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

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’)

A systemic perspective for the Sustainable Energy and Climate Action Plan (SECAP)

The voluntary-based initiative Covenant of Mayors (CoM) focused on the active role of local authorities and increased its targets by 2016, through the Sustainable Energy and Climate Action Plans (SECAPs) in terms of GHG reduction from 20% to 40% by 2030. In actual fact, the SECAP, intended as an urban planning tool, has the potential to improve the resilience of the EU Municipalities to climate-change, developing adaptation/mitigation actions and increasing the ‘environmental awareness’ of the involved actors. From a planning point of view, we affirm that the CoM started a new season of urban planning in Europe that covers the planning demand in the domain of implementing sustainable territorial development objectives. It unlocks the current ineffective planning systems and represents a remarkable practice promoting feasible framework projects for public and private investments. This paper proposes a methodological proposal to exploit this spread of SECAPs in the EU, including the systemic strategic planning approach in the process of SECAP design and ensuring an integrated vision of city development over the list of actions per sector required by the Global CoM procedures. Besides the methodological proposal, a review of the major EU energy policies is provided and relevant Best Practices are presented

Systemic Approach for the Integration of Energy and Climate Planning in Urban Management

The voluntary-based initiative Covenant of Mayors (CoM) by 2016, through the Sustainable Energy and Climate Action Plans (SECAPs) has focused on the active role of local authorities and increased its targets in terms of GHG reduction from 20% to 40% by 2030. Considering SECAP as an urban planning tool, it can improve the resilience of the EU Municipalities to climate-change, developing adaptation/mitigation actions and increasing the “environmental awareness” of the involved actors. From a planning perspective, the CoM started a new season of urban planning in Europe covering the planning demand in the domain of implementing sustainable territorial development objectives. However, we may affirm that the SECAP is based on a sectorial approach, and it misses an integrated urban vision that represents a pre-requisite for an effective urban planning practice. Thus, in this research we suggest a methodological proposal to exploit this widespread of SECAPs among EU, including the systemic strategic planning approach in the process of SECAP design and ensuring an integrated vision of city development over the list of actions per sectors required by Global CoM procedures

Monitoring SEAPs: Mismatching in Italian Implementation of Sustainable Energy Planning

European climate policy, since the 1990s, has developed incrementally and supported programs, plans and actions for sustainable, clean and secure energy. The Covenant of Mayors (CoM), a volunteer movement of local administrators established in 2008, set a target of a 20% reduction in CO2 emissions by 2020. The CoM has launched a new season on energy planning in Europe based on Sustainable Energy Action Plans (SEAPs), defining actions for selected intervention sectors. The aim of the work was to evaluate after the 2020 deadline, the state of the implementation of Italian CoM signatories, assessing results achieved in terms of the Municipalities involved (CoM signatories), SEAPs developed and Monitoring Reports submitted. Specifically, the analysis of the Monitoring Reports data represents a relevant step needed in order to formulate some critical appraisals concerning the performance level of CoM adoption at a national scale, in terms of the commitment levels, goals achieved and actions completed or in progress. The paper also remarks the recurring issue of mismatching between Italian SEAPs submitted and their Monitoring Reports. This critical step is not allowed to know the real number of CoM Signatories on track or not with their commitments. Therefore, a realistic framework of Monitoring Reports represents a useful tool for interpreting the targets achieved in terms of CO2 reduction and for improving the current Global Covenant of Mayors for Climate and Energy (GCoM) adoption procedures

A Partnership for the Climate Adaptation: Urban Agenda for the EU

The EU Ministers Responsible for Urban Matters, meeting held in Amsterdam in 2016, established the Pact of Amsterdam: Urban Agenda for the EU. The Pact of Amsterdam defines Climate Adaptation as one of the priority themes to be addressed by the Urban Agenda. The Climate Adaptation Partnership was set up in 2017 and represents a multilevel and cross-sectoral cooperation instrument for the priority theme Climate Adaptation. The Action Plan developed by Urban Agenda for the EU Climate Adaptation Partnership is the result of a participatory process involving key stakeholders from the EU institutions, national governments, regional and local authorities. Climate Adaptation Partnership members are coming from all EU macro-regions, ensuring broad geographic representation including cities representative of different city size. Among them the Potenza Municipality, played a key role of Action Plan of the Climate Adaptation Partnership. This paper investigates the action promoted by the Potenza Municipality as a preliminary work to prepare the New Urban Agenda (2021–2027) for the development of the town according to a climate responsive perspective

Small Municipalities Engaged in Sustainable and Climate Responsive Planning: Evidences from UE-CoM

The Covenant of Mayors (CoM), a volunteer movement of local administrators established in 2008, has supported Municipalities to develop their Sustainable Energy and Climate Action Plans (SECAPs) and become energy and climate proof Municipalities. SECAP intended as an urban planning tool, allowed to EU Municipalities to develop adaptation/mitigation actions, facing the climate-change. Compared to this, the CoM started a new season of urban planning coupling the planning demand in terms of reduction of CO2 emissions and the adaptation/mitigation to climate-change with the implementation of sustainable territorial development objectives. The European Signatories of CoM at May 2021 are 6789, and the 4312 of them (in percentage 63%) are small municipalities (i.e. under 10000 inhabitants). This high percentage of small Municipalities related to total has highlighted how SEAPs have been intended as instruments used to plan and provide funding for ordinary interventions in the urban areas instead of institutional instruments (i.e., urban planning regulations, operational plans and programs established by National policies). Therefore, the paper suggests an overview at European level to exploit the engagement of the small Municipalities, specifying the commitment and the SECAP’s sectors chosen. It represents a useful framework interpreting the general results derived from the CoM official data and improving procedures related to the adaptation/mitigation climate-change in urban areas