Parental predictors of poor visual outcome with occlusion treatment for unilateral amblyopia

Aim: Visual acuity outcome of amblyopia treatment depends on the compliance. This study aimed to determine parental predictors of poor visual outcome with occlusion treatment in unilateral amblyopia and identify the relationship between occlusion recommendations and the patient's actual dose of occlusion reported by the parents. Methods: This study comprised three phases: refractive adaptation for a period of 18 weeks after spectacle correction; occlusion of 3 to 6 hours per day during a period of 6 months; questionnaire administration and completion by parents. Visual acuity as assessed using the Sheridan-Gardiner singles or Snellen acuity chart was used as a measure of visual outcome. Correlation analysis was used to describe the strength and direction of two variables: prescribed occlusion reported by the doctor and actual dose reported by parents. A logistic binary model was adjusted using the following variables: severity, vulnerability, self-efficacy, behaviour intentions, perceived efficacy and treatment barriers, parents' and childrens' age, and parents' level of education. Results: The study included 100 parents (mean age 38.9 years, SD approx 9.2) of 100 children (mean age 6.3 years, SD approx 2.4) with amblyopia. Twenty-eight percent of children had no improvement in visual acuity. The results showed a positive mild correlation (kappa = 0.54) between the prescribed occlusion and actual dose reported by parents. Three predictors for poor visual outcome with occlusion were identified: parents' level of education (OR = 9.28; 95%CI 1.32-65.41); treatment barriers (OR = 2.75; 95%CI 1.22-6.20); interaction between severity and vulnerability (OR = 3.64; 95%CI 1.21-10.93). Severity (OR = 0.07; 95%CI 0.00-0.72) and vulnerability (OR = 0.06; 95%CI 0.05-0.74) when considered in isolation were identified as protective factors. Conclusions: Parents frequently do not use the correct dosage of occlusion as recommended. Parents' educational level and awareness of treatment barriers were predictors of poor visual outcome. Lower levels of education represented a 9-times higher risk of having a poor visual outcome with occlusion treatment.

IL23R polymorphisms influence phenotype and response to therapy in patients with ulcerative colitis

Objective - We aimed to identify the clinical and genetic [IL23 receptor (IL23R) single nucleotide polymorphisms (SNPs)] predictors of response to therapy in patients with ulcerative colitis. Patients and methods - A total of 174 patients with ulcerative colitis, 99 women and 75 men, were included. The mean age of the patients was 47±15 years and the mean disease duration was 11±9 years. The number of patients classified as responders (R) or nonresponders (NR) to several therapies was as follows: 110 R and 53 NR to mesalazine (5-ASA), 28 R and 20 NR to azathioprine (AZT), 18 R and 7 NR to infliximab. Clinical and demographic variables were recorded. A total of four SNPs were studied: IL23R G1142A, C2370A, G43045A, and G9T. Genotyping was performed by real-time PCR using Taqman probes. Results - Older patients were more prone to respond to 5-ASA (P=0.004), whereas those with pancolitis were less likely to respond to such therapies (P=0.002). Patients with extraintestinal manifestations (EIMs) were less likely to respond to 5-ASA (P=0.001), AZT (P=0.03), and corticosteroids (P=0.06). Carriers of the mutant allele for IL23R SNPs had a significantly higher probability of developing EIMs (P<0.05), a higher probability of being refractory to 5-ASA (P<0.03), but a higher likelihood of responding to AZT (P=0.05). A significant synergism was observed between IL23R C2370A and EIMs with respect to nonresponse to 5-ASA (P=0.03). Conclusion - Besides extent of disease and age at disease onset, the presence of EIMs may be a marker of refractoriness to 5-ASA, corticosteroids, and AZT. IL23R SNPs are associated both with EIMs and with nonresponse to 5-ASA and corticosteroids.

Clinical and genetic factors predicting response to therapy in patients with Crohn’s disease

Aim - To identify clinical and/or genetic predictors of response to several therapies in Crohn’s disease (CD) patients. Methods - We included 242 patients with CD (133 females) aged (mean ± standard deviation) 39 ± 12 years and a disease duration of 12 ± 8 years. The single-nucleotide polymorphisms (SNPs) studied were ABCB1 C3435T and G2677T/A, IL23R G1142A, C2370A, and G9T, CASP9 C93T, Fas G670A and LgC844T, and ATG16L1 A898G. Genotyping was performed with real-time PCR with Taqman probes. Results - Older patients responded better to 5-aminosalicylic acid (5-ASA) and to azathioprine (OR 1.07, p = 0.003 and OR 1.03, p = 0.01, respectively) while younger ones responded better to biologicals (OR 0.95, p = 0.06). Previous surgery negatively influenced response to 5-ASA compounds (OR 0.25, p = 0.05), but favoured response to azathioprine (OR 2.1, p = 0.04). In respect to genetic predictors, we observed that heterozygotes for ATGL16L1 SNP had a significantly higher chance of responding to corticosteroids (OR 2.51, p = 0.04), while homozygotes for Casp9 C93T SNP had a lower chance of responding both to corticosteroids and to azathioprine (OR 0.23, p = 0.03 and OR 0.08, p = 0.02,). TT carriers of ABCB1 C3435T SNP had a higher chance of responding to azathioprine (OR 2.38, p = 0.01), while carriers of ABCB1 G2677T/A SNP, as well as responding better to azathioprine (OR 1.89, p = 0.07), had a lower chance of responding to biologicals (OR 0.31, p = 0.07), which became significant after adjusting for gender (OR 0.75, p = 0.005). Conclusions - In the present study, we were able to identify a number of clinical and genetic predictors of response to several therapies which may become of potential utility in clinical practice. These are preliminary results that need to be replicated in future pharmacogenomic studies.