A retrospective analysis of molecular testing in cytologically indeterminate thyroid nodules with histologic correlation: Experience at a heterogenous multihospital system.

INTRODUCTION: Thyroid malignancy is one of the most common types of cancer in developed nations. Currently, fine-needle aspiration cytology (FNAC) is the most practical screening test for thyroid nodules. However, cytologically indeterminate samples comprise approximately 15%-30% of cases. These include cases classified as atypia of undetermined significance (AUS), follicular neoplasm (FN), and suspicious for malignancy (SFM). Indeterminate cases can be sent for molecular testing for more definitive classification to help guide management and prevent overtreatment of benign thyroid nodules. We conducted a retrospective review on molecular testing of indeterminate thyroid FNAC and reviewed subsequent histologic diagnoses in resection specimens to assess how molecular testing supported a diagnosis and its effect on clinical management of patients at our institution. METHODS: A retrospective chart review was performed on all thyroid FNAC specimens, corresponding molecular testing, and subsequent surgical resection specimens over a 6-year period. RESULTS: A total of 10,253 thyroid FNAC were performed in our hospital system during our study period, of which 10% (n = 1102/10,253) had indeterminate FNAC results. Molecular testing was performed in 16% (n = 178/1102) of indeterminate cytology cases. Genetic alterations were identified in 39% (n = 69/178) of the cases sent for molecular testing. The majority of cytologically indeterminate cases sent for molecular testing were follicular-patterned lesions and their corresponding resection specimens revealed mostly low grade follicular derived neoplasms (i.e., follicular adenoma, non-invasive follicular thyroid neoplasm with papillary-like nuclear features, and follicular variant of papillary thyroid carcinoma). Of the cases with identified genetic alterations, 75% (n = 52/69) were treated surgically. In cases with no genetic alterations identified, only 18% (n = 20/109) were treated surgically. DISCUSSION/CONCLUSION: Molecular testing on cytologically indeterminate thyroid nodules can help provide a more accurate risk of malignancy assessment in patients with lesions that are difficult to diagnosis based solely on FNAC morphology. The types of genetic alterations identified in the resected thyroid lesions were consistent with what has been previously described in the literature. Additionally, we found that in the patients with indeterminate thyroid FNAC with adjunct molecular testing, more than half did not undergo surgical resection. This finding emphasizes the value of adding molecular testing in patients, particularly when attempting to reduce unnecessary surgical intervention.

The role of thriving in mental health among people with intellectual and developmental disabilities during the COVID-19 pandemic in Canada.

BACKGROUND: The COVID-19 pandemic has had a negative impact on the mental health of people with intellectual and developmental disabilities. Numerous pandemic-related stressors experienced by people with intellectual and developmental disabilities may have impacted their ability to thrive, which has been linked to mental health outcomes. The current study examined the associations among COVID-19 stressors, thriving, and mental health problems among youth and adults with intellectual and developmental disabilities. METHOD: Caregivers of 159 people with intellectual and developmental disabilities between 12 and 35 years of age from Canada completed an online questionnaire. RESULTS: A mediation analysis revealed that COVID-19 stressors were positively associated with mental health problems, and that thriving partially mediated this association. CONCLUSION: Our findings suggest that experiences of thriving may be an important target for mental health support for people with intellectual and developmental disabilities.

COVID-19 Vaccine Confidence Mediates the Relationship between Health Literacy and Vaccination in a Diverse Sample of Urban Adults.

We sought to analyze the relationship between health literacy, confidence in COVID-19 vaccines, and self-reported vaccination. We hypothesized that the relationship between health literacy and vaccination would be mediated by vaccine confidence. We recruited (N = 271) English- and Spanish-speaking adults in Boston and Chicago from September 2018 to September 2021. We performed a probit mediation analysis to determine if confidence in COVID-19 vaccines and health literacy predicted self-reported vaccination. We hypothesized that the relationship between health literacy and vaccination would be mediated by vaccine confidence. Participants were on average 50 years old, 65% female, 40% non-Hispanic Black, 25% Hispanic, and 30% non-Hispanic White; 231 (85%) reported at least one COVID-19 vaccination. A higher mean vaccine confidence score (t = -7.9, p < 0.001) and higher health literacy (t = -2.2, p = 0.03) were associated with vaccination, but only vaccine confidence predicted vaccination in a multivariate model. Vaccine confidence mediated the relationship between health literacy and COVID-19 vaccination (mediated effects: 0.04; 95% CI [0.02, 0.08]). We found that using a simple tool to measure vaccine confidence identified people who declined or delayed COVID-19 vaccination in a diverse sample of adults with varying levels of health literacy. Simple short survey tools can be useful to identify people who may benefit from vaccine promotion efforts and evidence-based communication strategies.

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.

Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated worldwide prevalence of 1 in 5000 live births. These malformations are clinically heterogeneous and can be part of a syndromic presentation (syndromic ARM) or as a nonsyndromic entity (nonsyndromic ARM). Despite the well-recognized heritability of nonsyndromic ARM, the genetic etiology in most patients is unknown. In this study, we describe three siblings with diverse congenital anomalies of the genitourinary system, anemia, delayed milestones, and skeletal anomalies. Genome sequencing identified a novel, paternally inherited heterozygous Caudal type Homeobox 2 (CDX2) variant (c.722A > G (p.Glu241Gly)), that was present in all three affected siblings. The variant identified in this family is absent from population databases and predicted to be damaging by most in silico pathogenicity tools. So far, only two other reports implicate variants in CDX2 with ARMs. Remarkably, the individuals described in these studies had similar clinical phenotypes and genetic alterations in CDX2 CDX2 encodes a transcription factor and is considered the master regulator of gastrointestinal development. This variant maps to the homeobox domain of the encoded protein, which is critical for interaction with DNA targets. Our finding provides a potential molecular diagnosis for this family's condition and supports the role of CDX2 in anorectal anomalies. It also highlights the clinical heterogeneity and variable penetrance of ARM predisposition variants, another well-documented phenomenon. Finally, it underscores the diagnostic utility of genomic profiling of ARMs to identify the genetic etiology of these defects.

Peptide-polyurea hybrids: a platform for tunable, thermally-stable, and injectable hydrogels.

Drawing inspiration from natural systems, such as the highly segmented structures found in silk fibroin, is an important strategy when designing strong, yet dynamic biomaterials. Polymer-peptide hybrids aim to incorporate the benefits of hierarchical polypeptide structures into synthetic platforms that are promising materials for hydrogel systems due to aspects such as their biocompatibility and structural tunability. In this work, we demonstrated the utility of poly(ethylene glycol) (PEG) peptide-polyurea hybrids as self-assembled hydrogels. Specifically, poly(ε-carbobenzyloxy-L-lysine)-b-PEG-b-poly(ε-carbobenzyloxy-L-lysine) and poly(ß-benzyl-L-aspartate)-b-PEG-b-poly(ß-benzyl-L-aspartate) triblock copolymers were used as the soft segments in linear peptide-polyurea (PPU) hybrids. We systematically examined the effect of peptide secondary structure and peptide segment length on hydrogelation, microstructure, and rheological properties of our PPU hydrogels. Polymers containing α-helical secondary structures resulted in rapid gelation upon the addition of water, as driven by hierarchical assembly of the peptide segments. Peptide segment length dictated gel strength and resistance to deformation via complex relationships. Simulated injection experiments demonstrated that PPU hydrogels recover their original gel network within 10 s of cessation of high shear. Finally, we showed that PPU hydrogels remain solid-like within the range of 10 to 80 °C; however, a unique softening transition occurs at temperatures corresponding to slight melting of secondary structures. Overall, this bioinspired PPU hybrid platform provides opportunities to design synthetic, bioinspired polymers for hydrogels with tunable microstructure and mechanics for a wide range of thermal and injection-based applications.

Coping strategies and psychosocial resources among women living with metastatic breast cancer: A qualitative study.

Objective: Despite more women living with metastatic breast cancer (MBC), this population is underrepresented in cancer survivorship research. Few studies have assessed how women with MBC cope with their cancer experience. This qualitative study describes the coping strategies and psychosocial resources utilized by women living with MBC.Methods: Twenty-two women with MBC participated in four focus groups. Transcripts were analyzed using a general inductive approach. Codes derived from participants' responses were subsequently condensed into themes.Results: We identified 12 coping strategies and psychosocial resources and grouped them into five themes: Behavioral Coping Strategies (i.e. stress management, active coping and planning); Cognitive Coping Strategies and Psychological Resources (i.e. cognitive reappraisal, optimism, mindfulness, positive thinking, and religious coping); Existential Approach-Oriented Coping (i.e. acceptance, values-based living, and identity integration); Avoidance (i.e. avoidant coping); and Interpersonal Resources and Seeking Social Support (i.e. social support).Conclusions: Women living with MBC utilize several engagement and disengagement coping strategies, as well as intrapersonal and interpersonal resources. This study provides useful perspectives of women living with MBC that may inform the development of psychosocial interventions. Further research is needed to assess coping strategies and psychosocial resources across different subgroups of MBC patients and determine their impact on cancer outcomes.

The socio-ecological resilience and sustainability implications of seafood supply chain disruption.

Remaining resilient under disruption, while also being sustainable, is essential for continued and equitable seafood supply in a changing world. However, despite the wide application of resilience thinking to sustainability research and the multiple dimensions of social-ecological sustainability, it can be difficult to ascertain how to make a supply chain both resilient and sustainable. In this review, we draw upon the socio-ecological resilience and sustainability literature to identify links and highlight concepts for managing and monitoring adaptive and equitable seafood supply chains. We then review documented responses of seafood supply networks to disruption and detail a case study to describe the attributes of a resilient seafood supply system. Finally, we outline the implications of these responses for social (including wellbeing and equity), economic and environmental sustainability. Disruptions to supply chains were categorised based on their frequency of occurrence (episodic, chronic, cumulative) and underlying themes were derived from supply chain responses for each type of disruption. We found that seafood supply chains were resilient when they were diverse (in either products, markets, consumers or processing), connected, supported by governments at all scales, and where supply chain actors were able to learn and collaborate through trust-based relationships. With planning, infrastructure and systematic mapping, these attributes also can help to build socio-ecological sustainability and move towards more adaptive and equitable seafood supply.

Characterizing unique supportive care needs among women living with metastatic breast cancer: A qualitative study.

Background: Women with metastatic breast cancer face unique challenges as they cope with life-limiting prognoses and arduous treatments. However, the vast majority of research has focused on optimizing quality of life in women with early-stage, non-metastatic breast cancer and little is known about supportive care needs among women living with metastatic cancer. As part of a larger project that sought to inform the development of a psychosocial intervention, the aim of this study was to characterize supportive care needs among women with metastatic breast cancer and elucidate challenges unique to living with a life-limiting prognosis. Methods: Four, two-hour focus groups with 22 women were audio-recorded, transcribed verbatim, and analyzed in Dedoose using a general inductive approach to code categories and extract themes. Results: A total of 16 codes emerged from 201 participant comments regarding supportive care needs. Codes were collapsed into four supportive care need domains: 1. psychosocial, 2. physical and functional, 3. health system and information, and 4. sexuality and fertility needs. The most prevalent needs were breast cancer-related symptom burden (17.4%), lack of social support (14.9%), uncertainty (10.0%), stress management (9.0%), patient-centered care (7.5%), and sexual functioning (7.5%). More than half of needs (56.2%) were in the psychosocial domain and more than two-thirds of needs (76.8%) were in the psychosocial and physical and functional domains. Supportive care needs unique to living with metastatic breast cancer included the cumulative effects of continuously undergoing cancer treatment on symptom burden, worry from scan-to-scan regarding response to cancer treatments, diagnosis-related stigma and social isolation, end-of-life concerns, and misconceptions regarding metastatic breast cancer. Conclusions: Findings suggest that women with metastatic breast cancer have unique supportive care needs compared to women with early-stage breast cancer that are specific to living with a life-limiting prognosis and are not typically captured in existing self-report measures of supportive care needs. Results also highlight the importance of addressing psychosocial concerns and breast cancer-related symptoms. Women with metastatic breast cancer may benefit from early access to evidence-based interventions and resources that specifically address their supportive care needs and optimize quality of life and wellbeing.

A scoping review of institutional policies and recommendations for trans inpatient mental health care.

WHAT IS KNOWN ON THE SUBJECT?: International guidelines for trans-and-gender-non-conforming (TGNC) exists in outpatient settings. Compared to cisgender and heterosexual people, TGNC individuals are at a higher risk of mental health difficulties and have higher rates of inpatient mental health treatment. WHAT DOES THIS PAPER ADD TO EXISTING KNOWLEDGE?: An international scoping review identifying the lack of guidelines existing for TGNC individuals in inpatient mental health settings. Compared to psychiatrists and psychologists, mental health nursing has the most contact with patients admitted for inpatient psychiatric treatment. The study identifies unaddressed needs in gender affirming policies and outlines preliminary policy recommendations to assist mental health staff in improving TGNC patient quality of care within the United States. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Reforming existing guidelines or creating new guidelines based on the identified themes and gaps to improve the well-being and treatment outcomes of TGNC individuals in inpatient psychiatric settings within the United States. ABSTRACT: INTRODUCTION: Access to culturally sensitive care is critical for addressing known mental health disparities among trans-and gender-non-conforming (TGNC) individuals. Although there has been a proliferation of TGNC healthcare guidelines from accrediting bodies, policies have failed to address the needs of TGNC patients in inpatient psychiatric settings. AIM: To identify unaddressed needs in policies and policy recommendations for the care of TGNC patients to inform recommendations for change. METHOD: A scoping review protocol was developed following the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 850 articles were reduced to seven relevant articles with six themes identified via thematic analysis. RESULTS: Six themes were identified: lack of consistency in preferred and pronoun use, lack of communication among providers, lack of training in TGNC healthcare, personal bias, lack of formal policies, and housing segregation by sex rather than gender. DISCUSSION: The creation of new guidelines or bolstering of existing guidelines to specifically address identified themes and gaps may improve the well-being and treatment outcomes of TGNC individuals in inpatient psychiatric settings. IMPLICATIONS FOR PRACTICE: To provide a foundation for future studies to integrate these identified gaps and inform the future development of comprehensive formal policies that generalize TGNC care in inpatient settings.

Histopathological survey of putative parasites and pathogens in non-native slipper limpets Crepidula fornicata.

Two populations of the invasive slipper limpet Crepidula fornicata were sampled in Swansea Bay and Milford Haven, Wales, UK, to determine the presence of putative pathogens and parasites known to affect co-located commercially important shellfish (e.g. oysters). A multi-resource screen, including molecular and histological diagnoses, was used to assess 1800 individuals over 12 mo for microparasites, notably haplosporidians, microsporidians and paramyxids. Although initial PCR-based methods suggested the presence of these microparasites, there was no evidence of infection when assessed histologically, or when all PCR amplicons (n = 294) were sequenced. Whole tissue histology of 305 individuals revealed turbellarians in the lumen of the alimentary canal, in addition to unusual cells of unknown origin in the epithelial lining. In total, 6% of C. fornicata screened histologically harboured turbellarians, and approximately 33% contained the abnormal cells-so named due to their altered cytoplasm and condensed chromatin. A small number of limpets (~1%) also had pathologies in the digestive gland including tubule necrosis, haemocytic infiltration and sloughed cells in the tubule lumen. Overall, these data suggest that C. fornicata are not susceptible to substantive infections by microparasites outside of their native range, which may contribute in part to their invasion success.

The mediating effect of health literacy on COVID-19 vaccine confidence among a diverse sample of urban adults in Boston and Chicago.

BACKGROUND: A high rate of COVID-19 vaccination is critical to reduce morbidity and mortality related to infection and to control the COVID-19 pandemic. Understanding the factors that influence vaccine confidence can inform policies and programs aimed at vaccine promotion. We examined the impact of health literacy on COVID-19 vaccine confidence among a diverse sample of adults living in two major metropolitan areas. METHODS: Questionnaire data from adults participating in an observational study conducted in Boston and Chicago from September 2018 through March 2021 were examined using path analyses to determine whether health literacy mediates the relationship between demographic variables and vaccine confidence, as measured by an adapted Vaccine Confidence Index (aVCI). RESULTS: Participants (N = 273) were on average 49 years old, 63 % female, 4 % non-Hispanic Asian, 25 % Hispanic, 30 % non-Hispanic white, and 40 % non-Hispanic Black. Using non-Hispanic white and other race as the reference category, Black race and Hispanic ethnicity were associated with lower aVCI (-0.76, 95 % CI -1.00 to -0.50; -0.52, 95 % CI -0.80 to -0.27, total effects from a model excluding other covariates). Lower education was also associated with lower aVCI (using college or more as the reference, -0.73 for 12th grade or less, 95 % CI -0.93 to -0.47; -0.73 for some college/associate's/technical degree, 95 % CI -1.05 to -0.39). Health literacy partially mediated these effects for Black and Hispanic participants and those with lower education (indirect effects -0.19 and -0.19 for Black race and Hispanic ethnicity; 0.27 for 12th grade or less; -0.15 for some college/associate's/technical degree). CONCLUSIONS: Lower levels of education, Black race, and Hispanic ethnicity were associated with lower scores on health literacy, which in turn were associated with lower vaccine confidence. Our findings suggest that efforts to improve health literacy may improve vaccine confidence, which in turn may improve vaccination rates and vaccine equity. CLINICAL TRIALS NUMBER: NCT03584490.

A Modification of the Anoplasty Technique during a Posterior Sagittal Anorectoplasty and Anorectal Vaginal Urethroplasty Closure: The Para-U-Stitch to Prevent Wound Dehiscence.

OBJECTIVE: Wound dehiscence after posterior sagittal anorectoplasty (PSARP) or anorectal vaginal urethroplasty (PSARVUP) for anorectal malformation (ARM) is a morbid complication. We present a novel anoplasty technique employing para-U-stitches along the anterior and posterior portions of the anoplasty, which helps buttress the midline U-stitch and evert the rectal mucosa. We hypothesized that, in addition to standardized pre- and postoperative protocols, this technique would lower rates of wound dehiscence. MATERIALS AND METHODS: A retrospective review of patievnts who underwent primary PSARP or PSARVUP with the para-U-stitch technique from 2015 to 2021 was performed. Wound dehiscence was defined as wound disruption requiring operative intervention within 30 days of the index operation. Superficial wound separations were excluded. Descriptive statistics were calculated. The final cohort included 232 patients. RESULTS: Rectoperineal fistula (28.9%) was the most common ARM subtype. PSARP was performed in 75% and PSARVUP in 25%. The majority were reconstructed with a stoma in place (63.4%). Wound dehiscence requiring operative intervention occurred in four patients, for an overall dehiscence rate of 1.7%. The dehiscence rate was lower in PSARPs compared with PSARVUPs (0.6 vs. 5.2%) and lower for reconstruction without a stoma compared with a stoma (1.2 vs. 2.0%). There were additional six patients (2.6%) with superficial wound infections managed conservatively. CONCLUSION: We present the para-U-stitch anoplasty technique, which is an adjunct to the standard anoplasty during PSARP and PSARVUP. In conjunction with standardized pre- and postoperative protocols, this technique can help decrease rates of wound dehiscence in this patient population.

Implementation of Peer Messengers to Deliver Feedback: An Observational Study to Promote Professionalism in Nursing.

BACKGROUND: The Co-Worker Observation System (CORS) is a tool and a process to address disrespectful behavior through feedback from trained peer messengers. First used by physicians and advanced practice providers (APPs), CORS has been shown to decrease instances of unprofessional behaviors among physicians and APPs. The research team assessed the feasibility and fidelity of implementing CORS for staff nurses. METHODS: CORS was implemented at three academic medical centers using a project bundle with 10 essential implementation elements. Reports of unprofessional behavior among staff nurses that were submitted through the institution's electronic reporting system were screened through natural language processing software, coded by trained CORS coders using the Martinez taxonomy, and referred to a trained peer messenger to share the observations with the nurse. A mixed methods, observational design assessed feasibility and fidelity. RESULTS: A total of 590 reports from three sites were identified by the Center for Patient and Professional Advocacy from September 1, 2019, through August 31, 2021. Most reports included more than one problematic behavior, each of which was coded. Of the peer messages, 76.5% were successfully documented using the debriefing survey as complete, 2.2% as awaiting messenger feedback, and 0.2% as awaiting messenger assignments (total of 78.9 % considered delivered). A total of 21.1% were not shared; 4.7% of reports were intentionally not shared because the issue stemmed from a new system or policy implementation (4.0%) or because of known factors affecting the nurse (0.7%). CONCLUSION: CORS can be implemented with staff nurses efficiently when nursing infrastructure is adequate.

Evaluating Social Determinants of Health in a Mobile Integrated Healthcare-Community Paramedicine Program.

In 2018, the University of Maryland Medical Center and the Baltimore City Fire Department implemented a community paramedicine program to help medically or socially complex patients transition from hospital to home and avoid hospital utilization. This study describes how patients' social determinants of health (SDoH) needs were identified, and measures the association between needs and hospital utilization. SDoH needs were categorized into ten domains. Multinomial logistic regression was used to measure association between identified SDoH domains and predicted risk of readmission. Poisson regression was used to measure association between SDoH domains and actual 30-day hospital utilization. The most frequently identified SDoH needs were in the Coordination of Healthcare (37.7%), Durable Medical Equipment (18.8%), and Medication (16.3%) domains. Compared with low-risk patients, patients with an intermediate risk of readmission were more likely to have needs within the Coordination of Healthcare (RRR [95% CI] 1.12 [1.01, 1.24], p = 0.032) and Durable Medical Equipment (RRR = 1.13 [1.00, 1.27], p = 0.046) domains. Patients with the highest risk for readmission were more likely to have needs in the Utilities domain (RRR = 1.76 [0.97, 3.19], p = 0.063). Miscellaneous domain needs, such as requiring a social security card, were associated with increased 30-day hospital utilization (IRR = 1.23 [0.96, 1.57], p = 0.095). SDoH needs within the Coordination of Healthcare, Durable Medical Equipment, and Utilities domains were associated with higher predicted 30-day readmission, while identification documentation and social services needs were associated with actual readmission. These results suggest where to allocate resources to effectively diminish hospital utilization.

Evaluating the Impact of a Mobile Integrated Health‒Community Paramedicine Program on Health-Related Social Needs and Hospital Readmissions.

OBJECTIVE: Evaluate a mobile integrated health-community paramedicine program's effect on addressing health-related social needs and their association with hospital readmissions. METHODS: This observational study enrolled 1,003 patients from 5/4/2018-7/23/21. Descriptive statistics summarize social needs. A Poisson regression model examined the association of interventions for social needs with 30-day readmissions. RESULTS: Patients who had their medication-related needs fully addressed had a 65% lower rate of total 30-day readmission compared with patients who had no such needs fully addressed (IRR=0.35, 95% CI 0.18-0.68, P=.002). No variables reached statistical significance related to unplanned 30-day readmissions, aside from the HOSPITAL Score. CONCLUSIONS: Assisting patients with medication-related needs is associated with reductions in overall 30-day readmissions. Interventions within most domains were not associated with reductions in overall or unplanned 30-day readmissions. This program had greater success addressing needs with one-step interventions, suggesting additional time and resources may be necessary to address complex social needs.

'I have a healthy relationship with alcohol': Australian midlife women, alcohol consumption and social class.

Alcohol consumption by Australian women during midlife has been increasing. Health promotion efforts to reduce alcohol consumption in order to reduce alcohol-related disease risk compete with the social contexts and value of alcohol in women's lives. This paper draws on 50 qualitative interviews with midlife women (45-64 years of age) from different social classes living in South Australia in order to gain an understanding of how and why women might justify their relationships with alcohol. Social class shaped and characterized the different types of relationships with alcohol available to women, structuring their logic for consuming alcohol and their ability to consider reducing (or 'breaking up with') alcohol. We identified more agentic relationships with alcohol in the narratives of affluent women. We identified a tendency for less control over alcohol-related decisions in the narratives of women with less privileged life chances, suggesting greater challenges in changing drinking patterns. If classed differences are not attended to in health promotion efforts, this might mitigate the effectiveness of alcohol risk messaging to women.

Discordant Congenital Toxoplasmosis and Cytomegalovirus Infection in Dichorionic Diamniotic Twins.

BACKGROUND: Toxoplasmosis and cytomegalovirus (CMV) congenital infection present with similar clinical pictures. Both infections have long-term sequelae that can be mitigated by early detection and treatment. Coinfection is uncommonly reported. METHODS: Dichorionic diamniotic twins born at 35 weeks of gestation were investigated for congenital infections due to abnormalities on the antenatal scan at 31 weeks of gestation. Antenatal investigations were delayed due to late booking and delay in maternal investigations. In the neonatal period, they suffered discordant symptoms and were both investigated for Toxoplasma gondii infection. This diagnosis was confirmed in twin 2 but proved difficult in twin 1 who had a weakly positive polymerase chain reaction with inconclusive serology. Twin 1 was also diagnosed with congenital CMV, further complicating the clinical picture. Toxoplasmosis can cause long-term sequelae, and definitive diagnosis requires serology at 12 months of age; in view of this, treatment for congenital toxoplasmosis was initiated in both twins. Twin 1 was also treated for congenital CMV. RESULTS: Due to limitations in serological investigations in neonates, diagnosing congenital toxoplasmosis can be challenging, and initiating treatment may be warranted in suspected cases, given the risk of infective complications. Discordant presentations between twins are known in congenital toxoplasmosis and CMV, but coinfection has rarely been reported without concurrent immunocompromise. A high index of suspicion should be maintained in the twin of an infected neonate, and the possibility of multiple infections should be considered. Multidisciplinary working is crucial in reaching a diagnosis and treating appropriately.

Health-Related Quality of Life with Diroximel Fumarate in Patients with Relapsing Forms of Multiple Sclerosis: Findings from Qualitative Research Using Patient Interviews.

INTRODUCTION: Diroximel fumarate (DRF) is an oral fumarate for relapsing multiple sclerosis (MS). Clinical and real-world studies of DRF have demonstrated improved gastrointestinal (GI) tolerability and low (< 1%) GI-related treatment discontinuation versus dimethyl fumarate (DMF) and high rates of treatment adherence. Our aim was to conduct a concept elicitation study to identify treatment-related concepts most meaningful to patients and to evaluate how these concepts shape the patient perspective of DRF. METHODS: In-depth qualitative interviews were conducted with patients from October to December 2020. US adults who had been prescribed DRF through routine clinical care and had taken DRF for ≥ 3 weeks in the past 6 months were eligible to participate. Semi-structured interviews explored patient perceptions on treatment selection and impact. RESULTS: Seventeen patients participated in the study. Mean (SD) age was 49.3 (12.0) years. Sixteen patients reported prior disease-modifying therapy, while 10 (58.8%) had prior DMF. DRF treatment duration ranged from ~ 6 weeks to 10 months. Four key concepts emerged: (1) overall wellness and quality of life, (2) ease of administration, (3) minimal and manageable side effects, and (4) patient optimism due to MS treatments. Mode of administration (82.4%), no/mild side effects (70.6%), convenience over injectable/infusion medications (58.8%), and effectiveness (64.7%) were cited as positive aspects of DRF treatment. Frequent dosing (52.9%) and food requirements (41.2%) were cited as negative attributes; however, 94.1% had no dietary changes since starting treatment. CONCLUSION: The patient perspective is a key aspect when considering a disease-modifying therapy for MS, given the multitude of options currently available. Overall wellness, ease of administration, and minimal and manageable side effects were DRF-related concepts most meaningful to patients on therapy. Acknowledging these patient perceptions in shared decision-making may lead to greater patient adherence and optimal treatment outcomes.

Multiple sclerosis (MS), an immune-related disease, may present with neurological symptoms that come and go. Diroximel fumarate (DRF) is a next-generation oral treatment for MS, which has been shown in clinical trials to have fewer gastrointestinal side effects compared to dimethyl fumarate (DMF), another oral treatment. Patients' perspective can shed light on what they value when choosing a treatment, so we interviewed 17 people with MS about how DRF treatment affects their daily life and work. The study participants (49.3 years old on average) received DRF for ~ 6 weeks to 10 months. Around 5 in 10 people had positive feelings about their current health following treatment with DRF. Most felt there was either improvement or no negative change in quality of life since starting DRF treatment; DRF did not affect their work or daily obligations. Treatment characteristics of DRF that were perceived as most important included ease of administration, minimal and manageable side effects, and the facilitation of overall wellness and quality of life. While the oral dosing of DRF was more convenient than injectable or infusion therapy options, about half of the respondents preferred a less frequent treatment regimen than the twice daily dosing of DRF which needs to be taken with food. However, those who switched to DRF from DMF (or other oral medications for MS) expressed that the transition was smooth. Understanding factors that are important to patients can guide treatment choices and help patients stay on treatment longer and have better MS outcomes.