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1.
Cell ; 165(4): 1012-26, 2016 May 05.
Artículo en Inglés | MEDLINE | ID: mdl-27062923

RESUMEN

Mouse studies have been instrumental in forming our current understanding of early cell-lineage decisions; however, similar insights into the early human development are severely limited. Here, we present a comprehensive transcriptional map of human embryo development, including the sequenced transcriptomes of 1,529 individual cells from 88 human preimplantation embryos. These data show that cells undergo an intermediate state of co-expression of lineage-specific genes, followed by a concurrent establishment of the trophectoderm, epiblast, and primitive endoderm lineages, which coincide with blastocyst formation. Female cells of all three lineages achieve dosage compensation of X chromosome RNA levels prior to implantation. However, in contrast to the mouse, XIST is transcribed from both alleles throughout the progression of this expression dampening, and X chromosome genes maintain biallelic expression while dosage compensation proceeds. We envision broad utility of this transcriptional atlas in future studies on human development as well as in stem cell research.


Asunto(s)
Blastocisto/metabolismo , Cromosomas Humanos X , Análisis de la Célula Individual , Masa Celular Interna del Blastocisto/metabolismo , Compensación de Dosificación (Genética) , Femenino , Humanos , Masculino , ARN Largo no Codificante/genética , Análisis de Secuencia de ARN , Caracteres Sexuales , Transcriptoma
3.
Proc Natl Acad Sci U S A ; 117(29): 16816-16823, 2020 07 21.
Artículo en Inglés | MEDLINE | ID: mdl-32632003

RESUMEN

South American (SA) societies are highly vulnerable to droughts and pluvials, but lack of long-term climate observations severely limits our understanding of the global processes driving climatic variability in the region. The number and quality of SA climate-sensitive tree ring chronologies have significantly increased in recent decades, now providing a robust network of 286 records for characterizing hydroclimate variability since 1400 CE. We combine this network with a self-calibrated Palmer Drought Severity Index (scPDSI) dataset to derive the South American Drought Atlas (SADA) over the continent south of 12°S. The gridded annual reconstruction of austral summer scPDSI is the most spatially complete estimate of SA hydroclimate to date, and well matches past historical dry/wet events. Relating the SADA to the Australia-New Zealand Drought Atlas, sea surface temperatures and atmospheric pressure fields, we determine that the El Niño-Southern Oscillation (ENSO) and the Southern Annular Mode (SAM) are strongly associated with spatially extended droughts and pluvials over the SADA domain during the past several centuries. SADA also exhibits more extended severe droughts and extreme pluvials since the mid-20th century. Extensive droughts are consistent with the observed 20th-century trend toward positive SAM anomalies concomitant with the weakening of midlatitude Westerlies, while low-level moisture transport intensified by global warming has favored extreme rainfall across the subtropics. The SADA thus provides a long-term context for observed hydroclimatic changes and for 21st-century Intergovernmental Panel on Climate Change (IPCC) projections that suggest SA will experience more frequent/severe droughts and rainfall events as a consequence of increasing greenhouse gas emissions.


Asunto(s)
Clima , Calentamiento Global , Árboles/crecimiento & desarrollo , Sequías , Mapeo Geográfico , Modelos Estadísticos , Lluvia , América del Sur
4.
Sensors (Basel) ; 23(1)2023 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-36617139

RESUMEN

As part of agile methodologies seen in the past few years, IT organizations have continuously adopted new practices in their software delivery life-cycle to improve both efficiency and effectiveness of development teams. Two of these practices are continuous integration and continuous deployment, which are part of the DevOps cycle which has helped organizations build software effectively and efficiently. These practices must be considered for new technologies such as smart contracts, where security concerns and bugs might cost more once deployed than traditional software. This paper states the importance of using a proper DevOps routine and how it is possible to apply this practice to a smart contract build. Specifically, this paper introduces a framework to implement DevOps for smart contracts development by describing multiple DevOps tools and their applicability to smart contract development.


Asunto(s)
Programas Informáticos
5.
J Int Neuropsychol Soc ; 28(3): 217-229, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-33949297

RESUMEN

OBJECTIVE: Discrepancies exist in reports of social cognition deficits in individuals with premanifest Huntington's disease (HD); however, the reason for this variability has not been investigated. The aims of this study were to (1) evaluate group- and individual-level social cognitive performance and (2) examine intra-individual variability (dispersion) across social cognitive domains in individuals with premanifest HD. METHOD: Theory of mind (ToM), social perception, empathy, and social connectedness were evaluated in 35 individuals with premanifest HD and 29 healthy controls. Cut-off values beneath the median and 1.5 × the interquartile range below the 25th percentile (P25 - 1.5 × IQR) of healthy controls for each variable were established for a profiling method. Dispersion between social cognitive domains was also calculated. RESULTS: Compared to healthy controls, individuals with premanifest HD performed worse on all social cognitive domains except empathy. Application of the profiling method revealed a large proportion of people with premanifest HD fell below healthy control median values across ToM (>80%), social perception (>57%), empathy (>54%), and social behaviour (>40%), with a percentage of these individuals displaying more pronounced impairments in empathy (20%) and ToM (22%). Social cognition dispersion did not differ between groups. No significant correlations were found between social cognitive domains and mood, sleep, and neurocognitive outcomes. CONCLUSIONS: Significant group-level social cognition deficits were observed in the premanifest HD cohort. However, our profiling method showed that only a small percentage of these individuals experienced marked difficulties in social cognition, indicating the importance of individual-level assessments, particularly regarding future personalised treatments.


Asunto(s)
Enfermedad de Huntington , Teoría de la Mente , Cognición , Empatía , Humanos , Enfermedad de Huntington/complicaciones , Enfermedad de Huntington/psicología , Pruebas Neuropsicológicas , Cognición Social
6.
Eur J Appl Physiol ; 121(6): 1677-1688, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33675423

RESUMEN

PURPOSE: The purpose of this study was to compare pulmonary and plasma markers of oxidative stress and inflammation after concentric and eccentric cycling bouts in individuals with chronic obstructive pulmonary disease (COPD). METHODS: Ten patients with moderate COPD level (68.3 ± 9.1 years; forced expiratory volume in 1 s = 68.6 ± 20.4% of predicted) performed 30 min of moderate-intensity concentric (CONC-M: 50% maximum concentric cycling power output; POmax) and eccentric cycling (ECC-M: 50% POmax), and high-intensity eccentric cycling (ECC-H: 100% POmax) in a randomised order. Cardiometabolic demand was monitored during cycling. Indirect markers of muscle damage were assessed before, immediately after, 24 and 48 h after cycling (muscle strength, muscle soreness and creatine kinase activity). Plasma oxidative stress (malondialdehyde: MDA), antioxidant (glutathione peroxidase activity: GPx) and inflammatory markers (IL-6, TNF-α) were measured before and 5 min after cycling. Exhaled breath condensate (EBC) samples were collected before and 15 min after cycling and analysed for hydrogen peroxide (H2O2), nitrites (NO2-) and pH. RESULTS: Cardiometabolic demand was 40-50% lesser for ECC-M than CONC-M and ECC-H. Greater muscle damage was induced after ECC-H than ECC-M and CONC-M. MDA decreased immediately after CONC-M (- 28%), ECC-M (- 14%), and ECC-H (- 17%), while GPx remained unchanged. IL-6 increased only after ECC-H (28%), while TNF-α remained unchanged after exercise. Pulmonary H2O2, NO2- and pH remained unchanged after exercise. CONCLUSION: These results suggest that only moderate muscle damage and inflammation were induced after high-intensity eccentric cycling, which did not induce pulmonary or plasmatic increases in markers of oxidative stress. TRIAL REGISTRATION NUMBER: Trial registration number: DRKS00009755.


Asunto(s)
Biomarcadores/metabolismo , Ergometría , Inflamación/metabolismo , Estrés Oxidativo/fisiología , Enfermedad Pulmonar Obstructiva Crónica/metabolismo , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , Anciano , Ingestión de Energía/fisiología , Femenino , Humanos , Peróxido de Hidrógeno/metabolismo , Concentración de Iones de Hidrógeno , Masculino , Fuerza Muscular/fisiología , Nitritos/metabolismo , Consumo de Oxígeno/fisiología , Encuestas y Cuestionarios
7.
Rev Esp Enferm Dig ; 113(6): 429-431, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33267589

RESUMEN

INTRODUCTION: a gluten-free diet (GFD) is the treatment for celiac disease (CD), with adherence oscillating between 42 % and 91 %. The purpose of this study was to assess adherence to GFD and its relation to quality of life in Chilean celiac patients. METHODS: three surveys were performed on-line: sociodemographic-health status, adherence to GFD and quality of life. RESULTS: forty-eight per cent of respondents reported an excellent adherence to GFD and 49 % a good quality of life. CONCLUSIONS: adherence to GFD is low among Chilean celiac patients.


Asunto(s)
Enfermedad Celíaca , Calidad de Vida , Chile , Dieta Sin Gluten , Humanos , Cooperación del Paciente
8.
Development ; 144(1): 3-7, 2017 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-28049687

RESUMEN

Developmental biologists have become increasingly aware that the wealth of knowledge generated through genetic studies of pre-implantation mouse development might not easily be translated to the human embryo. Comparative studies have been fueled by recent technological advances in single-cell analysis, allowing in-depth analysis of the human embryo. This field could shortly gain more momentum as novel genome editing technologies might, for the first time, also allow functional genetic studies in the human embryo. In this Spotlight article, we summarize the CRISPR-Cas9 genome editing system and discuss its potential applications and limitations in human pre-implantation embryos, and the ethical considerations thereof.


Asunto(s)
Sistemas CRISPR-Cas/genética , Investigaciones con Embriones , Desarrollo Embrionario/genética , Edición Génica/ética , Edición Génica/estadística & datos numéricos , Edición Génica/tendencias , Animales , Investigaciones con Embriones/ética , Embrión de Mamíferos , Humanos
9.
J Musculoskelet Neuronal Interact ; 20(3): 332-338, 2020 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-32877970

RESUMEN

OBJECTIVE: Changes in body composition are a common feature of Huntington's disease (HD) and are associated with disease progression. However, whether these changes in body composition are associated with degeneration of the striatum is unknown. This study aimed to explore the associations between body composition metrics and striatal brain volume in individuals with premanifest HD and healthy controls. METHODS: Twenty-one individuals with premanifest HD and 22 healthy controls participated in this cross-sectional study. Body composition metrics were measured via dual-energy X-ray absorptiometry. Structural magnetic resonance imaging of subcortical structures of the brain was performed to evaluate striatal volume. RESULTS: There were no significant differences in body composition metrics between the premanifest HD and healthy controls group. Striatal volume was significantly reduced in individuals with premanifest HD compared to healthy controls. A significant association between bone mineral density (BMD) and right putamen volume was also observed in individuals with premanifest HD. CONCLUSION: These findings show striatal degeneration is evident during the premanifest stages of HD and associated with BMD. Additional longitudinal studies are nevertheless needed to confirm these findings.


Asunto(s)
Composición Corporal , Encéfalo/patología , Enfermedad de Huntington/patología , Absorciometría de Fotón , Adulto , Anciano , Densidad Ósea/fisiología , Estudios Transversales , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tamaño de los Órganos
10.
Lung ; 198(1): 207-211, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31720808

RESUMEN

The purpose of this study was to investigate the effects of air stacking (AS) and an expiratory muscle training (EMT) program to increase voluntary and reflex peak cough flow (PCF) in individuals with Parkinson's disease. Participants were allocated to the control (n = 11), EMT (n = 11), or EMT + AS group (n = 11). All groups performed EMT (5 sets of 5 repetitions), 6 times a week for 2 months. The control group used a fixed resistance, EMT plus AS and EMT groups used a progressively increased resistance. The EMT plus AS group additionally performed 10 series of three to four lung insufflations using a manual resuscitator bag. Voluntary and reflex PCF, maximum expiratory pressure, and slow vital capacity were assessed before and after training. EMT plus AS was more beneficial than EMT alone for improving reflex and voluntary PCF. The effect of the EMT plus AS was greater for reflex PCF than for voluntary PCF.


Asunto(s)
Ejercicios Respiratorios/métodos , Tos , Enfermedad de Parkinson/rehabilitación , Anciano , Femenino , Humanos , Masculino , Presiones Respiratorias Máximas , Persona de Mediana Edad , Ápice del Flujo Espiratorio , Terapia Respiratoria/métodos
11.
J Strength Cond Res ; 34(10): 2895-2902, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30036285

RESUMEN

Peñailillo, L, Aedo, C, Cartagena, M, Contreras, A, Reyes, A, Ramirez-Campillo, R, Earp, JE, and Zbinden-Foncea, H. Effects of eccentric cycling performed at long vs. short muscle lengths on heart rate, rate perceived effort, and muscle damage markers. J Strength Cond Res 34(10): 2895-2902, 2020-It is possible that the magnitude of muscle damage in eccentric cycling is dependent on seat position that could affect the muscle length changes during eccentric contractions. However, no previous study has investigated the effect of seat position on muscle damage and metabolic demand in eccentric exercise. Thus, this study compared 2 seating positions; seat forward in which knee extensor muscles were stretched longer (LONG) and seat back in which the muscles were stretched shorter (SHORT). Young men performed 30 minutes of eccentric cycling at 80% of maximal concentric power output at either LONG (n = 10) or SHORT (n = 10) condition. Heart rate and rate perceived effort (RPE) during exercise, changes in maximal voluntary isometric contraction (MVC) strength of the knee extensors, muscle soreness assessed by a visual analog scale (VAS), and pressure-pain threshold (PPT) before, immediately after, and 24-72 hours after exercise were compared between conditions. Heart rate and RPE were significantly greater in LONG than SHORT group (9.5 and 19.0%, respectively). Post-exercise reduction in MVC was 8.4-14.0% greater in LONG than SHORT group from immediately after to 48 hours after exercise. In addition, VAS was greater in LONG than SHORT group from 48 to 72 hours after exercise, and vastus medialis PPT was greater in SHORT than LONG group from 24 to 72 hours after exercise (p < 0.05). These results suggest that muscle damage and metabolic demand are greater when seat is set back than forward. Thus, when prescribing eccentric cycling to individuals who are unaccustomed to eccentric cycling, it is better to set the seat far from the pedals.


Asunto(s)
Ciclismo/fisiología , Músculo Esquelético/fisiología , Postura/fisiología , Adulto , Biomarcadores , Frecuencia Cardíaca/fisiología , Humanos , Contracción Isométrica/fisiología , Articulación de la Rodilla/fisiología , Masculino , Contracción Muscular/fisiología , Mialgia/fisiopatología , Consumo de Oxígeno/fisiología , Músculo Cuádriceps/fisiología , Adulto Joven
12.
Development ; 143(19): 3459-3469, 2016 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-27578796

RESUMEN

Leucine twenty homeobox (LEUTX) is a paired (PRD)-like homeobox gene that is expressed almost exclusively in human embryos during preimplantation development. We previously identified a novel transcription start site for the predicted human LEUTX gene based on the transcriptional analysis of human preimplantation embryos. The novel variant encodes a protein with a complete homeodomain. Here, we provide a detailed description of the molecular cloning of the complete homeodomain-containing LEUTX Using a human embryonic stem cell overexpression model we show that the complete homeodomain isoform is functional and sufficient to activate the transcription of a large proportion of the genes that are upregulated in human embryo genome activation (EGA), whereas the previously predicted partial homeodomain isoform is largely inactive. Another PRD-like transcription factor, DPRX, is then upregulated as a powerful repressor of transcription. We propose a two-stage model of human EGA in which LEUTX acts as a transcriptional activator at the 4-cell stage, and DPRX as a balancing repressor at the 8-cell stage. We conclude that LEUTX is a candidate regulator of human EGA.


Asunto(s)
Blastocisto/metabolismo , Células Madre Embrionarias/metabolismo , Proteínas de Homeodominio/metabolismo , Isoformas de Proteínas/metabolismo , Animales , Línea Celular , Ensayo de Cambio de Movilidad Electroforética , Técnica del Anticuerpo Fluorescente Indirecta , Regulación del Desarrollo de la Expresión Génica , Proteínas de Homeodominio/genética , Humanos , Ratones , Reacción en Cadena de la Polimerasa , Isoformas de Proteínas/genética
13.
Acta Neurol Scand ; 138(6): 500-507, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30058184

RESUMEN

OBJECTIVE: The primary objective of this trial was to evaluate the effects of outpatient multidisciplinary therapy, compared to usual care, on measures of physical function and muscle strength in patients with manifest Huntington's disease (HD). METHODS: Twenty-two patients with clinically verified HD were randomized to receive 36 weeks of outpatient multidisciplinary therapy or usual care. Outpatient multidisciplinary therapy comprised 9 months of supervised exercise, cognitive therapy and self-directed home-based exercise. Usual care consisted of standard medical care. Patients were assessed at 0 and 36 weeks by blinded assessors. The primary outcome was changed in mobility as measured by the 10-m Timed Walk Test. Secondary outcome measures included changes in manual dexterity (Timed Nut and Bolt Test), balance (Berg Balance Scale), cardiorespiratory endurance (6-Minute Walk Test) and upper and lower extremity muscle strength (isokinetic and isometric muscle strength and 10 Repetition Sit-to-Stand Tests). RESULTS: Patients receiving outpatient multidisciplinary therapy demonstrated significantly enhanced manual dexterity (P < 0.05) and lower extremity muscle strength (P < 0.05) than patients receiving usual care. No significant differences in mobility, balance, cardiorespiratory endurance and upper extremity strength outcomes were observed between groups after the intervention period. There were no adverse events associated with multidisciplinary therapy. CONCLUSION: Our findings suggest that outpatient multidisciplinary therapy has positive effects on manual dexterity and muscle strength, but no meaningful effects on mobility, balance, cardiorespiratory endurance and upper extremity muscle strength in patients with HD. Larger randomized controlled trials are needed to confirm these preliminary findings.


Asunto(s)
Terapia Cognitivo-Conductual/métodos , Terapia por Ejercicio/métodos , Enfermedad de Huntington/rehabilitación , Femenino , Humanos , Masculino , Persona de Mediana Edad
14.
Clin Rehabil ; 32(10): 1317-1327, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29756459

RESUMEN

OBJECTIVE: To compare the effects of an inspiratory versus and expiratory muscle-training program on voluntary and reflex peak cough flow in patients with Parkinson disease. DESIGN: A randomized controlled study. SETTING: Home-based training program. PARTICIPANTS: In all, 40 participants with diagnosis of Parkinson's disease were initially recruited in the study and randomly allocated to three study groups. Of them, 31 participants completed the study protocol (control group, n = 10; inspiratory training group, n = 11; and expiratory training group, n = 10) Intervention: The inspiratory and expiratory group performed a home-based inspiratory and expiratory muscle-training program, respectively (five sets of five repetitions). Both groups trained six times a week for two months using a progressively increased resistance. The control group performed expiratory muscle training using the same protocol and a fixed resistance. MAIN MEASURES: Spirometric indices, maximum inspiratory pressure, maximum expiratory pressure, and peak cough flow during voluntary and reflex cough were assessed before and at two months after training. RESULTS: The magnitude of increase in maximum expiratory pressure ( d = 1.40) and voluntary peak cough flow ( d = 0.89) was greater for the expiratory muscle-training group in comparison to the control group. Reflex peak cough flow had a moderate effect ( d = 0.27) in the expiratory group in comparison to the control group. Slow vital capacity ( d = 0.13) and forced vital capacity ( d = 0.02) had trivial effects in the expiratory versus the control group. CONCLUSIONS: Two months of expiratory muscle-training program was more beneficial than inspiratory muscle-training program for improving maximum expiratory pressure and voluntary peak cough flow in patients with Parkinson's disease.


Asunto(s)
Ejercicios Respiratorios/métodos , Enfermedad de Parkinson/rehabilitación , Anciano , Tos/fisiopatología , Tos/rehabilitación , Espiración , Femenino , Humanos , Inhalación , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/fisiopatología , Pruebas de Función Respiratoria , Músculos Respiratorios/fisiología , Espirometría
15.
Clin Rehabil ; 29(10): 961-73, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25552526

RESUMEN

OBJECTIVE: To examine the effects of 4-month of respiratory muscle training on pulmonary and swallowing function, exercise capacity and dyspnoea in manifest patients with Huntington's disease. DESIGN: A pilot randomised controlled trial. SETTING: Home based training program. PARTICIPANTS: Eighteen manifest Huntington's disease patients with a positive genetic test and clinically verified disease expression, were randomly assigned to control group (n=9) and training group (n=9). INTERVENTION: Both groups received home-based inspiratory (5 sets of 5 repetitions) and expiratory (5 sets of 5 repetitions) muscle training 6 times a week for 4 months. The control group used a fixed resistance of 9 centimeters of water, and the training group used a progressively increased resistance from 30% to 75% of each patient's maximum respiratory pressure. MAIN MEASURES: Spirometric indices, maximum inspiratory pressure, maximum expiratory pressure, six minutes walk test, dyspnoea, water-swallowing test and swallow quality of life questionnaire were assessed before, at 2 and 4 months after training. RESULTS: The magnitude of increases in maximum inspiratory (d=2.9) and expiratory pressures (d=1.5), forced vital capacity (d=0.8), forced expiratory volume in 1 second (d=0.9) and peak expiratory flow (d=0.8) was substantially greater for the training group in comparison to the control group. Changes in swallowing function, dyspnoea and exercise capacity were small (d ≤ 0.5) for both groups without substantial differences between groups. CONCLUSIONS: A home-based respiratory muscle training program appeared to be beneficial to improve pulmonary function in manifest Huntington's disease patients but provided small effects on swallowing function, dyspnoea and exercise capacity.


Asunto(s)
Ejercicios Respiratorios/métodos , Trastornos de Deglución/rehabilitación , Disnea/rehabilitación , Tolerancia al Ejercicio/fisiología , Enfermedad de Huntington/rehabilitación , Ventilación Voluntaria Máxima/fisiología , Adulto , Anciano , Deglución/fisiología , Trastornos de Deglución/etiología , Disnea/etiología , Femenino , Servicios de Atención de Salud a Domicilio , Humanos , Enfermedad de Huntington/complicaciones , Masculino , Persona de Mediana Edad , Proyectos Piloto , Espirometría , Australia Occidental
16.
BMC Pulm Med ; 14: 89, 2014 May 26.
Artículo en Inglés | MEDLINE | ID: mdl-24886346

RESUMEN

BACKGROUND: Huntington's disease (HD) is a neurodegenerative disorder characterized by progressive motor, cognitive and psychiatric disturbances. Chest muscle rigidity, respiratory muscle weakness, difficulty in clearing airway secretions and swallowing abnormalities have been described in patients with neurodegenerative disorders including HD. However limited information is available regarding respiratory function in HD patients. The purpose of this study was to investigate pulmonary function of patients with HD in comparison to healthy volunteers, and its association with motor severity. METHODS: Pulmonary function measures were taken from 18 (11 male, 7 female) manifest HD patients (53 ± 10 years), and 18 (10 male, 8 female) healthy volunteers (52 ± 11 years) with similar anthropometric and life-style characteristics to the recruited HD patients. Motor severity was quantified by the Unified Huntington's Disease Rating Scale-Total Motor Score (UHDRS-TMS). Maximum respiratory pressure was measured on 3 separate days with a week interval to assess test-retest reliability. RESULTS: The test-retest reliability of maximum inspiratory and expiratory pressure measurements was acceptable for both HD patient and control groups (ICC ≥0.92), but the values over 3 days were more variable in the HD group (CV < 11.1%) than in the control group (CV < 7.6%). The HD group showed lower respiratory pressure, forced vital capacity, peak expiratory flow and maximum voluntary ventilation than the control group (p < 0.05). Forced vital capacity, maximum voluntary ventilation and maximum respiratory pressures were negatively (r = -0.57; -0.71) correlated with the UHDRS-TMS (p < 0.05). CONCLUSION: Pulmonary function is decreased in manifest HD patients, and the magnitude of the decrease is associated with motor severity.


Asunto(s)
Progresión de la Enfermedad , Enfermedad de Huntington/diagnóstico , Desempeño Psicomotor , Espirometría/métodos , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ápice del Flujo Espiratorio , Valores de Referencia , Reproducibilidad de los Resultados , Pruebas de Función Respiratoria , Medición de Riesgo , Índice de Severidad de la Enfermedad , Capacidad Vital
17.
Top Stroke Rehabil ; : 1-14, 2024 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-38507234

RESUMEN

BACKGROUND: Preliminary evidence suggests that eccentric strength training (ECC) improves muscle strength and postural control in individuals with stroke; however, the evidence about the effects of ECC in people living with stroke has not been systematically analyzed. OBJECTIVE: To determine the effects of ECC, compared to other exercise modalities (i.e., concentric training), on motor function in individuals with stroke. METHODS: This scoping review was performed according to PRISMA extension for scoping reviews. Until March 2023, a comprehensive search of studies using ECC intervention to improve motor functions in individuals with stroke was performed. Study designs included were randomized and non-randomized controlled trials and quasi-experimental studies using MEDLINE, Web of Science, Rehabilitation & Sports Medicine, PEDro, and OTSeeker databases. Two independent reviewers selected articles based on title and abstract and extracted relevant information from the eligible studies. The results were qualitatively synthesized, and the critical appraisal was performed using the Rob 2.0 and Robins-I tools. RESULTS: Ten studies, with 257 individuals, were analyzed. ECC revealed positive effects on muscle strength, muscular activity, balance, gait speed, and functionality, mainly compared with concentric training, physical therapy, and daily routine. No significant adverse events were reported during ECC. The critical appraisal of individual articles ranged from some to high concern. CONCLUSION: ECC had a greater and positive effect on motor function in individuals with stroke than other exercise modalities. However, the limited number of studies, variability of outcomes, and the risk of bias produced a low certainty of evidence.

18.
Eur J Clin Nutr ; 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38942896

RESUMEN

BACKGROUND/OBJECTIVE: The Relative Fat Mass (RFM) is an alternative index to body mass index (BMI) for estimating whole body fat percentage (BF%). Our aims were to determine the accuracy of the RFM for 1) identifying individuals with elevated BF% and, 2) estimating the BF% compared to Dual-energy X-ray absorptiometry (DXA) in a Chilean adult population. SUBJECTS/METHODS: Body composition was assessed by DXA in 270 healthy participants (125 women/145 men). Anthropometric measurements were assessed to calculate RFM and BMI. Receiver operating characteristic (ROC) curves were obtained to assess the sensitivity and specificity of both, RFM and BMI. Bland-Altman analysis between BF% measured by DXA vs. predicted BF% derived from RFM was performed to assess validity. Pearson´s correlation coefficients to analyze the association between BMI, RFM and DXA were also calculated. RESULTS: For RFM, the cut-off for elevated BF% was ≥22.7% for men and ≥32.4% for women and for BMI was ≥24.4 kg/m2 for men and ≥24.1 kg/m2 for women. The area under the ROC curve between RFM and BMI was not significantly different in men (0.970 vs. 0.959; p = 0.420) and women (0.946 vs. 0.942, p = 0.750). The Bland-Altman analysis showed that the estimation bias is more pronounced in men than in women. CONCLUSION: RFM is an accurate tool for identifying individuals with elevated BF%, although it was not as accurate as DXA for estimating the BF%. RFM may be an alternative method useful in primary care to select individuals for lifestyle counseling and in research to select patients for epidemiological studies.

19.
Antioxidants (Basel) ; 13(2)2024 Feb 04.
Artículo en Inglés | MEDLINE | ID: mdl-38397799

RESUMEN

Retinitis pigmentosa is a common cause of inherited blindness in adults, which in many cases is associated with an increase in the formation of reactive oxygen species (ROS) that induces DNA damage, triggering Poly-ADP-Ribose Polymerase 1 (PARP1) activation and leading to parthanatos-mediated cell death. Previous studies have shown that resveratrol (RSV) is a promising molecule that can mitigate PARP1 overactivity, but its low bioavailability is a limitation for medical use. This study examined the impact of a synthesized new acylated RSV prodrug, piceid octanoate (PIC-OCT), in the 661W cell line against H2O2 oxidative stress and in rd10 mice. PIC-OCT possesses a better ADME profile than RSV. In response to H2O2, 661W cells pretreated with PIC-OCT preserved cell viability in more than 38% of cells by significantly promoting SIRT1 nuclear translocation, preserving NAD+/NADH ratio, and suppressing intracellular ROS formation. These effects result from expressing antioxidant genes, maintaining mitochondrial function, reducing PARP1 nuclear expression, and preventing AIF nuclear translocation. In rd10 mice, PIC-OCT inhibited PAR-polymer formation, increased SIRT1 expression, significantly reduced TUNEL-positive cells in the retinal outer nuclear layer, preserved ERGs, and enhanced light chamber activity (all p values < 0.05). Our findings corroborate that PIC-OCT protects photoreceptors by modulating the SIRT1/PARP1 axis in models of retinal degeneration.

20.
Artículo en Inglés | MEDLINE | ID: mdl-36901247

RESUMEN

BACKGROUND: A progressive volitional cycling test is useful in determining exercise prescription in populations with cardiovascular and metabolic diseases. However, little is known about the association between heart rate during this test and endothelial dysfunction (EDys) parameters in hypertensive (HTN) patients. OBJECTIVE: To investigate the association between EDys markers (flow-mediated dilation [FMD], pulse wave velocity of the brachial artery [PWVba], and carotid-intima media thickness [cIMT]) and heart rate during a cycling test in HTN adults. A secondary aim was to characterize cardiovascular, anthropometric, and body composition outcomes in this population. METHODS: This was a descriptive clinical study in which adults (men and women) were assigned to one of three groups: HTN, elevated blood pressure (Ele), or a normotensive control group (CG), and completed a progressive cycling test. The primary outcomes were FMD, PWVba, cIMT, and heart rate (HR) at 25-50 watts (HR25-50), 50-100 watts (HR50-100), and 75-150 watts (HR75-150) of the Astrand test. Secondary outcomes included body mass index (BMI), waist circumference, body fat percentage (BF%), skeletal muscle mass (SMM), resting metabolic rate (RMR), and estimated body age, as measured by a bio-impedance digital scale. RESULTS: Analyses of the associations between FMD, PWV, and HR25-50, HR50-100, and HR75-150 watts revealed no significant association in the HTN, Ele, and CG groups. However, a significant association was found between cIMT and HR75-150 watts in the HTN group (R2 47.1, ß -0.650, p = 0.038). There was also a significant trend (p = 0.047) towards increasing PWVba in the CG, Ele, and HTN groups. CONCLUSION: Heart rate during a progressive cycling test is associated with the EDys parameters cIMT in HTN patients, with particularly strong predictive capacity for vascular parameters in the second and third stages of the Astrand exercise test compared to normotensive control.


Asunto(s)
Grosor Intima-Media Carotídeo , Hipertensión , Masculino , Humanos , Adulto , Femenino , Frecuencia Cardíaca , Análisis de la Onda del Pulso , Chile , Dilatación Patológica
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