Objective: To investigate the mutation in Vangl1 gene in patients of myelomeningocele. Method: The cross-sectional study was conducted from July 2017 to December 2017 in the Dow Diagnostic and Research Laboratory, Karachi, after approval from the ethics review committee of Dow University of Health Sciences, Karachi, and comprised clinically diagnosed infants and 10 healthy individuals from the outpatient department of Jinnah Postgraduate Medical Centre, Karachi. Several anatomical parameters were considered, such as size and site of the cyst. Blood samples were drawn and polymerase chain reaction was conducted for the identification of mutation in Vangl1 gene. Mutation analysis was carried out by aligning the sequence with the reference sequence. Results: Of the 60 subjects, 50(83.3%) were cases with age range 0-10 years, and 10(16.6%) were age matched controls. Majority of the patients 44 (88%) were aged <1 year. Novel mutation in Vangl1 gene was identified at position 239, showing the substitution of valine with glycineV239G. Lumbar region was the most common site for the presentation of myelomeningocele in most of the patients 46(92%). Conclusion: The rare mutation of myelomeningocele was found present in the sample, and the disease was found mostly in the lumbar region. Key Words: Myelomeningocele, Neural tube disorders, Valine, Glycine, Mutation.
Objective: To observe the protective effect of zingiber officinale against radio frequency (RF) radiation-induced oxidative stress on rat brain due to 3G mobile phone. Study Design: Prospective Experimental study. Setting: Department of Anatomy, BMSI, JPMC, Karachi. Period: January to March 2018. Material & Methods: Twenty four healthy, adult, Albino rats, 3-4 months of age, weighing 150-300 gm were acquired. They were sorted into four groups. Group A was marked as control, Group B was exposed to 3G mobile phone 2100MHz radiation 24 hours daily, Group C was exposed to same dose of radiation as group B along with zingiber officinale 250mg/kg/day orally, and Group D was given same dose of zingiber officinale as in group C. The rats were euthanized at end of study period after recording their final weight. Brain of rats was removed and weighed. It was processed for haematoxylin and eosin stain to observe general morphology of cerebellum. Results: The data displayed an insignificant increase in final body weight and absolute brain weight in group B animals as compared to control, whereas an insignificant increase and insignificant decrease was observed in body weight and absolute weight of brain when group C was compared with group B respectively. Microscopic examination of cerebellum in H & E stained sections revealed distortion of cellular architecture in group B as compared to control. Tissue sections from group C demonstrated significant restoration of cerebellar architecture. Results of group D were similar to control. Conclusion: Cell phones emit radiation causing damage to brain, especially cerebellum, however, concurrent use of ginger significantly ameliorates this damaging effect.
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