Effect of an Educational Nursing Intervention on the Mental Adjustment of Patients with Chronic Arterial Hypertension: An Interventional Study

The objective of this analytical and interventional prospective quantitative study was to assess the effect of an educational intervention performed by nurses for mental adjustment to chronic disease in patients with hypertension. A convenience sample was studied, composed of 329 participants with chronic hypertension, followed in a primary healthcare unit in the Central Region of Portugal. Data collection was carried out by applying the Mental Adjustment to Disease Scale (MADS) before and 1 month after the educational nursing intervention between September 2017 and February 2018. Prior to the application of the educational intervention, 43.5% of the participants were classified as “unadjusted” in at least one of the subscales of MADS. After the educational intervention, 21.3% of the participants classified as “unadjusted” became “adjusted” in all MADS subscales. The success rate of the intervention varied from 26.9% (in the fatalism subscale) to 44.6% (for the anxious concern subscale). Participants were more likely to be mentally “unadjusted” to hypertension if they lived with other family members, had an active professional situation before the diagnosis of hypertension, still had an active professional situation now, were under 65 years old, had a shorter time to diagnosis (1–2 years), and measured blood pressure less regularly. The educational intervention performed by nurses is relevant for the mental adjustment of hypertensive patients, contributing to increased knowledge, as well as improvement in preventive and self-care practices, facilitating the experience of the health/disease transition process.

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient’s critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients’ clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility.

Changes in ankylosing spondylitis incidence, prevalence and time to diagnosis over two decades

ObjectivesTo assess changes in ankylosing spondylitis (AS) incidence, prevalence and time to diagnosis, between 1998 and 2017.MethodsUsing UK GP data from the Clinical Practice Research Datalink, we identified patients diagnosed with AS between 1998 and 2017. We estimated the annual AS incidence, prevalence and length of time from first recorded symptom of back pain to rheumatology referral and diagnosis.ResultsWe identified 12 333 patients with AS. The incidence declined from 0.72 (±0.14) per 10 000 patient-years in 1998 to 0.39 (±0.06) in 2007, with this decline significant only in men, then incidence rose to 0.57 (±0.11) in 2017. By contrast, prevalence increased between 1998 and 2017 (from 0.13%±0.006 to 0.18%±0.006), rising steeply among women (from 0.06%±0.05 to 0.10%±0.06) and patients aged ≥60 (from 0.14%±0.01 to 0.26%±0.01). The overall median time from first symptom to rheumatology referral was 4.87 years (IQR=1.42–10.23). The median time from first symptom to diagnosis rose between 1998 and 2017 (from 3.62 years (IQR=1.14–7.07) to 8.31 (IQR=3.77–15.89)) and was longer in women (6.71 (IQR=2.30–12.36)) than men (5.65 (IQR=1.66–11.20)).ConclusionAS incidence declined significantly between 1998 and 2007, with an increase between 2007 and 2017 that may be explained by an improvement in the recognition of AS or confidence in diagnosing AS over time, stemming from increased awareness of inflammatory back pain and the importance of early treatment. The rising AS prevalence may indicate improved patient survival. The persisting delay in rheumatology referral and diagnosis remains of concern, particularly in women.

Remote diagnosis of surgical-site infection using a mobile digital intervention: a randomised controlled trial in emergency surgery patients

Surgical site infections (SSI) cause substantial morbidity and pose a burden to acute healthcare services after surgery. We aimed to investigate whether a smartphone-delivered wound assessment tool can expedite diagnosis and treatment of SSI after emergency abdominal surgery. This single-blinded randomised control trial (NCT02704897) enroled adult emergency abdominal surgery patients in two tertiary care hospitals. Patients were randomised (1:1) to routine postoperative care or additional access to a smartphone-delivered wound assessment tool for 30-days postoperatively. Patient-reported SSI symptoms and wound photographs were requested on postoperative days 3, 7, and 15. The primary outcome was time-to-diagnosis of SSI (Centers for Disease Control definition). 492 patients were randomised (smartphone intervention: 223; routine care: 269). There was no significant difference in the 30-day SSI rate between trial arms: 21 (9.4%) in smartphone vs 20 (7.4%, p = 0.513) in routine care. Among the smartphone group, 32.3% (n = 72) did not utilise the tool. There was no significant difference in time-to-diagnosis of SSI for patients receiving the intervention (−2.5 days, 95% CI: −6.6−1.6, p = 0.225). However, patients in the smartphone group had 3.7-times higher odds of diagnosis within 7 postoperative days (95% CI: 1.02−13.51, p = 0.043). The smartphone group had significantly reduced community care attendance (OR: 0.57, 95% CI: 0.34−0.94, p = 0.030), similar hospital attendance (OR: 0.76, 95% CI: 0.28−1.96, p = 0.577), and significantly better experiences in accessing care (OR: 2.02, 95% CI: 1.17−3.53, p = 0.013). Smartphone-delivered wound follow-up is feasible following emergency abdominal surgery. This can facilitate triage to the appropriate level of assessment required, allowing earlier postoperative diagnosis of SSI.

An in Depth Analysis of Factors Contributing to Diagnostic Delay in Myeloma: A Retrospective UK Study of Patients Journey from Primary Care to Specialist Secondary Care

Introduction Patients with Multiple Myeloma (MM) often have a significant delay between onset of symptoms and diagnosis of disease. As a result, a significant number of patients present via emergency routes with severe co-morbidities which affect survival rates. Timely diagnosis relies on the early recognition of symptoms and blood test results which may indicate disease. Methods We examined the medical records of 142 newly diagnosed MM patients (121 intact immunoglobulin and 21 light chains) across 2 UK Hospitals. Patients included had not previously been diagnosed with a plasma cell dyscrasia, including Monoclonal Gammopathy of Undetermined Significance (MGUS). Clinical symptoms and blood test results were examined from the time of initial presentation to the healthcare system with symptoms indicative of MM, to the point of diagnosis in order to highlight patterns of symptoms and blood tests results which may give an early indication of disease. Blood tests results recorded included globulin, calcium, creatinine, erythroid sedimentation rate and haemoglobin. Time to diagnosis from presentation with symptoms indicative of MM was also measured as well as the patient pathway from the point of presentation to the point of diagnosis. Results The median time to diagnosis from initial presentation was 77 days (range 0 - 12,986). Initial presentation was most commonly via primary care (58.1%). Urgent secondary care presentation was documented in 28.5% which included acute medical unit (15.6%), the emergency department (7.1%), and other secondary care specialities (5.7%) respectively. Multiple GP visits were common prior to haematology referral with a median of 3 visits (range 1 - 40). Initial presenting symptoms varied, but of those with data recorded (n=107) back/bone pain was the most common (58.2%) followed by anaemia (18.7%), fracture (7.5%), recurrent infection (7.5%) and renal impairment (3.7%) respectively. Interestingly, analysis of evaluable blood test results revealed a raised globulin was most often evident prior to diagnosis with 58% of patients recording an abnormal globulin a median of 140 days (range 3 - 4297) prior to diagnosis of disease. Conclusions Multiple GP visits prior to establishing a diagnosis of myeloma is very common. Inclusion of abnormal globulin to reflex electrophoresis request and serum free light chain assay may serve as a useful trigger for investigation when interpreted alongside presenting symptoms and other blood test results. Increased awareness of myeloma warning signs in primary care may reduce diagnostic delay and avoid presentation with severe co-morbidities in emergency settings. Disclosures No relevant conflicts of interest to declare.

692. Coccidioides sp. Infective Endocarditis: A Review of the Literature

Background Despite the endemic nature of Coccidioides sp. to the American Southwest, the incidence Coccidioides sp. infective endocarditis (CIE) is rare. Following successful treatment of a patient with CIE at our institution, we reviewed the literature to identify trends in disease presentation, patient characteristics, and outcomes. Methods We reviewed all cases of CIE reported since 1938. Details including patient demographics, underlying immunodeficiency, time to diagnosis, treatment, and outcome were collected for analysis of diagnostic challenges and survival. Results Including ours, we identified 11 published cases of CIE. The majority (7) occurred in men. 5 patients were of either African American or Hispanic descent. Of the 10 patients with reported ages, the median age was 35.5 years (range 3 weeks – 61 years). 5 patients had a previous diagnosis of coccidioidomycosis and only 3 had an immunocompromising condition. These comprised pregnancy, heart transplant, and juvenile inflammatory arthritis. Three cases had multi-valvular involvement, but the majority affected the mitral (5) and the aortic (4) valves. Only 2 of the 11 cases involved a prosthetic valve. Of the 8 cases with reported blood cultures, only 2 were positive. Ten of the 11 cases had extra-cardiac disease. Complement fixation (CF) titers were heterogenous with a median of 1:32 and a range of 1:1 to 1:2048. There was no obvious correlation between a patient’s CF titer and their survival. Average time to diagnosis was 3.5 months (range 2.5 – 36 months). Diagnosis was made post-mortem in 4 of the 11 cases. 6 patients (54%) did not survive. Notably, 2 of the fatal cases preceded the discovery of amphotericin B (1969) and 4 occurred prior to the discovery of fluconazole (1990). Of the five patients that survived, four required surgical intervention in addition to azole therapy. Conclusion CIE is a diagnostic and therapeutic challenge. The diagnosis itself is rare, culture incubation times are long, and the symptoms are often non-specific thus delaying definitive therapy. The introduction of azole therapy appears to have had significant impact on rates of survival. Despite this, successful management of CIE still requires concurrent surgical intervention with aggressive, indefinite anti-fungal therapy. Disclosures All Authors: No reported disclosures

An Objective Approach to Identify Priority Rare Diseases for the Development of Solutions Reducing the Diagnostic Delay Based on French Data

A timely diagnosis is a critical step to ensure a proper access to expert clinical management for patients. However, diagnosing rare diseases (RD) is a major challenge, as they are not only numerous but also extremely diverse in their expression and cause. This generates a long lag time between first symptoms and diagnosis, unanimously thought to be unacceptably long in many cases, and amenable to improvement. Digital technologies offer new opportunities for improving diagnosis and care in a sector with urgent needs. However, developing and testing digital solutions would only be possible for a limited number of rare diseases (RD). The approach presented here aims at proposing an objective way of defining a subset of “priority” RD to focus on for the development and test of new solutions to reduce the time to diagnosis. An approach which is relevant not only when developing and testing new digital solutions but also organizational solutions in the field of RDs. The priority RDs presented herein have been highlighted using two objective criteria: the existence of a well-defined and established standard of care management, defined as the availability of a medicinal product specifically targeting the disease; and / or the existence of authoritative clinical guidelines. Our approach, based on French data, led to the establishment of a list of 251 RD for which a delayed diagnosis would be especially detrimental for the patient. This work demonstrates the feasibility of identifying objectively a subset of RD at urgent needs for the development of solutions to reduce the delay to diagnosis, if choices have to be made, based on publicly and well-established available data. The proposed list needs to be updated and adapted to the local situation, and validated by experts to establish if the delay to diagnosis can be reduced.