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1.
Chemistry ; : e202400621, 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38536207

RESUMO

Donor-Acceptor Stenhouse Adduct (DASA), a class of push-pull negative photochrome, has received large interest lately owing to its versatile synthesis, modularity and excellent photoswitching in solutions. From a technological perspective, it is imperative for this class of photoswitches to work robustly in solid state, e. g. thin films. We feature a molecular framework for the optimized design of DASAs by introducing a new thioindoline donor (D3) and assessing its performance against known 2nd generation indoline-based donors. The systematic structure-function investigations suggest that to achieve robust reversible photoswitching, a ground state with low charge separation is desired. DASAs with stronger electron donors and a larger charge separation in the ground state result in a low population of the photothermalstationary state (PTSS) and reduced photostability. The DASA with thioindoline donor (D3A3) seems to be a special case among the donor series as it causes a red shift (ca. 15 nm), however with less polarization of the ground state and marginally better photostability as compared to the unsubstituted 2-methyl indoline (D1A3). We also emphasize the consideration of the key additional factors that can modulate the red-light photoswitching properties of DASA chromophores in polymer thin films, which might not be dominant in homogenous solution state.

2.
Respir Care ; 69(2): 210-217, 2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-37643868

RESUMO

BACKGROUND: Perceived organizational support has been linked to employee commitment and job satisfaction. Understanding the effects of perceived organizational support on employees allows leaders to improve employees' performance and the success of their organizations. The purpose of this study was to identify the perceived organizational support across different respiratory care education programs in the United States. METHODS: All chairs and program directors of bachelor's of science and master's of science degree respiratory care education programs in the United States were surveyed (N = 97). The Survey of Perceived Organizational Support was modified after written approval, and the final instrument included 31 items with a Likert scale (1 = strongly disagree, 7 = strongly agree). Descriptive statistics, multiple regression, and topic modeling were used for data analysis (P < .05). RESULTS: A total of 67 respondents responded to the perceived organizational support survey; a 69% response rate. They were satisfied with their job and committed to their institutions. They also reported that faculty salaries were equitable relative to the national average, and their institutions encouraged teamwork among faculty. The respondents' titles, total years of administrative experience, students' scores on the national credentialing therapist multiple choice examination (TMC), and institutions that offer both bachelor's of science and master's of science degree programs had a direct relationship with perceived organizational support in respiratory care education programs. Age and sex were inversely related to perceived organizational support. A topic modeling analysis based on the respondents' opinions about perceived organizational support showed that the respondents frequently mentioned the words support, institution, budget, year, nursing, and experience. The respondents emphasized the importance of support, institution marketing, their years of experience, and the program budget. They also mentioned that nursing programs overshadowed respiratory care education programs at their institutions. CONCLUSIONS: Age, sex, job title, years of administrative experience, students' TMC scores, and the type of programs offered impacted perceived organizational support by respiratory care directors. Student-, program- and participant-related factors can be used to improve perceived organizational support in respiratory care education.


Assuntos
Docentes , Estudantes , Humanos , Estados Unidos , Inquéritos e Questionários , Análise Multivariada
3.
World Neurosurg ; 181: e826-e832, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37925149

RESUMO

BACKGROUND: The ophthalmic artery normally travels with the optic nerve through the optic canal. However, sometimes, the ophthalmic artery travels through a foramen within the optic strut named an accessory optic canal, double optic canal, or ophthalmic canal. This variant puts individuals at an increased risk for blindness or death during anterior clinoidectomy due to unforeseen hemorrhage of the ophthalmic artery or internal carotid artery when the optic strut is separated from the body of the sphenoid bone. Several features make the accessory optic canal difficult to recognize on imaging: its variant nature, small size, and ability to masquerade as a caroticoclinoid foramen or a pneumatized sphenoidal structure. Hence, improved methods of presurgical identification are warranted. The aim of this study was to assess the size and shape of the optic canal, with and without a concomitant accessory optic canal, to determine whether measurement of the optic canal may provide useful information regarding the presence of an accessory optic canal. METHODS: In 191 dry crania, optic canals with and without concomitant accessory optic canals were assessed for the following parameters: canal area, canal perimeter, circularity, solidity, the axes and aspect ratio of a best-fit ellipse, and roundness. RESULTS: Normal optic canals were found to have a larger area (P = 0.036), perimeter (P = 0.043), and minor axis of a best-fit ellipse (P = 0.031) than the optic canals that occurred alongside accessory optic canals. CONCLUSIONS: Asymmetry in optic canal size can help indicate the presence of a unilateral accessory optic canal before surgery.


Assuntos
Artéria Carótida Interna , Artéria Oftálmica , Humanos , Artéria Carótida Interna/cirurgia , Artéria Oftálmica/diagnóstico por imagem , Artéria Oftálmica/cirurgia , Osso Esfenoide/diagnóstico por imagem , Osso Esfenoide/cirurgia , Olho , Nervo Óptico/diagnóstico por imagem , Nervo Óptico/cirurgia
4.
Sci Rep ; 13(1): 22998, 2023 12 28.
Artigo em Inglês | MEDLINE | ID: mdl-38155156

RESUMO

Durgama Anchalare Malaria Nirakaran (DAMaN) is a multi-component malaria intervention for hard-to-reach villages in Odisha, India. The main component, malaria camps (MCs), consists of mass screening, treatment, education, and intensified vector control. We evaluated MC effectiveness using a quasi-experimental cluster-assigned stepped-wedge study with a pretest-posttest control group in 15 villages: six immediate (Arm A), six delayed (Arm B), and three previous interventions (Arm C). The primary outcome was PCR + Plasmodium infection prevalence. The time (i.e., baseline vs. follow-up 3) x study arm interaction term shows that there were statistically significant lower odds of PCR + Plasmodium infection in Arm A (AOR = 0.36, 95% CI = 0.17, 0.74) but not Arm C as compared to Arm B at the third follow-up. The cost per person ranged between US$3-8, the cost per tested US$4-9, and the cost per treated US$82-1,614, per camp round. These results suggest that the DAMaN intervention is a promising and financially feasible approach for malaria control.


Assuntos
Malária , Humanos , Índia/epidemiologia , Malária/epidemiologia , Malária/prevenção & controle , Malária/diagnóstico , Programas de Rastreamento , Prevalência
5.
Environ Entomol ; 52(6): 1082-1094, 2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-37827520

RESUMO

Host-plant phenology can directly and indirectly mediate the abundance of insect herbivores. Our objective was to determine how host-plant flowering phenology shapes a facultative ant-lycaenid mutualism. The focus of our research was the hops azure, Celastrina humulus Scott & D. Wright, a rare species whose larvae feed on the pollen-bearing inflorescences of Humulus lupulus var. neomexicanus. We used several approaches to evaluate the role of host-plant flowering phenology in this system. First, we monitored larvae over three study years (2020-2022) to parse the role of host-plant flowering phenology and other factors in shaping the likelihood of ant tending. Second, we tested larval performance at various phenological stages of the host plant. We also quantified variation in soluble proteins and secondary metabolites among inflorescences at varying phenological stages. Lastly, we treated artificial sugar-protein baits with extracts from different phenological stages of the host plant; this allowed us to assess how chemical variation among stages could impact ant recruitment. Monitoring results revealed that the likelihood of ant tending was lowest for larvae on host plants with early-stage inflorescences. These floral stages had the greatest concentrations of both soluble proteins and α-acids (humulone and cohumulone), and in the feeding trial, early-stage flowers enabled greater weight gain for larvae. However, extracts from early-stage flowers reduced ant recruitment to sugar-protein baits. Altogether, these results suggest that early-stage inflorescences enhance larval growth while also reducing the recruitment of mutualist ants. This shows an indirect mechanism whereby changing host-plant phenology can mediate herbivore populations through interactions with ants.


Assuntos
Formigas , Borboletas , Humulus , Animais , Simbiose , Larva , Plantas , Açúcares
6.
Nutrients ; 15(18)2023 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-37764675

RESUMO

Aging results in more health challenges, including neurodegeneration. Healthy aging is possible through nutrition as well as other lifestyle changes. One-carbon (1C) metabolism is a key metabolic network that integrates nutritional signals with several processes in the human body. Dietary supplementation of 1C components, such as folic acid, vitamin B12, and choline are reported to have beneficial effects on normal and diseased brain function. The aim of this review is to summarize the current clinical studies investigating dietary supplementation of 1C, specifically folic acid, choline, and vitamin B12, and its effects on healthy aging. Preclinical studies using model systems have been included to discuss supplementation mechanisms of action. This article will also discuss future steps to consider for supplementation. Dietary supplementation of folic acid, vitamin B12, or choline has positive effects on normal and diseased brain function. Considerations for dietary supplementation to promote healthy aging include using precision medicine for individualized plans, avoiding over-supplementation, and combining therapies.


Assuntos
Suplementos Nutricionais , Envelhecimento Saudável , Humanos , Ácido Fólico/farmacologia , Encéfalo , Vitamina B 12/farmacologia , Colina/farmacologia
7.
medRxiv ; 2023 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-36711482

RESUMO

Durgama Anchalare Malaria Nirakaran (DAMaN) is a multi-component malaria intervention for hard-to-reach villages in Odisha, India. The main component, Malaria Camps (MCs), consists of mass screening, treatment, education, and intensified vector control. We evaluated MC effectiveness using a quasi-experimental cluster-assigned stepped-wedge study with a pretest-posttest control group in 15 villages: six immediate (Arm A), six delayed (Arm B), and three previous interventions (Arm C). The primary outcome was PCR+ Plasmodium infection prevalence. Across all arms, the odds of PCR+ malaria were 54% lower at the third follow-up compared to baseline. A time (i.e., visit) x study arm interaction revealed significantly lower odds of PCR+ malaria in Arm A versus B at the third follow-up. The cost per person ranged between US$3-8, the cost per tested US$4-7, and the cost per treated US$82-1,614, per camp round. These results suggest that the DAMaN intervention is a promising, financially feasible approach for malaria control.

8.
Behav Med ; 49(2): 162-171, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-34791993

RESUMO

The COVID-19 pandemic has resulted in social isolation and reports of insomnia. However, reports of changes in sleep duration and associated factors are few. To determine the impact of COVID-19 on changes in sleep behavior, data were analyzed from an online survey of adults recruited via social media that included questions asking whether the respondent slept less or more after the onset of the pandemic as well as self-reported sociodemographic and occupational information; beliefs about COVID-19; and responses pertaining to loneliness, anxiety, and depression. There were 5,175 respondents; 53.9% had a change in sleep duration.17.1% slept less and 36.7% slept more. Sleeping more was related to greater education, being single/divorced/separated, unemployed or a student. Being retired, divorced/separated or a homemaker, and living in the Mountain or Central time zones were associated with less sleep. Beliefs that COVID-19 would result in personal adverse consequences was associated with both more and less sleep. However, the strongest associations for both more and less sleep were seen with depression, anxiety, and loneliness. In summary, changes in sleep duration since the start of the COVID-19 pandemic were highly prevalent among social media users and were associated with several sociodemographic factors and beliefs that COVID-19 would have adverse personal impacts. However, the strongest associations occurred with worse mental health suggesting that improvements may occur with better sleep.Supplemental data for this article is available online at https://doi.org/10.1080/08964289.2021.2002800 .


Assuntos
COVID-19 , Adulto , Humanos , Ansiedade/psicologia , Depressão/psicologia , Pandemias , SARS-CoV-2 , Sono , Duração do Sono , Privação do Sono
9.
J Phys Chem C Nanomater Interfaces ; 126(45): 19250-19261, 2022 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-36424999

RESUMO

A series of three perylenemonoimide-p-oligophenylene-dimethylaniline molecular dyads undergo photoinduced charge separation (CS) with anomalous distance dependence as a function of increasing donor-acceptor (DA) distances. A comprehensive experimental and computational investigation of the photodynamics in the donor-bridge-acceptor (DBA) chromophores reveals a clear demarcation concerning the nature of the CS accessed at shorter (bridgeless) and longer DA distances. At the shortest distance, a strong DA interaction and ground-state charge delocalization populate a hot excited state (ES) with prominent charge transfer (CT) character, via Franck-Condon vertical excitation. The presence of such a CT-polarized hot ES enables a subpicosecond CS in the bridgeless dyad. The incorporation of the p-oligophenylene bridge effectively decouples the donor and the acceptor units in the ground state and consequentially suppresses the CT polarization in the hot ES. Theoretically, this should render a slower CS at longer distances. However, the transient absorption measurement reveals a fast CS process at the longer distance, contrary to the anticipated exponential distance dependence of the CS rates. A closer look into the excited-state dynamics suggests that the hot ES undergoes ultrafast geometry relaxation (τ < 1 ps) to create a relaxed ES. As compared to a decoupled, twisted geometry in the hot ES, the geometry of the relaxed ES exhibits a more planar conformation of the p-oligophenylene bridges. Planarization of the bridge endorses an increased charge delocalization and a prominent CT character in the relaxed ES and forms the origin for the evident fast CS at the longest distance. Thus, the relaxation of the hot ES and the concomitantly enhanced charge delocalization adds a new caveat to the classic nature of distance-dependent CS in artificial DBA chromophores and recommends a cautious treatment of the attenuation factor (ß) while discussing anomalous CS trends.

10.
Clin Simul Nurs ; 72: 37-42, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36317065

RESUMO

Background: Two National League for Nursing (NLN) Advancing Care Excellence for Seniors (ACE.S) cases were transformed into engaging and interactive virtual simulation learning experiences due to the COVID-19 pandemic. Methods: The purpose of this article is to describe the process of designing and implementing this novel approach to virtual simulation. Results: Faculty aligned each virtual simulation with existing course outcomes, student learning outcomes, concept-based learning principles, and best practices of The International Nursing Association for Clinical Simulation and Learning (INACSL) standards. Conclusions: Practical strategies used to convert these unfolding case studies into virtual simulations for a small private Christian university of undergraduate junior level accelerated nursing students will be revealed.

11.
Cereb Circ Cogn Behav ; 3: 100153, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36353072

RESUMO

Objective: Cerebral blood flow (CBF) has been independently linked to cognitive impairment and traditional Alzheimer's disease (AD) pathology (e.g., amyloid-beta [Aß], tau) in older adults. However, less is known about the possible interactive effects of CBF, Aß, and tau on memory performance. The present study examined whether CBF moderates the effect of Aß and tau on objective and subjective memory within cognitively unimpaired (CU) older adults. Methods: Participants included 54 predominately white CU older adults from the Alzheimer's Disease Neuroimaging Initiative. Multiple linear regression models examined meta-temporal CBF associations with (1) meta-temporal tau PET adjusting for cortical Aß PET and (2) and cortical Aß PET adjusting for tau PET. The CBF and tau meta region was an average of 5 distinct temporal lobe regions. CBF interactions with Aß or tau PET on memory performance were also examined. Covariates for all models included age, sex, education, pulse pressure, APOE-ε4 positivity, and imaging acquisition date differences. Results: CBF was significantly negatively associated with tau PET (t = -2.16, p = .04) but not Aß PET (t = 0.98, p = .33). Results revealed a CBF by tau PET interaction such that there was a stronger effect of tau PET on objective (t = 2.51, p = .02) and subjective (t = -2.67, p = .01) memory outcomes among individuals with lower levels of CBF. Conclusions: Cerebrovascular and tau pathologies may interact to influence cognitive performance. This study highlights the need for future vascular risk interventions, which could offer a scalable and cost-effective method for AD prevention.

12.
Neuroimage ; 263: 119589, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36030062

RESUMO

Most neuroimaging studies of brain function analyze data in normalized space to identify regions of common activation across participants. These studies treat interindividual differences in brain organization as noise, but this approach can obscure important information about the brain's functional architecture. Recently, a number of studies have adopted a person-specific approach that aims to characterize these individual differences and explore their reliability and implications for behavior. A subset of these studies has taken a precision imaging approach that collects multiple hours of data from each participant to map brain function on a finer scale. In this review, we provide a broad overview of how person-specific and precision imaging techniques have used resting-state measures to examine individual differences in the brain's organization and their impact on behavior, followed by how task-based activity continues to add detail to these discoveries. We argue that person-specific and precision approaches demonstrate substantial promise in uncovering new details of the brain's functional organization and its relationship to behavior in many areas of cognitive neuroscience. We also discuss some current limitations in this new field and some new directions it may take.


Assuntos
Conectoma , Imageamento por Ressonância Magnética , Humanos , Imageamento por Ressonância Magnética/métodos , Conectoma/métodos , Reprodutibilidade dos Testes , Encéfalo/fisiologia , Neuroimagem
13.
Nature ; 609(7926): 408-415, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35831509

RESUMO

Receptor tyrosine kinase (RTK)-RAS signalling through the downstream mitogen-activated protein kinase (MAPK) cascade regulates cell proliferation and survival. The SHOC2-MRAS-PP1C holophosphatase complex functions as a key regulator of RTK-RAS signalling by removing an inhibitory phosphorylation event on the RAF family of proteins to potentiate MAPK signalling1. SHOC2 forms a ternary complex with MRAS and PP1C, and human germline gain-of-function mutations in this complex result in congenital RASopathy syndromes2-5. However, the structure and assembly of this complex are poorly understood. Here we use cryo-electron microscopy to resolve the structure of the SHOC2-MRAS-PP1C complex. We define the biophysical principles of holoenzyme interactions, elucidate the assembly order of the complex, and systematically interrogate the functional consequence of nearly all of the possible missense variants of SHOC2 through deep mutational scanning. We show that SHOC2 binds PP1C and MRAS through the concave surface of the leucine-rich repeat region and further engages PP1C through the N-terminal disordered region that contains a cryptic RVXF motif. Complex formation is initially mediated by interactions between SHOC2 and PP1C and is stabilized by the binding of GTP-loaded MRAS. These observations explain how mutant versions of SHOC2 in RASopathies and cancer stabilize the interactions of complex members to enhance holophosphatase activity. Together, this integrative structure-function model comprehensively defines key binding interactions within the SHOC2-MRAS-PP1C holophosphatase complex and will inform therapeutic development .


Assuntos
Microscopia Crioeletrônica , Peptídeos e Proteínas de Sinalização Intracelular , Complexos Multiproteicos , Proteína Fosfatase 1 , Proteínas ras , Motivos de Aminoácidos , Sítios de Ligação , Guanosina Trifosfato/metabolismo , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/química , Peptídeos e Proteínas de Sinalização Intracelular/genética , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Sistema de Sinalização das MAP Quinases , Complexos Multiproteicos/química , Complexos Multiproteicos/metabolismo , Complexos Multiproteicos/ultraestrutura , Mutação de Sentido Incorreto , Fosforilação , Ligação Proteica , Proteína Fosfatase 1/química , Proteína Fosfatase 1/metabolismo , Proteína Fosfatase 1/ultraestrutura , Estabilidade Proteica , Quinases raf , Proteínas ras/química , Proteínas ras/metabolismo , Proteínas ras/ultraestrutura
14.
Neuropsychology ; 36(7): 640-650, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35797177

RESUMO

OBJECTIVE: Racial inequalities in dementia have been linked to disparities in socioeconomic status, chronic diseases, and psychosocial stress. Less focus has been given to psychosocial protective factors. Previous studies suggest that social engagement promotes better cognitive aging, but few have examined whether social engagement or its associations with cognition vary across non-Hispanic Whites (NHW) and Blacks (NHB). METHOD: Participants included 465 adults (53% NHB) from the Michigan Cognitive Aging Project (Mage = 63.59 ± 3.15) who completed a comprehensive neuropsychological battery. Social engagement was operationalized as network size, frequency of social activity participation, and social support. Cognition was operationalized using factor scores corresponding to five domains: episodic memory, executive functioning, processing speed, language, and visuospatial functioning. Cross-sectional associations between social engagement and cognitive outcomes were examined using race-stratified regressions controlling for age, sex/gender, education, wealth, marital status, depressive symptoms, and chronic diseases. RESULTS: There were no racial differences in social network size or social support. NHB participants reported less social activity participation than NHW participants. Social activity participation was positively associated with memory in NHW, but not NHB. CONCLUSIONS: These findings may suggest a threshold effect whereby NHB older adults are less likely to participate in social activities at the level needed to yield cognitive benefits. Lower social activity participation among NHB may reflect structural barriers and/or cultural differences in patterns of social engagement. This study highlights the need to improve measurement of and access to culturally relevant social activities for NHB to combat racial inequalities in cognitive aging. (PsycInfo Database Record (c) 2022 APA, all rights reserved).


Assuntos
Negro ou Afro-Americano , População Branca , Negro ou Afro-Americano/psicologia , Idoso , Cognição , Estudos Transversais , Hispânico ou Latino , Humanos , Pessoa de Meia-Idade , Participação Social
15.
BMC Public Health ; 22(1): 870, 2022 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-35501740

RESUMO

BACKGROUND: The COVID-19 pandemic has disproportionately impacted economically-disadvantaged populations in the United States (US). Precarious employment conditions may contribute to these disparities by impeding workers in such conditions from adopting COVID-19 mitigation measures to reduce infection risk. This study investigated the relationship between employment and economic conditions and the adoption of COVID-19 protective behaviors among US workers during the initial phase of the COVID-19 pandemic. METHODS: Employing a social media advertisement campaign, an online, self-administered survey was used to collect data from 2,845 working adults in April 2020. Hierarchical generalized linear models were performed to assess the differences in engagement with recommended protective behaviors based on employment and economic conditions, while controlling for knowledge and perceived threat of COVID-19, as would be predicted by the Health Belief Model (HBM). RESULTS: Essential workers had more precarious employment and economic conditions than non-essential workers: 67% had variable income; 30% did not have paid sick leave; 42% had lost income due to COVID-19, and 15% were food insecure. The adoption of protective behaviors was high in the sample: 77% of participants avoided leaving home, and 93% increased hand hygiene. Consistent with the HBM, COVID-19 knowledge scores and perceived threat were positively associated with engaging in all protective behaviors. However, after controlling for these, essential workers were 60% and 70% less likely than non-essential workers, who by the nature of their jobs cannot stay at home, to stay at home and increase hand hygiene, respectively. Similarly, participants who could not afford to quarantine were 50% less likely to avoid leaving home (AOR: 0.5; 95% CI: 0.4, 0.6) than those who could, whereas there were no significant differences concerning hand hygiene. CONCLUSIONS: Our findings are consistent with the accumulating evidence that the employment conditions of essential workers and other low-income earners are precarious, that they have experienced disproportionately higher rates of income loss during the initial phase of the COVID-19 pandemic and face significant barriers to adopting protective measures. Our findings underscore the importance and need of policy responses focusing on expanding social protection and benefits to prevent the further deepening of existing health disparities in the US.


Assuntos
COVID-19 , Adulto , COVID-19/prevenção & controle , Emprego , Humanos , Renda , Pandemias/prevenção & controle , Pobreza , Estados Unidos/epidemiologia
16.
Am J Hum Genet ; 109(5): 944-952, 2022 05 05.
Artigo em Inglês | MEDLINE | ID: mdl-35358416

RESUMO

Calcium (Ca2+) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca2+ transporting 1 (ATP2B1) belongs to the family of ATP-driven calmodulin-dependent Ca2+ pumps that participate in the regulation of intracellular free Ca2+. Here, we clinically describe a cohort of 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism, seizures, and distal limb abnormalities. Nine probands harbor missense variants, seven of which were in specific functional domains, and three individuals have nonsense variants. 3D structural protein modeling suggested that the variants have a destabilizing effect on the protein. We performed Ca2+ imaging after introducing all nine missense variants in transfected HEK293 cells and showed that all variants lead to a significant decrease in Ca2+ export capacity compared with the wild-type construct, thus proving their pathogenicity. Furthermore, we observed for the same variant set an incorrect intracellular localization of ATP2B1. The genetic findings and the overlapping phenotype of the probands as well as the functional analyses imply that de novo variants in ATP2B1 lead to a monogenic form of neurodevelopmental disorder.


Assuntos
Deficiência Intelectual , Malformações do Sistema Nervoso , Transtornos do Neurodesenvolvimento , Células HEK293 , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Mutação de Sentido Incorreto/genética , Transtornos do Neurodesenvolvimento/genética , Fenótipo , ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
17.
Birth Defects Res ; 114(8): 314-318, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35332688

RESUMO

BACKGROUND: The US Zika Pregnancy and Infant Registry (USZPIR) monitors infants born to mothers with confirmed or possible Zika virus infection during pregnancy. The surveillance case definition for Zika-associated birth defects includes microcephaly based on head circumference (HC). METHODS: We assessed birth and follow-up data from infants with birth HC measurements <3rd percentile and birthweight ≥10th percentile to determine possible misclassification of microcephaly. We developed a schema informed by literature review and expert opinion to identify possible HC measurement inaccuracy using HC growth velocity and longitudinal HC measurements between 2 and 12 months of age. Two or more HC measurements were required for assessment. Inaccuracy in birth HC measurement was suspected if growth velocity was >3 cm/month in the first 3 months or HC was consistently >25th percentile during follow-up. RESULTS: Of 6,799 liveborn infants in USZPIR, 351 (5.2%) had Zika-associated birth defects, of which 111 had birth HC measurements <3rd percentile and birthweight ≥10th percentile. Of 84/111 infants with sufficient follow-up, 38/84 (45%) were classified as having possible inaccuracy of birth HC measurement, 19/84 (23%) had HC ≥3rd percentile on follow-up without meeting criteria for possible inaccuracy, and 27/84 (32%) had continued HC <3rd percentile. After excluding possible inaccuracies, the proportion of infants with Zika-associated birth defects including microcephaly decreased from 5.2% to 4.6%. CONCLUSIONS: About one-third of infants in USZPIR with Zika-associated birth defects had only microcephaly, but indications of possible measurement inaccuracy were common. Implementation of this schema in longitudinal studies can reduce misclassification of microcephaly.


Assuntos
Microcefalia , Complicações Infecciosas na Gravidez , Infecção por Zika virus , Zika virus , Peso ao Nascer , Feminino , Humanos , Lactente , Masculino , Microcefalia/diagnóstico , Microcefalia/epidemiologia , Microcefalia/etiologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Sistema de Registros , Infecção por Zika virus/complicações , Infecção por Zika virus/diagnóstico , Infecção por Zika virus/epidemiologia
18.
Assist Technol ; : 1-7, 2022 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-35114088

RESUMO

Adaptive ride-on toy programs have increased in popularity in recent years and provide novel rehabilitation tools as developmental aids for children with disabilities. While the adaptations made to these toys are intended to provide a safer experience for children with disabilities, safety concerns still exist. Within this context, the purpose of this study was to use a model with varying joint stiffness as a first-order approximation of a child with disabilities and to investigate whether modifications to ride-on toys are sufficient to prevent common injuries. Because the population of children with disabilities who are receiving adaptive ride-on toys have a wide range of musculoskeletal disorders, those with both decreased and increased muscle stiffness were considered in this safety study. A 5-point harness reduced movement regardless of change in joint stiffness and therefore, results from this study indicate that the use of these harnesses is effective regardless of joint stiffness. Furthermore, as excursion-related injuries are considered more critical to the user than injuries relating to kinetic variables and no known injury thresholds were exceeded, the addition of a belt is considered a necessary trade-off with little-to-no added risk.

19.
Assist Technol ; 34(3): 375-381, 2022 05 04.
Artigo em Inglês | MEDLINE | ID: mdl-33030988

RESUMO

Modified battery-powered ride-on toy cars represent novel rehabilitation tools for children with disabilities. However, safety concerns exist with the use of these battery-power toys and pose a barrier for the growth of adaptive ride-on toy programs due to the lack of evidence demonstrating that modifications made to these cars are safe. Within this context, the purpose of this study was to investigate whether modifications to ride-on toys are sufficient to prevent common injuries and determine how these modifications influence injury metrics. Specifically, we evaluated the effects of common modifications such as various seatbelt configurations and determined how increased seat back height effects neck forces. Results indicated that occupant displacement can be reduced using a lap belt, and further reductions in displacement are achieved with a 5-point harness. Although some injury metrics increased with restraints, none of the collected injury metrics even came close to approaching known tolerance thresholds, and most were well within the range that is experienced by a child in daily life. As the greatest concerns for these ride-on toys are related to displacement, findings from this study support the use of a 5-point harness system to minimize displacement-related injuries with little-to-no added risk.


Assuntos
Acidentes de Trânsito , Automóveis , Acidentes de Trânsito/prevenção & controle , Criança , Humanos , Pescoço , Cintos de Segurança
20.
Z Gesundh Wiss ; 30(8): 2069-2079, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-33996384

RESUMO

Aim: Given the need for data to inform public health messaging to mitigate the COVID-19 pandemic, this national survey sought to assess the state of COVID-19-related knowledge, beliefs, mental health, substance use changes, and behaviors among a sample of U.S. adults. Subject and methods: In the period March 20-30, 2020, we collected data on COVID-19-related knowledge, awareness and adoption of preventive practices, depression and anxiety (Patient Health Questionnaire-4), stress (Impact of Event Scale-6), pessimism, and tobacco and alcohol use. Differences between age groups (18-39 years, 40-59 years and ≥ 60 years) were tested using Pearson's chi-squared tests or ANOVAs; associations between drinking and smoking and depression, anxiety, and stress were tested using adjusted logistic regression models. Results: Approximately half of the sample (N Total = 6391) were 50-69 years old and 58% were female. COVID-19 knowledge (mean = 12.0; SD = 1.2) and protective practice awareness (mean = 9.1; SD = 0.8) were high. Among respondents, 44% had a score consistent with depression and anxiety (PHQ-4 score ≥ 6), and 52% reported high stress scores (≥ median of 1.33). COVID-19-related anxiety and depression were associated with increased drinking (AOR = 1.79; 95% CI = 1.49, 2.15) and smoking (AOR = 2.17; 95% CI = 1.64, 2.88). High stress scores were also associated with increased drinking (AOR = 1.80; 95% CI = 1.49, 2.17, p < 0.001) and smoking (AOR = 1.75; 95% CI = 1.31, 2.33). Conclusions: In spite of high knowledge levels, important gaps were identified. High prevalence of poor mental health outcomes and associated increases in drinking and smoking warrant ongoing risk communications tailoring to effectively disseminate information and expanding psychosocial services, particularly via telehealth, to mitigate the negative mental health impact of COVID-19. Supplementary Information: The online version contains supplementary material available at 10.1007/s10389-021-01564-4.

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