Objective Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM). Yet, the association between the severity of clinical findings with variants within the EFTUD2 gene has not been established. Thus, we aim to elucidate a possible genotype–phenotype correlation in MFDM. Methods Forty articles comprising 156 patients were evaluated. The genotype–phenotype correlation was analyzed using a chi-square or Fisher's exact test. Results The proportion of patients with MFDM was higher in Caucasian relative to Asian populations. Although, in general, there was no apparent genotype–phenotype correlation in patients with MFDM, Asians tended to have more severe clinical manifestations than Caucasians. In addition, cardiac abnormality presented in patients with intronic variants located in canonical splice sites was a predisposing factor in affecting MFDM severity. Conclusion Altogether, this article provides the pathogenic variants observed in EFTUD2 and possible genotype–phenotype relationships in this disease.
Background:: ISBI Practice guidelines (PGs) for burn care are designed to improve burn care in resource-limited setting (RLS) and also become the standard of burn care. Discrepancy of burn care knowledge among emergency physicians will influence the implementation of ISBI PGs. Objective: of this study is to determine the discrepancy of burn care knowledge among the general physicians working in emergency unit of public hospitals in West Nusa Tenggara, Indonesia. Method: Validated questionnaires were distributed to emergency unit of 12 hospitals in West Nusa Tenggara, Indonesia. The questionnaire consist of 9 topics regarding: (a) burn center description, (b) referral criteria, (c) complications of burn trauma, (d) initial assessment, (e) burn extent calculation, (f) initial resuscitation, (g) monitoring, (h) inhalation injury and (i) wound management. Each topic consists of 10 questions or statements regarding burn care with ISBI PGs as the reference. The score for each question was 1 or 0. Total score of each topic was 10. The total score was divided into 3 categories (low score was 0-30, moderate score was 31-60 and high score was 61-90). Result: As many as 94 questionnaires were returned out of 108 questionnaires that were distributed. As many as 78% of respondents had high knowledge score while the remaining 22% of respondents had moderate knowledge score. Conclusion: The majority of emergency physicians in West Nusa Tenggara had high knowledge level of burn care. The lowest knowledge level is on initial burn assessment and resuscitation, monitoring of burn resuscitation and burn wound management topics
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