Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.

Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). We describe a new homozygous mutation of Prok-R2 gene in a man displaying KS with an apparent reversal of hypogonadism. The proband, offspring of consanguineous parents, presented at age 19 years with absent puberty, no sense of smell, low testosterone and gonadotrophin levels. Magnetic resonance imaging showed olfactory bulb absence. The patient achieved virilization and spermatogenesis with gonadotrophin administration. Two years after discontinuing hormonal therapy, he maintained moderate oligozoospermia and normal testosterone levels. Prok2 and Prok- R2 gene sequence analyses were performed. The proband had a homozygous mutation in Prok-R2 exon 2 that harbours the c.T820>A base substitution, causing the introduction of an aspartic acid in place of valine at position 274 (Val274Asp). His mother had the same mutation in heterozygous state. This report describes a novel homozygous mutation of Prok-R2 gene in a man with variant KS, underlying the role of Prok-R2 gene in the olfactory and reproductive system development in humans. Present findings indicate that markedly delayed activation of gonadotrophin secretion may occur in some KS cases with definite gene defects, and that oligozoospermia might result from a variant form of reversible hypogonadotrophic hypogonadism

Efficacy and Effectiveness of Extracorporeal Shockwave Therapy in Patients with Myofascial Pain or Fibromyalgia: A Scoping Review

Myofascial pain syndrome (MPS) and fibromyalgia (FM) are underestimated painful musculoskeletal conditions that could impact function and quality of life. A consensus about the most appropriate therapeutic approach is still not reached. Considering the long course of the diseases, prolonged assumption of drugs, such as NSAIDs and pain killers, could increase the risk of adverse events, often leading affected patients and physicians to prefer non-pharmacological approaches. Among these, radial and focused extracorporeal shock waves therapies (ESWT) are widely used in the management of painful musculoskeletal conditions, despite the fact that the mechanisms of action in the context of pain modulation should be further clarified. We performed a scoping review on PubMed using Mesh terms for analyzing the current evidence about the efficacy and effectiveness of ESWT for patients with MPS or FM. We included 19 clinical studies (randomized controlled trials and observational studies); 12 used radial ESWT, and 7 used focused ESWT for MPS. Qualitative analysis suggests a beneficial role of ESWT for improving clinical and functional outcomes in people with MPS, whereas no evidence was found for FM. Considering this research gap, we finally suggested a therapeutic protocol for this latter condition according to the most recent diagnostic criteria

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: A case report and a brief review of literature

open7noThis work was supported by EHA Junior Research Grant to Immacolata Andolfo (3978026), and by Bando Star Linea 1 - JUNIOR PRINCIPAL INVESTIGATOR GRANTS - COINOR, Università degli Studi di Napoli Federico II to Roberta Russo.Background: Dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis is a rare, autosomal dominant hemolytic anemia characterized by macrocytosis, presence of stomatocytes and dehydration of red blood cells (RBCs). The dehydration is caused by a defect in cellular cation content. The most frequent expression of the pathology is hemolytic well-compensated anemia with high reticulocyte count, a tendency to macrocytosis, increased mean corpuscular hemoglobin concentration (MCHC) and mild jaundice. We here describe a new mutation of PIEZO1 gene, the most frequent mutated gene in DHS, in a family affected by hereditary hemolytic anemia. Case presentation: We describe the case of a 12-years-old girl with well-compensated chronic hemolysis, increased MCHC and a father who had the same hematological characteristics. After excluding secondary causes of chronic hemolysis and enzymatic defects of the RBCs, microscopic observation of the peripheral blood smear, tests of RBC lysis, ektacytometry, SDS-PAGE and in last instance genetic analysis has been performed. This complex diagnostic workup identified a new variant in the PIEZO1 gene, never described in literature, causative of DHS. This pathogenetic variant was also detected in the father. Conclusions: This case report highlights the importance of a correct and exhaustive diagnostic-workup in patients with clinical suspicious for hemolytic anemia in order to make a differential diagnosis. This is relevant for the management of these patients because splenectomy is contraindicated in DHS due to high thrombotic risk.openZama D.; Giulietti G.; Muratore E.; Andolfo I.; Russo R.; Iolascon A.; Pession A.Zama D.; Giulietti G.; Muratore E.; Andolfo I.; Russo R.; Iolascon A.; Pession A

Post-acute covid-19 rehabilitation network proposal: From intensive to extensive and home-based it supported services

Management of COVID-19 post-acute syndrome is an emerging health issue in rehabilitation. This article aims to present a proposal, based on the principles of clinical governance, health management and information technology (IT), and to respond to the need for a structured organization model for post-acute COVID-19 rehabilitation. The authors present a regional-based model of a network of clinicians and healthcare managers using a dedicated IT platform to achieve both effectiveness and efficiency objectives, to ensure coordination of the available resources and the most appropriate rehabilitative treatment for patients. The proposed post-acute COVID-19 rehabilitation network has been designed according to the model of a clinical management project within the Italian national healthcare system, and its context is an easily adjustable model for the European healthcare systems. The authors base the project on current laws and scientific guidelines in rehabilitation in Italy and in Europe and use the SWOT analysis technique to assess the proposal feasibility. The primary aims of the project are: (1) standardizing the minimum assessment tools of post-COVID-19 patients with disabilities; (2) ensuring an individual rehabilitation project for each patient with international classification of functioning, disability and health (ICF) coding and (3) reporting the activity performance with appropriate indicators. The secondary aims are: (1) developing educational programs for patients and care givers also aimed at acquiring better empowerment and positive behavior; (2) creating a regional database for data collection and (3) improving IT, and specifically tele-rehabilitation, as a suitable approach during the COVID-19 emergency and also in the future. Expected results are: continuum of care; effectiveness, efficacy and appropriateness in the delivery of rehabilitation treatments through a standardized minimum assessment and the wording of the individual rehabilitation project and a precise reporting of performance indicators to measure the effectiveness of clinical activities and the satisfaction of patients and caregivers. The assessment of results will be analyzed at three and six months to implement corrective actions according to the concept of continuous improvement of the Deming cycle. The IT remote approach allows the patient to meet the needs of proximity of care and empowerment, and, at the same time, to contain the spread of infection. This project could have a significant healthcare impact ensuring a more efficient and effective management of the demand of rehabilitation post-acute COVID-19, expanding the professional skills of the rehabilitation team members, improving both clinical and process data, in addition to optimal allocation of available economic resources

PMS66 Determinants of Non-Persistence to Antiosteoporotic Drugs by Using Administrative Database

Osteoporosis treatment involves several therapeutic tools, including long-term drug therapy. Subjects with chronic disorders are more likely to be non-adherent and/or non-persistent to treatment than those with other diseases. Adherence is the extent to which patients take medication as prescribed by their physicians, whereas persistence is the time from treatment initiation to discontinuation. Lack of persistence is common among subjects using oral anti-osteoporotic drugs, and leads to increased risk of fragility fracture

Development of site-specific biomechanical indices for estimating injury risk in cycling

In this paper we present novel biomechanical indices for site-specific assessment of injury risk in cycling. The indices are built from a multifactorial analysis based on the kinematics and kinetics of the cyclist from the biomechanical side, and muscle excitations and muscle synergies from the neurophysiological side. The indices are specifics for three body regions (back, knee, ankle) which are strongly affected by overuse injuries in cycling. We use these indices for injury risks analysis of a recreational cyclist, who offered to participate in the experiments. The preliminary results are promising towards the use of such indices for planning and/or evaluating training schedule with the final goal of reducing non-traumatic injuries in cycling

Genetic counseling during COVID-19 pandemic: Tuscany experience

Background: COVID-19 outbreak prompted health centres to reorganize their clinical and surgical activity. In this paper, we show how medical genetics department's activity, in our tertiary pediatric hospital, has changed due to pandemic. Methods: We stratified all our scheduled visits, from March 9th through April 30th, and assessed case-by-case which genetic consultations should be maintained as face-to-face visit, or postponed/switched to telemedicine. Results: Out of 288 scheduled appointments, 60 were prenatal consultations and 228 were postnatal visits. We performed most of prenatal consultations as face-to-face visits, as women would have been present in the hospital to perform other procedures in addition to our consult. As for postnatal care, we suspended all outpatient first visits and opted for telemedicine for selected follow-up consultations: interestingly, 75% of our patients’ parents revealed that they would have cancelled the appointment themselves for the fear to contract an infection. Conclusions: Spread of COVID-19 in Italy forced us to change our working habits. Given the necessity to optimize healthcare resources and minimize the risk of in-hospital infections, we experienced the benefits of telegenetics. Current pandemic made us familiar with telemedicine, laying the foundations for its application to deal with the increasing number of requests in clinical genetics

Role of the Endocannabinoid/Endovanilloid System in the Modulation of Osteoclast Activity in Paget’s Disease of Bone

The role of the endocannabinoid/endovanilloid (EC/EV) system in bone metabolism has recently received attention. Current literature evidences the modulation of osteoclasts and osteoblasts through the activation or inhibition of cannabinoid receptors in various pathological conditions with secondary involvement of bone tissue. However, this role is still unclear in primary bone diseases. Paget’s disease of the bone (PDB) could be considered a disease model for analyzing the role of the EC/EV system on osteoclasts (OCs), speculating the potential use of specific agents targeting this system for managing metabolic bone disorders. The aim of the study is to analyze OCs expression of EC/EV system in patients with PDB and to compare OCs activity between this population and healthy people. Finally, we investigate whether specific agents targeting EC/EV systems are able to modulate OCs activity in this metabolic bone disorder. We found a significant increase in cannabinoid receptor type 2 (CB2) protein expression in patients with PDB, compared to healthy controls. Moreover, we found a significant reduction in multi-nucleated tartrate-resistant acid phosphatase (TRAP)–positive OCs and resorption areas after treatment with JWH-133. CB2 could be a molecular target for reducing the activity of OCs in PDB, opening new therapeutic scenarios for the management of this condition