METHODS: A prospective study of 485 consecutive patients who underwent colonoscopy during a 22-month period was performed. All patients answered a detailed questionnaire. Indications for colonoscopy and the findings were recorded.
RESULTS: The mean age of the study population was 55.7 +/- 14.7 years. There were 221 (45.6%) males and 264 (54.4%) females. Sixty-five (13.4%) were Malays, 298 (61.4%) were Chinese and 112 (23.1%) were Indians. Multiple backward stepwise regression analysis revealed that independent predictors for colorectal cancer (odds ratio [95% CI]) were the presence of rectal bleeding (4.3 [4.0-8.0]) and iron deficiency anemia (4.0 [3.6-10.2]). In those aged 50 and over, male gender (4.5 [2.2-9.3]) and abdominal pain (3.1 [1.4-6.7]) were also significant positive predictors of cancer.
CONCLUSIONS: With the ever-increasing demand for gastrointestinal endoscopy, the appropriate utilization of colonoscopy is essential to afford prompt patient evaluation. Our study supports the need to prioritize the use of colonoscopy in patients with rectal bleeding and iron deficiency anemia. In the older patient where the background prevalence of colorectal cancer is higher, referral for colonoscopy is also justified.
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.