Egyptian Journal of Medical Human Genetics Egyptian Journal of Medical Human Genetics RSS feedThis 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.

MTHFR C677T polymorphism and risk of esophageal cancer: An updated meta-analysis
ConclusionIn conclusion, results of present meta-analysis showed significant association between MTHFR C677T polymorphism and esophageal cancer. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 5, 2018 Category: Genetics & Stem Cells Source Type: research

Removal notice to “An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings” [Egypt J Med Hum Genet 18 (2017) 393–396]
This article has been removed: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal).This article was removed at the request of the authors due to developments in the reported case. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 5, 2018 Category: Genetics & Stem Cells Source Type: research

Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion
ConclusionEarly diagnosis of hemochromatosis is important in terms of prognosis and morbidity. We aimed to emphasize that we can easily diagnose the disease by performing genetic analysis in cases with suspected hemochromatosis even they have no complaints. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - September 16, 2018 Category: Genetics & Stem Cells Source Type: research

Pathogenic predictions of non-synonymous variants and their impacts: A computational assessment of ARHGEF6 gene
ConclusionThese findings can be supportive of genotype-phenotype research as well as the development in pharmacogenetics studies. Finally, this study revealed a significance of computational methods to figure out highly pathogenic genomic variants linked with the structural and functional relationship of ARHGEF6 protein. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

Impact of PAI-1 4G/5G and C > G polymorphisms in acute ST elevation myocardial infarction and stable angina patients: A single center Egyptian study
ConclusionNo significant association between PAI-1 4G/5G and C > G polymorphisms and the risk of coronary artery disease or the activity level of PAI-1 among the studied Egyptian population sample. However, STEMI patients showed significant presence of combined mutant allele of both genes more frequently. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 13, 2018 Category: Genetics & Stem Cells Source Type: research

Pathophysiology of bleeding diathesis in haemophilia-A: A sequential and critical appraisal of non-FVIII related haemostatic dysfunctions and their therapeutic implications
This articles is aimed at providing a composite and comprehensive review of the roles of non-FVIII haemostatic defects and their therapeutic implications in haemophilic bleeding diathesis, which will enable a holistic approach towards clinical management of the bleeding diathesis. This is necessary because FVIII therapy alone maybe insufficient in managing complicated haemophilic bleeding unless compounding non-FVIII-related haemostatic dysfunctions and comorbidities are identified, targeted and treated. This will necessitate appropriate use of non-FVIII therapeutic modalities, which may include anti-fibrinolytic agents, F...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Cantu syndrome in an Egyptian child
We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, long philtrum, small low set ears, high arched palate, excess hair on the cheeks, short neck and excess hair over extremities and back. The patient had patent ductus arteriosus ligation, and mild pulmonary hypertension. Our patient has an affected mother which is consistent with autosomal dominant inheritance. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Detection of antimicrobial resistance genes of Helicobacter pylori strains to clarithromycin, metronidazole, amoxicillin and tetracycline among Egyptian patients
ConclusionData concerning antimicrobial resistance genes play an important role in empiric treatment of H. pylori infection. According to our results, H. pylori resistance to metronidazole and amoxicillin was relatively high. Clarithromycin is still a good option for first line anti-H. pylori treatment. Combined resistant strains are emerging and may have an effect on the combination therapy. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

New insights into smudge cell percentage in chronic lymphocytic Leukemia: A novel prognostic indicator of disease burden
Conclusionlow percentage of smudge cells (<30%) could be considered as an adverse prognostic predictor being associated with high risk markers in CLL. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Metadherin mRNA expression in hepatocellular carcinoma
ConclusionMTDH mRNA is up-regulated in serum of HCC patients; MTDH may be considered as non-invasive biomarker for HCC diagnosis and it could replace serum AFP in HCC diagnosis as it had higher accuracy. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Study of the role of IL-17F gene polymorphism in the development of immune thrombocytopenia among the Egyptian children
ConclusionOur study suggests that IL17F gene polymorphism at rs7488A/G may not contribute to the susceptibility in development of primary immune thrombocytopenia in the Egyptian children. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Renalase gene polymorphisms (rs2576178 and rs10887800) in Egyptian hypertensive end stage renal disease patients
ConclusionOur study revealed that the risk of developing end stage renal diseases was increased among carriers of AA genotype for the rs10887800 polymorphism and GG genotype for the rs2576178 polymorphism. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The cephalofacial characterization in humans: The study using igbo tribe in Nigeria
Conclusionthe study characterized anthropometrics of face and head of Igbos in the South-Eastern region of Nigeria. From this study, Igbo ethnic group fall under the platyrrhine type of nose. Igbo males and Igbo females are mesocephalic from this study. On the average from this work, the mean C.I. in the Igbo tribe belongs to mesocephalic or medium headed population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

In silico analysis of the functional non-synonymous single nucleotide polymorphisms in the human CYP27B1 gene
ConclusionThese nsSNPs could contribute to vitamin D deficiency and its associated pathological conditions. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

A study on the association of TCF7L2 rs11196205 (C/G) and CAPN10 rs3792267 (G/A) polymorphisms with type 2 diabetes mellitus in the South Western of Iran
ConclusionOur results showed that TCF7L2 rs11196205 and CAPN10 rs3792267 (SNP- 43) polymorphisms are not associated with the risk of T2DM in the studied population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research