Journal/Magazine Articles

Permanent URI for this collectionhttp://repository.kln.ac.lk/handle/123456789/13

This collection contains original research articles, review articles and case reports published in local and international peer reviewed journals by the staff members of the Faculty of Medicine

Browse

Author: search.filters.author.Senarathne, U.

Search Results

Now showing 1 - 2 of 2
  • No Thumbnail Available
    Item
    The establishment of a population-specific reference value for the ruler drop test for the clinical assessment of reaction time
    (Elsevier, 2023) Rajapaksha, S.; Kitulwatte, I.; Senarathne, U.; Edirisinghe, A.; Perera, P.
    BACKGROUND: Reaction time (RT) is the interval between a stimulus and an appropriate voluntary response in an individual. Alcohol is known to result in delayed RT. In Sri Lanka, an alleged drunken driver is legally subjected to a medico-legal examination to confirm or exclude impairment. The guideline for examining a drunk person in Sri Lanka includes the ruler drop test (RDT) as a test of RT. RDT is a simple test of visual reaction time in which the subject attempts to stop a falling ruler, and the height fallen is used to determine the time taken to react to the event. However, a formal study has yet to be carried out to establish population-specific reference values to interpret RDT results. METHODS: A cross-sectional descriptive study was conducted using 903 adults ≥18 years. A nonparametric approach was applied for deriving the reference values based on an inter-percentile interval. RESULTS: The study population consisted of 56.6% females, and the mean age of the participants was 41.6 years. Most (95%) of the study population could catch the ruler at or less than 40.0 cm of average height. The average height on RDT increased from younger to older age groups. However, subgrouping based on other variables, including sex, age, and alcohol consumption, did not show any statistically significant difference. CONCLUSIONS: The population-specific cut-off limit to identify alcohol intoxication by RDT in a Sri Lankan adult is 'average height' >40 cm.
  • Thumbnail Image
    Item
    A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.
    (BioMed Central,, 2021) Rathnasiri, A.; Senarathne, U.; Arunath, V.; Hoole, T.; Kumarasiri, I.; Muthukumarana, O.; Jasinge, E.; Mettananda, S.
    Background: Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involving Xp21 genomic location. Case presentation: A Sri Lankan boy with developmental delay and failure to thrive first presented at three years of age with hypovolaemia, hyperpigmentation and drowsiness. Investigations done at that time revealed hypoglycaemia, hyponatraemia, hyperkalaemia, low cortisol, low aldosterone, high ACTH and low 17-hydroxyprogesterone. He was diagnosed to have primary adrenal insufficiency. During follow-up at five years, he was noted to have progressive difficulty in walking, waddling gait, hypotonia, calf hypertrophy and positive Gower’s sign. His creatine kinase was very high, and the electromyogram showed myopathy. Genetic analysis revealed hemizygous deletion involving the final 35 exons of the dystrophin gene confirming the diagnosis of Duchenne muscular dystrophy. Further investigations revealed pseudohypertriglyceridemia, large glycerol peak on urine organic acid analysis and hemizygous deletion of the glycerol kinase gene confirming glycerol kinase deficiency. Based on the presence of Duchenne muscular dystrophy, glycerol kinase deficiency and probable congenital adrenal hypoplasia along with genetic confirmation of deletions involving dystrophin and glycerol kinase genes, the diagnosis of Xp21 contiguous gene deletion syndrome was made.Conclusions: We report a child with contiguous gene deletion syndrome who was initially diagnosed as having isolated primary adrenal insufficiency probably due to congenital adrenal hypoplasia. Later he was confirmed to have Duchenne muscular dystrophy and glycerol kinase deficiency, as well. This case report highlights the importance of pre-emptive evaluation and identification of genetic defects when patients present with seemingly unrelated diseases that could aid in accurate diagnoses of contiguous gene deletion syndromes.