Relationship between five Epigenetic Clocks, Telomere Length and Functional Capacity assessed in Older Adults: Cross-sectional and Longitudinal Analyses

DNA methylation age acceleration (DNAmAA, derived from an epigenetic clock) and relative leukocyte telomere length (rLTL) are widely accepted biomarkers of aging. Nevertheless, it is still unclear which aspects of aging they represent best. Here we evaluated longitudinal associations between baseline rLTL and DNAmAA (estimated with 7-CpG clock) and functional assessments covering different domains of aging. Additionally, we made use of cross-sectional data on these assessments and examined their association with DNAmAA estimated by five different DNAm age measures. Two-wave longitudinal data was available for 1,083 participants of the Berlin Aging Study II (BASE-II) who were re-examined on average 7.4 years after baseline as part of the GendAge study. Functional outcomes were assessed with Fried’s frailty score, Tinetti mobility test, falls in the past 12 months (yes/no), Finger-floor distance, Mini Mental State Examination (MMSE), Center for Epidemiologic Studies Depression Scale (CES-D), Activities of Daily Living (ADL), Instrumented ADL (IADL) and Mini Nutritional Assessment (MNA). Overall, we found no evidence for an association between the molecular biomarkers measured at baseline, rLTL and DNAmAA (7-CpG clock), and functional assessments assessed at follow-up. Similarly, a cross-sectional analyses of follow-up data did also not show evidence for associations of the various DNAmAA measures (7-CpG clock, Horvath’s clock, Hannum’s clock PhenoAge, and GrimAge) with functional assessments. In conclusion, neither rLTL nor 7-CpG DNAmAA were able to predict impairment in the analyzed assessments over a ~7-year time-course. Similarly, DNAmAA estimated from five epigenetic clocks was not a good cross-sectional marker of health deterioration either.

Prevalence of Inherited Procoagulant States in Cerebral Venous Thrombosis and its Correlation with Severity and Outcome

Background Cerebral venous thrombosis (CVT) is one of the important causes of stroke in young adults. It is caused by complete or partial thrombotic occlusion of the cerebral venous sinuses or cortical veins. There are many risk factors associated with this condition, out of which common ones are oral contraceptives use, genetic, or acquired thrombophilias, infections, malignancy, pregnancy, and puerperium. We aimed to study the prevalence of inherited procoagulant states in patients with CVT and correlate these states with the severity and outcome. Materials and Methods It was a prospective observational study of 2 years duration in which 75 patients, 18 to 50 years old, with confirmed CVT were included. The baseline data, imaging findings were recorded for all the patients. After 3 months of the onset of CVT, anticoagulants were stopped and a procoagulant test was done for all patients. Severity was assessed by Glasgow Coma Score (GCS) at the onset of illness. Functional assessments were done using the modified Rankin Scale (mRS) at presentation, at 7 days, 6 weeks, and 3 months. Results In the present study, any procoagulant state was seen in 9 out of 75 patients with CVT that accounted for 12% of the total population. There was no significant correlation between the presence of procoagulant states and severity of illness as assessed by GCS at presentation. The presence of any thrombophilia did not affect the final outcome at 7 days, 6 weeks or 3 months (p = 0.532, p = 0.944 and p = 0.965 respectively) as assessed by modified Rankin Scale (mRS). Conclusion Inherited procoagulant states are an important risk factor for CVT. The presence of an inherited procoagulant state does not have any correlation with the disease severity and outcome.

Comparison between rigid and soft poly-articulated prosthetic hands in non-expert myo-electric users shows advantages of soft robotics

Notwithstanding the advancement of modern bionic hands and the large variety of prosthetic hands in the market, commercial devices still present limited acceptance and percentage of daily use. While commercial prostheses present rigid mechanical structures, emerging trends in the design of robotic hands are moving towards soft technologies. Although this approach is inspired by nature and could be promising for prosthetic applications, there is scant literature concerning its benefits for end-users and in real-life scenarios. In this work, we evaluate and assess the role and the benefits of soft robotic technologies in the field of prosthetics. We propose a thorough comparison between rigid and soft characteristics of two poly-articulated hands in 5 non-expert myo-electric prosthesis users in pre- and post-therapeutic training conditions. The protocol includes two standard functional assessments, three surveys for user-perception, and three customized tests to evaluate the sense of embodiment. Results highlight that rigid hands provide a more precise grasp, while soft properties show higher functionalities thanks to their adaptability to different requirements, intuitive use and more natural execution of activities of daily living. This comprehensive evaluation suggests that softness could also promote a quick integration of the system in non-expert users.

Technology Innovations in Dementia Care: Improvements in Functional Assessments Through Background Sensing

Technological innovations are becoming commonplace in research among persons living with dementia (PLWD) and their caregivers. However, few studies attempt to validate technology’s ability to appropriately monitor functional assessment in dementia care research. Bringing together industry, academia, and health care, we demonstrate the feasibility of using a novel in-situ sensor system to continuously and accurately assess daily functions for PWLDs in home or assisted care settings. Phase1 revealed a high accuracy (~85%) of detecting and classifying ADLs between sensors and human loggers across 26 defined activities. Phase 2, which will target 140 PLWDs, has already demonstrated the value of such sensors in detecting safety concerns (e.g., no heat). Technology-driven research for PLWD and their caregivers have practical applications for assessing diverse forms of functional assessment and environmental conditions which can improve measurement precision over time and space and the ability to better tailor care plans for PLWDs and their caregivers.

A Novel Approach Towards Less Invasive Multi ‘Omics Gut Analyses: A Pilot Study

Newer ‘omics approaches such as metatranscriptomics and metabolomics allow functional assessments of the interaction(s) between the gut microbiome and the human host. In order to generate meaningful data with these approaches, though, the method of sample collection is critical. Prior studies have relied upon expensive and invasive means towards sample acquisition such as intestinal biopsy, while other studies have relied upon easier methods of collection such as fecal samples that do not necessarily represent those microbes in contact with the host. In this pilot study, we attempt to characterize a novel, minimally invasive method towards sampling the human microbiome using mucosal cytology brush sampling compared to intestinal gut biopsy on 5 healthy participants undergoing routine screening colonoscopy. We compared metatranscriptomic analyses between the two collection methods, identifying increased taxonomic evenness and beta diversity in the cytology brush samples, and similar community transcriptional profiles between the two methods. Metabolomics assessment demonstrated striking differences between the two methods, implying a difference in bacterial-derived versus human absorbed metabolites. Put together, this study supports the use of a less invasive method of microbiome sampling with cytology brushes, but caution must be exercised when performing metabolomics assessment as this represents differential metabolite production but not absorption by the host.

Functional evaluation in inherited retinal disease

Functional assessments are a fundamental part of the clinical evaluation of patients with inherited retinal diseases (IRDs). Their importance and impact have become increasingly notable, given the significant breadth and number of clinical trials and studies investigating multiple avenues of intervention across a wide range of IRDs, including gene, pharmacological and cellular therapies. Moreover, the fact that many clinical trials are reporting improvements in vision, rather than the previously anticipated structural stability/slowing of degeneration, makes functional evaluation of primary relevance. In this review, we will describe a range of methods employed to characterise retinal function and functional vision, beginning with tests variably included in the clinic, such as visual acuity, electrophysiological assessment and colour discrimination, and then discussing assessments often reserved for clinical trials/research studies such as photoaversion testing, full-field static perimetry and microperimetry, and vision-guided mobility testing; addressing perimetry in greatest detail, given it is commonly a primary outcome metric. We will focus on how these tests can help diagnose and monitor particular genotypes, also noting their limitations/challenges and exploring analytical methodologies for better exploiting functional measurements, as well as how they facilitate patient inclusion and stratification in clinical trials and serve as outcome measures.

Myocardial Viability, Functional Status, and Collaterals of Patients With Chronically Occluded Coronary Arteries

Objective: Viability and functional assessments are recommended for indication and intervention for chronic coronary total occlusion (CTO). We aimed to evaluate myocardial viability and left ventricular (LV) functional status by using cardiovascular magnetic resonance (CMR) and to investigate the relationship between them and collaterals in patients with CTO.Materials and Methods: We enrolled 194 patients with one CTO artery as detected by coronary angiography. Patients were scheduled for CMR within 1 week after coronary angiography.Results: A total of 128 CTO territories (66%) showed scar based on late gadolinium enhancement (LGE) imaging. There were 1,112 segments in CTO territory, while only 198 segments (18%) subtended by the CTO artery showed transmural scar (i.e., >50% extent on LGE). Patients with viable myocardium had higher LV ejection fraction (LVEF) (56.7 ± 13.5% vs. 48.3 ± 15.4%, p < 0.001) than those with transmural scar. Angiographically, well-developed collaterals were found in 164 patients (85%). There was no significant correlation between collaterals and the presence of myocardial scar (p = 0.680) or between collaterals and LVEF (p = 0.191). Nevertheless, more segments with transmural scar were observed in patients with poorly-developed collaterals than in those with well-developed collaterals (25 vs. 17%, p = 0.010).Conclusion: Myocardial infarction detected by CMR is widespread among patients with CMO, yet only a bit of transmural myocardial scar was observed within CTO territory. Limited number of segments with transmural scar is associated with preserved LV function. Well-developed collaterals are not related to the prevalence of myocardial scar or systolic functioning, but could be related to reduce number of non-viable segments subtended by the CTO artery.