Egyptian Journal of Medical Human Genetics 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations
Publication date: Available online 16 June 2016 Source:Egyptian Journal of Medical Human Genetics Author(s): Joseph Foster, Mustafa Tekin Despite the risk of permanent ototoxic effects, aminoglycosides remain commonly utilized antibiotics worldwide due to low cost and efficiency in treating severe infections. Over the last two decades, mitochondrial mutations have been shown to enhance the likelihood of ototoxic injury. In particular the 1555A>G mutation in the mitochondrial gene MTRNR1 has been strongly associated with the onset of aminoglycoside-induced deafness; though pinning down the exact mechanism of ...
Source: Egyptian Journal of Medical Human Genetics - June 16, 2016 Category: Genetics & Stem Cells Source Type: research
Cytogenetical analysis in blood lymphocytes of cigarette smokers in Tiruchirappalli district, Tamil Nadu, India
Conclusion The frequencies of MN in buccal epithelial and blood lymphocytes are high in smokers; particularly heavy smoker group showed significantly increased results. Among them, the lymphocytic cells showed high MN frequency. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - June 16, 2016 Category: Genetics & Stem Cells Source Type: research
Association between interleukin-4 (IL-4), gene polymorphisms (C-589T, T+2979G, and C-33T) and migraine susceptibility in Iranian population: A case–control study
Publication date: Available online 10 June 2016 Source:Egyptian Journal of Medical Human Genetics Author(s): Nourollah Ramroodi, Mohammad Reza Javan, Nima Sanadgol, Mehdi Jahantigh, Tooba Nakhzari Khodakheir, Nasrin Ranjbar Background Migraine is a chronic neurological disease characterized by recurrent moderate to severe headaches commonly in association with neuro-inflammation. Interleukin-4 (IL-4), an anti-inflammatory cytokine, plays an important role in modulating pain threshold and has an essential role in stimulation of pain receptors in the trigeminal nerve fibers. Aim of the study The current stu...
Source: Egyptian Journal of Medical Human Genetics - June 10, 2016 Category: Genetics & Stem Cells Source Type: research
Circulating MiRNA-21 and programed cell death (PDCD) 4 gene expression in hepatocellular carcinoma (HCC) in Egyptian patients
Conclusion Circulating miRNA-21 could be a novel early diagnostic and prognostic biomarker for detection of HCC. Approaches interfering with the miRNA-21/PDCD4-axis, or releasing PDCD4 expression, may have a strong basis for therapeutic uses in cancer in the future. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - June 6, 2016 Category: Genetics & Stem Cells Source Type: research
Determination of DNA profiling of siwak and toothbrush samples used in Kingdom of Saudi Arabia
Conclusion Siwak contains enough quantity of DNA, and retained good DNA profiling; and when compared to toothbrushes, siwak is a reasonable source of DNA profiling when found at the scene of crime. In addition, time of storage up to 4months had no or little effects on results. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - June 1, 2016 Category: Genetics & Stem Cells Source Type: research
A retrospective study on fourteen year hemoglobin genotype variants recorded at five government hospitals in Akure, Ondo State, Southwestern Nigeria
This study analyzed fourteen year (2000–2013) hemoglobin (Hb) genotypes records from five state government hospitals in Akure, Ondo State, Southwestern, Nigeria. In the fourteen year record, a total of 56,218 hemoglobin genotypes were subjected to analyses in terms of a variety of hemoglobin genotypes and their prevalence in the area. The gene frequency was also calculated for this trait among the residents in Akure metropolis. Results and conclusion Six hemoglobin genotypes were identified as HbAA, HbAS, HbAC, HbSS, HbSC and HbCC. The overall average values of their prevalence in decreasing order were HbAA (88.11%)&am...
Source: Egyptian Journal of Medical Human Genetics - May 26, 2016 Category: Genetics & Stem Cells Source Type: research
Role of TLR4 gene polymorphisms in the colorectal cancer risk modulation in ethnic Kashmiri population – A case–control study
Conclusion Our results suggest that TLR4 gene polymorphism is not a key modulator of the risk of developing colorectal cancer in Kashmiri population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 26, 2016 Category: Genetics & Stem Cells Source Type: research
Risk factors for congenital anomalies in high risk pregnant women: A large study from South India
Conclusion High prevalence of CAs was found in HRP women compared to general population. Low parental age contributed toward CAs in primi gravida women while consanguinity was found to be a predisposing factor for CAs in HRP with previous BOH. Toxoplasmosis conferred risk for CAs in HRP women with previous normal pregnancies. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 14, 2016 Category: Genetics & Stem Cells Source Type: research
Magnesium, zinc and copper estimation in children with attention deficit hyperactivity disorder (ADHD)
Conclusion Children with ADHD have lower levels of zinc, copper and magnesium compared to both laboratory reference ranges and to normal controls in both hair and serum. These deficiencies are correlated with the core symptoms of ADHD. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 14, 2016 Category: Genetics & Stem Cells Source Type: research
Null association of maternal MTHFR A1298C polymorphism with Down syndrome pregnancy: An updated meta-analysis
Conclusion Subgroup and sensitivity analysis results showed that this polymorphism is a risk factor for DS pregnancy in Asian populations but not in Caucasian population as well as in overall meta-analysis. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 14, 2016 Category: Genetics & Stem Cells Source Type: research
A prospective longitudinal study to estimate the prevalence of obesity in Egyptian children with nocturnal enuresis and the association between body mass index and response to therapy
Conclusions Obesity correlates with high BMI in lower socioeconomic classes, but does not correlate with efficacy of the treatment in children with nocturnal enuresis. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 13, 2016 Category: Genetics & Stem Cells Source Type: research
The association of single nucleotide polymorphism of interleukin-21 gene and serum interleukin-21 levels with systemic lupus erythematosus
Conclusion IL-21 plays an important role in the immune-pathogenesis of SLE and could be used as a possible target for novel immunotherapy. The T allele of SNP rs2221903 suggests that the IL-21 gene may contribute to an inherited predisposition to SLE. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 7, 2016 Category: Genetics & Stem Cells Source Type: research
MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin
Conclusion Results from this study indicate that the MTRR C524T and A66G polymorphisms influence the risk of the occurrence of CHD in DS patients of Indian Origin. This is the first report from India highlighting the potential association of MTRR C524T and A66G polymorphisms with CHD in DS. We are also the first one to report two novel polymorphisms, T19775C and 19778_19778delG in DS with CHD group. Hence these four polymorphisms can be used to evaluate the risk of CHD in DS patients. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 4, 2016 Category: Genetics & Stem Cells Source Type: research
PPAR-γ and CYP46A1 genes polymorphism is associated with Primary Open Angle Glaucoma (POAG) in hypertensive North Indians
Conclusions CYP46A1 (rs754203) gene polymorphism was associated with POAG in both hypertensive and normotensive patients whereas, only GG genotype of PPAR-γ (rs10865710) SNP shows significant association with POAG in hypertensive POAG patients. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - April 30, 2016 Category: Genetics & Stem Cells Source Type: research
Genotypes of GSTM1 and GSTT1: Useful determinants for clinical outcome of bladder cancer in Pakistani population
Conclusion This study suggests that GSTM1 and GSTT1 gene polymorphisms may be associated with increased susceptibility toward bladder cancer in Pakistani population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - April 28, 2016 Category: Genetics & Stem Cells Source Type: research
