Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?

Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis. Case Report: We report here the case of a young woman with hepatosplenomegaly, leukopenia, and thrombocytopenia. Based on bone marrow (BM) findings and on liver biopsy showing extramedullary hematopoiesis, an initial diagnosis of PMF was formulated. The patient refused stem cell transplantation from an HLA-identical sibling. Low-dose melphalan was given, without any improvement. Two years later, a BM evaluation showed Gaucher cells. Low glucocerebrosidase and high chitotriosidase levels were indicative for GD. Molecular analysis revealed N370S/complex I mutations. Enzyme replacement therapy with imiglucerase was commenced, resulting in clinical and hematological improvements. Due to an unexpected and persistent organomegaly, PMF combined with GD were suspected. JAK2V617F, JAK2 exon 12, MPL, calreticulin, and exon 9 mutations were negative, and BM examination showed no marrow fibrosis. PMF was excluded. Twenty years after starting treatment, the peripheral cell count and liver size were normal, whereas splenomegaly persisted. Conclusion: In order to avoid a misdiagnosis, a diagnostic algorithm for patients with hepatosplenomegaly combined with cytopenia is suggested

OP0082-PARE THE EFFECT COVID-19 HAS ON THE MENTAL HEALTH OF PEOPLE LIVING WITH RHEUMATIC DISEASES. FROM DATA TO INTERVENTIONS.

Background:Covid-19 has had an important impact on the mental health conditions of over 5 million Italians suffering from one of the over 150 rheumatic diseases. In order to understand the psychological impact of the Covid-19 emergency and the restrictions imposed to counter it, the Italian National Association of People with Rheumatic and Rare Diseases – APMARR APS launched the research "Living with a rheumatic pathology".Objectives:Gather data directly from Italian patients about the impact of the COVID-19 and consequent restrictions on their mental health and feelings; evaluate the most effective intervention to be implemented to face the pandemic by Patients organization.Methods:A qualitative-quantitative survey was carried out through a questionnaire administered throughout the national territory to a sample of N = 1,001 people. The people invited to complete the questionnaire were women (55,9%) and men (44,1%), aged 18-85 years (age 18-41=26,7%; age 42-65=64%; age >65=9,3%) with at least one rheumatic pathology. The questionnaire was made up of 39 questions, of which 29 were closed and 10 were open. For the administration of the questionnaires, the CAWI (Computer Aided Web Interview) methodology of on-line survey was used. The 1,001 interviews were carried out from 7 to 14 August 2020.Results:More than 4 out of 10 people (total sample 44.2%; male 60%, female 35,7%; age 18-41=39,1%; age 42-65=45,9%; age >65 = 50%) declared that the emergency period has somehow caused a worsening of their health condition. People declared that the deterioration of their health is due to the emergency period for the following reasons: 1) Psychological: such as stress and anxiety: "Too much stress and anxiety made the symptoms worse."; "The stress of the quarantine affected my problem"; "Insomnia. Nervousness. General ailments. Depression. Strong stress" 2) Inability to perform physiotherapy and motor activities due to the lockdown 3) Postponement of examinations, visits and checks 4) remote working, in some cases described as harmful for people's mental and physical health: "Due to Covid19 I had to do remote working and I worked even 12 hours a day including holidays to the detriment of my family life".Furthermore, from January 31, 2020 a significant increase emerged in communication problems with rheumatology specialist compared to the period before the emergency due to Covid-19. The sharp increase may be due to the situation of severe psychological stress to which also the doctors were subjected in the emergency phase: people could not find the comfort of being empathically listened to.Conclusion:The research shows that the most frequent symptoms among people with rheumatic diseases were depression and high levels of anxiety due to strong emotional stress. Psychological malaise caused direct effects in worsening the symptoms of rheumatic disease as well as other related effects, for example, insomnia. The forced isolation due to the lockdown has made people lack the social support that is fundamental for the psychological well-being especially for those suffering from some chronic pathology. Starting from the data collected, APMARR promptly activated a completely free psychological support service with 6 professional psychologists, two of them specialized in emergency psychology. The service is accessible online and is still going on for all who are not able to overcome the anxiety and fear related to the pandemic and its evolution. Thousands of accesses to the service have been measured to date.References:S Mingolla1, A Celano1, M Santopietro2[1]NATIONAL ASSOCIATION OF PEOPLE WITH RHEUMATIC AND RARE DISEASES - APMARR APS[2]WeResearch. Ricerche di marketingDisclosure of Interests:None declare

Optimal energy recovery by means of pumps as turbines (PATs) for improved WDS management

Abstract In water networks characterized by a significant variation in ground elevations the necessity of pumping water in some areas is complicated by a conflicting requirement to reduce excess pressures in other areas. This and the increasing cost of electricity has led to the use of Pumps-operating-As-Turbines (PATs) devices that can reduce pressure (and leakage) whilst harvesting energy. This paper presents a methodology for optimal water distribution system (WDS) management, driving the optimization by minimizing the surplus pressure at network nodes and the operational pumping costs and maximizing the income generated through energy recovery. The method is based on a highly parallelized Evolutionary Algorithm, employing an hydraulic solver to evaluate hydraulic constraints. Water demands at network nodes are considered as uncertain variables modelled by using a probabilistic approach in order to take into account unknown future demands. The approach is demonstrated in different case studies. Results obtained highlight that the economic benefits of installing PATs for energy recovery in conjunction with a combined pump-scheduling and pressure management regime is especially related to the input network characteristics. Further analysis of the importance of the probabilistic approach and of the influence of the interval time step adopted for the optimization has been evaluated

Physicians’ Perceptions of Clinical Utility of a Digital Health Tool for Electronic Patient-Reported Outcome Monitoring in Real-Life Hematology Practice. Evidence From the GIMEMA-ALLIANCE Platform

Digital health tools are increasingly being used in cancer care and may include electronic patient-reported outcome (ePRO) monitoring systems. We examined physicians’ perceptions of usability and clinical utility of a digital health tool (GIMEMA-ALLIANCE platform) for ePRO monitoring in the real-life practice of patients with hematologic malignancies. This tool allows for the collection and assessment of ePROs with real-time graphical presentation of results to medical staff. Based on a predefined algorithm, automated alerts are sent to medical staff. Participating hematologists completed an online survey on their experience with the platform. Of the 201 patients invited to participate between December 2020 and June 2021 (cut-off date for current analysis), 180 (90%) agreed to enter the platform and had a median age of 57 years. Twenty-three hematologists with a median age of 42 years and an average of 17 years of experience in clinical practice were surveyed. All hematologists agreed or strongly agreed that the platform was easy to use, and 87%, agreed or strongly agreed that ePROs data were useful to enhance communication with their patients. The majority of physicians (78%) accessed the platform at least once per month to consult the symptom and health status profile of their patients. The frequency of access was independent of physician sex (p=0.393) and years of experience in clinical practice (p=0.404). In conclusion, our preliminary results support the clinical utility, from the perspective of the treating hematologist, of integrating ePROs into the routine cancer care of patients with hematologic malignancies

Heel raises versus prefabricated orthoses in the treatment of posterior heel pain associated with calcaneal apophysitis (Sever's Disease): study protocol for a randomised controlled trial

<p>Abstract</p> <p>Background</p> <p>Posterior Heel pain can present in children of 8 to 14 years, associated with or clinically diagnosed as Sever's disease, or calcaneal apophysitis. Presently, there are no comparative randomised studies evaluating treatment options for posterior heel pain in children with the clinical diagnosis of calcaneal apophysitis or Sever's disease. This study seeks to compare the clinical efficacy of some currently employed treatment options for the relief of disability and pain associated with posterior heel pain in children.</p> <p>Method</p> <p>Design: Factorial 2 × 2 randomised controlled trial with monthly follow-up for 3 months.</p> <p>Participants: Children with clinically diagnosed posterior heel pain possibly associated with calcaneal apophysitis/Sever's disease (n = 124).</p> <p>Interventions: Treatment factor 1 will be two types of shoe orthoses: a heel raise or prefabricated orthoses. Both of these interventions are widely available, mutually exclusive treatment approaches that are relatively low in cost. Treatment factor 2 will be a footwear prescription/replacement intervention involving a shoe with a firm heel counter, dual density EVA midsole and rear foot control. The alternate condition in this factor is no footwear prescription/replacement, with the participant wearing their current footwear.</p> <p>Outcomes: Oxford Foot and Ankle Questionnaire and the Faces pain scale.</p> <p>Discussion</p> <p>This will be a randomised trial to compare the efficacy of various treatment options for posterior heel pain in children that may be associated with calcaneal apophysitis also known as Sever's disease.</p> <p>Trial Registration</p> <p>Trial Number: ACTRN12609000696291</p> <p>Ethics Approval Southern Health: HREC Ref: 09271B</p

Usefulness of bronchoalveolar lavage in suspect COVID-19 repeatedly negative swab test and interstitial lung disease

The diagnosis of coronavirus disease 2019 (COVID-19) relies on nasopharyngeal swab, which shows a 20–30% risk of false negativity [1]. Bronchoalveolar lavage (BAL) is reported to be useful in patients with pulmonary interstitial infiltrates on high-resolution computed tomography (HRCT). We investigated the usefulness of BAL in symptomatic patients with positive HRCT and a repeatedly negative swab test (‘grey zone’)