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 5, 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 5, 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 5, 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 5, 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 5, 2018 Category: Genetics & Stem Cells Source Type: research

Helicobacter pylori Western cagA genotype in Egyptian patients with upper gastrointestinal disease
Conclusion Absence 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 4, 2018 Category: Genetics & Stem Cells Source Type: research

Fuzzy system model for gene expression
Conclusion The 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 4, 2018 Category: Genetics & Stem Cells Source Type: research

Angiotensin-converting enzyme (ACE) I/D and bradykinin B2 receptor T/C genes polymorphism in patients with ACE inhibitors-related cough
Conclusions While the evidence in our meta-analysis suggests strong role for bradykinin gene polymorphism in ACE inhibitors-related cough, however, in our population, we did not find any association. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - June 27, 2018 Category: Genetics & Stem Cells Source Type: research

Study of DNA methyl transferase 3A mutation in acute myeloid leukemic patients
Conclusion DNMT3A R882H is a frequent mutation in adult de novo AML. The frequency of the mutation tends to increase with age. The two methods used in the study are easy to interpret and are recommended for rapid detection of the mutation required for risk stratification. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - June 14, 2018 Category: Genetics & Stem Cells Source Type: research

Study of congenital malformations in infants and children in Menoufia governorate, Egypt
Publication date: Available online 31 May 2018 Source:Egyptian Journal of Medical Human Genetics Author(s): Soheir S. AbouEl-Ella, Maha A. Tawfik, Wafaa Moustafa M. Abo El-Fotoh, Mai A. Elbadawi Congenital anomalies is one of the main causes of physical disabilities, stillbirths and neonatal deaths. The exact etiology of most congenital anomalies is unidentified but genetic and environmental causes are accused. We aimed to study congenital anomalies regarding frequency, clinical pattern and associated risk factors. A cross-sectional study was conducted on 100 infants and children with congenital anomalies attended to...
Source: Egyptian Journal of Medical Human Genetics - June 1, 2018 Category: Genetics & Stem Cells Source Type: research

Evaluation of health-related quality of life and muscular strength in children with beta thalassemia major
Conclusions The study concluded that thalassemia as a chronic disease has a negative impact on HRQoL and muscle strength of children in different age group. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 27, 2018 Category: Genetics & Stem Cells Source Type: research

Genetic study of the NOTCH3 gene in CADASIL patients
Conclusion We found four novel mutations (P109T, P203H, IVS7 + 15A>G and IVS7 + 16A>G) and 2 reported NOTCH3 mutations. Exon 4 and Intron 7 are hotspots in the patients we examined with the NOTCH3 mutations. These findings broaden the mutational spectrum of CADASIL. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 24, 2018 Category: Genetics & Stem Cells Source Type: research

Left ventricle myocardial performance in Down Syndrome children with clinically and anatomically normal hearts: Relationship to oxidative stress
Conclusion Subclinical Left ventricle dysfunction evidenced by increased TDI Tei index was detected in DS children with normal hearts. This dysfunction correlated with plasma MPO level which mandates antioxidants treatment and tissue Doppler myocardial performance regular evaluation for early identification, monitoring and early intervention. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 22, 2018 Category: Genetics & Stem Cells Source Type: research

Evaluation of dysmorphic children according to echocardiographic findings: A single center experience
Conclusion According to our study findings, abnormal echocardiography findings were significantly associated with neonatal sex, consanguineous marriage, polyhydramnios, IUGR, preterm delivery and chromosomal aneuploidies in dysmorphic children. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 13, 2018 Category: Genetics & Stem Cells Source Type: research

Evaluation of the association of single nucleotide polymorphisms in DDP4 and CDK5RAP2 genes with rheumatoid arthritis susceptibility in Iranian population
Conclusions It appears that gene polymorphisms of DPP4 and CDK5RAP2 are not involved in the pathogenesis of RA in Iranian population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 13, 2018 Category: Genetics & Stem Cells Source Type: research