Aim: To detect the novel mutation in VANGL1 gene indicating genetic association of Myelomeningocele. Methodology: The study design was cross sectional. It comprises of sixty individuals, of them fifty were diagnosed cases of myelomeningocele and ten were healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center. The study was carried out in Dow Diagnostic and Research Laboratory (D.D.R.L.). Most of the patients were less than one year of age. The cases were evaluated for various other parameters like site and size of cyst and associated features like presence of hydrocephalus in the individuals. Since folic acid deficiency is the key component in the causation of the disease so mothers were also asked about the consumption of folic acid. Blood was drawn from patients after a written permission from the parents of the concerned patient. It was followed by the conduction of PCR to seek for any mutation in VANGL1 gene. Results: We found a rare mutation in VANGL1 gene revealing substitution of valine to serine at position 239 i.e. V239S. Hydrocephalus being the associated anomaly was present in 32% of the patients. Most of the affected individuals were males. 98% mothers of the sufferers did not take folic acid during pregnancy. In most of the patients, lump was present on the lumbar region. Conclusion: Myelomeningocele is a congenital birth defect with lifelong complications. Its prevalence can be decreased by taking certain measures. Periconceptional intake of folic acid has been established to lessen the risk of the disease. We identified a rare mutation in VANGL1 gene that may result in the causation of myelomeningocele. Keywords: Neural tube defects, mutation, myelomeningocele.
Objective: To determine the effectiveness of dissection as a useful pedagogy in the field of anatomy through assessment of views of respondents. Methods: A cross-sectional study was carried out in the anatomy department of a private and a public sector college for a period of twelve weeks during the year 2018.A total of 135 participants were re- cruited in this survey. The nature of participation (regular or irregular) in comparison was used as the predictor variable. The average scores for each item were calculated and compared between the par- ticipants at dissections using Mann-Whitney's U test. Likert-style survey was designed for evaluation. The IBM SPSS statistics version 21 was used for the analysis of data. Results: A large number of participants overall strongly supported the version that a dissection pro- gram should be essentially inducted into the curriculum; viewed non-participation at dissection ses- sions as to be disadvantageous in terms of their learning repertoire. Seventy eight percent stated it deepens understanding of anatomy as a subject. Around 80% of the participants preferred dissection over other tools of learning, whereas 67% agreed that it develops 3-dimensional structural approach; also agreed with the time allocated for dissection is sufficient for learning (57%). Besides this, a mi- nority of respondents put up a negative perception in terms of dissection being time consuming (36%), stress inducing (18%), boring (20%), and difficulty in finding out structures was also reported (43.3%). Conclusion: The use of dissection in undergraduate medical education as part of anatomy pedagogy may develop a useful golden opportunity for students to work on additional learning objectives such as professionalism, manual dexterity, ethics, teamwork, self- and peer evaluation.
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