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.

Detecting Mycoplasma pneumoniae infections in nasopharyngeal specimens from Paediatric patients with asthma exacerbations in Baghdad: A Polymerase Chain Reaction – Gene based study
Conclusions Family history of atopy has strong association with asthma (p =0.005), while factors such as sex, residence, seasonal allergen, animal allergen, passive smoking, mode of delivery or consanguinity has not been associated with asthma. M. pneumonia in a respective bulk among pediatric patients with asthma constituted an important risk factor for asthma exacerbation presented as cough and wheezy chest without fever or chest X-ray findings. (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 of adiponectin gene (ADIPOQ) polymorphisms with measures of obesity in Nigerian young adults
Conclusion This study in young Nigerian adults confirmed previously reported association of SNP −11377C>G with obesity measures in other populations. (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 novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia
In this study, we aimed to analyze mutations in MYH9 gene in our patient, we found a T to G nucleotide change at 3814 in exon 25, resulting in a transition of Serine to Alanine (p.S1195A) in MYH9 gene (Fig. 1) This mutation is reported for the first time in our population and not defined at Human Gene Mutation Database (HGMD) previously. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

The relation of thrombomodulin G33A and C1418T gene polymorphisms to the risk of acute myocardial infarction in Egyptians
Conclusions TM 1418C>T gene polymorphism, but not TM 33-G>A, may be associated with an increased risk of AMI in the Egyptian population. These results may have clinical implication in the management of AMI in the future. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Majewski Osteodysplastic Primordial Dwarfism, Type II with marked loss of subcutaneous fat, severe anemia, clenched hands and skeletal anomalies in an Egyptian patient
We report a 4month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II). 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 hypertrichosis over lower back and butto...
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes
Conclusion Our findings indicate a loss of the correct regulation of rDNA activity and processing after amplification. This could disturb the ribosomal apparatus and thus lead to intellectual disability via at least two mechanisms. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

First report of microcephaly-capillary malformations syndrome in Russia
Conclusions This report presents a case of MIC-CAP syndrome with earlier unreported new mutations of the STAMPB gene. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Are we missing fucosidosis?
Publication date: Available online 1 September 2017 Source:Egyptian Journal of Medical Human Genetics Author(s): Solaf Elsayed (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 of variable number tandem repeats polymorphism in the IL-4 gene with end-stage renal disease in children
Conclusion we concluded that the P2 allele is an allelic variant predisposing to ESRD in children with CKD and it could be considered a risk factor for the development of ESRD. (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 between Interleukin-18 promoter polymorphisms and risk of ischemic stroke: A case-control study
Conclusion This study concludes that IL-18 −607AA genotype and A allele may be risk factors to IS, whereas IL-18 −137GC genotype and C allele may be protective factors against IS in Egyptian 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

Expression study of CYP19A1 gene in a cohort of Iranian leiomyoma patients
Conclusions Our results were in accordance with previous studies and imply that up-regulation of CYP19A1 is correlated with the pathogenesis of leiomyoma tumors. We also observed that expression level of CYP19A1 was not linked to the tumor size or localization. It can be concluded that; up-regulation of aromatase is a key factor in the initiation of tumor development as well as tumor growth. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects
Conclusion An elevated levels of maternal homocysteine is an independent risk factor for congenital heart defects. Finally: There is an increasing need for professionals to apply and interpret genetic testing in a clinically meaningful way for prevention of congenital heart defects. (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 of proinflammatory cytokine IL-20 gene polymorphism with psoriasis in north Indian population
Conclusion These findings suggest that IL-20 polymorphism have significant role towards the susceptibility of psoriasis in north Indian population. Evaluating the role of IL-20 cytokine in pathogenesis of psoriasis will prove helpful for the development of psoriasis management. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Modified T-cells (using TCR and CTAs), chimeric antigen receptor (CAR) and other molecular tools in recent gene therapy
Publication date: Available online 25 September 2017 Source:Egyptian Journal of Medical Human Genetics Author(s): A.S. Odiba, V.E. Ottah, O.K. Iroha T-cell-based cancer immunotherapy by the transfer of cloned TCRs that are isolated from tumor penetrating T-cells becomes a possibility through NY-ESOc259; a human-derived affinity-enhanced TCR that provides a level of sufficiency in long-term safety and efficacy. NY-ESOc259 recognizes a peptide common to CTAs (LAGE-1 and NY-ESO-1) in melanoma. Risks associated with insertion related transformation in gene therapy have been alleviated through strategies that include the e...
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research

Multiplex polymerase chain reaction: Could change diagnosis of Ventilator-associated pneumonia in pediatric critical care units to the fast track?
Conclusion Multiplex-PCR permits simultaneous detection of several bacterial pathogens in a single reaction with best turnaround time that permit optimization of emergency diagnosis of VAP and subsequently improve early management of selective bacterial 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