BackgroundLow bone mineral density (BMD) is a characteristic feature of Beta thalassemia major (βTM) patients. Vitamin D is important for bone mineralization. Vitamin D receptors (VDR) genetic variants may be related to vitamin D status and BMD.ObjectivesTo evaluate the effect of VDR genetic variants on vitamin D levels and BMD in βTM Egyptian patients supplemented with vitamin D.MethodsThis study was conducted on forty children with βTM and seventeen unrelated healthy sex and age-matched controls. Serum calcium, phosphorus, alkaline phosphatase, ferritin, and vitamin D were measured. VDR genetic variants (BsmI, TaqI, and FokI) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). BMD was measured by dual-energy X-ray densitometry (DEXA) of the lumbar spine.ResultsIn βTM patients, 22.5% had insufficient, and 77.5% had sufficient levels of vitamin D, and no cases had vitamin D deficient. BMD Z score was significantly lower in βTM patients compared to controls (p<0.001). Osteopenia and osteoporosis of lumbar spines were observed in 70% and 22.5% of βTM patients respectively. BsmI bb and FokI Ff and ff genotypic variants were significantly associated with lower vitamin D and BMD Z score. No association was observed with TaqI genotypic variants.ConclusionsLow BMD is prevalent in patients with βTM despite vitamin D supplementation. The BsmI bb, FokI Ff and ff genotypic variants of VDR can be considered as risk factors for the occurrence of osteoporosis in these children.
The continuous low dose (LD) isotretinoin is frequently used in the treatment regimen for acne vulgaris. However, data about its antimicrobial are lacking. The present study aimed to investigate dermcidin expression and the effects of low and conventional dose isotretinoin on its expression in acne vulgaris patients. Skin dermcidin expression was investigated in 30 patients with moderate–severe acne vulgaris and 15 healthy control subjects using ELISA. 15 patients were given continuous low‐dose isotretinoin (20 mg/day) and the other 15 given the conventional high dose (0.5 mg/kg/day). Skin biopsies were taken at the start of the study and 6 months later. Dermcidin was significantly lower in acne vulgaris patients (p < .001). Both isotretinoin regimens significantly raised dermcidin levels compared to pre‐treatment values (p < .001). Relapse after 12 months was not statistically different among the two isotretinoin regimens (p = .464). Pretreatment global acne grading system score of 28.6 ± 6.4 was reduced to 6 ± 6.1 following isotretinoin treatment (p < .001). Relapse was significantly related to posttreatment dermcidin levels (p = .017). Dermcidin expression is reduced in acne vulgaris. Conventional and LD isotretinoin regimens are associated with increased dermcidin expression.
Background: Variceal bleeding (VB), the most common lethal complication of cirrhosis, associated with high mortality. Timely prediction of esophageal varices (EV) represents a real challenge for the medical team. This study evaluated the level of plasma soluble CD 163 as a marker of the presence of EVs and to compare it with other noninvasive clinical, laboratory and ultrasonographic parameters as well as endoscopy. Methods: This prospective controlled study was conducted on 80 adults. Gp I had no oesophageal varices, gp II had small varices, gp IIIa had large varices, gp IIIb are the same patients of gp IIIa but after eradication of varices and gp IV as healthy controls. Serum samples were assayed for soluble CD 163. Results: soluble CD163 was statistically significant different between controls and all liver cirrhosis. it showed a statistically significant difference between group I and II (p = 0.009) and between group I and IIIa (p < 0.001) and between group II and IIIa (p < 0.001) but, no difference between group IIIa and IIIb (p = 0.179). Conclusion:Serum soluble CD163 is a good noninvasive predictor for the presence of EVs and it may be used for grading of EVs. Its level does not change after esophageal varices eradication.
MicroRNAs target mRNAs for cleavage or translational repression. They play a critical role in the progression of malignancies and leukemias including chronic lymphocytic leukemia (CLL). However, micro-RNA expression levels in Egyptian patients with CLL, and their prognostic value remain elusive. Our main aim was to assess the expression pattern of a panel of microRNAs in CLL patients to create an informative microRNA profile. The study subjects were 40 newly diagnosed CLL patients of both sexes and 40 age and sex matched controls. The expression levels of 12 microRNAs were evaluated by qRT-PCR, including miR-15a, 16, 23b, 24, 29a, 29c, 34a, 146a, 155, 181a, 195, and 221. Flow cytometry was used to determine the expression levels of BCL2, CD38, and ZAP-70 in CLL patients. We identified various degrees of upregulated miRNAs (miR-29a, miR-29c, miR-34a, miR-155, miR-146a, and miR-195) and down-regulated ones (miR-15a, miR-16, miR-23b, miR-24, miR-181a, and miR-221) in CLL patients relative to controls. The mean fluorescence intensity ratio (MFI-R) of BCL2 was recorded and was significantly upregulated in CLL patients compared with normal controls. In addition, inverse correlations were observed between microRNAs (miR-15a, miR-16, miR-155, and miR-195) and BCL2 MFI-R while positive correlations were observed between miR-29a and miR-29c, and BCL2 MFI-R. These findings suggest that these miR-NAs regulate BCL2 levels. Moreover, we found that miR-15a, miR-16, miR-155, miR-181a, miR-195 and miR-221 were significantly upregulated, while miR-29a and miR-29c were significantly downregulated in ZAP-70 positive CLL patients. Various miRNAs may play an important role in the pathogenesis of CLL and have the potential to be used for the prognosis of patients with CLL.
The T allele of heme oxygenase 1 gene SNP polymorphism (rs2071746) is a risk factor for esophageal varices development in cirrhotics.
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