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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

Objectives: To analyse frequencies and results of anti-nuclear antibodies, anti-double stranded deoxyribonucleic acid and anti-extractable nuclear antigens tests ordered in a tertiary-care hospital. Method: The retrospective study was conducted at a tertiary care hospital in Karachi, and comprised all tests ordered for anti-nuclear antibodies, anti-double stranded deoxyribonucleic acid and anti-extractable nuclear antigens from March 2017 to January 2018. Data was retrieved from the institutional electronic database. The frequencies and results of the tests were determined. Anti-nuclear antibodies test was determined by indirect immunofluorescence, while the other two tests were determined by enzyme-linked immunosorbent assay. Patterns emerging from anti-nuclear antibodies tests were also analysed. Results: Of the 1053 tests ordered, 1000(95%) were for anti-nuclear antibodies.. It was positive in 260(26%) patients, and was repeated in 8(3%) of the positive and 9(1.2%) of the negative patients. Anti-double stranded deoxyribonucleic acid test was ordered in 300(40.5%) and anti-extractable nuclear antigens test in 125(17%) patients who had tested negative for anti-nuclear antibodies. Among those who tested positive for anti-nuclear antibodies, the commonly observed patterns were homogenous 109(41.9%) and speckled 103(39.6%). Rod and ring pattern was seen in 10(3.8%) patients, and none of them was on anti-viral treatment. Conclusion: There was injudicious and unjustified ordering of auto-antibodies testing, indicating the need for greater physician education and cost-effective protocols. Key Words: Auto-antibodies, Homogenous, Speckled, Rod and ring pattern, Hepatitis C, Continuous...

Objectives: To evaluate the presence and characteristics of additional karyotype abnormalities in chronic myeloid leukaemia cases. Method: The cross-sectional study was conducted at the Department of Cytogenetics and Molecular Pathology, National Institute of Blood Diseases and Bone Marrow Transplant, Karachi, from May 2010 to September 2016 and comprised diagnosed chronic myeloid leukaemiapatients regardless of age and gender.Baseline cytogenetic evaluation was done on overnight, 24-hrs un-stimulated and 72-hrs stimulated bone marrow cultures, and karyotypes were defined according to the International System for Human Cytogenetic Nomenclature2013. Data was analysed using SPSS 23. Results: There were 222 cases with a median age of 38 years (range: 12-84 years). The male-to-female ratio was 1.8:1. Chronic myeloid leukaemiawas detected in 18(8.1%) patients havingadditional cytogenetic abnormalities. Among the patients found positive, cytogenetic type was minor in 10(55.55%), major 3(16.66%), complex 3(16.66%), and variant 2(11.11%). . Conclusion: Additional cytogenetic abnormalitieswere found in 8% of the sample. Key Words: Additional cytogenetic abnormalities, Chronic myelogenous leukaemia, Bone marrow, Cytogenetics.