Biosafety perspective of clinical laboratory workers: a profile of Pakistan.

INTRODUCTION: Biosafety during lab work is an important concern in developing countries. Some critical issues concerning biosafety are lack of training, exceeding workload, working too fast, deciding not to follow safe practices, and skepticism about biohazards. This study aimed to determine biosafety perception and practices of laboratory technicians during routine work in clinical laboratories of Pakistan. METHODOLOGY: A total of 1,782 laboratory technicians were interviewed from major public sector hospitals and a few private hospital laboratories throughout Pakistan. RESULTS: A total of 1,647 (92.4%) males and 135 (7.6%) females participated in the study, with over half (59.7%) having more than five years of work experience. Results showed that 28.4% of the laboratory technicians from Punjab, 35.7% from Sindh, 32% from Balochistan and 38.4% from Khyber Pakhtoon Khawa (KPK) did not use any personal protective equipment. Almost 46% of the respondents (34.2% from Punjab, 61.9% from Sindh, 25.2% from Balochistan and 85% from KPK) said they reused syringes either occasionally or regularly. Furthermore, 30.7% of the respondents said they discard used syringes directly into municipal dustbins. The majority (66.7%) claimed there are no separate bins for sharps, so they throw these in municipal dustbins. Mouth pipetting was reported by 28.3% technicians. Standard operating procedures were not available in 67.2% labs, and accident records were not maintained in 83.4%. No formal biosafety training had been provided to 84.2% of the respondents. CONCLUSION: Laboratory technicians in Pakistan lack awareness of good laboratory practices and biosafety measures, and also face a lack of resources.

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Autosomal recessive primary microcephaly (MCPH) is a rare neurological disorder, in which the patients exhibit reduced occipital frontal head circumference (>3 standard deviations) and mild-to-severe mental retardation. Autosomal recessive primary microcephaly is genetically heterogeneous and 7 loci have been reported to date. Mutations in ASPM (abnormal spindle-like, microcephaly associated) gene are the most common cause of autosomal recessive primary microcephaly in the majority of the reported families. In the current investigation, we have located and studied 21 families with autosomal recessive primary microcephaly. Genotyping using polymorphic microsatellite markers linked to 7 autosomal recessive primary microcephaly loci revealed linkage of 18 families to the MCPH5 locus. Sequence analysis of the ASPM gene in 18 linked families detected 2 novel nonsense mutations (c.2101C>T/p.Q701X; c.9492T>G/p.Y3164X) in 2 families and 2 novel deletion mutations (c.6686delGAAA/p.R2229TfsX9; c.77delG/p.G26AfsX41) in 2 other families. Three previously described mutations (c.3978G>A/p.W1326X; c.1260delTCAAGTC/p.S420SfsX32; c.9159delA/p.K3053NfsX4) were also detected in 11 families. These identified mutations extended the body of evidence implicating the ASPM gene in the pathogenesis of human hereditary primary microcephaly.