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1.
Age Ageing ; 47(1): 82-88, 2018 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-28985325

RESUMEN

Background: chronic obstructive pulmonary disease (COPD) and chronic heart failure (CHF) frequently coexist in older people, reducing patients' quality of life (QoL) and increasing morbidity and mortality. Objective: we studied the feasibility and efficacy of an integrated telerehabilitation home-based programme (Telereab-HBP), 4 months long, in patients with combined COPD and CHF. The primary outcome was exercise tolerance evaluated at the 6-min walk test (6MWT). Secondary outcomes were time-to-event (hospitalisation and death), dyspnoea (MRC), physical activity profile (PASE), disability (Barthel) and QoL (MLHFQ and CAT). Study design: randomised, open, controlled, multicenter trial. Methods: the Telereab-HBP included remote monitoring of cardiorespiratory parameters, weekly phone-calls by the nurse, and exercise programme, monitored weekly by the physiotherapist. All outcomes were studied again after 2 months of a no-intervention period. Results: in total, 112 patients were randomised, 56 per group. Their mean (SD) age was 70 (9) years, and 92 (82.1%) were male. After 4 months, the IG were able to walk further than at baseline: mean (95% CI) Δ6MWT was 60 (22.2,97.8) m; the CG showed no significant improvement: -15 (-40.3,9.8) m; P = 0.0040 between groups. In IG, the media time to hospitalisation/death was 113.4 days compared with 104.7 in the CG (P = 0.0484, log-rank test). Other secondary outcomes: MRC (P = 0.0500), PASE (P = 0.0015), Barthel (P = 0.0006), MLHFQ (P = 0.0007) and CAT (P = 0.0000) were significantly improved in the IG compared with the CG at 4 months. IG maintained the benefits acquired at 6 months for outcomes. Conclusions: this 4-month Telereab-HBP was feasible and effective in older patients with combined COPD and CHF.


Asunto(s)
Rehabilitación Cardiaca/métodos , Terapia por Ejercicio/métodos , Insuficiencia Cardíaca/rehabilitación , Servicios de Atención a Domicilio Provisto por Hospital , Enfermedad Pulmonar Obstructiva Crónica/rehabilitación , Terapia Respiratoria/métodos , Telerrehabilitación/métodos , Factores de Edad , Anciano , Anciano de 80 o más Años , Rehabilitación Cardiaca/efectos adversos , Rehabilitación Cardiaca/mortalidad , Evaluación de la Discapacidad , Terapia por Ejercicio/efectos adversos , Terapia por Ejercicio/mortalidad , Tolerancia al Ejercicio , Estudios de Factibilidad , Femenino , Evaluación Geriátrica/métodos , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/fisiopatología , Humanos , Italia , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Admisión del Paciente , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Enfermedad Pulmonar Obstructiva Crónica/mortalidad , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , Calidad de Vida , Recuperación de la Función , Terapia Respiratoria/efectos adversos , Terapia Respiratoria/mortalidad , Factores de Riesgo , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del Tratamiento , Prueba de Paso
2.
Animals (Basel) ; 13(2)2023 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-36670778

RESUMEN

Calcium-sensitive caseins are the main protein component of milk. In the goat, they are encoded by three genes (CSN1S1, CSN2, and CSN1S2) located on chromosome 6. A high number of alleles has been discovered for these genes in the goat species, responsible for changes in the milk's qualitative and quantitative characteristics. This study aimed to develop an Allele-Specific PCR (AS-PCR), which allowed us to unequivocally detect goat carriers of the CSN201 allele. Subsequently, the calcium-sensitive casein loci genotype was investigated in three native goat breeds of the Lazio Region (Bianca Monticellana, Capestrina, and Ciociara Grigia). No individuals were carriers of the CSN1S101, CSN1S1E, CSN201, CSN1S2D, and CSN1S20 alleles, while a high frequency of the alleles CSN1S1F and CSN1S1A*,B* was observed. Association analyses between the different genotypes at the CSN1S1 locus and some milk traits, namely the fat and protein yielded and the fat, protein, solids-not-fat, and casein percentages without an effect on the milk yield, were observed.

3.
PLoS One ; 18(10): e0291814, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37851594

RESUMEN

Livestock European diffusion followed different human migration waves from the Fertile Crescent. In sheep, at least two diffusion waves have shaped the current breeds' biodiversity generating a complex genetic pattern composed by either primitive or fine-wool selected breeds. Nowadays most of the sheep European breeds derive from the second wave which is supposed to have largely replaced oldest genetic signatures, with the exception of several primitive breeds confined on the very edge of Northern Europe. Despite this, some populations also in the Mediterranean region are characterised by the presence of phenotypic traits considered ancestral such as the policeraty, large horns in the ram, short tail, and a moulting fleece. Italy is home of a large number of local breeds, albeit some are already extinct, others are listed as critically endangered, and among these there is the Quadricorna breed which is a four-horned sheep characterised by several traits considered as ancestral. In this context we genotyped 47 individuals belonging to the Quadricorna sheep breed, a relict and endangered breed, from Central and Southern Italy. In doing so we used the Illumina OvineSNP50K array in order to explore its genetic diversity and to compare it with other 41 breeds from the Mediterranean region and Middle-East, with the specific aim to reconstruct its origin. After retaining 32,862 SNPs following data filtering, the overall genomic architecture has been explored by using genetic diversity indices, Principal Component Analysis (PCA) and admixture analysis, while the genetic relationships and migration events have been inferred using a neighbor-joining tree based on Reynolds' distances and by the maximum likelihood tree as implemented in treemix. The Quadricorna breed exhibit genetic diversity indices comparable with those of most of the other analysed breeds, however, the two populations showed opposing patterns of genetic diversity suggesting different levels of genomic inbreeding and drift (FIS and FROH). In general, all the performed genome-wide analyses returned complementary results, indicating a westward longitudinal cline compatible with human migrations from the Middle-East and several additional genetic footprints which might mirror more recent historical events. Interestingly, among the Italian breeds, the original Quadricorna (QUAD_SA) first separated showing its own ancestral component. In addition, the admixture analysis does not suggest any signal of recent gene exchange with other Italian local breeds, highlighting a rather ancestral purity of this population. On the other hand, both the neighbor-joining tree and the treemix analysis seem to suggest a proximity of the Quadricorna populations to breeds of South-Eastern Mediterranean origin. Although our results do not support a robust link between the genetics of the first wave and the presence of primitive traits, the observed genetic uniqueness together with the inferred phylogeograpic reconstruction would suggest an ancient presence of the Quadricorna breed in the Italian Peninsula. Because of this singularity, urgent conservation actions are needed in order to keep the breed and all related cultural products alive.


Asunto(s)
Variación Genética , Estudio de Asociación del Genoma Completo , Ovinos/genética , Masculino , Animales , Humanos , Genoma , Endogamia , Genotipo , Región Mediterránea , Polimorfismo de Nucleótido Simple
4.
PLoS One ; 17(10): e0275989, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36288337

RESUMEN

Livestock European diffusion followed different human migration waves from the Fertile Crescent. In sheep, at least two diffusion waves have shaped the current breeds' biodiversity generating a complex genetic pattern composed by either primitive or fine-wool selected breeds. Among primitive breeds, aside from sharing common ancestral genomic components, they also show several traits such as the policeraty, large horns in the ram, short tail, and a moulting fleece, considered as ancestral. Although most of the primitive breeds characterized by these traits are confined on the very edge of Northern Europe, several residual populations are also scattered in the Mediterranean region. In fact, although in Italy a large number of local breeds are already extinct, others are listed as critically endangered, and among these there is the Quadricorna breed which is a four-horned sheep characterized by several ancestral traits. In this context we genotyped 47 individuals belonging to the Quadricorna sheep breed, a relict and endangered breed, from Central and Southern Italy. In doing so we used the Illumina OvineSNP50K array in order to explore its genetic diversity and to compare it with other 33 primitive traits-related, Mediterranean and Middle-East breeds, with the specific aim to reconstruct its origin. After retaining 35,680 SNPs following data filtering, the overall genomic architecture has been explored by using genetic diversity indices, Principal Component Analysis (PCA) and admixture analysis, while the genetic relationships and migration events have been inferred using a neighbor-joining tree based on Reynolds' distances and by the maximum likelihood tree as implemented in treemix. Multiple convergent evidence from all our population genetics analyses, indicated that the two Quadricorna populations differ from all the other Italian breeds, while they resulted to be very close to the Middle Eastern and primitive European breeds. In addition, the genetic diversity indices highlighted values comparable with those of most of the other analyzed breeds, despite the two populations exhibit slightly different genetic indices suggesting different levels of genomic inbreeding and drift (FIS and FROH). The admixture analysis does not suggest any signal of recent gene exchange with other Italian local breeds, highlighting a rather ancestral purity of the two populations, while on the other hand the treemix analysis seems to suggest an ancient admixture with other primitive European breeds. Finally, all these evidences seem to trace back the residual Quadricorna sheep to an early Neolithic spread, probably following a Mediterranean route and that urgent conservation actions are needed in order to keep the breed and all related cultural products alive.


Asunto(s)
Variación Genética , Genoma , Ovinos/genética , Masculino , Animales , Humanos , Cruzamiento , Endogamia , Genotipo , Polimorfismo de Nucleótido Simple
5.
J Am Med Dir Assoc ; 20(3): 340-346, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30366759

RESUMEN

OBJECTIVES: The aim of this study was to determine the feasibility and efficacy of a 6-month tele-rehabilitation home-based program, designed to prevent falls in older adults with 1 or more chronic diseases (cardiac, respiratory, neuromuscular or neurologic) returning home after in-hospital rehabilitation for their chronic condition. Patients were eligible for selection if they had experienced a fall during the previous year or were at high risk of falling. DESIGN: Randomized controlled trial. Tele-rehabilitation consisted of a falls prevention program run by the physiotherapist involving individual home exercise (strength, balance, and walking) and a weekly structured phone-call by the nurse inquiring about the disease status and symptoms and providing patient support. SETTING AND PARTICIPANTS: Two hundred eighty-three patients (age 79 ± 6.6 years; F = 59%) with high risk of falls and discharged home after in-hospital rehabilitation were randomized to receive home-based program (intervention group, n = 141) or conventional care (control group, n = 142). MEASURES: Incidence of falls at home in the 6-month period (primary outcome); time free to the first fall and proportion of patients sustaining ≥2 falls (secondary outcomes). RESULTS: During the 6 months, 85 patients fell at least once: 29 (20.6%) in the Intervention Group versus 56 (39.4%) in the control group (P < .001). The risk of falls was significantly reduced in the intervention group (relative risk =0.60, 95% confidence interval: 0.44-0.83; P < .001). The mean ± standard deviation time to first fall was significantly longer in intervention group than control group (152 ± 58 vs 134 ± 62 days; P = .001). Significantly, fewer patients experienced ≥2 falls in the intervention group than in the control group: 11 (8%) versus 24 (17%), P = .020. CONCLUSIONS: A 6-month tele-rehabilitation home-based program integrated with medical/nursing telesurveillance is feasible and effective in preventing falls in older chronic disease patients with a high risk of falling.


Asunto(s)
Accidentes por Caídas/prevención & control , Comunicación Interdisciplinaria , Telemedicina , Anciano , Anciano de 80 o más Años , Terapia por Ejercicio , Estudios de Factibilidad , Femenino , Humanos , Vida Independiente , Masculino
6.
Clinicoecon Outcomes Res ; 10: 301-307, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29892201

RESUMEN

PURPOSE: The aim of the present study was to compare 2 clinical assessment tools, the Modified Barthel Index (currently administered to patients admitted into inpatient rehabilitation units after elective hip or knee arthroplasty) with the World Health Organization Disability Assessment Schedule (WHODAS) 2.0 scale, in order to identify which tool is more suitable for assessing the disability and the "recovery rate". PATIENTS AND METHODS: A perspective multicenter observational study was developed, involving 2 hospital authorities in Italy. Eighty consecutive cases of inpatients were enrolled. Patient's disability was evaluated using both of the aforementioned tools, before and after the rehabilitation program. RESULTS: The WHODAS 2.0 score was, on average, 12.21% higher than the Modified Barthel Index, before the surgical intervention. Modified Barthel Index measures could be considered as a determinant and a predictor of length of stay. CONCLUSION: The Modified Barthel Index is limited, since it does not consider a patient's perspective. The WHODAS 2.0 scale fully considers a patient's perception of disability. Therefore, both assessment scales should be administered in clinical practice, in order to provide integration of clinical information with a patient's reported outcome measures.

8.
Trials ; 17(1): 462, 2016 Sep 22.
Artículo en Inglés | MEDLINE | ID: mdl-27659741

RESUMEN

BACKGROUND: Chronic obstructive pulmonary disease (COPD) and chronic heart failure (CHF) frequently coexist, significantly reducing patients' quality of life and increasing morbidity and mortality. For either single disease, a multidisciplinary disease-management approach supported by telecommunication technologies offers the best outcome in terms of prolonged survival and reduced hospital readmissions. However, no data exist in patients with combined COPD/CHF. We planned a randomized controlled trial to investigate the feasibility and efficacy of an integrated, home-based, medical/nursing intervention plus a rehabilitation program versus conventional care in patients with coexisting COPD/CHF. The purpose of the paper is to describe the rationale and design of the trial. METHODS/DESIGNS: Patients, after inpatient rehabilitation, were randomly assigned to the intervention or control group, followed for 4 months at home, then assessed at 4 and 6 months. The intervention group followed a telesurveillance (telephone contacts by nurse and remote monitoring of cardiorespiratory parameters) and home-based rehabilitation program (at least three sessions/week of mini-ergometer exercises, callisthenic exercises and twice weekly pedometer-driven walking, plus telephone contacts by a physiotherapist). Telephone follow-up served to verify compliance to therapy, maintain exercise motivation, educate for early recognition of signs/symptoms, and verify the skills acquired. At baseline and 4 and 6 months, the 6-min Walk Test, dyspnea and fatigue at rest, oxygenation (PaO2/FiO2), physical activity profile (PASE questionnaire), and QoL (Minnesota and CAT questionnaires) were assessed. During the study, serious clinical events (hospitalizations or deaths) were recorded. DISCUSSION: Currently, no studies have assessed the impact of a telehealth program in patients with combined COPD and CHF. Our study will show whether this approach is effective in the management of such complex, frail patients who are at very high risk of exacerbations. TRIAL REGISTRATION: Network per la prevenzione e la sanità pubblica, CCM, Ministero della Salute "Modelli innovativi di gestione integrata telegestita ospedale-territorio del malato cronico a fenotipo complesso: studio di implementazione, validazione e impatto," registered on 14 January 2014. ClinicalTrials.gov Identifier: NCT02269618 , registered on 17 October 2014.

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