Background. The sequential organ failure assessment (SOFA) score has been recommended to triage critically ill patients in the intensive care unit (ICU). This study aimed to compare the performance of our proposed MSOFA and original SOFA scores in predicting ICU mortality. Methods. This prospective observational study was conducted on 250 patients admitted to the ICU. Both tools scores were calculated at the beginning, 24 hours of ICU admission, and 48 hours of ICU admission. Diagnostic odds ratio and receiver operating characteristic (ROC) curve were used to compare the two scores. Results. MSOFA and SOFA predicted mortality similarly with an area under the ROC curve of 0.837, 0.992, and 0.977 for MSOFA 1, MSOFA 2, and MSOFA 3, respectively, and 0.857, 0.988, and 0.988 for SOFA 1, SOFA 2, and SOFA 3, respectively. The sensitivity and specificity of MSOFA 1 in cut-off point 8 were 82.9% and 68.4%, respectively, MSOFA 2 in cut-off point 9.5 were 94.7% and 97.1%, respectively, and MSOFA 3 in cut-off point of 9.3 were 97.4% and 93.1%, respectively. There was a significant positive correlation between the MSOFA 1 and the SOFA 1 (r: 0.942), 24 hours (r: 0.972), and 48 hours (r: 0.960). Conclusion. The proposed MSOFA and the SOFA scores had high diagnostic accuracy, sensitivity, and specificity for predicting mortality.
Background: Congenital cataract (CC) is the most common reason for visual loss and blindness at birth or early childhood worldwide. The autosomal dominant (AD) inheritance is reported as the most frequent transmission pattern for CC. Connexin 46 (Cx46 coded by GJA3 gene) belongs to the gap junction proteins family which has the main function in the cell communication system of the eye lens. Methods: In the present research, whole-exome sequencing (WES) was done for proband diagnosed by CC, and Co-segregation analysis using Sanger sequencing was performed for the candidate variant on healthy and affected family members. The candidate variant was analyzed with appropriate bioinformatics software and then classified according to the ACMG guideline. Results: WES analysis of proband recognized a novel heterozygous c.146 A>C (p.Q49P) variant in the exon 2 of the GJA3 gene leading to the substitution of a highly conserved Glutamine by Proline at codon 49. The linkage of CC with this variant was observed for three generations in a proband family with AD inheritance. This variant is located on phylogenetically conserved extracellular loop E1 of protein. Extracellular loops play the main role to mediate hemichannel docking between connexons and regulating voltage gating of the channel. Conclusion: Our finding emphasized the role of Cx46 in the pathogenesis of ADCC and the extended mutation spectrum of the GJA3 gene in association with CC.
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