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1.
Autism ; : 13623613241235061, 2024 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-38584374

RESUMO

LAY ABSTRACT: Self-compassion is when we are aware of our feelings and thoughts, are friendly toward ourselves, and realize everyone feels pain and makes mistakes. Self-compassion is associated with having better mental health and well-being in autistic and non-autistic people. But we do not know if autistic people's self-compassion can be improved through psychoeducation and self-compassion practices. We co-produced an online self-guided self-compassion program based on evidence-based self-compassion practices for autistic adults called the Self-compassion Program for Autistic Adults. This program included live-experiences videos of autistic adults reflecting on their self-compassion and self-critical experiences. This study piloted the program with 39 autistic adults. We wanted to see if these autistic adults' self-compassion, emotion regulation, mental health, and psychological well-being improved after completing this program. We found that the autistic participants' self-compassion, emotion regulation, mental health, and psychological well-being improved significantly after completing the program over 5 weeks. We also found that just over half of the participants reported experiencing negative reactions associated with self-compassion practices. We suggested some clinical implications, including a recommendation for emotion regulation interventions to incorporate self-compassion to help promote access to the affiliative system. In addition, autistic adults who are psychologically vulnerable may need to work with mental health professionals while developing self-compassion to help manage the possible negative reactions associated with some self-compassion practices.

2.
Front Endocrinol (Lausanne) ; 15: 1341546, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38654930

RESUMO

Objective: This study aimed to quantify the severity of metabolic syndrome(MetS) and investigate its association with cardiovascular disease(CVD) risk on Chinese adults. Methods: 13,500 participants from the Zhejiang Adult Chronic Disease Study were followed up between 2010 and 2021. A continuous MetS severity score derived from the five components of MetS was used to quantify MetS severity, and the association between MetS severity and the risk of incident CVD was assessed using Cox proportional hazard and restricted cubic spline regression. Results: Both the presence and severity of MetS were strongly associated with CVD risk. MetS was related to an increased risk of CVD (hazard ratio(HR):1.700, 95% confidence interval(CI): 1.380-2.094). Compared with the hazard ratio for CVD in the lowest quartile of the MetS severity score, that in the second, third, and highest quartiles were 1.812 (1.329-2.470), 1.746 (1.265-2.410), and 2.817 (2.015-3.938), respectively. A linear and positive dose-response relationship was observed between the MetS severity and CVD risk (P for non-linearity = 0.437). Similar results were found in various sensitivity analyses. Conclusion: The MetS severity score was significantly associated with CVD risk. Assessing MetS severity and further ensuring intervention measures according to the different severities of MetS may be more useful in preventing CVD.


Assuntos
Doenças Cardiovasculares , Síndrome Metabólica , Índice de Gravidade de Doença , Humanos , Síndrome Metabólica/epidemiologia , Síndrome Metabólica/complicações , Masculino , Doenças Cardiovasculares/epidemiologia , Feminino , Pessoa de Meia-Idade , Estudos Longitudinais , Adulto , China/epidemiologia , Fatores de Risco , Idoso , Estudos de Coortes , Seguimentos , Incidência , População do Leste Asiático
3.
bioRxiv ; 2024 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-38405902

RESUMO

Osteogenic differentiation is essential for bone development and metabolism, but the underlying gene regulatory networks have not been well investigated. We differentiated mesenchymal stem cells, derived from 20 human induced pluripotent stem cell lines, into preosteoblasts and osteoblasts, and performed systematic RNA-seq analyses of 60 samples for differential gene expression. We noted a highly significant correlation in expression patterns and genomic proximity among transcription factor (TF) and long noncoding RNA (lncRNA) genes. We identified TF-TF regulatory networks, regulatory roles of lncRNAs on their neighboring coding genes for TFs and splicing factors, and differential splicing of TF, lncRNA, and splicing factor genes. TF-TF regulatory and gene co-expression network analyses suggested an inhibitory role of TF KLF16 in osteogenic differentiation. We demonstrate that in vitro overexpression of human KLF16 inhibits osteogenic differentiation and mineralization, and in vivo Klf16+/- mice exhibit increased bone mineral density, trabecular number, and cortical bone area. Thus, our model system highlights the regulatory complexity of osteogenic differentiation and identifies novel osteogenic genes.

4.
Autism ; : 13623613241234097, 2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-38383994

RESUMO

LAY ABSTRACT: Autistic people often struggle to find the right support for their mental health. We wanted to change that by trying a new approach to help autistic adults with their emotions and well-being. We focused on something called "self-compassion," which is a way of being kind and understanding toward ourselves. This approach has worked well for many people, but we didn't know if it would work for autistic individuals. We invited 39 autistic adults to join an online program that taught them about self-compassion. The program lasted 5 weeks and included educational materials, meditation exercises, and self-reflection activities. We asked the participants for feedback each week and at the end of the program. From their responses, we discovered four important things. First, self-compassion had a big positive impact on the well-being of autistic adults. Second, they faced some challenges during the program. Third, they saw self-compassion as a journey that takes time and practice. Finally, they described how they valued changes to help autistic people engage with the program. Our findings show that self-compassion can really help autistic adults. We learned about the benefits they experienced and the difficulties they faced. Most importantly, we found that personalized support is crucial for autistic individuals. By creating programs that consider their specific needs, we can improve their mental health and make their lives better.

5.
J Neurol ; 271(2): 918-928, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37848650

RESUMO

BACKGROUND: Many neuroscience and neurology studies have forced a reconsideration of the traditional motor-related scope of cerebellar function, which has now expanded to include various cognitive functions. Spinocerebellar ataxia type 3 (SCA3; the most common hereditary ataxia) is neuropathologically characterized by cerebellar atrophy and frequently presents with cognitive impairment. OBJECTIVE: To characterize cognitive impairment in SCA3 and investigate the cerebellum-cognition associations. METHODS: This prospective, cross-sectional cohort study recruited 126 SCA3 patients and 41 healthy control individuals (HCs). Participants underwent a brain 3D T1-weighted images as well as neuropsychological tests. Voxel-based morphometry (VBM) and region of interest (ROI) approaches were performed on the 3D T1-weighted images. CERES was used to automatically segment cerebellums. Patients were grouped into cognitively impaired (CI) and cognitively preserved (CP), and clinical and MRI parameters were compared. Multivariable regression models were fitted to examine associations between cerebellar microstructural alterations and cognitive domain impairments. RESULTS: Compared to HCs, SCA3 patients showed cognitive domain impairments in information processing speed, verbal memory, executive function, and visuospatial perception. Between CI and CP subgroups, the CI subgroup was older and had lower education, as well as higher severity scores. VBM and ROI analyses revealed volume loss in cerebellar bilateral lobule VI, right lobule Crus I, and right lobule IV of the CI subgroup, and all these cerebellar lobules were associated with the above cognitive domain impairments. CONCLUSIONS: Our findings demonstrate the multiple cognitive domain impairments in SCA3 patients and indicate the responsible cerebellar lobules for the impaired cognitive domain(s).


Assuntos
Disfunção Cognitiva , Doença de Machado-Joseph , Humanos , Cerebelo/diagnóstico por imagem , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/etiologia , Estudos Transversais , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Estudos Prospectivos
6.
J Health Psychol ; : 13591053231209668, 2023 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-38069594

RESUMO

Subjective well-being influences mental and physical health. Fortunately, interventions exist to improve people's subjective well-being. Emotion regulation and self-compassion are two transdiagnostic factors that impact mental health and have been separately shown to be associated with subjective well-being. However, their combined relationship with subjective well-being has not yet been examined. To address this gap, the current novel study aimed to determine if there is a combined relationship between self-compassion, emotion regulation, and dimensions of subjective well-being cross-sectionally in adults living in the United States. Participants (n = 559; 50% female; Mage = 57.70 years) completed an online survey via Prime Panels from CloudResearch, capturing their responses on the interested constructs. Analyses showed that emotion regulation significantly mediated the relationships between self-compassion and various subjective well-being dimensions, specifically, positive affect (d = 0.32), negative affect (d = 1.17), and eudemonic well-being (d = 0.79). Our findings have both clinical and research implications.

7.
Autism Adulthood ; 5(4): 450-456, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38116054

RESUMO

Background: A strong autistic identity can help to support mental well-being, reduce anxiety and depression, increase self-esteem, and strengthen a shared community for autistic people. Autistic people are regularly faced with a decision to disclose their autistic identity to others and report a range of experiences after disclosure. The purpose of this brief report was to examine the association between identity and disclosure decisions in a sample of autistic adults to gather preliminary evidence justifying future research. Specifically, we were interested in learning more about how autistic identity is associated with one's approach to disclosure, while also exploring associations with other identities such as ethnic, gender, sexual, and religious identity. Methods: Participants (N = 111) completed an online questionnaire about their intersecting identities and their approach to disclosure. The research team that conducted this study was composed of both autistic and nonautistic researchers. Results: Results demonstrated that participants who felt their autistic identity and sexual identity were highly important also reported frequent disclosure of being autistic. Religious, gender, and ethnic identity were not associated with one's disclosure decisions or their disclosure outcomes. Conclusion: Overall, the results of this study emphasize the link between autistic and sexual identities and autism disclosure, but more research in this space is needed to better support the wider autism community.


Why is this an important issue?: Autistic identity is when a person feels a connection to others who are autistic, or to the larger autistic community. Disclosure, or sharing being autistic, is a complex decision that can have a significant impact on an autistic person's life. Both disclosure and autistic identity can be linked to the quality of life for many autistic adults. What was the purpose of this study?: We wanted to know whether autistic identity and disclosure were connected. We wondered whether people who felt a stronger sense of autistic identity would be more likely to share that they were autistic with other people. We also studied other identities such as religious identity, sexual identity, and gender identity­to see whether they were also connected to a person's autism disclosure decisions. What did the researchers do?: We used an online survey to ask 111 autistic adults about their identity and their autism disclosure decisions. The research team that conducted this study included both autistic and nonautistic researchers. What were the results of the study?: Autistic participants in our study who felt their autistic identity and sexual identity were highly important also told us they disclosed their autistic identity often to others in their life. Other identities, such as religious identity and ethnic identity, did not seem to relate to a person's autism disclosure in our study. What do these findings add to what was already known?: This research is the start of what we know about the connection between the identities of an autistic person and their disclosure decisions. Preliminary research like this study helps to show a reason for more research on this topic to increase knowledge and acceptance. What are potential weaknesses in the study?: This study does not cover the experiences of all autistic people, only those who could use technology to complete an online survey. Also, the design of the study only allows us to conclude that disclosure and identity are related, but we cannot yet say whether one influences the other. How will these findings help autistic adults now or in the future?: This research can help to justify additional investigations into this topic and demonstrate the importance of listening to autistic voices to understand their experiences with disclosure and how they may be influenced by their identities. For practitioners such as educators or therapists who work with autistic adults, this research can lead to knowledge that supports mental well-being.

8.
Autism Adulthood ; 5(4): 389-400, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38116059

RESUMO

Background: Despite a recent surge in literature contributing to our understanding of autistic individuals' disclosure experiences, the findings remain mixed. Research based on autistic people's perspective often indicates negative outcomes, while research that focuses on nonautistic perspectives is more positive. In addition, no disclosure study has used ecologically valid research methods, which help to reduce the risk of memory biases and are more representative of real-world experiences. The aim of this research was to capture outcomes from real-world disclosure opportunities as reported by a diverse range of autistic adults. Methods: Thirty-six autistic adults reported their disclosure opportunities through experience sampling methodology (58% female, 28% male, and 14% nonbinary), multiple times per day or week for 2 months. Importantly, we embedded coproduction from conception to dissemination, ensuring that the outputs are relevant and beneficial for the autistic community. Results: In total, participants recorded 231 disclosure opportunities (M = 6.42, SD = 4.83). Two-thirds of opportunities (n = 153) were categorized as disclosure, where the participants decided to share they were autistic, and 33.8% (n = 78) were labeled nondisclosure, where the participants decided not to share that they were autistic. Qualitative thematic analysis of open responses resulted in five themes that illustrated the thought processes during disclosure opportunities, the reactions of others, and reflections following disclosure for autistic adults in our study. Conclusion: These findings show that disclosure decisions and outcomes are complex and are influenced by both internal and external factors. Both support for autistic adults navigating this process and knowledge for nonautistic individuals on the experiences of their autistic friends, family, and community members will help to alleviate negative experiences and improve the mental well-being of autistic adults who face these decisions daily.


Why is this an important issue?: Disclosure is choosing to tell someone that you are autistic. Nondisclosure is choosing not to tell someone you are autistic. This can be difficult for many people and can have a significant impact on their life. What was the purpose of this study?: We wanted to explore disclosure opportunities for autistic people. We wanted to know what these experiences looked like over 2 months and on a daily basis. What did the researchers do?: The research team asked autistic adults to complete a survey through a smartphone application every time they considered sharing that they were autistic over 2 months. The questions asked participants about their thoughts, feelings, and behaviors right after the experience. What were the results of the study?: Our participants shared 231 disclosure opportunities with us over 2 months. Some people shared no experiences, while others shared up to 19 experiences. On average, people shared six experiences. People told us how these opportunities went, and we found five common threads ("themes") across their experiences. First, when deciding whether to disclose or not, autistic people considered how safe they felt in their environment and with the people around them. Autistic people often thought about what they were hoping to gain by disclosing, and if there was nothing to gain, they decided against it. We learned that disclosure takes a lot of energy. We also learned that other people responded to disclosure in positive, neutral, and negative ways across all contexts. Finally, we found that our participants tried to learn from their experiences before the next time they thought about disclosure. What do these findings add to what was already known?: Our findings were similar to previous research that explored how complex autistic disclosure is. However, by gathering information in real time (instead of relying on recall), we learned that a decision to disclose is not only weighing up personal advantages and disadvantages, but also takes into consideration how safe the person feels in a particular environment and how much energy they feel they have at the time. We also learned that sometimes people do not disclose because they are worried about how someone might respond, but other times they simply feel there is no benefit to disclosure. What are the potential weaknesses in the study?: We understand that the experiences of our participants may not apply to all autistic people. Also, because participants had to use a computer or smartphone to be in the study, the findings may be different for individuals who were not able to participate. How will these findings help autistic adults now or in the future?: The findings help us to listen to autistic voices and learn about their experiences. We have used the results to make resource guides. This includes a guide for autistic people (including an easy English version) and a guide for nonautistic people. These resource guides can be found within the Supplementary Data, on our research website, or by getting in touch with the authorship team.Link to "a guide for autistic people" https://www.autismspectrum.org.au/uploads/documents/Research/Disclosure-opportunities-resource-guide-for-Autistic-people-Easy-English.pdf Link to "easy English version" https://www.autismspectrum.org.au/uploads/documents/Research/Disclosure-opportunities-resource-guide-for-Autistic-people_2022-12-12-005526_vgvt.pdf Link to "non-autistic people" https://www.autismspectrum.org.au/Supporting-Autistic-people-who-may-want-to-disclose.

9.
J Adv Nurs ; 2023 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-38018027

RESUMO

BACKGROUND: It is essential to assist individuals with a mental illness who have achieved clinical recovery in their personal recovery. Understanding the relationship between self-stigma and social support and the effects on perceived recovery can be valuable for clinical professionals in helping patients lead meaningful lives. AIM: To examine the serial mediating roles of social support and perceived hope in self-stigma and the effects on perceived recovery. DESIGN: A cross-sectional study. METHODS: The study was conducted from September 2019 to June 2020. One hundred and fifty-seven patients with schizophrenia in seven chronic rehabilitation wards were enrolled. Each patient had a Positive and Negative Syndrome Scale score ≤ 60 points, and they regularly participated in occupational rehabilitation. Research tools included demographic data, the Internalized Stigma of Mental Illness Scale (ISMIS), Multidimensional Scale of Perceived Social Support (MSPSS), Herth Hope Index (HHI), and Perceived Recovery Inventory (PRI). IBM SPSS 24.0 was used to analyse the data. Pearson correlation was used to analyse the relationships between variables, and models 4 and 6 of PROCESS macro V3.4 for SPSS were used to examine the mediation model. RESULTS: The results indicated that self-stigma and perceived recovery in patients with schizophrenia are negatively correlated, that peer support and perceived hope mediate the relationship between them, and that peer support and perceived hope also have a statistically significant serial mediating effect. CONCLUSION: The serial mediation effect of peer support and perceived hope on the relationship between self-stigma and perceived recovery was statistically significant in this study. IMPACT: This research delves into strategies to assist psychiatric patients in reducing self-stigma and achieving recovery. The findings underscore the heightened significance of peer support for patients in rehabilitative wards and offer valuable insights for medical staff. REPORTING METHOD: STROBE checklist. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.

10.
Autism Adulthood ; 5(3): 335-342, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37663445

RESUMO

Background: Emotion regulation is one of the key factors that influence mental health outcomes in autistic and nonautistic populations. Recent research has also identified self-compassion as a negative correlate of depression and positive correlate of psychological well-being in autistic adults. Empirical evidence from the general population supports the notion that being kind and compassionate toward oneself during stressful and difficult moments can help with one's ability to regulate negative emotions, which then has flow-on effects on mental health outcomes. However, the inter-relationship between self-compassion, emotion regulation, and mental health has not been examined in autistic samples. Therefore, the aim of this study was to determine if emotion regulation mediates the relationship between self-compassion and anxiety or depression in a sample of autistic adults. Methods: Participants were 153 adults (meanage = 35.70, standard deviationage = 12.62) who had either self-reported a clinical diagnosis of autism spectrum disorder or self-identified as autistic. They completed an online survey capturing self-compassion, emotion regulation, anxiety, and depression. We hypothesized that emotion regulation would mediate the relationship between self-compassion and anxiety or depression, and self-compassion would not mediate the relationship between emotion regulation and anxiety or depression. Results: As predicted, only emotion regulation mediated the relationship between self-compassion and mental health outcomes. Self-compassion did not mediate the relationship between emotion regulation and mental health outcomes. Conclusion: This study provides preliminary evidence for the role that self-compassion plays in improving emotion regulation and mental health in autistic adults. If this mechanism of emotion regulation mediating the relationship between self-compassion and mental health is consistently found in future studies, then it would be helpful for future research to examine the clinical benefits of including a self-compassion component in emotion regulation interventions to improve mental health outcomes of autistic adults.


Why is this an important issue?: Many autistic individuals are diagnosed with mental illnesses such as anxiety or depression. Having a mental illness leads to negative consequences such as feelings of loneliness and sleep problems. Research findings show that improving autistic people's ability to regulate emotions can reduce symptoms of mental illnesses. Being compassionate toward ourselves during stressful and difficult moments can help us better regulate our negative emotions such as anger, sadness, and fear. Better emotion regulation then improves mental health. Research in the general population supports this proposal. But no research has studied the relationship between self-compassion, emotion regulation, and mental health in autistic adults. What was the purpose of this study?: This study aims to look at the relationship between self-compassion, emotion regulation, and mental health in a sample of autistic adults. What did the researchers do?: We designed an online survey and asked autistic adults to complete this survey. Several autism and autistic organizations around the world helped us spread the word about this study (we are grateful for their support!). The survey contained questions capturing people's self-compassion levels, emotion regulation difficulties, and symptoms of anxiety and depression. One hundred and fifty-three autistic adults completed the survey. These participants either self-reported a diagnosis of autism or self-identified as autistic. What were the results of the study?: We found that autistic adults with higher levels of self-compassion had better emotion regulation and fewer symptoms of anxiety and depression. What do these findings add to what was already known?: Researchers and clinicians have designed various treatments to improve autistic people's emotion regulation. And we know that some of these treatments also improve mental health. We need to identify the components that should be included in the treatments to make them most effective. If future research continues to find this relationship between self-compassion, emotion regulation, and mental health, then adding a self-compassion component to emotion regulation treatments may be helpful. What are potential weaknesses in the study?: This study has several weaknesses: Online survey design­we could not conduct diagnostic assessments to confirm the participant's autism diagnosis. But we have used a questionnaire called the Autism Spectrum Quotient; all participants who self-identified as autistic met the cutoff for autism.Data collection­we collected data from participants at one point, which meant we could not identify the direction of the relationships between variables.Gender of autistic people­a larger proportion of our participants were women, which does not match the typical autism gender ratio of 1:4 (female:male). How will these findings help autistic adults now or in the future?: We hope this study will start the conversation on the relevance of increasing self-compassion for improving emotion regulation and mental health in autistic adults. Therefore, this study may inform the design of future interventions for improving autistic adults' emotion regulation and mental health.

11.
Autism ; : 13623613231196085, 2023 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-37665058

RESUMO

LAY ABSTRACT: Researchers have found the way people feel about their financial situation is related to their quality of life. We know that many autistic people find it hard to find a job. And for those autistic people who have a job, they are often underpaid. Not having a job or being underpaid often means having low income. Having low income is likely to influence how autistic people feel about their financial situation. However, no research has looked at these issues for autistic people. This is the first study that helps us learn more about what autistic adults think about their financial situation. We looked at autistic people's thoughts on this issue compared to people from the general Australian population. We also looked at what things might impact how autistic people feel about their financial situation-which might be how much money they earn, what they do with that money, and their mental health. Many autistic adults felt they were struggling with financial wellbeing and this was connected both to the level of their income and how they said they managed their money. Those who were able to save and not borrow for everyday expenses reported feeling a greater sense of financial wellbeing. Concrete changes might help to improve autistic people's financial wellbeing. We need to investigate how we can help autistic people find and keep well-paying jobs. And we need to work out the best ways of equipping autistic people with the skills they need in financial matters.

12.
Autism ; : 13623613231192133, 2023 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-37606257

RESUMO

LAY ABSTRACT: Autism disclosure - that is sharing their autism diagnosis or identity with a person or people - is a difficult decision for many autistic people. While telling people they are autistic can be positive and helpful, it can also create a lot of problems. What we have learnt is that disclosure is really complicated. Rather than asking research participants questions about what might happen, we looked at what people were saying on public social media posts (Reddit and Twitter) about what did happen. We used three years of posts that were related to autism disclosure from a wide range of adults (autistic and non-autistic). Four main ideas were created from our data, with the key finding being that society does not understand autism. This lack of understanding creates problems for autistic people in work, dating, healthcare and mental health. The remaining ideas were that autistic people should have privacy and be treated with respect, that autistic representation can help society and that non-autistic people need to do more to help autistic people. Our findings support that society needs to do more through autism advocacy, better media representation and more public role models. Increasing the accuracy of understanding of autism across society will mean that autistic people can feel safer to disclose if they want to.

13.
Mov Disord ; 38(9): 1750-1755, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37394769

RESUMO

OBJECTIVES: To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance. METHODS: Multiplex ligation-dependent probe amplification (MLPA), whole-exome sequencing (WES), and RNA sequencing (RNA-seq) of peripheral blood leukocytes were performed. Reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing were used to characterize target regions of SPAST. RESULTS: A 121-bp AluYb9 insertion with a 30-bp poly-A tail flanked by 15-bp direct repeats on both sides was identified in the edge of intron 16 in SPAST that segregated with the disease phenotype. CONCLUSIONS: We identified an intronic AluYb9 insertion inducing splicing alteration in SPAST causing pure HSP phenotype that was not detected by routine WES analysis. Our findings suggest RNA-seq is a recommended implementation for undiagnosed cases by first-line diagnostic approaches. © 2023 International Parkinson and Movement Disorder Society.


Assuntos
Paraplegia Espástica Hereditária , Humanos , Paraplegia Espástica Hereditária/genética , Paraplegia Espástica Hereditária/diagnóstico , Espastina/genética , Adenosina Trifosfatases/genética , Fenótipo , Íntrons/genética , Mutação
14.
J Environ Manage ; 335: 117603, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-36893720

RESUMO

Acetaminophen (Apap) is widely used and is known to form toxic haloacetamides (HAcAms) during chlorination. Metformin (Met) is a typical medication with usage much higher than that of Apap and its ubiquitous presence in the environment is known. The objective of this study was to investigate the effects of Met which contains multiple amino groups potentially joining reactions and different chlorination methods on HAcAm formation from Apap. In addition, a major drinking water treatment plant (DWTP) using the largest river in southern Taiwan was sampled to study the influence of Apap in a DWTP on the HAcAm formation. Results showed increasing dichloroacetamide (DCAcAm) molar yields of Apap at a Cl/Apap molar ratio of 5 during chlorination (0.15%) and two-step chlorination (0.03%). HAcAms were formed by the chlorine substitution of hydrogen on the methyl group in Apap followed by the cleavage of the bonding between nitrogen and aromatic. While a high Cl/Apap ratio during chlorination led to reactions between chlorine and HAcAms formed decreasing the HAcAm yields, the two-step chlorination further reduced the HAcAm formation during chlorination by a factor of 1.8-8.2. However, Met which limitedly formed HAcAms increased the DCAcAm yields of Apap by 228% at high chlorine dosages during chlorination and by 244% during two-step chlorination. In the DWTP, trichloroacetamide (TCAcAm) formation was important. The formation was positively correlated with NH4+, dissolved organic carbon (DOC), and specific ultraviolet absorbance (SUVA). DCAcAm dominated in the presence of Apap. The DCAcAm molar yields were 0.17%-0.27% and 0.08%-0.21% in the wet and dry seasons, respectively. The HAcAm yields of Apap in the DWTP were limitedly changed between different locations and seasons. Apap could be one important cause for HAcAm formation in a DWTP, as the presence of other pharmaceuticals such as Met possibly worsens the situation in chlorine applications.


Assuntos
Desinfetantes , Água Potável , Metformina , Poluentes Químicos da Água , Purificação da Água , Acetaminofen , Cloro , Purificação da Água/métodos , Halogenação , Preparações Farmacêuticas , Poluentes Químicos da Água/análise , Desinfecção
15.
Virol J ; 20(1): 10, 2023 01 17.
Artigo em Inglês | MEDLINE | ID: mdl-36650505

RESUMO

BACKGROUND: To investigate the mechanism of RNA silencing suppression, the genetic transformation of viral suppressors of RNA silencing (VSRs) in Arabidopsis integrates ectopic VSR expression at steady state, which overcomes the VSR variations caused by different virus infections or limitations of host range. Moreover, identifying the insertion of the transgenic VSR gene is necessary to establish a model transgenic plant for the functional study of VSR. METHODS: Developing an endogenous AGO1-based in vitro RNA-inducing silencing complex (RISC) assay prompts further investigation into VSR-mediated suppression. Three P1/HC-Pro plants from turnip mosaic virus (TuMV) (P1/HC-ProTu), zucchini yellow mosaic virus (ZYMV) (P1/HC-ProZy), and tobacco etch virus (TEV) (P1/HC-ProTe) were identified by T-DNA Finder and used as materials for investigations of the RISC cleavage efficiency. RESULTS: Our results indicated that the P1/HC-ProTu plant has slightly lower RISC activity than P1/HC-ProZy plants. In addition, the phenomena are consistent with those observed in TuMV-infected Arabidopsis plants, which implies that HC-ProTu could directly interfere with RISC activity. CONCLUSIONS: In this study, we demonstrated the application of various plant materials in an in vitro RISC assay of VSR-mediated RNA silencing suppression.


Assuntos
Arabidopsis , Potyvirus , Interferência de RNA , Arabidopsis/genética , Arabidopsis/metabolismo , Proteínas Virais/genética , Proteínas Virais/metabolismo , Potyvirus/genética , Nicotiana , Doenças das Plantas
16.
Chem Rev ; 123(1): 31-72, 2023 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-36317983

RESUMO

The human microbiome is composed of a collection of dynamic microbial communities that inhabit various anatomical locations in the body. Accordingly, the coevolution of the microbiome with the host has resulted in these communities playing a profound role in promoting human health. Consequently, perturbations in the human microbiome can cause or exacerbate several diseases. In this Review, we present our current understanding of the relationship between human health and disease development, focusing on the microbiomes found across the digestive, respiratory, urinary, and reproductive systems as well as the skin. We further discuss various strategies by which the composition and function of the human microbiome can be modulated to exert a therapeutic effect on the host. Finally, we examine technologies such as multiomics approaches and cellular reprogramming of microbes that can enable significant advancements in microbiome research and engineering.


Assuntos
Microbiota , Humanos , Tecnologia
17.
J Autism Dev Disord ; 53(3): 1066-1081, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35904649

RESUMO

Self-compassion is a gentle way of relating to oneself, linked to a host of mental health benefits in non-autistic people. Although many autistic individuals report high anxiety and depression symptoms, no research to-date has examined the self-compassion experiences of autistic individuals and determined if self-compassion is associated with psychopathology. Therefore, the purpose of the current study was to address this research gap. The participants (153 autistic and 93 non-autistic adults) completed on online survey and 11 autistic participants were also interviewed. Autistic participants reported significantly lower self-compassion than non-autistic adults, and in both groups, those with higher self-compassion reported higher psychological wellbeing and lower depression symptoms. Demographic predictors of self-compassion were identified. These findings have both clinical and research implications.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Adulto , Humanos , Saúde Mental , Autocompaixão , Transtorno Autístico/psicologia , Ansiedade/psicologia , Empatia
18.
Eur J Nutr ; 62(2): 771-782, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36261730

RESUMO

PURPOSE: Fruit intake is beneficial to several chronic diseases, but controversial in diabetes. We aimed to investigate prospectively the associations of whole fresh fruit intake with risk of incident type 2 diabetes (T2D) in subjects with different glucose regulation capacities. METHODS: The present study included 79,922 non-diabetic participants aged ≥ 40 years from an ongoing nationwide prospective cohort in China. Baseline fruit intake information was collected by a validated food frequency questionnaire. Plasma HbA1c, fasting and 2 h post-loading glucose levels were measured at both baseline and follow-up examinations. Cox proportional hazards models were used to calculate hazard ratio (HR) and 95% confidence intervals (CI) for incident diabetes among participants with normal glucose tolerance (NGT) and prediabetes, after adjusted for multiple confounders. Restricted cubic spline analysis was applied for dose-response relation. RESULTS: During a median 3.8-year follow-up, 5886 (7.36%) participants developed diabetes. Overall, we identified a linear and dose-dependent inverse association between dietary whole fresh fruit intake and risk of incident T2D. Each 100 g/d higher fruit intake was associated with 2.8% lower risk of diabetes (HR 0.972, 95%CI [0.949-0.996], P = 0.0217), majorly benefiting NGT subjects with 15.2% lower risk (HR 0.848, 95%CI [0.766-0.940], P = 0.0017), while not significant in prediabetes (HR 0.981, 95%CI 0.957-4.005, P = 0.1268). Similarly, the inverse association was present in normoglycemia individuals with a 48.6% lower risk of diabetes when consuming fruits > 7 times/week comparing to those < 1 time/week (HR 0.514, 95% CI [0.368-0.948]), but not in prediabetes (HR 0.883, 95% CI [0.762-1.023]). CONCLUSION: These findings suggest that higher frequency and amount of fresh fruit intake may protect against incident T2D, especially in NGT, but not in prediabetes, highlighting the dietary recommendation of higher fresh fruit consumption to prevent T2D in normoglycemia population.


Assuntos
Diabetes Mellitus Tipo 2 , Estado Pré-Diabético , Humanos , Diabetes Mellitus Tipo 2/epidemiologia , Frutas , Estudos Prospectivos , Incidência , Glucose , Fatores de Risco
19.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(11): 1266-1268, 2022 Nov 15.
Artigo em Chinês | MEDLINE | ID: mdl-36398554

RESUMO

A 7-day-old male neonate was admitted due to testing positive for SARS-CoV-2. The neonate was born through cesarian section at 40 weeks and 2 days of gestation. His mother was diagnosed with coronavirus disease 2019 (COVID-19) caused by Omicron variant infection 1 day before delivery. The neonate was separated from his mother after birth and was taken care of by his father. Three days after the neonate was born, his father was also diagnosed with COVID-19. The neonate was diagnosed with COVID-19 on day 7 of life. The neonate presented with hyperpyrexia, dyspnea, hypoxia, and feeding difficulties, and the chest CT showed the coexistence of consolidation and ground glass-like changes mainly located below the posterior pleura. He was given symptomatic support treatment such as low flow oxygen therapy and posture management after admission. He was cured and discharged after 10 days of hospitalization. This is the first reported case of neonatal severe COVID-19 caused by Omicron variant infection in China. It is necessary to take appropriate protective measures for the neonate to prevent infection when the mother or caregiver of the neonate is a suspected or confirmed cases of COVID-19.


Assuntos
COVID-19 , Complicações Infecciosas na Gravidez , Recém-Nascido , Gravidez , Feminino , Humanos , Masculino , SARS-CoV-2 , Hospitalização , Mães
20.
Front Med (Lausanne) ; 9: 935643, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36325391

RESUMO

Background: Dexmedetomidine has been documented to reduce the dose of both intrathecal local anesthetic during cesarean delivery, and the concentration of ropivacaine needed for inducing analgesia during labor. However, few studies have compared adjuvant dexmedetomidine to fentanyl on how they impact the dose of ropivacaine required during labor. The aim of the current study was to evaluate the efficacy of epidural dexmedetomidine at doses of 0.3, 0.4, or 0.5 and 2 µg/ml of fentanyl (the traditional clinical concentration), when added to epidural 0.125% ropivacaine. Methods: This was a randomized, double-blinded study that comprised one hundred eighty-eight patients, allocated into four groups receiving either epidural fentanyl at 2 µg/ml, or dexmedetomidine at 0.3, 0.4, or 0.5 µg/ml for labor analgesia. The primary outcome was the amount of ropivacaine necessary per hour. Secondary outcomes included visual analogue pain scale (VAS), motor block (Bromage Scale), side effects, patient satisfaction, and neonatal outcomes. Results: At the completion of the study, data from 165 participants were analyzed. The mean hourly amount of epidural ropivacaine administered was 16.2 ± 3.3, 14.0 ± 3.1, 13.1 ± 3.7 and 12.1 ± 2.5 ml/h in the 2 µg/ml fentanyl group, and the 0.3, 0.4 and 0.5 µg/ml dexmedetomidine groups, respectively. There was a significant difference among groups in the mean hourly consumption of epidural ropivacaine (P < 0.0001 for 1 way ANOVA). The frequency of PCEA (patient-controlled epidural analgesia) was significantly higher in the fentanyl group than in the three dexmedetomidine groups (P < 0.001), and similar among the dexmedetomidine groups. The mean values of the VAS among all groups were similar over time, P > 0.05. The incidence of pruritus in the fentanyl group was 17.5%, whereas no patient experienced pruritus in any of the dexmedetomidine groups, P < 0.0001. Conclusion: The study demonstrated that epidural dexmedetomidine (0.3 and 0.4 µg/ml) was superior to standard dose epidural fentanyl in reducing the mean hourly amount of ropivacaine administered, and minimizing opioid-related side effects. Further large and multicenter studies would be necessary to confirm the benefits of dexmedetomidine, and potentially serve as an alternative to opioids for routine use in labor analgesia. Clinical trial registration: [http://www.chictr.org.cn/showproj.aspx?proj=62846], identifier [ChiCTR2000039067].

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