Association of HLA-DR2-Related Haplotype (HLA-DRB5*01-DRB1*1501-DQB1*0602) in Patients with Multiple Sclerosis in Khuzestan Province

  Abstract Objective Multiple sclerosis is a partially heritable autoimmune disease. HLA-DR2 is the largest identified genetic risk factor for MS. The largest identified genetic risk factor is haplotype from the MHC class II HLA-DR2 which increases risk of disease. The HLA-DR2 distribution in MS patients has been confirmed but contradictory outcomes have been found although its effect on ethnicity and gender is unclear. Since, there are no data regard to the association of HLA-DR2 (HLA-DRB1*1501-DRB5*01-DQB1*0602) with MS in Khuzestan, and because of ethnic diversity, investigating the association of HLA-DR2 with MS disability in both sex and ethnicity, was the aim of this study. Materials & Methods A total of 399 individuals were recruited in the study. HLA typing was conducted using the polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) technology. Moreover, HLA-DR2 association with MS was analyzed. Also, probable association with gender, ethnicity, EDSS, MS clinical course was examined by chi square test. Results HLA-DRB5*01--DQB1*0602- as the most common HLA haplotype was found in both patient and control groups. In contrast, DRB5*01+-DRB1*1501+-DQB1*0602- frequency was very low. It was observed that no haplotype has association with MS susceptibility. Interestingly, none of the haplotypes showed association with ethnicity, sex, EDSS and MS course except for HLA-DRB5*01+-DRB1*1501+-DQB1*0602- haplotype that was positively associated with EDSS steps 5 to 10 (p=0.014) and non-RRMS (p = 0.023). Conclusion There was no association between HLA-DR2 and MS susceptibility. However, the higher HLA-DRB5*01+-DRB1*1501+-DQB1*0602- frequency may play a role in MS development. Also, HLA-DR2 did not increase significantly concerning clinical course, ethnicity, sex, and EDSS. This study further supports the importance of replication studies as susceptible loci that might differ in various ethnicities. Therefore, it is concluded that the association between HLA-DR2 and MS is more allelic than haplotypic in Khuzesta

Ketogenic Diet Is Good for Aging-Related Sarcopenic Obesity

Sarcopenic obesity is a skeletal muscle weight loss disease. It has happened at an elderly age. A ketogenic diet is a low-carbohydrate (5%), moderate protein (15%), and a higher-fat diet (80%) can help sarcopenic obese patients burn their fat more effectively. It has many benefits for muscle and fat weight loss. A ketogenic diet can be especially useful for losing excess body fat without hunger and for improving type 2 diabetes. That is because of only a few carbohydrates in the diet, the liver converts fat into fatty acids and ketones. Ketone bodies can replace higher ATP energy. This diet forces the human body to burn fat. This is a good way to lose fat weight without restriction

Antiviral performance of graphene-based materials with emphasis on COVID-19: A review

Coronavirus disease-2019 has been one of the most challenging global epidemics of modern times with a large number of casualties combined with economic hardships across the world. Considering that there is still no definitive cure for the recent viral crisis, this article provides a review of nanomaterials with antiviral activity, with an emphasis on graphene and its derivatives, including graphene oxide, reduced graphene oxide and graphene quantum dots. The possible interactions between surfaces of such nanostructured materials with coronaviruses are discussed. The antiviral mechanisms of graphene materials can be related to events such as the inactivation of virus and/or the host cell receptor, electrostatic trapping and physico-chemical destruction of viral species. These effects can be enhanced by functionalization and/or decoration of carbons with species that enhances graphene-virus interactions. The low-cost and large-scale preparation of graphene materials with enhanced antiviral performances is an interesting research direction to be explored

REVIEW ON RECENT ADVANCES IN ENVIRONMENTAL REMEDIATION AND RELATED TOXICITY OF ENGINEERED NANOPARTICLES

Production and utilization of engineered nanoparticles (ENPs), which are smart materials with ability of sensing and destroying chemical contaminants, is growing rapidly. However, these materials seem to have some ecological and health adverse effects. Hence, the main goal of this review study is to give a brief description about the recent developments of the commercial available engineered nano particles in the environmental remediation and also to note the current state of findings about the toxic effects of such advanced materials. The key references revealed the potential in vitro and/or in vivo toxic effects of some ENPs which are commonly used in environmental remediation. However, with respect to highly potential physicochemical and biochemical properties of ENPs, the studies which have been carried out till now are not ample to obtain satisfactory exposure data for both human beings and the environment. Therefore, more surveys should be done in this field to fill the gap of high quality data and to develop new engineered nanoparticles with minimum toxicity

Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing.

Background Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints. Methods Among families who were referred to Narges Genetic and PND Laboratory in 2015-2017, five families with a history of blood diseases were analyzed using the whole exome sequencing (WES) method. Results We detected two novel mutations (c.190-2A>G and c.2840C>G) in the FANCA gene, c. 1429dupA mutation in the FANCC gene, and c.1392A>G mutation in the ITGA2B gene. The prediction of variant pathogenicity has been done using bioinformatics tools such as Mutation taster PhD-SNP and polyphen2 and were confirmed by Sanger sequencing. Conclusions WES could be as a precise tool for identifying the pathologic variants in affected patient and heterozygous carriers among families. This highly successful technique will remain at the forefront of platelet and blood genomic research

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L) syndrome. Then Sanger sequencing was used for the detected variant validation.  Results: We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in the patient and heterozygous genotype in her unaffected parents. Notably, bioinformatics analysis using mutation taster (prob>0.99) and DDIGin (prob=86.51) predicted this mutation as disease-causing. Also, the variant was not present in our database, including 700 exome files. Conclusion: These findings emphasize the pathogenicity of rs797045105 for MEGDEL syndrome. On the other hand, our data shed light on the significance of WES application as a genetic test to identify and characterize the comprehensive spectrum of genetic variation and classification for patients with neuro- metabolic disorders

Radiation Protection Knowledge, Attitude, and Practice (KAP) in Interventional Radiology

Objectives: Due to increasing cardiac disease and its mortality rate, the frequency of cardiac imaging has grown and, as a result, interventional cardiologists potentially receive high radiation doses in cardiac examinations. This study aimed to assess the knowledge, attitude, and practice (KAP) level of radiation protection (RP) among interventional radiology staff in Iranian health care centers across the country. Methods: We used a validated questionnaire survey consisting of 30 multiple-choice questions to perform a cross-sectional study. Participants were healthcare personnel working professionally with radiation at different levels (i.e., secretary, radiology technologists, nurse, and physician). The questionnaire was divided into three sections to assess KAP regarding RP. Results: Significant differences exist in RP KAP mean scores based on educational age (p 0.050). We found a significant difference between RP KAP mean scores and different regions (p < 0.050). Conclusions: Educational and practice age, sex, type of hospital, and geographical region affect he KAP of interventional radiology staff regarding RP. Since many of the subjective radiation harms for both medical team and patients, this can be easily controlled and prevented; a checkup for personnel of interventional radiology departments, considering samples from different parts of the country with different levels of education, continuous training, and practical courses may help map the status of KAP. The results of this study may also help authorized health physics officers design strategic plans to enhance the quality of such services in radiation departments

Putative founder effect of Arg338* AP4M1 ( SPG50 ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

info:eu-repo/semantics/inPres