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1.
Health Policy ; 145: 105082, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38781708

RESUMO

The COVID-19 pandemic is one of the most significant public health crises in modern history, with considerable impacts on the policy frameworks of national governments. In response to the pandemic, non-pharmaceutical interventions (NPIs) and mass vaccination campaigns have been employed to protect vulnerable groups. Through the lens of Political Budget Cycle (PBC) theory, this study explores the interplay between incumbent electoral concerns and political dynamics in influencing the implementation of NPIs and vaccination rollout within the administrative regions of Italy and Spain during the period spanning June 2020 to July 2021. The results reveal that incumbents up for the next scheduled election are 5.8 % more likely to increase the stringency of containment measures than those that face a term limit. The findings also demonstrate that the seats of the incumbent and coalition parties in parliament and the number of parties in the coalition have a negative effect on both the efficiency of the vaccination rollout and the stringency of NPIs. Additionally, the competitiveness of the election emerges as an important predictor of the strictness of NPIs. Therefore, our results suggest that incumbents may strategically manipulate COVID-19 policy measures to optimize electoral outcomes. The study underscores the substantive influence of political incentives, competitive electoral environments, and government coalitions on policy formulation during health emergencies.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Política de Saúde , Política , Humanos , COVID-19/prevenção & controle , COVID-19/epidemiologia , Espanha/epidemiologia , Itália , Vacinas contra COVID-19/provisão & distribuição , SARS-CoV-2 , Vacinação em Massa/organização & administração
2.
Int Wound J ; 21(3): e14750, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38468367

RESUMO

Effective exudate management is key for optimal ulcer healing. Superabsorbent dressings are designed to have high fluid handling capacity, reduced risk of exudate leakage, fluid retention under compression, and to sequester harmful exudate components. This study aimed to systematically identify existing evidence for the clinical efficacy and cost-effectiveness of superabsorbent dressings for the treatment of moderate-to-highly exudating chronic ulcers of various etiologies. The aim is focused on examining the 'class' effect of all superabsorbers, not any particular dressing. Clinical and cost effectiveness systematic reviews were conducted, searching Embase, MEDLINE, the Cochrane Library, and the Cumulative Index to Nursing and Allied Health Literature. The Cost Effectiveness Analysis Registry and Econ papers were also searched for the economic review. Outcomes of interest included ulcer closure, dressing properties, hospital- and infection-related outcomes, safety, and economic outcomes. Fourteen studies were included in the clinical systematic review. Eleven were case series, with one randomised controlled trial, one retrospective matched observational study, and one retrospective cohort study. The studies investigated eight superabsorbent dressings and were heterogeneous in their patient population and outcomes. Superabsorbent dressings may result in favourable outcomes, including reductions in frequency of dressing change and pain scores. As most studies were case series, drawing firm conclusions was difficult due to absence of a comparator arm. The economic systematic review identified seven studies, five of which were cost-utility analyses. These suggested superabsorbent dressings are a more cost-effective option for the treatment of chronic ulcers compared with standard dressings. However, the small number and low quality of studies identified in both reviews highlights the need for future research.

3.
Healthcare (Basel) ; 12(5)2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38470707

RESUMO

BACKGROUND: Guatemala remains one of the poorest countries in Central America and suffers from high rates of social inequality and violence. In addition to the negative impact that two years without attending school has had on Guatemalan children due to the consequences of the COVID-19 pandemic, this unfavourable socioeconomic context poses a risk to children's emotional and cognitive development. This work presents a protocol for implementing a cognitive and emotional stimulation program aimed at increasing the academic performance of these children and consequently improving their quality of life. METHODS: The protocol proposes the implementation of a randomized controlled trial to assess the efficacy of a 24-session-long stimulation program. It targets the cognitive functions of attention, language, executive functions, and social cognition, using the digital neurorehabilitation platform NeuronUP. The participants (n = 480) will be randomly assigned to an Experimental or Control group. Pre- and post-intervention assessments will be carried out, together with a follow-up in the next academic year, in which both groups will change roles. Results will be compared for the first and second years, looking for differences in academic and cognitive performance between groups. DISCUSSION: Mid- and long-term outcomes are still unknown, but effective interventions based on this protocol are expected to facilitate the following benefits for participants: (1) improved cognitive and emotional development; (2) improved academic performance; (3) improved well-being. We expect to create a validated neuropsychological stimulation program that could be applied in similar socioeconomically disadvantaged contexts around the world to help these children improve their life chances.

4.
Health Econ Policy Law ; : 1-16, 2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-38264962

RESUMO

The Australian health system is characterised by high quality care by international standards, produced by a mix of public and private provision and funding of healthcare services. Despite good overall results, three issues are of concern. The first issue relates to the public procurement of healthcare, whose flaws have impacted individuals' access to care, and the high out-of-pocket spending. The second issue concerns the sustainability of the private health insurance market, given the government's goal of relieving cost and capacity from the public scheme, incentivising participation. Third, there are existing inefficiencies and inequities related to the duplication resulting from the interaction between public and private schemes. To ensure a sustainable, efficient and equitable health system, structural reforms are necessary to achieve long-term performance improvements. Using a framework for mixed public-private health systems, we assess the extent to which the Australian healthcare system achieves preconditions for efficiency and affordability in competitive healthcare markets.

5.
Sensors (Basel) ; 23(9)2023 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-37177733

RESUMO

Immersive virtual reality (IVR) uses customized and advanced software and hardware to create a digital 3D reality in which all of the user's senses are stimulated with computer-generated sensations and feedback. This technology is a promising tool that has already proven useful in Parkinson's disease (PD). The risk of falls is very high in people with PD, and reaction times and processing speed may be markers of postural instability and functionality, cognitive impairment and disease progression. An exploratory study was conducted to explore the feasibility of reaction time tests performed in IVR as predictors of falls. A total of 26 volunteers (79.2% male; 69.73 ± 6.32 years) diagnosed with PD (1.54 ± 0.90 H&Y stage; 26.92 ± 2.64 MMSE) took part in the study. IVR intervention was feasible, with no adverse effects (no Simulator Sickness Questionnaire symptoms). IVR reaction times were related (Spearman's rho) to functionality (timed up and go test (TUG) (rho = 0.537, p = 0.005); TUG-Cognitive (rho = 0.576, p = 0.020); cognitive impairment mini mental state exam (MMSE) (rho = -0.576, p = 0.002)) and the years of the patients (rho = 0.399, p = 0.043) but not with the first PD symptom or disease stage. IVR test is a complementary assessment tool that may contribute to preventing falls in the proposed sample. Additionally, based on the relationship between TUG and reaction times, a cut-off time is suggested that would be effective at predicting the risk of suffering a fall in PD patients using a simple and quick IVR test.


Assuntos
Doença de Parkinson , Realidade Virtual , Humanos , Masculino , Feminino , Doença de Parkinson/diagnóstico , Tempo de Reação , Equilíbrio Postural , Estudos de Tempo e Movimento
6.
Clin Genet ; 104(1): 100-106, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37121912

RESUMO

Spondyloepimetaphyseal dysplasia (SEMD), RPL13-related is caused by heterozygous variants in RPL13, which encodes the ribosomal protein eL13, a component of the 60S human ribosomal subunit. Here, we describe the clinical and radiological evolution of 11 individuals, 7 children and 4 adults, from 6 families. Some of the skeletal features improved during the course of this condition, whilst others worsened. We describe for the first time "corner fractures" as a feature of this dysplasia which as with other dysplasias disappear with age. In addition, we review the heights and skeletal anomalies of these reported here and previously in a total of 25 individuals from 15 families. In this study, six different RPL13 variants were identified, five of which were novel. All were located in the apparently hotspot region, located in intron 5 and exon 6. Splicing assays were performed for two of the three previously undescribed splicing variants. Until now, all splice variants have occurred in the intron 5 splice donor site, incorporating an additional 18 amino acids to the mutant protein. Here, we report the first variant in intron 5 splice acceptor site which generates two aberrant transcripts, deleting the first three and four amino acids encoded by exon 6. Thus, this study doubles the number of SEMD-RPL13-related cases and variants reported to date and describes unreported age-related clinical and radiological features.


Assuntos
Osteocondrodisplasias , Proteínas Ribossômicas , Criança , Adulto , Humanos , Proteínas Ribossômicas/genética , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Radiografia , Éxons , Aminoácidos , Proteínas de Neoplasias
7.
Sensors (Basel) ; 22(18)2022 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-36146092

RESUMO

One of the pillars which underpins active aging is found in the performance of physical activity. While adherence to physical activity programs has traditionally been low in older people, immersive virtual reality (IVR) could provide an alternative and complementary training mode. A randomized clinical trial was conducted to explore the feasibility and effects of a 10-week IVR exergame program on physical functions of 24 institutionalized older adults who were allocated to an experimental group (EG n = 13; 85.08 ± 8.48 years) and control group (CG n = 11; 84.82 ± 8.10 years). The IVR intervention was feasible, with no adverse effects being reported (no Simulator Sickness Questionnaire symptoms; low negative experience scores on the Game Experience Questionnaire < 0.34/4), no dropouts, high adherence, and good post-gaming usability (System Usability Scale > 73.96%). The EG showed significant improvements: Tinetti scores for balance (1.84 ± 1.06; p < 0.001), gait (1.00 ± 1.08; p < 0.001), total score (2.84 ± 1.67; p < 0.001), and handgrip (4.96 ± 4.22; p < 0.001) (pre−post assessment). The CG showed significantly worsened compared to the EG: Five times sit-to-stand test, Tinetti scores for balance, gait, and total score, and the Timed Up and Go test total score (post-assessment). The findings show that the IVR intervention is a feasible method to approach a personalized exercise program and an effective way by which to improve physical function in the target population.


Assuntos
Equilíbrio Postural , Realidade Virtual , Idoso , Terapia por Exercício/métodos , Jogos Eletrônicos de Movimento , Estudos de Viabilidade , Força da Mão , Humanos , Estudos de Tempo e Movimento
8.
J Clin Med ; 11(13)2022 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-35807196

RESUMO

Physical exercise has been recognized as an important strategy in the promotion of healthy aging. Positive effects on older adults' motor ability are brought about by engaging their motor skills and promoting sensorimotor learning and cortical plasticity. These processes could be increased with the use of immersive virtual reality (IVR) technology, since the multisensory stimulation is greater. The aim of this study was to explore the usability and balance effects of an IVR exercise program in community-dwelling nonagenarian people. A sample of 12 women were allocated to an experimental group (EG n = 6; 91.67 ± 1.63 years) and a control group (CG n = 6; 90.83 ± 2.64 years). For 10 weeks, the EG used a commercial IVR exergame three times a week. All the sample completed the program without adverse effects (without Simulator Sickness Questionnaire symptoms). Post-gaming usability was good (System Usability Scale 78.33). The EG improved some balance parameters significantly (Tinetti test: balance (10.97 %; Sig = 0.017), gait (9.23%; Sig = 0.047) and total score (10.20%; Sig = 0.014) and maintained total TUG test times (-0.45%)). There were significant differences between groups (Tinetti test: balance (Sig = 0.004) and total score (Sig = 0.0032)). We successfully demonstrated that IVR training is feasible and is an effective and personalized method to enhance balance and to reduce the risk of falls in community-dwelling nonagenarian women.

9.
Sensors (Basel) ; 22(9)2022 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-35590992

RESUMO

Parkinson's disease (PD) is a neurological disorder that usually appears in the 6th decade of life and affects up to 2% of older people (65 years and older). Its therapeutic management is complex and includes not only pharmacological therapies but also physiotherapy. Exercise therapies have shown good results in disease management in terms of rehabilitation and/or maintenance of physical and functional capacities, which is important in PD. Virtual reality (VR) could promote physical activity in this population. We explore whether a commercial wearable head-mounted display (HMD) and the selected VR exergame could be suitable for people with mild-moderate PD. In all, 32 patients (78.1% men; 71.50 ± 11.80 years) were a part of the study. Outcomes were evaluated using the Simulator Sickness Questionnaire (SSQ), the System Usability Scale (SUS), the Game Experience Questionnaire (GEQ post-game module), an ad hoc satisfaction questionnaire, and perceived effort. A total of 60 sessions were completed safely (without adverse effects (no SSQ symptoms) and with low scores in the negative experiences of the GEQ (0.01-0.09/4)), satisfaction opinions were positive (88% considered the training "good" or "very good"), and the average usability of the wearable HMD was good (75.16/100). Our outcomes support the feasibility of a boxing exergame combined with a wearable commercial HMD as a suitable physical activity for PD and its applicability in different environments due to its safety, usability, low cost, and small size. Future research is needed focusing on postural instability, because it seems to be a symptom that could have an impact on the success of exergaming programs aimed at PD.


Assuntos
Doença de Parkinson , Realidade Virtual , Dispositivos Eletrônicos Vestíveis , Idoso , Exercício Físico , Terapia por Exercício/métodos , Feminino , Humanos , Masculino , Doença de Parkinson/reabilitação
10.
J Tissue Viability ; 31(3): 523-530, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35534319

RESUMO

Venous leg ulcers (VLUs) are the most common hard-to-heal ulcers associated with the high humanistic and economic burden. Especially clinically challenging are moderate-to-highly exuding venous leg ulcers, and current management guidelines recommend several different wound dressings for this indication. The study aimed to determine the cost-effectiveness of managing moderate-to-highly exuding venous leg ulcers with superabsorbent wound dressings versus foams dressings in French settings from Haute Autorité de Santé perspective. For evidence synthesis decision-analytic model was developed in line with international and French good modelling practices recommendations. All model inputs were informed by data identified through systematic literature reviews that, in our best knowledge, represent the best available evidence at this moment. According to the prediction from this early stage health economic evaluation, using superabsorbent wound dressings versus foam dressings mix in patients with moderate-to-highly exuding leg ulcers in French settings will result in an improved healing rate of 2.58%, incremental HRQoL of 0.143 QALWs and total direct cost savings of € 435 (USD 473) per patient over six months period. The clinical outcomes results from this evaluation are in line with management guidelines that have recommended superabsorbent wound dressings as a first-line choice in the therapy of moderate-to-highly exuding venous leg ulcers. In addition, this evaluation demonstrates that using superabsorbent wound dressings will also lead to economic savings from the Haute Autorité de Santé perspective.


Assuntos
Úlcera da Perna , Úlcera Varicosa , Bandagens , Análise Custo-Benefício , Humanos , Úlcera da Perna/terapia , Úlcera Varicosa/tratamento farmacológico , Cicatrização
11.
J Clin Med ; 11(3)2022 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-35160134

RESUMO

The Pilates Method is a rehabilitation tool with verified benefits in pain management, physical function, and quality of life in many different physiotherapy areas. It could be beneficial for patients with multiple sclerosis (pwMS). The aim of the study was to summarize current evidence for the effectiveness of Pilates in pwMS. A comprehensive search of Cinahl, Scopus, Web of Science, PEDro, and PubMed (including PubMed Central and Medline) was conducted to examine randomized controlled trials (RCT) that included Pilates intervention in multiple sclerosis. The PEDro scale and the Cochrane risk-of-bias tool, RoB-2, were used to evaluate risk of bias for RCT. Twenty RCT (999 patients) were included. Ten were of good quality (PEDro), and seven had low risk of bias (RoB-2). Pilates improves balance, gait, physical-functional conditions (muscular strength, core stability, aerobic capacity, and body composition), and cognitive functions. Fatigue, quality of life, and psychological function did not show clear improvement. There was good adherence to Pilates intervention (average adherence ≥ 80%). Cumulative data suggest that Pilates can be a rehabilitation tool for pwMS. High adherence and few adverse effects were reported. Future research is needed to develop clinical protocols that could maximize therapeutic effects of Pilates for pwMS.

12.
Health Policy Technol ; 11(2): 100594, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34976711

RESUMO

Objectives: This paper presents an overview of the vaccination campaigns in France, Israel, Italy and Spain during the first eleven months from the first COVID-19 vaccine approval (Dec 2020 - Nov 2021). These four countries were chosen as they share similar socioeconomic, and epidemiological profiles and adopted similar vaccination strategies. Methods: A rapid review of available primary data from each country was conducted. Data were collected from official government documents whenever possible, supplemented by information from international databases and local reports. The data were analysed via descriptive and graphical analysis to identify common patterns as well as significant divergences in the structural changes of countries' healthcare systems during the pandemic, outcomes of the vaccination roll-out, and their impact on contextual policies. Results: The four countries adopted similar interventions to protect and strengthen their healthcare systems. The effective coordination between the governance levels, ability to ensure a large supply of doses, and trust towards health authorities were amongst the determinants for more successful vaccination outcomes. The analysis reports a positive impact of the COVID-19 vaccines on epidemiological, political and economic outcomes. We observed some evidence of a negative association between increased vaccine coverage and fatalities and hospitalisation trends. Conclusions: The strengths and weaknesses of COVID-19 pandemic crisis management along with the various strategies surrounding the vaccination roll-out campaigns may yield lessons for policymakers amidst such decisions, including for future pandemics. Lay summary: This paper presents an overview of the vaccination campaigns in France, Israel, Italy and Spain during the first eleven months following approval of the first COVID-19 vaccine (Dec 2020 - Nov 2021). These four countries were chosen as they share similar demographic, socioeconomic, and epidemiological profiles, and adopted similar vaccinations strategies. Effective coordination between governance levels, ability to ensure a large supply of doses, and trust towards health authorities were amongst the determinants for successful outcomes of vaccination campaigns. The strengths and weaknesses of COVID-19 pandemic crisis management, along with the various strategies surrounding the vaccination roll-out campaigns may yield lessons for policymakers amidst such decisions, including for future pandemics.

13.
Conserv Biol ; 36(3): e13842, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-34705299

RESUMO

Natural forest regrowth is a cost-effective, nature-based solution for biodiversity recovery, yet different socioenvironmental factors can lead to variable outcomes. A critical knowledge gap in forest restoration planning is how to predict where natural forest regrowth is likely to lead to high levels of biodiversity recovery, which is an indicator of conservation value and the potential provisioning of diverse ecosystem services. We sought to predict and map landscape-scale recovery of species richness and total abundance of vertebrates, invertebrates, and plants in tropical and subtropical second-growth forests to inform spatial restoration planning. First, we conducted a global meta-analysis to quantify the extent to which recovery of species richness and total abundance in second-growth forests deviated from biodiversity values in reference old-growth forests in the same landscape. Second, we employed a machine-learning algorithm and a comprehensive set of socioenvironmental factors to spatially predict landscape-scale deviation and map it. Models explained on average 34% of observed variance in recovery (range 9-51%). Landscape-scale biodiversity recovery in second-growth forests was spatially predicted based on socioenvironmental landscape factors (human demography, land use and cover, anthropogenic and natural disturbance, ecosystem productivity, and topography and soil chemistry); was significantly higher for species richness than for total abundance for vertebrates (median range-adjusted predicted deviation 0.09 vs. 0.34) and invertebrates (0.2 vs. 0.35) but not for plants (which showed a similar recovery for both metrics [0.24 vs. 0.25]); and was positively correlated for total abundance of plant and vertebrate species (Pearson r = 0.45, p = 0.001). Our approach can help identify tropical and subtropical forest landscapes with high potential for biodiversity recovery through natural forest regrowth.


Predicción de la Recuperación de la Biodiversidad a Escala de Paisaje según la Regeneración Natural del Bosque Tropical Resumen La regeneración natural del bosque es una solución rentable para la recuperación de la biodiversidad basada en la naturaleza, sin embargo, los diferentes factores socioambientales pueden derivar en resultados variables. Cómo predecir la ubicación en donde la regeneración natural del bosque recuperará los niveles de biodiversidad, los cuales son un indicador del valor de la conservación y un suministro potencial de diferentes servicios ambientales, es un vacío de conocimiento importante en la planeación de la restauración forestal. Buscamos predecir y mapear la recuperación a escala de paisaje de la riqueza de especies y la abundancia total de vertebrados, invertebrados y plantas en bosques tropicales y subtropicales de segundo crecimiento para guiar la planeación de la restauración. Primero, realizamos un metaanálisis mundial para cuantificar la medida a la que se desvió la recuperación de la riqueza y la abundancia total de especies en los bosques de segundo crecimiento de los valores de biodiversidad en los bosques antiguos referenciales en el mismo paisaje. Después, utilizamos un algoritmo de aprendizaje automático y un conjunto integral de factores socioambientales para predecir espacialmente la desviación a escala de paisaje para después mapearla. Los modelos explicaron en promedio el 34% de la varianza observada en la recuperación (rango de 9-51%). La recuperación de la biodiversidad a escala de paisaje en los bosques de segundo crecimiento pudo predecirse espacialmente con base en los factores socioambientales del paisaje (demografía humana, uso y cobertura del suelo, alteraciones naturales y antropogénicas, productividad del ecosistema, tipo de topografía y de suelo); fue significativamente más alta para la riqueza de especies que para la abundancia total de vertebrados (desviación media pronosticada ajustada al rango de 0.09 versus 0.34) e invertebrados (0.2 versus 0.35) pero no para las plantas (las cuales mostraron una recuperación similar para ambas medidas [0.24 versus 0.25]); y tuvo una correlación positiva para la abundancia de especies de plantas y vertebrados (Pearson r =0.45, p=0.001). Nuestra estrategia puede ayudar a identificar los paisajes de bosques tropicales y subtropicales con un potencial alto para la recuperación de la biodiversidad por medio de la regeneración natural del bosque.


Assuntos
Conservação dos Recursos Naturais , Ecossistema , Animais , Biodiversidade , Florestas , Humanos , Invertebrados , Plantas , Solo , Clima Tropical
14.
ISA Trans ; 128(Pt B): 11-20, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34887067

RESUMO

This paper introduces a novel methodology to detect and identify faults for a class of autonomous nonlinear systems. In the proposed design, a fuzzy extended system observer (FESO) based on the Mandami-type fuzzy system is used to estimate the fault that is considered to be the extended system state. In this method, the Mamdani-type fuzzy system is based on a single-input single-output (SISO) where the observer error is considered as the fuzzy input variable. Additionally, the stability analysis under Lyapunov criteria verifies that the solutions of proposed FESO are ultimately bounded. Finally, simulation examples are given to corroborate the feasibility of the proposed FESO.

15.
Eur J Endocrinol ; 185(5): 691-705, 2021 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-34516402

RESUMO

OBJECTIVE: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. DESIGN: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. METHODS: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. RESULTS: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n = 10) and IHH (n = 7) whilst one variant was detected in COL2A1, CREBBP, EXT1, and PTPN11. Statistically significant differences (P < 0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio standard deviation score (SDS), and the SH/H ratio SDS >1 in those with an identified variant compared to those without. CONCLUSIONS: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.


Assuntos
Estatura/genética , Osso e Ossos/anormalidades , Nanismo/genética , Osteocondrodisplasias/genética , Adolescente , Antropometria , Criança , Pré-Escolar , Feminino , Variação Genética , Lâmina de Crescimento/anormalidades , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Linhagem , Prevalência
16.
Sensors (Basel) ; 21(14)2021 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-34300565

RESUMO

Video games have proven useful in physical rehabilitation therapy. Accessibility, however, is limited for some groups such as the elderly or patients with Parkinson's disease (PD). We explore the potential of fully immersive video games as a rehabilitation tool in PD patients. Four patients with mild-moderate PD (3 males:1 female, 53-71 years) participated in the study. Training consisted in two immersive virtual reality video gaming sessions. Outcomes were evaluated using System Usability Scale (SUS), Simulator Sickness Questionnaire (SSQ), Game Experience Questionnaire-post game (GEQ), an ad hoc satisfaction questionnaire and perceived effort. All participants completed the sessions without adverse effects (100%), without SSQ symptoms reported. Post-gaming SUS was >75% in both sessions (range 75-80%). Post-gaming GEQ scores were 3.3-4.0/4 in both sessions. Immersive virtual reality video gaming is feasible in patients with mild-moderate PD, with positive usability and patient satisfaction, and no adverse effects.


Assuntos
Doença de Parkinson , Jogos de Vídeo , Realidade Virtual , Idoso , Feminino , Humanos , Masculino , Doença de Parkinson/diagnóstico , Satisfação do Paciente , Inquéritos e Questionários
17.
Front Genet ; 11: 518644, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33193602

RESUMO

In recent years, there has been a significant increase in whole genome sequencing data of individual genomes produced by research projects as well as direct to consumer service providers. While many of these sources provide their users with an interpretation of the data, there is a lack of free, open tools for generating reports exploring the data in an easy to understand manner. GenomeChronicler was developed as part of the Personal Genome Project UK (PGP-UK) to address this need. PGP-UK provides genomic, transcriptomic, epigenomic and self-reported phenotypic data under an open-access model with full ethical approval. As a result, the reports generated by GenomeChronicler are intended for research purposes only and include information relating to potentially beneficial and potentially harmful variants, but without clinical curation. GenomeChronicler can be used with data from whole genome or whole exome sequencing, producing a genome report containing information on variant statistics, ancestry and known associated phenotypic traits. Example reports are available from the PGP-UK data page (personalgenomes.org.uk/data). The objective of this method is to leverage existing resources to find known phenotypes associated with the genotypes detected in each sample. The provided trait data is based primarily upon information available in SNPedia, but also collates data from ClinVar, GETevidence, and gnomAD to provide additional details on potential health implications, presence of genotype in other PGP participants and population frequency of each genotype. The analysis can be run in a self-contained environment without requiring internet access, making it a good choice for cases where privacy is essential or desired: any third party project can embed GenomeChronicler within their off-line safe-haven environments. GenomeChronicler can be run for one sample at a time, or in parallel making use of the Nextflow workflow manager. The source code is available from GitHub (https://github.com/PGP-UK/GenomeChronicler), container recipes are available for Docker and Singularity, as well as a pre-built container from SingularityHub (https://singularity-hub.org/collections/3664) enabling easy deployment in a variety of settings. Users without access to computational resources to run GenomeChronicler can access the software from the Lifebit CloudOS platform (https://lifebit.ai/cloudos) enabling the production of reports and variant calls from raw sequencing data in a scalable fashion.

18.
Foods ; 9(2)2020 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-32069986

RESUMO

In vitro meat is a novel concept of food science and biotechnology. Methods to produce in vitro meat employ muscle cells cultivated on a scaffold in a serum-free medium using a bioreactor. The microstructure of the scaffold is a key factor, because muscle cells must be oriented to generate parallel alignments of fibers. This work aimed to develop a new scaffold (microstructured film) to grow muscle fibers. The microstructured edible films were made using micromolding technology. A micromold was tailor-made using a laser cutting machine to obtain parallel fibers with a diameter in the range of 70-90 µm. Edible films were made by means of solvent casting using non-mammalian biopolymers. Myoblasts were cultured on flat and microstructured films at three cell densities. Cells on the microstructured films grew with a muscle fiber morphology, but in the case of using the flat film, they only produced unorganized cell proliferation. Myogenic markers were assessed using quantitative polymerase chain reaction. After 14 days, the expression of desmin, myogenin, and myosin heavy chain were significantly higher in microstructured films compared to the flat films. The formation of fiber morphology and the high expression of myogenic markers indicated that a microstructured edible film can be used for the production of in vitro meat.

19.
Headache ; 58(10): 1541-1555, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30334248

RESUMO

OBJECTIVE: To evaluate factors associated naturalistically with adherence to a mobile headache diary. BACKGROUND: Self-monitoring (keeping a headache diary) is commonly used in headache to enhance diagnostic accuracy and evaluate the effectiveness of headache therapies. Mobile applications are increasingly used to facilitate keeping a headache diary. Little is known about the factors associated with adherence to mobile headache diaries. METHODS: In this naturalistic longitudinal cohort study, people with headache (n = 1561) registered to use Curelator Headache® (now called N1-Headache®), an application that includes a mobile headache diary, through their physician (coupon), or directly through the website or app store using either a paid or free version of the application. Participants completed baseline questionnaires and were asked to complete daily recordings of headache symptoms and other factors for at least 90 days. Baseline questionnaires included headache characteristics and migraine disability. Daily recordings included headache symptoms and anxiety ratings. Adherence to keeping the headache diary was conceptualized as completion (kept the headache diary for 90 days), adherence rate (proportion of diary days completed 90 days after registration), and completion delay (the number of days past 90 days after registration required to complete 90 days of headache diary). RESULTS: The majority of participants reported migraine as the most common headache type (90.0%), and reported an average of 30.8 headache days/90 days (SD = 24.2). One-third of participants completed 90 days of headache diary (32.4%). Endorsing higher daily anxiety scores (8/10 OR = 0.97 [95% CI = 0.96, 0.99]; 10/10 OR = 0.96 [95% CI = 0.91, 0.99]) was associated with lower odds of completion, whereas higher age (OR = 1.04 [95% CI = 1.03, 1.05]), and downloading the app paid vs free (OR = 4.27 [95% CI = 2.62, 7.06]), paid vs coupon (OR = 2.43, 95% CI = 1.41, 4.26]), or through a physician coupon vs free (OR = 1.75 [95% CI = 1.27, 2.42]) were associated with higher odds of completion. The median adherence rate at 90 days was 0.34 (IQR = 0.10-0.88), indicating that half of participants kept 34 or fewer days 90 diary days after registration. Endorsing high daily anxiety scores (5/10 OR = 0.98 [95% CI = 0.97, 1.00]; 8/10 OR = 0.96 [95% CI = 0.94, 0.98]; 10/10 OR = 0.96 [9% CI = 0.92, 0.98]) and higher age (OR = 1.05 [95% CI = 1.04, 1.07]) were associated with lower odds of adhering at 90 days, whereas downloading the app paid vs free (OR = 9.63 [95% CI = 4.61, 25.51]), paid vs coupon (OR = 2.39, 95% CI = 1.27, 5.10]), or through a physician coupon vs free (OR = 4.01 [95% CI = 2.54, 7.26]) were associated with higher odds of adhering at 90 days. Among completers, the median completion delay was 6.0 days (IQR = 2.0-15.0). Among completers, endorsing high daily anxiety scores (9/10 OR = 1/06 [95% CI = 1.01, 1.12]) and younger age (OR = 0.98 [95% CI = 0.97, 1.00]) was associated with completion delay; downloading the app through physician coupon vs free (OR = 0.40 [95% CI = 0.22, 0.71]) or paid vs free (OR = 0.38 [95% CI = 0.20, 0.72]) was associated with lower odds of completing 90 diary days in 90 calendar days. CONCLUSION: This naturalistic observational study confirmed evidence from clinical observation and research: adherence to mobile headache diaries is a challenge for a significant proportion of people with headache. Endorsing higher levels of daily anxiety, younger age, and downloading the app for free (vs either paying for the self-monitoring app or receiving a physician referral coupon) were associated with poorer adherence to keeping a mobile headache diary.


Assuntos
Ansiedade/epidemiologia , Cefaleia/epidemiologia , Prontuários Médicos , Aplicativos Móveis , Cooperação do Paciente , Dados de Saúde Gerados pelo Paciente , Reembolso de Incentivo , Adulto , Fatores Etários , Ansiedade/psicologia , Comorbidade , Custos e Análise de Custo , Feminino , Cefaleia/psicologia , Humanos , Internet , Estudos Longitudinais , Masculino , Prontuários Médicos/economia , Pessoa de Meia-Idade , Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/psicologia , Aplicativos Móveis/economia , Razão de Chances , Cooperação do Paciente/psicologia , Dados de Saúde Gerados pelo Paciente/economia , Smartphone , Inquéritos e Questionários
20.
Genome Biol ; 17(1): 251, 2016 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-27964752

RESUMO

BACKGROUND: Genomic studies of endangered species provide insights into their evolution and demographic history, reveal patterns of genomic erosion that might limit their viability, and offer tools for their effective conservation. The Iberian lynx (Lynx pardinus) is the most endangered felid and a unique example of a species on the brink of extinction. RESULTS: We generate the first annotated draft of the Iberian lynx genome and carry out genome-based analyses of lynx demography, evolution, and population genetics. We identify a series of severe population bottlenecks in the history of the Iberian lynx that predate its known demographic decline during the 20th century and have greatly impacted its genome evolution. We observe drastically reduced rates of weak-to-strong substitutions associated with GC-biased gene conversion and increased rates of fixation of transposable elements. We also find multiple signatures of genetic erosion in the two remnant Iberian lynx populations, including a high frequency of potentially deleterious variants and substitutions, as well as the lowest genome-wide genetic diversity reported so far in any species. CONCLUSIONS: The genomic features observed in the Iberian lynx genome may hamper short- and long-term viability through reduced fitness and adaptive potential. The knowledge and resources developed in this study will boost the research on felid evolution and conservation genomics and will benefit the ongoing conservation and management of this emblematic species.


Assuntos
Genética Populacional , Genoma , Lynx/genética , Animais , Espécies em Perigo de Extinção , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Anotação de Sequência Molecular , Análise de Sequência de DNA
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