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.

Challenges identified in the management of patients with inherited metabolic disorders – A five year experience from Pakistan
Conclusion Neonatal screening for IMDs and their treatment in the current situation is an unaffordable practical option in Pakistan. Screening parents, siblings and subsequent pregnancies, however, is likely to provide a cost effective and acceptable alternative in reducing the burden and enabling early, effective detection of affected progeny before the stage when neurometabolic changes become irreversible in developing countries like Pakistan with very limited resources. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - April 28, 2016 Category: Genetics & Stem Cells Source Type: research

Fragile X syndrome: Current insight
Publication date: Available online 27 April 2016 Source:Egyptian Journal of Medical Human Genetics Author(s): Deepika Delsa Dean, Srinivasn Muthuswamy, Sarita Agarwal Fragile X syndrome (FXS) is a multigenerational disorder having massive adverse effect not only on the individuals but also on their families. It is the most common type of intellectual disability after Down’s syndrome. Over two decades have passed since the discovery of FMR1, the causal gene for FXS, but still little is known about the pathophysiology of this disease. This lack of knowledge presents the major barrier encountered by the scientific...
Source: Egyptian Journal of Medical Human Genetics - April 27, 2016 Category: Genetics & Stem Cells Source Type: research

Association of MTHFR polymorphisms with nsCL/P in Chinese Uyghur population
Conclusion This study indicated that rs1801131 polymorphism in MTHFR was associated with nsCL/P in Chinese Uyghur population. Given the unique genetic and environmental characters of the Uyghur population, these findings may be helpful for exploring the pathogenesis of this complex disease. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - April 26, 2016 Category: Genetics & Stem Cells Source Type: research

Impact of genetic polymorphisms of four cytokine genes on treatment induced viral clearance in HCV infected Egyptian patients
Conclusion Analysis of IL-10 SNP at promoter site (−1082) could be used as a pretreatment predictor of response to combined PEG–IFN/RBV treatment. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - April 25, 2016 Category: Genetics & Stem Cells Source Type: research

Parathyroid hormone in pediatric patients with β-thalassemia major and its relation to bone mineral density; a case control study
Conclusion Osteopenia in β-thalassemia major patients is multifactorial and is mainly predisposed by defective function of the parathyroid gland and excessive iron deposition. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - April 23, 2016 Category: Genetics & Stem Cells Source Type: research

Inducible protective processes in animal systems XV: Hyperthermia enhances the Ethyl methanesulfonate induced adaptive response in meiotic cells of grasshopper Poecilocerus pictus
Conclusion There is a protection against EMS induced anomalies by hyperthermia in in vivo P. pictus. As far as our knowledge is concerned, this is the first report to demonstrate that hyperthermia enhances the EMS induced adaptive response in in vivo meiotic cells. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - April 7, 2016 Category: Genetics & Stem Cells Source Type: research

Study of obesity associated proopiomelanocortin gene polymorphism: Relation to metabolic profile and eating habits in a sample of obese Egyptian children and adolescents
Conclusion This polymorphism was associated with higher fasting insulin levels in the obese patients only. These findings support the hypothesis that the melanocortin pathway may modulate glucose metabolism in obese subjects indicating a possible gene-environment interaction. POMC variant may be involved in the natural history of polygenic obesity, contributing to the link between type 2 diabetes and obesity. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 11, 2016 Category: Genetics & Stem Cells Source Type: research

Association between methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and risk of ischemic stroke in North Indian population: A hospital based case–control study
Conclusion Findings of the present study suggest that MTHFR C677T gene polymorphism might be a risk factor of IS mainly for SVD subtypes of IS in North Indian population. Further large prospective studies are required to confirm these findings. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 7, 2016 Category: Genetics & Stem Cells Source Type: research

Strength training versus chest physical therapy on pulmonary functions in children with Down syndrome
Conclusion Strength exercises to lower limb muscles are not effective as chest physical therapy on improving pulmonary functions in children with Down syndrome. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 4, 2016 Category: Genetics & Stem Cells Source Type: research

Corrigendum to “A novel nonsense mutation in the cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome” [Egypt. J. Med. Hum. Genet. 16 (4) (2015) 387–392]
Publication date: Available online 28 February 2016 Source:Egyptian Journal of Medical Human Genetics Author(s): Hala Soliman, Heba Gamal Eldeen, Mostafa Ibrahim Mostafa (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - February 29, 2016 Category: Genetics & Stem Cells Source Type: research

Treatment options for patients with Gaucher disease
Publication date: Available online 28 February 2016 Source:Egyptian Journal of Medical Human Genetics Author(s): Rabah M. Shawky, Solaf M. Elsayed Gaucher disease is the most common lysosomal storage disorder due to deficiency of ß-glucocerebrosidase. Since the introduction of Ceredase in 1991, enzyme replacement therapy has been the mainstay of treatment with its major disadvantage of long life dependency on biweekly IV therapy. It was more than a decade later when the substrate reduction therapy – an oral treatment – was approved for Gaucher disease. Future therapeutic modalities will include pharmacological...
Source: Egyptian Journal of Medical Human Genetics - February 29, 2016 Category: Genetics & Stem Cells Source Type: research

Mitochondrial control region and GSTP1 polymorphism associated with familial urinary bladder cancer in Karbi-Anglong tribe of Assam, Northeast India
Conclusion A strong familial nuclear GSTP1 sequence variation and mitochondrial control region was observed in this study for familial urinary bladder cancer. This could afford early recognition of patients at risk of developing micro- or macroscopic, pathological lesions as well as the introduction of preventive measures for familial bladder cancer. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - February 22, 2016 Category: Genetics & Stem Cells Source Type: research

DNA repair gene XRCC7 G6721T variant and susceptibility to colorectal cancer
Conclusion The present study suggests the TT genotype of the XRCC7 G6721T polymorphism might be a risk factor for the development of colorectal cancer among persons with positive FH. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - February 22, 2016 Category: Genetics & Stem Cells Source Type: research

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child
We report a 2.5year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect. The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot’s spots most probably due to vitamin A deficiency. MRI brain revealed agene...
Source: Egyptian Journal of Medical Human Genetics - February 19, 2016 Category: Genetics & Stem Cells Source Type: research

Prevalence of glucose-6-phosphate dehydrogenase deficiency in India: An updated meta-analysis
Conclusion In conclusion the present meta-analysis confirms the overall magnitude of the frequency of G6PD deficiency (8.5%) in the Indian population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - February 7, 2016 Category: Genetics & Stem Cells Source Type: research