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.

Association of nonalcoholic fatty liver disease grades with the plasma cell antigen-1 (PC-1) gene polymorphism
ConclusionLipid profile indices are risk factors for the incidence of NAFLD. Triacylglycerol (TAG) level is the hall-mark in the NAFLD pathogenesis and in the predisposition of PC-1 gene 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

No association between the SNP rs1625579 in miR-137 gene and schizophrenia in Iranian population
ConclusionThere was no significant relationship between rs1625579 and the incidence of schizophrenia. To the best of our knowledge, this is first study in Iran that assesses the frequency of the polymorphism among Iranian patients. However, further studies with more samples are necessary. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Determinants and modifiers of bleeding phenotypes in haemophilia-A: General and tropical perspectives
Publication date: July 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 3Author(s): Umma A. Ibrahim, Sagir G. AhmedAbstractHaemophilia-A is an X-linked recessive bleeding disorder characterized by deficiency of FVIII. Although severity of haemophilia is largely determined by the extent to which different mutations abolish FVIII production, the overall phenotypic variations among haemophiliacs is determined by a combination of several other factors, which range from general to tropical factors on the one hand, and from genetic to immunologic and infective factors on the other hand. Determinants and m...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Fuzzy system model for gene expression
ConclusionThe model for gene expression is obtained in terms of system of differential equations involving fuzzy initial values using geometric approach. The numerical results have been obtained for TJK16 strain of E.coli. The semi temporal concentrations profile of DNA, mRNA and protein are obtained and sensitivity analysis has been performed to study the variation in concentrations of DNA, mRNA and protein with respect to variation in transcription and translation rates. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Helicobacter pylori Western cagA genotype in Egyptian patients with upper gastrointestinal disease
ConclusionAbsence of the more virulent East Asian cagA genotype, which is the strongest risk factor for gastric carcinogenesis, may explain the very low gastric cancer rate among Egyptian population compared to other parts of the world. This finding demands further molecular studies using whole genome sequencing and more samples to determine the exact uncharacterized cagA genotype to identify the actual risk in developing gastroduodenal diseases in Egypt. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 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 5, 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 5, 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 5, 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 5, 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 5, 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 5, 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 5, 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 5, 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 5, 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 5, 2018 Category: Genetics & Stem Cells Source Type: research