Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy.

Background & objectives: Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allelespecific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is commonly used when performing diagnostic screening using restriction enzymes. Methods: A total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR. Results: The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method. Interpretation & conclusions: Our study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening.

A qualitative study on malnutrition in children from the perspectives of health workers in Tumpat, Kelantan

Underlying causes of most nutrition related problems are diverse, including biological, social, cultural, and economic factors. Qualitative approaches complement quantitative methods in identifying the underlying meanings and patterns of relationships involved in managing malnutrition. This study examined perceptions regarding malnutrition among health workers from 7 clinics (community and health clinics) in Tumpat, Kelantan. A total of 18 nurses and 2 doctors, who were involved in monitoring child health and nutrition, were included in the study. These health workers were interviewed using a semi-structured questionnaire adapted from Sastry’s framework on malnutrition (Sastry, 1996). The questionnaire included biological, behavioral and environmental factors that influence child health and nutrition. All the health workers perceived that mothers/caregivers play the main role in improving the health of malnourished children. The quality of childcare was rated as moderately satisfactory by the health workers. Most of the affected families who were given the Food Baskets did not fully use all the items for the malnourished child. Child feeding practice was based on the needs of the whole family rather than according to the target child’s needs. Most of the mothers preferred processed cereals than rice porridge because the former is easier to prepare for the child. Although they were from a low socioeconomic background, most of the mothers were not earning additional income for the family. The qualitative methodology provided information that can be used as a basis for the designing of quantitative questionnaires to assess malnutrition among children. The induction characteristic of qualitative methods was used to gain an understanding of the underlying reasons or phenomena such as behaviours that are directly observable.