Integrated whole exome and transcriptome sequencing in cholesterol metabolism in melanoma: systematic review

Background: Melanoma is a highly malignant form of skin cancer that exhibits remarkable metabolic adaptability. Melanoma cells exhibit the capacity to adapt to specific conditions of the tumor microenvironment through the utilization of diverse energy sources, thereby facilitating the growth and advancement of the tumor. One of the notable characteristics of metabolic reprogramming is the heightened rate of lipid synthesis. This review was conducted to illustrate how the integration of whole exom and transcriptome sequencing will enhance the detection of the effect of cholesterol metabolism in melanoma. Methods: The Cochrane database, Embase, PubMed, SCOPUS, Google Scholar, Ovid, and other databases were thoroughly searched for works addressing integrated whole exome and transcriptome sequencing in cholesterol metabolism in melanoma. Skin malignancy, melanoma progression, transcriptome sequencing, whole exome sequencing, transcriptome sequencing by RNA sequencing, and integrated transcriptome and whole exome sequencing were the key phrases employed. This article underwent a phased search for pertinent literature using a staged literature search methodology. Each section's relevant papers were identified and summarized independently. The results have been condensed and narratively given in the pertinent sections of this thorough assessment. Results: DNA-based analysis has proven to be ineffective in identifying numerous mutations that have an impact on splicing or gene expression. RNA-Sequencing, when combined with suitable bioinformatics, offers a reliable method for detecting supplementary mutations that aid in the genetic diagnosis of geno-dermatoses. Therefore, clinical RNA-Sequencing expands the scope of molecular diagnostics for rare genodermatoses, and it has the potential to serve as a dependable initial diagnostic method for expanding mutation databases in individuals with inheritable skin conditions. Conclusion: The integration of patient-specific tumor RNA-sequencing and tumor DNA whole-exome sequencing (WES) would potentially enhance mutation detection capabilities compared to relying solely on DNA-WES.

Association between serum lipid profile, body mass index and osteoporosis in postmenopausal Sudanese women

Background: Epidemiological observations suggest links between osteoporosis and the risk of acute cardiovascular events. Whether the two clinical conditions are linked by common pathogenic factors or atherosclerosis per se remains incompletely understood. The reduction of bone density and osteoporosis in postmenopausal women contributes to elevated lipid parameters and body mass index (BMI). Objective: To investigate the relationship between serum lipid profile, BMI and osteoporosis in postmenopausal women. Materials and Methods: A prospective analytical case control-study conducted in Khartoum north hospital at Khartoum city, capital of the Sudan from April 2017 to March 2018 after ethical approval obtained from the local Research Ethics Committee of Faculty of Medical Laboratories, Alzaeim Alazhary University on the committee meeting number (109) on Wednesday 15th February 2017. A written informed consent was obtained from all participants to participate in the study.Two hundred postmenopausal women were enrolled in the study. The age was studied in one hundred osteoporosis postmenopausal women as a case group and one hundred non-osteoporosis postmenopausal women as control group. The serum lipid profiles were estimated using spectrophotometers (Mandry) and BMI calculated using Quetelet index formula. The data were analysed using SPSS version 16. Results: The BMI, serum total cholesterol, triglyceride, HDL and LDL in case group respectively were (24.846±2.1647, 251.190±27.0135 mg/dl, 168.790 ±45.774 mg/dl, 50.620 ± 7.174 mg/dl, 166.868 ±28.978 mg/dl). While the BMI, serum total cholesterol, triglyceride, HDL and LDL in control group respectively were (25.378 ±3.8115, 187.990 ± 26.611 mg/dl, 139.360±20.290 mg/dl, 49.480 ±4.659 mg/dl, 111.667 ±28.0045 mg/dl). All serum lipid profiles significantly increased (p=0.000) in the case group compared to the control group, except serum HDL was insignificant different between the case and control group and also BMI was insignificant different between the case and control group. There was a positive Pearson's correlation between BMD and serum total cholesterol (r= 0.832, P<0.01), serum LDL (r = 0.782, P<0.01) and serum triglyceride (r = 0.72, P<0.01). Conclusions: Osteoporotic postmenopausal women had a significant increase in serum lipid profile and BMI. Moreover, we found a positive link between women with cardiovascular diseases and stroke

Evaluation of Iron Supplementation Effects on Plasma Lipid Levels in Pregnant Women

Backgrounds: Iron supplementation is most widely used approach of controlling the global problem of iron deficiency anemia especially in pregnant anemic women.Anemia is one of the most frequent complications related to pregnancy. Normal physiological changes in pregnancy affect the hemoglobin (Hb),Epidemiological studies have shown high serum iron concentrations following abnormal levels of blood lipids are risk factors for coronary artery disease and myocardial infarction.Both iron deficiency anemia and dyslipidaemia are widely prevalent public health problems, especially in the Sudanese pregnant women.Objectives: The aim of present study wasto measure the serum level of lipids profile in anemic pregnant women compared to non anemic pregnant women.Methodology and Study Population:The analytical case control study conducted inobstetrics and gynecology centre, Omdurman city, Khartoum state. One hundred subjects knownwith 50 pregnant anemic as case groups and 50 non anemic pregnant women as control groups were enrolled in this study, with match age and sex, the age ranged between (20 to 40 years) and their mean (31.7±4.34). The serum lipid profile was analyzed using spectrophotometric method. Results: The (mean±SD) ofHb, HDL, LDL, TG and TC in anemic pregnant women respectively were (68.15±9.35, 46.06±9.62, 114.14±36.86, 170.38±54.57. 197.16±46.83). While the(mean±SD) ofHb, HDL, LDL, TG and TC in non anemic pregnant women respectivelywere (79.76±7.22, 47.44±9.65, 140.00±40.76, 189.72±37.89, 224.38±45.09). The concentration of Hb was highly significantly decrease in anemic pregnant compare to non anemic pregnantwomen with p value(p=0.000). The level serum of LDL, TG andTC were significantly decrease in anemic pregnant compare to non anemic pregnant women with p value (p= 0.001, 0.042, 0.004) respectively. The age of study population were no correlation with serum LDL(r= -0.155, p= 0.283), HDL(r= -0.019, p=0.898) and TC(r=0.68, p=0.640). And also their positive correlation between age and serum TG (r= 0.286, P=0.044). Conclusion:The anemic pregnant women hadasignificantly decreased of Hb and serum LDL, TG and TC and also their positive correlation between age and serum TG