Nailfold capillaroscopy alterations in androgenetic alopecia: A case–control study

Background: Androgenetic alopecia is considered to be an independent predictor of mortality from diabetes mellitus and heart disease. However, whether androgenetic alopecia causes changes in microcirculation is unknown. Objective: The objective of the study was to investigate whether alterations in nailfold capillaries occur in androgenetic alopecia patients. Methods: The nailfold capillaroscopy images of androgenetic alopecia patients and matched controls were collected and analyzed. Results: The frequencies of avascular areas, dilated, bushy and bizarre capillaries and capillary disorganization, nailfold capillaroscopy scores of 2 or scores both 2 and 3 were significantly higher in the androgenetic alopecia group than in the healthy controls (9.0% vs. 0%, 57.7% vs. 19.2%, 3.8% vs. 0%, 2.8% vs. 1.3%, 3.8% vs. 0%, 38.5% vs. 12.8% and 39.7% vs. 12.8%, respectively). Limitations: The results of this study may be biased on account of the limited sample size or the presence of an undiagnosed disease in participants which could alter the nailfold capillaries. Conclusion: Bushy, bizarre and dilated capillaries, capillary disorganization, avascular areas and nailfold capillaroscopy scores of 2 or 2 and 3 were more common in androgenetic alopecia patients than in healthy controls. These findings indicate that abnormalities in microcirculation may be involved in androgenetic alopecia.

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases, and has played a significant role in rare disease gene discovery. While this technology resolves some cases, others are given a list of possibly damaging genetic variants necessitating functional studies. Productive collaborations between scientists, clinicians, and patients can help resolve such medical mysteries, and provide insights into in vivo function of human genes. Furthermore, facilitating interactions between scientists and research funders, including non-profit organizations or commercial entities, can dramatically reduce the time to translate discoveries from bench to bedside. Several systems designed to connect clinicians and researchers with a shared gene of interest have been successful. However, these platforms exclude some stakeholders based on their role or geography. Here we describe ModelMatcher, a global online matchmaking tool designed to facilitate cross-disciplinary collaborations, especially between scientists and other stakeholders of rare and undiagnosed disease research. ModelMatcher is integrated into the Rare Diseases Models and Mechanisms Network and Matchmaker Exchange, allowing users to identify potential collaborators in other registries. This living database decreases the time from when a scientist or clinician is making discoveries regarding their genes of interest, to when they identify collaborators and sponsors to facilitate translational and therapeutic research.

Evaluation of Medical Care for Diabetic and Hypertensive Patients in Primary Care in Mexico: Observational Retrospective Study

Introduction. The present study evaluated the quality of medical care for patients diagnosed with diabetes mellitus (DM), hypertension (HBP), and both pathologies (DM+HBP) within a public health system in Mexico. Methods. 45,498 patients were included from 2012 to 2015. All information was taken from the electronic medical record database. Each patient record was compared against the standard to test the quality of medical care. Results. Glycemia with hypertension goals reached 29.6% in DM+HBP, 48.6% in DM, and 53.2% in HBP. The goals of serum lipids were reached by 3% in DM+HBP, 5% in DM, and 0.2% in HBP. Glycemia, hypertension, and LDL cholesterol reached 0.04%. 15% of patients had an undiagnosed disease. Clinical follow-up examinations reached 20% for foot examination and clinical eye examination. Specialty referrals reached 1% in angiology or cardiology. Conclusion. Goals for glycemic and hypertension reached 50% in the overall population, while serum lipids, clinical follow-up examinations, and referral to a specialist were deficient. Patients who had both diseases had more consultations, better control for hypertension and lipids, but inferior glycemic control. Overall, quality care for DM and/or HBP has not been met according to the standards.

The principles and pitfalls of screening in primary care

Screening is the investigation of undiagnosed disease in asymptomatic patients. Asymptomatic disease tends to occur before symptomatic disease, meaning screening should identify disease earlier in its course. Early disease is usually easier to treat, with less morbidity and mortality. Therefore, in theory, screening should reduce morbidity and mortality from disease. The UK has a national population screening programme for specific diseases. Also, GPs regularly perform health screening such as the NHS health check. This must be evidence-based, so that the benefits outweigh harms, and the process must be economical. Therefore, it is important to understand the principles and pitfalls of screening.

POS0980 ANALYSIS OF PRIMARY CARE CONSULTATION PATTERNS TO AID DIAGNOSIS OF AXIAL SPONDYLOARTHRITIS – AN EXPLORATORY CASE SERIES

Background:Patients with Axial Spondyloarthritis (AxSpA) often suffer a significant delay to diagnosis. This is associated with poorer outcomes in quality of life, functional capabilities and work productivity [1]. These patients are frequent consulters to primary care in the years preceding rheumatology referral [2]. We hypothesise that analysis of primary care consultation patterns may identify as-yet undiagnosed disease, and suggest that implementing an automated diagnostic algorithm may support early action in primary care.Objectives:To undertake a preliminary exploration of primary care consultation patterns in patients with a delayed diagnosis of AxSpA and identify themes for further research.Methods:The study was run in Salford, UK, where unique linkage exists across electronic health records (EHR) from primary and secondary care. A dataset of patients with AxSpA was obtained from 2018-2020 hospital physiotherapy clinic records. Ten patients with a time to diagnosis ≥ 5 years were randomly selected for this exploratory analysis. Diagnostic delay was calculated based on rheumatology clinic letter documentation. Age, sex, and HLA-B27 status were recorded. All “Problem” codes from the primary care EHR up to the point of diagnosis were manually reviewed.Results:Age at diagnosis was 32-49 years with seven males and three females. Seven were HLA-B27 positive. The average delay to diagnosis was 15.8 years (range 5-30).On average, patients had 15 primary care consultations (range 5-24) between first coded AxSpA-related symptom and rheumatology referral. Around half of these codes were potentially AxSpA-related (for example, see Figure 1).Six patients had a coded history of back pain. Two patients presented with other axial symptoms, including: rib pain, MSK chest pain and sciatica.Five patients presented with peripheral joint symptoms, including: ankle pain, shoulder pain, knee problem, pain in arm, medial epicondylitis elbow, hip pain and groin pain. Of these, four had multiple presentations and three had a previous visit with axial pain.Two patients had uveitis preceding axial symptoms. One patient had peripheral joint symptoms (hip pain) preceding uveitis.Inconsistent codes were used for the same problem presenting at different times in nine cases, including: back pain, backache, low back pain, lower back pain.Other relevant codes were used in seven cases, including: stiffness, arthritis, saw physiotherapist and referred to pain clinic.Figure 1 illustrates the consultation pattern for a male patient who first presented to primary care with back pain at the age of 35. Despite a relatively typical presentation, his diagnosis was made incidentally 10 years later after an ESR was checked for unrelated reasons. He was significantly disabled in function at the point of being referred to rheumatology.Conclusion:Our preliminary analysis suggests that patients with a delayed diagnosis of AxSpA have repeated primary care visits with potentially recognisable symptoms of their disease. These findings support the feasibility of future automated detection, with areas of focus including recognition of non-back pain axial symptoms, extra-articular manifestations, and peripheral joint symptoms.Whilst half of presentations were not directly AxSpA-related, modern machine learning techniques have the ability to explore whether the pattern or frequency of these consultations are relevant to identifying undiagnosed disease. Such methods can also highlight patterns obscured by extensive data sets and inconsistent coding, with opportunity for implementation back into primary care.References:[1]Redeker I et al. Determinants of diagnostic delay in axial spondyloarthritis: an analysis based on linked claims and patient-reported survey data. Rheumatology (Oxford) 2019;58:1634–8.[2]Yi E et al. Clinical, Economic, and Humanistic Burden Associated With Delayed Diagnosis of Axial Spondyloarthritis: A Systematic Review. Rheumatol Ther. 2020;7(1):65–87Disclosure of Interests:None declared.

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

Every year individuals experience symptoms that remain undiagnosed by healthcare providers. In the United States, these rare diseases are defined as a condition that affects fewer than 200,000 individuals. However, there are an estimated 7000 rare diseases, and there are an estimated 25–30 million Americans in total (7.6–9.2% of the population as of 2018) affected by such disorders. The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Mass spectrometry-based metabolomics and lipidomics analyses could advance the collective understanding of individual symptoms and advance diagnoses for individuals with heretofore undiagnosed disease. Here, we report the mass spectrometry-based metabolomics and lipidomics analyses of blood plasma, urine, and cerebrospinal fluid from 148 patients within the UDN and their families, as well as from a reference population of over 100 individuals with no known metabolic diseases. The raw and processed data are available to the research community so that they might be useful in the diagnoses of current or future patients suffering from undiagnosed disorders.

Incidental cardiac uptake in bone scintigraphy: increased importance and association with cardiac amyloidosis

Extraosseous radiotracer uptake during bone scintigraphy must be carefully assessed and it offers the potential to detect previously undiagnosed disease processes. A range of neoplastic, metabolic, traumatic, ischaemic and inflammatory disorders can cause soft tissue accumulation of bone avid radiopharmaceuticals. Accordingly, cardiac uptake in bone scintigraphy has a broad differential diagnosis and is commonly attributed to ischaemia/infarction related to coronary artery disease. However, there has been renewed focus on incidental cardiac uptake in recent years in light of significant developments in the diagnosis and management of cardiac amyloidosis.