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https://www.readbyqxmd.com/read/29434620/functional-analyses-of-a-novel-splice-variant-in-the-chd7-gene-found-by-next-generation-sequencing-confirm-its-pathogenicity-in-a-spanish-patient-and-diagnose-him-with-charge-syndrome
#1
Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A Velasco, Detelina Grozeva, F L Raymond, María P Botella, María-Isabel Tejada
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without molecular diagnosis. A splice donor variant in CHD7 (c.5665 + 1G > T) was identified. To study its potential pathogenicity, exons and flanking intronic sequences were amplified from patient DNA and cloned into the pSAD® splicing vector...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29433976/rate-of-deficit-accumulation-in-home-care-users-with-intellectual-and-developmental-disabilities
#2
Hélène Ouellette-Kuntz, Lynn Martin, Katherine McKenzie
PURPOSE: To identify factors associated with the rate of deficit accumulation in a population of adults with intellectual and developmental disabilities (IDD). METHODS: A longitudinal analysis of administratively held clinical data collected at routine home care assessments across Ontario (Canada) using the Resident Assessment Instrument for Home Care (RAI-HC) was conducted using a cohort comprised of 5074 adults with IDD 18-99 years of age who had at least two home care assessments between April 1, 2003 and March 31, 2015...
January 31, 2018: Annals of Epidemiology
https://www.readbyqxmd.com/read/29427525/frailty-versus-stopping-elderly-accidents-deaths-and-injuries-initiative-fall-risk-score-ability-to-predict-future-falls
#3
Rebecca S Crow, Matthew C Lohman, Dawna Pidgeon, Martha L Bruce, Stephen J Bartels, John A Batsis
OBJECTIVES: To compare the ability of frailty status to predict fall risk with that of community fall risk screening tools. DESIGN: Analysis of cross-sectional and longitudinal data from NHATS. SETTING: National Health and Aging Trend Study (NHATS) 2011-2015. PARTICIPANTS: Individuals aged 65 and older (N = 7,392). MEASUREMENTS: Fall risk was defined according to the Stopping Elderly Accidents, Deaths and Injuries (STEADI) initiative...
February 10, 2018: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29426485/untangling-the-overlap-between-frailty-and-low-lean-mass-data-from-toulouse-frailty-day-hospital
#4
Bertrand Fougère, Sandrine Sourdet, Matthieu Lilamand, Maturin Tabue-Teguod, Bernard Teysseyre, Charlotte Dupuy, Bruno Vellas, Yves Rolland, Fati Nourhashemi, Gabor Abellan van Kan
BACKGROUND: The decline in lean mass, observed in older people, has been frequently associated with frailty. This assumption has scarcely been assessed. This study explored the association between current proposed definitions of low lean mass and the Fried phenotype of frailty. METHODS: Cross-sectional study. Participants admitted to the Toulouse frailty day hospital, with an assessment of body composition, 70 years or older were included consecutively in the study...
March 2018: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/29419697/frail-and-pre-frail-phenotype-is-associated-with-pain-in-older-hiv-infected-patients
#5
Nathalie Petit, Patricia Enel, Isabelle Ravaux, Albert Darque, Karine Baumstarck, Sylvie Bregigeon, Frédérique Retornaz
As HIV-infected patients grow older, some accumulate multiple health problems earlier than the noninfected ones in particular frailty phenotypes. Patients with frailty phenotype are at higher risk of adverse outcomes (worsening mobility, disability, hospitalization, and death within three years).Our study aimed to evaluate prevalence of frailty in elderly HIV-infected patients and to assess whether frailty is associated with HIV and geriatric factors, comorbidities, and precariousness in a French cohort of older HIV infected...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29401238/maneuvering-together-apart-and-at-odds-residents-care-convoys-in-assisted-living
#6
Candace L Kemp, Mary M Ball, Jennifer Craft Morgan, Patrick J Doyle, Elisabeth O Burgess, Molly M Perkins
Objectives: Frail and disabled individuals such as assisted living residents are embedded in "care convoys" comprised of paid and unpaid caregivers. We sought to learn how care convoys are configured and function in assisted living and understand how and why they vary and with what resident and caregiver outcomes. Method: We analyzed data from a qualitative study involving formal in-depth interviews, participant observation and informal interviewing, and record review...
February 1, 2018: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/29393040/perioperative-treatment-of-patients-undergoing-acute-high-risk-abdominal-surgery%C3%A2
#7
Line Toft Tengberg
Critically ill acute high-risk abdominal surgery patients represent a major challenge to health care providers, with the typical patient being elderly and frail, and with severe and multiple comorbidities. The mortality rate in this population is high, and the postoperative course is characterized by complications, prolonged hospitalisation and considerable risk of permanent disability. With an ageing population, the number of elderly patients, as well as challenges concerning treatment will arise, calling for a coordinated effort both nationally and internationally to enhance treatment in this vulnerable patient group...
February 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29387461/hypertension-and-frailty-syndrome-in-old-age-current-perspectives
#8
Izabella Uchmanowicz, Anna Chudiak, Beata Jankowska-Polańska, Robbert Gobbens
Hypertension is both a health problem and a financial one globally. It affects nearly 30 % of the general population. Elderly people, aged ≥65 years, are a special group of hypertensive patients. In this group, the overall prevalence of the disease reaches 60 %, rising to 70 % in those aged ≥80 years. In the elderly population, isolated systolic hypertension is quite common. High systolic blood pressure is associated with an increased risk of cardiovascular disease, cerebrovascular disease, peripheral artery disease, cognitive impairment and kidney disease...
November 2017: Cardiac failure review
https://www.readbyqxmd.com/read/29360585/frailty-and-health-related-quality-of-life-improvement-following-adult-spinal-deformity-surgery
#9
Daniel B C Reid, Alan H Daniels, Tamir Ailon, Emily Miller, Daniel M Sciubba, Justin S Smith, Christopher I Shaffrey, Frank Schwab, Doug Burton, Robert A Hart, Rick Hostin, Bret Line, Shay Bess, Christopher P Ames
BACKGROUND: While the Adult Spinal Deformity Frailty Index (ASD-FI) predicts major complications and prolonged hospital length of stay after Adult Spinal Deformity (ASD) surgery, the impact of frailty on postoperative changes in health related quality of life (HRQoL) is unknown. METHODS: Patients who underwent a ≥ 4 level instrumented fusion for ASD with minimum 2-year follow-up were stratified by ASD-FI score into 3 groups: not frail (NF); frail (F); and severely frail (SF)...
January 19, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29346525/frailty-syndrome-and-genomic-instability-in-older-adults-suitability-of-the-cytome-micronucleus-assay-as-a-diagnostic-tool
#10
María Sánchez-Flores, Diego Marcos-Pérez, Laura Lorenzo-López, Ana Maseda, José C Millán-Calenti, Stefano Bonassi, Eduardo Pásaro, Blanca Laffon, Vanessa Valdiglesias
Frailty, a condition involving increased risk of disability and mortality in older adults, has emerged as a reliable way to predict the effect of aging. Genomic instability may help to anticipate recognition of frail individuals and improving frailty outcomes. Our objective was to evaluate the potential of the micronucleus (MN) frequency, evaluated in lymphocytes and buccal cells, to anticipate frailty identification and improve diagnosis reliability. Our results, from a group of older adults over 65, showed that frail individuals had significantly higher frequencies of MN in lymphocytes (19...
January 13, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29346524/-effects-of-a-primary-care-based-multifactorial-intervention-on-physical-and-cognitive-function-in-frail-elderly-individuals-a-randomized-controlled-trial
#11
Laura Romera-Liebana, Francesc Orfila, Josep Maria Segura, Jordi Real, Maria Lluïsa Fabra, Mercedes Möller, Santiago Lancho, Anna Ramirez, Nuria Marti, Montserrat Cullell, Nuria Bastida, Dolors Martinez, Maria Giné, Patricia Cendrós, Anna Bistuer, Elena Perez, Maria Assumpta Fabregat, Gonçal Foz
Background: Detecting and managing frailty at early stages can prevent disability and other adverse outcomes. The study aim was to evaluate whether a multifactorial intervention program could modify physical and cognitive frailty parameters in elderly individuals. Methods: We conducted a multicenter, randomized, single-blind, parallel-group trial in community-living pre-frail/frail elderly individuals in Barcelona. A total of 352 patients, aged ≥65 years old with positive frailty screening, was randomized into two groups to receive a 12-week multidisciplinary intervention or usual care, with concealed allocation...
January 16, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29338456/an-update-on-the-safety-of-nutraceuticals-and-effects-on-lipid-parameters
#12
Arrigo F G Cicero, Alessandro Colletti
Cardiovascular diseases (CVDs) are the leading cause of mortality and disability in developed countries, whereas a large portion of patients in primary prevention have uncontrolled level of CVD risk factors. Dietary supplementation with bioactive natural compounds with demonstrated lipid-lowering effects is currently supported by the international guidelines for CVD prevention and some international expert panels. Areas covered: This review provides insights on issues concerning the tolerability and safety of the most commonly used nutraceuticals with demonstrated lipid-lowering effect in humans...
January 16, 2018: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/29337017/management-of-diabetes-in-older-adults
#13
G Sesti, R Antonelli Incalzi, E Bonora, A Consoli, A Giaccari, S Maggi, G Paolisso, F Purrello, G Vendemiale, N Ferrara
Type 2 diabetes prevalence is high in older adults and is expected to rise in the next decades. Diabetes in the population of frail older adults is accompanied by functional disability, several comorbidities, and premature mortality. A comprehensive geriatric assessment, including functional, cognitive, mental and social status, is advisable for identifying the glycemic targets and glucose-lowering therapies, focused on patient preferences, needs, and risks. The therapeutic options for older adults with diabetes are like those for the adult population...
December 7, 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/29313293/management-of-care-transition-and-hospital-discharge
#14
Amedeo Zurlo, Giovanni Zuliani
Current demographic and epidemiological trends highlight a growing task in surgical departments by elderly patients, characterized by high prevalence of comorbidity, complexity, and functional disability. Of consequence, discharge of an elderly patient must be considered in a new cultural perspective and should be imagined as a well-structured process starting from admission to surgical department and finishing with the patient discharge in a setting able to support her/him in the best possible way. The lack of a suitable discharge planning and of a proper transition program in the elderly subjects increases the risk of quick re-admission and may negatively affect the functional and the status quality of life of patients and caregivers...
January 8, 2018: Aging Clinical and Experimental Research
https://www.readbyqxmd.com/read/29301644/sex-specific-outcomes-of-transcatheter%C3%A2-aortic-valve-replacement-with-the-sapien-3-valve-insights-from-the-partner-ii-s3-high-risk-and-intermediate-risk-cohorts
#15
Molly Szerlip, Sarah Gualano, Elizabeth Holper, John J Squiers, Jonathon M White, Darshan Doshi, Mathew R Williams, Rebecca T Hahn, John G Webb, Lars G Svensson, Ajay J Kirtane, David J Cohen, Pamela S Douglas, Maria C Alu, Aaron Crowley, E Murat Tuzcu, Raj R Makkar, Howard C Herrmann, Vasilis Babaliaros, Vinod H Thourani, Martin B Leon, Susheel K Kodali, Michael J Mack
OBJECTIVES: The purpose of this study was to identify sex-specific outcomes of intermediate risk patients undergoing transcatheter aortic valve replacement with the SAPIEN 3 valve. BACKGROUND: A survival difference has been observed in women as compared with men in inoperable and high-risk patients receiving early-generation balloon-expandable valves for transcatheter aortic valve replacement (TAVR). Whether a sex-specific outcome difference persists with newer-generation valves and in lower-risk patients is unknown...
January 8, 2018: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29296872/chronic-disease-burden-and-frailty-in-survivors-of-childhood-hsct-a-report-from-the-st-jude-lifetime-cohort-study
#16
Hesham M Eissa, Lu Lu, Malek Baassiri, Nickhill Bhakta, Matthew J Ehrhardt, Brandon M Triplett, Daniel M Green, Daniel A Mulrooney, Leslie L Robison, Melissa M Hudson, Kirsten K Ness
Outcomes of hematopoietic stem cell transplantation (HSCT) have markedly improved over the past 2 decades, underscoring a need to better understand the long-term health effects of this intensive treatment modality. We describe the burden of chronic medical conditions and frail health among St. Jude Lifetime Cohort Study participants treated for childhood hematologic malignancies with HSCT (n = 112) or with conventional therapy (n = 1106). Chronic conditions and frail health were ascertained clinically and classified according to a modified version of the Common Terminology Criteria for Adverse Events (version 4...
November 14, 2017: Blood Advances
https://www.readbyqxmd.com/read/29289543/comparison-of-3-frailty-instruments-in-a-geriatric-acute-care-setting-in-a-low-middle-income-country
#17
Sumika Mori Lin, Márlon Juliano Romero Aliberti, Sileno de Queiroz Fortes-Filho, Juliana de Araújo Melo, Ivan Aprahamian, Claudia Kimie Suemoto, Wilson Jacob Filho
OBJECTIVE: Comparison of frailty instruments in low-middle income countries, where the prevalence of frailty may be higher, is scarce. In addition, less complex diagnostic tools for frailty are important in these settings, especially in acutely ill patients, because of limited time and economic resources. We aimed to compare the performance of 3 frailty instruments for predicting adverse outcomes after 1 year of follow-up in older adults with an acute event or a chronic decompensated disease...
December 27, 2017: Journal of the American Medical Directors Association
https://www.readbyqxmd.com/read/29224701/physical-activity-in-older-people-case-studies-of-how-to-make-change-happen
#18
REVIEW
Monica Rodrigues Perracini, Marcia Rodrigues Costa Franco, Natalia Aquaroni Ricci, Catherine Blake
Enhancing physical activity (PA) is recognized as a powerful intervention for the prevention and treatment of chronic diseases and disability in older people. Furthermore, there is an agreement that increased PA in daily life is a key determinant of active and healthy ageing and should be recommended for frail and sedentary older people. Unfortunately, relatively few older people engage in regular PA or stay active in the long term. This article summarizes and discusses PA recommendations for older adults without focussing on specific diseases, presents the main barriers and facilitators for increasing PA levels, and considers the implementation of these recommendations on the basis of the existing evidence...
April 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29215206/once-frail-always-frail-frailty-transitions-in-home-care-users-with-intellectual-and-developmental-disabilities
#19
Lynn Martin, Katherine McKenzie, Hélène Ouellette-Kuntz
AIM: Frailty is understood as a dynamic non-linear process, and used to indicate age-related decline. Recent work has shown that adults with intellectual and developmental disabilities experience higher rates of frailty at much earlier ages than the general population. The present study describes transitions in frailty status (i.e. non-frail, pre-frail, frail) over 1 year, and explores the association between baseline frailty status and worsening/death over time. METHODS: Results are based on secondary analysis of 2893 individuals with intellectual and developmental disabilities receiving community-based home care services in Ontario (Canada)...
December 7, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/29206906/what-is-comprehensive-geriatric-assessment-cga-an-umbrella-review
#20
S G Parker, P McCue, K Phelps, A McCleod, S Arora, K Nockels, S Kennedy, H Roberts, S Conroy
Background: comprehensive geriatric assessment (CGA) is now the accepted gold standard for caring for frail older people in hospital. However, there is uncertainty about identifying and targeting suitable recipients and which patients benefit the most. Objectives: our objectives were to describe the key elements, principal measures of outcome and the characteristics of the main beneficiaries of inpatient CGA. Methods: we used the Joanna Briggs Institute umbrella review method...
December 1, 2017: Age and Ageing
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