Retinal Imaging Findings in Inherited Retinal Diseases.

Inherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic characterization of this group of diseases and have facilitated phenotype-to-genotype correlation studies. As a result, the number of clinical trials targeting IRDs has steadily increased, and commensurate to this, the need for novel reproducible outcome measures and endpoints has grown. This review aims to summarize and describe the clinical presentation, characteristic imaging findings, and imaging endpoint measures that are being used in clinical research on IRDs. For the purpose of this review, IRDs have been divided into four categories: (1) panretinal pigmentary retinopathies affecting rods or cones; (2) macular dystrophies; (3) stationary conditions; (4) hereditary vitreoretinopathies.

Sex Differences in Age of Diagnosis, HLA Genotype, and Autoantibody Profile in Children With Type 1 Diabetes.

OBJECTIVE: To examine sex differences in children with newly diagnosed type 1 diabetes (T1D) with respect to age at diagnosis, presence of autoantibodies (GAD antibody [GADA], insulinoma-associated protein 2 [IA-2A], insulin autoantibody [IAA], and zinc transporter 8 autoantibody), and HLA risk. RESEARCH DESIGN AND METHODS: A population-based nationwide sample of 3,645 Swedish children at T1D diagnosis was used. RESULTS: Girls were younger at T1D diagnosis (9.53 vs. 10.23 years; P < 0.001), more likely to be autoantibody-positive (94.7% vs. 92.0%; P = 0.002), more often positive for multiple autoantibodies (P < 0.001), more likely to be positive for GADA (64.9% vs. 49.0%; P < 0.001), and less likely to be positive for IAA (32.3% vs. 33.8%; P = 0.016). Small sex differences in HLA risk were found in children <9 years of age. CONCLUSIONS: The disease mechanisms leading to T1D may influence the immune system differently in girls and boys.

Fractal analysis of the macular region in healthy eyes using swept-source optical coherence tomography angiography.

PURPOSE: This cross-sectional observational study evaluated the relationship between retinal vascular fractal dimension (FD) and age, as well as other vascular parameters in healthy eyes using swept-source optical coherence tomography angiography (SS-OCTA). METHODS: The study cohort consisted of 222 eyes of 116 healthy participants with no ocular or systemic disease. SS-OCTA images were captured and analyzed using the Plex Elite 9000 and software tools available in the advanced retinal imaging (ARI) network hub. The retinal vascular layers were defined by the instrument's automatic retinal layer segmentation. The fractal analysis was performed on the superficial capillary plexus (SCP), deep capillary plexus (DCP), and the whole retina. Grayscale OCTA images were standardized and binarized using ImageJ and fractal box-counting analyses were performed using Fractalyse software. Pearson's correlation was used to analyze the correlation between FD and retinal vascular parameters. RESULTS: The results showed that FD values were significantly higher in the 6 mm ring and the whole 6 × 6 scan region when compared to the 1 mm ETDRS central subfield. The correlation between age and FD was weak with a significant positive correlation between age and FD of the SCP in the 6 mm ring and between age and FD of the DCP in the 1 mm ring. Overall, differences in FD values in these healthy eyes were extremely small regardless of age or macular location. CONCLUSION: FD values in normal eyes show little variation with age and are relatively stable across the macula. This suggests that FD values may not need adjustment for age or location when evaluated in the context of retinal disease.

The Impact of Parental Diabetes on the Prevalence of Childhood Obesity.

Background: Obesity among children and adolescents is a worldwide public health concern. Type 1 diabetes (T1D) and type 2 diabetes (T2D) incidence are increasing, with heredity and socioeconomic status as possible risk factors. How these factors affect the risk of childhood obesity remains unclear. The aim of this study was to investigate the association between obesity and parental diabetes among 12-year-olds in Sweden, and how it relates to parental education level. Methods: We used data collected within the Exploring the Iceberg of Celiacs in Sweden (ETICS) study, a cross-sectional multicenter national screening study for celiac disease in 12-year-old children. Relative risk (RR) and confidence interval (CI) were calculated for the association between parental diabetes and obesity, also stratifying for gender and highest parental education. Results: Among 11,050 children, for both children with parental T1D and T2D, 31% of the children were overweight or obese, compared with 21% among other children. Comparing those with parental T1D with those without parental T1D within gender, boys had a statistically significant higher risk [RR 1.6 (95% CI 1.3-2.0)], and girls had a nonsignificant increased risk [RR 1.3 (95% CI 0.95-1.8)], of being overweight. For children with parental T2D, both boys and girls had a statistically significant increased risk of 1.5. Parental education showed no sign of influencing the RRs. Conclusions: Parental diabetes is associated with an increased risk of overweight among children, independent of parental education. Concomitant parental diabetes and overweight should be particularly alarming criteria when prioritizing preventive interventions at an early age.

Statin use and breast cancer survival - a Swedish nationwide study.

BACKGROUND: A sizeable body of evidence suggests that statins can cease breast cancer progression and prevent breast cancer recurrence. The latest studies have, however, not been supportive of such clinically beneficial effects. These discrepancies may be explained by insufficient power. This considerably sized study investigates the association between both pre- and post-diagnostic statin use and breast cancer outcome. METHODS: A Swedish nation-wide retrospective cohort study of 20,559 Swedish women diagnosed with breast cancer (July 1st, 2005 through 2008). Dispensed statin medication was identified through the Swedish Prescription Registry. Breast cancer related death information was obtained from the national cause-of-death registry until December 31st, 2012. Cox regression models yielded hazard ratios (HR) and 95% confidence intervals (CI) regarding associations between statin use and breast cancer-specific and overall mortality. RESULTS: During a median follow-up time of 61.6 months, a total of 4678 patients died, of which 2669 were considered breast cancer related deaths. Compared to non- or irregular use, regular pre-diagnostic statin use was associated with lower risk of breast cancer related deaths (HR = 0.77; 95% CI 0.63-0.95, P = 0.014). Similarly, post-diagnostic statin use compared to non-use was associated with lower risk of breast cancer related deaths (HR = 0.83; 95% CI 0.75-0.93, P = 0.001). CONCLUSION: This study supports the notion that statin use is protective regarding breast cancer related mortality in agreement with previous Scandinavian studies, although less so with studies in other populations. These disparities should be further investigated to pave the way for future randomized clinical trials investigating the role of statins in breast cancer.