Estimation of Total Body Surface Area Burned: A Comparison Between Burn Unit and Referring Facilities.

Accuracy of burn size estimation is critical in acute burn management because it directly affects the patient's outcome and prognosis. This study aims to quantify the discrepancies of total body surface area (TBSA) burned between the burn unit (TBSAb) and the referring facilities (TBSAr). Data of all referred adult and paediatric patients admitted to the Hospital Universiti Sains Malaysia Burn Unit within 24 hours post burn were retrospectively reviewed from 2015 to 2019. %TBSA discrepancies were calculated by the differences between TBSAb and TBSAr. A total of 208 patients (111 adults and 97 paediatric patients) were recruited in this study. Of these, the TBSA was overestimated in 60.58% cases, underestimated in 13.46% cases, accurate in 7.69% cases, and in 18.27% cases the referrals had no TBSAr stated. The %TBSA discrepancy was the highest in severe burns (mean 10.80% in adults and 7.59 in paediatric patients; P<0.001). The time interval between referral and reassessment and patients' body mass index (BMI) were not statistically significant for the magnitude of TBSA discrepancy. The number of burn areas involved correlated with the %TBSA discrepancies, with the highest recorded discrepancy being 21.50% in whole body involvement. There were significant discrepancies in TBSA estimations between the referring facilities and those of the Hospital Universiti Sains Malaysia (USM) burn unit, especially among the paediatric patients and those with severe burns. Implementation of educational programs by burn care experts and agreement on a universal method of TBSA assessment are necessary in reducing the discrepancies.

L'estimation précise de la surface brûlée est cruciale dans la prise en charge des patients. Cette étude a évalué les différences d'évaluation de SB selon sa réalisation en CTB (CTB) ou ailleurs (A). Les données de tous les patients (111 adultes et 97 enfants) hospitalisés entre 2015 et 2019, dans les 24h suivant leur brûlure, dans le CTB du CHU Universiti Sains Malaysia ont été revues rétrospectivement. L'estimation A n'était correcte que dans 7,69% des cas. Elle était exagérée dans 60,58% des cas, minorée dans 13,46% et absente dans 18,27%. L'erreur était plus nette (10,8% chez les adultes, 7,59% chez les enfants) en cas de brûlure grave. Le BMI et la durée entre les évaluations A et CTB n'entraient pas en ligne de compte. L'erreur augmentait avec le nombre de régions touchées, pour atteindre 21,5% si toutes comportaient une brûlure. Ces constatations nous amènent à proposer des actions d'éducation dispensées par des brûlologues et l'acceptation par tous d'une méthode unique de calcul de la SB.

Patency of permanent vascular access creation in paediatric patients with end stage renal disease.

Renal transplant is the first-line therapy in paediatric patients with end-stage renal disease (ESRD). Wong HS and Goh BL reported up to 79% of 1061 paediatric patients still require long-term haemodialysis (HD).1 The lack of deceased and living donors is attributable to the poor awareness, cultural and religious grounds. Permanent vascular access (PVA) in paediatrics therefore, serves more as a long term treatment rather than a bridging therapy. We observed 5 children and an adolescent, all with previous indwelling catheters, who underwent arteriovenous fistula (AVF) creation and report the outcomes. The aim of this report is to determine the factors that influence the longterm patency of paediatric AVF. Factors such as body weight, vessel diameter, preoperative preparations, microsurgical technique and postoperative maintenance are discussed. In addition, considerations on the choice and timing of PVA is highlighted.

De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features.

BACKGROUND: Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues. METHODS AND RESULTS: During analysis of the VWS critical region in 95 families with an isolated cleft of the lip with or without cleft palate, we found a de novo interstitial deletion of 1q32.2-q32.3 in a patient with cleft lip and other dysmorphic features. The present case showed new proximal and distal end breakpoints compared to those previously reported. The results of a short tandem repeat analysis was confirmed using high resolution array-based comparative genomic hybridization and showed an interstitial deletion of approximately 2.98 Mb which involved 25 genes, including the entire IRF6 gene. Direct sequencing of the non-deleted allele of the IRF6 gene did not show any mutation, which supports a haploinsufficiency mechanism of the IRF6 gene in the development of the oral cleft. CONCLUSION: The present report adds to the collective knowledge that oral cleft is a major clinical feature of the 1q32.2-q32.3 deletion.

Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1.

Non-syndromic cleft lip, with or without cleft palate, is a heterogeneous, complex disease with a high incidence in the Asian population. Several association studies have been done on cleft candidate genes, but no reports have been published thus far on the Orofacial Cleft 1 (OFC1) genomic region in an Asian population. This study investigated the association between the OFC1 genomic region and non-syndromic cleft lip with or without cleft palate in 90 Malay father-mother-offspring trios. Results showed a preferential over-transmission of a 101-bp allele of marker D6S470 in the allele- and haplotype-based transmission disequilibrium test (TDT), as well as an excess of maternal transmission. However, no significant p-value was found for a maternal genotype effect in a log-linear model, although single and double doses of the 101-bp allele showed a slightly increased cleft risk (RR = 1.37, 95% CI, 0.527-3.4, p-value = 0.516). Carrying two copies of the 101-bp allele was significantly associated with an increased cleft risk (RR = 2.53, 95% CI, 1.06-6.12, p-value = 0.035). In conclusion, we report evidence of the contribution of the OFC1 genomic region to the etiology of clefts in a Malay population.