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1.
J Biol Chem ; 298(9): 102261, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35843310

RESUMO

Regulation of protein synthesis is critical for control of gene expression in all cells. Ribosomes are ribonucleoprotein machines responsible for translating cellular proteins. Defects in ribosome production, function, or regulation are detrimental to the cell and cause human diseases, such as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. PEHO syndrome is a devastating neurodevelopmental disorder caused by mutations in the ZNHIT3 gene, which encodes an evolutionarily conserved nuclear protein. The precise mechanisms by which ZNHIT3 mutations lead to PEHO syndrome are currently unclear. Studies of the human zinc finger HIT-type containing protein 3 homolog in budding yeast (Hit1) revealed that this protein is critical for formation of small nucleolar ribonucleoprotein complexes that are required for rRNA processing and 2'-O-methylation. Here, we use budding yeast as a model system to reveal the basis for the molecular pathogenesis of PEHO syndrome. We show that missense mutations modeling those found in PEHO syndrome patients cause a decrease in steady-state Hit1 protein levels, a significant reduction of box C/D snoRNA levels, and subsequent defects in rRNA processing and altered cellular translation. Using RiboMethSeq analysis of rRNAs isolated from actively translating ribosomes, we reveal site-specific changes in the rRNA modification pattern of PEHO syndrome mutant yeast cells. Our data suggest that PEHO syndrome is a ribosomopathy and reveal potential new aspects of the molecular basis of this disease in translation dysregulation.


Assuntos
Edema Encefálico , Doenças Neurodegenerativas , Proteínas Nucleares , Atrofia Óptica , Ribonucleoproteínas Nucleolares Pequenas , Proteínas de Saccharomyces cerevisiae , Saccharomyces cerevisiae , Espasmos Infantis , Fatores de Transcrição , Edema Encefálico/genética , Humanos , Recém-Nascido , Mutação , Doenças Neurodegenerativas/genética , Proteínas Nucleares/genética , Atrofia Óptica/genética , RNA Nucleolar Pequeno/metabolismo , Ribonucleoproteínas Nucleolares Pequenas/genética , Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/genética , Espasmos Infantis/genética , Fatores de Transcrição/genética
2.
Appetite ; 169: 105808, 2022 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-34798226

RESUMO

BACKGROUND: Fear of food and behavioral avoidance of specific foods, food groups, and food related social situations can substantially reduce health related quality of life in individuals with a wide range of conditions that affect appetite, eating behavior, and digestion, including irritable bowel syndrome (IBS), inflammatory bowel disease (IBD), vomit and choking phobias, and food allergies/sensitivities. When this avoidance leads to weight/nutritional and/or psychosocial impairment, the diagnostic criteria for Avoidant/restrictive food intake disorder (ARFID) are met. Fear of food is an important target for interventions designed to improve psychosocial functioning and quality of life in such individuals. The purpose of this research was to develop and validate a novel measure of fear of food. METHODS: Participants (n = 1138) were recruited from ongoing clinical trials for both IBD and IBS, from Amazon's Mechanical Turk, from Reddit support forums for IBS, IBD, and vomit phobia, and from an undergraduate subject pool. Exploratory and confirmatory factor analysis, Pearson's correlations, one-way ANOVA, and intraclass correlation coefficients were used to assess the validity and reliability of the Fear of Food Questionnaire. RESULTS: The final 18 item questionnaire showed excellent internal consistency, test-retest reliability, convergent validity, discriminative (known groups) validity, as well as good factor structure. Fear of food was highly correlated with visceral hypersensitivity, catastrophizing, GI symptom severity and health related quality of life, as well as with self-reported Fear-ARFID symptoms. Individuals meeting study criteria for Fear-ARFID reported the highest scores relative to control and other analogue clinical groups. CONCLUSION: The Fear of Food Questionnaire appears to be reliable and valid across populations and may be a valuable tool in the assessment and treatment of Fear-ARFID.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Qualidade de Vida , Medo , Humanos , Reprodutibilidade dos Testes , Inquéritos e Questionários
3.
Artigo em Inglês | MEDLINE | ID: mdl-35113605

RESUMO

OBJECTIVE: Late life anxiety and depression represent a significant source of disability, with racial/ethnic minority older adults in the U.S. showing marked disparities in healthy aging. Community-based organizations (CBOs) and community clinics serve these populations for preventive care, yet few identify their mental health service needs. We examine the association between race/ethnicity and risk of mild-to-severe symptoms of anxiety and depression, and suicidal behaviors in minority older adults. METHOD: Data come from the multisite randomized controlled trial Building Community Capacity for Disability Prevention for Minority Elders, which screened 1,057 adults (45.5% Asian, 26.8% Latinx, 15.0% non-Latinx Black, 8.5% non-Latinx White, and 4.2% American Indian) aged 60 + years at CBOs and clinics in Massachusetts, New York, Florida, and Puerto Rico. Screened participants completed the Generalized Anxiety Disorder-7 (GAD-7) for anxiety symptoms, the Geriatric Depression Scale-15 (GDS-15) for depression symptoms, and the Paykel Suicide Risk Questionnaire for suicidal behaviors. RESULTS: 28.1% of older adults reported mild-to-severe anxiety symptoms, 30.1% reported mild-to-severe depression symptoms, and 4.3% reported at least one suicidal behavior. Compared to non-Latinx Whites, Latinxs had higher odds of mild-to-severe anxiety and depression symptoms and one or more suicidal behaviors, and Asians had higher odds of mild-to-severe depression symptoms only. CONCLUSIONS: There is an urgent need to improve outreach for screening and preventive mental health care for minority older adults. Expanding outreach and community-based capacity to identify and treat minority older adults with mental health conditions represents an opportunity to prevent disability. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

4.
J Gen Intern Med ; 36(5): 1319-1326, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33694071

RESUMO

BACKGROUND: The HERO registry was established to support research on the impact of the COVID-19 pandemic on US healthcare workers. OBJECTIVE: Describe the COVID-19 pandemic experiences of and effects on individuals participating in the HERO registry. DESIGN: Cross-sectional, self-administered registry enrollment survey conducted from April 10 to July 31, 2020. SETTING: Participants worked in hospitals (74.4%), outpatient clinics (7.4%), and other settings (18.2%) located throughout the nation. PARTICIPANTS: A total of 14,600 healthcare workers. MAIN MEASURES: COVID-19 exposure, viral and antibody testing, diagnosis of COVID-19, job burnout, and physical and emotional distress. KEY RESULTS: Mean age was 42.0 years, 76.4% were female, 78.9% were White, 33.2% were nurses, 18.4% were physicians, and 30.3% worked in settings at high risk for COVID-19 exposure (e.g., ICUs, EDs, COVID-19 units). Overall, 43.7% reported a COVID-19 exposure and 91.3% were exposed at work. Just 3.8% in both high- and low-risk settings experienced COVID-19 illness. In regression analyses controlling for demographics, professional role, and work setting, the risk of COVID-19 illness was higher for Black/African-Americans (aOR 2.32, 99% CI 1.45, 3.70, p < 0.01) and Hispanic/Latinos (aOR 2.19, 99% CI 1.55, 3.08, p < 0.01) compared with Whites. Overall, 41% responded that they were experiencing job burnout. Responding about the day before they completed the survey, 53% of participants reported feeling tired a lot of the day, 51% stress, 41% trouble sleeping, 38% worry, 21% sadness, 19% physical pain, and 15% anger. On average, healthcare workers reported experiencing 2.4 of these 7 distress feelings a lot of the day. CONCLUSIONS: Healthcare workers are at high risk for COVID-19 exposure, but rates of COVID-19 illness were low. The greater risk of COVID-19 infection among race/ethnicity minorities reported in the general population is also seen in healthcare workers. The HERO registry will continue to monitor changes in healthcare worker well-being during the pandemic. TRIAL REGISTRATION: ClinicalTrials.gov identifier NCT04342806.


Assuntos
COVID-19 , Pandemias , Adulto , Estudos Transversais , Feminino , Pessoal de Saúde , Humanos , Masculino , Sistema de Registros , SARS-CoV-2
5.
J Clin Psychol Med Settings ; 27(3): 467-479, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-31025253

RESUMO

Patients with inflammatory bowel disease (IBD) often have poor health-related quality of life (HRQL) and are at risk for anxiety and depression. Cognitive behavioral therapy (CBT) can help patients with IBD cope with their disease. Unfortunately, barriers to care include expense and availability of qualified therapists. Stand-alone, self-help CBT could improve access to care. This study examined the effectiveness of a self-help CBT workbook for patients with IBD. A randomized controlled trial compared the CBT workbook to an active psychoeducational control workbook. A total of 140 participants enrolled. In both groups, scores improved on a range of measures, including catastrophizing, visceral sensitivity, and HRQL, although pre-post effect sizes were generally larger in the CBT group. Only participants in the CBT group experienced significant improvements in anxiety and depression. Improvements were generally maintained or consolidated at 3-month follow-up. Self-help CBT can be an effective and inexpensive way to improve HRQL for patients with IBD.


Assuntos
Terapia Cognitivo-Comportamental/métodos , Doenças Inflamatórias Intestinais , Qualidade de Vida , Adaptação Psicológica , Adolescente , Adulto , Idoso , Ansiedade , Transtornos de Ansiedade , Depressão , Feminino , Comportamentos Relacionados com a Saúde , Humanos , Doenças Inflamatórias Intestinais/psicologia , Doenças Inflamatórias Intestinais/terapia , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
6.
Clin Trials ; 16(3): 290-296, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30866676

RESUMO

BACKGROUND/AIMS: Obtaining ethical approval from multiple institutional review boards is a long-standing challenge to multi-site clinical trials and often leads to significant delays in study activation and enrollment. As of 25 January 2018, the National Institutes of Health began requiring use of a single institutional review board for US multi-site trials. To learn more and further inform the research and regulatory communities around aspects of transitioning to single institutional review board review, this study evaluated the efficiency, resource use, and user perceptions of a nascent institutional review board reliance model (Streamlined, Multi-site, Accelerated Resources for Trials IRB Reliance). METHODS: This research was embedded within the Influenza Vaccine to Effectively Stop Cardio Thoracic Events and Decompensated Heart Failure trial-a multi-site trial of two influenza vaccine formulations. In the first year of the trial, a sample of sites agreed to use the developing Streamlined, Multi-site, Accelerated Resources for Trials IRB Reliance model and participated in its evaluation. In keeping with a least burdensome approach, short surveys were developed and obtained from each reporting entity (relying sites, non-relying site, lead site, and reviewing institutional review board). Data regarding time to institutional review board approval and site activation, costs, and user perceptions of reliant review were self-reported and collected via the survey form. Quantitative and qualitative analyses were performed, with costs analyzed as actual versus estimated due to the lack of established baseline cost data. RESULTS: A total of 13 sites ceded review and received institutional review board approval. Mean time to approval was substantially faster in sites that ceded review using the Streamlined, Multi-site, Accelerated Resources for Trials IRB Reliance model versus the site that did not cede review (81 vs 121 days). The mean time to approval was also faster than published averages for academic medical centers (81 vs 103 days). Time to first enrollment was faster for ceding sites versus the non-ceding site, and also faster than published averages (126 vs 149 and 169 days, respectively). Costs were higher than estimates for local institutional review board review and approval. Nearly half (47%) the stakeholders reported being very satisfied or satisfied with the reliance experience, although many noted the challenge related to institutional culture change. CONCLUSION: Implementation of a single institutional review board represents a shift in practice and culture for many institutions. Evaluation of the reliance arrangements for this study highlights both the potential of, and challenges for, institutions as they transition to single institutional review board review. Although efficiencies were observed for study start-up, we anticipate a learning curve as institutions and research teams implement necessary process and resource changes to adapt to single institutional review board oversight. Findings may inform research teams but are, however, limited by the relatively small number of sites and lack of a control group.


Assuntos
Pesquisa Biomédica/organização & administração , Ensaios Clínicos como Assunto/organização & administração , Comitês de Ética em Pesquisa/organização & administração , Estudos Multicêntricos como Assunto/normas , National Institutes of Health (U.S.)/organização & administração , Centros Médicos Acadêmicos , Pesquisa Biomédica/normas , Ensaios Clínicos como Assunto/normas , Eficiência Organizacional , Comitês de Ética em Pesquisa/normas , Humanos , Vacinas contra Influenza/administração & dosagem , Vacinas contra Influenza/economia , National Institutes of Health (U.S.)/normas , Fatores de Tempo , Estados Unidos
7.
BMC Health Serv Res ; 14: 78, 2014 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-24552252

RESUMO

BACKGROUND: There is conflicting evidence regarding characteristics of patients most likely to have poor outcomes after referral to a multidisciplinary weight loss clinic. The aim of this study was to identify patient characteristics associated with poor attendance and poor weight outcomes at a weight management clinic based in an Australian tertiary hospital. METHODS: Patient characteristics including age, sex, referral source, postcode of residence, weight, body mass index (BMI) and the presence of specific comorbidities were recorded. Outcome measures included questionnaire return following referral (a requirement prior to a first appointment being scheduled), percentage of appointments attended and rate of weight change (kg/month). Continuous variables were expressed as mean ± standard deviation and compared using a t-test. Categorical data were presented as proportions and a chi-squared test was used to test significance. Statistical significance was set as p < 0.05. RESULTS: Of 502 patients referred to the Comprehensive Metabolic Care Centre (CMCC), 231 (46%) did not return their questionnaire. Patients referred by their GP, compared to those with only internal hospital referrals, were more likely to return their questionnaire (86.0% cf. 77.9%; p = 0.02) as were those who had their BMI recorded in their referral letter (58% cf 45% p = 0.011). 28.1% of patients attended half or less of their scheduled appointments at the CMCC but none of the parameters analysed was associated with attendance. Weight loss was associated with residence in a rural location (p = 0.016) and hypercholesterolaemia (p = 0.03) and weight gain was associated with obstructive sleep apnoea (p = 0.04). CONCLUSIONS: A large proportion of the patients referred to a weight management clinic never had an appointment scheduled. Clinicians should not anticipate greater compliance in one patient demographic than another; all groups need focus, particularly at the referral stage, and likely poor compliance must be anticipated and better managed.


Assuntos
Obesidade/terapia , Cooperação do Paciente/estatística & dados numéricos , Programas de Redução de Peso , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Austrália/epidemiologia , Índice de Massa Corporal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/psicologia , Cooperação do Paciente/psicologia , Estudos Retrospectivos , Inquéritos e Questionários , Resultado do Tratamento , Redução de Peso , Programas de Redução de Peso/estatística & dados numéricos , Adulto Jovem
8.
J Gerontol Nurs ; 40(1): 41-9, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23937102

RESUMO

Research within residential care/assisted living (RC/AL) settings has shown that the attitudes of personal care (PC) staff toward their organization and its residents and families can affect the quality of resident care. This article describes the perceptions, experiences, and attitudes of PC staff and their supervisors, and considers these data in the context of non-hierarchical staffing patterns-a philosophically expected, yet unproven tenet of RC/AL. Using data collected from 18 RC/AL communities, these analyses compared the characteristics, perceptions, experiences, and attitudes of PC staff (N = 250) and supervisors (N = 30). Compared to supervisors, PC staff reported greater burden, frustration, depersonalization, hassles, and feeling significantly more controlling of, and less in partnership with, families (p < 0.05). Because the PC staff experience is crucial for resident outcomes, more work is needed to create an environment where PC staff are less burdened and have better attitudes toward work and families.


Assuntos
Moradias Assistidas , Atitude do Pessoal de Saúde , Humanos , Recursos Humanos
9.
Clin Gerontol ; 37(5): 429-445, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-29033493

RESUMO

As a result of the Centers for Medicare & Medicaid Services (CMS) interest in creating a unifying definition of "community living" for its Medicaid Home and Community Based Services and Support (HCBS) programs, it needed clarifying descriptors of person-centered (PC) practices in assisted living to distinguish them from institutional ones. Additionally, CMS's proposed language defining "community living" had the unintended potential to exclude many assisted living communities and disadvantage residents who receive Medicaid. This manuscript describes the consensus process through which clarifying language for "community living" and a framework for HCBS PC domains, attributes, and indicators specific to assisted living were developed. It examines the validity of those domains based on literature review, surveys, and stakeholder focus groups, and identifies nine domains and 43 indicators that provide a foundation for defining and measuring PC practice in assisted living. Ongoing efforts using community-based participatory research methods are further refining and testing PC indicators for assisted living to advance knowledge, operational policies, practices, and quality outcomes.

10.
Am J Med Sci ; 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38885928

RESUMO

BACKGROUND: The presence of "muddy" brown granular casts (MBGC) in the urine sediment is pathognomonic for acute tubular injury (ATI). Although MBGC have been noted for years, there are no reports regarding their length nor width. The objective of this study was to measure MBGC using images obtained by light microscopy and investigate associations with clinically relevant parameters. METHODS: Patients with diagnosis of ATI as evidenced by visualization of abundant MBGC (>30% low power fields) were sampled. Bright-field images were measured using ImageJ. Twenty-five patients were included: 44% women; median age 64 yrs; 52% white, 36% black. Mean MBGC width (n = 350) was 34.4 ± 13.1 µm (range: 9 to 110 µm). RESULTS: Mean MBGC length was 98.7 ± 42.7 µm (range: 33 to 317 µm). Based on a previous report of cortical tubular diameters, MBGC width corresponded well with the median reported range. MBGC width was positively correlated with patient height (ρ=0.41, p=0.04), and length was positively correlated with fractional excretion of sodium (ρ=0.57. p=0.02) and urine chloride concentration (ρ=0.90, p=0.001). Mean MBGC length was negatively correlated with age (ρ=-0.47, p=0.02) and urine phosphate concentration (ρ=-0.72, p=0.03). There were no differences between cases that required renal replacement therapy (RRT, n =10) and those that did not require RRT (n=15). CONCLUSION: This is the first study reporting dimensions of MBGC from cases with ATI. Clinical implications of these observations require further study.

12.
ANZ J Surg ; 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38747542

RESUMO

BACKGROUND: Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) is traditionally a maximally invasive operation with a large abdominal incision and multi-visceral resections. However, to minimize abdominal wall morbidity and improve functional recovery, some centres have adopted a minimally invasive (MI) approach in select cases. The primary aim of this systematic review and meta-analysis was to assess the evidence for safety and patient selection for minimally invasive approaches to CRS and HIPEC with curative intent. METHODS: A PRISMA-compliant systematic review was performed using three electronic databases: Ovid MEDLINE, EMBASE and Web of Science. Data regarding postoperative morbidity was meta-analysed. RESULTS: Thirteen studies met the inclusion criteria (N = 462 MI patients), all of which were retrospective in design. Six studies included an open comparison group. Pseudomyxoma peritonei, mesothelioma and ovarian carcinoma made up the majority of cases (>90%), with a PCI < 10 listed as a prerequisite to selection across all studies. On pooled analysis there was no difference in major morbidity between MI and open groups (OR 0.52 95% CI 0.18-1.46, P = 0.33). There was one perioperative death reported in the MI group. Length of stay appeared shorter in the MI group (median range MI: 4-11 v Open: 7-13 days). Short-term recurrence and overall survival between both groups also appeared no different. CONCLUSION: Minimally invasive CRS and HIPEC appears feasible and safe in appropriately selected patients. Clear histological stratification and longer term follow up is required to determine oncological safety, particularly in more aggressive tumours such as colorectal peritoneal metastases.

13.
BMC Health Serv Res ; 13: 411, 2013 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-24119332

RESUMO

BACKGROUND: Retirement migration from northern countries to southern countries is increasing in both Europe and North America, and retiree experiences will impact future migration and health services utilization. We therefore sought to describe the healthcare experiences and perceptions of retired U.S. citizens currently living in Mexico and Panama. METHODS: 46 retired U.S. citizens (23 per country) who had been hospitalized (61%) or had a chronic health condition (78%) in two regions per country with large communities of retired U.S. citizens were identified. Detailed semi-structured interviews were conducted to explore experiences with, attitudes toward, and costs of healthcare. Interviews were analyzed using quantitative and qualitative methods. RESULTS: Respondents averaged 68-70 years old, were well educated, had few physical dependencies, and had moderate incomes. They praised physician services as more personalized than in the U.S. and home care as inexpensive and widely available, expressed favorable opinions regarding outpatient and dental care, gave mixed ratings on hospital services, and expressed concerns about emergency services. Numerous concerns about health insurance were expressed, including the unavailability of Medicare and reductions in Tricare. Payment concerns and lack of data on local health providers made deciding where to obtain services challenging. CONCLUSIONS: Retirees living abroad report dilemmas regarding healthcare choices, insurance availability, and quality of care. As this population segment grows, pressure will increase for policy and business solutions to existing medical care challenges.


Assuntos
Atenção à Saúde , Aposentadoria , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Entrevistas como Assunto , Masculino , México , Pessoa de Meia-Idade , Panamá , Satisfação do Paciente , Qualidade da Assistência à Saúde , Aposentadoria/estatística & dados numéricos , Estados Unidos/epidemiologia
14.
J Gerontol Soc Work ; 56(6): 535-53, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23869592

RESUMO

Nursing homes and residential care/assisted living settings provide care to 2.4 million individuals. Few studies compare the experience of, and relationships between, family and staff in these settings, despite ongoing family involvement and evidence that relationships are problematic. Data from 488 families and 397 staff members in 24 settings examined family involvement and family and staff burden, depressive symptoms, and perceptions; and staff absenteeism and turnover. There were few differences across setting types. Although conflict rarely occurred, there was room for improvement in family-staff relations; this area, and preparing family for their caregiving roles, are appropriate targets for social work intervention.


Assuntos
Moradias Assistidas , Família/psicologia , Casas de Saúde , Serviço Social , Absenteísmo , Adulto , Idoso , Moradias Assistidas/estatística & dados numéricos , Esgotamento Profissional/epidemiologia , Conflito Psicológico , Depressão/epidemiologia , Feminino , Instituição de Longa Permanência para Idosos/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , North Carolina , Casas de Saúde/estatística & dados numéricos , Reorganização de Recursos Humanos , Recursos Humanos , Carga de Trabalho
15.
bioRxiv ; 2023 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-37904946

RESUMO

The RNA exosome is an evolutionarily conserved exoribonuclease complex that consists of a 3-subunit cap, a 6-subunit barrel-shaped core, and a catalytic base subunit. Missense mutations in genes encoding structural subunits of the RNA exosome cause a growing family of diseases with diverse pathologies, collectively termed RNA exosomopathies. The disease symptoms vary and can manifest as neurological defects or developmental disorders. The diversity of the RNA exosomopathy pathologies suggests that the different missense mutations in structural genes result in distinct in vivo consequences. To investigate these functional consequences and distinguish whether they are unique to each RNA exosomopathy mutation, we generated a collection of in vivo models using budding yeast by introducing pathogenic missense mutations in orthologous S. cerevisiae genes. We then performed a comparative RNA-seq analysis to assess broad transcriptomic changes in each mutant model. Three of the mutant models rrp4-G226D, rrp40-W195R and rrp46-L191H, which model mutations in the genes encoding structural subunits of the RNA exosome, EXOSC2, EXOSC3 and EXOSC5 showed the largest transcriptomic differences. Further analyses revealed shared increased transcripts enriched in translation or ribosomal RNA modification/processing pathways across the three mutant models. Studies of the impact of the mutations on translation revealed shared defects in ribosome biogenesis but distinct impacts on translation. Collectively, our results provide the first comparative analysis of several RNA exosomopathy mutant models and suggest that different RNA exosomopathy mutations result in in vivo consequences that are both unique and shared across each variant, providing more insight into the biology underlying each distinct pathology.

16.
ANZ J Surg ; 93(7-8): 1877-1884, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37173802

RESUMO

BACKGROUND: Colorectal surgical procedures can have a significant impact on quality-of-life (QoL), functional and symptom outcomes. This retrospective study conducted in a tertiary care center evaluated the influence of four colorectal surgical procedures on patient-reported outcome measures (PROMs). METHODS: 512 patients undergoing colorectal neoplasia surgery between June 2015 and December 2017 were identified via the Cabrini Monash Colorectal Neoplasia database. Primary outcomes measured were the mean changes in PROMs following surgery utilizing the International Consortium of Health Outcome Measures colorectal cancer (CRC) PROMs. RESULTS: 242 patients from 483 eligible patients responded (50% participation rate). Responders and non-responders were comparable in median age (72 vs. 70 years), gender (48% vs. 52% male), time from surgery (<1 and >1 year), overall stage at diagnosis and type of surgery. Respondents underwent either a right hemicolectomy, ultra-low anterior resection, abdominoperineal resection or a transanal endoscopic microsurgery/transanal minimally invasive surgery. Right hemicolectomy patients reported the best post-operative function and reduced symptoms, significantly better (P < 0.01) than ultra-low anterior resection patients who reported the worst outcomes in multiple areas (body image, embarrassment, flatulence, diarrhoea, stool frequency). Furthermore, patients undergoing an abdominoperineal resection reported the worst scores for body image, urinary frequency, urinary incontinence, buttock pain, faecal incontinence and male impotence. CONCLUSIONS: The differences in PROMs in CRC surgical procedures is demonstrable. The worst post-operative functional and symptom scores were reported after either an ultra-low anterior resection or an abdominoperineal resection. Implementation of PROMs will identify and aid early patient referral to allied health and support services.


Assuntos
Neoplasias Colorretais , Neoplasias Retais , Humanos , Masculino , Feminino , Qualidade de Vida , Estudos Retrospectivos , Neoplasias Colorretais/cirurgia , Endoscopia , Colectomia , Neoplasias Retais/cirurgia , Resultado do Tratamento , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/cirurgia
17.
J Diabetes Sci Technol ; : 19322968231171616, 2023 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-37162023

RESUMO

OBJECTIVE: People with diabetes have an increased risk of depression, intentional self-injury and self-harm (ISI), and suicide compared with the general population. This study aimed to explore experiences and awareness of health care professionals (HCPs) regarding depression, ISI, and suicide, and understand resource use and needs among HCPs who care for persons with diabetes (PWD). METHODS: Health care professionals who see children and/or adults with type 1 diabetes or type 2 diabetes anonymously completed an online survey about their experiences, opinions, barriers, and needs surrounding identification and care of PWD with depression, ISI, and suicide. RESULTS: One hundred twenty-nine HCPs participated. The majority were medical doctors (MDs) or advanced practice providers (APPs). Only a quarter of MDs and APPs felt very comfortable asking about ISI or suicidal ideation (SI), whereas 20% felt they had received appropriate training to support those with ISI or SI. The primary needs reported include more training on how to ask, respond, and support those expressing ISI and SI. Health care professionals reported wanting better access to resources for PWD. DISCUSSION: The HCPs tend to underestimate SI in the diabetes population and rates of training were low. Areas to address include providing education and training to HCPs to improve identification and management of ISI and suicide risk. These data can inform the development of mechanisms to improve discussions of depression and suicide and of resources to help HCPs support PWD.

18.
Int J Infect Dis ; 129: 40-48, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36682681

RESUMO

OBJECTIVES: To determine whether hydroxychloroquine (HCQ) is safe and effective at preventing COVID-19 infections among health care workers (HCWs). METHODS: In a 1: 1 randomized, placebo-controlled, double-blind, parallel-group, superiority trial at 34 US clinical centers, 1360 HCWs at risk for COVID-19 infection were enrolled between April and November 2020. Participants were randomized to HCQ or matched placebo. The HCQ dosing included a loading dose of HCQ 600 mg twice on day 1, followed by 400 mg daily for 29 days. The primary outcome was a composite of confirmed or suspected COVID-19 clinical infection by day 30, defined as new-onset fever, cough, or dyspnea and either a positive SARS-CoV-2 polymerase chain reaction test (confirmed) or a lack of confirmatory testing due to local restrictions (suspected). RESULTS: Study enrollment closed before full accrual due to recruitment challenges. The primary end point occurred in 41 (6.0%) participants receiving HCQ and 53 (7.8%) participants receiving placebo. No difference in the proportion of participants experiencing clinical infection (estimated difference of -1.8%, 95% confidence interval -4.6-0.9%, P = 0.20) was identified nor any significant safety issues. CONCLUSION: Oral HCQ taken as prescribed appeared safe among HCWs. No significant clinical benefits were observed. The study was not powered to detect a small but potentially important reduction in infection. TRIAL REGISTRATION: NCT04334148.


Assuntos
COVID-19 , Profilaxia Pré-Exposição , Humanos , COVID-19/prevenção & controle , SARS-CoV-2 , Hidroxicloroquina/efeitos adversos , Tratamento Farmacológico da COVID-19 , Pessoal de Saúde , Resultado do Tratamento
19.
Qual Life Res ; 21(4): 671-84, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-21814875

RESUMO

PURPOSE: Quality of care for long-term care (LTC) residents with dementia at the end-of-life is often evaluated using standardized instruments that were not developed for or thoroughly tested in this population. Given the importance of using appropriate instruments to evaluate the quality of care (QOC) and quality of dying (QOD) in LTC, we compared the validity and reliability of ten available instruments commonly used for these purposes. METHODS: We performed prospective observations and retrospective interviews and surveys of family (n = 70) and professionals (n = 103) of LTC decedents with dementia in the Netherlands. RESULTS: Instruments within the constructs QOC and QOD were highly correlated, and showed moderate to high correlation with overall assessments of QOC and QOD. Prospective and retrospective ratings using the same instruments differed little. Concordance between family and professional scores was low. Cronbach's alpha was mostly adequate. The EOLD-CAD showed good fit with pre-assumed factor structures. The EOLD-SWC and FPCS appear most valid and reliable for measuring QOC, and the EOLD-CAD and MSSE for measuring QOD. The POS performed worst in this population. CONCLUSIONS: Our comparative study of psychometric properties of instruments allows for informed selection of QOC and QOD measures for LTC residents with dementia.


Assuntos
Demência , Psicometria/instrumentação , Qualidade de Vida , Inquéritos e Questionários/normas , Assistência Terminal , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Entrevistas como Assunto , Assistência de Longa Duração , Masculino , Países Baixos , Estudos Prospectivos , Estudos Retrospectivos
20.
J Gerontol Soc Work ; 55(5): 444-61, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22783960

RESUMO

Meeting psychosocial needs of nursing home residents is increasingly regarded as a critical component of care, and the nationally-mandated nursing home care screening instrument- the Minimum Data Set (MDS) 3.0-was modified and implemented in 2010 to promote better assessment of psychosocial needs and health. Recognizing the importance of psychosocial well-being among nursing home residents, and the promise of MDS 3.0 for improving psychosocial care, this article reports recommendations derived from a conference of stakeholders representing diverse disciplines and organizations regarding next steps following MDS 3.0 screening. Results relate to seven areas of psychosocial care and address cross-cutting recommendations to improve psychosocial care.


Assuntos
Necessidades e Demandas de Serviços de Saúde , Serviços de Saúde para Idosos/normas , Casas de Saúde/normas , Qualidade da Assistência à Saúde/normas , Congressos como Assunto , Humanos , Serviço Social
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