OBJECTIVE: To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1.
SETTING: Tertiary referral university hospital setting.
PATIENTS AND METHODS: A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact.
RESULTS: Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a novel dinucleotide deletion on the other allele.
CONCLUSIONS: We describe a novel dinucleotide deletion in the first exon of the FRDA gene in two siblings with FRDA1. Additionally this is the first report of FRDA1 occurring in a family of southeast Asian descent, it demonstrates intrafamilial phenotypic variability, and confirms that atypical phenotypes are associated with compound heterozygosity.
AIM: To determine the correlation between STH infection with serum iron (SI) level on primary school children, as well as to determine the prevalence of SI level and worm infection, and the type of worm that infects the most of them.
METHODS: This study was conducted in the cross-sectional method. Consecutive sampling technique was used and a total of 132 students age 8-12 years old were included. The study took places in Public Primary School 060925 Amplas, Medan and 101747 Hamparan Perak, Deli Serdang throughout May-October 2016. Fisher Exact test was used to analyse the correlation between STH infection and SI level.
RESULTS: The prevalence of STH infection was 7.6%, and low SI was 11.4%.
CONCLUSION: There was no significant correlation between STH infection and SI level (P = 0.317). The prevalence of low SI level was not significantly dependent on STH infection (RP = 1.877, 95% CI = 0.481-7.181).