RESUMO
PURPOSE: The incidence of paediatric fractures is known to peak during the summer as a consequence of unsupervised physical activity. A more sedentary lifestyle is a potential cause for changes in paediatric seasonal fracture frequency and severity. The aim of this study was to evaluate the current seasonal variations of paediatric fractures in order to determine resource allocation in hospitals, community clinics and prevention programs. METHODS: A single institutional review of historical data of all patients aged 0 to 16 years that were diagnosed with fractures between April 2014 and July 2017 in the emergency department of a level 3 orthopaedic trauma centre was conducted. In all, 3484 fractures were reviewed, of which 2991 were included. We stratified fractures according to patients' variants and the hour, day and month with respect to holidays, weekends and weather. RESULTS: While the fracture rate on school days was 6.62 per day, the fracture rate during the summer vacation was 4.45 (p < 0.01). Hot weather was correlated with low fracture rates. The peak hours of admission were 12:00 to 13:00 and 18:00 to 22:00, with more moderate differences during non-school periods. CONCLUSION: The local seasonal variation of paediatric fractures has a bimodal distribution, with similar nadirs during both summer and winter. These rates might reflect a shift to a more sedentary lifestyle during the summer vacation. The presented data can assist in improving the value of injury prevention measures and medical resources allocation. LEVEL OF EVIDENCE: II.
RESUMO
BACKGROUND: beta-thalassemia is one of the most common inherited single gene disorder in Pakistan. It is characterized by reduced or absent beta-globin gene expression resulting in abnormal maturation and survival of red blood cells. Due to high prevalence of this disease in the local population, it has become important for the health care providers to encourage people to utilize laboratory facilities for carrier and prenatal genetic testing. OBJECTIVE: To study the frequency of beta-thalassemia mutations in Pakistani population. SETTING: A tertiary care teaching hospital. METHODS: Blood samples of 72 couples and chorionic villus (CV) biopsy specimen collected at the Aga Khan University Hospital, Karachi were tested by Amplified Refractory Mutation Systems (ARMS) for the 12 most common mutations in the beta-globin gene. RESULTS: Out of 72 chorionic villus biopsy specimen analyzed, 17 (23%) had mutations in both alleles of the beta-globin gene. Homozygosity was identified in 6 CV samples, whereas 11 CV specimens were diagnosed as double heterozygous. Almost 60% of the CV biopsies showed mutations in one allele and were diagnosed as carriers. IVSI-5 (G-C) was the most common mutation identified in this study. It was found in 53% of the subjects and was represented equally in all the ethnic groups except Pathans. Several regional and ethnic differences were observed in the distribution of common mutations, for example in Pathan families Fr 8-9 (+G) mutation was most prevalent. In addition, variation in the distribution of mutations was also observed between the Northern and the Southern regions. CONCLUSION: This study indicates that in Pakistan, the five most common mutations are IVS1-5 (G-C), IVS1-1 (G-T), Fr 41-42 (-TTCT) Fr 8-9 (+G) and deletion 619 bp. An important factor contributing to high incidence of thalassemia is the unawareness among people about the available diagnostic facilities for the prenatal diagnosis in Pakistan. Strict implementation of collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing beta-thalassemia in Pakistan.