ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in ELMO2 was identified, suggesting that this gene may be the causative for this syndrome. ELMO2 biallelic pathogenic variants were also described in patients with a primary intraosseous vascular malformation (PIVM; OMIM #606893). These patients presented gingival bleeding and cherubism phenotype. Herein, a patient with gingival hypertrophy, neurodevelopmental delay, and cherubism phenotype with a novel homozygous predicted loss-of-function (LOF) variant in the ELMO2 gene and family recurrence was reported. A surgical approach to treat gingival bleeding and mandible vascular malformation was also described. Furthermore, this study includes a comprehensive literature review of molecular data regarding the ELMO2 gene. All the variants, except one described in the ELMO2, were predicted as LOF, including our patient's variant. There is an overlapping between PIVM, also caused by LOF biallelic variants in the ELMO2 gene, and Ramon syndrome, which can suggest that they are not different entities. However, due to a limited number of cases described with molecular evaluation, it is hard to establish a genotype-phenotype correlation. Our study supports that LOF pathogenic biallelic variants in the ELMO2 gene cause a phenotype that has cherubism and gingival hypertrophy as main characteristics.

Night admission is an independent risk factor for mortality in trauma patients - a systemic error approach.

OBJECTIVE: to assess the impact of the shift inlet trauma patients, who underwent surgery, in-hospital mortality. METHODS: a retrospective observational cohort study from November 2011 to March 2012, with data collected through electronic medical records. The following variables were statistically analyzed: age, gender, city of origin, marital status, admission to the risk classification (based on the Manchester Protocol), degree of contamination, time / admission round, admission day and hospital outcome. RESULTS: during the study period, 563 patients injured victims underwent surgery, with a mean age of 35.5 years (± 20.7), 422 (75%) were male, with 276 (49.9%) received in the night shift and 205 (36.4%) on weekends. Patients admitted at night and on weekends had higher mortality [19 (6.9%) vs. 6 (2.2%), p=0.014, and 11 (5.4%) vs. 14 (3.9%), p=0.014, respectively]. In the multivariate analysis, independent predictors of mortality were the night admission (OR 3.15), the red risk classification (OR 4.87), and age (OR 1.17). CONCLUSION: the admission of night shift and weekend patients was associated with more severe and presented higher mortality rate. Admission to the night shift was an independent factor of surgical mortality in trauma patients, along with the red risk classification and age.

Night admission is an independent risk factor for mortality in trauma patients - a systemic error approach / Admissão noturna é fator de risco independente para mortalidade em pacientes vítimas de trauma - uma abordagem ao erro sistêmico

ABSTRACTObjective:to assess the impact of the shift inlet trauma patients, who underwent surgery, in-hospital mortality.Methods:a retrospective observational cohort study from November 2011 to March 2012, with data collected through electronic medical records. The following variables were statistically analyzed: age, gender, city of origin, marital status, admission to the risk classification (based on the Manchester Protocol), degree of contamination, time / admission round, admission day and hospital outcome.Results:during the study period, 563 patients injured victims underwent surgery, with a mean age of 35.5 years (± 20.7), 422 (75%) were male, with 276 (49.9%) received in the night shift and 205 (36.4%) on weekends. Patients admitted at night and on weekends had higher mortality [19 (6.9%) vs. 6 (2.2%), p=0.014, and 11 (5.4%) vs. 14 (3.9%), p=0.014, respectively]. In the multivariate analysis, independent predictors of mortality were the night admission (OR 3.15), the red risk classification (OR 4.87), and age (OR 1.17).Conclusion:the admission of night shift and weekend patients was associated with more severe and presented higher mortality rate. Admission to the night shift was an independent factor of surgical mortality in trauma patients, along with the red risk classification and age.

RESUMOObjetivo:verificar o impacto do turno de admissão de pacientes vítimas de trauma, submetidos ao tratamento cirúrgico, na mortalidade hospitalar.Métodos:estudo de coorte observacional retrospectivo no período de novembro de 2011 a março de 2012, com dados coletados através de prontuário eletrônico. Foram analisadas estatisticamente as variáveis de interesse: idade, sexo, cidade de origem, estado civil, classificação de risco à admissão (baseado no Protocolo de Manchester), grau de contaminação, horário/turno de admissão, dia de admissão e desfecho hospitalar.Resultados: Quinhentos e sessenta e três pacientes traumatizados foram submetidos ao tratamento cirúrgico no período estudado, com média de idade de 35,5 anos (± 20,7), sendo 75% do sexo masculino, 49,9% admitidos no turno noturno e 36,4% aos finais de semana. Os pacientes admitidos à noite e aos finais de semana apresentaram maior mortalidade, 6,9% vs. 2,2%, p=0,014, e 5,4% vs. 3,9%, p=0,014, respectivamente. À análise multivariada, os fatores preditores independentes de mortalidade foram a admissão noturna (OR 3,15), a classificação de risco vermelho (OR 4,87), e a idade (OR 1,17).Conclusão:a admissão no turno noturno e no final de semana foi associada com pacientes de maior gravidade e apresentaram maior taxa de mortalidade. A admissão no turno noturno foi fator independente de mortalidade em pacientes traumatizados cirúrgicos, juntamente com a classificação de risco vermelho e a idade.