Lancasterjensby2334

Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.

Patterns of failure following definitive CRT (dCRT) are different as compared to neoadjuvant chemoradiotherapy (NACRT) with increased locoregional failures documented with dCRT.

To document failure patterns in patients with esophageal carcinoma treated with neoadjuvant and definitive intent radiation strategies.

Subjects were 123 patients treated with two chemoradiotherapy strategies. Group 1 (n = 99) underwent dose escalated definitive chemoradiotherapy (dCRT), Group 2 (n = 24) received neoadjuvant chemoradiotherapy (NACRT) followed by surgery. Cumulative incidence of locoregional failure (LRF), local failure (LF), regional lymph node failure (RLNF), and distant metastasis (DM) were computed; differences between the groups was evaluated using log rank test. Univariable and multivariable predictors of failure were identified using Cox regression analysis.

Cumulative LRF 64% in Group 1 vs 35% in Group 2 (P = .050). Cumulative LF 59% in Group 1 vs 12% in Group 2 (P = .000). DLinKC2DMA Cumulative RLNF 30% in Group rrent chemotherapy is a predictor of LRF and DM in dCRT.

LRF is common in both groups, with LF being predominant in dCRT as opposed to RNLF in NACRT. Age ≤50, absence of concurrent chemotherapy is a predictor of LRF and DM in dCRT.

To develop and validate a feasible predictive model for early surfactant treatment in very preterm infants (VPI) admitted with respiratory distress syndrome (RDS).

Preterm infants less than 32 weeks of gestation with RDS and stabilized with noninvasive ventilation in delivery room were recruited (January 2018-April 2020). Clinical data, chest X-ray (CXR) score, respiratory support, oxygen saturation/fraction of inspired oxygen ratio (SF ratio), lung ultrasound (LUS) score, and diaphragmatic thickening fraction (DTF) were recorded at 60-120 min of life. Oxygen threshold for surfactant administration was fraction of inspired oxygen more than 30%; ultrasound findings were blinded. Logistic regression models using a stepwise selection of variables were developed in the derivation cohort. Coefficients from these models were applied to the validation cohort and a diagnostic performance was calculated.

A total of 144 VPI with a mean gestational age of 28.7 ± 2.2 weeks were included (94 into the derivation cohort, 50 into the validation cohort); 37 required surfactant treatment (25.7%). Gestational age, SF ratio, LUS score, CXR score, and Silverman score were related to surfactant administration (R

 = .823). Predictors included in the final model for surfactant administration were SF ratio and LUS score (R

 = .783) with an area under the receiver operating characteristic (AUC) = 0.97 (95% confidence interval [CI] 0.93-1.00) in the derivation cohort and an AUC = 0.95 (95% CI 0.85-0.99) in the validation cohort. By applying our predictive model, 26 patients (70.2%) would have been treated with surfactant earlier than 2 h of life.

The predictive model showed a high diagnostic performance and could be of value to optimize early respiratory management in VPI with RDS.

The predictive model showed a high diagnostic performance and could be of value to optimize early respiratory management in VPI with RDS.

Inter-seasonal influenza cases have been increasing in Australia. Studies of influenza seasonality typically focus on seasonal transmission in temperate regions, leaving our understanding of inter-seasonal epidemiology limited. We aimed to improve understanding of influenza epidemiology during inter-seasonal periods across climate zones, and explored influenza intensity and strain dominance patterns over time.

Queensland state-wide laboratory-confirmed influenza notifications and public laboratory influenza test data from 2009-2019 were described by demographics, time period, region and strain type. We compared influenza intensity over time using the WHO Average Curve method to provide thresholds for seasonal and inter-seasonal periods.

Among the 243830 influenza notifications and 490772 laboratory tests reported in Queensland between 2009 and 2019, 15% of notifications and 40% of tests occurred during inter-seasonal periods, with 6.3% of inter-seasonal tests positive. Inter-seasonal notifications and tst this increase results from an interplay between testing, activity and intensity, and strain circulation. Seasonal intensity and strain circulation appeared to modify subsequent period intensity. Routine year-round surveillance data would provide a better understanding of influenza epidemiology during this infrequently studied inter-seasonal time period.

Hydroxychloroquine (HCQ) is a key systemic lupus (SLE) drug, making concerns of drug shortages grave. We evaluated factors associated with poor outcomes after HCQ taper or discontinuation in SLE.

We studied five Canadian SLE cohorts between 1999-2019, following patients from date of HCQ tapering (cohort 1) or discontinuation (cohort 2). A composite outcome was defined as any of the following need for therapy augmentation, increase (of at least 4 points) in SLEDAI-2K, or hospitalization for SLE. In each cohort, multivariable Cox regression was used to identify demographic and clinical factors associated with time to the earliest of these events. A third cohort remaining on HCQ was also studied, to assess if the same factors influenced the outcome even when HCQ dose was unchanged.

The poor outcome rate, per 100 person-years, was 35.7 (95% CI 31.6, 40.3) in the HCQ taper cohort (N=398), 29.0 (95% CI 25.5, 33.0) in the discontinuation cohort (N=395), and 16.1 (95%CI 13.2, 19.6) in the maintenance cohort (N=395).