Background: Neuroblastoma (NB) is remarkable for its wide spectrum of clinical behavior and biological characteristics in relation to outcome. The use of aggressive therapy, including autologous hematopoietic stem cell transplantation (HSCT) and the addition of isoretionin (cis-Retinoic Acid/cis-RA), has increased survival rates of patients with advanced disease. Methods: Pediatric 271 newly diagnosed high risk NB patients were prospectively enrolled into the study. Patients received neoadjuvant chemotherapy of alternating cycles: [cyclophosphamide, doxorubicin, vincristine (CAdO)] and [etoposide, carboplatin]. Intensification courses of "ICE" (ifosfamide, carboplatin, and etoposide) regimen were administered to patients with bone marrow (BM) residual infiltration. Whenever safely feasible, complete surgical resection or debulking of the primary tumor was attempted for patients achieving partial response. Eligible patients underwent HSCT, while radiation therapy to the primary and metastatic sites, as well as maintenance with cis-RA was given for 6 months. Results: The median age of our patients was 2.8 years with male to female ratio of 1.65:1. At 4 years, the overall and event free survivals were 33.7% and 23.3% for the entire group under study, with significantly higher rates (42.7% and 35.6%, respectively) for HSCT patients (n = 94; p < 0.001). The outcome was also significantly correlated with response to induction therapy, pathological subtype, as well as other variables. Conclusion: Myeloablative therapy followed by stem cell rescue is regarded as the most important goal of high risk NB treatment to improve survival till present. Each of consolidation HSCT, post induction disease status, as well as international neuroblastoma pathology classification (INPC) subtype was an independent predictive variable of survival. A collaborative effort with an emphasis on biologic characteristics of aggressive disease and tailored therapy needs to be strengthened to further our understanding of this disease.
Background: Recently, numerous studies have associated polymorphisms in 11beta-hydroxysteroid dehydrogenase type 1 (HSD11β1) gene and T2DM risk. However, there is still a lack in the published literature evaluating the association between HSD11β1gene polymorphism and the risk of T2DM. Objective: The Aim of the study was to assess the association of HSD11β1gene polymorphism (rs846910) with Type 2 diabetes mellitus (T2DM) in a sample of the Egyptian population. Patients and methods: Our study was conducted on 100 subjects; their mean age was 50.26 ± 9.1 years old. They were selected from Diabetes Outpatient Clinics of our institution for 6 months in the period from June 2019 to December 2019. They were divided into two groups: 60 type 2 diabetic obese patients with BMI > 25 kg/m 2 (Group I) and 40 age-and sex-matched controls (Group II). Results: There was no statistically significant difference between cases and controls in terms of HSD11β1 polymorphism (rs846910). The regression analysis showed that the HSD11β1 polymorphism did not significantly increase the risk of diabetes mellitus (DM). Detection of HSD11β1 gene polymorphism in the study showed that homozygous GG genotype was more prevalent than GA genotype. However, there was no significant difference between GG and GA in terms of fasting and postprandial sugar and in terms of lipid profile. Conclusion:The present study showed no significant association between HSD11β1 polymorphism (rs846910) and T2DM. Moreover, the HSD11β1polymorphism (rs846910) is not correlated with glycemic status or lipid profile.
Hepatocellular carcinoma (HCC) is a highly prevalent malignancy. It is a common type of cancer in Egypt due to chronic virus C infection (HCV). Currently, the frequently used lab test is serum α-fetoprotein. However, its diagnostic value is challenging due to its low sensitivity and specificity. Genetic biomarkers have recently provided new insights for cancer diagnostics. Herein, we quantified Lnc HULC and miR-122 gene expression to test their potential in diagnosis. Both biomarkers were tested in the sera of 60 HCC patients and 60 with chronic HCV using real-time RT-PCR. miR-122 was highly expressed in HCV patients with a significant difference from the HCC group (p = 0.004), which points towards its role in prognosis value as a predictor of HCC in patients with chronic HCV. HULC was more highly expressed in HCC patients than in the HCV group (p = 0.018), indicating its potential use in screening and the early diagnosis of HCC. The receiver operating characteristic (ROC) curve analysis showed their reliable sensitivity and specificity. Our results reveal that miR-122 can act as a prognostic tool for patients with chronic HCV. Furthermore, it is an early predictor of HCC. LncRNA HULC can be used as an early diagnostic tool for HCC.
Background Type 2 diabetes mellitus is a heterogeneous group of metabolic disorders caused by the interaction between genetic predisposition and environmental factors. The incidence of type 2 diabetes mellitus has increased over the last decades with more than 170 million individuals suffering from type 2 diabetes mellitus all over the world which imposes a greater economic impact on individuals, families and health systems. Though the genetic susceptibility to type 2 diabetes mellitus is polygenic, single nucleotide polymorphisms (SNP) at Hydroxy steroid dehydrogenase (HSD11B1) gene have been strongly associated with type 2 diabetes risk in various populations and ethnic groups. Objectives The aim of this study is to assess the association of Hydroxy-Steroid-Dehydrogenase-11B1 gene (rs846910) with type 2 diabetes mellitus in a sample of Egyptian population. Patients and Methods In the present study, we included 60 diabetic obese patients and 40 age and sex-matched controls. The mean age of the included patients was 50.26 ±9.1 year; while the majority of them were females (70%). All the participating patients were subjected to detailed history and the following investigations: fasting blood sugar, post prandial sugar,HbA1c, and lipid profile. Detection of gene polymorphism by real time PCR was performed for all subjects in the study. Results The study showed that homozygous GG genotype was more prelevant than GA genotype. No significant difference between GG and GA in terms of fasting and postprandial sugar and in terms of lipid profile: cholesterol (p = 0.642), TG (p = 0.808), LDL (p = 0.238), and HDL (p = 0.945).It showed no statistically significant difference between cases and controls in terms of HSD11B1 polymorphism (rs846910). The regression analysis showed that the HSD11B1 polymorphism did not significantly increase the risk of diabetes mellitus (OR 1.724, 95% CI [0.601 – 4.94]). Conclusion In conclusion, multiple further studies involving other single nucleotide polymorphism of 11 beta hydroxysteroid dehydrogenase gene as well as other genes involved in type 2 diabetes mellitus and obesity need to be done.
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