Symptom Presentation Research Articles

AHP SO06 - A case report of the nutritional and multi-disciplinary team (MDT) management of an emergency oesophageal perforation associated with Eosinophilic Oesophagitis (EOE)

Abstract Background EOE once considered rare, is a chronic inflammatory condition of the oesophagus presenting as dysphagia and food impaction in children and adults. Awareness and management of EOE is variable despite an increasing prevalence and the condition deemed the most common cause of oesophageal perforation in adults and children by the British Society of Gastroenterology (BSG). This case review aims to increase the awareness of EOE, highlight the clinical presentation of EOE, discuss considerations for the nutritional management and the importance of an MDT approach to the care of this condition in relation to the BSG consensus guidelines. Method The patient was admitted to a specialist oesophago-gastric surgical centre in the Northwest of England. A retrospective review of the patient’s case notes was completed. This included exploration of all inpatient and outpatient contacts stored in the electronic patient records system. Results 18-year-old underweight male with IgE-mediated nut allergy and odynophagia, developed complex multi-site oesophageal perforations following OGD. Management included 40-day endoluminal vacuum therapy and extensive nutritional support. Although initial biopsies lacked diagnostic quality and conclusive results, EOE was subsequently confirmed. Dietetic evaluation included nutritional status, atopic history, symptoms, and dietary intolerances. MDT discussions influenced care continuity and patient compliance. Feeding delays attributable to frequent theatre visits impacted continued weight loss; addressed with allergen-free enteral and parenteral feeding, and dietary reintroduction, following six-food elimination once perforations had healed. Healthy BMI was achieved through patient’s preferred long-term management of normal diet and Budesonide. Conclusion Increased awareness of EOE is paramount for patients presenting with unexplained oesophageal perforation. Obtaining biopsy samples as per BSG guidance supports earlier diagnosis and management plan. A thorough clinical history including childhood eating behaviours, atopic history, dietary intolerances and symptom presentation from the patient and relatives gathers collateral information to support diagnosis and treatment planning. Joint discussions regarding pharmaceutical management, dietary elimination and reintroduction are important to achieve remission. The case highlights the importance of collaborative MDT working with the surgical, medical and dietetics whilst empowering the patient to make informed decisions regarding the nutritional and medical management of condition.

BIOM-34. INTRACRANIAL MANAGEMENT OF HER-2 OVEREXPRESSION BREAST CANCER WITH EXTENSIVE VOLUME OR SYMPTOMATIC BRAIN METASTASES

Abstract BACKGROUND HER-2 overexpression in breast cancer often leads to brain metastases, necessitating effective intracranial control strategies. This study aimed to evaluate the correlation between intracranial disease volume, symptomatic presentation, and treatment outcomes in HER-2 overexpressing breast cancer patients with brain metastases. METHODS A retrospective analysis was conducted on cases of HER-2 overexpressing breast cancer patients with brain metastases. Clinical records were reviewed to extract patient demographics, treatment modalities, and intracranial disease characteristics. Intracranial tumor burden was quantified at diagnosis and post-initial treatment. High intracranial tumor burden was defined as either total metastatic volume >15 cc, or the largest lesion >3 cm. Responses were assessed using established criteria. The correlation between intracranial disease parameters and intracranial progression-free survival (PFS) and overall survival (OS) was determined. RESULTS The study comprised 65 patients with HER-2 overexpression breast cancer and brain metastases. Symptomatic presentation was observed in 69.2% of patients at the diagnosis of brain metastases. Treatment with HER-2 target therapy alone or in combination with other modalities resulted in substantial intracranial responses, with 81.5% achieving at least a partial response at 3 months from therapy initiation. Median intracranial PFS and OS for patients with high intracranial burden were 9 and 22 months, respectively. Patients with high intracranial burden and symptomatic presentation at diagnosis demonstrated worse PFS and OS to those with lower burden and absence of symptoms (p < 0.05 for each). CONCLUSION Intracranial control in HER-2 overexpressing breast cancer patients with large volume or symptomatic brain metastases appears promising with combination with HER-2 targeted therapy and radiotherapy. Despite the varying intracranial disease burdens and symptomatic presentations, the use of HER-2 targeted therapy combined with radiotherapy demonstrates favorable intracranial responses, highlighting their potential in managing such cases.

A comprehensive narrative review on psychotherapies for patients with autism spectrum disorders

Autism spectrum disorders (ASD) are complex neurodevelopmental conditions characterized by challenges in social interaction, communication, and repetitive behaviors. Psychotherapeutic interventions must tailor to meet the specific needs of individuals with ASD, given their diverse presentation of symptoms and functioning levels. This narrative review explores the range of psychotherapies available for individuals with ASD, examining their methodologies, effectiveness, and suitability. By using targeted search terms such as “autism,” “autistic disorder,” “autism spectrum disorders,” “psychotherapy,” “psychological intervention,” and “psychosocial intervention,” an extensive review of publications in English from 2000 to 2024 was conducted. This review covered several databases, including Embase, PubMed, Web of Science, Scopus, Cochrane Library, and Google Scholar. The review identified ten major psychological interventions for the treatment of individuals with ASD: behavioral therapies, developmental therapies, cognitive behavioral therapy, social skills training, speech-language therapy, occupational therapy, family therapy, mindfulness-based interventions, parent-mediated interventions, and dance movement psychotherapy. The main text elaborates on the effects of each intervention on various aspects of ASD. By providing this comprehensive overview, clinicians can select appropriate therapeutic strategies that cater to the individual profiles of those with ASD, ultimately enhancing therapeutic outcomes and quality of life for this population.

Distal femur osteosarcoma in a seven-year-old: A case report on acute symptom presentation

Distal femur osteosarcoma in a seven-year-old: A case report on acute symptom presentation

Eating and feeding disorders in adults with intellectual developmental disorder with and without autism spectrum disorder.

The present observational cross-sectional study aimed at investigating the prevalence of feeding and eating disorders (FEEDs) in adults with intellectual disability (ID)/intellectual developmental disorder (IDD) with or without autism spectrum disorder (ASD) and specific problem behaviours (PBs). Two hundred six adults with ID/IDD consecutively attending residential and rehabilitative facilities, 59.2% of which had co-occurring ASD, were assessed for presence of FEEDs by a structured interview specifically developed for the study and Diagnostic Manual - Intellectual Disability criteria. The 4.3% of the sample fully met the diagnostic criteria for anorexia nervosa, 6.7% for bulimia nervosa (BN) and 22.8% for binge eating disorder (BED). Furthermore, at least one observable symptom of these disorders was found in higher percentages of the sample. A higher prevalence of FEEDs was found in ID/IDD plus ASD than in ID/IDD alone. PBs were also significantly higher in participants with co-occurring ASD and had a positive correlation with the number of FEED symptoms, especially for BN and BED. The study enriches previous literature and considers novel aspects such as the behavioural/observable presentation of symptoms as well as the association with ASD and PBs. These issues deserve a specific consideration within standard psychiatric assessment and future research, especially in persons with major communication and/or cognitive difficulties.

Intersectionality of gender with social determinants of health and asymptomatic Alzheimer's disease neuropathology.

Women comprise approximately two-thirds of Alzheimer's disease cases. This is the first known study to investigate the role of intersectionality between gender and other social determinants of health (SDOH) in the presentation of cognitive symptoms (i.e., being asymptomatic or symptomatic) among those with pathologically confirmed Alzheimer's disease. We studied 3107 individuals with Alzheimer's disease neuropathology (ADNP) confirmed at autopsy. Asymptomatic ADNP was defined as the absence of a clinical diagnosis of mild cognitive impairment (MCI) or dementia before death (versus symptomatic: diagnosis of MCI/dementia). SDOH included gender, education, ethnoracial group, living alone, and primary language. Multivariable logistic regression tested associations between SDOH and asymptomatic ADNP (versus symptomatic); models were also stratified by gender. Women, Hispanics, those living alone, and more educated individuals were found to have higher odds of asymptomatic ADNP. Non-English speakers had lower odds of asymptomatic ADNP. Both women and men had higher odds of asymptomatic ADNP if Hispanic or living alone. In only women, non-English speakers had lower odds while in only men, more education was associated with higher odds of asymptomatic ADNP. Gender, education, ethnicity, primary language, and living alone, and intersectionality of gender with primary language, may differentially influence MCI and dementia diagnosis prior to death among those with underlying ADNP. These findings emphasize the need for future Alzheimer's disease research to prioritize social determinants of brain health including their intersectionality with gender and how to inform targeted interventions.

Massed treatment of posttraumatic stress disorder, traumatic brain injury, and co-occurring conditions: the Home Base intensive outpatient program for military veterans and service members

The two-week Home Base Intensive Clinical Program (ICP) provides treatment to veterans and active duty service members suffering from primary diagnoses of posttraumatic stress disorder (PTSD), traumatic brain injury (TBI), anxiety, or depression. First launched in 2015, this paper provides a programmatic update, including new treatment components implemented since inception, and examines outcomes for all participants who entered the program from September 2015 to July 2024 (n = 2561). The Home Base ICP provides a massed care approach through daily individual Prolonged Exposure, Cognitive Processing Therapy, Unified Protocol, or cognitive rehabilitation, along with groups targeting coping skills. Participants entering the program are provided with core group programming, as well as individualized therapy sessions tailored to their unique needs and symptom presentation. Supplemental dual recovery support is also available for all participants with co-occurring substance use or behavioral addiction concerns. Participants' support people receive education, support, and case management services. Participants have a multidisciplinary team comprising therapists, psychopharmacology providers, case managers, nurses, and wellness providers. Results demonstrate that program participants exhibited statistically significant reductions in PTSD symptoms (Cohen's d = 0.80), depression (d = 0.68), post-concussion symptoms (d = 0.71), and increased satisfaction in social roles (d = -0.65). Completion rate was 94.60% (n = 2422), suggesting that the Home Base ICP is a well-received and effective model of care for veterans and service members.

Multidisciplinary management of gastroesophageal reflux disease: an italian retrospective study

Abstract Background Millions of individuals are affected by gastroesophageal reflux disease (GERD) that causes significant discomfort negatively affecting patients’ overall quality of life. For a collaborative approach of continuous improvement in public health we wanted to know the real-world perspectives in the multidisciplinary and multimodal management pathway. Methods We aimed to interview a sample of gastroenterologists (GE), primary care physicians (GP), and otolaryngologists (ENT) to investigate the management of the intake and treatment of patients reporting symptoms of GERD. Symptoms were divided into typical and extraesophageal, and their severity and impact on quality of life was explored with the GERD Impact Scale (GSI) and Reflux Symptom Index (RSI). Results A total of 6211 patients were analyzed of whom with typical symptoms were 53.5%, while those with extraesophageal symptoms were 46.5%. The latter were more frequently reported by ENT patients (53.6%, p < 0.0001). GSI was highest in patients followed by GE (9 points) and GP (9 points) than ENT specialists (8 points), while the RSI was higher in the ENT group (14.3 ± 6.93) than in the groups of GP and GE, respectively (10.36 ± 6.36 and 10.81 ± 7.30, p < 0.0001). Chest pain had the greatest negative impact on quality of life (p < 0.0001). Of the 3,025 patients who used (proton pump inhibitors) PPIs, non-responders had a lower GSI when treated with a combination of adjunctive drug treatments and bioadhesive compounds, compared with single-component drugs. Conclusions The multidisciplinary and multimodal approach to the management pathway of GERD patients reveals variations in patient profiles by physician specialty, directing toward more appropriate and targeted treatments. In addition, the combination of adjunctive drug treatments and bioadhesive compounds appears to be effective in the management of patients refractory to PPIs. Key messages • The presentation of GERD symptoms is different in accordance with the physician’s speciality: the patients with GERD referred to a gastroenterologist had more severe disease and poorer quality of life. • The combination of adjunctive pharmacological treatments and bioadhesive compounds seems to be effective in the management of PPI refractory patients.

Clinical and cytological characteristics of malignant pericardial effusion and estimation of the rate of progression until its evacuation by pericardiocentesis

Abstract Introduction Pericardial effusion (PE) is a complication of neoplastic processes that worsens the prognosis and can lead to symptomatic presentations requiring pericardiocentesis (PC). There is limited literature regarding the evolution of PE from its onset to the need for PC, characteristics of these patients, progression rate of PE, and potential accelerating factors. Purpose This study aims to: i) Analyze the baseline characteristics of patients undergoing PC; ii) Evaluate the correlation between PE appearance and cytology; iii) Analyze the progression rate until PC performance. Methods This retrospective observational study includes patients with active neoplasia and significant symptomatic PE treated with PC at our hospital from 01/01/2010 to 06/30/23, with subsequent follow-up until 10/31/23. Clinical characteristics related to neoplastic processes and PE diagnosis were analyzed, including PE appearance, cytology, and computed tomography scans performed as neoplasia follow-up prior to PC. Results A total of 75 patients were included, with 6 excluded because of non-malignant conditions (2 acute pericarditis-related PE, 3 purulent PE, and 1 chylous PE). The remaining 69 patients had a median age of 59 years, with 55.1% being male. Lung neoplasm was most frequent (63.8%, with 84% adenocarcinoma), followed by lymphomas/lymphoid leukemia (7.3%), upper digestive tract (7.3%), and breast cancer (7.3%). 52.2% of PEs undergoing PC were diagnosed simultaneously with neoplasm (70.45% associated with pulmonary neoplasms); 43.5% had ECOG 1, and 89.9% had metastases (excluding PE) at PC. Cardiac tamponade was present in 27.5%, with percutaneous pericardiostomy added in 21.7%. PE appearance was sero-haematic in 49.3%, haematic in 36.2%, and serous in 14.5%. Cytology showed mostly positive results (69.2%: 50% in serous PE and 71.93% in haematic/sero-haematic PE). The median time from the last CT scan prior to PE to PC was 5 months (160 days, range: 24-943 days). PC recurrence was observed in 30.4% of cases. Follow-up mortality was 82.6%, higher in breast, renal, digestive, thymoma, and genital neoplasms (100%), with hematological neoplasms having the lowest mortality (40%), followed by pulmonary neoplasms (79.5%). Mortality was higher in patients with more lines of treatment at PC and with a higher number of metastases. The median time from PC to death was 2 months (68.5 days, range: 1 day-2007 days). Conclusions The most common neoplastic PE was associated with lung adenocarcinoma, though a variety of neoplasms were observed. Half of PEs were diagnosed concurrently with neoplasm diagnosis. Cytology sensitivity was not high, and PE appearance did not adequately predict outcomes. The median time from the last CT scan prior to PE to PC was 5 months, potentially guiding echocardiographic follow-up once PE is observed on CT. Overall mortality was high (82.6%), except for onco-hematological PE.Iconographic summary of malignant PE

Estimating the impact of the COVID-19 vaccination programme in Ireland: December 2021-March 2023

Abstract Background In Autumn 2023, COVID-19 booster vaccines were offered to all those aged ≥50 years in Ireland. There was concern that vaccine fatigue would impact uptake. We aimed to quantify the direct impact of the COVID-19 vaccination programme on averted outcomes in individuals aged ≥50 years, during a period of Omicron variant dominance, to inform vaccination strategy and public health communication. Methods We conducted a retrospective observational study from December 2021 to March 2023 in Ireland. We considered as averted outcomes symptomatic SARS-CoV-2 presentations to primary care, emergency department (ED) presentations, hospitalisations, intensive care unit (ICU) admissions and deaths due to COVID-19. We used an adapted formula from other vaccine impact published studies, including national data on notified outcomes, vaccine coverage data and vaccine effectiveness (VE) estimates, sourced from the WHO’s live systematic VE review, to estimate the count and prevented fraction of outcomes in ≥ 50-year-olds averted by the COVID-19 vaccination programme. The number of expected outcomes in the absence of vaccination was calculated by summing the counts of outcomes observed and outcomes averted. Results Between December 2021 and March 2023, the COVID-19 vaccination programme averted 48,551 symptomatic presentations to primary care (36% of expected), 9,517 ED presentations (53% of expected), 102,160 hospitalisations (81% of expected), 3,303 ICU admissions (89% of expected) and 15,985 deaths (87% of expected). Conclusions During Omicron dominance, the COVID-19 vaccination programme averted symptomatic and severe outcomes, including deaths due to COVID-19, underscoring the benefits of COVID-19 vaccination. In the context of vaccine fatigue emerging as an important public health issue in Ireland and internationally, these findings can inform future COVID-19 booster vaccination programmes and communication about the reason for and importance of COVID-19 vaccination. Key messages • The COVID-19 vaccination programme in Ireland prevented illness and death in people aged ≥50-years. Vaccination therefore protected population health and the healthcare system. • These findings can be used to inform future COVID-19 vaccination policies, planning for winter, pandemic preparedness and communisation about the importance of ongoing COVID-19 vaccination programmes.

Comparison of clinical symptoms and prognosis of non-post-menopausal women to age matched men admitted with ST-elevation myocardial infarctions

Abstract Background Although ST-elevation-myocardial infarctions (STEMI) in women before menopause are relatively uncommon, previous studies have shown that women in general are more likely to present with atypical symptoms and to show higher adverse event rates, which might at least be attributable to the on average higher age of women during the index event. Aim of the present study was therefore to compare in an age-matched cohort of STEMI-patients younger 55 years the likelihood of atypical symptoms between genders and to investigate the impact of female gender on short and long-term-outcome. Methods Patients <55 years of age with STEMI admitted between 2006 and 2022 to a German heart center were included in the analysis and women were compared to men with regard to clinical symptoms and outcome. To exclude local bias women of all ages with STEMI from the registry were compared to men in a control group. Results Of 12094 STEMI-patients in the total cohort 3343 (28%) were women and 8751 (72%) were men. Women had a mean age of 69.7±13 yrs. compared to 62.2±12 in men. Women with STEMI had a 40% higher chance to present without typical chest pain (no CP, 12.0% vs. 8.5%, p<0.01) and were more likely to present with dyspnea (26.1% vs. 22.7% p<0.01). While rates of late STEMI-presenters were numerically higher in women, this difference failed to reach significance (12.8% vs. 11.9%, p=0.16). When focusing however on the study group (<55 yrs. of age) there was no more age difference (women 47.2±6 yrs. vs. 47.5±6 yrs. in men, p<0.3) and rates of no CP were not different between genders: 5.7%(women) vs. 5.4% (men), p=0.79, nor were rates of dyspnea : 20.0% (women) vs. 18.5% (men), p=0.45. There was even a trend towards lower rates of late STEMI-presenters in women: 8.3% vs. 10.9% in men, p=0.077, although diabetes-rates were higher in women (16.9% vs. 11.8%, p<0.01). Despite similar initial symptom presentations, women showed a marked 60% increase in 30-day- (6.9% vs. 4.3%, p=0.017) and 1-year-mortality (8.7% vs. 5.3%, p<0.01). The disadvantage for women remained, when adjusting mortality rates for confounders (age, diabetes, anterior STEMI, multivessel disease, PCI result) in a Cox regression model (table, upper part). This could be confirmed in a subgroup multivariate analysis excluding patients with no CP or not undergoing emergency PCI (table, lower part). Conclusions In STEMI-patients younger 55 years women showed a more than 60% higher short- and long-term-mortality compared to their male peers. This disadvantage, at least with our data, cannot be sufficiently explained by higher rates of delayed STEMI-presentations or absence of typical chest pain. Further studies are needed to identify possible causes for this higher vulnerability of young women to acute myocardial infarctions.Table:Mortality in Women vs. men<55 yrs

Determinants of symptom presentation and resolution following concussions in high school sports

ABSTRACT Sport-related concussions (SRCs) are prevalent in high school (HS) sports, though the determinants of, and relationships between concussion symptoms in this population remain relatively unknown. We analysed SRC data captured within the HS RIO injury surveillance system during 2014/15-2018/19. We used Generalized Estimating Equations to simultaneously assess covariate predictors of symptom presentations and identify pairwise symptom associations and employed multivariable ordinal logistic regressions to determine symptom resolution time (SRT) predictors. Among the 8,969 concussions assessed, headaches (94.3%) and dizziness (73.3%) were the most prevalently reported symptoms. In 5,953 boys’ concussion assessed, class year, event type and injury mechanism emerged as determinants of various concussion symptoms, while in 3,016 girls’ concussions assessed, class year, event type, injury mechanism, and sport type emerged as significant symptom determinants. In both groups, difficulty concentrating, sensitivity to light, sensitivity to noise, and disorientation were symptoms with the strongest associations with other symptoms. Odds of longer SRT were higher with greater endorsement (i.e. counts) of the subset of symptoms with strongest cross-domain associations (ORadj. = 1.35; 95% CI = [1.30, 1.40]). Our findings provide valuable information for informing sideline and follow-up clinical concussion assessment algorithms in high school athletes.

Multinodular Vacuolating Neuronal Tumors: Symptomatic Presentation Versus Incidental Finding: Case Series and Literature Review

Background: Multinodular Vacuolating Neuronal Tumors (MVNTs) are mixed glial–neuronal brain lesions classified as World Health Organization (WHO) CNS grade 1 tumors, often associated with long-term epilepsy. First described by Huse et al. in 2013 and included in the WHO CNS classification in 2016, MVNTs present a range of clinical manifestations, from symptomatic to asymptomatic. They typically affect young to middle-aged adults and exhibit diverse presentations. Radiologically, MVNTs are usually supratentorial, frequently located in the temporal lobe but also observed in the frontal and parietal lobes. MRI is essential for diagnosis, revealing multiple coalescing subcortical or cortical nodules with hyperintense signals on T2-weighted/FLAIR sequences, often without peripheral edema or mass effects. Case Reports: This paper presents two cases: one symptomatic MVNT with significant clinical manifestations, and the other documenting an incidental finding of MVNT in an asymptomatic patient. One case shows typical temporal lobe localization, while the other highlights a rare frontal lobe localization, with clear radiological findings on T2/FLAIR sequences. Conclusions: These cases illustrate the varied clinical presentations of MVNTs and emphasize MRI’s critical role in diagnosis and management. Asymptomatic cases often require conservative management, stressing the avoidance of unnecessary invasive procedures and the importance of regular monitoring.

Interpersonal symptoms in adolescence depression across Asian and European regions: a network approach

BackgroundMajor Depressive Disorder (MDD) poses a significant global health challenge, with symptom presentation potentially varying between adolescents and adults. Adolescence is a critical period marked by heightened vulnerability to interpersonal stresses, yet the impact of these stresses on the structure of depressive symptoms is not well understood. Recognizing the cultural nuances in how depression manifests among adolescents is crucial. To this end, this paper employs a network analysis approach, utilizing a comprehensive symptom checklist from the Multidimensional Depression Assessment Scale (MDAS). Our study investigates the role of interpersonal symptoms within the broader cluster of emotional, cognitive, and somatic symptoms and explores variations in adolescent groups in four Asian and European regions.MethodsWe recruited a diverse sample of 6,348 adolescents aged 12 to 18 from Hong Kong, Taiwan, the UK, China, and the Netherlands using the Qualtrics platform. Employing the Gaussian Graphical Model, we established a network model of depressive symptoms as measured by the MDAS, segregating the sample into Asian and European regions to examine the interconnections between them. The study focused on identifying central symptom nodes and comparing the network structures between the two groups.ResultsThe analysis identified feeling worthless, low energy, being a burden to others, and low mood as central symptoms of depression. Notably, there were significant differences in the connections between depressive symptoms among Asian (Hong Kong, China and Taiwan) and European (UK and the Netherlands) adolescents, highlighting cultural variations in how interpersonal symptoms interact with emotional, cognitive, and somatic symptoms.ConclusionThis study is pioneering in applying network analysis to include interpersonal symptoms in examining depression among a diverse adolescent population. It demonstrates that interpersonal symptoms are integral to the central features of depressive symptoms. Furthermore, our findings suggest that, compared to their UK and Dutch peers, interpersonal symptoms in Asian adolescents are uniquely connected to other symptom clusters, reflecting distinct cultural patterns. Limitations: The study engaged a broad community sample; however, future research could benefit from including a larger sample size to allow for a more detailed analysis of a greater number of symptom nodes.

Meckel's diverticulum: A challenging diagnosis

AbstractObjectivesThis single‐center, cross‐sectional study aims to elucidate the clinical presentation, diagnostic evaluation, and outcomes in a subset of pediatric patients with atypical and/or challenging presentations of Meckel's diverticulum.MethodsWe conducted a single‐center cross‐sectional study on children diagnosed with Meckel's diverticulum at Children's Health in Dallas, Texas between 2010 and 2022. We identified 11 patients aged 0–17‐years‐old with confirmed Meckel's diverticulum who presented with atypical symptoms and/or a challenging diagnostic course. Patient demographics, symptoms at presentation, diagnostic workup, time to diagnosis, management, and outcomes were collected. Descriptive statistics were utilized.ResultsEleven patients (n = 8, 73% male) were included in the study with an average age of 10.5 years (range: 1–17 years). The mean time interval from initial presentation of symptoms to diagnosis was 8 months (range: 0–33 months). Barriers to diagnosis of Meckel's diverticulum identified in our study included atypical presentations, negative or nonconfirmatory Meckel scan results, negative surgical findings, and competing differential diagnoses.ConclusionMeckel's diverticulum is a challenging diagnosis and should be considered even if initial evaluation is negative as certain patients exhibit atypical presentations that necessitate surgical intervention for diagnosis.

Sputum and tongue swab molecular testing for the in-home diagnosis of tuberculosis in unselected household contacts: a cost and cost-effectiveness analysis.

Delayed and missed diagnosis are a persistent barrier to tuberculosis control, partly driven by limitations associated with sputum collection and an unmet need for decentralized testing. Household contact investigation with point-of-care testing of non-invasive specimens like tongue swabs are hitherto undescribed and may be a cost-effective solution to enable community-based active case finding. In-home, molecular point-of-care testing was conducted using sputum and tongue specimens collected from all household contacts of confirmed tuberculosis cases. A health economic assessment was executed to estimate and compare the cost and cost-effectiveness of different in-home, point-of-care testing strategies. Incremental cost effectiveness ratios of strategies utilizing different combination testing algorithms using sputum and/or tongue swab specimens were compared. The total implementation cost of delivering the standard of care for a 2-year period was $84 962. Strategies integrating in-home point-of-care testing ranged between $87 844 - $93 969. The cost-per-test for in-home, POC testing of sputum was the highest at $20·08 per test. Two strategies, Point-of-Care Sputum Testing and Point-of-Care Combined Sputum and Individual Tongue Swab Testing were the most cost-effective with ICERs of $543·74 and $547·29 respectively, both below a $2,760 willingness-to-pay threshold. An in-home, point-of-care molecular testing strategy utilizing combination testing of tongue swabs and sputum specimens would incur an additional 10.6% program cost, compared to SOC, over a 2-year period. The increased sample yield from tongue swabs combined with immediate result notification following, in-home POC testing would increase the number of new TB cases detected and linked to care by more than 800%. Evidence before this study: We searched PubMed for original research published between January 1, 1950 and June 30, 2024 that evaluated the cost-effectiveness of in-home POC molecular testing, as part of HCI strategies for tuberculosis. PubMed search terms used included ["household contact investigation" OR "household contact tracing"] AND "tuberculosis" AND "cost-effectiveness". The search revealed 8 studies, of which one was removed as HCIs were leveraged for the provision of short course preventative therapy and not tuberculosis testing. None of the studies were conducted in South Africa. All seven remaining studies relied on a hub-and-spoke model of sputum collection and transportation with sputum tested at a centralized laboratory facility. Although active case finding strategies like HCIs are endorsed by the WHO to improve early case detection and treatment initiation, limited research has been done to assess its cost-effectiveness in low- and middle-income countries.Added value of this study: To our knowledge, this is the first example of in-home molecular point-of-care (POC) testing as part of HCI. The use of primary data to estimate and compare the incremental cost effectiveness of different combination, in-home testing strategies utilizing alternative sample types equips policy makers with a selection of strategy options to choose from. The tradeoff between sample types with high collection yield and those with increased accuracy becomes evident in the economic analysis, highlighting the need to consider both yield and accuracy in effective clinical decision making and use-case development. The success of in-home, POC tongue swab testing of all contacts, irrespective of symptom presentation shows great promise for universal testing programs.Implications of all available evidence: Results from our economic modeling provide evidence in support for the integration of in-home, POC tuberculosis (TB) testing during HCI. The use of less invasive tongue swab samples to increase sample yield in the absence of sputum expectoration highlights the value of combination testing strategies. Immediate result notification resulting from rapid, in-home POC testing shows great promise for increasing early case detection and improving treatment uptake. In-home, POC testing strategies, when incorporated into HCI could curb ongoing community transmission and reduce the overall burden of TB. Considerations for adopting novel POC testing strategies in future active case finding programs like HCI should strongly be considered. We evaluated the cost-effectiveness of in-home, point-of-care TB testing of household contacts. The findings indicate that combined testing strategies using tongue swab and sputum specimens could significantly increase TB case detection, with modest additional program costs.

Multiple sclerosis subgroups: Data-driven clusters based on patient-reported outcomes and a large clinical sample.

While standard clinical assessments provide great value for people with multiple sclerosis (PwMS), they are limited in their ability to characterize patient perspectives and individual-level symptom heterogeneity. To identify PwMS subgroups based on patient-reported outcomes (PROs) of physical, cognitive, and emotional symptoms. We also sought to connect PRO-based subgroups with demographic variables, functional impairment, hypertension and smoking status, traditional qualitative multiple sclerosis (MS) symptom groupings, and neuroperformance measurements. Using a cross-sectional design, we applied latent profile analysis (LPA) to a large database of PROs; analytic sample N = 6619). We identified nine distinct MS subtypes based on PRO patterns. The subtypes were primarily categorized into low, moderate, and high mobility impairment clusters. Approximately 70% of participants were classified in a low mobility impairment group, 10% in a moderate mobility impairment group, and 20% in a high mobility impairment group. Within these subgroups, several unexpected patterns were observed, such as high mobility impairment clusters reporting low non-mobility impairment. The present study highlights an opportunity to advance precision medicine approaches in MS. Combining PROs with data-driven methodology allows for a cost-effective and personalized characterization of symptom presentations. that can inform clinical practice and future research designs.

Hypophysitis in COVID-19: a systematic review.

This systematic review aims to collect and examine recent research findings regarding hypophysitis in COVID-19 patients. We conducted a comprehensive literature review in English on the topic "Hypophysitis in COVID-19," using the MEDLINE (PubMed) database in July 2024. The selected articles were systematically tabulated and we have assessed in this review patient demographics, symptom presentation, imaging results, diagnosis, clinical management, and outcomes. Seven reported cases of post-COVID-19 hypophysitis were identified, comprising 4 (57%) females and 3 (43%)males, with a median age of 37 years. The interval between COVID-19 infection symptoms and the onset of hypophysitis ranged from 2 to 3 weeks. Initial symptoms included frontal headache in 4 (57%) cases and polyuria and polydipsia in 3 (43%)cases. Anterior or posterior hypopituitarism was observed in 6 (85%)patients. Radiological findings varied: 2 (28.5%) cases showed panhypophysitis, 3 (43%) cases exhibited gland enlargement with homogeneous contrast enhancement on magnetic resonance imaging (MRI), 1 case involved the loss of the posterior pituitary bright spot, and 1 case involved pituitary apoplexy/enlargement of the gland and infundibulum. No pituitary biopsies were performed. Four (57%) patients received glucocorticoid (GC) treatment. Long-term follow-up was documented in only one case, a 16-year-old female followed for 2 years reporting complete clinical and radiological resolution. Although rare, hypophysitis related to COVID-19 is documented in the literature exhibiting distinct characteristics such as a homogeneous gender prevalence, an average age of onset around 35 years, and primary symptoms of headache, polyuria, and polydipsia which are indicative of angiotensin-vasopressin deficiency. This is in contrast with primary autoimmune hypophysitis characterized by a female prevalence and typical symptoms with headache and visual impairment. Longer-term follow-up of these patients is needed to better understand the potential lasting impact on pituitary function and radiological improvement. Future research should also explore the presence of anti-pituitary antibodies and the other possible pathophysiological mechanisms potentially involved in these cases.

Deaths from asthma: a series of cases and their presentations, and the impact on local and global health

Abstract Introduction/Objective Asthma is a lung disease usually characterized by chronic inflammation that affects at least 300 million people globally at all life stages. Asthma is defined by respiratory symptoms such as coughing, wheezing, shortness of breath, and chest tightness with expiratory airflow limitation.The prevalence of asthma is increasing worldwide. Asthma is often under-diagnosed and under-treated, particularly in low- and middle-income countries. Severe disease can result in reduced quality of life or even premature death. Epidemiologic studies are being utilized to compare international incidences of asthma between populations so that etiologic mechanisms involved in the development of asthma can be discovered through research. Asthma prevalence studies require large numbers and high response rates amongst a random population to establish prevalence and severity with reasonable precision. Despite advances in treatments, guidelines, and preventable factors, deaths from asthma account for 250,000 premature deaths each year. Pathology has a key role in asthma identification through examination endobronchial biopsies and whole lung postmortem examination Methods/Case Report We present a series of asthma deaths with variable clinical presentations and histopathologic findings. The postmortem gross and histologic findings highlight the varying severities that asthma can have on the lungs. Knowledge of the clinical symptom presentations, identification of gross findings, appropriate sampling of lung tissue, identification of microscopic acute and chronic features help identify asthma related changes. Understanding common lifestyle, environmental, genetic, and medical care factors that serve as asthma triggers and their role in the onset or continuation of an acute exacerbation will allow for accurate determination of cause, contributing cause, and manner of death. This information, listed on the death certificate, is what helps correlate asthma prevalence with mortality allowing for appropriate allocation of funds for research, prevention and treatment. Results (if a Case Study enter NA) EP abstract Conclusion Outlined are the impacts that asthma can have on individuals, communities, and health systems globally but also ways to identify when death may be or is likely the result of asthma. While asthma cannot be cured, measuring the prevalence of disease and accurately determining asthma as the cause or contributing cause of death can help raise awareness and mitigate the consequences of severe disease.

Bicuspid Aortic Valve in Children and Young Adults for Cardiologists and Cardiac Surgeons: State-of-the-Art of Literature Review.

Bicuspid aortic valve disease is the most prevalent congenital heart disease, affecting up to 2% of the general population. The presentation of symptoms may vary based on the patient's anatomy of fusion, with transthoracic echocardiography being the primary diagnostic tool. Bicuspid aortic valves may also appear with concomitant aortopathy, featuring fundamental structural changes which can lead to valve dysfunction and/or aortic dilatation over time. This article seeks to give a comprehensive overview of the presentation, treatment possibilities and long-term effects of this condition. The databases MEDLINE, Embase, and the Cochrane Library were searched using the terms "endocarditis" or "bicuspid aortic valve" in combination with "epidemiology", "pathogenesis", "manifestations", "imaging", "treatment", or "surgery" to retrieve relevant articles. We have identified two types of bicuspid aortic valve disease: aortic stenosis and aortic regurgitation. Valve replacement or repair is often necessary. Patients need to be informed about the benefits and drawbacks of different valve substitutes, particularly with regard to life-long anticoagulation and female patients of childbearing age. Depending on the expertise of the surgeon and institution, the Ross procedure may be a viable alternative. Management of these patients should take into account the likelihood of somatic growth, risk of re-intervention, and anticoagulation risks that are specific to the patient, alongside the expertise of the surgeon or centre. Further research is required on the secondary prevention of patients with bicuspid aortic valve (BAV), such as lifestyle advice and antibiotics to prevent infections, as the guidelines are unclear and lack strong evidence.