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Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for various developmental and physiological functions. Although its dysfunction is increasingly recognized in abnormal phenotypes, to our knowledge, there have been no established reports of human diseases directly linked to HDAC3 dysfunction. Using trio exome sequencing and extensive phenotypic analysis, we correlated heterozygous de novo variants in HDAC3 with a neurodevelopmental disorder having variable clinical presentations, frequently associated with intellectual disability, developmental delay, epilepsy, and musculoskeletal abnormalities. In a cohort of six individuals, we identified missense variants in HDAC3 (c.277G>A [p.Asp93Asn], c.328G>A [p.Ala110Thr], c.601C>T [p.Pro201Ser], c. 797T>C [p.Leu266Ser], c.799G>A [p.Gly267Ser], and c.1075C>T [p.Arg359Cys]), all located in evolutionarily conserved sites and confirmed as de novo. Experimental studies identified defective deacetylation activity in the p.Asp93Asn, p.Pro201Ser, p.Leu266Ser, and p.Gly267Ser variants, positioned near the enzymatic pocket. In addition, proteomic analysis employing co-immunoprecipitation revealed that the disrupted interactions with molecules involved in the CoREST and NCoR complexes, particularly in the p.Ala110Thr variant, consist of a central pathogenic mechanism. Moreover, immunofluorescence analysis showed diminished nuclear to cytoplasmic fluorescence ratio in the p.Ala110Thr, p.Gly267Ser, and p.Arg359Cys variants, indicating impaired nuclear localization. Taken together, our study highlights that de novo missense variants in HDAC3 are associated with a broad spectrum of neurodevelopmental disorders, which emphasizes the complex role of HDAC3 in histone deacetylase activity, multi-protein complex interactions, and nuclear localization for proper physiological functions. These insights open new avenues for understanding the molecular mechanisms of HDAC3-related disorders and may inform future therapeutic strategies.
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Epigênese Genética , Histona Desacetilases , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento , Humanos , Histona Desacetilases/genética , Histona Desacetilases/metabolismo , Mutação de Sentido Incorreto/genética , Transtornos do Neurodesenvolvimento/genética , Masculino , Feminino , Pré-Escolar , Criança , Deficiência Intelectual/genética , Sequenciamento do Exoma , Adolescente , Deficiências do Desenvolvimento/genética , Fenótipo , Lactente , Correpressor 1 de Receptor Nuclear/genética , Correpressor 1 de Receptor Nuclear/metabolismoRESUMO
The purpose of this study was to determine the efficacy of an online self-tracking program on physical activity, glycated hemoglobin, and other health measures in patients with type 2 diabetes. Seventy-two patients with type 2 diabetes were randomly assigned to an intervention or control group. All participants received usual care. The intervention group received an activity tracker (Fitbit Zip) connected to an online lifestyle program. Physical activity was analyzed in average steps per day from week 0 until 12. Health outcome measurements occurred in both groups at baseline and after 13 weeks. Results indicated that the intervention group significantly increased physical activity with 1.5 ± 3 days per week of engagement in 30 minutes of moderate-vigorous physical activity versus no increase in the control group (P = .047). Intervention participants increased activity with 1255 ± 1500 steps per day compared to their baseline (P < .010). No significant differences were found in glycated hemoglobin A1c, with the intervention group decreasing -0.28% ± 1.03% and the control group showing -0.0% ± 0.69% (P = .206). Responders (56%, increasing minimally 1000 steps/d) had significantly decreased glycated hemoglobin compared with nonresponders (-0.69% ± 1.18% vs 0.22% ± 0.47%, respectively; P = .007). To improve effectiveness of eHealth programs, additional strategies are needed.
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Diabetes Mellitus Tipo 2/epidemiologia , Exercício Físico , Monitores de Aptidão Física , Promoção da Saúde/métodos , Idoso , Feminino , Hemoglobinas Glicadas/metabolismo , Humanos , Internet , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Avaliação de Programas e Projetos de SaúdeRESUMO
BACKGROUND: The combination of self-tracking and persuasive eCoaching in automated interventions is a new and promising approach for healthy lifestyle management. OBJECTIVE: The aim of this study was to identify key components of self-tracking and persuasive eCoaching in automated healthy lifestyle interventions that contribute to their effectiveness on health outcomes, usability, and adherence. A secondary aim was to identify the way in which these key components should be designed to contribute to improved health outcomes, usability, and adherence. METHODS: The scoping review methodology proposed by Arskey and O'Malley was applied. Scopus, EMBASE, PsycINFO, and PubMed were searched for publications dated from January 1, 2013 to January 31, 2016 that included (1) self-tracking, (2) persuasive eCoaching, and (3) healthy lifestyle intervention. RESULTS: The search resulted in 32 publications, 17 of which provided results regarding the effect on health outcomes, 27 of which provided results regarding usability, and 13 of which provided results regarding adherence. Among the 32 publications, 27 described an intervention. The most commonly applied persuasive eCoaching components in the described interventions were personalization (n=24), suggestion (n=19), goal-setting (n=17), simulation (n=17), and reminders (n=15). As for self-tracking components, most interventions utilized an accelerometer to measure steps (n=11). Furthermore, the medium through which the user could access the intervention was usually a mobile phone (n=10). The following key components and their specific design seem to influence both health outcomes and usability in a positive way: reduction by setting short-term goals to eventually reach long-term goals, personalization of goals, praise messages, reminders to input self-tracking data into the technology, use of validity-tested devices, integration of self-tracking and persuasive eCoaching, and provision of face-to-face instructions during implementation. In addition, health outcomes or usability were not negatively affected when more effort was requested from participants to input data into the technology. The data extracted from the included publications provided limited ability to identify key components for adherence. However, one key component was identified for both usability and adherence, namely the provision of personalized content. CONCLUSIONS: This scoping review provides a first overview of the key components in automated healthy lifestyle interventions combining self-tracking and persuasive eCoaching that can be utilized during the development of such interventions. Future studies should focus on the identification of key components for effects on adherence, as adherence is a prerequisite for an intervention to be effective.
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Promoção da Saúde/métodos , Telemedicina , Humanos , Estilo de Vida , Comunicação PersuasivaRESUMO
In phenylketonuria (PKU), cerebral neurotransmitter deficiencies have been suggested to contribute to brain dysfunction. Present treatment aims to reduce blood phenylalanine concentrations by a phenylalanine-restricted diet, while in some patients blood phenylalanine concentrations also respond to cofactor treatment with tetrahydrobiopterin (BH4). Recently, a repurposing approach of BH4 was suggested to increase cerebral neurotransmitter synthesis. To investigate whether BH4 may improve cerebral dopamine concentrations in PKU patients beyond its effect through lowering blood phenylalanine concentrations, we investigated blood prolactin concentrations-as a parameter of brain dopamine availability. We retrospectively compared blood prolactin in relation to blood phenylalanine concentrations of nine (male) BH4-responsive PKU patients, when being treated without and with BH4. Blood prolactin concentrations positively correlated to blood phenylalanine concentrations (p=0.002), being significantly lower with than without BH4 treatment (p=0.047). In addition, even in this small number of male patients, blood prolactin concentrations tended to be lower at increasing BH4 dose (p=0.054), while taking blood phenylalanine concentrations into account (p=0.002). In individual BH4-responsive patients, median blood prolactin concentrations were significantly lower while using BH4 than before using BH4 treatment (p=0.024), whereas median blood phenylalanine concentrations tended to be lower, but this did not reach statistical significance (p=0.107). Therefore, these data show that high blood phenylalanine in BH4-responsive PKU male patients seems to be associated with increased blood prolactin concentrations, suggesting reduced cerebral dopamine availability. Moreover, these data suggest that BH4 treatment in itself could decrease blood prolactin concentrations in a dose-responsive way, independent of blood phenylalanine concentrations. We conclude that these preliminary data indicate that BH4 treatment may improve cerebral dopamine concentrations in PKU patients beyond its effect through lowering blood phenylalanine concentrations, possibly in a dose-dependent manner, but further research would be warranted.
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Biopterinas/análogos & derivados , Encéfalo/metabolismo , Dopamina/metabolismo , Fenilcetonúrias/tratamento farmacológico , Fenilcetonúrias/metabolismo , Prolactina/sangue , Adolescente , Adulto , Biopterinas/uso terapêutico , Criança , Feminino , Humanos , Masculino , Fenilcetonúrias/sangue , Estudos RetrospectivosRESUMO
BACKGROUND: The etiology of reduced bone mineral density (BMD) in phenylketonuria (PKU) is unknown. Reduced BMD may be inherent to PKU and/or secondary to its dietary treatment. MATERIALS AND METHODS: Lumbar BMD was measured by dual-energy X-ray absorptiometry in 53 early and continuously treated PKU patients (median age 16, range 2-35 years). First, Z-scores of BMD were correlated to age group, clinical severity of PKU, mean phenylalanine (Phe) concentration and Phe variation in the year prior to DXA scanning, as well as to blood vitamin, mineral, and alkaline phosphatase concentrations. Second, parameters were compared between subjects with reduced BMD (Z-score<-2 SD) and subjects with normal BMD. RESULTS: BMD was significantly reduced in our cohort (p=0.000). Z-scores of BMD were neither significantly correlated to age group, nor clinical severity of PKU. Both mean Phe concentration and Phe variation in the year prior to DXA scanning did not significantly correlate with Z-scores of BMD. Higher blood calcium concentrations were significantly associated with lower BMD (r(2)=-0.485, p=0.004). Other biochemical parameters, including vitamin B12 availability markers, did not show significant correlations with Z-score of BMD. Subjects with reduced BMD had significantly higher blood phosphorus concentrations than subjects with normal BMD (p=0.009). No other significant differences were found between both BMD groups. CONCLUSION: Reduced BMD in PKU is present from early age onward and does not progress with age. Therefore, BMD deserves attention from early age onward in PKU patients. Our findings are consistent with increased bone turnover in PKU. It remains unclear whether reduced BMD is inherent to PKU and/or secondary to its dietary treatment.
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Densidade Óssea , Vértebras Lombares/metabolismo , Fenilcetonúrias/fisiopatologia , Absorciometria de Fóton , Adolescente , Adulto , Fosfatase Alcalina/metabolismo , Cálcio/metabolismo , Criança , Pré-Escolar , Estudos Transversais , Dieta , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fenilalanina/sangue , Estudos Retrospectivos , Deficiência de Vitamina B 12 , Adulto JovemRESUMO
BACKGROUND: Individuals' self-tracking of subjectively experienced phenomena related to health can be challenging, as current options for instrumentation often involve too much effort in the moment or rely on retrospective self-reporting, which is likely to impair accuracy and compliance. OBJECTIVE: This study aims to assess the usability and perceived usefulness of low-effort, in-the-moment self-tracking using simple instrumentation and to establish the amount of support needed when using this approach. METHODS: In this exploratory study, the One Button Tracker-a press-button device that records time stamps and durations of button presses-was used for self-tracking. A total of 13 employees of an academic medical center chose a personal research question and used the One Button Tracker to actively track specific subjectively experienced phenomena for 2 to 4 weeks. To assess usability and usefulness, we combined qualitative data from semistructured interviews with quantitative results from the System Usability Scale. RESULTS: In total, 29 barriers and 15 facilitators for using the One Button Tracker were found. Ease of use was the most frequently mentioned facilitator. The One Button Tracker's usability received a median System Usability Scale score of 75.0 (IQR 42.50), which is considered as good usability. Participants experienced effects such as an increased awareness of the tracked phenomenon, a confirmation of personal knowledge, a gain of insight, and behavior change. Support and guidance during all stages of the self-tracking process were judged as valuable. CONCLUSIONS: The low-effort, in-the-moment self-tracking of subjectively experienced phenomena has been shown to support personal knowledge gain and health behavior change for people with an interest in health promotion. After addressing barriers and formally validating the collected data, self-tracking devices may well be helpful for additional user types or health questions.
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The response to our publication by Andrew Viner and Stewart Ayrey is much appreciated [...].
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Saúde Pública , Água , Ventiladores MecânicosRESUMO
Using Parkinson's disease as an exemplary chronic condition, this Commentary discusses ethical aspects of using self-tracking for personal science, as compared to using self-tracking in the context of conducting clinical research on groups of study participants. Conventional group-based clinical research aims to find generalisable answers to clinical or public health questions. The aim of personal science is different: to find meaningful answers that matter first and foremost to an individual with a particular health challenge. In the case of personal science, the researcher and the participant are one and the same, which means that specific ethical issues may arise, such as the need to protect the participant against self-harm. To allow patient-led research in the form of personal science in the Parkinson field to evolve further, the development of a specific ethical framework for self-tracking for personal science is needed.
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Doença de Parkinson , Autocuidado , Estudos Clínicos como Assunto , Humanos , Doença de Parkinson/terapia , Publicações , Autocuidado/éticaRESUMO
BACKGROUND: During the SARS-CoV-2 pandemic, there was shortage of the standard respiratory protective equipment (RPE). The aim of this study was to develop a procedure to test the performance of alternative RPEs used in the care of COVID-19 patients. METHODS: A laboratory-based test was developed to compare RPEs by total inward leakage (TIL). We used a crossflow nebulizer to produce a jet spray of 1-100 µm water droplets with a fluorescent marker. The RPEs were placed on a dummy head and sprayed at distances of 30 and 60 cm. The outcome was determined as the recovery of the fluorescent marker on a membrane filter placed on the mouth of the dummy head. RESULTS: At 30 cm, a type IIR surgical mask gave a 17.7% lower TIL compared with an FFP2 respirator. At 60 cm, this difference was similar, with a 21.7% lower TIL for the surgical mask compared to the respirator. When adding a face shield, the TIL at 30 cm was further reduced by 9.5% for the respirator and 16.6% in the case of the surgical mask. CONCLUSIONS: A safe, fast and very sensitive test method was developed to assess the effectiveness of RPE by comparison under controlled conditions.
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COVID-19/prevenção & controle , Transmissão de Doença Infecciosa do Paciente para o Profissional/prevenção & controle , Máscaras/normas , Equipamento de Proteção Individual/normas , Dispositivos de Proteção Respiratória/normas , Aerossóis/efeitos adversos , Humanos , Exposição Ocupacional/prevenção & controle , SARS-CoV-2 , Ventiladores Mecânicos , ÁguaRESUMO
Notwithstanding the success of the traditional dietary phenylalanine restriction treatment in phenylketonuria (PKU), the use of large neutral amino acid (LNAA) supplementation rather than phenylalanine restriction has been suggested. This treatment modality deserves attention as it might improve cognitive outcome and quality of life in patients with PKU. Following various theories about the pathogenesis of cognitive dysfunction in PKU, LNAA supplementation may have multiple treatment targets: a specific reduction in brain phenylalanine concentrations, a reduction in blood (and consequently brain) phenylalanine concentrations, an increase in brain neurotransmitter concentrations, and an increase in brain essential amino acid concentrations. These treatment targets imply different treatment regimes. This review summarizes the treatment targets and the treatment regimens of LNAA supplementation and discusses the differences in LNAA intake between the classical dietary phenylalanine-restricted diet and several LNAA treatment forms.
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Aminoácidos Neutros/uso terapêutico , Modelos Teóricos , Fenilcetonúrias/dietoterapia , Prática Profissional , Animais , Suplementos Nutricionais , Alimentos Formulados , Humanos , RacionalizaçãoRESUMO
Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation. We report two patients who presented with acute liver failure and were referred to our center for liver transplantation work-up. Urgent metabolic investigations revealed citrullinemia type I. Treatment for citrullinemia type I avoided the need for liver transplantation. Acute liver failure as a presentation of citrullinemia type I has not previously been reported in young children. Although acute liver failure has occasionally been described in other urea cycle disorders, these disorders may be underestimated as a cause. Timely diagnosis and treatment of these disorders may avoid liver transplantation and improve clinical outcome. Therefore, urea cycle disorders should be included in the differential diagnosis in young children presenting with acute liver failure.
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Citrulinemia/complicações , Falência Hepática Aguda/etiologia , Transplante de Fígado , Procedimentos Desnecessários , Administração Oral , Arginina/administração & dosagem , Biomarcadores/sangue , Células Cultivadas , Citrulinemia/sangue , Citrulinemia/diagnóstico , Citrulinemia/terapia , Diagnóstico Diferencial , Dieta com Restrição de Proteínas , Quimioterapia Combinada , Feminino , Glucose/administração & dosagem , Humanos , Lactente , Infusões Intravenosas , Falência Hepática Aguda/sangue , Falência Hepática Aguda/diagnóstico , Falência Hepática Aguda/terapia , Masculino , Valor Preditivo dos Testes , Benzoato de Sódio/administração & dosagem , Resultado do TratamentoRESUMO
BACKGROUND: Kidneys obtained from donors after cardiac death are damaged by the combination of warm and cold ischemia. Although the parenchymal damage of these kidneys is well studied, little is known about the functional effects of warm and cold ischemia on the renal vascular bed. We compared kidney preservation using the new extracellular-type cold storage solution from Institut Georges Lopez (IGL-1) with the University of Wisconsin solution (UW) and focused on vasomotor functions. METHODS: The influence of warm and cold ischemia on vasomotor functions was studied in an isolated perfused kidney model. Six groups of donation after cardiac death donor kidneys were studied with warm ischemia of 0, 15, and 30 min followed by 0 or 24 h cold storage preservation in IGL-1 or UW at 4 degrees C. Endothelial dependent vasodilation was studied using acetylcholine, smooth muscle cell (SMC) constriction was assessed using phenylephrine, and finally endothelial independent relaxation was tested using papaverine-sulfate. RESULTS: SMCs were significantly affected by cold ischemia showing a 50% reduction of phenylephrine mediated constriction after preservation. Additional warm ischemia did not affect SMCs. After UW preservation endothelial dependent vasodilation was only significantly reduced when the combination of warm and cold ischemia was present. IGL-1 preserved kidneys showed a reduction in endothelial dependent vasodilation after isolated warm ischemia. Both preservation solutions rendered equal results after 24 h preservation. CONCLUSION: Vasomotor functions are negatively influenced by the combination of warm and cold ischemia. Both IGL-1 and UW performed equally in preserving vasomotor functions. The interesting finding of the rapid decline of SMC function might point at the first step toward intimal hyperplasia as seen in late transplant dysfunction.
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Endotélio Vascular/fisiopatologia , Músculo Liso Vascular/fisiopatologia , Soluções para Preservação de Órgãos , Circulação Renal/fisiologia , Adenosina , Alopurinol , Animais , Cadáver , Temperatura Baixa , Glutationa , Insulina , Isquemia/fisiopatologia , Rim/fisiologia , Rim/fisiopatologia , Masculino , Rafinose , Ratos , Ratos Endogâmicos F344 , Reperfusão , Doadores de Tecidos , Coleta de Tecidos e Órgãos/métodos , Vasoconstrição/fisiologiaRESUMO
BACKGROUND: The Dutch professional nursing standard of 2012 stipulates that Dutch nursing practices are to be evidence-based. Not all practicing nurses can satisfy these requirements, therefore, an educational programme about Evidence-Based Practice (EBP) was developed for a Dutch teaching hospital. OBJECTIVE: The aim of this study was to measure the effects of a six month in-house EBP programme on knowledge, skills, attitudes, and perceived barriers of nurses (four European Credits equals two US Credit Hours). METHODS: A multiple-cohort study was conducted with a pre-post-test design. In the period of 2011-2015, a total of 58 nurses (9 cohorts) followed the programme. Baseline and follow-up assessments consisted of three questionnaires each: the Dutch Modified Fresno, the two subscales of the McColl questionnaire, and the BARRIER scale to assess knowledge and skills, attitudes, and perceived barriers, respectively. RESULTS: Fifty nurses completed both assessments. The results demonstrated that actual knowledge and skills significantly increased by approximately 40%. Self-perceived knowledge increased significantly, while attitudes towards EBP remained (moderately) positive. Perceived barriers did not notably change except for the Research subscale which received many "no opinion" responses prior to the programme but fewer afterwards. CONCLUSIONS: Our multifaceted in-house EBP programme led to a significant improvement of approximately 40% in EBP knowledge and skills of participating nurses. Most nurses who followed the EBP programme are currently applying their knowledge and skills in practice. Managerial support and allocated time for EBP are important facilitators for its implementation. Furthermore, to maintain and expand nurses' EBP knowledge and skills and translate them into practice, follow-up interventions, such as journal clubs, may well be beneficial. Based on the positive results of our programme, we will implement it throughout the hospital with an emphasis on training more groups of nurses.
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Atitude do Pessoal de Saúde , Prática Clínica Baseada em Evidências/educação , Conhecimentos, Atitudes e Prática em Saúde , Adulto , Competência Clínica , Estudos de Coortes , Feminino , Humanos , Masculino , Países Baixos , Enfermeiras e Enfermeiros/psicologia , Inquéritos e QuestionáriosRESUMO
BACKGROUND: A lack of physical activity is considered to cause 6% of deaths globally. Feedback from wearables such as activity trackers has the potential to encourage daily physical activity. To date, little research is available on the natural development of adherence to activity trackers or on potential factors that predict which users manage to keep using their activity tracker during the first year (and thereby increasing the chance of healthy behavior change) and which users discontinue using their trackers after a short time. OBJECTIVE: The aim of this study was to identify the determinants for sustained use in the first year after purchase. Specifically, we look at the relative importance of demographic and socioeconomic, psychological, health-related, goal-related, technological, user experience-related, and social predictors of feedback device use. Furthermore, this study tests the effect of these predictors on physical activity. METHODS: A total of 711 participants from four urban areas in France received an activity tracker (Fitbit Zip) and gave permission to use their logged data. Participants filled out three Web-based questionnaires: at start, after 98 days, and after 232 days to measure the aforementioned determinants. Furthermore, for each participant, we collected activity data tracked by their Fitbit tracker for 320 days. We determined the relative importance of all included predictors by using Random Forest, a machine learning analysis technique. RESULTS: The data showed a slow exponential decay in Fitbit use, with 73.9% (526/711) of participants still tracking after 100 days and 16.0% (114/711) of participants tracking after 320 days. On average, participants used the tracker for 129 days. Most important reasons to quit tracking were technical issues such as empty batteries and broken trackers or lost trackers (21.5% of all Q3 respondents, 130/601). Random Forest analysis of predictors revealed that the most influential determinants were age, user experience-related factors, mobile phone type, household type, perceived effect of the Fitbit tracker, and goal-related factors. We explore the role of those predictors that show meaningful differences in the number of days the tracker was worn. CONCLUSIONS: This study offers an overview of the natural development of the use of an activity tracker, as well as the relative importance of a range of determinants from literature. Decay is exponential but slower than may be expected from existing literature. Many factors have a small contribution to sustained use. The most important determinants are technical condition, age, user experience, and goal-related factors. This finding suggests that activity tracking is potentially beneficial for a broad range of target groups, but more attention should be paid to technical and user experience-related aspects of activity trackers.
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PURPOSE: To examine the test-retest reliability and validity of ten activity trackers for step counting at three different walking speeds. METHODS: Thirty-one healthy participants walked twice on a treadmill for 30 min while wearing 10 activity trackers (Polar Loop, Garmin Vivosmart, Fitbit Charge HR, Apple Watch Sport, Pebble Smartwatch, Samsung Gear S, Misfit Flash, Jawbone Up Move, Flyfit, and Moves). Participants walked three walking speeds for 10 min each; slow (3.2 km·h), average (4.8 km·h), and vigorous (6.4 km·h). To measure test-retest reliability, intraclass correlations (ICC) were determined between the first and second treadmill test. Validity was determined by comparing the trackers with the gold standard (hand counting), using mean differences, mean absolute percentage errors, and ICC. Statistical differences were calculated by paired-sample t tests, Wilcoxon signed-rank tests, and by constructing Bland-Altman plots. RESULTS: Test-retest reliability varied with ICC ranging from -0.02 to 0.97. Validity varied between trackers and different walking speeds with mean differences between the gold standard and activity trackers ranging from 0.0 to 26.4%. Most trackers showed relatively low ICC and broad limits of agreement of the Bland-Altman plots at the different speeds. For the slow walking speed, the Garmin Vivosmart and Fitbit Charge HR showed the most accurate results. The Garmin Vivosmart and Apple Watch Sport demonstrated the best accuracy at an average walking speed. For vigorous walking, the Apple Watch Sport, Pebble Smartwatch, and Samsung Gear S exhibited the most accurate results. CONCLUSION: Test-retest reliability and validity of activity trackers depends on walking speed. In general, consumer activity trackers perform better at an average and vigorous walking speed than at a slower walking speed.
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Acelerometria/instrumentação , Monitores de Aptidão Física , Velocidade de Caminhada/fisiologia , Adulto , Desenho de Equipamento , Teste de Esforço , Feminino , Humanos , Masculino , Estudos Prospectivos , Reprodutibilidade dos TestesRESUMO
OBJECTIVE: To systematically assess contemporary knowledge regarding behavioral physical activity interventions including an activity monitor (BPAI+) in adults with overweight or obesity. METHODS: PubMed/MEDLINE, Embase, CINAHL, PsycINFO, CENTRAL, and PEDro were searched for eligible full-text articles up to 1 July 2015. Studies eligible for inclusion were (randomized) controlled trials describing physical activity outcomes in adults with overweight or obesity. Methodological quality was independently assessed employing the Cochrane Collaboration's tool for risk of bias. RESULTS: Fourteen studies (1,157 participants) were included for systematic review and 11 for meta-analysis. A positive trend in BPAI+ effects on several measures of physical activity was ascertained compared with both wait list or usual care and behavioral physical activity interventions without an activity monitor (BPAI-). No convincing evidence of BPAI+ effectiveness on weight loss was found compared with BPAI-. CONCLUSIONS: Behavioral physical activity interventions with an activity monitor increase physical activity in adults with overweight or obesity. Also, adding an activity monitor to behavioral physical activity interventions appears to increase the effect on physical activity, although current evidence has not yet provided conclusive evidence for its effectiveness.
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Terapia Comportamental/métodos , Exercício Físico , Comportamentos Relacionados com a Saúde , Obesidade/terapia , Adulto , Dieta Redutora , Humanos , Sobrepeso/terapia , Redução de PesoRESUMO
To unravel the role of gene mutations in the healthy and the diseased state, countless studies have tried to link genotype with phenotype. However, over the years, it became clear that the strain of mice can influence these results. Nevertheless, identical gene mutations in different strains are often still considered equals. An example of this, is the research done in phenylketonuria (PKU), an inheritable metabolic disorder. In this field, a PKU mouse model (either on a BTBR or C57Bl/6 background) is often used to examine underlying mechanisms of the disease and/or new treatment strategies. Both strains have a point mutation in the gene coding for the enzyme phenylalanine hydroxylase which causes toxic concentrations of the amino acid phenylalanine in blood and brain, as found in PKU patients. Although the mutation is identical and therefore assumed to equally affect physiology and behavior in both strains, no studies directly compared the two genetic backgrounds to test this assumption. Therefore, this study compared the BTBR and C57Bl/6 wild-type and PKU mice on PKU-relevant amino acid- and neurotransmitter-levels and at a behavioral level. The behavioral paradigms were selected from previous literature on the PKU mouse model and address four domains, namely (1) activity levels, (2) motor performance, (3) anxiety and/or depression-like behavior, and (4) learning and memory. The results of this study showed comparable biochemical changes in phenylalanine and neurotransmitter concentrations. In contrast, clear differences in behavioral outcome between the strains in all four above-mentioned domains were found, most notably in the learning and memory domain. The outcome in this domain seem to be primarily due to factors inherent to the genetic background of the mouse and much less by differences in PKU-specific biochemical parameters in blood and brain. The difference in behavioral outcome between PKU of both strains emphasizes that the consequence of the PAH mutation is influenced by other factors than Phe levels alone. Therefore, future research should consider these differences when choosing one of the genetic strains to investigate the pathophysiological mechanism underlying PKU-related behavior, especially when combined with new treatment strategies.
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In phenylketonuria, elevated plasma phenylalanine concentrations may disturb blood-to-brain large neutral amino acid (LNAA) transport and cerebral protein synthesis (CPS). We investigated the associations between these processes, using data obtained by positron emission tomography with l-[1-(11)C]-tyrosine ((11)C-Tyr) as a tracer. Blood-to-brain transport of non-Phe LNAAs was modeled by the rate constant for (11)C-Tyr transport from arterial plasma to brain tissue (K1), while CPS was modeled by the rate constant for (11)C-Tyr incorporation into cerebral protein (k3). Brain phenylalanine concentrations were measured by magnetic resonance spectroscopy in three volumes of interest (VOIs): supraventricular brain tissue (VOI 1), ventricular brain tissue (VOI 2), and fluid-containing ventricular voxels (VOI 3). The associations between k3 and each predictor variable were analyzed by multiple linear regression. The rate constant k3 was inversely associated with brain phenylalanine concentrations in VOIs 2 and 3 (adjusted R(2)=0.826, F=19.936, P=0.021). Since brain phenylalanine concentrations in these VOIs highly correlated with each other, the specific associations of each predictor with k3 could not be determined. The associations between k3 and plasma phenylalanine concentration, K1, and brain phenylalanine concentrations in VOI 1 were nonsignificant. In conclusion, our study shows an inverse association between k3 and increased brain phenylalanine concentrations.
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Química Encefálica , Modelos Biológicos , Fenilalanina/sangue , Fenilcetonúrias/sangue , Tomografia por Emissão de Pósitrons , Biossíntese de Proteínas , Adulto , Barreira Hematoencefálica/diagnóstico por imagem , Barreira Hematoencefálica/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , RadiografiaRESUMO
UNLABELLED: Incidental findings on low-dose CT images obtained during hybrid imaging are an increasing phenomenon as CT technology advances. Understanding the diagnostic value of incidental findings along with the technical limitations is important when reporting image results and recommending follow-up, which may result in an additional radiation dose from further diagnostic imaging and an increase in patient anxiety. This study assessed lesions incidentally detected on CT images acquired for attenuation correction on two SPECT/CT systems. METHODS: An anthropomorphic chest phantom containing simulated lesions of varying size and density was imaged on an Infinia Hawkeye 4 and a Symbia T6 using the low-dose CT settings applied for attenuation correction acquisitions in myocardial perfusion imaging. Twenty-two interpreters assessed 46 images from each SPECT/CT system (15 normal images and 31 abnormal images; 41 lesions). Data were evaluated using a jackknife alternative free-response receiver-operating-characteristic analysis (JAFROC). RESULTS: JAFROC analysis showed a significant difference (P < 0.0001) in lesion detection, with the figures of merit being 0.599 (95% confidence interval, 0.568, 0.631) and 0.810 (95% confidence interval, 0.781, 0.839) for the Infinia Hawkeye 4 and Symbia T6, respectively. Lesion detection on the Infinia Hawkeye 4 was generally limited to larger, higher-density lesions. The Symbia T6 allowed improved detection rates for midsized lesions and some lower-density lesions. However, interpreters struggled to detect small (5 mm) lesions on both image sets, irrespective of density. CONCLUSION: Lesion detection is more reliable on low-dose CT images from the Symbia T6 than from the Infinia Hawkeye 4. This phantom-based study gives an indication of potential lesion detection in the clinical context as shown by two commonly used SPECT/CT systems, which may assist the clinician in determining whether further diagnostic imaging is justified.
Assuntos
Doses de Radiação , Radiografia Torácica , Tomografia Computadorizada por Raios X , Humanos , Processamento de Imagem Assistida por Computador , Achados Incidentais , Imagem de Perfusão do Miocárdio , Neoplasias/diagnóstico por imagem , Imagens de Fantasmas , Curva ROC , Tomografia Computadorizada de Emissão de Fóton ÚnicoRESUMO
Activity trackers like Fitbit are used for self-tracking of physical activity by an increasing number of individuals. Comparing physical activity scores with peers can contribute to the desired behavioural change. However, for meaningful social comparison a high inter-device reliability is paramount. This study aimed to determine the inter-device reliability of Fitbit activity trackers in measuring steps. Ten activity trackers (Fitbit Ultra) were worn by a single person (male, 46 years) during eight consecutive days. Inter-device reliability was assessed on three different levels of aggregation (minutes, hours, days) with various methods, including intra-class correlation coefficient (ICC), Bland-Altman plots, limits of agreement (LOA) and Mixed Model Analysis. Results showed that the inter-device reliability of the Fitbit in measuring steps is good at all levels of aggregation (minutes, hours, days), but especially when steps were measured per day. This implies that individuals can reliably compare their daily physical activity scores with peers.