Osteochondral lesions in Wilson's disease: case report and literature review.

Background: Wilson's disease (WD) is a rare genetic disorder characterized by copper accumulation in the body, leading to a spectrum of health issues, such as liver disease, neurological disturbances, and psychiatric disorders. In recent years, there has been increasing recognition that WD can also result in osteoarticular defects. Research has shed light on the potential of WD to cause these findings, which in some instances, can progress to osteoarthritis and persistent pain. However, the exact pathophysiological process through which WD leads to osteochondral defects remains unclear. Case Description: We present a case of a 30-year-old male diagnosed with WD exhibiting musculoskeletal symptoms. The patient's medical history revealed chronic intermittent knee pain. Radiographic and magnetic resonance imaging (MRI) studies revealed a substantial osteochondral lesion with high-grade chondral fissuring. This report reviews the proposed pathophysiology of orthopedic pathology in WD, offers an updated literature review, and provides clinical recommendations for management. Treatment options including nonsurgical options and surgery are discussed. Conclusions: This case underscores the significance of identifying the orthopedic manifestations of WD, even in the absence of classic signs and symptoms. Any WD patient suspected of having osteoarticular defects should be thoroughly evaluated, with a low threshold for initiating imaging studies. Moreover, treatment plans should be tailored to the patient's specific presentation, emphasizing the importance of individualized patient care. This case highlights key findings in WD and provides important insights, particularly on the clinical relevance of osteoarticular defects in WD, the potential application of nonsurgical and surgical treatments, and the importance of individualized patient care in the management of WD.

Impact of climate change on paediatric respiratory health: pollutants and aeroallergens.

Paediatric populations are particularly vulnerable to respiratory diseases caused and exacerbated by aeroallergens, pollutants and infectious agents. Worsening climate change is expected to increase the prevalence of pollutants and aeroallergens while amplifying disease severity and causing disproportionate effects in under-resourced areas. The purpose of this narrative review is to summarise the role of anthropogenic climate change in the literature examining the future impact of aeroallergens, pollutants and infectious agents on paediatric respiratory diseases with a focus on equitable disease mitigation. The aeroallergens selected for discussion include pollen, dust mites and mould as these are prevalent triggers of paediatric asthma worldwide. Human rhinovirus and respiratory syncytial virus are key viruses interacting with climate change and pollution and are primary causal agents of viral respiratory disease. Within this review, we present the propensity for aeroallergens, climate change and pollution to synergistically exacerbate paediatric respiratory disease and outline measures that can ameliorate the expected increase in morbidity and severity of disease through a health equity lens. We support shifting from fossil fuels to renewable energy worldwide, across sectors, as a primary means of reducing increases in morbidity.

Patients' Experiences of Dental Diagnostic Failures: A Qualitative Study Using Social Media.

OBJECTIVE: Despite the many advancements made in patient safety over the past decade, combating diagnostic errors (DEs) remains a crucial, yet understudied initiative toward improvement. This study sought to understand the perception of dental patients who have experienced a dental diagnostic failure (DDF) and to identify patient-centered strategies to help reduce future occurrences of DDF. METHODS: Through social media recruitment, we conducted a screening survey, initial assessment, and 67 individual patient interviews to capture the effects of misdiagnosis, missed diagnosis, or delayed diagnosis on patient lives. Audio recordings of patient interviews were transcribed, and a hybrid thematic analysis approach was used to capture details about 4 main domains of interest: the patient's DDF experience, contributing factors, impact, and strategies to mitigate future occurrences. RESULTS: Dental patients endured prolonged suffering, disease progression, unnecessary treatments, and the development of new symptoms as a result of experiencing DE. Poor provider communication, inadequate time with provider, and lack of patient self-advocacy and health literacy were among the top attributes patients believed contributed to the development of a DE. Patients suggested that improvements in provider chairside manners, more detailed patient diagnostic workups, and improving personal self-advocacy; along with enhanced reporting systems, could help mitigate future DE. CONCLUSIONS: This study demonstrates the valuable insight the patient perspective provides in understanding DEs, therefore aiding the development of strategies to help reduce the occurrences of future DDF events. Given the challenges patients expressed, there is a significant need to create an accessible reporting system that fosters constructive clinician learning.

Using systems-mapping to address Adverse Childhood Experiences (ACEs) and trauma: A qualitative study of stakeholder experiences.

Adverse childhood experiences (ACEs) and trauma have been linked to decreased psychosocial and physiological health functioning. While various individual and community-level interventions to address ACEs have been reported, one novel approach that has not been explored in detail is a community-engaged causal loop diagramming project, or systems mapping project (SMP), in which diverse stakeholders work together to document the forces that are creating the outcomes and patterns within the community. To better document and understand the impact of participation in an SMP, we conducted in-depth, qualitative interviews with 16 stakeholders who were involved in a systems-mapping process facilitated by a local nonprofit in Eastern North Carolina. We used an iterative, content analysis coding process to generate and analyze themes from these interviews. Three major themes emerged: 1) Recognition and understanding of own trauma, 2) Trauma as both a community issue and an individual issue, and 3) Systems-mapping as a conceptual tool with practical benefits. All participants strongly recommended the systems-mapping approach to other communities and believed that it is a valuable tool for empowerment and provided several considerations for future organizers of similar systems-mapping projects. Our findings suggest that systems mapping is a feasible, transferable, and promising modality for understanding and addressing ACEs at the individual, interpersonal, and community-levels, as well as for putting community voices at the forefront of efforts to address ACEs.

The impact of health care provider relationships and communication dynamics on urinary tract infection management and antibiotic utilization for long-term care facility residents treated in the emergency department: A qualitative study.

BACKGROUND: For older adults, over diagnosis of urinary tract infections (UTI) is a primary driver of inappropriate antibiotic use. This risk is increased for patients in long-term care facilities (LTCF), especially as they transition back and forth to emergency departments (ED). In this study, we aimed to understand how health care provider communication and relationship dynamics affect LTCF residents treated in the ED to identify barriers to antibiotic stewardship for UTIs. METHODS: We conducted semi-structured interviews with nurses and physicians from LTCFs and EDs, guided by the Systems Engineering Initiative for Patient Safety framework. Data were systematically coded and underwent iterative, conventional, content analysis. RESULTS: We interviewed 16 LTCF and 16 ED providers across Wisconsin. ED and LTCF nurses have a critical role in both intrafacility and interfacility communication. Fragmented communication and interprofessional power dynamics were identified barriers to optimal antibiotic prescribing for UTIs. Identified strategies to overcome these issues included using objective diagnostic criteria, development of communication scripts, and nurse-to-nurse education. CONCLUSIONS: Our qualitative approach revealed important insights about how communication and relationship dynamics influence UTI diagnosis and optimal antibiotic stewardship for LTCF residents evaluated in the ED. Future interventions should strengthen communications between settings and across provider types, and address standardization of diagnostic and treatment communication pathways for LTCF residents with suspected infections transitioning between EDs and LTCFs.

The Adult Ts65Dn Mouse Model of Down Syndrome Shows Altered Swallow Function.

There are increased risks for deglutition disorders in people with Down syndrome (DS). Although mouse models have been used to study the biological underpinnings of DS in other areas, relatively little is known about swallowing phenotypes in these models. We hypothesized that swallowing performance would be affected in adult mouse models of DS, relative to typical control mice. Videofluoroscopic swallow studies (VFSS) were conducted on adults of two mouse models of DS: Ts65Dn and Dp(16)1Yey, and evaluated in comparison with age-matched controls. Relative to other groups, adult Ts65Dn showed significantly slower swallow rates, longer inter-swallow intervals (ISI), and greater numbers of jaw excursion cycles preceding each swallow. In contrast, adult Dp(16)1Yey mice showed swallowing performance similar to control mice. Exploratory quantitative analyses of the intrinsic tongue (transverse muscle), and extrinsic tongue muscles [genioglossus (GG), styloglossus (SG), and hyoglossus (HG)] showed no significant differences between genotype groups in myosin heavy chain isoform profiles. Collectively, these findings suggest that while swallowing is typical in adult Dp(16)1Yey, swallowing in adult Ts65Dn is atypical due to unknown causes. The finding that adult Ts65Dn may have utility as a model of dysphagia provides new opportunities to elucidate biological underpinnings of dysphagia associated with DS.

Early impacts of modified food consistency on oromotor outcomes in mouse models of Down syndrome.

Down syndrome (DS) in humans is associated with differences of the central nervous system and oromotor development. DS also increases risks for pediatric feeding challenges, which sometimes involve the use of altered food consistencies. Therefore, experimental food consistency paradigms are of interest to oromotor investigations in mouse models of Down syndrome (DS). The present work reports impacts of an altered food consistency paradigm on the Ts65Dn and Dp(16)1Yey mouse models of DS, and sibling control mice. At weaning, Ts65Dn, Dp(16)1Yey and respective controls were assigned to receive either a hard food or a soft food (eight experimental groups, n = 8-10 per group). Two weeks later, mice were assessed for mastication speeds and then euthanized for muscle analysis. Soft food conditions were associated with significantly smaller weight gain (p = .003), significantly less volitional water intake through licking (p = .0001), and significant reductions in size of anterior digastric myofibers positive for myosin heavy chain isoform (MyHC) 2b (p = .049). Genotype was associated with significant differences in weight gain (p = .004), significant differences in mastication rate (p = .001), significant differences in a measure of anterior digastric muscle size (p = .03), and significant reductions in size of anterior digastric myofibers positive for MyHC 2a (p = .04). In multiple measures, the Ts65Dn model of DS was more affected than other genotype groups. Findings indicate a soft food consistency condition in mice is associated with significant reductions in weight gain and oromotor activity, and may impact digastric muscle. This suggests extended periods of food consistency modifications may have impacts that extend beyond their immediate roles in facilitating deglutition.