Melanosome Maturation Defects in TYROSINASE Deficient Human Retinal Pigment Epithelium

Purpose Oculocutaneous albinism type 1A (OCA1A) = recessive genetic condition caused by mutations in TYROSINASE Created in vitro disease model for OCA1A using human induced pluripotent stem cell (iPSC) derived retinal pigment epithelium (RPE) Role of autophagy (Fig. 2) in melanosome degradation and melanosomal trafficking Aim to investigate whether loss of melanosomes in OCA1A-iRPE might impact autophagyhttps://jdc.jefferson.edu/aoa_research_symposium_posters/1002/thumbnail.jp

Animal lameness detection with radar sensing

Lameness is a significant problem for performance horses and farmed animals, with severe impact on animal welfare and treatment costs. Lameness is commonly diagnosed through subjective scoring methods performed by trained veterinary clinicians, but automatic methods using suitable sensors would improve efficiency and reliability. In this paper, we propose the use of radar micro-Doppler signatures for contactless and automatic identification of lameness, and present preliminary results for dairy cows, sheep, and horses. These proof-of-concept results are promising, with classification accuracy above 85% for dairy cows, around 92% for horses, and close to 99% for sheep

Quality assurance and quality improvement using supportive supervision in a large-scale STI intervention with sex workers, men who have sex with men/transgenders and injecting-drug users in India

Background: Documentation of the long-term impact of supportive supervision using a monitoring tool in STI intervention with sex workers, men who have sex with men and injection-drug users is limited. The authors report methods and results of continued quality monitoring in a large-scale STI services provided as a part of a broader HIV-prevention package in six Indian states under Avahan, the India AIDS Initiative. Methodology: Guidelines and standards for STI services, and a supportive supervisory tool to monitor the quality were developed for providing technical support to STI component of large-scale HIV-prevention intervention through 372 project-supported STI clinics. The tool contained 80 questions to track the quality of STI services provided on a five-point scoring scale in five performance areas: coverage, quality of clinic and services, referral networks, community involvement and technical support. Results: The tool was applied to different STI clinics during supportive supervision visits conducted once in every 3 months to assess quality, give immediate feedback and develop a quality score. A total of 292 clinics managed by seven lead implementing partners in six Indian states were covered in 15 quarters over 45 months. Overall quality indicators for the five performance areas showed a three- to sevenfold improvement over the period. Conclusion: It was possible to improve quality over the long-term in STI interventions for sex workers, men who have sex with men and injection-drug users using an interactive and comprehensive supportive supervision tool which gives on-the-spot feedback. However, such an effort is time-consuming and resource-intensive, and needs a structured approach

Artificial intelligence-based preventive, personalized and precision medicine for cardiovascular disease/stroke risk assessment in rheumatoid arthritis patients: a narrative review

The challenges associated with diagnosing and treating cardiovascular disease (CVD)/Stroke in Rheumatoid arthritis (RA) arise from the delayed onset of symptoms. Existing clinical risk scores are inadequate in predicting cardiac events, and conventional risk factors alone do not accurately classify many individuals at risk. Several CVD biomarkers consider the multiple pathways involved in the development of atherosclerosis, which is the primary cause of CVD/Stroke in RA. To enhance the accuracy of CVD/Stroke risk assessment in the RA framework, a proposed approach involves combining genomic-based biomarkers (GBBM) derived from plasma and/or serum samples with innovative non-invasive radiomic-based biomarkers (RBBM), such as measurements of synovial fluid, plaque area, and plaque burden. This review presents two hypotheses: (i) RBBM and GBBM biomarkers exhibit a significant correlation and can precisely detect the severity of CVD/Stroke in RA patients. (ii) Artificial Intelligence (AI)-based preventive, precision, and personalized (aiP3) CVD/Stroke risk AtheroEdge™ model (AtheroPoint™, CA, USA) that utilizes deep learning (DL) to accurately classify the risk of CVD/stroke in RA framework. The authors conducted a comprehensive search using the PRISMA technique, identifying 153 studies that assessed the features/biomarkers of RBBM and GBBM for CVD/Stroke. The study demonstrates how DL models can be integrated into the AtheroEdge™–aiP3 framework to determine the risk of CVD/Stroke in RA patients. The findings of this review suggest that the combination of RBBM with GBBM introduces a new dimension to the assessment of CVD/Stroke risk in the RA framework. Synovial fluid levels that are higher than normal lead to an increase in the plaque burden. Additionally, the review provides recommendations for novel, unbiased, and pruned DL algorithms that can predict CVD/Stroke risk within a RA framework that is preventive, precise, and personalized. © 2023, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature

The impact of a horse riding intervention on the social functioning of children with autism spectrum disorder

This paper reports a case-control study of a horse riding intervention for children with autism spectrum disorder (ASD). A sample of 26 children, aged 6 to 9 years, were assigned to either the intervention (n = 12) or control group conditions (n = 14). Pre- and post-tests were carried out using the Childhood Autism Rating Scale, Second Edition (CARS2) and the Aberrant Behaviour Checklist-Community Edition (ABC-C). An observational measure of compliance and behaviour during the horse riding sessions was completed for the intervention group. There was a significant reduction in the severity of ASD symptoms and hyperactivity from pre- to post-test for the intervention group only. These results indicate that the intervention improves some aspects of social functioning for children with ASD

AMPK Modulation Ameliorates Dominant Disease Phenotypes of CTRP5 Variant in Retinal Degeneration

Late-onset retinal degeneration (L-ORD) is an autosomal dominant disorder caused by a missense substitution in CTRP5. Distinctive clinical features include sub-retinal pigment epithelium (RPE) deposits, choroidal neovascularization, and RPE atrophy. In induced pluripotent stem cells-derived RPE from L-ORD patients (L-ORD-iRPE), we show that the dominant pathogenic CTRP5 variant leads to reduced CTRP5 secretion. In silico modeling suggests lower binding of mutant CTRP5 to adiponectin receptor 1 (ADIPOR1). Downstream of ADIPOR1 sustained activation of AMPK renders it insensitive to changes in AMP/ATP ratio resulting in defective lipid metabolism, reduced Neuroprotectin D1(NPD1) secretion, lower mitochondrial respiration, and reduced ATP production. These metabolic defects result in accumulation of sub-RPE deposits and leave L-ORD-iRPE susceptible to dedifferentiation. Gene augmentation of L-ORD-iRPE with WT CTRP5 or modulation of AMPK, by metformin, re-sensitize L-ORD-iRPE to changes in cellular energy status alleviating the disease cellular phenotypes. Our data suggests a mechanism for the dominant behavior of CTRP5 mutation and provides potential treatment strategies for L-ORD patients. © 2021, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply