Search Results (31)

Moralization is the process by which preferences become moral values. We investigated a practice that is changing its moral status on college campuses in the United States: affirmative consent to sexual activity. We tested whether messages given to students just before they entered a party impacted their thinking about consent in moral terms—i.e., as a clear issue, with broad consensus, and an imperative to action. At two social clubs on a college campus in 2017, we randomly assigned moralistic vs. informational messages about consent, delivered at the party’s door. At the club that had pre-existing messaging about consent, the moralistic (vs. informational) message increased students’ thinking about consent in moral terms. By contrast, in the club without prior consent messaging, the informational (vs. moralistic) pledge increased students’ thinking about consent in moral terms. We then investigated and found weak evidence for a small reduction in administrative-level student conduct complaints compared to prior and subsequent years as a result of a one-night consent message treatment unique to each of the 12 clubs hosting a party. Theoretically, our findings make progress toward understanding processes of moralization. Pragmatically, they suggest the importance of locally tailored messages that reflect and shape the values of social groups. Full article

Background: As national and international reports reveal, significant health care transition (HCT) service disparities exist for youth and young adults with intellectual and developmental disabilities (YYAs with IDD). The development of the HCT model necessitates informed perspectives from a broad constituency, including consumers and families. Parents’ retrospective perspectives of their sons’ or daughters’ HCT experiences are presented to enlarge the understanding of the service need. Methodology: Eleven parents were recruited virtually from parent support/disability advocate groups via an email distribution list of the Children’s Hospital Los Angeles University Center for Excellence in Developmental Disabilities. Parents who consented to participate were interviewed by phone using an interview guide with 11 open-ended items. Three questions focused on the barriers and facilitators associated with the HCT experience are reported. Findings: Four major themes were generated from the analysis of data gathered from parents pertaining to their sons’ or daughters’ health care transition experiences, focusing on the transfer of care. Two major themes were related to HCT barriers—Pediatric Care Contrasted with Adult-Focused Care and Transfer of Care Barriers—and two were related to HCT facilitators—Transfer of Care Facilitators and Transfer of Care Recommendations. Each of the major themes included subthemes. Conclusions: Parents openly shared their sons’ or daughters’ HCT experiences, which illuminated the scope of their challenges and the assistance received. These insights provide rich descriptions of the barriers they and their adult children faced as they proceeded with navigating new systems of health care. The reported data find support in other previously conducted studies. Full article

Inappropriate prescription patterns and polypharmacy are critical challenges facing the optimal management of schizophrenia patients, especially in regard to patient safety. Background/Objectives: The purpose of this study was to examine the relationship between patient safety and the existence of incorrect prescription patterns and/or polypharmacy in the medications prescribed to individuals with schizophrenia. This issue is addressed in a broad context, highlighting the purpose of this study. Methods: A cross-sectional study was adopted, involving a prospective analysis of the prescriptions of schizophrenia patients receiving treatment. Prescription patterns deemed inappropriate were evaluated based on evidence-based guidelines. Antipsychotic maximum allowable daily doses were calculated using the British National Formulary Maximum Daily Dose (BNFmax), an online tool. Patient safety outcomes were assessed using the Glasgow Antipsychotic Side-effect Scale (GASS). Results: A total of 198 patients diagnosed with schizophrenia and receiving treatment consented to participate in the GASS survey. A total of 116 (58.6%) males participated. The mean age of patients was 40.1 (±12.7). Thirty-one (66.2%) reported mild side effects, while 67 (33.8%) reported moderate side effects. Polypharmacy was detected in 103 (52%) patients’ prescriptions. The correlation between GASS and BNFmax was positive and statistically significant (p < 0.001). The elevation in GASS score was associated with polypharmacy prescriptions (OR 3.21; 95% CI 1.64–6.29), the presence of first-generation antipsychotics (FGAP) (OR 2.79; 95% CI 0.236–5.951), any combination of antipsychotics containing haloperidol (OR 3.22; 95% CI 1.11–9.32), and olanzapine (OR 3.46; 95% CI 1.36–8.79). Conclusions: The safety of patients with schizophrenia has been proven to be impacted by the improper use of psychotropic drugs. Following evidence-based guidelines is a cornerstone to ensuring optimal, effective, and safe patient treatment plans. Full article

Background: Fabry disease (FD) results from pathogenic GLA variants, causing lysosomal α-galactosidase A (α-GalA) deficiency and sphingolipid ceramide trihexoside (Gb3 or THC) accumulation. Disease phenotype varies widely but cardiomyopathy is commonly life-limiting. As a multisystemic disorder, FD initiates at the cellular level; however, the mechanism/s underlying Gb3-induced cell dysfunction remains largely unknown. This study established an in vitro mutation-specific model of Fabry cardiomyopathy using human-induced pluripotent stem cell (iPSC)-derived cardiomyocytes to explore underlying cell pathology. Methods: Skin biopsies from consenting Fabry patients and normal control subjects were reprogrammed to iPSCs then differentiated into cardiomyocytes. The GLA mutations in Fabry cell lines were corrected using CRISP-Cas9. Phenotypic characteristics, α-Gal A activity, Gb3 accumulation, functional status, and lipid analysis were assessed. Cardiomyocytes derived from two patients with severe clinical phenotype and genotypes, GLA^c.851T>C, GLA^{c.1193_1196del}, and their respective corrected lines, GLA^{corr c.851T>C}, GLA^{corr c.1193_1196del}, were selected for further studies. Results: Cardiomyocytes derived from individuals with FD iPSCs exhibited stable expression of cardiomyocyte markers and spontaneous contraction, morphological features of FD, reduced α-Gal A activity, and accumulation of Gb3. Lipidomic profiling revealed differences in the Gb3 isoform profile between the control and FD patient iPSC-derived cardiomyocytes. Contraction strength was unchanged but relaxation after contraction was delayed, mimicking the diastolic dysfunction typical of Fabry cardiomyopathy. Conclusions: iPSC-derived cardiomyocytes provide a useful model to explore aspects of Fabry cardiomyopathy, including disruptions in sphingolipid pathways, proteomics, and multigene expression that together link genotype to phenotype. The platform potentially offers broad applicability across many genetic diseases and offers the prospect of testing and implementation of individualised therapies. Full article

The broad aim of this introduction to a Special Issue on “Susceptibilities: Toward a Cultural Politics of Consent under Erasure” is to broach key questions and research directions that illuminate contemporary public debates about the conditions and limits of conscious intention (and consent as a byproduct thereof), which is typically treated as a “property” that can be “underdeveloped”, “given”, or “taken away”. In keeping with Jacques Derrida’s repudiation of the metaphysics of presence, the perspective animating this essay is that the psychoanalytic standpoint of the unconscious deconstructs the epistemological privilege of determinacy, consistency, and wholeness in treatments of intentional consciousness. Given Jean Laplanche’s attention to the residues of coherent ego fetishism in Sigmund Freud’s oeuvre, the former’s critique of self-sovereignty as evinced in his theorization of the “enigmatic signifier”, “primal repression”, and “afterwardsness” assumes a pivotal role in the analysis of how writers as represented here by Sarah Polley in Run Towards the Danger narrate the vicissitudes of their traumatic memories of sexual assault. Ultimately, then, the implications of this analysis will carry over to brief discussions of this Special Issue’s seven contributions by Melissa Wright, Karen McFadyen, J. Asher Godley, Madeleine Reddon, Gautam Basu Thakur, Robert Hughes, and Rebecca Saunders. Full article

ChatGPT, developed by OpenAI, is a large language model (LLM) that leverages artificial intelligence (AI) and deep learning (DL) to generate human-like responses. This paper provides a broad, systematic review of ChatGPT’s applications in healthcare, particularly in enhancing patient engagement through medical history collection, symptom assessment, and decision support for improved diagnostic accuracy. It assesses ChatGPT’s potential across multiple organ systems and specialties, highlighting its value in clinical, educational, and administrative contexts. This analysis reveals both the benefits and limitations of ChatGPT, including health literacy promotion and support for clinical decision-making, alongside challenges such as the risk of inaccuracies, ethical considerations around informed consent, and regulatory hurdles. A quantified summary of key findings shows ChatGPT’s promise in various applications while underscoring the risks associated with its integration in medical practice. Through this comprehensive approach, this review aims to provide healthcare professionals, researchers, and policymakers with a balanced view of ChatGPT’s potential and limitations, emphasizing the need for ongoing updates to keep pace with evolving medical knowledge. Full article

Background/Objectives: Malpractice in cardiovascular surgery was addressed from the forensic pathology perspective, offering reflections on risk prevention in the Italian context. Litigation and risk management in healthcare, following the Italian law on safety of care, clinical risk management and professional liability, should be viewed in an integrated manner. Methods: We conducted a narrative review on litigation data and the principal areas of complaint in Italy regarding the cardiovascular field. The aim is to discuss human, communicative, organisational, technological and regulatory factors that may play a role in this phenomenon. Results: We discuss the importance of information and consent and the management and monitoring of competences, particularly in specialised activities, given the current human capital deficit. Furthermore, we focus on the centrality of the surgical indication focusing on benefit-risk balance in light of clinical guidelines and team-based evaluation, such as by an emergency heart team, to better tailor care to patients. At the facility level, the minimum volume of activity and the requirements for human resources, specialisations, technologies and organisation standards needed for health activity authorisation are highlighted as foundational to risk prevention. Furthermore, we discussed the availability of the minimum diagnostic and care tools in compliance with guidelines and the role of company clinical and organisational protocols. Conclusions: In the surgical, time-sensitive, highly specialised and technologically advanced sector, the importance of enterprise risk prevention and broad, value-based governance to ensure healthcare quality and safety is emphasised. Full article

Although a lack of diversity in genetic studies is an acknowledged obstacle for personalized medicine and precision public health, Latin American populations remain particularly understudied despite their heterogeneity and mixed ancestry. This gap extends to COVID-19 despite its variability in susceptibility and clinical course, where ethnic background appears to influence disease severity, with non-Europeans facing higher hospitalization rates. In addition, access to high-quality samples and data is a critical issue for personalized and precision medicine, and it has become clear that the solution lies in biobanks. The creation of the Chilean COVID-19 Biorepository reported here addresses these gaps, representing the first nationwide multicentric Chilean initiative. It operates under rigorous biobanking standards and serves as one of South America’s largest COVID cohorts. A centralized harmonization strategy was chosen and included unified standard operating procedures, a sampling coding system, and biobanking staff training. Adults with confirmed SARS-CoV-2 infection provided broad informed consent. Samples were collected to preserve blood, plasma, buffy coat, and DNA. Quality controls included adherence to the standard preanalytical code, incident reporting, and DNA concentration and absorbance ratio 260/280 assessments. Detailed sociodemographic, health, medication, and preexisting condition data were gathered. In five months, 2262 participants were enrolled, pseudonymized, and sorted by disease severity. The average Amerindian ancestry considering all participant was 44.0% [SD 15.5%], and this value increased to 61.2% [SD 19.5%] among those who self-identified as Native South Americans. Notably, 279 participants self-identified with one of 12 ethnic groups. High compliance (>90%) in all assessed quality controls was achieved. Looking ahead, our team founded the COVID-19 Genomics Network (C19-GenoNet) focused on identifying genetic factors influencing SARS-CoV-2 outcomes. In conclusion, this bottom-up collaborative effort aims to promote the integration of Latin American populations into global genetic research and welcomes collaborations supporting this endeavor. Interested parties are invited to explore collaboration opportunities through our catalog, accessible online. Full article

While kinship care is prevalent and preferred over out-of-family care, there are relatively few measurement tools validated for use with this audience. The Title IV-E Clearinghouse, used to rate Families First Prevention Services such as Kinship Navigator Programs, requires valid tools. Such families face a myriad of needs in supporting children in their care. Previous research has established the significant challenges faced by rural families. Accurate assessment of these needs, particularly for rural families, is an essential component of kinship navigation services. In this study, we examined the face validity of the Family Needs Scale for use with kinship caregivers in rural programs. Methods: The evaluation teams with each respective kinship program conducted four virtual focus groups comprising kinship caregivers (n = 18) in three rural states. Participants were recruited from outside an ongoing Kinship Navigator Program Evaluation sample but had previously received program support as kinship caregivers. All states received IRB approval from their respective universities. Verbal consent was obtained at the time of the focus group. Focus groups lasted approximately 60–90 min and participants received a gift card incentive. Data were transcribed and qualitatively coded by question set and individual questions to identify phenomenological trends. Findings: Across four focus groups, we found four themes: (1) Broad agreement regarding the face validity of most assessment items; (2) Lack of clarity and shared understanding of several terms used within the tool, (3) Responses change with Ages and Stages of kinship family, and (4) Perspective considerations varying when completing the assessment. Discussion: Findings indicate that most assessment items had strong face validity, where there are a few opportunities to clarify key concepts relevant to rural kinship families and assess additional needs to understand the situational scope of the kinship experience. Overall, the needs assessment tool appears to have validity in assessing current kinship needs and outcomes within Kinship Navigator program evaluation. Full article

Gaps abound in the literature about what happens when people living with deafblindness or dual sensory impairment (DBDSI) go to the hospital. Anecdotally, from my lived experiences and professional work, as well as from within communities, stories are told about how hazardous it is to be a patient in an Australian hospital for those living with DBDSI. This paper outlines a quantitative component of a mixed-methods study examining the intricacies of these experiences. The research objective was to discover what hospital interactions looked like for patients living with DBDSI. A constrained question set was used, namely, the Australian hospital experience question set (AHPEQS 2017). It asked patients about key factors in their hospital interactions. The results form a distressing snapshot of care and communication interactions. Experiences of flouting protective conventions, dehumanisation, neglect, discrimination, disparate care, inaccessible consent forms, and a lack of communication predominate. The participants reported experiences from multiple different hospitals, so these findings suggest a broad culture of failing to provide patient-centred care and accessible-to-the-patient communication. The findings showcase the urgency for more research and remedial actions to be undertaken by both professionals and institutions. Full article

Autism spectrum disorder is a neurodevelopmental disorder that presents with repetitive behavior and weakness in social interaction. The nutritional problems experienced by children with autism aggravate the symptoms of autism, but also cause aggravation of the gastrointestinal system, an increase in hyperactivity disorders and sleep problems. This study was conducted to measure the effects of the nutritional status of children with autism on GIS symptoms, hyperactivity disorders and sleep problems. This study was conducted to measure the effects of the nutritional status of children with autism on GIS symptoms, hyperactivity disorders and sleep problems. The study was carried out with the families of children with autism at Kartal Umut Işığı Special Education and Rehabilitation Center. Within the scope of the study, a questionnaire consisting of four parts was given to the parents of 62 children with autism. The questionnaire included a voluntary consent form, personal information form, Conners Parent Rating Scale (CADS-48) and food frequency questionnaire. The parents completed these questionnaires in a face-to-face environment. The data obtained from the questionnaires were analyzed and presented with the SPSS 22 program. As a result of the study, it was found that different food groups can affect GI problems, hyperactivity disorders and sleep problems. It was found that the children who consumed dry broad beans did not have GIS complaints, and the children who consumed fast food experienced the problem of hyperactivity more regularly (p < 0.05). It was concluded that children who did not have GIS problems did not have sleep problems (p < 0.05). It was confirmed that simple carbohydrate consumption causes hyperactivity in children, but no significant results were found regarding GI problems and sleep disorders in the literature, and there are studies that overlap or contradict our study. More work is needed on this subject. Full article

Objectives: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnancies undergoing invasive diagnostic procedures for minor or simple ultrasound findings with no indication of ES. Methods: Women undergoing invasive diagnostic testing (chorionic villus sampling or amniocentesis) for QF-PCR and chromosomal microarray analysis (CMA) due to prenatal ultrasound findings without an indication for ES were selected over a five-month period (May–September 2021). ES was performed to compare the efficiency of genome-wide CNV detection against CMA analysis and to detect monogenic disorders. Virtual gene panels were selected to target genes related to ultrasound findings and bioinformatic analysis was performed, prioritizing variants based on the corresponding HPO terms. The broad Fetal Gene panel for developmental disorders developed by the PAGE group was also included in the analysis. Results: A total of 59 out of 61 women consented to participate in this study. There were 36 isolated major fetal anomalies, 11 aneuploidy markers, 6 minor fetal anomalies, 4 multiple anomalies, and 2 other ultrasound signs. Following QF-PCR analysis, two uncultured samples were excluded from this study, and six (10%) common chromosome aneuploidies were detected. In the remaining 51 cases, no pathogenic CNVs were detected at CMA, nor were any pathogenic variants observed in gene panels only targeting the ultrasound indications. Two (3.9%) monogenic diseases, apparently unrelated to the fetal phenotype, were detected: blepharo-cheilo-odontic syndrome (spina bifida) and Duchenne muscular dystrophy (pyelocaliceal dilation). Conclusions: In our series of pregnancies with ultrasound findings, common aneuploidies were the only chromosomal abnormalities present, which were detected in 10% of cases. ES CNV analysis was concordant with CMA results in all cases. No additional findings were provided by only targeting selected genes based on ultrasound findings. Broadening the analysis to a larger number of genes involved in fetal developmental disorders revealed monogenic diseases in 3.9% of cases, which, although apparently not directly related to the indications, were clinically relevant. Full article

The topic of informed consent has become increasingly important in recent decades, both in the ethical-deontological field and as a duty of law. The review covered all sentences issued by the 13th section of the Civil Court of Rome during the period January 2016–December 2020. During this period, 156 judgments were found in which a breach of consent was required; in 24 of these, specific liability was proven, and the corresponding compensation liquidated. Moreover, 80% of the cases concerned the lack of information provided. The most involved branches were those related to surgical areas: general surgery, plastic surgery and aesthetic medicine and orthopaedics. The total amount of compensation paid was EUR 287,144.59. The research carried out has highlighted how, in a broad jurisprudential context, the damage caused by the violation of the right related to informed consent is considered, and how it impacts on the economic compensation of damages. Additionally, it showed that the areas most affected by the information deficit are those related to the performance of surgical activities, which are characterized by greater invasiveness and a higher risk of adverse events. The data reported underline the exigency to consider informed consent not as a mere documentary allegation but as an essential moment in the construction of a valid therapeutic alliance, which is also useful for avoiding unnecessary litigation that is becoming increasingly burdensome for healthcare systems all over the world. Full article

Background: COVID-19 pandemic lockdowns led to the closure of most in-person pulmonary rehabilitation programs in Australia. Text message programs are effective for delivering health support to aid the self-management of people with chronic diseases. This study aimed to evaluate the implementation of a six-month pre-post text message support program (Texting for Wellness: Lung Support Service), and the enablers and barriers to its adoption and implementation. Methods: This mixed-methods pre-post study used the Reach, Effectiveness, Adoption, Implementation and Maintenance (RE-AIM) framework to evaluate the Texting for Wellness: Lung Support Service, which is an automated six-month text message support program that included evidence-based lifestyle, disease-self management and COVID-19-related information. Reach was measured by the proportion of participant enrolments and demographic characteristics. Adoption enablers and barriers were measured using text message response data and a user feedback survey (five-point Likert scale questions and free-text responses). Implementation was evaluated to determine fidelity including text message delivery data, opt-outs, and intervention costs to promote and deliver the program. Results: In total, 707/1940 (36.4%) participants enrolled and provided e-consent, with a mean age (±standard deviation) of 67.9 (±9.2) years old (range: 23–87 years). Of participants who provided feedback, (326/707) most ‘agreed’ or ‘strongly agreed’ that the text messages were easy to understand (98.5%), helpful them to feel supported (92.3%) and helped them to manage their health (88.0%). Factors influencing engagement included a feeling of support and reducing loneliness, and its usefulness for health self-management. Messages were delivered as planned (93.7% successfully delivered) with minimal participant dropouts (92.2% retention rate) and low cost ($AUD24.48/participant for six months). A total of 2263 text message replies were received from 496 unique participants. There were no reported adverse events. Conclusion: Texting for Wellness: Lung Support Service was implemented quickly, had a broad reach, with high retention and acceptability among participants. The program was low cost and required minimal staff oversight, which may facilitate future implementation. Further research is needed to evaluate the efficacy of text messaging for the improvement of lung health outcomes and strategies for long-term pulmonary rehabilitation program maintenance. Full article

There has been an increasing interest in patient-reported outcome (PRO) measures in both the clinical and research settings to improve the quality of life among patients and to identify when clinical intervention may be needed. The primary purpose of this prospective study was to validate an acute breast skin toxicity PRO measure across a broad sample of patient body types undergoing radiation therapy. Between August 2018 and September 2019, 134 women undergoing adjuvant breast radiotherapy (RT) consented to completing serial PRO measures both during and post-RT treatment and to having their skin assessed by trained trial radiation therapists. There was high patient compliance, with 124 patients (92.5%) returning to the clinic post-RT for at least one staff skin assessment. Rates of moist desquamation (MD) in the infra-mammary fold (IMF) by PRO were compared with skin assessments completed by trial radiation therapists. There was high sensitivity (86.5%) and good specificity (79.4%) between PRO and staff-reported presence of MD in the IMF, and there was a moderate correlation between the peak severity of the MD reported by PRO and assessed by staff (rho = 0.61, p < 0.001). This prospective study validates a new PRO measure to monitor the presence of MD in the IMF among women receiving breast RT. Full article