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1.
Am J Hum Genet ; 108(6): 1053-1068, 2021 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-33909990

RESUMO

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia. Because FLHS is known to be associated with a unique set of DNA methylation (DNAm) changes in blood, a DNAm signature, we investigated whether there was a distinct signature associated with our affected individuals. A machine-learning model, based on the FLHS DNAm signature, negatively classified all our tested subjects. Comparing proximal variants with typically developing controls, we identified a DNAm signature distinct from the FLHS signature. Based on the DNAm and clinical data, we refer to the condition as "non-FLHS SRCAP-related NDD." All five distal variants classified negatively using the FLHS DNAm model while two classified positively using the proximal model. This suggests divergent pathogenicity of these variants, though clinically the distal group presented with NDD, similar to the proximal SRCAP group. In summary, for SRCAP, there is a clear relationship between variant location, DNAm profile, and clinical phenotype. These results highlight the power of combined epigenetic, molecular, and clinical studies to identify and characterize genotype-epigenotype-phenotype correlations.


Assuntos
Anormalidades Múltiplas/patologia , Adenosina Trifosfatases/genética , Anormalidades Craniofaciais/patologia , Metilação de DNA , Epigênese Genética , Transtornos do Crescimento/patologia , Comunicação Interventricular/patologia , Mutação , Transtornos do Neurodesenvolvimento/patologia , Fenótipo , Anormalidades Múltiplas/genética , Estudos de Casos e Controles , Estudos de Coortes , Anormalidades Craniofaciais/genética , Feminino , Predisposição Genética para Doença , Transtornos do Crescimento/genética , Comunicação Interventricular/genética , Humanos , Recém-Nascido , Masculino , Transtornos do Neurodesenvolvimento/genética
2.
Lancet ; 402(10397): 235-249, 2023 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-37356447

RESUMO

Diabetes is pervasive, exponentially growing in prevalence, and outpacing most diseases globally. In this Series paper, we use new theoretical frameworks and a narrative review of existing literature to show how structural inequity (structural racism and geographical inequity) has accelerated rates of diabetes disease, morbidity, and mortality globally. We discuss how structural inequity leads to large, fixed differences in key, upstream social determinants of health, which influence downstream social determinants of health and resultant diabetes outcomes in a cascade of widening inequity. We review categories of social determinants of health with known effects on diabetes outcomes, including public awareness and policy, economic development, access to high-quality care, innovations in diabetes management, and sociocultural norms. We also provide regional perspectives, grounded in our theoretical framework, to highlight prominent, real-world challenges.


Assuntos
Diabetes Mellitus , Racismo , Humanos , Racismo Sistêmico , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/terapia , Prevalência , Fatores Sociais
3.
Lancet ; 402(10397): 250-264, 2023 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-37356448

RESUMO

Diabetes is a serious chronic disease with high associated burden and disproportionate costs to communities based on socioeconomic, gender, racial, and ethnic status. Addressing the complex challenges of global inequity in diabetes will require intentional efforts to focus on broader social contexts and systems that supersede individual-level interventions. We codify and highlight best practice approaches to achieve equity in diabetes care and outcomes on a global scale. We outline action plans to target diabetes equity on the basis of the recommendations established by The Lancet Commission on Diabetes, organising interventions by their effect on changing the ecosystem, building capacity, or improving the clinical practice environment. We present international examples of how to address diabetes inequity in the real world to show that approaches addressing the individual within a larger social context, in addition to addressing structural inequity, hold the greatest promise for creating sustainable and equitable change that curbs the global diabetes crisis.


Assuntos
Diabetes Mellitus , Ecossistema , Humanos , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/terapia , Meio Social
4.
Magn Reson Med ; 2024 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-38703017

RESUMO

PURPOSE: Magnetization transfer saturation (MTsat) mapping is commonly used to examine the macromolecular content of brain tissue. This study compared variable flip angle (VFA) T1 mapping against compressed-sensing MP2RAGE (csMP2RAGE) T1 mapping for accelerating MTsat imaging. METHODS: VFA, MP2RAGE, and csMP2RAGE were compared against inversion-recovery T1 in an aqueous phantom at 3 T. The same 1-mm VFA, MP2RAGE, and csMP2RAGE protocols were acquired in 4 healthy subjects to compare T1 and MTsat. Bloch-McConnell simulations were used to investigate differences between the phantom and in vivo T1 results. Ten healthy controls were imaged twice with the csMP2RAGE MTsat protocol to quantify repeatability. RESULTS: The MP2RAGE and csMP2RAGE protocols were 13.7% and 32.4% faster than the VFA protocol, respectively. At these scan times, all approaches provided strong repeatability and accurate T1 times (< 5% difference) in the phantom, but T1 accuracy was more impacted by T2 for VFA than for MP2RAGE. In vivo, VFA estimated longer T1 times than MP2RAGE and csMP2RAGE. Simulations suggest that the differences in the T1 measured using VFA, MP2RAGE, and inversion recovery could be explained by the magnetization-transfer effects. In the test-retest experiment, we found that the csMP2RAGE has a minimum detectable change of 2.3% for T1 mapping and 7.8% for MTsat imaging. CONCLUSIONS: We demonstrated that MP2RAGE can be used in place of VFA T1 mapping in an MTsat protocol. Furthermore, a shorter scan time and high repeatability can be achieved using the csMP2RAGE sequence.

5.
J Neurol Neurosurg Psychiatry ; 95(8): 693-703, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-38777577

RESUMO

BACKGROUND: Antiseizure medications (ASMs) during the first trimester of pregnancy have been associated with an increased risk of miscarriage. METHODS: We carried out a population-based cohort study using routinely collected healthcare data from the UK, 1995-2018. Pregnancies were identified in the Clinical Practice Research Datalink and we estimated the HR of miscarriage associated with prescriptions of ASMs during the first trimester of pregnancy, using Cox regression, adjusting for potential confounders, including ASM indications. RESULTS: ASMs were prescribed during the first trimester in 7832 (0.8%) of 1 023 787 included pregnancies. 14.5% of pregnancies with first-trimester exposure to ASMs ended in miscarriage, while 12.2% without ASM exposure in the first trimester ended in miscarriage; after adjustment, there was a 1.06-fold relative hazard of miscarriage (95% CI 1.00 to 1.13) in women with first-trimester ASM use. After restricting to women with specific ASM indications, this association was not evident in women with epilepsy (adjusted HR 0.98, 95% CI 0.89 to 1.08), but was observed in women with bipolar or other psychiatric conditions (1.08, 95% CI 1.00 to 1.16) although CIs overlapped. Compared with discontinuation of ASMs prior to pregnancy, there was no evidence of increased risk of miscarriage for first-trimester ASM use in women with bipolar or other psychiatric conditions (1.02, 95% CI 0.87 to 1.20). CONCLUSION: We found no clear evidence to suggest that first-trimester ASM use increased the risk of miscarriage. Taken together, our analyses suggest that apparent associations between first-trimester ASM use and miscarriage may be the result of confounding by the presence of a bipolar disorder or associated unmeasured variables.


Assuntos
Aborto Espontâneo , Anticonvulsivantes , Epilepsia , Complicações na Gravidez , Primeiro Trimestre da Gravidez , Humanos , Feminino , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/induzido quimicamente , Gravidez , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Adulto , Estudos de Coortes , Epilepsia/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Reino Unido/epidemiologia , Fatores de Risco , Adulto Jovem
6.
J Stroke Cerebrovasc Dis ; 33(4): 107583, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38242184

RESUMO

BACKGROUND: Stroke is the fifth leading cause of death and disability in the United States. Social risk factors contribute to recovery from stroke, however the relationship between social risk factors and functional limitation among stroke survivors remains unknown. METHODS: Data on 2,888 adults with stroke from the National Health Interview Survey from 2016-2018 was analyzed. The primary independent variables included six social risk factors: economic instability, lack of community, educational deficit, food insecurity, social isolation, and inadequate access to care. The outcome measure was functional limitation count. Negative binomial regression models were run to test the relationship between the independent and dependent variables adjusting for covariates. RESULTS: Overall, 56% of the study participants were aged 65+, 70% were Non-Hispanic White, and 95% had at least one comorbidity. The mean functional limitation count was 1.8. In the unadjusted model, each social risk factor was significantly associated with functional limitation. In the fully adjusted model, significant association with functional limitation was found in individuals reporting economic instability (Incidence rate ratio [IRR] 1.65, 95% CI 1.33, 2.06), food insecurity (IRR 1.28, 95% CI 1.15, 1.42), and social isolation (IRR 1.64, 95% CI 1.48, 1.82). CONCLUSIONS: Social risk factors such as economic instability, food insecurity and social isolation are significantly associated with functional limitation in adults with stroke. Interventions designed to address both social and medical needs have the potential to improve physical functioning and other clinical outcomes in stroke survivors.


Assuntos
Acidente Vascular Cerebral , Adulto , Humanos , Estados Unidos/epidemiologia , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/terapia , Comorbidade , Fatores de Risco , Inquéritos e Questionários , Sobreviventes
7.
Magn Reson Med ; 90(5): 1762-1775, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37332194

RESUMO

PURPOSE: Imaging biomarkers with increased myelin specificity are needed to better understand the complex progression of neurological disorders. Inhomogeneous magnetization transfer (ihMT) imaging is an emergent technique that has a high degree of specificity for myelin content but suffers from low signal to-noise ratio (SNR). This study used simulations to determine optimal sequence parameters for ihMT imaging for use in high-resolution cortical mapping. METHODS: MT-weighted cortical image intensity and ihMT SNR were simulated using modified Bloch equations for a range of sequence parameters. The acquisition time was limited to 4.5 min/volume. A custom MT-weighted RAGE sequence with center-out k-space encoding was used to enhance SNR at 3 T. Pulsed MT imaging was studied over a range of saturation parameters, and the impact of the turbo factor on the effective ihMT resolution was investigated. 1 mm isotropic ihMTsat maps were generated in 25 healthy adults. RESULTS: Greater SNR was observed for larger number of bursts consisting of 6-8 saturation pulses each, combined with a high readout turbo factor. However, that protocol suffered from a point spread function that was more than twice the nominal resolution. For high-resolution cortical imaging, we selected a protocol with a higher effective resolution at the cost of a lower SNR. We present the first group-average ihMTsat whole-brain map at 1 mm isotropic resolution. CONCLUSION: This study presents the impact of saturation and excitation parameters on ihMTsat SNR and resolution. We demonstrate the feasibility of high-resolution cortical myelin imaging using ihMTsat in less than 20 min.


Assuntos
Encéfalo , Imageamento por Ressonância Magnética , Adulto , Humanos , Imageamento por Ressonância Magnética/métodos , Encéfalo/diagnóstico por imagem , Bainha de Mielina , Razão Sinal-Ruído , Biomarcadores
8.
J Gen Intern Med ; 38(15): 3321-3328, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37296361

RESUMO

OBJECTIVE: Examine the association between historic residential redlining and present-day racial/ethnic composition of neighborhoods, racial/ethnic differences in social determinant of health domains, and risk of home evictions and food insecurity. RESEARCH DESIGN AND METHODS: We examined data on 12,334 (for eviction sample), and 8996 (for food insecurity sample), census tracts in 213 counties across 37 states in the USA with data on exposure to historic redlining. First, we examined relationships between Home Owners' Loan Corporation (HOLC) redlining grades (A="Best", B="Still Desirable", C="Definitely Declining", D="Hazardous") and present-day racial/ethnic composition and racial/ethnic differences in social determinant of health domains of neighborhoods. Second, we examined whether historic redlining is associated with present-day home eviction rates (measured across eviction filings rates, and eviction judgment rates for 12,334 census tracts in 2018) and food insecurity (measured across low supermarket access, low supermarket access and income, low supermarket access and low car ownership for 8996 census tracts in 2019). Multivariable regression models were adjusted for census tract population, urban/rural designation, and county level fixed effects. RESULTS: Relative to areas with a historic HOLC grading of "A (Best)", areas with a "D (Hazardous)" grading had a 2.59 (95%CI=1.99-3.19; p-value<0.01) higher rate of eviction filings, and a 1.03 (95%CI=0.80-1.27; p-value<0.01) higher rate of eviction judgments. Compared to areas with a historic HOLC grading of "A (Best)", areas rated with a "D (Hazardous)" had a 16.20 (95%CI=15.02-17.79; p-value<0.01) higher rate of food insecurity based on supermarket access and income, and a 6.15 (95%CI =5.53-6.76; p-value<0.01) higher rate of food insecurity based on supermarket access and car ownership. CONCLUSIONS: Historic residential redlining is significantly associated with present-day home evictions and food insecurity, highlighting persistent associations between structural racism and present-day social determinants of health.


Assuntos
Características de Residência , Determinantes Sociais da Saúde , Humanos , Renda
9.
J Gen Intern Med ; 38(6): 1534-1537, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36746831

RESUMO

There is emerging evidence that structural racism is a major contributor to poor health outcomes for ethnic minorities. Structural racism captures upstream historic racist events (such as slavery, black code, and Jim Crow laws) and more recent state-sanctioned racist laws in the form of redlining. Redlining refers to the practice of systematically denying various services (e.g., credit access) to residents of specific neighborhoods, often based on race/ethnicity and primarily within urban communities. Historical redlining is linked to increased risk of diabetes, hypertension, and early mortality due to heart disease with evidence suggesting it impacts health through suppressing economic opportunity and human capital, or the knowledge, skills, and value one contributes to society. Addressing structural racism has been a rallying call for change in recent years-drawing attention to the racialized impact of historical policies in the USA. Unfortunately, the enormous scope of work has also left people feeling incapable of effecting the very change they seek. This paper highlights a path forward by briefly discussing the origins of historical redlining, highlighting the modern-day consequences both on health and at the societal level, and suggest promising initiatives to address the impact.


Assuntos
Racismo , Humanos , Características de Residência , Etnicidade
10.
Psychol Med ; 53(3): 927-935, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-34034845

RESUMO

BACKGROUND: There is a paucity of literature on the relationship between pre-existing mental health conditions and coronavirus disease-2019 (COVID-19) outcomes. The aim was to examine the association between pre-existing mental health diagnosis and COVID-19 outcomes (positive screen, hospitalization, mortality). METHODS: Electronic medical record data for 30 976 adults tested for COVID-19 between March 2020 and 10th July 2020 was analyzed. COVID-19 outcomes included positive screen, hospitalization among screened positive, and mortality among screened positive and hospitalized. Primary independent variable, mental health disorders, was based on ICD-10 codes categorized as bipolar, internalizing, externalizing, and psychoses. Descriptive statistics were calculated, unadjusted and adjusted logistic regression and Cox proportional hazard models were used to investigate the relationship between each mental health disorder and COVID-19 outcomes. RESULTS: Adults with externalizing (odds ratio (OR) 0.67, 95%CI 0.57-0.79) and internalizing disorders (OR 0.78, 95% CI 0.70-0.88) had lower odds of having a positive COVID-19 test in fully adjusted models. Adults with bipolar disorder had significantly higher odds of hospitalization in fully adjusted models (OR 4.27, 95% CI 2.06-8.86), and odds of hospitalization were significantly higher among those with externalizing disorders after adjusting for demographics (OR 1.71, 95% CI 1.23-2.38). Mortality was significantly higher in the fully adjusted model for patients with bipolar disorder (hazard ratio 2.67, 95% CI 1.07-6.67). CONCLUSIONS: Adults with mental health disorders, while less likely to test positive for COVID-19, were more likely to be hospitalized and to die in the hospital. Study results suggest the importance of developing interventions that incorporate elements designed to address smoking cessation, nutrition and physical activity counseling and other needs specific to this population to improve COVID-19 outcomes.


Assuntos
COVID-19 , Adulto , Humanos , COVID-19/epidemiologia , Wisconsin , SARS-CoV-2 , Saúde Mental , Hospitalização
11.
Health Qual Life Outcomes ; 21(1): 21, 2023 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-36890499

RESUMO

BACKGROUND: Food insecurity is associated with worse general health rating, but little research exists investigating whether there is a dose response relationship across levels of food security and mental and physical health domains at the population level. METHODS: Data from the Medical Expenditure Panel Survey (2016-2017) with US adults aged 18 years and older was used. The physical component score (PCS) and mental component score (MCS) of Quality of Life, served as the outcome measures. Four categories of food insecurity (high, marginal, low, very low food security) served as the primary independent variable. Linear regression was used to run unadjusted followed by adjusted models. Separate models were run for PCS and MCS. RESULTS: In a sample of US adults, 16.1% reported some degree of food insecurity. For PCS, marginal (ß = - 2.54 (p < 0.001), low (ß = - 3.41, (p < 0.001), and very low (ß = - 5.62, (p < 0.001) food security was associated with worse PCS scores, compared to adults with high food security. For MCS, marginal (ß = - 3.90 (p < 0.001), low (ß = - 4.79, (p < 0.001), and very low (ß = - 9.72, (p < 0.001) food security was associated with worse MCS scores, compared to adults with high food security. CONCLUSION: Increasing levels of food insecurity were associated with decreased physical and mental health quality of life scores. This relationship was not explained by demographic factors, socioeconomic factors, insurance, or comorbidity burden. This study suggests work is needed to mitigate the impact of social risk, such as food insecurity, on quality of life in adults, and understand pathways and mechanisms for this relationship.


Assuntos
Abastecimento de Alimentos , Qualidade de Vida , Adulto , Humanos , Estados Unidos/epidemiologia , Saúde Mental , Fatores Socioeconômicos , Insegurança Alimentar
12.
Pharmacoepidemiol Drug Saf ; 32(6): 617-624, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36522838

RESUMO

PURPOSE: Real-world data represents a valuable tool for pregnancy research. However, an algorithmic approach is needed to ascertain pregnancy timings from this complex data. The Clinical Practice Research Datalink (CPRD) GOLD Pregnancy Register, based on UK Primary care data, has therefore proven to be a valuable research tool. The same algorithmic approach was applied to the CPRD Aurum data to generate an equivalent register in the larger database. METHODS: Records of female patients registered with a CPRD Aurum contributing practice between the 1st of January 1987 and the 30th of April 2021 were searched for evidence of pregnancy. The algorithm used to generate the CPRD GOLD Pregnancy Register was redeveloped and applied first to CPRD GOLD and then to CPRD Aurum. The resulting CPRD Aurum Pregnancy Register was validated against the CPRD GOLD register, linked Hospital Episode Statistics (HES) and the Office of National Statistics (ONS) live birth data. RESULTS: There are 16 833 427 pregnancy episodes in the CPRD Aurum Pregnancy Register from 6 724 615 women, more than double the number in CPRD GOLD. The distribution of pregnancy outcome types was comparable between the registers. Across the whole register, there was good concordance between pregnancy episodes found in CPRD Aurum and linked HES. However, both CPRD registers saw a declining number of pregnancy episodes from 2007 onwards, steeper than in HES or the ONS birth data. CONCLUSIONS: A pregnancy register has been created in CPRD Aurum. Changes in antenatal care policies in the UK have led to declining numbers of pregnancies in EHR primary care data. However, the creation of this pregnancy register has tripled the number of patients in the CPRD Pregnancy Registers and will increase the capacity to study pregnancy in CPRD data, particularly rare or emerging exposures, and outcomes.


Assuntos
Gerenciamento de Dados , Resultado da Gravidez , Humanos , Feminino , Gravidez , Cuidado Pré-Natal , Bases de Dados Factuais , Atenção Primária à Saúde , Reino Unido
13.
BMC Public Health ; 23(1): 410, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36855084

RESUMO

INTRODUCTION: With the recent emergence of the Healthy People 2030 goals there is a need to understand the role of SDOH on health inequalities from an upstream perspective. This review summarizes the recent body of evidence on the impact of SDOH across adolescence and youth health outcomes by race/ethnicity using the Health People 2030 Framework. METHODS: A systematic, reproducible search was performed using PubMed, Academic Search Premier, PsychInfo, and ERIC. A total of 2078 articles were screened for inclusion. A total of 263 articles met inclusion criteria, resulting in 29 articles included for final synthesis. RESULTS: Across the 29 articles, 11 were cross-sectional, 16 were cohort, and 2 were experimental. Across SDOH categories (economic stability, education access and quality, health care access and quality, neighborhood and built environment, and social and community context), 1 study examined self-efficacy, 6 educational attainment, 10 behavior, 5 smoking, 11 alcohol use, 10 substance use, and 1 quality of life. The majority of outcomes represented in this search included health behaviors such as health risk behavior, smoking, alcohol use, and substance use. Across the 29 articles identified, significant differences existed across outcomes by race/ethnicity across SDOH factors, however magnitude of differences varied by SDOH category. DISCUSSION: SDOH differentially affect adolescents and youth across race/ethnicity. The lived adverse experiences, along with structural racism, increase the likelihood of adolescents and youth engaging in risky health behaviors and negatively influencing health outcomes during adolescence and youth. Research, public health initiatives, and policies integrating SDOH into interventions at early stage of life are needed to effectively reduce social and health inequalities at a population level.


Assuntos
Sucesso Acadêmico , Qualidade de Vida , Humanos , Adolescente , Criança , Adulto Jovem , Adulto , Determinantes Sociais da Saúde , Consumo de Bebidas Alcoólicas , Avaliação de Resultados em Cuidados de Saúde
14.
Artigo em Inglês | MEDLINE | ID: mdl-37474279

RESUMO

Approaching discussions and introducing the idea of dysmorphology to parents and families can be perceived as difficult and even daunting by health professionals resulting in uneasiness in how best to initiate important dialogues sensitively and accessibly.Here, we offer a structured approach to the assessment of, and subsequent initial discussion around, dysmorphism and potential syndromic features in babies and children.

15.
Zoo Biol ; 42(4): 476-489, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36807929

RESUMO

The zoo-housed southern white rhinoceros (SWR) population is of special concern due to their lack of consistent breeding success. An enhanced understanding of SWR social preferences could better inform management planning by promoting natural social relationships, which can positively affect their well-being. The large, multigeneration herd housed at the North Carolina Zoo provides an ideal opportunity to examine rhino sociality across different ages, kin types, and social groupings. Eight female rhinos' social and nonsocial behaviors were recorded from November 2020 through June 2021 across 242 h. Activity budget analyses revealed strong seasonal and temporal variations in grazing and resting behaviors, with no stereotypic behaviors recorded. Bond strength calculations suggested that each female maintained strong social bonds with one to two partners. Beyond mother-nursing calf bonds, we found that the strongest social ties were maintained between calf-less adults and subadults in these dyads. Considering these findings, we recommend that management plans attempt to house immature females with calf-less adult females, as they may be necessary to the social landscape of immature females and, ultimately, improve their welfare.


Assuntos
Animais de Zoológico , Comportamento Social , Animais , Feminino , Perissodáctilos , Comportamento Estereotipado
16.
J Intellect Disabil ; : 17446295231213436, 2023 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-37922940

RESUMO

Frailty is a health concern for many adults with intellectual disability and should be measured to detect at-risk conditions, monitor disease, plan treatment, and gauge mortality. This descriptive pilot study evaluated measurement consistency (inter-rater agreement) of the Intellectual Disability-Frailty Index Short Form among multiple assessors with 20 adults (M age = 48.3 years) who had intellectual and multiple disabilities. Agreement percentages were computed for (a) non-frail, pre-frail, and frail categories derived from total index scores, and (b) each of 17 deficits listed on the form. Low average inter-rater agreement (<85%) was obtained on the index frail categories, several of the assessed deficits had acceptable inter-rater agreement (84.2-100%), while the majority of deficits were associated with moderate-to-low agreement percentages. Though research supports the Intellectual Disability-Frailty Index Short Form as a valid and practical frailty assessment instrument, our findings suggest that full-scale inter-rater agreement must be improved by adding more specificity to the form, clarifying instructions for assessors, and providing competency-based training in assessment implementation.

17.
Mult Scler ; 28(13): 2027-2037, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35903888

RESUMO

BACKGROUND: The use of advanced magnetic resonance imaging (MRI) techniques in MS research has led to new insights in lesion evolution and disease outcomes. It has not yet been determined if, or how, pre-lesional abnormalities in normal-appearing white matter (NAWM) relate to the long-term evolution of new lesions. OBJECTIVE: To investigate the relationship between abnormalities in MRI measures of axonal and myelin volume fractions (AVF and MVF) in NAWM preceding development of black-hole (BH) and non-BH lesions in people with MS. METHODS: We obtained magnetization transfer and diffusion MRI at 6-month intervals in patients with MS to estimate MVF and AVF during lesion evolution. Lesions were classified as either BH or non-BH on the final imaging visit using T1 maps. RESULTS: Longitudinal data from 97 new T2 lesions from 9 participants were analyzed; 25 lesions in 8 participants were classified as BH 6-12 months after initial appearance. Pre-lesion MVF, AVF, and MVF/AVF were significantly lower, and T1 was significantly higher, in the lesions that later became BHs (p < 0.001) compared to those that did not. No significant pre-lesion abnormalities were found in non-BH lesions (p > 0.05). CONCLUSION: The present work demonstrated that pre-lesion abnormalities are associated with worse long-term lesion-level outcome.


Assuntos
Esclerose Múltipla , Substância Branca , Axônios/patologia , Encéfalo/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/patologia , Bainha de Mielina/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologia
18.
Dig Dis ; 40(3): 335-344, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34102640

RESUMO

BACKGROUND: Pancreatic exocrine insufficiency (PEI) and subsequent malnutrition can be difficult to diagnose but lead to sarcopenia and increased mortality and morbidity even in benign disease. Digital skeletal muscle analysis has been increasingly recognised as a tool to diagnose sarcopenia. OBJECTIVE: The aim of the study was to assess the prevalence of sarcopenia in patients with PEI secondary to benign disease using novel skeletal muscle recognition software. METHODS: Prospective recruitment of patients referred for endoscopic ultrasound (EUS) with suspected pancreatic pathology. Patients with suspected pancreatic cancer on initial computed tomography (CT) were excluded. The diagnosis of chronic pancreatitis (CP) was based on CT and EUS findings. PEI was assessed with faecal elastase-1. Digital measurement of skeletal muscle mass identified sarcopenia, with demographic and comorbidity data also collected. RESULTS: PEI was identified in 45.1% (46/102) of patients recruited, and 29.4% (30/102) had changes of CP. Sarcopenia was significantly more prevalent in PEI 67.4% (31/46) than no-PEI 37.5% (21/56) (37.5%), regardless of CP changes (p < 0.003). The prevalence of sarcopenia (67% vs. 35%; p = 0.02) and sarcopenic obesity (68.4% vs. 25%; p = 0.003) was significantly higher when PEI was present without a radiological diagnosis of CP. Multivariate analysis identified sarcopenia and diabetes to be independently associated with PEI (odds ratio 4.8 and 13.8, respectively, p < 0.05). CONCLUSION: Sarcopenia was strongly associated with PEI in patients undergoing assessment for suspected benign pancreatic pathology. Digital skeletal muscle assessment can be used as a tool to aid identification of sarcopenia in patients undergoing CT scan for pancreatic symptoms.


Assuntos
Insuficiência Pancreática Exócrina , Desnutrição , Pancreatite Crônica , Sarcopenia , Insuficiência Pancreática Exócrina/diagnóstico por imagem , Insuficiência Pancreática Exócrina/epidemiologia , Humanos , Desnutrição/complicações , Desnutrição/diagnóstico , Desnutrição/epidemiologia , Pâncreas/patologia , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/diagnóstico por imagem , Estudos Prospectivos , Sarcopenia/diagnóstico por imagem , Sarcopenia/epidemiologia
19.
BMC Geriatr ; 22(1): 39, 2022 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-35012474

RESUMO

BACKGROUND: The aim of the study was to examine the explanatory role of sociodemographic, clinical, behavioral, and social factors on racial/ethnic differences in cognitive decline among adults with diabetes. METHODS: Adults aged 50+ years with diabetes from the Health and Retirement Survey were assessed for cognitive function (normal, mild cognitive impairment [MCI], and dementia). Generalized estimating equation (GEE) logistic regression models were used to account for repeating measures over time. Models were adjusted for sociodemographic (gender, age, education, household income and assets), behavioral (smoking), clinical (ie. comorbidities, body mass index), and social (social support, loneliness, social participation, perceived constraints and perceived mastery on personal control) factors. RESULTS: Unadjusted models showed non-Hispanic Blacks (NHB) and Hispanics were significantly more likely to progress from normal cognition to dementia (NHB OR: 2.99, 95%CI 2.35-3.81; Hispanic OR: 3.55, 95%CI 2.77-4.56), and normal cognition to MCI (NHB OR = 2.45, 95%CI 2.14-2.82; Hispanic OR = 2.49, 95%CI 2.13-2.90) compared to non-Hispanic Whites (NHW). Unadjusted models for the transition from mild cognitive decline to dementia showed Hispanics were more likely than NHW to progress (OR = 1.43, 95%CI 1.11-1.84). After adjusting for sociodemographic, clinical/behavioral, and social measures, NHB were 3.75 times more likely (95%CI 2.52-5.56) than NHW to reach dementia from normal cognition. NHB were 2.87 times more likely (95%CI 2.37-3.48) than NHW to reach MCI from normal. Hispanics were 1.72 times more likely (95%CI 1.17-2.52) than NHW to reach dementia from MCI. CONCLUSION: Clinical/behavioral and social factors did not explain racial/ethnic disparities. Racial/ethnic disparities are less evident from MCI to dementia, emphasizing preventative measures/interventions before cognitive impairment onset are important.


Assuntos
Disfunção Cognitiva , Diabetes Mellitus , Negro ou Afro-Americano , Idoso , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/epidemiologia , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiologia , Humanos , Fatores Sociais , População Branca
20.
BMC Public Health ; 22(1): 1038, 2022 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-35610591

RESUMO

BACKGROUND: The global burden of hypertension is growing, particularly in low- and middle-income countries. This study aimed to investigate differences in the relationship between social capital and hypertension between regions in Sub-Saharan Africa (West vs. South Africa) and within regions (rural vs. urban residence within each country). METHODS: Data for 9,800 adults were analyzed from the Study on Global Ageing and Adult Health (SAGE) 2007-2010 for Ghana (West African emerging economy) and South Africa (South African established economy). Outcomes were self-reported and measured hypertension. The primary independent variable was social capital, dichotomized into low vs. medium/high. Interaction terms were tested between social capital and rural/urban residence status for each outcome by country. Linear and logistic regression models were run separately for both countries and each outcome. RESULTS: Those with low social capital in the emerging economy of Ghana were more likely to have hypertension based on measurement (OR=1.35, 95% CI=1.18,1.55), but the relationship with self-reported hypertension lost significance after adjustment. There was no significant relationship in the relationship between social capital and hypertension in the established economy of South Africa after adjustment. No significant interactions existed by rural/urban residence status in either country. CONCLUSION: Low social capital was associated with worse hypertension outcomes, however, the relationship differed between South Africa and Ghana. Further investigation is needed to understand differences between and within countries to guide development of programs targeted at leveraging and promoting social capital as a positive component of overall health.


Assuntos
Hipertensão , Capital Social , Adulto , Humanos , Hipertensão/epidemiologia , Prevalência , População Rural , África do Sul/epidemiologia
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