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.

Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration
Conclusion Observations of an association between CNVs of VEGF gene and wet AMD have revealed that the CNVs of VEGF gene appears to be a possible contributor to wet AMD subjects in Malaysia. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II
We report a 4month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosi...
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings
Publication date: October 2017 Source:Egyptian Journal of Medical Human Genetics, Volume 18, Issue 4 Author(s): Solaf M. Elsayed, Radwa Gamal Schwartz Jampel syndrome is a rare autosomal recessive disease with distinctive clinical features, myotonia and skeletal deformities. Diagnosis is based on clinical findings, electromyogram showing myotonia and radiological findings of platyspondyly, vertebral coronal cleft and metaphyseal and epiphyseal changes of long bones. Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia. The disease is caused by mutations of H...
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Extremely low frequency electromagnetic field in combination with β-Lapachone up-regulates the genes of non-homologous end joining
Conclusion In overall, combination of β-Lap, Mor and EMF leads to increased expression of NHEJ related gene expression. This effect may lead to decreased sensitivity of SH-SY5Y cells against β-Lap and can improve its neuroprotective property which might be hopeful for its clinical applications. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt
Conclusion NGS provides a useful and rapid tool to allow panoramic screening of several genes simultaneously with a high sensitivity rate amongst genes of known etiologic role allowing high throughput analysis of HCM patients and relevant control series in a less characterised population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Role of toll like receptors in bacterial and viral diseases – A systemic approach
Conclusion This study reports the frequency distribution and association of human TLR genes with the bacterial and viral infection in the North Bengal region of India for the first time. It also signified the gene- disease- environment association study in case of infectious diseases and also the risk factors of bacterial and viral infections in this region. It also depicts the role of TLRs in the recognition of the pathogens. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Detection of Helicobacter pylori vacA, cagA and iceA1 virulence genes associated with gastric diseases in Egyptian patients
Conclusion In conclusion, the main genotype combinations in the studied Egyptian patients were; vacAs2m2/iceA1, vacAs1m1/cagA, mostly associated with gastritis, and vacAs1/cagA/icA, mainly in PUD. The less virulent (s2, s2m2) H. pylori genotypes were found in patients aged over 43years. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Association assessment of platelet derived growth factor B gene polymorphism and its expression status with susceptibility to coronary artery disease
Conclusion There is probably a relationship between variations in PDGF-B gene and CAD influence. The increase in PDGF-B gene expression may has a role in susceptibility to CAD. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Comparison of multiplex reverse transcription-PCR-enzyme hybridization assay with immunofluorescence techniques for the detection of four viral respiratory pathogens in pediatric community acquired pneumonia
Conclusion Multiplex reverse transcription PCR has an excellent potentials for diagnosis of viral pneumonia with a cost effective advantage in assessing simultaneously multiple clinically significant viruses. Rapid antigen tests for diagnosis of variable respiratory viruses, can be useful in etiological diagnosis of community acquired lower respiratory tract infection as well specially with the proved high sensitivity and predectivity in our study. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Screening of polymorphisms in the folate pathway in Turkish pediatric Acute Lymphoblastic Leukemia patients
Conclusion We showed that TYMS polymorphism (rs2853542) may be associated with ALL pathogenesis. In addition, our results demonstrated that MTHFR, DHFR and CBS do not affect development of leukemia. Our study displays also importance as it is the first screening results to identify association with the studied polymorphisms in Turkish patients with childhood ALL and determination of the frequency in Turkish population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Open-array analysis of genetic variants in Egyptian patients with type 2 diabetes and obesity
Conclusions/interpretation Overlapping genetic aspects should be considered and the presence of risk alleles of different genes together could contribute to the risk of T2D or obesity or both. The MTHFD1 and EXT2rs3740878 gene variants significantly affect obesity and not shared with T2D. Gene variants that showed combined effect on both disease entities were GCKR and PTGS1. These findings provide a basis for future studies on a larger scale. More stress on the risk gene variants that have a combined impact on both diabetes and obesity is recommended to improve risk prediction and preventive strategies. (Source: Egyptian J...
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Distribution of HLA-DRB1/DQB1 alleles and DRB1-DQB1 haplotypes among Tunisian patients with autoimmune hepatitis
Conclusions To our Knowledge, this is the first study performed to detect the HLA-DRB1 and DQB1 alleles associated with predisposition to AIH in Tunisian patients. The search for HLA predisposing genes to AIH may permit an earlier diagnosis allowing a better management and treatment of the disease in order to avoid liver transplantation. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

CYP2D6 pharmacogenomics
Publication date: October 2017 Source:Egyptian Journal of Medical Human Genetics, Volume 18, Issue 4 Author(s): Mohanan Geetha Gopisankar Cytochromes are proteins that catalyze electron transfer reactions of many metabolic pathways. They are involved in drug metabolism and thus determines the therapeutic safety and efficacy of drugs in patients. Cytochrome P450 in mitochondria accounts for 90% of the oxidative metabolism of clinically used drugs during phase 1 reaction. CYP2D6 is a major gene member of this superfamily as it carries out metabolism of 25% of drugs currently available in the market. Contrary to the concep...
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Genotyping of PPAR- γ gene polymorphism in Egyptian neonates affected with sepsis disease and its severity
Conclusion PPAR-γ gene has been suggested to be a candidate gene for neonatal sepsis. Therefore, Pro12Ala polymorphism might be useful in predicting the risk factor of neonatal sepsis and its severity. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women: A meta-analysis
Conclusion These observations suggested that the more common c.1066–6T>G (IVS10–6T>G) mutation and the rare c.7271T>G variant are not a risk factor for developing breast cancer in the Moroccan population. Larger and/or combined association studies are needed to clarify this issue. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 6, 2017 Category: Genetics & Stem Cells Source Type: research