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1.
J Neuroeng Rehabil ; 21(1): 117, 2024 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-39003469

RESUMO

BACKGROUND: Falls due to stumbling are prevalent for transfemoral prosthesis users and may lead to increased injury risk. This preliminary case series analyzes the transfemoral prosthesis user stumble recovery response to highlight key deficits in current commercially-available prostheses and proposes potential interventions to improve recovery outcomes. METHODS: Six transfemoral prosthesis users were perturbed on their prosthetic limb at least three times while walking on a treadmill using obstacle perturbations in early, mid and late swing. Kinematic data were collected to characterize the response, while fall rate and key kinematic recovery metrics were used to assess the quality of recovery and highlight functional deficits in current commercially-available prostheses. RESULTS: Across all participants, 13 (54%) of the 24 trials resulted in a fall (defined as > 50% body-weight support) with all but one participant (83%) falling at least once and two participants (33%) falling every time. In contrast, in a previous study of seven young, unimpaired, non-prosthesis users using the same experimental apparatus, no falls occurred across 190 trials. For the transfemoral prosthesis users, early swing had the highest rate of falling at 64%, followed by mid-swing at 57%, and then late swing at 33%. The trend in falls was mirrored by the kinematic recovery metrics (peak trunk angle, peak trunk angular velocity, forward reach of the perturbed limb, and knee angle at ground contact). In early swing all four metrics were deficient compared to non-prosthesis user controls. In mid swing, all but trunk angular velocity were deficient. In late swing only forward reach was deficient. CONCLUSION: Based on the stumble recovery responses, four potential deficiencies were identified in the response of the knee prostheses: (1) insufficient resistance to stance knee flexion upon ground contact; (2) insufficient swing extension after a perturbation; (3) difficulty initiating swing flexion following a perturbation; and (4) excessive impedance against swing flexion in early swing preventing the potential utilization of the elevating strategy. Each of these issues can potentially be addressed by mechanical or mechatronic changes to prosthetic design to improve quality of recovery and reduce the likelihood a fall.


Assuntos
Acidentes por Quedas , Membros Artificiais , Humanos , Acidentes por Quedas/prevenção & controle , Membros Artificiais/efeitos adversos , Masculino , Feminino , Fenômenos Biomecânicos , Adulto , Pessoa de Meia-Idade , Caminhada/fisiologia , Fêmur/fisiologia , Amputados/reabilitação , Marcha/fisiologia
2.
Clin Nutr ; 43(8): 1929-1940, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39018652

RESUMO

BACKGROUND & AIMS: Plant-based diets are associated with a lower risk of chronic diseases. Large-scale proteomics can identify objective biomarkers of plant-based diets, and improve our understanding of the pathways that link plant-based diets to health outcomes. This study investigated the plasma proteome of four different plant-based diets [overall plant-based diet (PDI), provegetarian diet, healthful plant-based diet (hPDI), and unhealthful plant-based diet (uPDI)] in the Atherosclerosis Risk in Communities (ARIC) Study and replicated the findings in the Framingham Heart Study (FHS) Offspring cohort. METHODS: ARIC Study participants at visit 3 (1993-1995) with completed food frequency questionnaire (FFQ) data and proteomics data were divided into internal discovery (n = 7690) and replication (n = 2543) data sets. Multivariable linear regression was used to examine associations between plant-based diet indices (PDIs) and 4955 individual proteins in the discovery sample. Then, proteins that were internally replicated in the ARIC Study were tested for external replication in FHS (n = 1358). Pathway overrepresentation analysis was conducted for diet-related proteins. C-statistics were used to predict if the proteins improved prediction of plant-based diet indices beyond participant characteristics. RESULTS: In ARIC discovery, a total of 837 diet-protein associations (PDI = 233; provegetarian = 182; hPDI = 406; uPDI = 16) were observed at false discovery rate (FDR) < 0.05. Of these, 453 diet-protein associations (PDI = 132; provegetarian = 104; hPDI = 208; uPDI = 9) were internally replicated. In FHS, 167/453 diet-protein associations were available for external replication, of which 8 proteins (PDI = 1; provegetarian = 0; hPDI = 8; uPDI = 0) replicated. Complement and coagulation cascades, cell adhesion molecules, and retinol metabolism were over-represented. C-C motif chemokine 25 for PDI and 8 proteins for hPDI modestly but significantly improved the prediction of these indices individually and collectively (P value for difference in C-statistics<0.05 for all tests). CONCLUSIONS: Using large-scale proteomics, we identified potential candidate biomarkers of plant-based diets, and pathways that may partially explain the associations between plant-based diets and chronic conditions.


Assuntos
Aterosclerose , Proteínas Sanguíneas , Dieta Baseada em Plantas , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aterosclerose/sangue , Aterosclerose/epidemiologia , Biomarcadores/sangue , Proteínas Sanguíneas/análise , Estudos de Coortes , Dieta Saudável/estatística & dados numéricos , Dieta Baseada em Plantas/estatística & dados numéricos , Estudos Prospectivos , Proteômica/métodos , Fatores de Risco
3.
Front Physiol ; 15: 1394650, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38915775

RESUMO

Efficient distribution of oxygen (O2) to the tissues in mammals depends on the evolved ability of red blood cell (RBC) hemoglobin (Hb) to sense not only O2 levels, but metabolic cues such as pH, PCO2, and organic phosphates, and then dispense or take up oxygen accordingly. O2 delivery is the product of not only oxygen release from RBCs, but also blood flow, which itself is also governed by vasoactive molecular mediators exported by RBCs. These vascular signals, including ATP and S-nitrosothiols (SNOs) are produced and exported as a function of the oxygen and metabolic milieu, and then fine-tune peripheral metabolism through context-sensitive vasoregulation. Emerging and repurposed RBC-oriented therapeutics can modulate either or both of these allosteric and vasoregulatory activities, with a single molecule or other intervention influencing both arms of O2 transport in some cases. For example, organic phosphate repletion of stored RBCs boosts the negative allosteric effector 2,3 biphosphoglycerate (BPG) as well as the anti-adhesive molecule ATP. In sickle cell disease, aromatic aldehydes such as voxelotor can disfavor sickling by increasing O2 affinity, and in newer generations, these molecules have been coupled to vasoactive nitric oxide (NO)-releasing adducts. Activation of RBC pyruvate kinase also promotes a left shift in oxygen binding by consuming and lowering BPG, while increasing the ATP available for cell health and export on demand. Further translational and clinical investigation of these novel allosteric and/or vasoregulatory approaches to modulating O2 transport are expected to yield new insights and improve the ability to correct or compensate for anemia and other O2 delivery deficits.

4.
Artigo em Inglês | MEDLINE | ID: mdl-38857746

RESUMO

Recent updates in nomenclature and diagnostic criteria encompass the diverse phenotypes associated with steatotic liver disease (SLD).1 These updates aim to reflect the current understanding of SLD, promote disease awareness and research, and reduce stigma. Notably, the term metabolic dysfunction-associated steatotic liver disease (MASLD) is defined as hepatic steatosis with at least 1 of 5 cardiometabolic criteria without any other cause of steatosis. A new category, MetALD, includes those with MASLD and high alcohol intake.1 We aimed to characterize SLD using this nomenclature in the Framingham Heart Study (FHS) and to quantify its association with cardiometabolic risk factors.

5.
J Am Heart Assoc ; 13(9): e032944, 2024 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-38700001

RESUMO

BACKGROUND: The relation of cardiorespiratory fitness (CRF) to lifestyle behaviors and factors linked with cardiovascular health remains unclear. We aimed to understand how the American Heart Association's Life's Essential 8 (LE8) score (and its changes over time) relate to CRF and complementary exercise measures in community-dwelling adults. METHODS AND RESULTS: Framingham Heart Study (FHS) participants underwent maximum effort cardiopulmonary exercise testing for direct quantification of peak oxygen uptake (V̇O2). A 100-point LE8 score was constructed as the average across 8 factors: diet, physical activity, nicotine exposure, sleep, body mass index, lipids, blood glucose, and blood pressure. We related total LE8 score, score components, and change in LE8 score over 8 years with peak V̇O2 (log-transformed) and complementary CRF measures. In age- and sex-adjusted linear models (N=1838, age 54±9 years, 54% women, LE8 score 76±12), a higher LE8 score was associated favorably with peak V̇O2, ventilatory efficiency, resting heart rate, and blood pressure response to exercise (all P<0.0001). A clinically meaningful 5-point higher LE8 score was associated with a 6.0% greater peak V̇O2 (≈1.4 mL/kg per minute at sample mean). All LE8 components were significantly associated with peak V̇O2 in models adjusted for age and sex, but blood lipids, diet, and sleep health were no longer statistically significant after adjustment for all LE8 components. Over an ≈8-year interval, a 5-unit increase in LE8 score was associated with a 3.7% higher peak V̇O2 (P<0.0001). CONCLUSIONS: Higher LE8 score and improvement in LE8 over time was associated with greater CRF, highlighting the importance of the LE8 factors in maintaining CRF.


Assuntos
Aptidão Cardiorrespiratória , Consumo de Oxigênio , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Consumo de Oxigênio/fisiologia , Idoso , Teste de Esforço , Exercício Físico/fisiologia , Pressão Sanguínea/fisiologia , Doenças Cardiovasculares/fisiopatologia , Doenças Cardiovasculares/epidemiologia , Adulto , Sono/fisiologia , Índice de Massa Corporal , Nível de Saúde , Vida Independente , Lipídeos/sangue , Fatores de Tempo , Glicemia/metabolismo , Estilo de Vida Saudável , Frequência Cardíaca/fisiologia , Comportamento de Redução do Risco
6.
Life (Basel) ; 14(5)2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38792571

RESUMO

BACKGROUND: The prevalence of obesity has increased in patients with type 1 diabetes (T1D) and latent autoimmune diabetes of the adult (LADA), limiting the use of clinical features such as the body mass index for its differentiation with type 2 diabetes (T2D). Additionally, some patients with maturity-onset diabetes of the young (MODY) or LADA are misdiagnosed as having T2D. The evaluation of autoantibodies and genetic testing are not fully available. We aimed to evaluate the utility of a widely available and less expensive diagnostic tool such as C-peptide to differentiate between T1D, T2D, MODY, and LADA. METHODS: Our study included 38 patients with T1D, 49 with T2D, 13 with MODY, and 61 with LADA. We recorded anthropometric measurements, biochemical profiles, and antidiabetic treatment and determined C-peptide, anti-GAD65, and anti-IA2 antibodies. RESULTS: C-peptide concentration differed significantly among populations (T1D: 0.2 ng/mL; T2D: 2.4 ng/mL; MODY: 1.14 ng/mL; LADA: 1.87 ng/mL). Through a ROC curve, we observed that the C-peptide cut-off point of 0.95 ng/mL allows differentiation between T1D and T2D (sensitivity 82%, specificity 77%); 0.82 ng/mL between T1D and LADA (sensitivity 82%, specificity 77%); and 1.65 ng/mL between T2D and MODY (sensitivity 72%, specificity 72%). CONCLUSIONS: C-peptide is useful for the diagnostic differentiation of patients with type 1, type 2 diabetes, MODY, and LADA.

7.
Cereb Cortex ; 34(4)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38610087

RESUMO

Hearing is critical to spoken language, cognitive, and social development. Little is known about how early auditory experiences impact the brain structure of children with bilateral sensorineural hearing loss. This study examined the influence of hearing aid use and residual hearing on the auditory cortex of children with severe to profound congenital sensorineural hearing loss. We evaluated cortical preservation in 103 young pediatric cochlear implant candidates (55 females and 48 males) by comparing their multivoxel pattern similarity of auditory cortical structure with that of 78 age-matched children with typical hearing. The results demonstrated that early-stage hearing aid use preserved the auditory cortex of children with bilateral congenital sensorineural hearing loss. Children with less residual hearing experienced a more pronounced advantage from hearing aid use. However, this beneficial effect gradually diminished after 17 months of hearing aid use. These findings support timely fitting of hearing aids in conjunction with early implantation to take advantage of neural preservation to maximize auditory and spoken language development.


Assuntos
Córtex Auditivo , Auxiliares de Audição , Perda Auditiva Neurossensorial , Feminino , Masculino , Humanos , Criança , Perda Auditiva Neurossensorial/terapia , Audição , Encéfalo
9.
J Manag Care Spec Pharm ; 29(10): 1151-1157, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37776117

RESUMO

BACKGROUND: It is not well understood in literature what the time spent between health care professionals, including pharmacists and pharmacy technicians, and pharmaceutical field specialists equates to in terms of changes in productivity or lost time, the educational value provided, or the nature of the resources provided in terms of improving patient care. OBJECTIVE: To evaluate the volume of, and time spent in, pharmaceutical field representative (PFR) meetings by members of an integrated specialty pharmacy team at a large academic medical center. METHODS: A 16-item survey tool used skip and branching logic comprising binary, multiple-choice, multiple-select, and open-ended items was distributed to pharmacists and pharmacy technicians at a health-system specialty pharmacy on the south side of Chicago, Illinois. The survey assessed locations of interactions with PFR, who initiated the request, reason for interaction, time spent, whether the participant felt the interaction provided value, and whether it contributed to them working a longer shift or compromising time spent on patient care that day. RESULTS: There were a total of 108 responses. Of those, 44 responses documented having an interaction with a PFR, and the remaining responses indicated no interaction that week. Only 5 (11.4%) of the interactions were pharmacy team member initiated. Among the pharmacy team member-initiated meetings, all respondents stated that the interaction had provided value, and none reported that it led to a longer workday. Conversely, of the 36 pharmaceutical representative-initiated interactions, 15 (41.6%) found value and 5 (13.8%) said that their workday was elongated because of these interactions. CONCLUSIONS: Our findings demonstrate that the majority of encounters taking place between our specialty pharmacy team members and PFRs did not result in knowledge gained or provision of tools and resources to support our patients. The next steps include 3 specific proposed changes to how our team responds to meeting requests from PFRs, specifically aimed at reducing pipeline presentations, reducing meetings pertaining to limited distribution drugs not accessible to the specialty pharmacy, and reducing meetings with the intent of introduction or pass off of contacts between PFRs.


Assuntos
Assistência Farmacêutica , Farmácia , Humanos , Farmacêuticos , Inquéritos e Questionários , Preparações Farmacêuticas
10.
Pediatr Radiol ; 53(12): 2490-2491, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37735207
12.
Childs Nerv Syst ; 39(10): 2583-2592, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37380927

RESUMO

PURPOSE: To review the evolution of cross-sectional imaging in pediatric neuroradiology from early developments to current advancements and future directions. METHODS: Information was obtained through a PubMed literature search as well as referenced online resources and personal experience from radiologists currently practicing pediatric neuroimaging and those who experienced the era of nascent cross-sectional imaging. RESULTS: The advent of computed tomography (CT) and magnetic resonance imaging (MRI) in the 1970s and 1980s brought about a revolutionary shift in the field of medical imaging, neurosurgical and neurological diagnosis. These cross-sectional imaging techniques ushered in a new era by enabling the visualization of soft tissue structures within the brain and spine. Advancements in these imaging modalities have continued at a remarkable pace, now providing not only high high-resolution and 3-dimensional anatomical imaging, but also functional assessment. With each stride forward, CT and MRI have provided clinicians with invaluable insights, improving the accuracy and precision of diagnoses, facilitating the identification of optimal surgical targets, and guiding the selection of appropriate treatment strategies. CONCLUSION: This article traces the origins and early developments of CT and MRI, chronicling their journey from pioneering technologies to their current indispensable status in clinical applications and exciting possibilities that lie ahead in the realm of medical imaging and neurologic diagnosis.


Assuntos
Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Humanos , Criança , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Neuroimagem , Encéfalo/diagnóstico por imagem , Imageamento Tridimensional
13.
Eur J Prev Cardiol ; 30(14): 1450-1461, 2023 10 10.
Artigo em Inglês | MEDLINE | ID: mdl-37164358

RESUMO

AIMS: To evaluate the associations of dietary indices and quantitative cardiorespiratory fitness (CRF) measures in a large, community-based sample harnessing metabolomic profiling to interrogate shared biology. METHODS AND RESULTS: Framingham Heart Study (FHS) participants underwent maximum effort cardiopulmonary exercise tests for CRF quantification (via peak VO2) and completed semi-quantitative food frequency questionnaires. Dietary quality was assessed by the Alternative Healthy Eating Index (AHEI) and Mediterranean-style Diet Score (MDS), and fasting blood concentrations of 201 metabolites were quantified. In 2380 FHS participants (54 ± 9 years, 54% female, body mass index 28 ± 5 kg/m2), 1 SD higher AHEI and MDS were associated with 5.2% (1.2 mL/kg/min, 95% CI 4.3-6.0%, P < 0.0001) and 4.5% (1.0 mL/kg/min, 95% CI 3.6-5.3%, P < 0.0001) greater peak VO2 in linear models adjusted for age, sex, total daily energy intake, cardiovascular risk factors, and physical activity. In participants with metabolite profiling (N = 1154), 24 metabolites were concordantly associated with both dietary indices and peak VO2 in multivariable-adjusted linear models (FDR < 5%). Metabolites that were associated with lower CRF and poorer dietary quality included C6 and C7 carnitines, C16:0 ceramide, and dimethylguanidino valeric acid, and metabolites that were positively associated with higher CRF and favourable dietary quality included C38:7 phosphatidylcholine plasmalogen and C38:7 and C40:7 phosphatidylethanolamine plasmalogens. CONCLUSION: Higher diet quality is associated with greater CRF cross-sectionally in a middle-aged community-dwelling sample, and metabolites highlight potential shared favourable effects on cardiometabolic health.


This study seeks to address whether healthy dietary patterns relate to gold-standard measures of physical fitness in community-dwelling adults and how circulating metabolites can demonstrate biological relationships between diet and fitness. Healthy diet is associated with greater physical fitness in middle-aged adults. The beneficial relationship between diet and fitness may be partly explained by favourable metabolic health.


Assuntos
Aptidão Cardiorrespiratória , Dieta Mediterrânea , Pessoa de Meia-Idade , Humanos , Feminino , Masculino , Nível de Saúde , Exercício Físico , Dieta Saudável
14.
J Surg Res ; 289: 152-157, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37119616

RESUMO

INTRODUCTION: The incorporation of a 1-y- or 2-y research period during general surgery residency is increasingly common in many academic programs, yet often, it is heterogeneously structured and ill-defined. This survey-based observational study aimed to characterize the perceptions of general surgery program directors (PDs) and residents regarding an in-training, dedicated research sabbatical. METHODS: Two surveys were conducted using Qualtrics software. One survey was sent to general surgery residency PDs, and the other was sent to general surgery residents currently on a research sabbatical. The primary aim of the survey was to assess the PDs' and research residents' perceptions of the research sabbatical. RESULTS: Seven hundred and fifty-two surveys were analyzed, of which 120 were from PDs and 632 from research residents. Among the residents, 44.1% felt that the research time delayed their surgical training. Regarding research funding, 46.7% of the responding residents said that their residency program funded their research, 30.9% said they acquired funding independently, and 19.1% said that it came from a combination of residency program and independent funding. Finally, regarding how residents found their research opportunity, 42.7% said they found it independently and 53.3% said their program provided it. CONCLUSIONS: Research sabbaticals during residency may be considered essential to academic development. However, in this survey-based study, perceptions of research time and its structure varied greatly between PDs and residents. An intentional push toward developing guidelines for research sabbaticals may benefit residency program leadership and residents.


Assuntos
Internato e Residência , Liderança , Humanos , Emoções , Pesquisadores , Software , Inquéritos e Questionários
15.
J Nutr ; 153(1): 34-46, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36913470

RESUMO

BACKGROUND: Molecular mechanisms underlying the benefits of healthy dietary patterns are poorly understood. Identifying protein biomarkers of dietary patterns can contribute to characterizing biological pathways influenced by food intake. OBJECTIVES: This study aimed to identify protein biomarkers associated with four indexes of healthy dietary patterns: Healthy Eating Index-2015 (HEI-2015); Alternative Healthy Eating Index-2010 (AHEI-2010); DASH diet; and alternate Mediterranean Diet (aMED). METHODS: Analyses were conducted on 10,490 Black and White men and women aged 49-73 y from the ARIC study at visit 3 (1993-1995). Dietary intake data were collected using a food frequency questionnaire, and plasma proteins were quantified using an aptamer-based proteomics assay. Multivariable linear regression models were used to examine the association between 4955 proteins and dietary patterns. We performed pathway overrepresentation analysis for diet-related proteins. An independent study population from the Framingham Heart Study was used for replication analyses. RESULTS: In the multivariable-adjusted models, 282 out of 4955 proteins (5.7%) were significantly associated with at least one dietary pattern (HEI-2015: 137; AHEI-2010: 72; DASH: 254; aMED: 35; P value < 0.05/4955 = 1.01 × 10-5). There were 148 proteins that were associated with only one dietary pattern (HEI-2015: 22; AHEI-2010: 5; DASH: 121; aMED: 0), and 20 proteins were associated with all four dietary patterns. Five unique biological pathways were significantly enriched by diet-related proteins. Seven out of 20 proteins associated with all dietary patterns in the ARIC study were available for replication analyses, and 6 out of these 7 proteins were consistent in direction and significantly associated with at least 1 dietary pattern in the Framingham Heart Study (HEI-2015: 2; AHEI-2010: 4; DASH: 6; aMED: 4; P value < 0.05/7 = 7.14 × 10-3). CONCLUSIONS: A large-scale proteomic analysis identified plasma protein biomarkers that are representative of healthy dietary patterns among middle-aged and older US adult population. These protein biomarkers may be useful objective indicators of healthy dietary patterns.


Assuntos
Aterosclerose , Dieta Mediterrânea , Masculino , Adulto , Pessoa de Meia-Idade , Humanos , Feminino , Idoso , Proteômica , Dieta , Estudos Longitudinais , Biomarcadores , Proteínas Sanguíneas , Aterosclerose/epidemiologia
16.
medRxiv ; 2023 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-36798343

RESUMO

Aims: To evaluate the associations of dietary indices and quantitative CRF measures in a large, community-based sample harnessing metabolomic profiling to interrogate shared biology. Methods: Framingham Heart Study (FHS) participants underwent maximum effort cardiopulmonary exercise tests for CRF quantification (via peak VO 2 ) and completed semi-quantitative FFQs. Dietary quality was assessed by the Alternative Healthy Eating Index (AHEI) and Mediterranean-style Diet Score (MDS), and fasting blood concentrations of 201 metabolites were quantified. Results: In 2380 FHS participants (54±9 years, 54% female, BMI 28±5 kg/m 2 ), 1-SD higher AHEI and MDS were associated with 5.1% (1.2 ml/kg/min, p<0.0001) and 4.4% (1.0 ml/kg/min, p<0.0001) greater peak VO 2 in linear models adjusted for age, sex, total energy intake, cardiovascular risk factors, and physical activity. In participants with metabolite profiling (N=1154), 24 metabolites were concordantly associated with both dietary indices and peak VO 2 in multivariable-adjusted linear models (FDR<5%). These metabolites included C6 and C7 carnitines, C16:0 ceramide, and dimethylguanidino valeric acid, which were higher with lower CRF and poorer dietary quality and are known markers of insulin resistance and cardiovascular risk. Conversely, C38:7 phosphatidylcholine plasmalogen and C38:7 and C40:7 phosphatidylethanolamine plasmalogens were associated with higher CRF and favorable dietary quality and may link to lower cardiometabolic risk. Conclusion: Higher diet quality is associated with greater CRF cross-sectionally in a middle-aged community-dwelling sample, and metabolites highlight potential shared favorable effects on health.

17.
Diabetes ; 72(5): 653-665, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-36791419

RESUMO

Few studies have demonstrated reproducible gene-diet interactions (GDIs) impacting metabolic disease risk factors, likely due in part to measurement error in dietary intake estimation and insufficient capture of rare genetic variation. We aimed to identify GDIs across the genetic frequency spectrum impacting the macronutrient-glycemia relationship in genetically and culturally diverse cohorts. We analyzed 33,187 participants free of diabetes from 10 National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program cohorts with whole-genome sequencing, self-reported diet, and glycemic trait data. We fit cohort-specific, multivariable-adjusted linear mixed models for the effect of diet, modeled as an isocaloric substitution of carbohydrate for fat, and its interactions with common and rare variants genome-wide. In main effect meta-analyses, participants consuming more carbohydrate had modestly lower glycemic trait values (e.g., for glycated hemoglobin [HbA1c], -0.013% HbA1c/250 kcal substitution). In GDI meta-analyses, a common African ancestry-enriched variant (rs79762542) reached study-wide significance and replicated in the UK Biobank cohort, indicating a negative carbohydrate-HbA1c association among major allele homozygotes only. Simulations revealed that >150,000 samples may be necessary to identify similar macronutrient GDIs under realistic assumptions about effect size and measurement error. These results generate hypotheses for further exploration of modifiable metabolic disease risk in additional cohorts with African ancestry. ARTICLE HIGHLIGHTS: We aimed to identify genetic modifiers of the dietary macronutrient-glycemia relationship using whole-genome sequence data from 10 Trans-Omics for Precision Medicine program cohorts. Substitution models indicated a modest reduction in glycemia associated with an increase in dietary carbohydrate at the expense of fat. Genome-wide interaction analysis identified one African ancestry-enriched variant near the FRAS1 gene that may interact with macronutrient intake to influence hemoglobin A1c. Simulation-based power calculations accounting for measurement error suggested that substantially larger sample sizes may be necessary to discover further gene-macronutrient interactions.


Assuntos
Diabetes Mellitus , Dieta , Humanos , Hemoglobinas Glicadas/genética , Diabetes Mellitus/genética , Ingestão de Alimentos , Inibidores de Dissociação do Nucleotídeo Guanina/genética , Estudo de Associação Genômica Ampla
18.
Arch Dis Child Fetal Neonatal Ed ; 108(1): 45-50, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35788031

RESUMO

OBJECTIVE: A portable, low-field MRI system is now Food and Drug Administration cleared and has been shown to be safe and useful in adult intensive care unit settings. No neonatal studies have been performed. The objective is to assess our preliminary experience and assess feasibility of using the portable MRI system at the bedside in a neonatal intensive care unit (NICU) at a quaternary children's hospital. STUDY DESIGN: This was a single-site prospective cohort study in neonates ≥2 kg conducted between October and December 2020. All parents provided informed consent. Neonates underwent portable MRI examination in the NICU with support equipment powered on and attached to the neonate during the examination. A paediatric radiologist interpreted each portable MRI examination. The study outcome variable was percentage of portable MRI examinations completed without artefacts that would hinder diagnosis. Findings were compared between portable MRI examinations and standard of care examinations. RESULTS: Eighteen portable, low-field MRI examinations were performed on 14 neonates with an average age of 29.7 days (range 1-122 days). 94% (17 of 18) of portable MRI examinations were acquired without significant artefact. Significant intracranial pathology was visible on portable MRI, but subtle abnormalities were missed. The examination reads were concordant in 59% (10 of 17) of cases and significant pathology was missed in 12% (2 of 17) of cases. CONCLUSION: This single-centre series demonstrated portable MRI examinations can be performed safely with standard patient support equipment present in the NICU. These findings demonstrate that portable MRI could be used in the future to guide care in the NICU setting. TRIAL REGISTRATION NUMBER: NCT04629469.


Assuntos
Unidades de Terapia Intensiva Neonatal , Imageamento por Ressonância Magnética , Humanos , Recém-Nascido , Competência Clínica , Estudos de Viabilidade , Estudos Prospectivos
19.
J Athl Train ; 58(10): 865-875, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-35724359

RESUMO

CONTEXT: Researchers have demonstrated that job demands impair tactical athletes' mental health. Mental health stigmas in this population and limited resources may prevent individuals from receiving care. Athletic trainers (ATs) are often the first, and sometimes the only, contact for mental health concerns. Previous literature indicated that ATs desired more psychosocial training and experience. OBJECTIVE: To investigate ATs' preparedness and experiences managing patients with mental health conditions in the tactical athlete setting. DESIGN: Consensual qualitative research study. SETTING: One-on-one, semistructured interviews. PATIENTS OR OTHER PARTICIPANTS: Fifteen ATs (men = 7, women = 8; age = 36 ± 10 years; experience in tactical athlete setting = 4 years [range, 6 months-20 years]; military = 12, law enforcement = 2; fire service = 1). MAIN OUTCOME MEASURE(S): Interviews followed a 9-question protocol focused on job setting preparation, mental health training, and perceived role managing patients with mental health concerns. Interviews were audio recorded and transcribed verbatim. A 3-person coding team convened for data analysis following the consensual qualitative research tradition. Credibility and trustworthiness were established using a stability check, member checking, and multianalyst triangulation. RESULTS: Four domains emerged surrounding ATs' mental health management experiences with tactical athletes: (1) population norms, (2) provider preparation, (3) provider context, and (4) structure of job responsibilities. Most ATs felt their educational experiences lacked comprehensive mental health training. Some participants described formal employer resources that were optional or mandatory for their job, whereas others engaged in self-education to feel prepared for this setting. Participants shared that unfamiliar experiences, such as divorce and deployment, influenced their context as providers. Most ATs had no policy related to mental health care and referral, indicating it was outside their responsibilities or they were unsure of role delineation. CONCLUSIONS: For ATs working with tactical athletes, our respondents suggested that additional mental health education and training are necessary. They also indicated that improvement is needed in job structure regarding role delineation and the establishment of policies regarding behavioral health.


Assuntos
Saúde Mental , Esportes , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Inquéritos e Questionários , Esportes/psicologia , Atletas/psicologia , Instituições Acadêmicas , Pesquisa Qualitativa
20.
Wearable Technol ; 4: e22, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38510587

RESUMO

Falls due to stumbles are a major cause of injury for many populations, and as such interventions to reduce fall risk have been a key focus of rehabilitation research. However, dedicated stumble recovery assistance in a powered lower-limb exoskeleton has yet to be explored as a fall mitigation intervention. Thus young, healthy adults () were recruited for a stumble recovery experiment to test the efficacy of knee exoskeleton stumble recovery assistance in improving an impaired stumble recovery response (i.e., the elevating strategy response). Leg weights were attached unilaterally to each participant's shank to simulate walking and stumble recovery impairment, and a unilateral powered knee exoskeleton was worn on the same leg for walking and stumble recovery assistance. Ultimately, knee exoskeleton stumble recovery assistance served to improve participants' elevating limb kinematics (i.e., increase thigh and knee motion) and reduce overall fall risk (i.e., reduce trunk motion and improve foot placement) during responses relative to their impaired response (i.e., with the leg weights and no assistance), and relative to their response while receiving only walking assistance. This initial exploration provides a first indication that knee exoskeleton stumble recovery assistance is a viable approach to improving an impaired stumble recovery response, which could serve two important use cases: (1) a safety mechanism for existing exoskeleton wearers, who may be less capable of recovering from stumbles due to the added weight or joint impedance of the device; (2) an external stumble recovery aid for fall-prone populations, such as the elderly or stroke survivors.

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