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1.
Health Promot Pract ; : 15248399231218937, 2024 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-38189324

RESUMO

Trust plays an integral part in the effective functioning of public health systems. During the COVID-19 pandemic, distrust of public health fueled vaccine hesitancy and created additional barriers to immunization. Although most Americans have received at least one COVID-19 vaccine, the percentage of fully immunized adults remains suboptimal. To reach vaccine-hesitant communities, it is vital that public health be worthy of trust. As trusted members of their communities, community health workers (CHWs) can serve as ideal messengers and conversation partners for vaccination decision-making. We developed the Be REAL framework and training materials to prepare CHWs to work with vaccine-hesitant communities nationwide. Through the four steps of "Relate," "Explore," "Assist," and "Leave (the door open)," CHWs were taught to prioritize relationship building as a primary goal. In this shift from focusing on adherence to public health recommendations (e.g., get vaccinated) to building relationships, the value of vaccine uptake is secondary to the quality of the relationship being formed. The Be REAL framework facilitates CHWs harnessing the power they already possess. The goal of the Be REAL framework is to foster true partnership between CHWs and community members, which in turn can help increase trust in the broader public health system beyond adherence to a specific recommendation.

2.
Endocr Pract ; 28(4): 433-448, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35396078

RESUMO

OBJECTIVE: The objective of this disease state clinical review is to provide clinicians with a summary of the nonsurgical, minimally invasive approaches to managing thyroid nodules/malignancy, including their indications, efficacy, side effects, and outcomes. METHODS: A literature search was conducted using PubMed and appropriate key words. Relevant publications on minimally invasive thyroid techniques were used to create this clinical review. RESULTS: Minimally invasive thyroid techniques are effective and safe when performed by experienced centers. To date, percutaneous ethanol injection therapy is recommended for recurrent benign thyroid cysts. Both ultrasound-guided laser and radiofrequency ablation can be safely used for symptomatic solid nodules, both toxic and nontoxic. Microwave ablation and high-intensity focused ultrasound are newer approaches that need further clinical evaluation. Despite limited data, encouraging results suggest that minimally invasive techniques can also be used in small-size primary and locally recurrent thyroid cancer. CONCLUSION: Surgery and radioiodine treatment remain the conventional and established treatments for nodular goiters. However, the new image-guided minimally invasive approaches appear safe and effective alternatives when used appropriately and by trained professionals to treat symptomatic or enlarging thyroid masses.


Assuntos
Ablação por Cateter , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Ablação por Cateter/métodos , Humanos , Radioisótopos do Iodo/uso terapêutico , Recidiva Local de Neoplasia/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/cirurgia , Resultado do Tratamento
3.
Brain Inj ; 36(9): 1196-1203, 2022 07 29.
Artigo em Inglês | MEDLINE | ID: mdl-35996323

RESUMO

BACKGROUND: Physicians play a key role in ensuring athletes with concussion safely return to sport. Research has shown deficiencies in concussion education amongst physicians and medical students. However, studies have not previously been conducted in UK medical schools. OBJECTIVES: To assess students' concussion knowledge and learning in Scottish Medical Schools. DESIGN: A survey with 23 questions was distributed to Year 3-6 medical students studying in Scotland in October 2020. The survey included the following: (1) demographics, (2) concussion knowledge, e.g. 'What is the role of headgear in preventing concussion?' (3) concussion learning, 'In which part of the curriculum should concussion be taught?.' Frequencies of responses were calculated for each question. RESULTS: 200 students responded (response rate 8%). The average symptoms and management score were 87.3% and 31% respectively. 15% of participants knew that headgear has no role in preventing concussions and one participant identified the minimum "return to sport" timeframes for adults and children. 15% had learnt about concussion at medical school with 92.5% interested in receiving concussion teaching at medical school. CONCLUSION: Knowledge gaps exist in managing and preventing sports-related concussion. There is a discrepancy between levels of concussion teaching and the desire and importance placed on concussion education.


Assuntos
Traumatismos em Atletas , Concussão Encefálica , Esportes , Estudantes de Medicina , Adulto , Atletas , Traumatismos em Atletas/diagnóstico , Concussão Encefálica/diagnóstico , Criança , Humanos
4.
Pediatr Exerc Sci ; 34(1): 1-5, 2022 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-34784580

RESUMO

PURPOSE: Using wearable monitoring devices is increasingly ubiquitous, including among young people. However, there is limited evidence of the validity of devices which are aimed at children and adolescents. The purpose of this study was to evaluate the validity of Fitbit Ace and Moki monitors in healthy young adolescents. METHODS: This cross-sectional study included 17 young adolescents (ages 11-13 y) ambulating between 3 different walking conditions (incidental [∼6 min], controlled, and treadmill [each 3 min], while wearing wrist-worn devices [Fitbit Ace, Moki] on each wrist [left and right, respectively]). Data from the devices were compared with observer counts (criterion). Bland-Altman plots and mean absolute percentage errors were computed. RESULTS: Analyses identified that the Fitbit Ace showed higher levels of bias across conditions compared with the Moki device: (mean difference [SD]; Fitbit Ace: 30.0 [38.0], 3.0 [13.0], and 13.0 [23.0] steps and Moki: 1.0 [19.0], 4.0 [16.0], and 6.0 [14.0] steps, incidental, controlled, and treadmill, respectively). Mean absolute percentage errors ranged from 3.1% to 9.5% for the Fitbit Ace and 3.0% to 4.0% for the Moki device. CONCLUSION: The Fitbit Ace and Moki devices might not provide acceptable validity under all walking conditions, but the Moki provides more accurate estimates of incidental walking and might therefore be a good choice for free-living research or school-based interventions.


Assuntos
Acelerometria , Dispositivos Eletrônicos Vestíveis , Adolescente , Criança , Estudos Transversais , Monitores de Aptidão Física , Humanos , Monitorização Ambulatorial , Reprodutibilidade dos Testes , Caminhada
5.
Brain Inj ; 35(9): 1011-1021, 2021 07 29.
Artigo em Inglês | MEDLINE | ID: mdl-34264789

RESUMO

OBJECTIVE: Concussion education strategies that improve knowledge and attitudes long term are needed. This exploratory study piloted an interactive concussion education program, adopting concepts from the learning sciences and attitude change literature, for the underserved and high-risk population of motorsports. METHOD: Forty UK motorsport drivers (ages 16-20 years) participated. The workshop group received a two-phased workshop-based program. The comparison group received a concussion leaflet. Participants completed an adapted version of the Rosenbaum Concussion Knowledge and Attitudes Survey (RoCKAS-ST) at pre-, post- and 2-month follow-up. Within-group analysis for the workshop group explored the differential effect of the individual difference variable, Need for Cognition (NfC), and effectiveness was explored through post-workshop questionnaires and interviews. RESULTS: Unlike the comparison group, the workshop group showed a significant improvement in knowledge over time (F(2,58) = 45.49, p < .001, η2p = .61). Qualitative data indicated workshop-program participants developed safer attitudes toward concussion following programming. Preliminary evidence suggested individuals' responses to concussion education aligned with differences in NfC. CONCLUSION: This study piloted the first concussion education program for motorsport drivers and explored whether aligning educational provision with the NfC construct may help to improve program effectiveness. Findings are relevant to addressing the public health issue of concussion through educational approaches.


Assuntos
Traumatismos em Atletas , Concussão Encefálica , Adolescente , Adulto , Concussão Encefálica/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Projetos Piloto , Inquéritos e Questionários , Adulto Jovem
6.
Clin J Sport Med ; 30(6): 568-577, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-30113965

RESUMO

OBJECTIVE: To assess concussion experiences, knowledge, and attitudes of motorsport medical personnel and drivers and to determine priority areas regarding concussion within the sport. DESIGN: Sequential mixed-method design. Part 1: stakeholder interviews; part 2: cross-sectional online survey. SETTING: United Kingdom. PARTICIPANTS: Part 1: key motorsport stakeholders (N = 8); part 2: motorsport medical personnel and drivers (N = 209) representing amateur and/or professional 4-wheeled motorsport. MAIN OUTCOME MEASURES: Concussion experience, knowledge, attitudes, and perceived priority areas. RESULTS: Thirty-one percent of surveyed drivers (age = 37.91 ± 13.49 years: 89% male) reported suffering from concussion in motorsport. Eighty-seven percent of surveyed medical personnel (age = 48.60 ± 10.68 years: 74% male) reported experience with concussed drivers, and 34% reported feeling pressured to clear a driver with concussion. Gaps in knowledge and misperceptions about concussion were reported in both groups, and disparity between concussion attitudes emerged between drivers and medical personnel. Application of assessment and management procedures varied between medical personnel and there was evidence motorsport policy and concussion guidelines may not be directly followed. According to both medical personnel (77%) and drivers (85%), "education and training" is the top priority area for the sport. CONCLUSIONS: There is clear evidence of concussions in motorsport, but accurate knowledge about this injury is missing. Concussion education and training for all drivers and medical personnel is required. Additional investigations into concussion attitudes are advised to complement and advance simple educational initiatives. Further investigation is also required to determine how to best support motorsport medical personnel, and general practitioners, who hold significant responsibility in guiding drivers from diagnosis to return to racing, and to support the effective implementation of policy.


Assuntos
Traumatismos em Atletas/epidemiologia , Condução de Veículo/estatística & dados numéricos , Concussão Encefálica/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Corpo Clínico/estatística & dados numéricos , Participação dos Interessados , Adulto , Traumatismos em Atletas/complicações , Traumatismos em Atletas/diagnóstico , Atitude , Concussão Encefálica/complicações , Concussão Encefálica/diagnóstico , Competência Clínica , Feminino , Clínicos Gerais/educação , Humanos , Masculino , Corpo Clínico/educação , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Alta do Paciente , Pesquisa Qualitativa , Volta ao Esporte , Inquéritos e Questionários/estatística & dados numéricos , Avaliação de Sintomas , Reino Unido/epidemiologia
7.
Endocr Pract ; 25(7): 729-765, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31070950

RESUMO

The American Association of Clinical Endocrinologists (AACE) has created a transculturalized diabetes chronic disease care model that is adapted for patients across a spectrum of ethnicities and cultures. AACE has conducted several transcultural activities on global issues in clinical endocrinology and completed a 3-city series of conferences in December 2017 that focused on diabetes care for ethnic minorities in the U.S. Proceedings from the "Diabetes Care Across America" series of transcultural summits are presented here. Information from community leaders, practicing health care professionals, and other stakeholders in diabetes care is analyzed according to biological and environmental factors. Four specific U.S. ethnicities are detailed: African Americans, Latino/Hispanics, Asian Americans, and Native Americans. A core set of recommendations to culturally adapt diabetes care is presented that emphasizes culturally appropriate terminology, transculturalization of white papers, culturally adapting clinic infrastructure, flexible office hours, behavioral medicine-especially motivational interviewing and building trust-culturally competent nutritional messaging and health literacy, community partnerships for care delivery, technology innovation, clinical trial recruitment and retention of ethnic minorities, and more funding for scientific studies on epigenetic mechanisms of cultural impact on disease expression. It is hoped that through education, research, and clinical practice enhancements, diabetes care can be optimized in terms of precision and clinical outcomes for the individual and U.S. population as a whole.


Assuntos
Diabetes Mellitus Tipo 2 , Endocrinologia , Asiático , Endocrinologistas , Hispânico ou Latino , Humanos , Sociedades Médicas , Estados Unidos
8.
Endocr Pract ; 25(12): 1346-1359, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31682518

RESUMO

Objective: The development of these updated clinical practice guidelines (CPGs) was commissioned by the American Association of Clinical Endocrinologists (AACE), The Obesity Society, American Society of Metabolic and Bariatric Surgery, Obesity Medicine Association, and American Society of Anesthesiologists Boards of Directors in adherence with the AACE 2017 protocol for standardized production of CPGs, algorithms, and checklists. Methods: Each recommendation was evaluated and updated based on new evidence from 2013 to the present and subjective factors provided by experts. Results: New or updated topics in this CPG include: contextualization in an adiposity-based chronic disease complications-centric model, nuance-based and algorithm/checklist-assisted clinical decision-making about procedure selection, novel bariatric procedures, enhanced recovery after bariatric surgery protocols, and logistical concerns (including cost factors) in the current health-care arena. There are 85 numbered recommendations that have updated supporting evidence, of which 61 are revised and 12 are new. Noting that there can be multiple recommendation statements within a single numbered recommendation, there are 31 (13%) Grade A, 42 (17%) Grade B, 72 (29%) Grade C, and 101 (41%) Grade D recommendations. There are 858 citations, of which 81 (9.4%) are evidence level (EL) 1 (highest), 562 (65.5%) are EL 2, 72 (8.4%) are EL 3, and 143 (16.7%) are EL 4 (lowest). Conclusion: Bariatric procedures remain a safe and effective intervention for higher-risk patients with obesity. Clinical decision-making should be evidence based within the context of a chronic disease. A team approach to perioperative care is mandatory, with special attention to nutritional and metabolic issues. A1C = hemoglobin A1c; AACE = American Association of Clinical Endocrinologists; ABCD = adiposity-based chronic disease; ACE = American College of Endocrinology; ADA = American Diabetes Association; AHI = Apnea-Hypopnea Index; ASA = American Society of Anesthesiologists; ASMBS = American Society of Metabolic and Bariatric Surgery; BMI = body mass index; BPD = biliopancreatic diversion; BPD/DS = biliopancreatic diversion with duodenal switch; CI = confidence interval; CPAP = continuous positive airway pressure; CPG = clinical practice guideline; CRP = C-reactive protein; CT = computed tomography; CVD = cardiovascular disease; DBCD = dysglycemia-based chronic disease; DS = duodenal switch; DVT = deep venous thrombosis; DXA = dual-energy X-ray absorptiometry; EFA = essential fatty acid; EL = evidence level; EN = enteral nutrition; ERABS = enhanced recovery after bariatric surgery; FDA = U.S. Food and Drug Administration; G4G = Guidelines for Guidelines; GERD = gastroesophageal reflux disease; GI = gastrointestinal; HCP = health-care professional(s); HTN = hypertension; ICU = intensive care unit; IGB = intragastric balloon(s); IV = intravenous; LAGB = laparoscopic adjustable gastric band; LAGBP = laparoscopic adjustable gastric banded plication; LGP = laparoscopic greater curvature (gastric) plication; LRYGB = laparoscopic Roux-en-Y gastric bypass; LSG = laparoscopic sleeve gastrectomy; MetS = metabolic syndrome; NAFLD = nonalcoholic fatty liver disease; NASH = nonalcoholic steatohepatitis; NSAID = nonsteroidal anti-inflammatory drug; OA = osteoarthritis; OAGB = one-anastomosis gastric bypass; OMA = Obesity Medicine Association; OR = odds ratio; ORC = obesity-related complication(s); OSA = obstructive sleep apnea; PE = pulmonary embolism; PN = parenteral nutrition; PRM = pulmonary recruitment maneuver; RCT = randomized controlled trial; RD = registered dietician; RDA = recommended daily allowance; RYGB = Roux-en-Y gastric bypass; SG = sleeve gastrectomy; SIBO = small intestinal bacterial overgrowth; TOS = The Obesity Society; TSH = thyroid-stimulating hormone; T1D = type 1 diabetes; T2D = type 2 diabetes; VTE = venous thromboembolism; WE = Wernicke encephalopathy; WHO = World Health Organization.


Assuntos
Cirurgia Bariátrica , Diabetes Mellitus Tipo 2 , Balão Gástrico , Derivação Gástrica , Laparoscopia , Obesidade , Anestesiologistas , Endocrinologistas , Humanos , Estados Unidos
9.
Biochemistry ; 55(24): 3447-60, 2016 06 21.
Artigo em Inglês | MEDLINE | ID: mdl-27254467

RESUMO

Protein structure, ligand binding, and catalytic turnover contributes to the governance of catalytic events occurring at spatially distinct domains in multifunctional enzymes. Coordination of these catalytic events partially rests on the ability of spatially discrete active sites to communicate with other allosteric and active sites on the same polypeptide chain (intramolecular) or on different polypeptide chains (intermolecular) within the holoenzyme. Often, communication results in long-range effects on substrate binding or product release. For example, pyruvate binding to the carboxyl transferase (CT) domain of pyruvate carboxylase (PC) increases the rate of product release in the biotin carboxylase (BC) domain. In order to address how CT domain ligand occupancy is "sensed" by other domains, we generated functional, mixed hybrid tetramers using the E218A (inactive BC domain) and T882S (low pyruvate binding, low activity) mutant forms of PC. The apparent Ka pyruvate for the pyruvate-stimulated release of Pi catalyzed by the T882S:E218A[1:1] hybrid tetramer was comparable to the wild-type enzyme and nearly 10-fold lower than that for the T882S homotetramer. In addition, the ratio of the rates of oxaloacetate formation to Pi release for the WT:T882S[1:1] and E218A:T882S[1:1] hybrid tetramer-catalyzed reactions was 0.5 and 0.6, respectively, while the T882S homotetramer exhibited a near 1:1 coupling of the two domains, suggesting that the mechanisms coordinating catalytic events is more complicated that we initially assumed. The results presented here are consistent with an intermolecular communication mechanism, where pyruvate binding to the CT domain is "sensed" by domains on a different polypeptide chain within the tetramer.


Assuntos
Proteínas de Bactérias/química , Biotina/metabolismo , Carbono-Nitrogênio Ligases/química , Carboxil e Carbamoil Transferases/química , Piruvato Carboxilase/química , Ácido Pirúvico/química , Sequência de Aminoácidos , Proteínas de Bactérias/metabolismo , Sítios de Ligação , Carbono-Nitrogênio Ligases/metabolismo , Carboxil e Carbamoil Transferases/metabolismo , Domínio Catalítico , Cristalografia por Raios X , Cinética , Modelos Moleculares , Mutagênese Sítio-Dirigida , Mutação/genética , Conformação Proteica , Piruvato Carboxilase/genética , Piruvato Carboxilase/metabolismo , Ácido Pirúvico/metabolismo , Homologia de Sequência de Aminoácidos
10.
Alzheimers Res Ther ; 15(1): 172, 2023 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-37828548

RESUMO

BACKGROUND: Compared to standard neuro-diagnostic techniques, retinal biomarkers provide a probable low-cost and non-invasive alternative for early Alzheimer's disease (AD) risk screening. We have previously quantified the periarteriole and perivenule capillary free zones (mid-peripheral CFZs) in cognitively unimpaired (CU) young and older adults as novel metrics of retinal tissue oxygenation. There is a breakdown of the inner retinal blood barrier, pericyte loss, and capillary non-perfusion or dropout in AD leading to potential enlargement of the mid-peripheral CFZs. We hypothesized the mid-peripheral CFZs will be enlarged in CU older adults at high risk for AD compared to low-risk individuals. METHODS: 20 × 20° optical coherence tomography angiography images consisting of 512 b-scans, 512 A-scans per b-scan, 12-µm spacing between b-scans, and 5 frames averaged per each b-scan location of the central fovea and of paired major arterioles and venules with their surrounding capillaries inferior to the fovea of 57 eyes of 37 CU low-risk (mean age: 66 years) and 50 eyes of 38 CU high-risk older adults (mean age: 64 years; p = 0.24) were involved in this study. High-risk participants were defined as having at least one APOE e4 allele and a positive first-degree family history of AD while low-risk participants had neither of the two criteria. All participants had Montreal Cognitive Assessment scores ≥ 26. The mid-peripheral CFZs were computed in MATLAB and compared between the two groups. RESULTS: The periarteriole CFZ of the high-risk group (75.8 ± 9.19 µm) was significantly larger than that of the low-risk group (71.3 ± 7.07 µm), p = 0.005, Cohen's d = 0.55. The perivenule CFZ of the high-risk group (60.4 ± 8.55 µm) was also significantly larger than that of the low-risk group (57.3 ± 6.40 µm), p = 0.034, Cohen's d = 0.42. There were no significant differences in foveal avascular zone (FAZ) size, FAZ effective diameter, and vessel density between the two groups, all p > 0.05. CONCLUSIONS: Our results show larger mid-peripheral CFZs in CU older adults at high risk for AD, with the potential for the periarteriole CFZ to serve as a novel retinal vascular biomarker for early AD risk detection.


Assuntos
Doença de Alzheimer , Capilares , Humanos , Idoso , Pessoa de Meia-Idade , Vasos Retinianos/diagnóstico por imagem , Angiofluoresceinografia/métodos , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/genética , Fundo de Olho , Tomografia de Coerência Óptica/métodos
11.
Front Public Health ; 11: 1195751, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37457264

RESUMO

Introduction: Vaccine hesitancy is a global health threat undermining control of many vaccine-preventable diseases. Patient-level education has largely been ineffective in reducing vaccine concerns and increasing vaccine uptake. We built and evaluated a personalized vaccine risk communication website called LetsTalkShots in English, Spanish and French (Canadian) for vaccines across the lifespan. LetsTalkShots tailors lived experiences, credible sources and informational animations to disseminate the right message from the right messenger to the right person, applying a broad range of behavioral theories. Methods: We used mixed-methods research to test our animation and some aspects of credible sources and personal narratives. We conducted 67 discussion groups (n = 325 persons), stratified by race/ethnicity (African American, Hispanic, and White people) and population (e.g., parents, pregnant women, adolescents, younger adults, and older adults). Using a large Ipsos survey among English-speaking respondents (n = 2,272), we tested animations aligned with vaccine concerns and specific to population (e.g., parents of children, parents of adolescents, younger adults, older adults). Results: Discussion groups provided robust feedback specific to each animation as well as areas for improvements across animations. Most respondents indicated that the information presented was interesting (85.5%), clear (96.0%), helpful (87.0%), and trustworthy (82.2%). Discussion: Tailored vaccine risk communication can assist decision makers as they consider vaccination for themselves, their families, and their communities. LetsTalkShots presents a model for personalized communication in other areas of medicine and public health.


Assuntos
Comunicação , Vacinação , Vacinas , Adolescente , Idoso , Criança , Feminino , Humanos , Gravidez , Negro ou Afro-Americano , Canadá , Medicina de Precisão , Hesitação Vacinal , Risco , Saúde Pública , Promoção da Saúde , Educação em Saúde/métodos , Hispânico ou Latino , Brancos , Adulto Jovem , Pais
13.
J Clin Epidemiol ; 158: 84-91, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37019344

RESUMO

OBJECTIVES: Clinical practice guidelines (CPGs) are often created through collaboration among organizations. The use of inconsistent terminology may cause poor communication and delays. This study aimed to develop a glossary of terms related to collaboration in guideline development. STUDY DESIGN AND SETTING: A literature review of collaborative guidelines was performed to develop an initial list of terms related to guideline collaboration. The list of terms was presented to the members of the Guideline International Network Guidelines Collaboration Working Group, who provided presumptive definitions for each term and proposed additional terms to be included. The revised list was subsequently reviewed by an international, multidisciplinary panel of expert stakeholders. Recommendations received during this pre-Delphi review were implemented to augment an initial draft glossary. The glossary was then critically evaluated and refined through two rounds of Delphi surveys and a virtual consensus meeting with all panel members as Delphi participants. RESULTS: Forty-nine experts participated in the pre-Delphi survey, and 44 participated in the two-round Delphi process. Consensus was reached for 37 terms and definitions. CONCLUSION: Uptake and utilization of this guideline collaboration glossary by key organizations and stakeholder groups may facilitate collaboration among guideline-producing organizations by improving communication, minimizing conflicts, and increasing guideline development efficiency.


Assuntos
Comunicação , Humanos , Consenso , Técnica Delphi
14.
PLoS Genet ; 5(11): e1000728, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19936048

RESUMO

Most of our understanding of plant genome structure and evolution has come from the careful annotation of small (e.g., 100 kb) sequenced genomic regions or from automated annotation of complete genome sequences. Here, we sequenced and carefully annotated a contiguous 22 Mb region of maize chromosome 4 using an improved pseudomolecule for annotation. The sequence segment was comprehensively ordered, oriented, and confirmed using the maize optical map. Nearly 84% of the sequence is composed of transposable elements (TEs) that are mostly nested within each other, of which most families are low-copy. We identified 544 gene models using multiple levels of evidence, as well as five miRNA genes. Gene fragments, many captured by TEs, are prevalent within this region. Elimination of gene redundancy from a tetraploid maize ancestor that originated a few million years ago is responsible in this region for most disruptions of synteny with sorghum and rice. Consistent with other sub-genomic analyses in maize, small RNA mapping showed that many small RNAs match TEs and that most TEs match small RNAs. These results, performed on approximately 1% of the maize genome, demonstrate the feasibility of refining the B73 RefGen_v1 genome assembly by incorporating optical map, high-resolution genetic map, and comparative genomic data sets. Such improvements, along with those of gene and repeat annotation, will serve to promote future functional genomic and phylogenomic research in maize and other grasses.


Assuntos
Pareamento de Bases/genética , Genoma de Planta/genética , Zea mays/genética , Sequência de Bases , Cromossomos de Plantas/genética , Elementos de DNA Transponíveis/genética , Evolução Molecular , Duplicação Gênica , Rearranjo Gênico/genética , Genes de Plantas , Loci Gênicos/genética , Dados de Sequência Molecular , Mutação/genética , Fases de Leitura Aberta/genética , Oryza/genética , Mapeamento Físico do Cromossomo , RNA de Plantas/genética , Homologia de Sequência do Ácido Nucleico , Sorghum/genética , Sintenia/genética
15.
Ann Neurol ; 67(1): 136-40, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20186852

RESUMO

We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness or atrophy was not prominent in affected individuals. Muscle biopsy disclosed a myopathic pattern with cytoplasmic bodies. We used microsatellite markers and found linkage to a locus at Xq26-28, a region harboring the FHL1 gene. We sequenced FHL1 and identified a new missense mutation within the third LIM domain that replaces a highly conserved cysteine by an arginine (c.625T>C; p.C209R). Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes.


Assuntos
Cardiomiopatia Hipertrófica/genética , Contratura/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas Musculares/genética , Mutação de Sentido Incorreto , Adolescente , Adulto , Cardiomiopatia Hipertrófica/patologia , Criança , Contratura/patologia , Família , Feminino , Ligação Genética , Alemanha , Humanos , Proteínas com Domínio LIM , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Linhagem , Fenótipo , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos , Fatores Sexuais , Adulto Jovem
16.
Exp Cell Res ; 316(1): 126-37, 2010 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-19818768

RESUMO

Receptor interacting protein 4 (RIP4) is an important regulator of epidermal morphogenesis during embryonic development. We could previously show that expression of the rip4 gene is strongly downregulated in cutaneous wound repair, which might be initiated by a broad variety of growth factors and cytokines. Here, we demonstrate that in keratinocytes, rip4 expression is controlled by a multitude of different signal transduction pathways, such as the p38 mitogen-activated protein kinase (MAPK) and the nuclear factor kappa B (NF-kappaB) cascade, in a unique and specific manner. Furthermore, we show that the steroid dexamethasone abolishes the physiological rip4 downregulation after injury and might thus contribute to the phenotype of reduced and delayed wound reepithelialization seen in glucocorticoid-treated patients. As a whole, our data indicate that rip4 expression is regulated in a complex manner, which might have therapeutic implications.


Assuntos
Diferenciação Celular/fisiologia , Células Epidérmicas , Queratinócitos/metabolismo , Proteínas Serina-Treonina Quinases/metabolismo , Transdução de Sinais/fisiologia , Cicatrização/fisiologia , Animais , Cálcio/farmacologia , Diferenciação Celular/efeitos dos fármacos , Linhagem Celular , Células Cultivadas , Meios de Cultura Livres de Soro/farmacologia , Curcumina/farmacologia , Citocinas/farmacologia , Dexametasona/farmacologia , Epiderme/efeitos dos fármacos , Epiderme/metabolismo , Feminino , Regulação da Expressão Gênica/efeitos dos fármacos , Regulação da Expressão Gênica/fisiologia , Humanos , Peróxido de Hidrogênio/farmacologia , Peptídeos e Proteínas de Sinalização Intercelular/farmacologia , Queratinócitos/citologia , Queratinócitos/efeitos dos fármacos , Camundongos , Camundongos Endogâmicos BALB C , NF-kappa B/antagonistas & inibidores , NF-kappa B/metabolismo , Inibidores de Proteínas Quinases/farmacologia , Proteínas Quinases/metabolismo , Transdução de Sinais/efeitos dos fármacos , Cicatrização/efeitos dos fármacos , Proteínas Quinases p38 Ativadas por Mitógeno/antagonistas & inibidores , Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo
17.
Exp Cell Res ; 316(5): 728-36, 2010 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-20025869

RESUMO

We could recently demonstrate an important role of receptor interacting protein 4 (RIP4) in the regulation of keratinocyte differentiation. Now, we analyzed a potential role of the RIP4 homolog RIP2 in keratinocytes. Specifically, we demonstrate here that rip2 expression is induced by scratch-wounding and after the induction of differentiation in these cells. Furthermore, serum growth factors and cytokines can induce rip2, with TNF-alpha-dependent induction being dependent on p38 MAPK. In addition, we demonstrate that scratch-induced upregulation of rip2 expression is completely blocked by the steroid dexamethasone. Since we also show that RIP2 is an important player in the regulation of keratinocyte proliferation, these data suggest that inhibition of rip2 upregulation after wounding might contribute to the reduced and delayed wound re-epithelialization phenotype seen in glucocorticoid-treated patients.


Assuntos
Proliferação de Células , Queratinócitos/fisiologia , Proteína Serina-Treonina Quinase 2 de Interação com Receptor/metabolismo , Cicatrização/fisiologia , Diferenciação Celular/fisiologia , Células Cultivadas , Citocinas/metabolismo , Dexametasona/metabolismo , Glucocorticoides/metabolismo , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Queratinócitos/citologia , Proteína Serina-Treonina Quinase 2 de Interação com Receptor/genética , Fator de Necrose Tumoral alfa/metabolismo , Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo
18.
Cortex ; 138: 90-100, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33677330

RESUMO

Neurobiological and cognitive maturational models are the dominant theoretical account of adolescents' risk-taking behavior. Both the protracted development of working memory (WM) through adolescence, as well as individual differences in WM capacity have been theorized to be related to risk-taking behavior, including reckless driving. In a cohort study of 84 adolescent drivers Walshe et al. (2019) found adolescents who crashed had an attenuated trajectory of WM growth compared to adolescent drivers who never reported being in a crash, but observed no difference in WM capacity at baseline. The objectives of this report were to attempt to replicate these associations and to evaluate their robustness using a hybrid multiverse - specification curve analysis approach, henceforth called multiverse representation analysis (MRA). The authors of the original report provided their data: 84 adolescent drivers with annual evaluations of WM and other risk factors from 2005 to 2013, and of driving experiences in 2015. The original analysis was implemented as described in the original report. An MRA approach was used to evaluate the robustness of the association between developmental trajectories of WM and adolescents' risk-taking (indexed by motor vehicle crash involvement) to different reasonable methodological choices. We enumerated 6 reasonable choice points in data processing-analysis configurations: (1) model type: latent growth or multi-level regression, (2) treatment of WM data; (3) which waves are included; (4) covariate treatment; (5) how time is coded; and (6) link function/estimation method: weighted least squares means and variance estimation (WLSMV) with a linear link versus logistic regression with maximum likelihood estimation. This multiverse consists of 96 latent growth models and 18 multi-level regression models.


Assuntos
Condução de Veículo , Acidentes de Trânsito , Adolescente , Cognição , Estudos de Coortes , Humanos , Veículos Automotores , Fatores de Risco
19.
J Opioid Manag ; 17(2): 169-179, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33890280

RESUMO

OBJECTIVE: To date, the majority of studies have focused on the adverse effect of opioid overutilization on outcomes, risk factors for overutilization and dependence, and the development of procedure-specific guidelines. We present the results of a multiphased approach to reducing opioid prescribing. DESIGN: A retrospective pre-post study of opioid prescriptions across 386,393 patient encounters was conducted. The preintervention cohort included patient encounters from November 2016 to March 2017, and the post-intervention cohort included encounters from April 2017 to October 2019. SETTING: Single-institution orthopedic practice. PATIENTS, PARTICIPANTS: 386,393 patient encounters. INTERVENTION: Multiple prescribing reduction interventions were implemented from April 2017 to July 2018. MAIN OUTCOME MEASURE: Average morphine milligram equivalent (MME) per patient encounter. RESULTS: Implementation of the interventions resulted in an average reduction of 15.2 MME per encounter (54.5 percent) compared to the preimplementation cohort (pre: avg. MME = 27.9, SD 113.6; post: avg. MME = 12.7, SD 66.1; p < 0.001). The number of pills per opioid prescription was reduced by 13.4 (29.5 percent) (pre: avg. pill count = 45.5, S.D. 25.1; post: avg. pill count = 32.1, SD 21.1; p < 0.001), and the percent of patients receiving opioids was reduced from 8.3 percent to 5.8 percent (p < 0.001). Prescribing compliance was evaluated for 7,664 surgical encounters, with 98.2 percent of prescriptions meeting stated guidelines; 5.5 percent of these encounters required second prescriptions. CONCLUSIONS: The use of a multiphase approach effectively reduced the opioid prescribing patterns of a large orthopedic practice and was successful across subspecialties. This approach provides a template that other institutions may use to reduce opioid overprescribing in orthopedic practices.


Assuntos
Analgésicos Opioides , Ortopedia , Analgésicos Opioides/efeitos adversos , Prescrições de Medicamentos , Humanos , Dor Pós-Operatória/tratamento farmacológico , Padrões de Prática Médica , Estudos Retrospectivos
20.
Artigo em Inglês | MEDLINE | ID: mdl-33805249

RESUMO

COVID-19 restrictions led to reduced levels of physical activity, increased screen usage, and declines in mental health in youth; however, in-depth understandings of the experiences of high school student-athletes have yet to be explored. To describe the experiences of the COVID-19 pandemic on student-athletes' physical activity, social connection, and mental health, 20 high school student-athletes living in Calgary, Alberta participated in semi-structured interviews, designed using phenomenography. Participants reported variations in physical activity, social connections, and mental health which were influenced by stay-at-home restrictions and weather. Access to resources, changes to routines, online classes, and social support all influenced engagement in physical activity. School and sports provided opportunities for in-person social connections, impacted by the onset of the pandemic. Participants reported their mental health was influenced by social connections, online classes, and physical activity. Findings from this study will inform the development of resources for high school student-athletes amidst COVID-19.


Assuntos
COVID-19 , Saúde Mental , Adolescente , Alberta/epidemiologia , Atletas , Exercício Físico , Humanos , Pandemias , SARS-CoV-2 , Instituições Acadêmicas , Estudantes
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