Search

Nephrotic syndrome is the most prevalent glomerular disease in childhood. This study illustrates distribution of the most common three multidrug resistance gene 1 MDR1 (ABCB1) exonic polymorphisms G3435C, G2677 T/A, and C1236T in children with NS to assess their ability to be used as markers for response of NS to steroids. This study aimed to find association between ABCB1 gene polymorphisms and haplotypes and NS and if they can affect their response to steroids. ABCB1 gene polymorphisms in our cases were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Our cases were divided into three groups: one group included 50 steroid sensitive nephrotic syndrome (SSNS) patients, another group included 100 steroid resistant nephrotic syndrome (SRNS) patients, and the third group for 100 age and sex-matched children (control group). ABCB1 C3435T TT, CT + TT genotypes, T allele; ABCB1 G2677A/T GT + GA, TT + AA, GT + GA + TT + AA genotypes, T + A allele frequencies were significantly higher in patients with NS compared to control group. Also, SRNS group showed significantly more frequencies of ABCB1 G2677A/T GT + GA, TT + AA, GT + GA + TT + AA genotypes, T + A allele than SSNS group. TTT + TAT, TTC + TAC haplotype of ABCB1 was also higher in NS patients compared to healthy control subjects. We found that the associations of ABCB1 G2677T/A and C3435T polymorphisms were observed in patients with NS. The ABCB1 G2677 T/A polymorphism was significantly increased in SRNS when compared to SSNS.

Diabetes mellitus (DM) is an inherited disease, which can affect every organ in the body. 8-hydroxydeoxyguanosine (8-OHdG) is a biomarker for oxidative DNA damage. Occurrence of C-106T polymorphism of the aldose reductase (ALR) gene in type II diabetic patients suffering from diabetic microvascular complications has been reported. The aim of the present work was to assess the association between oxidative stress and C(-106)T ALR gene polymorphism and the incident of type 2 diabetes (T2D) and its complications. The current study was conducted on 200 subjects classified into 150 T2D patients and 50 healthy control subjects. Quantitative determination of human 8-OHdG was done using enzyme-linked immunosorbent assay (ELISA) technique. ALR C(-106)T polymorphism was assessed by PCR/RFLP method. Levels of 8-OHdG were significantly increased in diabetic patients when compared to control subjects and in diabetic patients with complications when compared to those without complications (P

Cytokines play a main role as progressive factors in nephrotic syndrome (NS). Tumor necrosis factor alpha (TNFα) produced by activated macrophages is often accompanied by pro inflammatory properties. Some cytokine gene polymorphisms like TNFα have associated with various inflammatory diseases as glomerulonephritis. The aim of the current work was to investigate the serum level of TNFα and the association between TNFα G308A polymorphism and the response to steroid therapy in nephrotic syndrome. This study was conducted on 250 subjects, 100 healthy children, 50 steroid sensitive nephrotic syndrome (SSNS), and 100 steroid resistant nephrotic syndrome patients (SRNS). Serum concentration of TNFα was measured by enzyme-linked immunosorbent assay (ELISA) technique and TNFα-G308A gene polymorphism was estimated by polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Serum concentrations of TNFα significantly increased in SRNS cases when compared to SSNS subgroups. TNF GA, AA, GA + AA genotypes and A allele showed significant association with risk of NS development within healthy control subjects. TNFα-G308A genotypes and alleles did not differ significantly between SSNS and SRNS groups.

Thyroid hormones affect the development and physiology of the kidneys. Hypothyroidism and hyperthyroidism affect glomerular filtration rate (GFR), tubular function, renal blood flow, and structure of the kidney. Cystatin C is a non-glycosylated neuroendocrine protein. It is freely filtered at the glomerulus and completely reabsorbed and catabolized by cells of tubules. Cystatin C levels, affected by the thyroid state, is being increased in hyperthyroidism and decreased in hypothyroidism. The current study was conducted on 66 patients of thyroid disorder and 21 healthy control subjects. Total T3, total T4, and TSH were measured by cobas e 411. Human Cystatin C was measured using ELISA kit based on sandwich enzyme-linked immunosorbent assay. Cystatin C was significantly increased in both total hyperthyroid and clinical hyperthyroid groups as compared to control (p

Aim of the study: Breast cancer is the most common cause of death in women. Obesity has been associated with increased risk of breast cancer in post-menopausal women. It induces chronic inflammation, which increases local and systemic levels of cytokines and adipokines such as leptin. Leptin (LEP) and leptin receptor (LEPR) genes have several polymorphisms in humans. This study aims to assess the association between blood levels of leptin and LEPR Q223R gene polymorphism in patients of cancer breast. Material and methods : The current study was carried on 48 female breast cancer patients and 48 heathy female subjects. Carcinoembryonic antigen (CEA), cancer antibody CA15-3, and leptin hormone were determined. Single nucleotide polymorphism of LEPR Q223R was assessed by PCR/RFLP. Statistical analysis used: The statistical analysis of data was done by using SPSS version 20. Results : There were significant increases in the concentrations of CEA (p = 0.004), CA15-3 (p < 0.001), and leptin hormone (p < 0.001) in BC patients in relation to the respective concentrations in control subjects. CEA and CA 15-3 showed significant differences between various BC stages. As regard to LEPR Q223R gene polymorphism, AA genotype showed significantly higher frequency in BC patients when compared to their respective controls, with higher risk to develop BC. Conclusions : Leptin hormone shows significantly higher concentrations in BC patients. As regard to LEPR Q223R gene polymorphism, AA genotype showed significantly higher frequency in BC patients.

Breast cancer (BC) is a common cancer among women, especially in developing countries. Circulating serum 25-hydroxyvitamin D [25(OH)D] is the key factor that regulates tissue synthesis of the active form 1,25-dihydroxyvitamin D [1,25(OH)2D]. 1,25(OH)2D has anticarcinogenic properties against breast cancer via binding to vitamin D receptors (VDRs). One of the common VDRs gene polymorphism which is located at the 3′ end of VDR gene is the Bsm-I gene polymorphism (rs1544410). Certain VDRs polymorphisms are associated with obesity and show relation to breast cancer risk. The current study was conducted on 60 breast cancer females and 30 healthy control subjects of matched age. Total serum 25(OH) vitamin D was measured using enzyme-linked immunosorbent assay (ELISA) technique. Vitamin D receptor VDR–Bsm1 gene polymorphism was assessed by PCR/RFLP method. Levels of 25(OH) vitamin D were significantly decreased in total, overweight, and obese BC patients in comparison to control group (p = 0.002

It has been suggested that insulin resistance may play a role in pathogenesis of NASH, with hepatocyte apoptosis believed to be the main factor involved in disease progression from simple steatosis to NASH. During apoptosis, cytokeratin-18 (CK-18) is cleaved by caspases and released into serum, a finding that was shown to correlate with the existence of inflammation and fibrosis in patients with NASH. The present study aims to differentiate patients with simple steatosis from those with NASH using CK-18 assessment both in liver tissue and in serum. The present study was conducted on two groups of patients, the first including 44 patients with simple steatosis and the second comprising 106 patients with steatohepatitis. Serum fasting insulin was measured and serum CK-18 was estimated. No significant differences were found between steatohepatitis patients and patients with simple steatosis regarding fasting insulin levels, or HOMA-IR index (P > 0.05 for each). Comparison of serum CK-18 levels between simple and advanced fatty liver patients showed significantly higher concentrations in patients with steatohepatitis than in patients with simple steatosis (P < 0.001). Serum level of CK-18 demonstrated a satisfactory relationship with all pathological variables that allowed differentiation between both entities of nonalcoholic fatty liver disease.

Extremely poor prognosis in hepatocellular carcinoma (HCC) patients with progressing disease was denoted by vascular invasion. Cytokeratin 18 (CK18) has been shown to be overexpressed in hepatocellular carcinoma so it is a valuable tumor marker; however, its role in vascular invasion is still unclear. This study aimed to predict CK18 as a predictive marker for macrovascular malignant invasion. The present study was conducted on three groups of patients: group I included 91 HCC patients without macrovascular invasion, group II included 34 HCC patients with radiological evidence of vascular invasion, and group III included 110 control individuals subdivided into IIIA as healthy blood donors and IIIB as post-HCV cirrhotic patients without HCC. ROC curve of M30 fragments of CK18 was constructed for discrimination between HCC with and without macrovascular invasion. Optimum cutoff value was 304.5 ng/mL (AUC = 0.997, P

Protozoal diseases are prevalent globally and especially in developing countries that have relatively lower socioeconomic populations such as Egypt. Direct microscopic examination (DME) is used for the detection and identification of protozoa but lacks sufficient reliability, and thus may be detrimental in obtaining accurate diagnostic or epidemiological data. In this study, we determine the prevalence of infections by Giardia intestinalis, Cryptosporidium sp., and Entamoeba histolytica in humans in Egypt. Furthermore, we determine the reliability of DME in determining infections caused by these protozoa and compare the results to enzyme linked Immunosorbent assays (ELISA). Our results indicate that the prevalence of giardiasis, cryptosporidiosis, and entamoebiasis is 38, 22, and 16 %, respectively. The sensitivity and specificity of DME for detection of G. intestinalis is 45 and 99 %, for Cryptosporidium 66 and 99 %, and for Entamoeba 45 and 100 %, respectively. Our findings demonstrate that ELISA is more reliable for diagnostic and epidemiologic study purposes.

Interleukin (IL)-27 has been reported to possess anti- and proinflammatory properties in several immune related-disorders, but its role in diabetic retinopathy is still elusive. Here, we aimed to (i) evaluate IL-27 concentrations in serum and aqueous humor of diabetic patients with or without retinopathy and (ii) test whether IL-27 is correlated with some risk factors of diabetic retinopathy. The study comprised 60 diabetic patients with and without retinopathy along with 20 healthy controls. Serum and aqueous humor concentrations of IL-27 were assessed by ELISA. The mean of IL-27 concentration in aqueous humor in patients with diabetic retinopathy (6.7 ± 2.7 ng/L) was significantly elevated in comparison with either diabetic patients without retinopathy (4.6 ± 0.5 ng/L) or healthy control group (4.1 ± 0.8 ng/L). Besides, IL-27 concentration in aqueous humor was positively correlated with serum glucose, lipid profile and glycated hemoglobin (HbA1c). Based on this study, IL-27 is implicated in the pathogenesis of diabetic retinopathy and positively correlates with the disorder progression.

Background: Features of hormone disturbances in patients suffering from chronic hepatic failure have been documented for many years. Objective: To evaluate the possible diagnostic and prognostic values of cortisol, total T3, thyroid-stimulating hormone (TSH) and prolactin concentrations in cirrhotic patients for prediction of hepatic encephalopathy (HE) and severity of hepatic diseases. Materials and methods: Study was carried out on 75 (40 males, 35 females) cirrhotic patients (HCV positive) with HE and 50 (28 males, 22 females) cirrhotic patients without HE (HCV positive). Patients underwent clinical evaluation with determination of the degree of HE. The severity of cirrhosis was assessed according to Child-Pugh classification. Immulite 1000 chemiluminescent immunometric assay was used for determination of cortisol, total T3, TSH and prolactin. Results: Cortisol, total T3 concentrations were significantly decreased in cirrhotic patients with HE compared to those without HE. Cutoff value for cortisol was less than 18.3 mg/dl could predict HE in cirrhotic patients according to AUROC curve showing a sensitivity of 52% and a specificity of 61%. Cutoff value for total T3 of less than 45.5 ng/dl could predict HE in cirrhotic patients showing a sensitivity of 64% and a specificity of 80.6%. Whereas prolactin concentration in cirrhotic patients with HE was significantly increased compared to patients without HE and its cutoff value was more than 18.85 ng/dl could predict HE in cirrhotic patients showing a sensitivity of 88% and a specificity of 90.3%. TSH concentration showed no significant difference in patients with HE vs patients without HE. Conclusion: Hormonal abnormalities of cortisol, total T3 and prolactin may represent risk factors and early indicators of impending hepatic encephalopathy and progression of liver disease severity.

Background Obesity is a major worldwide health problem. It is commonly observed in Down syndrome individuals than in the general population. The reason for increased risk of obesity in DS is unclear. The current study was designed to clarify differences in some obesity- related hormones in a group of prepubertal Down syndrome children. Methods Thirty six Egyptian children with Down syndrome were enrolled in this study, divided according to their body mass index (BMI) into 23 obese and13 non obese. Another group of 43 non Down children were recruited, they were divided according to their BMI into 20 patients having simple obesity and 23 non obese, as control groups. Fasting blood samples were collected for estimation of fasting blood glucose (FBG), insulin, leptin, free thyroxin (FT4), thyroid stimulating hormones (TSH) and creatine kinase (CK). Insulin resistance was assessed by Homeostasis Model Assessment method (HOMA-IR). The ratio of leptin to BMI (LEP/BMI) was used as an index of leptin resistance. Results Median values of FBG, insulin, and HOMA-IR were significantly higher in Down versus non Down groups, while median values of leptin and leptin resistance were non-significantly different among Down versus non Down groups. Median TSH values were non- significantly different between obese Down and obese non Down. Although the median values of TSH and FT4 were within normal range in Down groups, four cases of subclinical hypothyroidism were encountered. Leptin levels were correlated with insulin and IR but not with TSH in Down groups. Conclusion Increased circulating leptin, a marker of leptin resistance in obese children with Down syndrome seems to be similar to that in children with simple obesity. Elevated FBG and insulin in obese Down children highlights the presence of early IR. Associated myopathy evidenced by mildly elevated CK levels could be an added factor for obesity in such group of patients.