Sickle cell disease has a great variability of clinical and biological expression that depends on modulatory and environmental genetic factors. This variability in clinical and biological expression encourages us to look for predictors of severity. Hemoglobin F and its genetic determinants are influencing prognostic factors. The objectives of this study were to: determine the prevalence of the Senegal haplotype in homozygous sickle cell patients, study the relationship between this haplotype and the hemoglobin F level and evaluate its influence on the complications of the disease. This is a cross-sectional prospective study that included 100 homozygous sickle cell patients aged over 15 years. A questionnaire was used to collect epidemiological, clinical and biological variables. The hemoglobin F level was measured by capillary method and the analysis of point mutations by restriction fragment length polymorphism (RFLP). These data were collected and analyzed with the software Epi-info 7.2. A value p ≤ 0.05 was considered significant. The Senegal haplotype was found in 90% of patients, of whom 58% were homozygous for this mutation and 32% were heterozygous. The hemoglobin F level averaged 9.5% ± 8.3% and correlated statistically significantly with the allelic frequency. However, only bilary lithiasis correlated with the Senegal haplotype (p <0.005). This study confirms the homogeneity of the Senegal haplotype in the Senegalese sickle cell population and its influence on the synthesis of hemoglobin F. On the other hand, it revealed the existence of a relationship between the Senegal haplotype and bilary lithiasis suggesting the role of this haplotype in the protection against polymerization and hemolysis globally.
The objective of this study was to assess the association between uric acid and the metabolic syndrome and its components in homozygous sickle cell patients. This is a prospective case/control study of sickle cell SS patients. Each patient was matched to a control of the same sex and age ± 2 years. In our framework, we used the criteria for defining metabolic syndrome according to International Diabetes Federation (IDF) 2009. Assay of all biological parameters was performed with the ARCHITECT ci4100, Abbot (Chicago, Illinois, USA). Data were collected with Excel 2016 software and statistical analysis was done using XLSTAT 2019 software. Student's T test was used to compare means and a p-value less than 0.05 was considered significant. The study population consisted of 100 homozygous sickle cell patients with an average age of 26 years with a sex ratio of 0.58. The prevalence of metabolic syndrome in our population according to the IDF 2009 was 2%. In our study 28% of patients presented with hyperuricemia. Uricaemia was significantly elevated in patients with components of the metabolic syndrome, in particular in 33% of patients with a large waist circumference, in 25% of hypertensive patients, in 50% of patients with hypertriglyceridemia and in 60% of patients with hypertriglyceridemia and low HDL-cholesterol levels. Significant correlations were found between uricemia and certain components of the metabolic syndrome, in particular the level of triglycerides (r = 0.
Sickle cell anemia (SCA) is caused by a single point variation in the β-globin gene (HBB): c.20A> T (p.Glu7Val), in homozygous state. SCA is characterized by sickling of red blood cells in small blood vessels which leads to a range of multiorgan complications, including kidney dysfunction. This case-control study aims at identifying sickle cell nephropathy biomarkers in a group of patients living with SCA from Senegal. A total of 163 patients living with SCA and 177 ethnic matched controls were investigated. Biological phenotyping included evaluation of glycemia, glucosuria, albuminuria, proteinuria, tubular proteinuria, serum creatinine, urine creatinine, urine specific gravity and glomerular filtration rate. Descriptive statistics of biomarkers were performed using the χ2 –test, with the significance level set at p<0.05. Patients living with SCA had a median age of 20 years (range 4 to 57) with a female sex frequency of 53.21%. The median age of the control participants was 29 years (range: 4–77) with a female sex frequency of 66.09%. The following proportions of abnormal biological indices were observed in SCA patients versus (vs.) controls, as follows: hyposthenuria: 35.3%vs.5.2% (p<0.001); glomerular hyperfiltration: 47.66%vs.19.75% (p<0.001), renal insufficiency: 5.47%vs.3.82% (p = 0.182); microalbuminuria: 42.38%vs.5.78% (p<0.001); proteinuria: 39.33%vs.4.62% (p<0.001); tubular proteinuria: 40.97%vs.4.73% (p<0.001) and microglucosuria: 22.5%vs.5.1% (p<0.001). This study shows a relatively high proportion of SCA nephropathy among patients living with SCA in Senegal. Microglucosuria, proteinuria, tubular proteinuria, microalbuminuria, hyposthenuria and glomerular hyperfiltration are the most prevalent biomarkers of nephropathy in this group of Senegalese patients with SCA.
Aims: The objective of our study was to evaluate the lipid profile and the plasma atherogenicity index obtained from the log (TG / HDL-c) in diabetics patients. Study Design: This is a comparative and analytical study. Place and Duration of Study: Sample: MARC SANKALE Centre at the Abass Ndao Hospital in Dakar (Senegal), CHNU/Fann Biochemistry Laboratory, from June 2018 to November 2019. Controls: For each patient, a witness of the same sex and the same age ± 2 years was recruited. Methodology: The lipid balance parameters were assayed using enzymatic techniques with the Cobas c311 system (Roche Diagnostics, Switzerland). Plasma atherogenicity indices for each patient were calculated (CT / HDL-c, LDL / HDL-c and Log (TG / HDL-c)). Data analysis was performed using XLSTAT software and a p value <0.05 was considered to be a statistically significant difference. Results: Our study concerned 100 subjects with type 2 diabetes. The average age was 50.5 ± 10.80 years old and the sex ratio was 0.58. Evaluation of lipid parameters had shown an increase in diabetic subjects compared to controls for total cholesterol (2.30 g / l) and LDL-cholesterol (1.40 g / l) with significant differences (p < 0.001). We also found that 11% of patients had a CT / HDL-c ratio > 4.5, while 8% had an LDL-c / HDL-c ratio > 3.5 and 26% of patients had a log (Tg / HDL- c) > 0.21. Conclusion: Lipid disturbances constitute significant abnormalities in type 2 diabetic subjects and would predispose them to cardiovascular complications. However, IAP = log (TG / HDL-c) could be considered the most sensitive predictor of cardiovascular risk.
The association between hyperuricemia and metabolic syndrome (MS) has been reported in many studies. The authors performed this cross-sectional study to determine the association between hyperuricemia and the MS among diabetic patients in Dakar. Type 2 diabetic patients received as part of their follow-up at the Marc Sankalé Center of Abass Ndao Hospital in Dakar were enrolled. For each patient, blood samples and 24 h urine collection were performed. Hyperuricemia was defined for uric acid concentrations > 416 µmol/l in men and > 357 µmol/l in women and the MS was evaluated according to WHO criteria. Statistical analysis was done using the XLSTAT 2019 software. A total of 153 type 2 diabetic patients were included with an average age of 56.63 years. Thirty-one percent (31%) of patients had metabolic syndrome and 32% of them had hyperuricemia. Significant correlations were found between serum uric acid and some components of the MS including triglyceride levels (r = 0.25, p = 0.002), microalbuminuria (r = 0.19, p = 0.018), and fasting glucose (r = -0.22, p = 0.005). The authors found that hyperuricemia is frequent in patients with MS and this could be considered as a biomarker associated with the presence of this syndrome.
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