Introduction
MODY probability calculator (MPC) represents an easy‐to‐use tool developed by Exeter University to help clinicians prioritize which individuals should be oriented to genetic testing. We aimed to assess the utility of MPC in a Portuguese cohort with early‐onset monogenic diabetes.
Methods
This single‐centre retrospective study enrolled 132 participants submitted to genetic testing between 2015 and 2020. Automatic sequencing and, in case of initial negative results, generation sequencing were performed. MODY probability was calculated using the probability calculator available online. Positive and negative predictive values (PPV and NPV, respectively), accuracy, sensitivity and specificity of the calculator were determined for this cohort.
Results
Seventy‐three individuals were included according to inclusion criteria: 20 glucokinase (GCK‐MODY); 16 hepatocyte nuclear factor 1A (HNF1A‐MODY); 2 hepatocyte nuclear factor 4A (HNF4A‐MODY) and 35 DM individuals with no monogenic mutations found. The median probability score of MODY was significantly higher in monogenic diabetes‐positive subgroup (75.5% vs. 24.2%, p < .001). The discriminative accuracy of the calculator, as expressed by area under the curve, was 75% (95% CI: 64%–85%). In our cohort, the best cut‐off value for the MODY calculator was found to be 36%, with a PPV of 74.4%, NPV of 73.5% and corresponding sensitivity and specificity of 76.2% and 71.4%, respectively.
Conclusions
In a highly pre‐selected group of probands qualified for genetic testing, the Exeter MODY probability calculator provided a useful tool in individuals' selection for genetic testing, with good discrimination ability under an optimal probability cut‐off of 36%. Further geographical and population adjustments are warranted for general use.
Haematocrit has been studied as an outcome predictor. The aim of this study was to evaluate the correlation between low haematocrit at surgical intensive care unit admission and high disease scoring system score and early outcomes. Material and Methods: This retrospective study included 4398 patients admitted to the surgical intensive care unit between January 2006 and July 2013. Acute physiology and chronic health evaluation and simplified acute physiology score II values were calculated and all variables entered as parameters were evaluated independently. Patients were classified as haematocrit if they had a haematocrit < 30% at surgical intensive care unit admission. The correlation between admission haematocrit and outcome was evaluated by univariate analysis and linear regression.Results: A total of 1126 (25.6%) patients had haematocrit. These patients had higher rates of major cardiac events (4% vs 1.9%, p < 0.001), acute renal failure (11.5% vs 4.7%, p < 0.001), and mortality during surgical intensive care unit stay (3% vs 0.8%, p < 0.001) and hospital stay (12% vs 5.9%, p < 0.001). Discussion: A haematocrit level < 30% at surgical intensive care unit admission was frequent and appears to be a predictor for poorer outcome in critical surgical patients.
Conclusion:Patients with haematocrit had longer surgical intensive care unit and hospital stay lengths, more postoperative complications, and higher surgical intensive care unit and hospital mortality rates.
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