Molecular detection of Shiga toxin-producing Escherichia coli (STEC) O157 in sheep,goats, cows and buffaloes

Molecular Biology Reports - Shiga toxin-producing E. coli (STEC) are important foodborne pathogens that causing serious public health consequences worldwide. The present study aimed to estimate the...     

Genetic variants in telomere-maintaining genes and skin cancer risk

Telomere-related genes play an important role in maintaining the integrity of the telomeric structure that protects chromosome ends, and telomere dysfunction may lead to tumorigenesis. We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case–control study of Caucasians nested within the Nurses’ Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls. Of the 39 SNPs evaluated, ten showed a nominal significant association with the risk of at least one type of skin cancer. After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk. The additive odds ratio (OR) [95% confidence interval (95% CI)] of these four SNPs (rs2853676[T], rs2242652[A], rs2981096[G], and rs401681[C]) for the risk of melanoma was 1.43 (1.14–1.81), 1.50 (1.14–1.98), 1.87 (1.19–2.91), and 0.73 (0.59–0.91), respectively. Moreover, we found that the rs401681[C] was associated with shorter relative telomere length (P for trend, 0.05). We did not observe significant associations for SCC or BCC risk. Our study provides evidence for the contribution of genetic variants in the telomere-maintaining genes to melanoma susceptibility.     

Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients

BackgroundBreast cancer is a multifactorial disease with the highest frequency in females. Genetic and environmental factors can cause mutation in several genes like tyrosine kinase, JAK2 gene which may initiate cancer. Molecular analysis of mutations in the JAK2 gene along with determination of environmental, clinical and haematological risk factors associated with breast cancer patients is need of hour to improve patient's healthcare. Somatic JAK2 valine-to-phenylalanine (617 codon) mutation is one of the widely prevalent mutations.MethodsBlood was collected from seventy breast cancer patients after their consent. The questionnaire included risk factors, age group, locality, number of children, tumor type, family history, time of initial diagnosis, no of cycles/month, water conditions and exposure to radiations. Molecular analysis were carried out from genomic DNA using Sanger sequencing and allele-specific PCR to check the V617F point mutation.ResultsThe breast cancer risk factors includes unfiltered water (68.57%), urban (58.57%), menopause (55.71%), family history of cancer (18.57%), tumor grades (II, 37.14% and III, 35.71%), consanguineous marriages (44.28%) and having more than 3–4 children (45.71%). Prevalence of breast cancer was higher after the age of 35 and maximum at 35–50. In allele-specific PCR of 70 patients, 25 patients were wild type (229 bp), 25 patients were with partially deleted gene (200 bp), and 20 patient had shown no or less than 40 bp size fragments. In Sanger's sequencing of 70 BC cases, 18% were found to be positive for V617F point mutation, including 6 homozygous (T/T) and 7 heterozygous (G/T) mutations at nucleotide position 1849 in exon 14 of the JAK2 gene.ConclusionsEnvironmental and clinical risk factors were associated with breast cancer which can be overcome by improving awareness of associated risks, health facilities and reducing stress.     

Exonuclease 1 (EXO1) gene variation and melanoma risk

ObjectiveDNA repair pathway genes play an important role in maintaining genomic integrity and protecting against cancer development. This study aimed to identify novel SNPs in the DNA repair-related genes associated with melanoma risk from a genome-wide association study (GWAS).MethodsA total of 8422 SNPs from the 165 DNA repair-related genes were extracted from a GWAS of melanoma risk, including 494 cases and 5628 controls from the Nurses’ Health Study (NHS) and the Health Professionals Follow-up Study (HPFS). We further replicated the top SNPs in a GWAS of melanoma risk from the MD Anderson Cancer Center (1804 cases and 1026 controls).ResultsA total of 3 SNPs with P value <0.001 were selected for in silico replication. One SNP was replicated: rs3902093 [A] in EXO1 promoter region (P_discovery = 6.6 × 10^?4, P_replication = 0.039, P_joint = 2.5 × 10^?4; OR_joint = 0.80, 95% CI: 0.71, 0.90). This SNP was associated with the expression of the EXO1; carriers of the A allele showed lower expression (P = 0.002).ConclusionOur study found that a promoter region SNP in the editing and processing nucleases gene EXO1 was associated with decreased expression of EXO1 and decreased melanoma risk. Further studies are warranted to validate this association and to investigate the potential mechanisms.     

Assessment of the role of general,biochemical and family history characteristics in kidney stone formation

Aim

The main objective of the study was to determine the urinary risk factors involved in kidney stone formation.

Method

In this study a total number of 101 patients (64 males and 37 females) between the age group 2 and 70 years were selected. Personal characteristics like age, family history, clinical sign and symptoms, education, monthly income, living style, smoking or tobacco chewing habit, dietary intake and daily amount of drinking water were recorded.

Results

The study showed that the risk of kidney stone formation was high in the median age group (16–25 years) both in male and female population. The most important factors associated with this were lack of drinking clean water, over weight and obesity as well as family history (37.5% and 27.02% in men and women, respectively).

Conclusion

Our study has confirmed that lack of drinking sufficient amount of water, increasing weight and obesity and family history are some major factors contributing to the increased risk of kidney stone formation. Therefore it is very important to live a healthy life, drink clean water and control weight to prevent such diseases.     

Risk assessment of heavy metal toxicity through contaminated vegetable from sewage water: Implications for populace health

The present investigation was carried out to evaluate the levels of metals and metalloids in okra (Abelmoschus esculentus) irrigated with city wastewater. Soil and vegetable samples from two different sites irrigated with wastewater were wet-digested and analyzed. Arsenic (As) was found higher at both sites and Cr was many-fold lower at both sampling sites. Among all heavy metals, Mn and Zn were abundant. Highest value of coefficient factor was found for Cr and the lowest for Cd. The high transfer value was recorded for Cu at site-I and for Ni at site-II. Copper and Se showed negative and significant correlations between soil and vegetable, whereas Mn, Zn, As, Cd, Cr, and Ni showed positive but non-significant correlations. Pollution load index in this vegetable was found to be higher for Cd and lower for Cu. Health risk index at site-I was in the order of As > Mn > Mo > Pb > Cd > Ni > Zn > Se > Fe > Co > Cr > Cu, whereas the same order was observed at site-II of the sampling locations. Thus, the health risks of metals through ingestion of vegetables were of great concern in the study area.     

Pericentriolar matrix (PCM) integrity relies on cenexin and polo-like kinase (PLK)1

Polo-like-kinase (PLK) 1 activity is associated with maintaining the functional and physical properties of the centrosome’s pericentriolar matrix (PCM). In this study, we use a multimodal approach of human cells (HeLa), zebrafish embryos, and phylogenic analysis to test the role of a PLK1 binding protein, cenexin, in regulating the PCM. Our studies identify that cenexin is required for tempering microtubule nucleation by maintaining PCM cohesion in a PLK1-dependent manner. PCM architecture in cenexin-depleted zebrafish embryos was rescued with wild-type human cenexin, but not with a C-terminal cenexin mutant (S796A) deficient in PLK1 binding. We propose a model where cenexin’s C terminus acts in a conserved manner in eukaryotes, excluding nematodes and arthropods, to sequester PLK1 that limits PCM substrate phosphorylation events required for PCM cohesion.     

Psychological impact and stress factors among Ha'il medical students post COVID19 pandemic

The current COVID-19 pandemic frightfully threatened the whole world, and people in different countries were demanded to be quarantined due to possible contact with the infection. High mortality rate, the spread of COVID19 and the propagation of fake news in social media programs created fear and anxiety among majority of society especially, medical students. One of the most essential changes during the covid-19 was the termination of teaching lectures in physical presence and its replacement by virtual online lectures. Circumstances like these have negative impact on the mental health of medical students. Therefore, it is of interest to investigate the impact of the COVID19 pandemic on medical students’ learning and the effect of distressing situation they experienced, psychological and educational variables specifically during return to physical attendance in college and the impact of these variables of probably affecting factors like age, gender, marital status, transition of preclinical years to clinical years. A Cross-sectional study was completed among medical students at UOH, KSA. The data are collected by distributing an online questionnaire. Statistical analysis has been done with Microsoft Power BI. 14.82% of 5th year female participants were unable to stop worrying for different things while 10.54% of male participant were in the 1st year. Large numbers of students who have increased the number of times they wash their hands are found in med3 and med4 while 27.92% agree and 29.05% strongly agree of whole years of study. 45.29% of students were having mental pressure before online session due to internet connection while 51.55% had decreased motivation since the shift to online learning. Data shows that highest numbers of participants who were having past illness and anxious were in age group 21-23 in both male and female. The majority of students was having fear toward returning in physical presence and preferred not to have on- college education. Hence, it is recommended to encourage students and reduce stress by providing with Personal Protective Equipment (PPE) course.     

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

We conducted a multi-stage genome-wide association study of natural hair color in more than 10,000 men and women of European ancestry from the United States and Australia. An initial analysis of 528,173 single nucleotide polymorphisms (SNPs) genotyped on 2,287 women identified IRF4 and SLC24A4 as loci highly associated with hair color, along with three other regions encompassing known pigmentation genes. We confirmed these associations in 7,028 individuals from three additional studies. Across these four studies, SLC24A4 rs12896399 and IRF4 rs12203592 showed strong associations with hair color, with p=6.0×10⁻⁶² and p=7.46×10⁻¹²⁷, respectively. The IRF4 SNP was also associated with skin color (p=6.2×10⁻¹⁴), eye color (p=6.1×10⁻¹³), and skin tanning response to sunlight (p=3.9×10⁻⁸⁹). A multivariable analysis pooling data from the initial GWAS and an additional 1,440 individuals suggested that the association between rs12203592 and hair color was independent of rs1540771, a SNP between the IRF4 and EXOC2 genes previously found to be associated with hair color. After adjustment for rs12203592, the association between rs1540771 and hair color was not significant (p=0.52). One variant in the MATP gene was associated with hair color. A variant in the HERC2 gene upstream of the OCA2 gene showed the strongest and independent association with hair color compared with other SNPs in this region, including three previously reported SNPs. The signals detected in a region around the MC1R gene were explained by MC1R red hair color alleles. Our results suggest that the IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation.