Individual mortality risk predictive system of patients with acute-on-chronic liver failure based on a random survival forest model.

BACKGROUND: The basis of individualized treatment should be individualized mortality risk predictive information. The present study aimed to develop an online individual mortality risk predictive tool for acute-on-chronic liver failure (ACLF) patients based on a random survival forest (RSF) algorithm. METHODS: The current study retrospectively enrolled ACLF patients from the Department of Infectious Diseases of The First People's Hospital of Foshan, Shunde Hospital of Southern Medical University, and Jiangmen Central Hospital. Two hundred seventy-six consecutive ACLF patients were included in the present study as a model cohort (n = 276). Then the current study constructed a validation cohort by drawing patients from the model dataset based on the resampling method (n = 276). The RSF algorithm was used to develop an individual prognostic model for ACLF patients. The Brier score was used to evaluate the diagnostic accuracy of prognostic models. The weighted mean rank estimation method was used to compare the differences between the areas under the time-dependent ROC curves (AUROCs) of prognostic models. RESULTS: Multivariate Cox regression identified hepatic encephalopathy (HE), age, serum sodium level, acute kidney injury (AKI), red cell distribution width (RDW), and international normalization index (INR) as independent risk factors for ACLF patients. A simplified RSF model was developed based on these previous risk factors. The AUROCs for predicting 3-, 6-, and 12-month mortality were 0.916, 0.916, and 0.905 for the RSF model and 0.872, 0.866, and 0.848 for the Cox model in the model cohort, respectively. The Brier scores were 0.119, 0.119, and 0.128 for the RSF model and 0.138, 0.146, and 0.156 for the Cox model, respectively. The nonparametric comparison suggested that the RSF model was superior to the Cox model for predicting the prognosis of ACLF patients. CONCLUSIONS: The current study developed a novel online individual mortality risk predictive tool that could predict individual mortality risk predictive curves for individual patients. Additionally, the current online individual mortality risk predictive tool could further provide predicted mortality percentages and 95% confidence intervals at user-defined time points.

[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].

OBJECTIVE: To describe clinical phenotype in a Chinese family with Best vitelliform macular dystrophy (BVMD) and to identify the mutation of the VMD2 gene in this family. METHODS: It was a retrospective case analysis. Five patients (10 eyes) were diagnosed as BVMD by the fundus photography, EOG, fluorescein angiography (FFA) and optical coherence tomography (OCT). Their clinical data were analyzed retrospectively. Molecular genetic analysis was performed on DNA extracted from peripheral leucocytes of all patients and 2 unaffected family members. Exon 1 to 11 of the VMD2 gene were amplified by polymerase chain reaction for direct sequencing. RESULTS: The pedigree showed an autosomal dominant inheritance. Ten eyes from 5 patients were classified into Stage 0, II a, II b, III and IV with different clinical manifestations. Direct sequencing of all affected members revealed a T-->G transition at codon 301, producing Asp301Glu mutation of VMD2 gene. CONCLUSIONS: Asp301Glu mutation of the VMD2 gene is found in a Chinese family with BVMD. The phenotype of BVMD in this family belongs to geographic type. Molecular genetic approach may be useful for the proper diagnosis of BVMD.

[Clinical features of Best vitelliform macular dystrophy].

OBJECTIVE: To investigate the clinical features of Best vitelliform macular dystrophy (BVMD) in Chinese patients. METHODS: Ten consecutive patients (20 eyes) were diagnosed as BVMD by the fundus photography, EOG, fluorescein angiography (FFA) and optical coherence tomography (OCT). Their clinical data were analyzed retrospectively. RESULTS: Of the twenty eyes from ten patients, three eyes from three patients (age range 9-18 years, mean 12.33+/-4.93 years) in Stage II, two eyes from two patients (age range 9-18, mean 13.50+/-6.36 years) in Stage IIa, four eyes from two patients (age range 11-29 years, mean 20.00+/-10.39 years) in Stage III and eleven from six patients (age range 9-44 years, mean 27.09+/-14.02 years) in Stage IV were found at their first presentation to our hospital. OCT scan showed the broadening of the outer-retina-choroid-complex signal with the retinal elevation in Stage II. The moderately reflective material which represents the vitelliform material may accumulate forming a conical mound that would elevate the retinal sensory layer in Stage IIa. In 'pseudohypopon' or atrophy phase there may be a large volume of serous retinal detachment. If a fibrous macular or foveal atrophy was seen in the fundus photograph, the thinning of the outer-retina-choroid-complex signal with serous retinal detachment may be shown by OCT. CONCLUSIONS: The present observation is a first study on the clinical findings of Chinese BVMD patients. It supports the hypothesis that the yellowish material is located under the RPE. Long term evaluation with more patients should be done to acknowledge more characteristics of BVMD in Chinese patients.