way to restore eubiosis and facilitate return to health. In the present research, we enrolled 10 type 1 diabetic (T1D), 10 type 2 diabetic (T2D) patients and 13 healthy (H) subjects. Illumina Miseq technology was used to sequence V3-V4 hypervariable regions of bacterial 16SrRNA gene. Data were analyzed referring to QIIME 2 pipeline. RStudio software was used to explore the role of nutrition in gut bacterial distribution. At the phylum level, we identified an imbalanced gut microbiota composition in diabetic patients marked by a decrease in the proportion of Firmicutes and an increase in the abundance of Bacteroidetes compared with H subjects. We observed higher amounts of Fusobacteria and a decline in the levels of TM7 phyla in T1D patients compared with H subjects. However, we revealed a decrease in the proportions of Verrucomicrobia in T2D patients compared with H subjects. At the genus level, T2D subjects were more affected by gut microbiota alteration, showing a reduction in the relative abundance of Faecalibacterium, Akkermansia, Clostridium, Blautia and Oscillibacter, whereas T1D group shows a decrease in the proportion of Blautia. The gut bacteria distribution was mainly affected by fats and carbohydrates consumption. Gut microbiota composition was altered in Tunisian diabetic patients and affected by dietary habits.
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Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Microbioma Gastrointestinal , Humanos , Estado Nutricional , Microbioma Gastrointestinal/genética , Bacterias/genéticaRESUMEN
BACKGROUND: Taste disorders (TDs) have been reported to be very common in patients suffering from coronavirus disease 2019 (COVID-19), which is caused by the SARS-CoV-2 virus. In most of the hitherto conducted studies, a gustatory assessment was performed on the basis of surveys or self-reports by patients. The aim of our study was to undertake an objective assessment of four basic taste qualities by conducting tasting sessions that allowed detection thresholds in COVID-19 Tunisian patients and to study their associations with inflammation. METHODS: This analytical cross-sectional study was conducted on 89 patients aged between 21 to 70 years who had been diagnosed with COVID-19. We used Burghart taste strips to assess taste perception of the four taste qualities, i.e., sour, bitter, sweet, and salty. Serum levels of interleukin-1ß (IL-1ß), interleukin-6 (IL-6), tumor necrosis factor alpha (TNF-α), and C-reactive protein (CRP) were measured. RESULTS: Taste disorders were reported by 40.4% of the patients, while objective assessments revealed that 63.8% of participants were suffering from hypogeusia and/or ageusia. Sour taste was the most altered (70.8%) gustatory quality. Patients with severe COVID-19 had significantly lower sour and bitter taste scores when compared to patients with minor/moderate forms. There was no significant association between serum inflammatory markers and taste disorders. However, the relationship between bitter and sweet taste qualities and IL-1ß levels was significant (p = 0.018 and p = 0.041). CONCLUSIONS: Our results demonstrate the interest in the objective assessment of taste dysfunctions in COVID-19 patients.
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Introduction: Type 2 diabetes (T2D) is a multifactorial disease involving genetic and environmental components. Several genome-wide association studies (GWAS) have been conducted to decipher potential genetic aberrations promoting the onset of this metabolic disorder. These GWAS have identified over 400 associated variants, mostly in the intronic or intergenic regions. Recently, a growing number of exome genotyping or exome sequencing experiments have identified coding variants associated with T2D. Such studies were mainly conducted in European populations, and the few candidate-gene replication studies in North African populations revealed inconsistent results. In the present study, we aimed to discover the coding genetic etiology of T2D in the Tunisian population. Methods: We carried out a pilot Exome Wide Association Study (EWAS) on 50 Tunisian individuals. Single variant analysis was performed as implemented in PLINK on potentially deleterious coding variants. Subsequently, we applied gene-based and gene-set analyses using MAGMA software to identify genes and pathways associated with T2D. Potential signals were further replicated in an existing large in-silico dataset, involving up to 177116 European individuals. Results: Our analysis revealed, for the first time, promising associations between T2D and variations in MYORG gene, implicated in the skeletal muscle fiber development. Gene-set analysis identified two candidate pathways having nominal associations with T2D in our study samples, namely the positive regulation of neuron apoptotic process and the regulation of mucus secretion. These two pathways are implicated in the neurogenerative alterations and in the inflammatory mechanisms of metabolic diseases. In addition, replication analysis revealed nominal associations of the regulation of beta-cell development and the regulation of peptidase activity pathways with T2D, both in the Tunisian subjects and in the European in-silico dataset. Conclusions: The present study is the first EWAS to investigate the impact of single genetic variants and their aggregate effects on T2D risk in Africa. The promising disease markers, revealed by our pilot EWAS, will promote the understanding of the T2D pathophysiology in North Africa as well as the discovery of potential treatments.
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Diabetes Mellitus Tipo 2 , Humanos , Túnez/epidemiología , Diabetes Mellitus Tipo 2/genética , Exoma/genética , Estudio de Asociación del Genoma Completo , IntronesRESUMEN
Introduction: Monogenic diabetes (MD) accounts for 3%-6% of all cases of diabetes. This prevalence is underestimated due to its overlapping clinical features with type 1 and type 2 diabetes. Hence, genetic testing is the most appropriate tool for obtaining an accurate diagnosis. In Tunisia, few cohorts of MD have been investigated until now. The aim of this study is to search for pathogenic variants among 11 patients suspected of having MD in Tunisia using whole-exome sequencing (WES). Materials and methods: WES was performed in 11 diabetic patients recruited from a collaborating medical center. The pathogenicity of genetic variation was assessed using combined filtering and bioinformatics prediction tools. The online ORVAL tool was used to predict the likelihood of combinations of pathogenic variations. Then, Sanger sequencing was carried out to confirm likely pathogenic predicted variants among patients and to check for familial segregation. Finally, for some variants, we performed structural modeling to study their impact on protein function. Results: We identified novel variants related to MD in Tunisia. Pathogenic variants are located in several MODY and non-MODY genes. We highlighted the presence of syndromic forms of diabetes, including the Bardet-Biedl syndrome, Alström syndrome, and severe insulin resistance, as well as the presence of isolated diabetes with significantly reduced penetrance for Wolfram syndrome-related features. Idiopathic type 1 diabetes was also identified in one patient. Conclusion: In this study, we emphasized the importance of genetic screening for MD in patients with a familial history of diabetes, mainly among admixed and under-represented populations living in low- and middle-income countries. An accurate diagnosis with molecular investigation of MD may improve the therapeutic choice for better management of patients and their families. Additional research and rigorous investigations are required to better understand the physiopathological mechanisms of MD and implement efficient therapies that take into account genomic context and other related factors.
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Diabetes and hypertension are a serious public health problem worldwide. In the last decades, prevalence of these two metabolic diseases has dramatically increased in the Middle East and North Africa region, especially in Tunisia. This study aimed to determine the prevalence of type 2 diabetes (T2D) and High Blood Pressure (HBP) in Zaghouan, a North-East region of Tunisia. To this end, an exploratory study with stratified random sampling of 420 participants has been carried out. Various data were collected. Blood samples and urine were drawn for biochemical assay. Then, all data were analyzed using the statistical R software. Results showed an alarming situation with an inter-regional difference in prevalence of obesity (50.0%, CI 95.0%), HBP (39.0%, CI 95.0%) and T2D (32.0%, CI 95.0%). This study allowed the discovery of 24, 17 and 2 new cases of T2D, HBP and T2D&HBP respectively. The association of some socio-economic factors and biochemical parameters with these chronic diseases has been highlighted. To conclude, the health situation in the governorate of Zaghouan requires urgent interventions to better manage the growing epidemic of non-communicable diseases (NCD) in the region. This study demonstrated the importance of engaging health policy makers in road mapping and implementing national NCD prevention programs.
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Diabetes Mellitus Tipo 2 , Diabetes Mellitus , Hipertensión , Enfermedades no Transmisibles , Humanos , Diabetes Mellitus Tipo 2/epidemiología , Túnez/epidemiología , Prevalencia , Enfermedades no Transmisibles/epidemiología , Factores de Riesgo , Hipertensión/epidemiología , Diabetes Mellitus/epidemiologíaRESUMEN
AIM: To determine the frequency of cardiovascular risk factors and the prevalence of metabolic syndrome (MS) in obese children and adolescents. METHODS: This cross-sectional study concerned 186 obese children and adolescents (137 girls and 49 boys), between the ages of 6 and 18 years, recruited in the research unit on human obesity of the National Institute of Nutrition between December 2007 and October 2008. Metabolic syndrome was defined with the International Diabetes Federation (IDF) criteria. RESULTS: The frequency of MS was 34.4%. It was higher in males (40.8%) than in females (32.1%) but without statistical significance (p=0.27). Body mass index and waist circumference were significantly higher in subjects with metabolic syndrome than that of subjects without metabolic syndrome. The frequency of MS increases with age. Family history of obesity, birth weight and breastfeeding did not influence the prevalence of MS. The most common component, associated with abdominal obesity, was Glucose tolerance abnormalities observed in 51 % of the sample. 65.6% of subjects with MS had 3 criteria of the five proposed by the IDF. CONCLUSION: Metabolic syndrome is prevalent in our young obese population. Early identification of young at risk is crucial to the prevention of early cardiovascular diseases.
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Síndrome Metabólico/complicaciones , Obesidad/complicaciones , Adolescente , Índice de Masa Corporal , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Síndrome Metabólico/diagnóstico , Túnez , Circunferencia de la CinturaRESUMEN
The prevalence of Type 2 diabetes (T2D) is increasing worldwide. Genetics and lifestyle, especially diet, are contributing factors. Analyses of macro- and micronutrient intake across global populations may help to explain their impact on glucose homeostasis and disease development. To this end, 420 Tunisians were enrolled in a prospective cross-sectional study of daily food consumption. Various data were collected and blood samples were drawn for biochemical assay. A 24-h recall questionnaire was obtained from participants to evaluate dietary intake. Statistical analyses were conducted using Nutrilog and R software. Biochemical analyses stratified the studied population (n = 371) into three groups: diabetics (n = 106), prediabetics (n = 192) and controls (n = 73); 49 subjects were excluded. Our results showed that Tunisians had hypercaloric diets high in carbohydrates and fat with variability in the levels of some vitamins and minerals, including riboflavin and niacin, that were statistically different among groups. The lower intake of vitamin D was associated with a greater risk of T2D. Higher vitamin A and sodium intake were associated with poor glucose homeostasis, although protein intake may improve it. In perspective, nutrigenomic studies can provide insight into problematic diets and poor eating habits and offer opportunities to analyze the effects of behavioral changes that can mitigate T2D development and progression.
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Diabetes Mellitus Tipo 2 , Micronutrientes , Estudios Transversales , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/etiología , Ingestión de Alimentos , Glucosa , Homeostasis , Humanos , Estudios Prospectivos , VitaminasRESUMEN
BACKGROUND: Variants in the Hepatocyte Nuclear Factor 1 Alpha gene (HNF1A) are associated with lipoproteins levels and type 2 diabetes. In this study, we aimed to assess the association of HNF1A gene and haplotypes with the metabolic syndrome (MetS) and its components through an association study in the Tunisian population as well as by a meta-analysis. METHODS: A total of 594 Tunisian individuals were genotyped for three variants (rs1169288, rs2464196 and rs735396) located in HNF1A gene using KASPar technology. Statistical analyses were performed with R software. The association was furthermore evaluated through a meta-analysis of our results with those obtained in a Moroccan population. RESULTS: Our results showed no association between HNF1A variants and MetS in the Tunisian population. However, a significant association was observed between the variant rs735396 and a higher waist circumference. The stratified analysis according to the sex highlighted a significant association between the variant rs1169288 and high cholesterol levels only in women. Similarly, Haplotype analysis showed an association between the HNF1A minor haplotype and high total cholesterol mainly in women. Finally, our meta-analysis showed no association between HNF1A variants and MetS. CONCLUSIONS: Our findings exclude the involvement of the three HNF1A variants rs1169288, rs2464196 and rs735396 in the susceptibility to MetS in our studied Tunisian population but emphasize the role of these variants in the cholesterol homeostasis with sex-specific differences, which may serve to rise clinical consideration to early statin therapy in women carrying these genetic variants.
RESUMEN
During the month of Ramadan, over one billion Muslims observe a water and food fast from sunrise to sunset. The practice of this religious duty causes marked changes in eating and sleeping habits. With the increasing incidence of cardiovascular (CV) risk factors, the number of patients with CV pathologies who wish to fast is increasing worldwide, and in Tunisia, which is ranked as a high CV risk country. If fasting has been shown to be beneficial for the improvement of some metabolic parameters, its practice in patients with CV pathology remains debated. The Tunisian Society of Cardiology and Cardiovascular Surgery (STCCCV) in consultation with the National Instance of Evaluation and Accreditation in Health (INEAS) has established this document in the form of a consensus after having analysed the literature with the aim of addressing these questions: -What is the impact of fasting in patients with CV pathologies? -How to stratify the risk of fasting according to CV pathology and comorbidities? -How to plan fasting in patients with CV diseases? -What are the hygienic and dietary measures to be recommended during fasting in patients with CV pathologies? -How to manage medication during the month of Ramadan in patients with CV diseases?