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AIMS: To explore the emotional wellbeing of dementia carers in the lead up to and during transition of a person living with dementia to a residential aged care facility. DESIGN: An interpretative qualitative study. METHODS: Semi-structured interviews were conducted with informal carers of person living with dementia between February and June 2023. Data were analysed using an inductive thematic approach and resulted in three themes. RESULTS: The majority of carers were adult children (n = 19) and six were wives. Carers lived across metropolitan (n = 20) and regional settings (n = 5) in the most populous state of Australia. Three themes were identified which were attributed to different aspects of the carer role: (1) Carer emotional journey as dementia progresses - impacted by knowledge and lack of support; (2) Questioning decision making-underpinned by knowledge and confidence; and (3) Challenges in re-establishing identity - impacted by ongoing concerns. CONCLUSION: As dementia progresses carers of person living with dementia consistently reported gaps in knowledge including how to access support. Specifically, this study identified the need for more to be done to help carers to develop the skills needed for their role, including participation in care planning and identifying care preferences for the future. Nurses can play a key role in promoting referral to services that support carers. Findings offer practical solutions to ameliorate carer stress and promote shared decision making. REPORTING METHOD: This research was guided by the Consolidated Criteria for Reporting Qualitative Research.
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BACKGROUND: The uptake of the health assessment for persons aged 75 years and older (75 + HA) remains low. Repeat assessments provide an opportunity to identify areas of change in cognitive function which may mark the onset of dementia. We aimed to explore general practitioner (GP) and practice nurse experiences of implementing the 75 + HA with a focus on clinical considerations for dementia care. METHODS: An interpretative qualitative study involving interviews with 15 GPs (female = 11, male = 4) and 5 practice nurses (all female). Data were analysed using an inductive thematic approach. RESULTS: The majority of GPs (n = 11) worked in metropolitan settings and four GPs worked in regional settings across NSW. All participants worked in separate clinics, except for two GPs and one practice nurse who worked within the same metropolitan clinic. Distinct themes emerged regarding participants experiences of implementing the 75 + HA for patients with dementia: (1) negotiating aged care is complex and facilitated by a comprehensive assessment; (2) implementing work practices that support the 75 + HA in patients with cognitive decline; and (3) variations in follow up of findings and implications for care. DISCUSSION: The 75 + HA provides an opportunity for monitoring and acting on emergent physical and cognitive health changes. Increased engagement and support towards implementing the 75 + HA, particularly in the context of dementia, may facilitate the instigation of interventions. While some participants in this study were confident with identifying and managing cognitive decline, the majority relied on geriatricians to confirm dementia diagnosis and refer to community support services. We suggest the need for greater initiatives and clinical guidelines to assist GPs in the identification and management of cognitive decline. IMPLICATIONS FOR THE PROFESSION: From a nursing perspective, this study highlights the valuable role of nurses towards assessment and management of issues raised in the health assessment for persons aged 75 years and older. However, more resources are needed to enable nurse time for adequate follow-up care.
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In-depth understanding of dementia carer experience can assist clinicians by providing insight into dementia onset, symptoms and management, and help conceptualize and understand the pattern of dementia progress over time and what help is needed. We undertook a qualitative study to understand dementia carers experiences of providing care and reasons for admission to a residential aged care facility (RACF). Three themes were identified: (1) Challenges in the path to diagnosis and care, leading to delays accessing support; (2) Carer role impacted by living circumstances; and (3) Variation in decision support prior to admission to a RACF. Identifying dementia carer experiences, reinforces the need for more timely diagnosis, referral for support and interventions to promote better quality of life for a people living with dementia and their carer and to delay premature RACF placement.
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Global measles cases are on the rise following disruptions to routine immunisation programs during the COVID-19 pandemic, with devastating consequences. According to the World Health Organization, the behavioural and social drivers of vaccination include what people think and feel about vaccines, social processes, motivation to vaccinate and practical barriers to vaccination. However, the drivers of measles vaccine uptake are not necessarily the same as those for other childhood vaccines, and we lack data on how these drivers specifically have changed during and since the COVID-19 pandemic. Without accurately measuring the behavioural and social drivers for measles vaccination, and ideally measuring them serially over time, countries cannot design, target and implement interventions that effectively increase and sustain measles vaccine coverage. This paper outlines what is and is not known about the behavioural and social drivers of measles vaccination and provides recommendations for improving their post-pandemic assessment.
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Positive outcomes from undergraduate research experiences (UREs) have resulted in calls to broaden and diversify participation in research. However, we have little understanding of what demographics are reported and considered in the analyses of student outcomes from UREs. Without this information, it is impossible to assess whether participation in UREs has been diversified and how outcomes may vary by participant identity. Through a comprehensive literature search, we systematically identified 147 peer-reviewed research articles on student participation in UREs in the natural sciences, published between 2014 and 2020. We coded each paper to document which student demographic variables are reported and considered in analyses. The majority (88%) of articles on UREs reported at least one demographic variable and 62% incorporate demographics into their analyses, but demographics beyond gender and race/ethnicity were infrequently considered. Articles on independent research apprenticeships included demographics in their analyses more frequently than studies on course-based undergraduate research experiences (CUREs). Trends in reporting and analyzing demographics did not change from 2014 to 2020. Future efforts to collect these data will help assess whether goals to diversify UREs are being met and inform how to design UREs to meet the needs of diverse student groups.
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Disciplinas das Ciências Naturais , Pesquisa , Estudantes , Humanos , Disciplinas das Ciências Naturais/educação , Universidades , DemografiaRESUMO
A mouse plague occurred in Eastern Australia from spring 2020 to winter 2021, impacting an area of around 180,000 km2. It harmed human physical and psychological health, damaged the natural and built environment, and endangered farmed, domestic and native animals. However, the mouse plague was overshadowed by the COVID-19 pandemic, especially as the end of the plague coincided with the arrival and surge of the COVID-19 delta strain in rural New South Wales (NSW). In this article, we systematically overview the multiple impacts of the plague and highlight their complex interactions. Using a One Health framework, we comprehensively review the i) human, ii) animal and iii) environmental impacts including economic dimensions. Given the damage that the mouse plague caused to infrastructure, we consider the environment from two perspectives: the natural and the built environment. This One Health description of the 2020-2021 mouse plague identifies priorities for preparedness, response and recovery at local, regional land levels to inform response and management of future mouse plague events in Australia. It also highlights the need for ongoing collaboration between researchers and practitioners in the human, animal and environmental health sectors.
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BACKGROUND: Allogeneic hematopoietic stem cell transplant (alloHSCT) is a mainstay of treatment for hematologic malignancies such as acute leukemias and aggressive lymphomas. Historically, fresh hematopoietic progenitor cell (HPC) products have been preferred to cryopreserved products (cryo-HPC) due to concerns of loss of stem cell viability and number with the cryopreservation procedure. OBJECTIVE: We aimed to analyze the outcomes of patients who received cryo-HPCs during the COVID-19 pandemic and compare this against historical cohorts that received fresh HPC. STUDY DESIGN: A retrospective chart review was conducted on all adult patients who received a peripheral blood alloHSCT in British Columbia, Canada between June 2017 and November 2021. Baseline characteristics, Kaplan-Meier (KM) overall survival (OS), engraftment, and incidences of acute and chronic graft versus host disease were compared between patients who received cryo-HPCs and fresh HPCs. Univariable analysis followed by multivariable analysis was performed using a backward stepwise selection procedure to generate predictors of OS, cumulative incidence of relapse (CIR), nonrelapse mortality (NRM), and primary and secondary graft failure. RESULTS: Three hundred eighty-three patients were included in the analysis, with cryo-HPC representing 40%. Median viability was higher in the fresh-HPC group at 99.2% (IQR 98.3-99.5) versus cryo-HPCs at 97.0% (96.0, 98.6) (P < 0.01). The 12-month actuarial survivals were 77% in the fresh HPC and 75% in the cryo-HPC groups (P = 0.21). There were no differences between cryo-HPCs and fresh HPCs on univariable analysis of OS, CIR, or NRM. There was a shorter median time to platelet engraftment in patients receiving fresh HPC at 17 days (IQR 16, 20) versus cryo-HPC at 21 days (IQR 18, 29), P < 0.001. There was a shorter median time to neutrophil engraftment in the fresh HPC group at 17 days (IQR 14, 20) versus 20 days (17, 23), P < 0.001. Cryo-HPC accounted for 5 out of 6 cases of primary graft failure (P = 0.04), and 3 out of five cases of secondary graft failure (P = 0.39). There were no significant differences in acute GVHD between the fresh HPC and cryo-HPC groups (P = 0.34). The incidence of moderate or severe chronic GVHD was 32% in the fresh-HPC group and 17% in the cryo-HPC group (P < 0.001). In multivariable analysis, cryopreservation did not emerge as an independent predictor of OS, CIR, NRM, primary GF or secondary GF. However, viability <90% on arrival at our center was a significant predictor of OS (HR 5.3, 2.3-12.3, P < 0.01), primary graft failure (OR 36.3, 5.4-210.2, P < 0.01), and secondary graft failure (OR 18.4, 1.7-121.1, P < 0.01). CONCLUSIONS: Patients who received cryo-HPCs had similar OS and relapse rates to those who received fresh-HPCs but typically took 2-3 days longer to achieve engraftment of platelets or neutrophils and were associated increased primary graft failure. However, after accounting for multiple variables, cryopreservation was no longer a significant predictor of survival or engraftment while viability <90% emerged as an important predictor of OS, primary graft failure, and secondary graft failure. If confirmed, this suggests that viability on arrival at the infusion center may be a good quality control indicator used to identify HPC products that may warrant recollection if the risk of graft failure is sufficiently increased.
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OBJECTIVE: Hospitalisation due to medication-related problems is a major health concern, particularly for those with pre-existing, or those at high risk of developing cardiovascular disease (CVD). Postdischarge medication reviews (PDMRs) may form a core component of reducing hospital readmissions due to medication-related problems. This study aimed to explore postdischarge CVD patients' perspectives of, and experiences with, pharmacist-led medication management services. A secondary aim explored attitudes towards the availability of PDMRs. DESIGN: An interpretative qualitative study involving 16 semistructured interviews. Data were analysed using an inductive thematic approach. SETTING: Patients with CVD discharged to a community setting from the John Hunter Hospital, an 820-bed tertiary referral hospital based in New South Wales, Australia. PARTICIPANTS: Patients with pre-existing or newly diagnosed CVD who were recently discharged from the hospital. RESULTS: A total of 16 interviews were conducted to reach thematic saturation. Nine participants (56%) were male. The mean age of participants was 57.5 (±13.2) years. Three emergent themes were identified: (1) poor medication understanding impacts transition from the hospital to home; (2) factors influencing medication concordance following discharge and (3) perceived benefits of routine PDMRs. CONCLUSIONS: There is a clear need to further improve the quality use of medicines and health literacy of transition-of-care patients with CVD. Our findings indicate that the engagement of transition-of-care patients with CVD with pharmacist-led medication management services is minimal. Pharmacists are suitable to provide essential and tailored medication review services to patients with CVD as part of a multidisciplinary healthcare team. The implementation of routine, pharmacist-led PDMRs may be a feasible means of providing patients with access to health education following their transition from hospital back to community, improving their health literacy and reducing rehospitalisations due to medication-related issues.
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Doenças Cardiovasculares , Alta do Paciente , Farmacêuticos , Pesquisa Qualitativa , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Doenças Cardiovasculares/tratamento farmacológico , Idoso , New South Wales , Conduta do Tratamento Medicamentoso/organização & administração , Adulto , Entrevistas como Assunto , Papel Profissional , Adesão à MedicaçãoRESUMO
The invasive brown widow spider, Latrodectus geometricus (Araneae: Theridiidae), has spread in multiple locations around the world and, along with it, brought associated organisms such as endosymbionts. We investigated endosymbiont diversity and prevalence across putative native and invasive populations of this spider, predicting lower endosymbiont diversity across the invasive range compared to the native range. First, we characterized the microbial community in the putative native (South Africa) and invasive (Israel and the United States) ranges via high throughput 16S sequencing of 103 adult females. All specimens were dominated by reads from only 1-3 amplicon sequence variants (ASV), and most individuals were infected with an apparently uniform strain of Rhabdochlamydia. We also found Rhabdochlamydia in spider eggs, indicating that it is a maternally-inherited endosymbiont. Relatively few other ASV were detected, but included two variant Rhabdochlamydia strains and several Wolbachia, Spiroplasma and Enterobacteriaceae strains. We then diagnostically screened 118 adult female spiders from native and invasive populations specifically for Rhabdochlamydia and Wolbachia. We found Rhabdochlamydia in 86% of individuals and represented in all populations, which suggests that it is a consistent and potentially important associate of L. geometricus. Wolbachia was found at lower overall prevalence (14%) and was represented in all countries, but not all populations. In addition, we found evidence for geographic variation in endosymbiont prevalence: spiders from Israel were more likely to carry Rhabdochlamydia than those from the US and South Africa, and Wolbachia was geographically clustered in both Israel and South Africa. Characterizing endosymbiont prevalence and diversity is a first step in understanding their function inside the host and may shed light on the process of spread and population variability in cosmopolitan invasive species.
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Animais Peçonhentos , Chlamydiales , Aranhas , Wolbachia , Humanos , Adulto , Animais , Feminino , OvosRESUMO
Growing evidence highlights the negative impact of managing the COVID-19 pandemic on the wellbeing of the healthcare workforce, including in the aged care sector. We undertook a qualitative study during the pandemic's third year to explore the psychosocial impacts on nine managers of residential care facilities (RCFs) across metropolitan and rural New South Wales, the largest state in Australia. Four themes were identified: (1) Increased pressure on maintaining aged care services, (2) Increased responsibility on RCF managers, (3) Psychosocial impacts due to accumulating pressures, and (4) Experience of beneficial supports. COVID-19 compounded pre-pandemic sector challenges and added new stressors. While resilient and resourceful, RCF managers experienced workplace stress and burnout, which may affect quality of resident care and impact on staff retention. There is a need for more investment to effectively support staff, and research to identify optimal psychosocial and management supports.
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This is a consensus-based Canadian guideline whose primary purpose is to standardize and facilitate the management of chronic graft-versus-host disease (cGvHD) across the country. Creating uniform healthcare guidance in Canada is a challenge for a number of reasons including the differences in healthcare authority structure, funding and access to healthcare resources between provinces and territories, as well as the geographic size. These differences can lead to variable and unequal access to effective therapies for GvHD. This document will provide comprehensive and practical guidance that can be applied across Canada by healthcare professionals caring for patients with cGvHD. Hopefully, this guideline, based on input from GvHD treaters across the country, will aid in standardizing cGvHD care and facilitate access to much-needed novel therapies. This consensus paper aims to discuss the optimal approach to the initial assessment of cGvHD, review the severity scoring and global grading system, discuss systemic and topical treatments, as well as supportive therapies, and propose a therapeutic algorithm for frontline and subsequent lines of cGvHD treatment in adults and pediatric patients. Finally, we will make suggestions about the future direction of cGvHD treatment development such as (1) a mode-of-action-based cGvHD drug selection, according to the pathogenesis of cGvHD, (2) a combination strategy with the introduction of newer targeted drugs, (3) a steroid-free regimen, particularly for front line therapy for cGvHD treatment, and (4) a pre-emptive approach which can prevent the progression of cGvHD in high-risk patients destined to develop severe and highly morbid forms of cGvHD.
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Síndrome de Bronquiolite Obliterante , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Adulto , Humanos , Criança , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Consenso , Doença Enxerto-Hospedeiro/tratamento farmacológico , Doença Enxerto-Hospedeiro/etiologia , Doença Enxerto-Hospedeiro/patologia , Doença Crônica , CanadáRESUMO
Acute graft versus host disease (aGVHD) is a complication of allogeneic hematopoietic stem cell transplant (HCT) and is associated with significant morbidity and mortality. Steroid refractory aGVHD (SR-aGVHD) carries a particularly grim prognosis. Ruxolitinib has shown promise for treatment of SR-aGVHD in a phase 3 trial; however, safety and efficacy data outside of the clinical trial setting is lacking. We performed a multicenter retrospective study to examine the response to ruxolitinib and its efficacy in patients with SR-aGVHD. We included 59 patients treated with ruxolitinib for SR-aGVHD between 2015 and 2022. Of these 59 patients, 36 patients (61.0%) achieved a complete (CR) or partial response (PR) at 28 days, while 31 patients (52.5%) obtained a CR/PR at day 56. Patients that achieved a CR or PR at day 28 had a higher rate of overall survival (OS; 69.2%), compared with patients that did not (31.6%; p = 0.037). OS at 12 months was 41.5%, with a median OS duration of 5.3 months. Failure free survival (FFS) at 12 months was 29.1%, with a median FFS of 2.6 months. Overall, this real-world experience data support ruxolitinib as the standard of care for SR-aGVHD in a non-controlled trial population.
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Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Nitrilas , Pirazóis , Pirimidinas , Humanos , Nitrilas/uso terapêutico , Doença Enxerto-Hospedeiro/tratamento farmacológico , Pirazóis/uso terapêutico , Pirimidinas/uso terapêutico , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Estudos Retrospectivos , Transplante de Células-Tronco Hematopoéticas/métodos , Idoso , Doença Aguda , Esteroides/uso terapêutico , Adolescente , Adulto Jovem , Taxa de SobrevidaRESUMO
Candida krusei disseminated infection is a rare complication of protracted neutropenia. Herein, we report a case of a 31-year-old male with relapsed acute myeloid leukemia who developed Candida krusei fungemia with cutaneous, ocular, splenic, renal, bone marrow and osseous involvement leading to severe hypercalcemia, treated with parenteral antifungals followed by oral ibrexafungerp.
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Candidíase , Fungemia , Hipercalcemia , Pichia , Masculino , Humanos , Adulto , Hipercalcemia/complicações , Hipercalcemia/tratamento farmacológico , Candidíase/complicações , Candidíase/diagnóstico , Candidíase/tratamento farmacológico , Antifúngicos/uso terapêuticoRESUMO
All vitamins play essential roles in various aspects of body function and systems. Patients with chronic kidney disease (CKD), including those receiving dialysis, may be at increased risk of developing vitamin deficiencies due to anorexia, poor dietary intake, protein energy wasting, restricted diet, dialysis loss, or inadequate sun exposure for vitamin D. However, clinical manifestations of most vitamin deficiencies are usually subtle or undetected in this population. Testing for circulating levels is not undertaken for most vitamins except folate, B12, and 25-hydroxyvitamin D because assays may not be available or may be costly to perform and do not always correlate with body stores. The last systematic review through 2016 was performed for the Kidney Disease Outcome Quality Initiative (KDOQI) 2020 Nutrition Guideline update, so this article summarizes the more recent evidence. We review the use of vitamins supplementation in the CKD population. To date there have been no randomized trials to support the benefits of any vitamin supplementation for kidney, cardiovascular, or patient-centered outcomes. The decision to supplement water-soluble vitamins should be individualized, taking account the patient's dietary intake, nutritional status, risk of vitamins deficiency/insufficiency, CKD stage, comorbid status, and dialysis loss. Nutritional vitamin D deficiency should be corrected, but the supplementation dose and formulation need to be personalized, taking into consideration the degree of 25-hydroxyvitamin D deficiency, parathyroid hormone levels, CKD stage, and local formulation. Routine supplementation of vitamins A and E is not supported due to potential toxicity. Although more trial data are required to elucidate the roles of vitamin supplementation, all patients with CKD should undergo periodic assessment of dietary intake and aim to receive various vitamins through natural food sources and a healthy eating pattern that includes vitamin-dense foods.
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Deficiência de Vitaminas , Insuficiência Renal Crônica , Deficiência de Vitamina D , Humanos , Vitaminas/uso terapêutico , Vitamina D , Suplementos Nutricionais , Insuficiência Renal Crônica/complicações , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/etiologia , Vitamina A , Deficiência de Vitaminas/epidemiologia , Deficiência de Vitaminas/complicações , Vitamina KRESUMO
Chronic graft-versus-host disease (GvHD) treatment response is assessed using National Institutes of Health (NIH) Consensus Criteria in clinical trials, and by clinician assessment in routine practice. Patient-reported treatment response is central to the experience of chronic GvHD manifestations as well as treatment benefit and toxicity, but how they correlate with clinician- or NIH-responses has not been well-studied. We aimed to characterize 6-month patientreported response, determine associated chronic GvHD baseline organ features and changes, and evaluate which patientreported quality of life and chronic GvHD symptom burden measures correlated with patient-reported response. From two nationally representative Chronic GVHD Consortium prospective observational studies, 382 subjects were included in this analysis. Patient and clinician responses were categorized as improved (completely gone, very much better, moderately better, a little better) versus not improved (about the same, a little worse, moderately worse, very much worse). At six months, 270 (71%) patients perceived chronic GvHD improvement, while 112 (29%) perceived no improvement. Patient-reported response had limited correlation with either clinician-reported (kappa 0.37) or NIH chronic GvHD response criteria (kappa 0.18). Notably, patient-reported response at six months was significantly associated with subsequent failure-free survival. In multivariate analysis, NIH responses in eye, mouth, and lung had significant association with 6-month patient-reported response, as well as a change in Short Form 36 general health and role physical domains and Lee Symptom Score skin and eye changes. Based on these findings, patient-reported responses should be considered as an important complementary endpoint in chronic GvHD clinical trials and drug development.
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Síndrome de Bronquiolite Obliterante , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Humanos , Qualidade de Vida , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Doença Enxerto-Hospedeiro/diagnóstico , Doença Enxerto-Hospedeiro/etiologia , Doença Enxerto-Hospedeiro/terapia , Doença Crônica , Medidas de Resultados Relatados pelo PacienteRESUMO
The modifiable areal unit problem (MAUP) is a cause of statistical and visual bias when aggregating data according to spatial units, particularly when spatial units may be changed arbitrarily. The MAUP is a concern in vector-borne disease research when entomological metrics gathered from point-level sampling data are related to epidemiological data aggregated to administrative units like counties or ZIP Codes. Here, we assess the statistical impact of the MAUP when calculating correlations between randomly aggregated cases of anaplasmosis in New York State during 2017 and a geostatistical layer of an entomological risk index for Anaplasma phagocytophilum in blacklegged ticks (Ixodes scapularis Say, Acari: Ixodidae) collected during the fall of 2017. Correlations were also calculated using various administrative boundaries for comparison. We also demonstrate the impact of the MAUP on data visualization using choropleth maps and offer pycnophylactic interpolation as an alternative. Polygon simulations indicate that increasing the number of polygons decreases correlation coefficients and their variability. Correlation coefficients calculated using ZIP Code tabulation area and Census tract polygons were beyond 4 standard deviations from the mean of the simulated correlation coefficients. These results indicate that using smaller polygons may not best incorporate the geographical context of the tick-borne disease system, despite the tendency of researchers to strive for more granular spatial data and associations.
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Anaplasma phagocytophilum , Anaplasmose , Ixodes , Doenças Transmitidas por Carrapatos , Animais , New YorkRESUMO
Jamestown Canyon virus (JCV) (Peribunyavirdae; Orthobunyavirus) is a mosquito-borne pathogen endemic to North America. The genome is composed of three segmented negative-sense RNA fragments designated as small, medium, and large. Jamestown Canyon virus is an emerging threat to public health, and infection in humans can cause severe neurological diseases, including encephalitis and meningitis. We report JCV mosquito surveillance data from 2001 to 2022 in New York state. Jamestown Canyon virus was detected in 12 mosquito species, with the greatest prevalence in Aedes canadensis and Anopheles punctipennis. Detection fluctuated annually, with the highest levels recorded in 2020. Overall, JCV infection rates were significantly greater from 2012 to 2022 compared with 2001 to 2011. Full-genome sequencing and phylogenetic analysis were also performed with representative JCV isolates collected from 2003 to 2022. These data demonstrated the circulation of numerous genetic variants, broad geographic separation, and the first identification of lineage B JCV in New York state in 2022.
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Anopheles , Vírus da Encefalite da Califórnia , Encefalite da Califórnia , Animais , Humanos , Vírus da Encefalite da Califórnia/genética , New York/epidemiologia , FilogeniaRESUMO
BACKGROUND: The Avoidant Restrictive Food Intake Disorder - Genes and Environment (ARFID-GEN) study is a study of genetic and environmental factors that contribute to risk for developing ARFID in children and adults. METHODS: A total of 3,000 children and adults with ARFID from the United States will be included. Parents/guardians and their children with ARFID (ages 7 to 17) and adults with ARFID (ages 18 +) will complete comprehensive online consent, parent verification of child assent (when applicable), and phenotyping. Enrolled participants with ARFID will submit a saliva sample for genotyping. A genome-wide association study of ARFID will be conducted. DISCUSSION: ARFID-GEN, a large-scale genetic study of ARFID, is designed to rapidly advance the study of the genetics of eating disorders. We will explicate the genetic architecture of ARFID relative to other eating disorders and to other psychiatric, neurodevelopmental, and metabolic disorders and traits. Our goal is for ARFID to deliver "actionable" findings that can be transformed into clinically meaningful insights. TRIAL REGISTRATION: ARFID-GEN is a registered clinical trial: clinicaltrials.gov NCT05605067.
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Transtorno Alimentar Restritivo Evitativo , Transtornos da Alimentação e da Ingestão de Alimentos , Adulto , Criança , Humanos , Estudo de Associação Genômica Ampla , Motivação , Estudos RetrospectivosRESUMO
Allogeneic hematopoietic stem cell transplant (aHSCT) patients are well known to be at high risk of vitamin D (vit D) deficiency. This study assessed whether a loading dose (100,000 IU) of vitamin D3 pre-aHSCT could effectively achieve and maintain sufficient post-transplant vit D levels (serum total 25 hydroxy vitamin D (25(OH)D) ≥ 75nmol/L). Dual-energy X-ray absorptiometry (DXA) was also conducted for bone health evaluation. 74 patients were enrolled and randomly assigned, in a 1:1 ratio, either to the high vit D group (single loading dose (100,000 IU) plus 2,000 IU vit D3 daily) or the control group (2,000 IU vit D3 daily). Vit D levels were measured at three time points (baseline, day 30 and day 100 post-aHSCT). At baseline, fewer than 50% patients had a sufficient 25(OH)D (control: 42.9%; high vit D: 43.6%). The proportion of patients with sufficient 25(OH)D (nmol/L) was increased at day 30 and day 100, with a trend of higher proportion in the high vit D group at day 30 (high vit D vs. control: 89.7% vs. 74.3%, p = 0.08). The increased 25(OH)D was significantly higher in the high vit D group at day 30 (high vit D vs. control: 29±25.2 vs. 14 ±21.9, p = 0.01). Insufficient vit D level before transplant (baseline) was an independent risk factor for vit D insufficiency (serum 25(OH)D < 75nmol/L) post-aHSCT (OR = 4.16, p = 0.03). DXA suggested significant bone loss for total hip in both groups, and in the femoral neck for the control group only. In conclusion, single loading dose vitamin D3 significantly increased total 25(OH)D levels at day 30 post-transplant, and the intervention was especially beneficial for patients with baseline vit D insufficiency. We acknowledge that the primary outcome at day 100 post-aHSCT indicating superiority of loading dose versus daily dose supplementation was not met.