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1.
Artículo en Inglés | MEDLINE | ID: mdl-38929036

RESUMEN

The WHO Dementia Global Action Plan states that rehabilitation services for dementia are required to promote health, reduce disability, and maintain quality of life for those living with dementia. Current services, however, are scarce, particularly for people with young-onset dementia (YOD). This article, written by an international group of multidisciplinary dementia specialists, offers a three-part overview to promote the development of rehabilitation services for YOD. Firstly, we provide a synthesis of knowledge on current evidence-based rehabilitative therapies for early-onset Alzheimer's disease (EOAD), behavioural variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), and posterior cortical atrophy (PCA). Secondly, we discuss the characteristics of rehabilitation services for YOD, providing examples across three continents for how these services can be embedded in existing settings and the different roles of the rehabilitation multidisciplinary team. Lastly, we conclude by highlighting the potential of telehealth in making rehabilitation services more accessible for people with YOD. Overall, with this paper, we aim to encourage clinical leads to begin introducing at least some rehabilitation into their services, leveraging existing resources and finding support in the collective expertise of the broader multidisciplinary dementia professional community.


Asunto(s)
Demencia , Humanos , Demencia/rehabilitación , Demencia/terapia , Edad de Inicio , Países en Desarrollo , Países Desarrollados , Telemedicina
2.
Implement Sci Commun ; 5(1): 50, 2024 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-38702751

RESUMEN

BACKGROUND: Patient navigation is an individualized intervention to facilitate comprehensive care which has not yet been fully implemented in obstetric or postpartum care. METHODS: We aimed to develop and evaluate a mechanism to incorporate feedback regarding implementation of postpartum patient navigation for low-income birthing individuals at an urban academic medical center. This study analyzed the role of an Implementation Advisory Board (IAB) in supporting an ongoing randomized trial of postpartum navigation. Over the first 24 months of the trial, the IAB included 11 rotating obstetricians, one clinic resource coordinator, one administrative leader, two obstetric nurses, one primary care physician, one social worker, and one medical assistant. Members completed serial surveys regarding program implementation, effects on patient care, and areas for improvement. Quarterly IAB meetings offered opportunities for additional feedback. Survey responses and meeting notes were analyzed using the constant comparative method and further interpreted within the Exploration, Preparation, Implementation, Sustainment (EPIS) Framework. RESULTS: Members of the IAB returned 37 surveys and participated in five meetings over 24 months. Survey analysis revealed four themes among the inner context: reduced clinician burden, connection of care teams, communication strategies, and clinic workflow. Bridging factors included improved patient access to care, improved follow-up, and adding social context to care. Innovation factors included availability of navigators, importance of consistent communication, and adaptation over time. Meeting notes highlighted the importance of bidirectional feedback regarding implementation, and members expressed positive opinions regarding navigators' effects on patient care, integration into clinic workflow, and responsiveness to feedback. IAB members initially suggested changes to improve implementation; later survey responses demonstrated successful program adaptations. CONCLUSIONS: Members of an implementation advisory board provided key insights into the implementation of postpartum patient navigation that may be useful to promote dissemination of navigation and establish avenues for the engagement of implementing partners in other innovations. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03922334 . Registered April 19, 2019. The results here do not present the results of the primary trial, which is ongoing.

3.
J Mol Biol ; : 168631, 2024 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-38821350

RESUMEN

Mitophagy is a specific type of autophagy responsible for the selective elimination of dysfunctional or superfluous mitochondria, ensuring the maintenance of mitochondrial quality control. The initiation of mitophagy is coordinated by the ULK1 kinase complex, which engages mitophagy receptors via its FIP200 subunit. Whether FIP200 performs additional functions in the subsequent later phases of mitophagy beyond this initial step and how its regulation occurs, remains unclear. Our findings reveal that multiple phosphorylation events on FIP200 differentially control the early and late stages of mitophagy. Furthermore, these phosphorylation events influence FIP200's interaction with ATG16L1. In summary, our results highlight the necessity for precise and dynamic regulation of FIP200, underscoring its importance in the progression of mitophagy.

4.
Nat Commun ; 15(1): 3059, 2024 Apr 18.
Artículo en Inglés | MEDLINE | ID: mdl-38637500

RESUMEN

The 2023 monkeypox (mpox) epidemic was caused by a subclade IIb descendant of a monkeypox virus (MPXV) lineage traced back to Nigeria in 1971. Person-to-person transmission appears higher than for clade I or subclade IIa MPXV, possibly caused by genomic changes in subclade IIb MPXV. Key genomic changes could occur in the genome's low-complexity regions (LCRs), which are challenging to sequence and are often dismissed as uninformative. Here, using a combination of highly sensitive techniques, we determine a high-quality MPXV genome sequence of a representative of the current epidemic with LCRs resolved at unprecedented accuracy. This reveals significant variation in short tandem repeats within LCRs. We demonstrate that LCR entropy in the MPXV genome is significantly higher than that of single-nucleotide polymorphisms (SNPs) and that LCRs are not randomly distributed. In silico analyses indicate that expression, translation, stability, or function of MPXV orthologous poxvirus genes (OPGs), including OPG153, OPG204, and OPG208, could be affected in a manner consistent with the established "genomic accordion" evolutionary strategies of orthopoxviruses. We posit that genomic studies focusing on phenotypic MPXV differences should consider LCR variability.


Asunto(s)
Mpox , Orthopoxvirus , Poxviridae , Humanos , Monkeypox virus/genética , Genómica , Mpox/genética
5.
Health Equity ; 8(1): 132-137, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38435025

RESUMEN

Background: The current approach to increasing diversity in medical education fails to consider local community demographics when determining medical school matriculation. Purpose: We propose that medical schools better reflect their surrounding community, both because racially/ethnically concordant physicians have been shown to provide better care and to repair the historical and current racist impacts of these institutions that have criminalized, displaced, and excluded local Black and Brown communities. Methods and Results: In this study, we used geospatial analysis to determine that medical school enrollments generally fail to reflect their surrounding community, represented as their core-based statistical area, within which the individual medical schools reside.

6.
Health Sci Rep ; 7(3): e1965, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38524774

RESUMEN

Background and Aim: Until the May 2022 Monkeypox (MPXV) outbreak, which spread rapidly to many non-endemic countries, the virus was considered a viral zoonosis limited to some African countries. The Andalusian circuit of genomic surveillance was rapidly applied to characterize the MPXV outbreak in the South of Spain. Methods: Whole genome sequencing was used to obtain the genomic profiles of samples collected across the south of Spain, representative of all the provinces of Andalusia. Phylogenetic analysis was used to study the relationship of the isolates and the available sequences of the 2022 outbreak. Results: Whole genome sequencing of a total of 160 MPXV viruses from the different provinces that reported cases were obtained. Interestingly, we report the sequences of MPXV viruses obtained from two patients who died. While one of the isolates bore no noteworthy mutations that explain a potential heightened virulence, in another patient the second consecutive genome sequence, performed after the administration of tecovirimat, uncovered a mutation within the A0A7H0DN30 gene, known to be a prime target for tecovirimat in its Vaccinia counterpart. In general, a low number of mutations were observed in the sequences reported, which were very similar to the reference of the 2022 outbreak (OX044336), as expected from a DNA virus. The samples likely correspond to several introductions of the circulating MPXV viruses from the last outbreak. The virus sequenced from one of the two patients that died presented a mutation in a gene that bears potential connections to drug resistance. This mutation was absent in the initial sequencing before treatment.

7.
Nutr. clín. diet. hosp ; 44(1): 303-309, Feb. 2024. tab
Artículo en Inglés | IBECS | ID: ibc-231299

RESUMEN

Introduction: Depression is related with poor musclestrength, and deficiencies of microelements such as Zinc (Zn).Otherwise, Zn is related with muscle strength, but there is noevidence of the relations between muscle strength and Znlevels in depression. Objective: To determine the association between serum Zn levels, handgrip muscle strength, and depression. Methods: An observational, analytical case-control study. 102 depressive patients hospitalized at the San Juan de DiosClinic in Manizales, and 36 controls with no personal historyof mental illness were evaluated for depression severity,serum Zn levels, and handgrip muscle strength. The groupswere matched by sex, age, educational level, and socioeco-nomic stratum. The severity of depression was assessed us-ing the Montgomery–Asberg Rating Scale (MADRS). Serum Znlevels were determined, and handgrip muscle strength wasassessed using dynamometer. Descriptive analysis, logistic reression and linear models were performed with depressionand severity of depression as dependent variables. Results: Lower Zn levels and reduced handgrip musclestrength were related to the presence of depression with thelogistic model. Lower handgrip muscle strength and severityof depression were associated with the linear model. Conclusion: An association was found between depressionand low Zn levels, and an inverse association between severityof depression and handgrip muscle strength. Future studiesshould investigate causality, and to evaluate the relationshipbetween depression, muscle strength and nutritional status.(AU)


Introducción: La depresión se encuentra relacionada con una disminución de la fuerza muscular y deficiencia de microelementos como el Zinc (Zn). De otra parte, el Zn está relacionado con la fuerza muscular, sin embargo, no hay evidencia si existe una asociación entre fuerza muscular y Zn en depresión. Objetivo: Determinar la asociación entre niveles séricos de Zn, fuerza muscular y depresión. Metodología: Se realizó un estudio observacional, analítico de casos y controles. Participaron 102 pacientes hospitalizados en la Clínica San Juan de Dios de Manizales y 36 controles sin historia personal de enfermedad mental. Fueron evaluados la severidad de la depresión, los niveles séricos de Zn y la fuerza de agarre manual. Los grupos fueron pareados por edad, sexo, escolaridad y estrato socioeconómico. La severidad de la depresión se evaluó con la escala de depresión Montgomery-Asberg (MADRS), se determinaron niveles séricos de Zn y la fuerza muscular fue evaluada con por dinamometría. Se realizo un análisis descriptivo, y modelos de regresión logística y regresión lineal con depresión y severidad de la depresión como variables dependientes.Resultados: El modelo de regresión logística encontró una asociación entre los niveles bajos de Zn y la fuerza muscular con la presencia de depresión. El modelo de regresión lineal encontró una relación entre menor fuerza de agarre y severidad de la depresión.Conclusión: Existe una asociación entre depresión y niveles bajos de Zn, y una relación inversamente proporcional entre severidad de la depresión y menor fuerza muscular. Estudios en el futuro deben investigar relaciones de causalidad y evaluar la relación entre depresión, fuerza muscular y estado nutricional.(AU)


Asunto(s)
Humanos , Masculino , Femenino , Fuerza Muscular , Zinc/administración & dosificación , Trastorno Depresivo Mayor , Depresión , Recolección de Muestras de Sangre , Estudios de Casos y Controles , Colombia
8.
Environ Sci Pollut Res Int ; 31(13): 20461-20476, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38376785

RESUMEN

In the last few decades, there has been a growing interest in understanding the behavior of personal care products (PCPs) in the aquatic environment. In this regard, the aim of this study is to estimate the accumulation and effects of four PCPs within the clam Ruditapes philippinarum. The PCPs selected were triclosan, OTNE, benzophenone-3, and octocrylene. A progressive uptake was observed and maximum concentrations in tissues were reached at the end of the exposure phase, up to levels of 0.68 µg g-1, 24 µg g-1, 0.81 µg g-1, and 1.52 µg g-1 for OTNE, BP-3, OC, and TCS, respectively. After the PCP post-exposure period, the removal percentages were higher than 65%. The estimated logarithm bioconcentration factor ranged from 3.34 to 2.93, in concordance with the lipophobicity of each substance. No lethal effects were found although significant changes were observed for ethoxyresorufin O-demethylase activity, glutathione S-transferase activity, lipid peroxidation, and DNA damage.


Asunto(s)
Bivalvos , Cosméticos , Contaminantes Químicos del Agua , Animales , Peroxidación de Lípido , Daño del ADN , Alimentos Marinos , Contaminantes Químicos del Agua/análisis
9.
Artículo en Inglés | MEDLINE | ID: mdl-38265478

RESUMEN

Background: Although the postpartum period is an opportunity to address long-term health, fragmented care systems, inadequate attention to social needs, and a lack of structured transition to primary care threaten patient wellbeing, particularly for low-income individuals. Postpartum patient navigation is an emerging innovation to address these disparities. Methods: This mixed-methods analysis uses data from the first year of an ongoing randomized controlled trial to understand the needs of low-income postpartum individuals through 1 year of patient navigation. We designed standardized logs for navigators to record their services, tracking mode, content, intensity, and target of interactions. Navigators also completed semistructured interviews every 3 months regarding relationships with patients and care teams, care system gaps, and navigation process. Log data were categorized, quantified, and mapped temporally through 1 year postpartum. Qualitative data were analyzed using the constant comparative method. Results: Log data from 50 participants who received navigation revealed the most frequent needs related to health care access (45.4%), health and wellness (18.2%), patient-navigator relationship building (14.8%), parenting (13.6%), and social determinants of health (8.0%). Navigation activities included supporting physical and mental recovery, accomplishing health goals, connecting patients to primary and specialty care, preparing for health system utilization beyond navigation, and referring individuals to community resources. Participant needs fluctuated, yielding a dynamic timeline of the first postpartum year. Conclusion: Postpartum needs evolved throughout the year, requiring support from various teams. Navigation beyond the typical postpartum care window may be useful in mitigating health system barriers, and tracking patient needs may be useful in optimizing postpartum care. Clinical Trial Registration: Registered April 19, 2019, enrollment beginning January 21, 2020, NCT03922334, https://clinicaltrials.gov/ct2/show/NCT03922334.

10.
EMBO Rep ; 25(1): 168-197, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38225354

RESUMEN

Cell commitment to tumourigenesis and the onset of uncontrolled growth are critical determinants in cancer development but the early events directing tumour initiating cell (TIC) fate remain unclear. We reveal a single-cell transcriptome profile of brain TICs transitioning into tumour growth using the brain tumour (brat) neural stem cell-based Drosophila model. Prominent changes in metabolic and proteostasis-associated processes including ribogenesis are identified. Increased ribogenesis is a known cell adaptation in established tumours. Here we propose that brain TICs boost ribogenesis prior to tumour growth. In brat-deficient TICs, we show that this dramatic change is mediated by upregulated HEAT-Repeat Containing 1 (HEATR1) to promote ribosomal RNA generation, TIC enlargement and onset of overgrowth. High HEATR1 expression correlates with poor glioma patient survival and patient-derived glioblastoma stem cells rely on HEATR1 for enhanced ribogenesis and tumourigenic potential. Finally, we show that HEATR1 binds the master growth regulator MYC, promotes its nucleolar localisation and appears required for MYC-driven ribogenesis, suggesting a mechanism co-opted in ribogenesis reprogramming during early brain TIC development.


Asunto(s)
Neoplasias Encefálicas , Glioblastoma , Antígenos de Histocompatibilidad Menor , Proteínas Proto-Oncogénicas c-myc , Proteínas de Unión al ARN , Animales , Humanos , Encéfalo/metabolismo , Neoplasias Encefálicas/metabolismo , Carcinogénesis/patología , Transformación Celular Neoplásica/patología , Proteínas de Unión al ADN/metabolismo , Drosophila/genética , Drosophila/metabolismo , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Glioblastoma/metabolismo , Glioma/patología , Antígenos de Histocompatibilidad Menor/metabolismo , Células Madre Neoplásicas/metabolismo , Proteínas de Unión al ARN/metabolismo , Proteínas Proto-Oncogénicas c-myc/metabolismo
11.
Pers Soc Psychol Bull ; : 1461672231219719, 2024 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-38284645

RESUMEN

Using data from 15 countries, this article investigates whether descriptive and prescriptive gender norms concerning housework and child care (domestic work) changed after the onset of the COVID-19 pandemic. Results of a total of 8,343 participants (M = 19.95, SD = 1.68) from two comparable student samples suggest that descriptive norms about unpaid domestic work have been affected by the pandemic, with individuals seeing mothers' relative to fathers' share of housework and child care as even larger. Moderation analyses revealed that the effect of the pandemic on descriptive norms about child care decreased with countries' increasing levels of gender equality; countries with stronger gender inequality showed a larger difference between pre- and post-pandemic. This study documents a shift in descriptive norms and discusses implications for gender equality-emphasizing the importance of addressing the additional challenges that mothers face during health-related crises.

13.
Cureus ; 15(11): e48401, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38074021

RESUMEN

Objectives Stereotactic radiosurgery combined with pharmacological treatment is currently one of the most acceptable alternatives for the treatment of trigeminal neuralgia (TN). Our primary endpoint was to report the short-term response (one month) outcomes of 10 patients with refractory TN after CyberKnife® (CK) radiosurgery; secondary endpoints were to assess early side effects and complications. Methods Ten female patients with TN refractory to pharmacological and/or non-pharmacological treatment received a single dose of 90 Gy with CyberKnife® radiosurgery. Clinical and demographic characteristics were obtained from medical records. The visual analog scale (VAS) was used to assess facial pain before as well as seven, 15, and 30 days after treatment. Friedman test was performed to evaluate pain relief in treated patients. Results All patients responded well to the CK and experienced initial adequate pain relief during the first 30 days (p<0.001). No significant differences (p=0.661) were found between six patients who received CK radiosurgery as the first treatment option and those who underwent other non-pharmacological treatments. One patient was re-irradiated with 75 Gy. Transient facial paresthesia was observed in 3/10 patients without any other complications. Conclusion High-tech CK treatment is safe, non-invasive, fast, with minimal side effects, and effective in achieving short-term pain relief in patients with refractory TN, even in those with multiple previous interventions. Given these results, we recommend evaluating CK radiosurgery as the first-line treatment of choice for trigeminal neuralgia refractory to pharmacological treatment.

15.
J Clin Immunol ; 43(8): 2076-2089, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37740092

RESUMEN

Variants of uncertain significance (VUS) in CTLA4 are frequently identified in patients with antibody deficiency or immune dysregulation syndromes including, but not limited to, patients with multi-organ autoimmunity and autoinflammation. However, to ascertain the diagnosis of CTLA4 insufficiency, the functional relevance of each variant needs to be determined. Currently, various assays have been proposed to assess the functionality of CTLA4 VUS, including the analysis of transendocytosis, the biological function of CTLA4 to capture CD80 molecules from antigen presenting cells. Challenges of this assay include weak fluorescence intensity of the internalized ligand, poor reproducibility, and poor performance upon analyzing thawed cells. In addition, the distinction of pathogenic from non-pathogenic variants and from wild-type CTLA4, and the classification of the different VUS according to its level of CTLA4 dysfunction, would be desirable. We developed a novel CD80-expressing cell line for the evaluation of CD80-transendocytosis and compared it to the published transendocytosis assay. Our approach showed lower inter-assay variability and better robustness regardless the type of starting material (fresh or thawed peripheral mononuclear cells). In addition, receiver operating characteristic analysis showed 100% specificity, avoiding false positive results and allowing for a clear distinction between pathogenic and non-pathogenic variants in CTLA4-variant carriers. With our transendocytosis assay, we assessed the pathogenicity of 24 distinct CTLA4 variants from patients submitted to our diagnostic unit. Significantly impaired transendocytosis was demonstrated for 17 CTLA4 variants, whereas seven variants tested normal. In conclusion, our upgraded transendocytosis assay allows a reliable assessment of newly identified variants in CTLA4.


Asunto(s)
Células Presentadoras de Antígenos , Autoinmunidad , Humanos , Antígeno CTLA-4/genética , Citometría de Flujo , Reproducibilidad de los Resultados
16.
Int J Mol Sci ; 24(16)2023 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-37628979

RESUMEN

Marine ecosystems are among the richest in terms of biodiversity, and at present, still remain largely unknown today. In the molecular biology era, several analyses have been conducted to unravel the biological processes in this ecosystem. These systems have provided biotechnological solutions to current problems, including the treatment of diseases, as well as for the development of new biotechnological tools with applications in biomedicine and/or agri-food. In addition, in the context of climate change and global warming, these studies become even more necessary for the development of molecular tools that allow a reliable follow-up of this situation to anticipate alterations and responses of bioindicator species and to create a database to prevent and predict the environmental and climatic changes before the damage is irreversible. Proteomics approaches have revealed their potential use to obtain the set of biological effectors that lead to the real biological station on a specific stage, the proteins. In addition, proteomics-based algorithms have allowed the discovery of proteins with new potential biotechnological applications from proteome data through "applied proteomics". In this project, the first proteome analysis of the sea anemone, Anemonia sulcata, and its symbiont has been developed. These organisms present a wide distribution sea ecosystem. In Spain, it is accepted as a fishing and aquaculture species. Moreover, Anemonia sulcate has a symbiotic relation with autotroph Dinoflagellates, Symbiodinium spp., that allows the study of its relation at the molecular level. For the first characterization of A. sulcata proteome, three independent biological replicates were used, and proteins were extracted and analyzed by LC-MS/MS, allowing the quantification of 325 proteins, 81 from Symbiodinium spp. proteins and 244 from A. sulcata proteins. These proteins were subjected to gene ontology categorization by Cellular Component, Molecular Function and Biological Process. These analyzes have allowed the identification of biomarkers of gene expression as potential powerful emerging diagnostic tools to identify and characterize the molecular drivers of climate change stresses and improve monitoring techniques. In addition, through the application of novel algorithms for the detection of bioactive compounds based on the analysis of molecules of marine origin, the proteome has allowed the identification of proteins with potential applications in the fields of biomedicine and agri-food.


Asunto(s)
Dinoflagelados , Anémonas de Mar , Animales , Proteómica , Ecosistema , Cambio Climático , Proteoma , Cromatografía Liquida , Espectrometría de Masas en Tándem , Biomarcadores
17.
Environ Health Perspect ; 131(8): 85001, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37610227

RESUMEN

BACKGROUND: Increasingly, marginalized communities are disproportionately facing the worsening effects of environmental hazards, including air pollution, water pollution, and climate change. Language isolation and accessibility has been understudied as a determinant of health. Spanish, despite being the second-most common language in the United States with some 41.8 million speakers, has been neglected among environmental health scientists. Building capacity in high-quality Spanish-language science communication, both for scientific and nonscientific audiences, can yield improvements in health disparities research, public health literacy, international collaborations, and diversity and inclusion efforts. OBJECTIVES: In this article, we discuss the context of language diversity in environmental health sciences and offer recommendations for improving science communication in Spanish. DISCUSSION: English is currently the predominant language for scientific discourse, but Spanish and other non-English languages are routinely used by many environmental health science students and professionals, as well as much of the public. To more effectively conduct and communicate environmental health work in Spanish, we suggest that researchers and scientific institutions a) foster structural changes, b) train emerging scholars and support established researchers, c) tap into community ways of knowing, and d) leverage emerging technologies. https://doi.org/10.1289/EHP12306.


Asunto(s)
Contaminación del Aire , Salud Ambiental , Estados Unidos , Humanos , Comunicación , Contaminación del Agua , Justicia Social
18.
Dis Model Mech ; 16(7)2023 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-37382373

RESUMEN

The Arp2/3 complex drives the formation of branched actin networks that are essential for many cellular processes. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded by two paralogous genes (ARPC5 and ARPC5L) with 67% identity. Through whole-exome sequencing, we identified a biallelic ARPC5 frameshift variant in a female child who presented with recurrent infections, multiple congenital anomalies, diarrhea and thrombocytopenia, and suffered early demise from sepsis. Her consanguineous parents also had a previous child who died with similar clinical features. Using CRISPR/Cas9-mediated approaches, we demonstrate that loss of ARPC5 affects actin cytoskeleton organization and function in vitro. Homozygous Arpc5-/- mice do not survive past embryonic day 9 owing to developmental defects, including loss of the second pharyngeal arch, which contributes to craniofacial and heart development. Our results indicate that ARPC5 is important for both prenatal development and postnatal immune signaling, in a non-redundant manner with ARPC5L. Moreover, our observations add ARPC5 to the list of genes that should be considered when patients present with syndromic early-onset immunodeficiency, particularly if recessive inheritance is suspected.


Asunto(s)
Complejo 2-3 Proteico Relacionado con la Actina , Actinas , Humanos , Niño , Femenino , Ratones , Animales , Complejo 2-3 Proteico Relacionado con la Actina/genética , Inflamación
20.
Front Sociol ; 8: 959765, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37250439

RESUMEN

Context: Puerto Rico experienced four natural disasters in 4 years (2017-2021): Hurricanes Irma and Maria, thousands of earthquakes reaching 6.4 magnitude, and the COVID-19 pandemic. In this context, our team sought to understand the impact of disaster aid distribution on poverty and economic inequality, and their relationship to the spread of COVID-19 across Puerto Rico. Rapid research was required to ensure we could collect perishable data within this ever-changing context. Challenges: Our mixed methods design relied on both secondary and primary data. Because analyses of the former were to inform where and how to collect the latter, timing was of the essence. The data sources identified were not readily available to the public, and thus required gaining access through direct requests to government agencies. The requests coincided with a transition between administrations after an election. This resulted in unexpected delays. Once in the field, the team had to balance the rapid nature of the research with the mindful work to avoid compounding traumas experienced by participants, heightened risk for re-traumatization and fatigue, the risk of COVID-19, the digital divide, and intermittent electrical and telecommunication services. Adaptations: In response to the delayed access to secondary data, we adjusted our research question. We continued to collect data as they became available, incorporating some immediately into analyses, and cleaning and storing others for future research opportunities. To overcome ongoing trauma challenges and prevent fatigue, we recruited and hired a large temporary team, including members of communities where we collected data. By recruiting participants and co-researchers at the same time and place, we both collapsed time between these activities and increased our team's contextual competency. To adapt to challenges presented by the pandemic, we created hybrid data collection procedures where some data were collected online, and some in person, while maintaining COVID-19 protections. We used similar adaptations for dissemination. Lessons: Rapid research needs to be agile. Working within a convergence framework to investigate wicked problems had the unexpected added benefit of providing our team with a variety of disciplinary approaches which proved helpful in adapting to the changing conditions in the field. In addition to the resourcefulness of a transdisciplinary team, it is important to be willing to pivot in response to changes and to collect data where and when you can. To increase participation, opportunities need to be designed with flexibility, mindful of competing demands faced by individuals willing to collaborate. Collecting and analyzing data iteratively and utilizing local resources can enable rapid research that is rigorous and yields rich data. Contributions: Our team applied the lessons learned to structure a rapid and iterative dissemination plan. We combined member-checking with community-level dissemination, enabling us to hone findings further before presenting to policy makers and media. Rapid research creates opportunities to make data-informed program and policy adjustments when they can be most impactful. Both the media and policy makers pay closer attention to research on current events. Hence, our recommendation is to do more rapid research! The more we do, the better we will get at it, and the more accustomed community leaders, policy makers, and program designers will become to using data to inform decisions.

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