Screening Test For Disease Research Articles

Sensitivity And Specificity of FEF25–75/Forced Vital Capacity for Diagnosing Restrictive Lung Disease

Introduction and objective: The role of spirometry in the diagnosis of restrictive lung diseases is unclear. This study investigated the sensitivity and specificity of the forced expiratory flow 25–75 (FEF25–75)/forced vital capacity (FVC) parameter in diagnosing restrictive lung disease. Methods: In this study, the records of all restrictive patients who were referred to the pulmonary centre of Imam Khomeini Hospital, Tehran, Iran, from March 2021–March 2022 have been reviewed, and the indexes in the body box and spirometry have been recorded. Results: A total of 527 people were included in the study. Among them, 134 people (25.4%) had restrictive lung disease. The average area under the graph of the FEF25–75/FVC index is 0.648±0.028. It can be said that the area under the graph for the FEF25–75/FVC index is between 0.594–0.703. The FEF25–75/FVC index at values above 79.90 has a sensitivity of 70.9% and a false positive rate (1- specificity) of 53.2%. Conclusions: According to the result of this study, the ratio of FEF25–75/FVC index in spirometry at above 79.90 has a sensitivity of 70.9% and a false positive rate (1- specificity) of 53.2%. Therefore, it can be used as a screening test for restrictive lung diseases.

Sensitivity And Specificity of FEF25–75/Forced Vital Capacity for Diagnosing Restrictive Lung Disease

Introduction and objective: The role of spirometry in the diagnosis of restrictive lung diseases is unclear. This study investigated the sensitivity and specificity of the forced expiratory flow 25–75 (FEF25–75)/forced vital capacity (FVC) parameter in diagnosing restrictive lung disease. Methods: In this study, the records of all restrictive patients who were referred to the pulmonary centre of Imam Khomeini Hospital, Tehran, Iran, from March 2021–March 2022 have been reviewed, and the indexes in the body box and spirometry have been recorded. Results: A total of 527 people were included in the study. Among them, 134 people (25.4%) had restrictive lung disease. The average area under the graph of the FEF25–75/FVC index is 0.648±0.028. It can be said that the area under the graph for the FEF25–75/FVC index is between 0.594–0.703. The FEF25–75/FVC index at values above 79.90 has a sensitivity of 70.9% and a false positive rate (1- specificity) of 53.2%. Conclusions: According to the result of this study, the ratio of FEF25–75/FVC index in spirometry at above 79.90 has a sensitivity of 70.9% and a false positive rate (1- specificity) of 53.2%. Therefore, it can be used as a screening test for restrictive lung diseases.

Independent Associations of Incident Epilepsy and Enzyme-Inducing and Non–Enzyme-Inducing Antiseizure Medications With the Development of Osteoporosis

Both epilepsy and enzyme-inducing antiseizure medications (eiASMs) having varying reports of an association with increased risks for osteoporosis. To quantify and model the independent hazards for osteoporosis associated with incident epilepsy and eiASMS and non-eiASMs. This open cohort study covered the years 1998 to 2019, with a median (IQR) follow-up of 5 (1.7-11.1) years. Data were collected for 6275 patients enrolled in the Clinical Practice Research Datalink and from hospital electronic health records. No patients who met inclusion criteria (Clinical Practice Research Datalink-acceptable data, aged 18 years or older, follow-up after the Hospital Episode Statistics patient care linkage date of 1998, and free of osteoporosis at baseline) were excluded or declined. Incident adult-onset epilepsy using a 5-year washout and receipt of 4 consecutive ASMs. The outcome was incident osteoporosis as determined through Cox proportional hazards or accelerated failure time models where appropriate. Incident epilepsy was treated as a time-varying covariate. Analyses controlled for age, sex, socioeconomic status, cancer, 1 or more years of corticosteroid use, body mass index, bariatric surgery, eating disorders, hyperthyroidism, inflammatory bowel disease, rheumatoid arthritis, smoking status, falls, fragility fractures, and osteoporosis screening tests. Subsequent analyses (1) excluded body mass index, which was missing in 30% of patients; (2) applied propensity score matching for receipt of an eiASM; (3) restricted analyses to only those with incident onset epilepsy; and (4) restricted analyses to patients who developed epilepsy at age 65 years or older. Analyses were performed between July 1 and October 31, 2022, and in February 2023 for revisions. Of 8 095 441 adults identified, 6275 had incident adult-onset epilepsy (3220 female [51%] and 3055 male [49%]; incidence rate, 62 per 100 000 person-years) with a median (IQR) age of 56 (38-73) years. When controlling for osteoporosis risk factors, incident epilepsy was independently associated with a 41% faster time to incident osteoporosis (time ratio [TR], 0.59; 95% CI, 0.52-0.67; P < .001). Both eiASMs (TR, 0.91; 95% CI, 0.87-0.95; P < .001) and non-eiASMs (TR, 0.77; 95% CI, 0.76-0.78; P < .001) were also associated with significant increased risks independent of epilepsy, accounting for 9% and 23% faster times to development of osteoporosis, respectively. The independent associations among epilepsy, eiASMs, and non-eiASMs remained consistent in propensity score-matched analyses, cohorts restricted to adult-onset epilepsy, and cohorts restricted to late-onset epilepsy. These findings suggest that epilepsy is independently associated with a clinically meaningful increase in the risk for osteoporosis, as are both eiASMs and non-eiASMs. Routine screening and prophylaxis should be considered in all people with epilepsy.

Screening for Pompe Disease in High-Risk Pediatric Patients: Experience from a Tertiary Care Center in Rajasthan

AbstractA high index of suspicion is required to diagnose rare genetic disorders, such as Pompe disease, with common clinical manifestations in children. There is a need to sensitize physicians regarding cues to early screening and diagnosis of such patients. Minimal epidemiological data are available on Pompe disease in India. The aim of this study was to determine the prevalence of Pompe disease in high-risk pediatric populations and determine the appropriateness of screening dried blood spot (DBS) tests to facilitate the diagnosis of Pompe disease. We screened pediatric patients presented with (1) unexplained hypotonia, respiratory distress, cardiomyopathy, and elevated liver function tests; and (2) unexplained limb girdle muscle weakness through a DBS test for enzyme assay. Those patients found positive underwent acid alpha-glucosidase mutational analysis. This prospective cross-sectional study was conducted in 45 suspected patients after approval from the institutional ethical committee. Of the 45 suspected patients, 9 (20%) were found to be positive by DBS test. Out of these nine tested, four (44.4%) were positive, two (22.2%) were negative, and three (33.3%) could not be tested for mutation analysis. The prevalence of genetically confirmed Pompe disease in high-risk populations was 8.8%. The results of this study show that clinical suspicion and DBS filter paper test facilitate early diagnosis and management, thereby improving the quality of life in patients. DBS test acts as a robust, rapid first-tier screening test for Pompe disease.

Efficacy of Paper Based Screening Test for Sickle Cell Disease

Efficacy of Paper Based Screening Test for Sickle Cell Disease

Prevalence and detection rate of celiac disease in Italy: Results of a SIGENP multicenter screening in school-age children.

Celiac disease is a common lifelong disorder. Recent studies indicate that the number of clinically detected cases has increased over the last decades, however little is known about changes in the prevalence and the detection rate of celiac disease. To evaluate the current prevalence and detection rate of celiac disease in Italy by a multicenter, mass screening study on a large sample of school-age children. children aged 5-11 years were screened at school by HLA-DQ2 and -DQ8 determination on a drop of blood in six Italian cities; total serum IgA and IgA anti-transglutaminase were determined in children showing HLA-DQ2 and/or -DQ8 positivity. Diagnosis of celiac disease was confirmed according to the European guidelines. 5994 children were eligible, 4438 participated and 1873 showed predisposing haplotypes (42.2%, 95% CI=40.7-43.7). The overall prevalence of celiac disease was 1.65% (95% CI, 1.34%-2.01%). Only 40% of celiac children had been diagnosed prior to the school screening. Symptoms evoking celiac disease were as common in celiac children as in controls. In this multicenter study the prevalence of celiac disease in school-age Italian children was one of the highest in the world. Determination of HLA predisposing genotypes is an easy and fast first-level screening test for celiac disease. Without a mass screening strategy, 60% of celiac patients remain currently undiagnosed in Italy.

Comparison of the telephone-Montreal Cognitive Assessment (T-MoCA) and Telephone Interview for Cognitive Status (TICS) as screening tests for early Alzheimer's disease.

Remote screening for cognitive impairment associated with Alzheimer's disease (AD) has grown in importance with the expected rise in prevalence of AD in an aging population and with new potential treatment options. The Telephone Interview for Cognitive Status (TICS) and new telephone adaptation of the Montreal Cognitive Assessment (T-MoCA) were administered to participants independently classified through in-person clinical evaluation as cognitively normal (CN; n = 167), mild cognitive impairment (MCI; n = 25), or dementia (n = 23). Cerebrospinal fluid AD biomarkers were measured (n = 79). TICS and T-MoCA were highly correlated (r = 0.787; P <0.001): groups differed on both (CN<MCI<dementia; TICS: F [2212] = 156.66; P <0.001; T-MoCA: F [2210] = 143.72; P <0.001), both effectively detected cognitive impairment (receiver operating characteristic area under the curve: TICS = 0.889; T-MoCA = 0.902), and both negatively correlated with a composite AD biomarker (tau/amyloid beta 1-42; TICS: r = -0.372; P = 0.001; T-MoCA: r = -0.480; P <0.001). TICS and T-MoCA are effective for remotely detecting cognitive impairment associated with AD in older adults. Strong correlation between tests provides construct validity for the newer T-MoCA. Construct validity for the telephone adaptation of the Montreal Cognitive Assessment (T-MoCA) was newly established against the Telephone Interview for Cognitive Status (TICS). TICS and T-MoCA effectively detected cognitive impairment with remote administration. Both tests negatively correlated with a composite cerebrospinal fluid Alzheimer's disease (AD) biomarker (tau/amyloid beta 1-42).

Automatic Segmentation and Classification for Antinuclear Antibody Images Based on Deep Learning.

Antinuclear antibodies (ANAs) testing is the main serological diagnosis screening test for autoimmune diseases. ANAs testing is conducted principally by the indirect immunofluorescence (IIF) on human epithelial cell-substrate (HEp-2) protocol. However, due to its high variability and human subjectivity, there is an insistent need to develop an efficient method for automatic image segmentation and classification. This article develops an automatic segmentation and classification framework based on artificial intelligence (AI) on the ANA images. The Otsu thresholding method and watershed segmentation algorithm are adopted to segment IIF images of cells. Moreover, multiple texture features such as scale-invariant feature transform (SIFT), local binary pattern (LBP), cooccurrence among adjacent LBPs (CoALBP), and rotation invariant cooccurrence among adjacent LBPs (RIC-LBP) are utilized. Firstly, this article adopts traditional machine learning methods such as support vector machine (SVM), k-nearest neighbor algorithm (KNN), and random forest (RF) and then uses ensemble classifier (ECLF) combined with soft voting rules to merge these machine learning methods for classification. The deep learning method InceptionResNetV2 is also utilized to train on the classification of cell images. Eventually, the best accuracy of 0.9269 on the Changsha dataset and 0.9635 on the ICPR 2016 dataset for the traditional methods is obtained by a combination of SIFT and RIC-LBP with the ECLF classifier, and the best accuracy obtained by the InceptionResNetV2 is 0.9465 and 0.9836 separately, which outperforms other schemes.

Serum positivity of serum anti-tissue transglutaminase immunoglobulin A antibodies in Japanese children with inflammatory bowel disease.

Serum anti-tissue transglutaminase immunoglobulin A antibody (tTG-IgA) is a screening test for celiac disease (CeD). In recent years, there have several reports of combined inflammatory bowel disease (IBD) and CeD in children. The purposes of this study are to research the positivity of the tTG-IgA antibody in Japanese children, and whether IBD and CeD co-occur. We examined tTG-IgA as a screening test for CeD in symptomatic pediatric patients with IBD (cases) and those without IBD (controls, non-IBD). Those with tTG-IgA levels of 10U/mL or higher were considered positive. All patients had routine biopsy specimens taken from the second part and bulbus of the duodenum, and were evaluated histologically based on the Marsh classification. Thirty-one patients in the IBD group and 53 patients in the non-IBD group were included. The tTG-IgA was positive in five cases (5.9%) and median titer of positive cases was 12.3U/mL (10.2-41.7). One patient in the IBD group (3.2%) and four patients in the non-IBD group (7.8%) were positive for tTG-IgA. No cases showed histological features of CeD. There were no statistically significant differences in age, sex, symptoms and laboratory tests between the tTG-IgA positive and negative groups. Patients among the IBD and the non-IBD groups that were tTG-IgA positive demonstrated symptoms after wheat consumption. We identified a patient who was positive for tTG-IgA antibodies who experienced abdominal symptoms due to wheat ingestion, indicative of subclinical CeD. Further investigation is needed to clarify the co-occurrence of IBD and CeD among Japanese children.

Pulse Amplitude Measured with a Portable Laser Doppler Flowmeter Is Useful for Screening of Dialysis Patients for Peripheral Arterial Disease: An Observational Study.

Objective: The objective of this study was to use a portable laser Doppler flowmeter (LDF) to measure the toe blood flow and pulse amplitude as a screening test for peripheral arterial disease (PAD) in dialysis patients and compare the diagnostic abilities of the aforementioned parameters measured using an LDF with those of the ankle-brachial index (ABI) and toe brachial index (TBI). Methods: The 14 patients in this retrospective study received maintenance hemodialysis (HD). We measured the blood flow and pulse amplitude on the ventral side of the first toe with a portable LDF while the patients were undergoing an HD session. The correlations between the blood flow/pulse amplitude in the toe and the ABI/TBI were examined. Results: Both the ABI and TBI had a strong correlation with pulse amplitude. The sensitivity and specificity of the pulse amplitude measured with the LDF for detecting PAD in HD patients as determined by a receiver operating characteristic curve analysis were 1.00 and 0.88, respectively. Conclusion: Measuring the pulse amplitude in the toe with a portable LDF may serve as a simple and useful screening test for PAD in HD patients.

A protein microarray-based serum proteomic investigation reveals distinct autoantibody signature in colorectal cancer.

Colorectal cancer (CRC) has been reported as the second leading cause of cancer death worldwide. The 5-year annual survival is around 50%, mainly due to late diagnosis, striking necessity for early detection. This study aims to identify autoantibody in patients' sera for early screening of cancer. The study used a high-density human proteome array with approximately 17,000 recombinant proteins. Screening of sera from healthy individuals, CRC from Indian origin, and CRC from middle-east Asia origin were performed. Bio-statistical analysis was performed to identify significant autoantibodies altered. Pathway analysis was performed to explore the underlying mechanism of the disease. The comprehensive proteomic analysis revealed dysregulation of 15 panels of proteins including CORO7, KCNAB1, WRAP53, NDUFS6, KRT30, and COLGALT2. Further biological pathway analysis for the top dysregulated autoantigenic proteins revealed perturbation in important biological pathways such as ECM degradation and cytoskeletal remodeling etc. CONCLUSIONS AND CLINICAL RELEVANCE: The generation of an autoimmune response against cancer-linked pathways could be linked to the screening of the disease. The process of immune surveillance can be detected at an early stage of cancer. Moreover, AAbs can be easily extracted from blood serum through the least invasive test for disease screening.

Abstract 10822: Familial Hypercholesterolemia in the EMERGE Network: 1-Year Outcomes After Return of Results

Introduction: Relatively little is known about outcomes following return of secondary findings detected in large scale sequencing projects. We assessed 1-year outcomes following return of pathogenic/likely pathogenic (P/LP) variants associated with familial hypercholesterolemia (FH) in phase III of the eMERGE network (2015-2019). Methods: Adult participants (n=18,544) at 7 sites were enrolled in a prospective cohort study to study the clinical impact of returning results from targeted sequencing of 68 actionable genes, including LDLR , APOB , and PCSK9 . Process, intermediate, and/or clinical outcomes within 1-year after return of results (RoR) were ascertained by electronic health record (EHR) review. A process outcome was defined as referral to a specialist or ordering new tests, including lipid profile and screening tests for coronary heart disease. An intermediate outcome was defined as new diagnosis of FH or atherosclerotic cardiovascular disease. A clinical outcome was defined as initiation or change in lipid-lowering medication. The primary outcomes were a new diagnosis of FH and modification of lipid lowering therapy. Results: Results were returned to 134 individuals, and data for 119 participants were available for the outcomes analysis. Process (86%), intermediate (49%), and/or clinical (26%) outcomes occurred in 92% of participants. Process outcomes included 72% with new tests ordered and 61% referred to a specialist. Before RoR, 86.5% of individuals with FH associated P/LP variants had a diagnosis of hypercholesterolemia but only 17.6% had a diagnosis of FH; 89% were on a statin but only 58% were on a high intensity statin. Following RoR, 44% (52/119) received a new diagnosis of FH. Lipid lowering treatment was modified in 26% (31/119), including initiation of a statin in 5%, increasing statin dose in 13%, and adding ezetimibe or a PCSK9 inhibitor in 12.6%. Conclusions: In a multisite cohort of EHR-linked biobanks, monogenic FH was underdiagnosed (only 17.6% had a specific diagnosis) and undertreated (only 58% were on a high intensity statin); 44% of participants received a new diagnosis of FH and 26% had lipid lowering treatment modified after RoR. These results highlight the clinical utility of returning FH variants in EHR-linked biobanks.

Deep-Learning-Based Stroke Screening Using Skeleton Data from Neurological Examination Videos.

According to the Korea Institute for Health and Social Affairs, in 2017, the elderly, aged 65 or older, had an average of 2.7 chronic diseases per person. The concern for the medical welfare of the elderly is increasing due to a low birth rate, an aging population, and the lack of medical personnel. The demand for services that take user age, cognitive capacity, and difficulty into account is rising. As a result, there is an increased demand for smart healthcare systems that can lower hospital admissions and offer patients individualized care. This has motivated us to develop an AI system that can easily screen and manage neurological diseases through videos. As neurological diseases can be diagnosed by visual analysis to some extent, in this study, we set out to estimate the possibility of a person having a neurological disease from videos. Among neurological diseases, we focus on stroke because it is a common condition in the elderly population and results in high mortality and morbidity worldwide. The proposed method consists of three steps: (1) transforming neurological examination videos into landmark data, (2) converting the landmark data into recurrence plots, and (3) estimating the possibility of a stroke using deep neural networks. Major features, such as the hand, face, pupil, and body movements of a person are extracted from test videos taken under several neurological examination protocols using deep-learning-based landmark extractors. Sequences of these landmark data are then converted into recurrence plots, which can be interpreted as images. These images can be fed into convolutional neural networks to classify stroke using feature-fusion techniques. A case study of the application of a disease screening test to assess the capability of the proposed method is presented.

Diagnostic Accuracy of Serum Anti-Tissue Transglutaminase Antibody in Diagnosis of Pediatric Celiac Disease

Background: Celiac disease (CD) is an immune mediated enteropathy that is caused by intolerance to gluten storage protein of wheat bartey and rice. Early diagnosis of celiac disease is highly imperative to institute early intervention in order to prevent profound macronutrient deficiencies as well as long term complications. Diagnostic investigation for celiac disease, the matter of controversy, with endoscopic duodenal biopsy remaining the gold standard but invasive, costly, painful, needing expertise and carrying risks of endoscopy, while serologic tests although noninvasive, cheap, easily available but with disputed specificity and sensitivity. Objective: To find the accuracy and importance of anti-tissue transglutaminase IgA antibody in celiac disease diagnosis and determination in pediatric patients. Place and Duration of Study: Department of Pediatrics, GMMMC Hospital Sukkur from 1st June 2019 to 30th November 2019. Methodology: One hundred and fifty children were suspected celiac diseases were enrolled. Demographic data including age, gender was noted. Duodenal biopsy and upper GI endoscopy of all patients with positive anti-tTG was performed. At least 6 biopsy specimens were taken from first and second part of duodenum and duodenal bulb. Results: Mean age of the children was 8.72±1.92 years. Sensitivity, specificity, PPV and NPV of tTG-IgA in evaluating celiac disease was 86.9%, 84.8%, 88%, 83.6% and 86% respectively. Conclusion: Tissue transglutamianse (TTG) is an excellent screening test for celiac disease in high risk Paediatric population having diagnostic accuracy of 86%. Therefore, it can be safely recommended that patients having even fewer clinical features should be screened by TTG to detect celiac disease patients with minimal signs and symptoms. Keywords: Celiac disease, IgA anti-tissue transglutaminase, Gastrointestinal endoscopy

A scoping review protocol to map the evidence on the risks and benefits of population based diabetic foot screening.

Background: Diabetic foot ulcers are one of the most common lower extremity complications of diabetes, with the lifetime risk of a person developing a DFU estimated to be as high as 34%. It is recommended that those with diabetes receive an annual review of their feet, by a trained healthcare professional, to identify risk factors for ulceration and allow for subsequent risk stratification, patient education and provision of appropriate care to prevent ulceration and amputation. Internationally, while many countries have a diabetic foot care pathway, it is not a structured population health screening programme unlike other areas of preventive care for people with diabetes such as retinopathy screening. A structured diabetic foot screening pathway could allow for earlier identification of the at-risk foot. However, the introduction of any population screening programme should meet the Wilson and Jungner principles of screening. This paper presents a protocol for a scoping review of existing evidence on screening for the at-risk-foot against the Wilson and Junger principles. Methods:The scoping review will be conducted in line with the six-stage methodological framework by Arksey & O'Mally and the Joanna Briggs Institute (JBI) scoping review methodology. Medline (EBSCO), Scopus, ScienceDirect and EMBASE databases will be searched. Studies relating to the burden of diabetic foot ulcers, their pathophysiology and screening tests for peripheral neuropathy and peripheral artery disease, and screening programmes will be included. A data extraction tool will be used to facilitate a chronological narrative synthesis of results. Results: These will bereported in line with the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for Scoping Reviews (PRISMA-ScR). Conclusion: This scoping review will evaluate and map the evidence surrounding diabetic foot ulcers using the Wilson and Jungner principles of screening as a framework.

Analysis of Clinical Value of Urine Routine Combined with Renal Function Test for Kidney Disease Screening

Analysis of Clinical Value of Urine Routine Combined with Renal Function Test for Kidney Disease Screening

Updated upper limits of normal serum alanine aminotrasferase levels for screening metabolic dysfunction-associated fatty liver disease in obese children

Alanine aminotransferase (ALT) is a cost-effective screening test for asymptomatic liver diseases. The aims of this study are to redefine the ULNs of ALT using the 2010-2012 Nutrition and Health Survey in Taiwan (NAHSIT) database and to determine whether the updated ULNs can better screen for metabolic dysfunction-associated fatty liver disease (MAFLD) in obese children. Reference data were obtained from 2895 NAHSIT participants (1442 boys, 1453 girls) aged 6-18 years. Participants with any of MAFLD-related metabolic risk factors, including overweight/obesity, elevated triglyceride, low high-density lipoprotein cholesterol and high fasting glucose, were excluded. This study compared the sensitivities of different ULNs of ALT for detecting MAFLD in our previously established cohort of obese children. The ULNs of ALT defined as the 95th percentile in metabolically healthy NAHSIT participants were 23 IU/L for boys and 18 IU/L for girls. When using the updated ULNs, the percentages of elevated ALT levels were 13.0% in boys and 7.8% in girls of all NAHSIT participants. When using the updated ULNs of ALT to detect MAFLD in obese children, the sensitivity was 84.0% in boys and 74.3% in girls. In contrast, when using the conventional ALT cutoff (>40 IU/L), the sensitivity decreased to 61.4% in boys and 36.4% in girls. After taking into account MAFLD-related metabolic risk factors, the ULNs of ALT are 23 IU/L for boys and 18 IU/L for girls in Taiwan. The updated ULNs may be better cutoffs for screening MAFLD in obese children.

P037 A patient with systemic inflammation, relapsing polychondritis and pancytopaenia: VEXAS

Abstract Background/Aims We report a patient presenting with an inflammatory illness consistent with relapsing polychondritis (RP) and a pancytopaenia. Testing of his bone marrow revealed confirmation of the somatic mutation for the newly recognised condition VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. VEXAS is an acquired, adult-onset autoinflammatory syndrome which is progressive and frequently fatal. First reported in October 2020 by Beck et al, it results from somatic mutations at methionine-41 (p.Met41) of UBA1 gene, the major E1 enzyme that initiates ubiquitylation. Clinical features of VEXAS include periodic fevers, neutrophilic dermatoses, pulmonary infiltrates, chondritis and venous thromboembolic events. Bone marrow biopsy (BMB) shows vacuoles in myeloid precursor cells, and these cause hematologic abnormalities like myelodysplastic syndrome, multiple myeloma, or monoclonal gammopathy of unknown significance. Methods Clinical details were collected retrospectively. UBA1 sequencing: UBA1 exon 3 (NM_153280) was amplified from using High-Fidelity Phusion Polymerase (Life Tech) and primers UBA1-3F and UBA1-3R. PCR products were sequenced using the BigDye v3.1 terminator sequencing kit on an ABI3130xl (Life Tech). Electropherograms were analysed using 4Peaks software. Results A previously fit 63-year-old gentleman presented with a three-month history of recurrent fevers, night sweats and intermittent cough. At presentation he also had left testicular pain. Bloods showed neutropenia (1.9x10^9/L), normocytic anaemia (128g/L) and raised CRP (98mg/L). However, his symptoms progressed with headaches, myalgia, conjunctivitis, nasal chondritis and sinusitis. His CRP rose to 149mg/L and ferritin was 886ng/mL. He had a negative PET scan, autoimmune screen, myeloma screen and normal levels of complement, CK and ACE. Furthermore, multiple blood cultures and infectious disease screening tests were negative. He subsequently developed a left auricular chondritis. Within a week of commencing prednisolone 40mg and methotrexate 15mg his symptoms improved by 80% and his CRP was 10mg/L. At 15mg of prednisolone his CRP rose (134mg/L) and his fevers, night sweats and arthralgia returned. His prednisolone was then increased to 20mg. Over the next nine months his disease progressed despite prednisolone and methotrexate. He developed worsening cytopenias (Hb86/L, plts105x109/L, MCV117fL), bilateral sclerouveitis, inflammatory joint pains, vasculitic rash, chest pain and dyspnoea on exertion. CTPA and HRCT showed no significant abnormalities. VEXAS syndrome was diagnosed after BMB testing identified the UBA1 mutation c.122T&amp;gt;c, p.Met41Thr. His treatment now encompasses prednisolone and Tocilizumab. His cytopenias are transfusion dependent, he has been under review to consider BMT although is currently stable clinically. Conclusion VEXAS syndrome should be considered in men over 50 with treatment-refractory giant cell arteritis, RP, polyarteritis nodosa and Sweet’s syndrome. VEXAS has a significant mortality and developing effective treatments is a priority. Given there is an available confirmatory test early recognition and subsequent testing for the UBA1 mutation will help physicians to identify appropriate treatment options and avoid unnecessary investigations. Disclosure S. Sajawal: None. M. Green: None. S. Savic: Consultancies; Novartis, SOBI, TAKEDA. Member of speakers’ bureau; Novartis, SOBI. Grants/research support; SOBI.

Assessment of autonomic symptoms may assist with earlyidentification of mild cognitive impairment with Lewybodies.

ObjectivesAutonomic symptoms are a common feature of the synucleinopathies, and may be a distinguishing feature of prodromal Lewy body disease. We aimed to assess whether the cognitive prodrome of dementia with Lewy bodies, mild cognitive impairment (MCI) with Lewy bodies (MCI‐LB), would have more severe reported autonomic symptoms than cognitively healthy older adults, with MCI due to Alzheimer's disease (MCI‐AD) also included for comparison. We also aimed to assess the utility of an autonomic symptom scale in differentiating MCI‐LB from MCI‐AD.MethodsNinety‐three individuals with MCI and 33 healthy controls were assessed with the Composite Autonomic Symptom Score 31‐item scale (COMPASS). Mild cognitive impairment patients also underwent detailed clinical assessment and differential classification of MCI‐AD or MCI‐LB according to current consensus criteria. Differences in overall COMPASS score and individual symptom sub‐scales were assessed, controlling for age.ResultsAge‐adjusted severity of overall autonomic symptomatology was greater in MCI‐LB (Ratio = 2.01, 95% CI: 1.37–2.96), with higher orthostatic intolerance and urinary symptom severity than controls, and greater risk of gastrointestinal and secretomotor symptoms. MCI‐AD did not have significantly higher autonomic symptom severity than controls overall. A cut‐off of 4/5 on the COMPASS was sensitive to MCI‐LB (92%) but not specific to this (42% specificity vs. MCI‐AD and 52% vs. healthy controls).ConclusionsMild cognitive impairment with Lewy bodies had greater autonomic symptom severity than normal ageing and MCI‐AD, but such autonomic symptoms are not a specific finding. The COMPASS‐31 may therefore have value as a sensitive screening test for early‐stage Lewy body disease.

Emerging Marketing Research on Healthcare and Medical Decision Making: Toward a Consumer-Centric and Pluralistic Methodological Perspective

Emerging Marketing Research on Healthcare and Medical Decision Making: Toward a Consumer-Centric and Pluralistic Methodological Perspective