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1.
Mol Autism ; 15(1): 20, 2024 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-38745228

RESUMO

BACKGROUND: Do autistic people share the same moral foundations as typical people? Here we built on two prominent theories in psychology, moral foundations theory and the empathizing-systemizing (E-S) theory, to observe the nature of morality in autistic people and systemizers. METHODS: In dataset 1, we measured five foundations of moral judgements (Care, Fairness, Loyalty, Authority, and Sanctity) measured by the Moral Foundations Questionnaire (MFQ) in autistic (n = 307) and typical people (n = 415) along with their scores on the Empathy Quotient (EQ) and Systemizing Quotient (SQ). In dataset 2, we measured these same five foundations along with E-S cognitive types (previously referred to as "brain types") in a large sample of typical people (N = 7595). RESULTS: Autistic people scored the same on Care (i.e., concern for others) as typical people (h1). Their affective empathy (but not their cognitive empathy) scores were positively correlated with Care. Autistic people were more likely to endorse Fairness (i.e., giving people what they are owed, and treating them with justice) over Care (h2). Their systemizing scores were positively correlated with Fairness. Autistic people or those with a systemizing cognitive profile had lower scores on binding foundations: Loyalty, Authority, and Sanctity (h3). Systemizing in typical people was positively correlated with Liberty (i.e., hypervigilance against oppression), which is a sixth moral foundation (h4). Although the majority of people in all five E-S cognitive types self-identified as liberal, with a skew towards empathizing (h5), the percentage of libertarians was highest in systemizing cognitive types (h6). E-S cognitive types accounted for 2 to 3 times more variance for Care than did sex. LIMITATIONS: Our study is limited by its reliance on self-report measures and a focus on moral judgements rather than behavior or decision-making. Further, only dataset 2 measured political identification, therefore we were unable to assess politics in autistic people. CONCLUSIONS: We conclude that some moral foundations in autistic people are similar to those in typical people (despite the difficulties in social interaction that are part of autism), and some are subtly different. These subtle differences vary depending on empathizing and systemizing cognitive types.


Assuntos
Transtorno Autístico , Empatia , Princípios Morais , Humanos , Masculino , Feminino , Transtorno Autístico/psicologia , Adulto , Adulto Jovem , Inquéritos e Questionários , Adolescente , Pessoa de Meia-Idade
2.
Cureus ; 16(3): e55899, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38601402

RESUMO

Introduction Mobile applications (apps) for exercise prescription may enhance communication between healthcare providers and patients while addressing common barriers to exercise among people with osteoarthritis. However, little is known about preferences and barriers to the use of mobile apps by physical therapists or people aging with osteoarthritis. Therefore, we aimed to examine physical therapist and patient perspectives on mobile apps to support physical therapist-prescribed home exercise for people with osteoarthritis. Methods Eighteen physical therapists and 17 individuals with a history of physical therapy for osteoarthritis participated in the study. Focus groups (n = 6, three each with physical therapists and patients) were conducted to gather perspectives on three commercially available mobile apps designed for physical therapy exercise prescription. Semi-structured questions assessed feature preferences, ease of use, exercise completion support, clinical feasibility, and potential barriers and facilitators to using the apps. Recordings of the focus groups were transcribed verbatim. The study team iteratively coded transcripts using thematic analysis. Results Perspectives of patients and physical therapists intersected but differed on the mobile apps. All patients preferred video exercise prescription over traditional methods and both patients and therapists predicted challenges and opportunities with mobile communication. Four themes emerged: accountability, data-driven, communication boost, and duality of technology. Facilitators of home exercise through mobile apps included exercise tracking, feedback loop, personalization, and the potential for reduced in-person visits. Barriers included technological challenges, complex interface design, lack of universal applicability, and security concerns. Conclusion Mobile app technology has the potential to support exercise adherence for people with osteoarthritis. However, patients' and therapists' perspectives differ and highlight numerous challenges that limit the universal clinical adoption of this technology. While physical therapists acknowledged the potential to improve the rehabilitation experience with mobile apps, there was concern about reimbursement and time constraints in the current fee-for-service environment.

3.
BMC Psychiatry ; 24(1): 319, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38658877

RESUMO

BACKGROUND: The underlying neurobiology of the complex autism phenotype remains obscure, although accumulating evidence implicates the serotonin system and especially the 5HT2A receptor. However, previous research has largely relied upon association or correlation studies to link differences in serotonin targets to autism. To directly establish that serotonergic signalling is involved in a candidate brain function our approach is to change it and observe a shift in that function. We will use psilocybin as a pharmacological probe of the serotonin system in vivo. We will directly test the hypothesis that serotonergic targets of psilocybin - principally, but not exclusively, 5HT2A receptor pathways-function differently in autistic and non-autistic adults. METHODS: The 'PSILAUT' "shiftability" study is a case-control study autistic and non-autistic adults. How neural responses 'shift' in response to low doses (2 mg and 5 mg) of psilocybin compared to placebo will be examined using multimodal techniques including functional MRI and EEG. Each participant will attend on up to three separate visits with drug or placebo administration in a double-blind and randomized order. RESULTS: This study will provide the first direct evidence that the serotonin targets of psilocybin function differently in the autistic and non-autistic brain. We will also examine individual differences in serotonin system function. CONCLUSIONS: This work will inform our understanding of the neurobiology of autism as well as decisions about future clinical trials of psilocybin and/or related compounds including stratification approaches. TRIAL REGISTRATION: NCT05651126.


Assuntos
Transtorno Autístico , Encéfalo , Imageamento por Ressonância Magnética , Psilocibina , Adolescente , Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Transtorno Autístico/tratamento farmacológico , Encéfalo/efeitos dos fármacos , Encéfalo/metabolismo , Encéfalo/fisiopatologia , Estudos de Casos e Controles , Método Duplo-Cego , Eletroencefalografia , Alucinógenos/farmacologia , Alucinógenos/uso terapêutico , Psilocibina/uso terapêutico , Psilocibina/farmacologia , Receptor 5-HT2A de Serotonina/efeitos dos fármacos , Receptor 5-HT2A de Serotonina/metabolismo , Serotonina/metabolismo , Ensaios Clínicos Controlados Aleatórios como Assunto
4.
Ann Surg ; 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38437474

RESUMO

OBJECTIVE: To identify factors related to research success for academic surgeons. SUMMARY BACKGROUND DATA: Many recognize mounting barriers to scientific success for academic surgeons, but little is known about factors that predict success for individual surgeons. METHODS: A phase 1 survey was emailed to department chairpersons at highly funded US departments of surgery. Participating chairpersons distributed a phase 2 survey to their faculty surgeons. Training- and faculty-stage exposures and demographic data were collected and compared with participant-reported measures of research productivity. Five primary measures of productivity were assessed including number of grants applied for, grants funded, papers published, first/senior author papers published, and satisfaction in research. RESULTS: Twenty chairpersons and 464 faculty surgeons completed the survey, and 444 faculty responses were included in the final analysis. Having a research-focused degree was significantly associated with more grants applied for (PhD, incidence rate ratio (IRR)=6.93; masters, IRR=4.34) and funded (PhD, IRR=4.74; masters, IRR=4.01) compared to surgeons with only clinical degrees (all P<0.01). Having a formal research mentor was significantly associated with more grants applied for (IRR=1.57, P=0.03) and higher satisfaction in research (IRR=2.22, P<0.01). Contractually protected research time was significantly associated with more grants applied for (IRR=3.73), grants funded (IRR=2.14), papers published (IRR=2.12), first/senior authors published (IRR=1.72), and research satisfaction (Odds ratio=2.15) (all P<0.01). The primary surgeon-identified barrier to research productivity was lack of protection from clinical burden. CONCLUSIONS: Surgeons pursuing research-focused careers should consider the benefits of attaining a research-focused degree, negotiating for contractually protected research time, and obtaining formal research mentorship.

5.
Am J Surg ; 2024 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-38492993

RESUMO

BACKGROUND: Pancreatic Neuroendocrine Tumors (PNETs) are indolent malignancies that often have a prolonged clinical course. This study assesses disparities in outcomes between PNET patients who live in urban (UA) and rural areas (RA). METHODS: A retrospective cohort study was performed using the US Neuroendocrine Tumor Study Group database. PNET patients with a home zip code recorded were included and categorized as RA or UA according to the Federal Office of Rural Health Policy. Overall survival (OS) was analyzed by Kaplan-Meier method, log-rank test, and logistical regression. RESULTS: Of the 1176 PNET patients in the database, 1126 (96%) had zip code recorded. While 837 (74%) lived in UA, 289 (26%) lived in RA. RA patients had significantly shorter median OS following primary PNET resection (122 vs 149 months, p â€‹= â€‹0.01). After controlling for income, local healthcare access, distance from treatment center, ASA class, BMI, and T/N/M stage, living in a RA remained significantly associated with worse OS (HR 1.60, 95%CI 1.08-2.39, p â€‹= â€‹0.02). CONCLUSION: Rural patients have significantly shorter OS following PNET resection compared to their urban counterparts.

6.
Autism Adulthood ; 6(1): 9-24, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38435325

RESUMO

Background: Autistic people with co-occurring attention deficit/hyperactivity disorder (ADHD) appear to be at heightened risk of suicide. To understand why, we explored two explanatory mechanisms from the interpersonal theory of suicide: first, that co-occurring ADHD might be associated with greater risk through greater thwarted belongingness and perceived burdensomeness and, secondly, that hyperactive/impulsive features might incur additional risk through their association with painful and provocative events, which are suggested to create "capability" for suicide. Methods: Autistic adults (n = 314) completed an online survey including measures of thwarted belongingness, perceived burdensomeness, painful and provocative events, acquired capability for suicide, and ADHD features. Creating an overall index of likely ADHD, we examined associations between likely ADHD, suicide ideation, and lifetime suicide attempts through the parallel mediators of thwarted belongingness, perceived burdensomeness, anxiety, and depression. In several models, we then examined hyperactive, impulsive, and inattentive features as predictors of exposure to painful and provocative events and subsequent capability for suicide, and examined whether these two variables, sequentially or individually, mediated an association with lifetime suicide attempts. Results: Likely ADHD was associated with past-year suicide ideation through greater depression and perceived burdensomeness, which also mediated its association with more suicide attempts. Hyperactive and impulsive features were associated with exposure to painful and provocative events and through this acquired suicide capability. Both features were associated with more numerous suicide attempts through these two mediators sequentially, and through exposure to painful and provocative events alone. Conclusions: These data suggest that suicidality in autistic people with ADHD may be partially related to perceived burdensomeness and to acquired suicide capability after exposure to painful and provocative events. However, as we observed a pathway to suicidality associated with painful and provocative events alone, it is likely that there are also other explanatory mechanisms for the influence of traumatic events on suicide risk.


Why is this an important issue?: Suicide is a leading cause of premature death in autistic people, but we still know little about why autistic people are at greater risk and how we can help. Recent findings suggest that autistic people with co-occurring attention deficit/hyperactivity disorder (ADHD) are at even higher risk, but we do not yet understand why. What was the purpose of this study?: This research examined two potential explanations for higher risk of suicide in autistic people with co-occurring ADHD. First, we expected that because these individuals are often very isolated and struggle with independence and employment, they might be more vulnerable to two risk factors for suicide: "thwarted belongingness," the feeling of being alienated from other people, and "perceived burdensomeness," the feeling that one is a burden to others. We also expected that hyperactive/impulsive features associated with ADHD might make people more likely to experience painful and dangerous events. Exposure to events like this is suggested to make people less frightened of dying by suicide and more able to attempt to end their lives. This is called "acquiring capability" for suicide. What did the researchers do?: We asked 314 autistic adults to complete an online survey including measures of thwarted belongingness, perceived burdensomeness, exposure to painful and dangerous events, and acquired capability for suicide. They also completed a scale measuring ADHD features, and symptoms of depression and anxiety. We then looked at which of these factors, if any, explained suicide risk in autistic people with co-occurring ADHD. What were the results of the study?: Our data suggest that autistic people with co-occurring ADHD might be at greater risk of suicide ideation and attempts because they are more likely to experience depression and to feel like a burden to others. We also found that people with high degrees of hyperactive/impulsive features were more likely to experience painful and dangerous events, and, therefore, had greater capability for suicide­because of this, they were more likely to have attempted suicide more times in the past. Exposure to these kinds of traumatic events also increased the risk of suicide all by itself. What do these findings add to what was already known?: Very little is known about why autistic people with co-occurring ADHD might be at even higher risk of suicide than people with either ADHD or autism alone. No studies have examined explanations for suicide in this subgroup. What are potential weaknesses in the study?: Because this study looked at a snapshot of participants' current states, we cannot be sure of the direction of relationships between variables. For example, it might be that experiences of surviving suicide attempts actually make people feel more depressed and more like a burden afterward, rather than these feelings being the risk factors that contributed to suicide attempts. How will these findings help autistic adults now or in the future?: These findings indicate feelings and experiences that are relevant to suicide risk in autistic people with co-occurring ADHD, which might thus be important to target in interventions.

7.
Prev Sci ; 25(1): 31-43, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37329411

RESUMO

Research suggests that encounters with racism are related to depression in Black youth. However, less is known about how experienced racial discrimination can influence other aspects of well-being among Black youth including their socio-emotional development and behavior. In addition, emerging literature highlights the critical ways anticipated racial discrimination may impact the emotional well-being of Black youth. To address these gaps, the current study assessed whether experienced discrimination was associated with higher levels of internalizing problems (anxiety/depression, suicidal thoughts) and lower levels of socio-emotional development (emotion regulation, prosocial behavior). We then tested whether expected discrimination contributed to similar patterns. Lastly, this study examined how age and gender moderated this relationship. Across eight schools in three communities, 1435 Black youth (56.57% female; 56.40% 10th grade) in 10th and 12th grades responded to the Youth Experience Survey. Using a series of hierarchical linear and hierarchical binary logistic regressions, results found that those who experienced racial discrimination and expected discrimination demonstrated higher internalizing problems and lower socio-emotional development; however, expected discrimination often accounted for more variance than experienced. These findings suggest the multifaceted influence both experienced and expected racial discrimination have on the well-being of Black youth and can provide important insights to community prevention systems.


Assuntos
Negro ou Afro-Americano , Motivação , Bem-Estar Psicológico , Racismo , Adolescente , Feminino , Humanos , Masculino , Emoções , Racismo/psicologia , Negro ou Afro-Americano/psicologia
8.
Prev Sci ; 25(1): 1-5, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38036727

RESUMO

The current paper serves as an introduction to this special issue, Advancing Health Equity among Black Communities, in which we provide an overview of the papers included. Specifically, we summarize the papers covered in the special issue and highlight some of the common themes. The impetus for this special issue originated from a culmination of the COVID-19 pandemic, continued murders of Black people by police officers, and an unsettling political climate (e.g., Galea & Abdalla, 2020). While the impact of individual racism has been studied extensively, the insidious and pervasive impact of structural racism is less understood. Structural racism is a system in which embedded values, practices and policies facilitate and perpetrate the continued differential treatment of people based on race and becomes an almost hidden influence on the way an institution functions. For this special issue, prevention scientists were invited to submit conceptual and empirical research reflecting their understandings of structural racism as it operates in U.S. systems (e.g., education, justice, housing, workforce) and contributes to health inequities in the lives of Black Americans. The submissions also demonstrate how prevention scientists can leverage translational science to impact policies, practices, and procedures to promote equitable and sustainable change for Black communities.


Assuntos
Negro ou Afro-Americano , Equidade em Saúde , Humanos , Racismo Sistêmico , Estados Unidos
9.
J Autism Dev Disord ; 2023 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-37934396

RESUMO

This study examined whether autistic people with siblings score higher on measures of empathy than those without siblings. Cohorts of autistic children (n = 939; mean age = 7.35 years (SD = 2.15)) and autistic adults (n = 736; mean age = 37 years (SD = 12.39)) from the Cambridge Autism Research Database (CARD) were each divided into two groups: with or without siblings. Empathy was measured using the children version of the Empathy Quotient (EQ) (parent-report) for children. For adults, the EQ (self-report version) and the Reading the Mind in the Eyes Test (RMET) were used. Contrary to the hypothesis, autistic children without siblings scored higher on EQ than those with siblings (t(283.70) = 4.20, p < .001; d = 0.50). In adults, there was no difference between autistic adults with and without siblings on both measures, but there was an interaction effect between sex and group on the RMET (f(1732) = 4.10, p = 0.04): whilst autistic males without siblings on average scored lower than females, autistic males with siblings on average performed similarly to females. Future research should investigate the possible effect of siblings on autistic males' empathy performance in a larger cohort of autistic individuals. Children's empathic abilities may be underestimated by their parents when they have siblings due to a contrast effect.

10.
Res Sq ; 2023 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-37292825

RESUMO

Background: Idiopathic subglottic stenosis (iSGS) is a rare fibrotic disease of the proximal airway affecting adult Caucasian women nearly exclusively. Life-threatening ventilatory obstruction occurs secondary to pernicious subglottic mucosal scar. Disease rarity and wide geographic patient distribution has previously limited substantive mechanistic investigation into iSGS pathogenesis. Result: By harnessing pathogenic mucosa from an international iSGS patient cohort and single-cell RNA sequencing, we unbiasedly characterize the cell subsets in the proximal airway scar and detail their molecular phenotypes. Results show that the airway epithelium in iSGS patients is depleted of basal progenitor cells, and the residual epithelial cells acquire a mesenchymal phenotype. Observed displacement of bacteria beneath the lamina propria provides functional support for the molecular evidence of epithelial dysfunction. Matched tissue microbiomes support displacement of the native microbiome into the lamina propria of iSGS patients rather than disrupted bacterial community structure. However, animal models confirm that bacteria are necessary for pathologic proximal airway fibrosis and suggest an equally essential role for host adaptive immunity. Human samples from iSGS airway scar demonstrate adaptive immune activation in response to the proximal airway microbiome of both matched iSGS patients and healthy controls. Clinical outcome data from iSGS patients suggests surgical extirpation of airway scar and reconstitution with unaffected tracheal mucosa halts the progressive fibrosis. Conclusion: Our data support an iSGS disease model where epithelial alterations facilitate microbiome displacement, dysregulated immune activation, and localized fibrosis. These results refine our understanding of iSGS and implicate shared pathogenic mechanisms with distal airway fibrotic diseases.

11.
BMJ Open ; 13(5): e070923, 2023 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-37253488

RESUMO

OBJECTIVE: Explore the experiences of patients and clinicians in rheumatology and cardiology outpatient clinics during the first year of the COVID-19 pandemic, focusing on the impact of remote consultations on interpersonal dynamics. DESIGN: Qualitative study using semistructured interviews, conducted between February and June 2021. SETTING: The rheumatology and cardiology departments of a general hospital in England, UK. PARTICIPANTS: All clinicians and a convenience sample of 100 patients in each department who had taken part in a remote consultation in the past month were invited to take part. Twenty-five interviews were conducted (13 with patients, 12 with clinicians). RESULTS: Three themes were developed through the analysis: adapting to the dynamics of remote consultations, impact on the patient's experience and impact on the clinician's experience. The majority of remote consultations experienced by both patients and clinicians had been via telephone. Both clinicians and patients found remote consultations to be more business-like and focused, with the absence of pauses restricting time for reflection. For patients with stable, well-managed conditions, remote consultations were felt to be appropriate and could be more convenient than in-person consultations. However, the loss of visual cues meant some patients felt they could not give a holistic view of their condition and limited clinicians' ability to gather and convey information. Clinicians adjusted their approach by asking more questions, checking understanding more frequently and expressing empathy verbally, but felt patients still shared fewer concerns remotely than in person; a perception with which patients concurred. CONCLUSIONS: These findings highlight the importance of ensuring, for each patient, that remote care is appropriate. Future research should focus on developing ways to support both clinicians and patients to gather and provide all information necessary during remote consultations, to enhance communication and trust.


Assuntos
COVID-19 , Cardiologia , Consulta Remota , Reumatologia , Humanos , Pandemias , Inglaterra , Instituições de Assistência Ambulatorial
12.
BMC Geriatr ; 23(1): 270, 2023 05 05.
Artigo em Inglês | MEDLINE | ID: mdl-37142989

RESUMO

OBJECTIVES: This study explored the experience of delivering care remotely among practitioners in a UK geriatric medicine clinic. METHODS: Nine semi-structured interviews were conducted with consultants (n = 5), nurses (n = 2), a speech and language and an occupational therapist, and thematically analysed. RESULTS: Four themes developed; Challenges of remote consultations; Perceived advantages of remote consultations; Disruption of involvement of family members; Impact on care staff. Participants felt that rapport and trust had been more feasible to develop remotely than they had anticipated, although this was more challenging for new patients and those with cognitive or sensory impairments. While practitioners identified advantages of remote consultations, including involving relatives, saving time, and reducing anxiety, they also experienced disadvantages such as consultations feeling like a 'production line', missing visual cues and reduced privacy. Some participants felt their professional identity was threatened by the lack of face-to-face contact, linked to feeling that remote consultations are not suitable for frail older adults or those with cognitive deficits. DISCUSSION: Staff perceived barriers to remote consultations that went beyond practical concerns, and suggest support for building rapport, involving families, and protecting clinician identity and job satisfaction may be warranted.


Assuntos
Encaminhamento e Consulta , Telefone , Humanos , Idoso , Pesquisa Qualitativa , Atenção à Saúde
13.
BMJ Open ; 13(2): e068507, 2023 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-36737096

RESUMO

INTRODUCTION: Individuals ageing with spinal cord injury (SCI) experience an accelerated trajectory of diseases and disorders, such as cardiovascular disease and diabetes, that resemble those experienced with ageing alone. Currently, an evidence-based approach toward managing this problem does not exist and therefore the purpose of this study is to determine the feasibility of conducting a high-intensity exercise intervention in individuals with acute (<6 months postinjury) SCI to improve cardiometabolic health. METHODS AND ANALYSIS: We will conduct a single-centre, two parallel-arm, randomised feasibility study of a high-intensity interval training (HIIT) intervention in individuals with acute SCI. We will enrol 40 individuals (20 intervention, 20 control) with acute SCI attending inpatient rehabilitation at Salisbury District Hospital. Participants will be randomly allocated to the intervention group (HIIT) or control group for 18 weeks. Both groups will participate in standard care throughout the duration of the study. The HIIT group only will also perform supervised HIIT exercise on an arm cycle ergometer three times per week. Over the course of the intervention, most participants will be discharged from the hospital, and at this time, an arm cycle ergometer will be installed in their home and the intervention will transition into outpatient care. We will assess cardiorespiratory fitness, glycaemic control, lipid profile and body habitus as well as qualitative assessments of acceptability at weeks 0, 9 and 18 with the primary outcome being the feasibility of a full Randomised Controlled Trial (RCT). ETHICS AND DISSEMINATION: This study will inform a longer-term, definitive, multicentre RCT to establish the impact of this exercise intervention in maintaining the cardiometabolic health of patients during the acute phase following SCI. Results will be disseminated in different formats including peer-reviewed journal articles, conference presentations and internet media, to a wide audience including clinicians, researchers and individuals with SCI. TRIAL REGISTRATION NUMBER: ISRCTN57514022.


Assuntos
Doenças Cardiovasculares , Treinamento Intervalado de Alta Intensidade , Traumatismos da Medula Espinal , Humanos , Estudos de Viabilidade , Exercício Físico , Traumatismos da Medula Espinal/complicações , Traumatismos da Medula Espinal/reabilitação , Doenças Cardiovasculares/prevenção & controle
14.
Am Surg ; 89(7): 3328-3330, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36809082

RESUMO

A 27-year-old female presented at 13 weeks' gestation with epigastric pain and anemia requiring blood and iron transfusions but no family history of gastrointestinal malignancy. Upper endoscopy revealed a giant circumferential polyp and associated hyperplastic-appearing polyps in the proximal stomach. Biopsies revealed hyperplasia with lamina propria eosinophils. She was supported with intermittent transfusions until labor was induced at 34 weeks' gestation. Total gastrectomy was performed at seven weeks post-partum. Final pathology revealed multiple hamartomatous polyps without malignancy. Her anemia resolved postoperatively. Genetic testing revealed mutation of the SMAD4 gene and Juvenile Polyposis Syndrome. JPS is caused by germline mutations in the SMAD4 or BMPR1A genes and is characterized by hamartomatous polyps in the gastrointestinal tract. While most polyps are benign, malignant transformation can occur. One should have low threshold to send patients for genetic screening when multiple polyps are found in a young patient, even without family history.


Assuntos
Polipose Intestinal , Humanos , Feminino , Adulto , Polipose Intestinal/complicações , Polipose Intestinal/diagnóstico , Polipose Intestinal/genética , Mutação , Mutação em Linhagem Germinativa , Pólipos Intestinais , Hemorragia Gastrointestinal/etiologia , Proteína Smad4/genética
15.
Mol Psychiatry ; 28(5): 2148-2157, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36702863

RESUMO

Autism is a highly heritable, heterogeneous, neurodevelopmental condition. Large-scale genetic studies, predominantly focussing on simplex families and clinical diagnoses of autism have identified hundreds of genes associated with autism. Yet, the contribution of these classes of genes to multiplex families and autistic traits still warrants investigation. Here, we conducted whole-genome sequencing of 21 highly multiplex autism families, with at least three autistic individuals in each family, to prioritise genes associated with autism. Using a combination of both autistic traits and clinical diagnosis of autism, we identify rare variants in genes associated with autism, and related neurodevelopmental conditions in multiple families. We identify a modest excess of these variants in autistic individuals compared to individuals without an autism diagnosis. Finally, we identify a convergence of the genes identified in molecular pathways related to development and neurogenesis. In sum, our analysis provides initial evidence to demonstrate the value of integrating autism diagnosis and autistic traits to prioritise genes.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtornos do Neurodesenvolvimento , Humanos , Transtorno Autístico/diagnóstico , Transtorno Autístico/genética , Fenótipo , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética
16.
Ann Surg Oncol ; 30(4): 2424-2430, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36434481

RESUMO

BACKGROUND: Radiographic calcifications and cystic morphology are associated with higher and lower tumor grade, respectively, in pancreatic neuroendocrine tumors (PNETs). Whether calcifications and/or cystic morphology could be used preoperatively to predict post-resection survival in patients with PNETs remains elusive. METHODS: Patients undergoing curative-intent resection of well-differentiated PNETs from 2000 to 2017 at eight academic institutions participating in the US Neuroendocrine Tumor Study Group were identified. Preoperative cross-sectional imaging reports were reviewed to identify the presence of calcifications and of a cystic component occupying >50% of the total tumor area. Clinicopathologic characteristics and recurrence-free survival (RFS) were compared. RESULTS: Of 981 patients studied, 18% had calcifications and 17% had cystic tumors. Tumors with calcifications were more commonly associated with Ki-67 ≥3% (47% vs. 33%; p = 0.029), lymph node metastasis (36% vs. 24%; p = 0.011), and distant metastasis (13% vs. 4%; p < 0.001). In contrast, cystic tumors were less commonly associated with lymph node metastasis (12% vs. 30%; p < 0.001). Five-year RFS after resection was most favorable for cystic tumors without calcifications (91%), intermediate for solid tumors without calcifications (77%), and least favorable for any calcified PNET (solid 69%, cystic 67%; p = 0.043). Calcifications remained an independent predictor of RFS on multivariable analysis (p = 0.043) controlling for nodal (p < 0.001) and distant metastasis (p = 0.001). CONCLUSIONS: Easily detectable radiographic features, such as calcifications and cystic morphology, can be used preoperatively to stratify prognosis in patients with PNETs and possibly inform the decision to operate or not, as well as guide the extent of resection and potential use of neoadjuvant therapy.


Assuntos
Calcinose , Tumores Neuroectodérmicos Primitivos , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Humanos , Tumores Neuroendócrinos/diagnóstico por imagem , Tumores Neuroendócrinos/cirurgia , Metástase Linfática , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/cirurgia , Estudos Retrospectivos , Pancreatectomia , Calcinose/diagnóstico por imagem , Calcinose/cirurgia , Tumores Neuroectodérmicos Primitivos/cirurgia
18.
Ann Surg ; 277(6): 938-943, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-35837953

RESUMO

OBJECTIVE: This study aimed to investigate the transparency of parental benefits available to US surgical residency applicants. BACKGROUND: Medical students prioritize work-family balance in specialty selection. Those applying to surgical residency programs also place a significant value on parental leave policies when deciding where to train. However, little is known about the amount of information that surgical training programs publicly offer to potential applicants regarding family support policies. METHODS: Publicly available websites for 264 general surgery training programs were accessed to determine the availability of information on parental benefits. Twenty-six "items of transparency" included types of leave, contract flexibility, salary, lactation, and childcare support. Programs with fewer than the median items of transparency were contacted to inquire about additional public resources. Academic programs were stratified by their associated medical school rankings in the US News & World Report. RESULTS: A total of 144 (54%) programs were academic and 214 (81.4%) had male program directors. The median number of items of transparency was 8 (29.6%). Of the 131 programs contacted, 33 (25.9%) replied, and 2 (6.1%) improved their transparency score. Academic programs associated with medical schools in the upper third of the rankings were more likely to have ≥8 items of transparency (70.8% vs. 45.6%; P =0.002). In the adjusted analysis, academic programs [odds ratio (OR): 3.44, 95% confidence interval (95% CI): 1.87-6.34], those with female program directors (OR: 2.09, 95% CI: 1.01-4.33), and those located in the Western (OR: 3.13, 95% CI: 1.31-7.45) and Southern (OR: 2.45, 95% CI: 1.21-4.98) regions of the country were more likely to have ≥8 items of transparency. CONCLUSIONS: There are significant deficits in publicly available information related to parental benefits for many surgical training programs, which may impact applicants' decision making. Attracting the most talented candidates requires programs to create and share policies that support the integration of professional and personal success.


Assuntos
Internato e Residência , Humanos , Masculino , Feminino , Políticas , Aleitamento Materno , Emprego , Pais , Licença Parental
19.
Mol Autism ; 13(1): 45, 2022 11 12.
Artigo em Inglês | MEDLINE | ID: mdl-36371252

RESUMO

BACKGROUND: Non-suicidal self-injury (NSSI) has been linked with a higher risk of suicide attempts in autistic and non-autistic people. In the general population, NSSI may confer acquired capability for suicide by eroding one's fear and avoidance of pain and death. The present study aimed to explore acquired capability as the mediator of increased suicide risk conferred by NSSI in autistic and non-autistic adults. METHODS: Autistic and non-autistic adults (n = 314, n = 312) completed an online survey exploring lifetime suicide attempts, experience with NSSI, and acquired capability for suicide. We explored relationships between lifetime incidence of NSSI and lifetime suicide attempts via three facets of acquired capability (pain tolerance, reduced fear of death, and mental rehearsal of suicide). In self-harming participants (224 autistic and 156 non-autistic), we explored whether particular types and features of NSSI might be especially associated with capability and through that with suicide: namely engagement in scratching, cutting, and self-hitting, and engaging in more numerous forms of NSSI. RESULTS: While a higher frequency of NSSI was associated with all three facets of acquired capability, only reduced fear of death and mental rehearsal of suicide mediated an indirect relationship with lifetime suicide attempts. NSSI also directly predicted more numerous suicide attempts. Autistic people tended towards reduced fear of death and mental rehearsal regardless of NSSI status. Among self-harming autistic and non-autistic participants, cutting and an increased number of NSSI behaviours were associated with lifetime suicide attempts directly and indirectly via acquired capability. In both groups, self-hitting was associated with lifetime suicide attempts only via acquired capability. LIMITATIONS: Our cross-sectional methodology negates inferences of directionality. While we controlled for age, our samples were poorly matched, with the autistic group two times older on average. The autistic sample, predominantly late-diagnosed, female and highly qualified, were unrepresentative of the whole autistic community. CONCLUSIONS: Our data suggest that acquired capability, as measured herein, is an incomplete explanation for the association between NSSI and suicide risk. A broader construct with stable and transient facets may offer greater explanatory power, but it is probable that other variables explain or provide additional means through which this association arises.


Assuntos
Comportamento Autodestrutivo , Ideação Suicida , Adulto , Humanos , Feminino , Estudos Transversais , Fatores de Risco , Comportamento Autodestrutivo/epidemiologia , Dor
20.
Autism Res ; 15(10): 1917-1928, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36053924

RESUMO

A large body of research showed that autistic people have intact emotional (affective) empathy alongside reduced cognitive empathy. However, there are mixed findings and these call for a more subtle understanding of empathy in autism. Empathic disequilibrium refers to the imbalance between emotional and cognitive empathy and is associated with a higher number of autistic traits in the typical population. Here we examined whether empathic disequilibrium predicts both the number of autistic traits and autism diagnosis. In a large sample of autistic (N = 1905) and typical individuals (N = 3009), we examined empathic disequilibrium and empathy as predictors of autistic traits and autism diagnosis, using a polynomial regression with response surface analysis. Empathy and autistic traits were measured using validated self-report questionnaires. Both empathic disequilibrium and empathy predicted linearly and non-linearly autism diagnosis and autistic traits. Specifically, a tendency towards higher emotional than cognitive empathy (empathic disequilibrium towards emotional empathy) predicted both autism diagnosis and the social domain of autistic traits, while higher cognitive than emotional empathy was associated with the non-social domain of autism. Empathic disequilibrium was also more prominent in autistic females. This study provides evidence that beyond empathy as was measured thus far, empathic disequilibrium offers a novel analytical approach for examining the role of empathy. Empathic disequilibrium allows for a more nuanced understanding of the links between empathy and autism. LAY SUMMARY: Many autistic individuals report feelings of excessive empathy, yet their experience is not reflected by most of the current literature, typically suggesting that autism is characterized by intact emotional and reduced cognitive empathy. To fill this gap, we looked at both ends of the imbalance between these components, termed empathic disequilibrium. We show that, like empathy, empathic disequilibrium is related to autism diagnosis and traits, and thus may provide a more nuanced understanding of empathy and its link with autism.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia , Transtorno Autístico/psicologia , Empatia , Feminino , Humanos , Fenótipo , Inquéritos e Questionários
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