scholarly journals Pilot Study on Genetic Associations With Age-Related Sarcopenia

2021 ◽  
Vol 11 ◽  
Author(s):  
Felicita Urzi ◽  
Boštjan Pokorny ◽  
Elena Buzan

Despite strong evidence of an inheritable component of muscle phenotypes, little progress has been made in identifying the specific genetic factors involved in the development of sarcopenia. Even rarer are studies that focus on predicting the risk of sarcopenia based on a genetic risk score. In the present study, we tested the single and combined effect of seven candidate gene variants on the risk of sarcopenia. Single nucleotide polymorphisms in candidate genes were genotyped using the KASP assay. We examined 190 older adults that were classified as non-sarcopenic or sarcopenic according to the diagnostic criteria of the European Working Group on Sarcopenia in Older People. Sarcopenia was associated with Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 genotypes. The combined effect of all three polymorphisms explained 39% of the interindividual variation in sarcopenia risk. Our results suggest that the single and combined effect of Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 polymorphism is associated with sarcopenia risk in older adults. Nowadays, as the population is getting older and older, great efforts are being made to research the etiology, diagnosis and treatment of sarcopenia. At the same time, small progress has been made in understanding the genetic etiology of sarcopenia. Given the importance of research on this disease, further genetic studies are needed to better understand the genetic risk underlying sarcopenia. We believe that this small-scale study will help to demonstrate that there is still much to be discovered in this field.

2020 ◽  
Vol 32 (S1) ◽  
pp. 15-16
Author(s):  
William E. Reichman ◽  
L. Bradford Perkins ◽  
Hilde Verbeek

This symposium will review the latest data on the influence of environmental design and its attributes on the cognitive and psychological wellbeing of older adults living with dementia. The presenters will cover the myriad ways in which the physical environment of care can adapt to the changing demands of older adults with sensory, motor and cognitive deficits and foster optimal functioning and quality of life. The role of emerging technologies will also be reviewed as they complement the contribution of the design of the physical environment to the wellbeing of older adults with cognitive impairment. Information will be offered through a review of the existing research literature as well as case studies that illustrate the impact of environmental modification on fostering wellbeing and minimizing the emergence of the behavioral and psychological symptoms of dementia. The presenters will represent and integrate sensibilities that have emerged from the fields of architecture, cognitive neuroscience and psychology.How the Principles of the Culture Change Movement Inform Environmental Design and the Application of Technology in the Care of Older Adults Living with DementiaWilliam E. ReichmanThe culture change movement informs a number of principles that have been applied to more contemporary design concepts for the congregate care of older adults living with dementia. This talk will review the core tenets of the Culture Change Movement as exemplified by the Greenhouse, Dementia Village and other innovative models of congregate long-term care. Specific reference will be made to how these tenets have been operationalized around the world into the design of programming and the creation of residential care environments that foster a better quality of life for older adults and an enhanced work environment for care providers. This talk will also include the emerging role of technologies that complement innovative design of the environment and which foster optimized social and recreational functioning of older adults living with dementia.A Better Life Through a Better Nursing Home DesignL. Bradford PerkinsOver the last 20 years there has been extensive experimentation related to the role of the environment in the housing, care and treatment of persons with Alzheimer’s and other age related dementias. Prior to that time the typical housing and care environment was a locked unit in a skilled nursing or other restrictive senior living facility. In 1991 the Presbyterian Association on Aging in Western Pennsylvania opened Woodside Place on its Oakmont campus. This small 36 bed facility was designed to incorporate the latest research and care experience with persons suffering from these issues. This one small project, as well as the long post occupancy research led by Carnegie Mellon University, clearly demonstrated that individuals with Alzheimer’s and related forms of dementia could lead a healthier, happier, higher quality of life in a more residential, less restrictive environment. Not everything in this pioneering project worked, and five generations of living and care models have followed that have refined the ideas first demonstrated by Woodside Place. Bradford Perkins, whose firm designed Woodside Place and over 100 other related projects, will discuss what was learned from Woodside Place as well as the five generations of projects (and post occupancy research) that followed.Innovative dementia care environments as alternatives for traditional nursing homes: evidence and experiences from the NetherlandsHilde VerbeekKey goals of the dementia care environment focus on increasing autonomy, supporting independence and trying to enable one’s own lifestyle for as long as possible. To meet these goals, innovative, small-scale and homelike care environments have been developed that have radically changed the physical, social and organizational aspects of long-term care in the Netherlands. This presentation discusses various Dutch models that have implemented small-scale and homelike care environments, including green care farms, dementia village and citizen initiatives. The models reflect a common care concept, focusing on residents’ remaining strengths, providing opportunity for choice and aiming to sustain a sense of self and control. A small number of residents (usually 6 to 8) live together in a homelike environment and nursing staff are part of the household. Residents are encouraged to participate in daily household activities, emphasizing normalization of daily life with person-centred care. The physical environment resembles an archetypal home. This talk presents the scientific evidence on the impact and effects of these small-scale, homelike models on residents, their family caregivers and staff. Furthermore, the presentation will highlight working approaches and how these initiatives have positively influenced routine care across the long-term care spectrum.


2006 ◽  
Vol 120 (7) ◽  
pp. 583-586 ◽  
Author(s):  
J Wasson ◽  
N Jacobsen ◽  
D Bowdler ◽  
C Hopkins

Implementation of the European Working Time Directive and the Modernising Medical Careers initiative will mean junior surgeons must be trained in fewer hours over a shorter period. For this reason, junior surgeon training opportunities must be optimized. We undertook a departmental audit to identify where opportunities to train senior house officers (SHOs) in theatre were being lost, so that appropriate timetable changes could be made in order to optimize exposure to suitable surgical cases. During the first audit cycle, the SHOs followed their existing timetable and theatre attendance was monitored prospectively over a two-week period. Only 30 per cent of theatre sessions were attended and case participation was only 27 per cent. Simple timetable changes were made to maximize SHO theatre attendance, and a second prospective two-week audit was undertaken. The new rota yielded 46 per cent theatre attendance and 48 per cent case participation.


1943 ◽  
Vol 10 (4) ◽  
pp. A183-A186
Author(s):  
A. M. Binnie

Abstract The existing methods of predicting the oscillations in a closed surge tank are very lengthy unless drastic simplifications are made. In this paper a new and quick procedure is explained for calculating the maximum pressure and expansion of the air, which result from a sudden shutdown of the plant. Friction is taken into account, both in the pipe and also in any arrangement placed between the pipe and the tank to damp the oscillations, but the compression and expansion of the air must be assumed isothermal. Small-scale experiments confirmed the expectation that the observed maximum pressures would be greater than the theoretical. The shutdown of a big plant is, however, not instantaneous, and the theory may be expected to yield results sufficiently accurate for the purpose in view.


1995 ◽  
Vol 15 (1) ◽  
pp. 102-111 ◽  
Author(s):  
S Gugneja ◽  
J V Virbasius ◽  
R C Scarpulla

Nuclear respiratory factor 2 (NRF-2) was previously purified to near homogeneity from HeLa cells on the basis of its ability to bind tandem recognition sites in the rat cytochrome oxidase subunit IV (RCO4) promoter. It consisted of five subunits, alpha, beta 1, beta 2, gamma 1, and gamma 2. Sequencing of tryptic peptides from alpha and from mixtures of the two beta or two gamma subunits revealed sequence identities with subunits of the mouse GA-binding protein (GABP), a ubiquitously expressed ETS domain activator composed of three subunits, alpha, beta 1, and beta 2. To understand the precise relationship between NRF-2 and GABP, cDNAs for all five NRF-2 subunits have now been cloned and their products have been overexpressed. The results establish that the two additional NRF-2 subunits are molecular variants that differ from GABP beta 1 and beta 2 by having a 12-amino-acid insertion containing two serine doublets. PCR and RNase protection assays show that mRNAs for these variants are expressed in the human but not the rodent cells and tissues examined. The insertion did not alter the ability of the beta and gamma subunits to associate with alpha, the DNA-binding subunit, nor did it affect the ability of NRF-2 beta 1 or beta 2 to direct high-affinity binding of alpha to tandem sites in the RCO4 promoter. In addition, the four NRF-2 beta and gamma subunits were equally proficient in activating transcription in transfected cells when fused to a GAL4 DNA-binding domain. The domain responsible for this transcriptional activation was localized by deletion mapping to a region of approximately 70 amino acids that is conserved in all four NRF-2 beta and gamma subunits. The repeated glutamine-containing hydrophobic clusters within this region bear a strong resemblance to those recently implicated in protein-protein interactions within the transcriptional apparatus.


Antiquity ◽  
1954 ◽  
Vol 28 (110) ◽  
pp. 91-98 ◽  
Author(s):  
H. S. Gracie

The barren hill-tops of Malta are scored in many places by ancient ruts cut deeply into the rock. They can be seen also on the slopes and on the lower plains, but less frequently because these areas are normally under agricultural soil. They always occur in pairs from 52 to 58 inches apart and were quite clearly used by vehicles. They have been discussed in print for 300 years but no agreement has been reached on how, when or why they were made or what vehicles used them. In fact, there are as many theories as there are authors. Of these writers only Captain E. G. Fenton and Professor Sir T. Zammit appear to have done any serious field work, and none has published a map. The present writer, therefore, decided to attempt the laborious task of plotting them, making such other observations and measurements as he could. Zammit, in the paper cited, reproduced some excellent photographs from both the ground and the air, to which the reader is referred.Time did not permit an examination of the whole island and few observations were made in the low-lying south-eastern part. A fairly intensive survey was made of the high ground as far north as the Baida Ridge, which joins the northern shores of Ghain Tuffieha Bay and St. Paul’s Bay. Two portions of the map are reproduced here. Where there are a number of parallel tracks in close proximity they are shown on the map as one on account of the necessarily small scale used. The gaps in the routes are mainly due to cultivated patches, and no attempt has been made to bridge them by conjecture.


Author(s):  
Yunita Rochmawati Jonan

ABSTRAK Tujuan penelitian pengembangan ini adalah menghasilkan sebuah rubrik penskoran pada asesmen otentikuntuk materi volume dan luas balok yang dapat digunakan oleh guru dan siswa. Rubrik ini dibuat sesuai dengan standar penilaian dalam kurikulum 2013. Penelitian pengembangan (R&D) ini menggunakan model Borg and Gall yang terdiri dari lima tahap yaitu penelitian dan pengumpulan data awal, perencanaan, pengembangan format produk, uji coba skala kecil, revisi akhir dan penyempurnaan produk. Hasil penelitian pengembangan ini berupa rubrik penyekoran holistik dan analitik dengan nilai sangat valid sebesar 94%. Analisis dari penelitian ini adalah angket kebutuhan bagi guru dan siswa sedangkan uji coba dilakukan melalui perorangan, kelompok kecil dan kelompok besar. Sedangkan kelayakan rubrik penskoran dari penilaian oleh ahli dengan menggunakan angket uji validitas materi, hasil belajar siswa, respon siswa serta tanggapan guru pengajar. Hasil penelitian ini menunjukkan bahwa rubrik penskoran ini efektif dalam membantu memperbaiki hasil ulangan dan cukup praktis serta dapat dipergunakan untuk memberikan penilaian hasil belajar yang sesuai dengan kurikulum 2013. Kata kunci: rubrik, penskoran, asesmen otentik.   ABSTRACT The purpose of this development research is to produce a scoring rubric on an authenticity assessment for the volume and area materials that can be used by teachers and students. The rubric is made in based on the assessment standards in the 2013 curriculum. This development research (R&D) uses the Borg and Gall model consisting of five stages of preliminary data research and collection, planning, product format development, small-scale trials, final revisions and product enhancements. The results of this development research include holistic and analytic scoring rubric with a very valid score of 94%. The rubric is analyzed fromquestionnaire for teachers and students, while trials are conducted through individuals, small groups and large groups. The feasibility of the scoring rubric from assessment by members by using the material validity test questionnaire, student learning results, student response and teacher responses. The results of this study show that the scoring rubric is effective in helping to improve the test results and is practical and can be used to provide assessment of learning outcomes in accordance with the 2013 curriculum. Keywords: rubric, scoring, authentic assessment.


2014 ◽  
Vol 41 (3) ◽  
pp. 809-817 ◽  
Author(s):  
Zvinka Z. Zlatar ◽  
Christina E. Wierenga ◽  
Katherine J. Bangen ◽  
Thomas T. Liu ◽  
Amy J. Jak

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