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 determine the frequency distribution of myelomeningocele cyst location among pediatric patients at a tertiary care hospital of Karachi. Study Design and Setting: This cross sectional study was conducted in outpatient department of neurosurgery ward of JPMC. Methodology: All fifty male and female babies having myelomeningocele, newly born to more than 12 months of age, who presented in outpatient department of neurosurgery ward of JPMC during the period of six months were included in the study. Verbal informed consent of the parents was taken and babies were examined for the location, size and associated complains of myelomeningocele. Results: The patients presented mainly in the age group of newly born to 3months. Majority of them were males. Atonic bladder and bowel along with paralysis of lower limbs were uniformly found associated features. Among male patients distribution of myelomeningocele was 3% each in cervical and thoracic while 96% in lumbar region whereas female patients had 6% cervical and 84% lumbar cysts with no cyst in the thoracic region. The average size of MMC cyst in lumbar region was 4.0×4.2 cm. Conclusion: Cyst of myelomeningocele was found to be more in male children up to 3months of age with location in the lumbar region. The average size of cyst was 4.0×4.2 cm and accounted for atonic bladder and bowel along with paralysis of lower limbs

BackgroundSuccessful public health responses to pandemics rely on individuals being able to access, clearly understand and easily interpret relevant information about symptoms, prevention, testing and containment strategies. Accessing and interpreting information during the pandemic has been difficult for many populations, particularly those experiencing social or economic disadvantage. The aim of this study was to understand how a population of frequent hospital users originating, from a disadvantaged population, have accessed and interpreted information during the COVID pandemic in Melbourne.MethodsCross sectional telephone survey of 200 frequent hospital users (115 with limited English proficiency) informed by the World Health Organisation’s “Rapid, simple, flexible behavioural insights on COVID-19”. Primary outcome measures included knowledge of symptoms, preventive strategies, government restrictions aimed at containment, and belief in misleading information. Secondary outcome measure was perceived trustworthiness of information which was measured using content analysis of open-ended questions. ResultsOverall, the survey participants had poor understanding of misleading information (69%). 41.2% were unable to accurately identify symptoms, while 35.8% were unable to identify preventative strategies. Just under 1/3 (30.2%) were unable to describe government restrictions. English-speaking participants were almost three times (OR 2.69, 95%CI 1.47;4.91) more likely tohave adequate knowledge about symptoms, were twice as likely to understand local restrictions (OR 2.10 95%CI 1.06; 4.19) and were 11 times more likely to recognise information that was misleading or incorrect (OR 11.52 95%CI 5.39; 24.60) than those with limited English. 50% of those surveyed stated that theytrusted all information that they read or heard, with on 20% stating that they were uncertain or untrusting of some information.ConclusionLimited English proficiency was strongly associated with inadequate knowledge of COVID-19 and much greater likelihood of believing widely circulating misinformation. In order to reduce transmission, morbidity and mortality associated with COVID-19, health authorities must tailor health messaging to disadvantaged populations to ensure they have adequate access, and understanding, of the information.