117. Development of a disease severity scoring system for type I Gaucher disease

Background Gaucher’s disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity. The purpose of this study was to analyse ocular features in Spanish patients with Gaucher’s disease type I, and to investigate their possible correlation with phenotypic and burden parameters of this entity. Methods This cross-sectional observational study compared parameters belonging to 18 eyes from 9 Spanish patients with Gaucher’s disease Type I with 80 eyes from 40 healthy controls. Complete ophthalmological examination included choroidal and retinal thickness maps with swept source optical coherence tomography. Systemic analysis included genotype, plasmatic biomarkers, [ferritin, chemokine ligand 18 (CCL18) and chitotriosidase (ChT)] and severity scoring systems results [“Gaucher Disease Severity Score Index Type I" (GauSSI-I) and “Gaucher disease severity scoring system” (GD-DS3)]. Results Nine subjects (18 eyes) were cases (female: 55.5%, mean age 45 years; male: 44.5%, mean age 36 years) and 40 subjects (80 eyes) were controls (female: 49%, mean age 50 years; male: 51%, mean age 55 years). There were no statistically significant differences when comparing ocular parameters (visual acuity; axial length, refractive errors, corneal parameters, lens, retinal and choroidal thickness) between case and control subjects (p>0.05). A statistically significant moderate correlation was observed between lower retinal thickness and choroidal quadrants thickness and greater disease severity scores. A lower central retinal thickness also correlates with higher biological plasmatic levels, and has a statistically significant association with the most affected patient with genotype N370S/Del 55pb. Conversely, higher pachymetry involves a more severe plasmatic concentration of biomarkers. Conclusions Our results suggest that pachymetry, and retinal and choroidal thickness, are associated with burden biomarkers and disease severity index scores in Spanish patients with Gaucher’s disease Type I.

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A SEVERITY SCORING SYSTEM FOR OUTCOME PREDICTION IN CATS WITH PANCREATITIS

Taiwan Veterinary Journal ◽

10.1142/s1682648517500056 ◽

2017 ◽

Vol 43 (04) ◽

pp. 269-275

Author(s):

Bi-Ling Su ◽

Shu-Yu Wang ◽

Pin-Chen Liu

Keyword(s):

Disease Severity ◽

Scoring System ◽

Outcome Prediction ◽

Clinical Signs ◽

Categorical Variables ◽

Continuous Variables ◽

Laboratory Findings ◽

Severity Scoring ◽

Imaging Results ◽

The Mean

In order to develop a clinically applicable severity scoring system in cats with pancreatitis, 41 cats diagnosed with pancreatitis and hospitalized between 2011 and 2013 with their complete medical history were selected for analysis. Clinical signs, physical examination findings, laboratory findings, diagnostic imaging results, complications and concurrent diseases were analyzed to evaluate potential prognostic factors and further establish the severity scoring system. The mortality of cats selected in this study due to pancreatitis was 48.8%. Abnormalities in hemoglobin, albumin, blood urea nitrogen, total bilirubin, phosphorous and blood pressure were significantly associated with disease severity and prognosis and were selected for constructing the system. The abnormal range for each variable was further partitioned into quartiles, which were recorded into categorical variables. The weighting factors were calculated from the odds ratios (OR) between each of the quartiles and the normal range category. The area under curve (AUC) of the six continuous variables system at presentation and after rehydration of the cats was 0.873 and 0.976, respectively. The scores of 41 cats after rehydration ranged from 7 to 36 points. The mean score was [Formula: see text], the median 17 points and the mode 32 points. The optimal cut-off point for outcome prediction was 17.5 with a sensitivity of 95.2% and specificity of 95.5%. The mortality was 95% with a [Formula: see text], whereas 4.8 % had a [Formula: see text]. The severity scoring system provides a reliable and clinically applicable method to predict disease severity in cats with pancreatitis.

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