Telemonitoring for Cystic fibrosis patients of Bambino Gesù Children's Hospital during COVID-19.

Background: Cystic fibrosis (CF) is the most common autosomal recessive genetic pathology of the Caucasian race and it affects nearly 100,000 people worldwide (many have not been diagnosed) and, in Italy, there are about 6000 patients. In the last few years, telemedicine has proved to be an effective home care tool for patients suffering from chronic pathologies. The advent of the COVID-19 pandemic has caused an increase of communications through mobile devices. Aim: To evaluate the role of telemonitoring during the pandemic phase of Covid-19. Materials and methods: 34 (M 15, F 19) (M 44%, F 56%) Cystic Fi-brosis patients were evaluated; Median age ± SD 30.97±10.59 Median FEV1 2020 74.76; number of trasmission and hospital admissions. Results: It was evident that the absolute number of telemedicine visits increased from 1456 to 1605 in the pandemic year (10% more). Conclusions: Telemedicine became an important tool for home management of patients, in particular about chronic diseases. Telemonitoring, an integral part of telemedicine, underlined its effectiveness in all health emergency phase.

Evaluation of nutritional status through bioimpedance analysis in a group of Cystic Fibrosis patients.

Abstract: Cystic fibrosis (CF) is the most common genetic disease in Caucasian people. Nutritional status represents an important key in the progression of the pulmonary disease in CF. People with better nutritional status, generally, maintain good levels of physical activity. Generally Bioelectrical impedance (BIA) analysis is frequently used as a method of body composition assessment, due to easy of use, safety and low cost of this procedure. The aim of this study was to investigate nutritional parameters in cystic fibrosis patient. We performed a single group cohort study. The study examined change in nutritional values in people with CF who practice sport or not, measured by bio-impedance analysis (BIA). Inclusion criteria were people with CF diagnosis confirmed. Primary outcome was evaluate body composition and the correlation with the rate of physical activity. A total of 32 patients were included in the analysis. The most important data was a correlation between Phangle and Body cellular mass index (BCMI) Pvalue<0.01, expecially in patients who had a good levels of aerobic and anaerobic session-training. Patients who did strong physical activity training had a statistically significant values of correlation with nutritional status. Further study were necessary to find association between exercise capa city and body mass index.

The PRECEDE-PROCEED model as a tool in Public Health screening: a systematic review.

OBJETCTIVE: The aim of this systematic review was to summarize the scientific literature concerning the use of the Precede-Proceed model (PPM) applied to educational programs and health screenings contextsV. STUDY DESIGN: Systematic review. METHODS: The search process was based on a selection of publications listed in Medline and Scopus. The keywords used were "Precede-Proceed" AND ("screening" OR "educational programs"). Studies included in the systematic review were subdivided into those applying the model in a screening context, and those applying it within educational programs. RESULTS: Twenty-seven studies were retrieved, mostly performed in the USA and, generally, the promoting center was the University. In the context of cancer screening, the PPM model was most of all applied to Mammography Screening (5 of 13 studies in cancer screening), and Cervical Cancer Screening (5 of 13). Another three studies within the cancer field investigated Menopause-Inducing Cancer Treatments, Oral cancer prevention, and cancer screening in general. In the remaining studies, the model was applied in various screening areas, particularly chronic and degenerative diseases. There were many different study designs, most of which cross-sectional (8), though several RTCs (8) and focus groups (5) were also found. For the cross-sectional studies the methodological quality varied between 3/10 and 9/10, whilst for the RCTs it ranged from 2/5 to 3/5. CONCLUSIONS: The PPM provides an excellent framework for health intervention programs especially in screening contexts, and could improve the understanding of the relationship between variables such as knowledge and screening. Given the complexity of a behavioral change process, certain important predisposing factors could be measured in future studies, and during health intervention planning.

Fifth Åland Island conference on von Willebrand disease.

The fifth Åland Island meeting on von Willebrand disease (VWD) was held on the Åland Islands, Finland, from 22 to 24 September 2016-90 years after the first case of VWD was diagnosed in a patient from the Åland Islands in 1926. This meeting brought together experts in the field of VWD to share knowledge and expertise on current trends and challenges in VWD. Topics included the storage and release of von Willebrand factor (VWF), epidemiology and diagnostics in VWD, treatment of VWD, angiogenesis and VWF inhibitors.

Disinvestment in healthcare: an overview of HTA agencies and organizations activities at European level.

BACKGROUND: In an era of a growing economic pressure for all health systems, the interest for "disinvestment" in healthcare increased. In this context, evidence based approaches such as Health Technology Assessment (HTA) are needed both to invest and to disinvest in health technologies. In order to investigate the extent of application of HTA in this field, methodological projects/frameworks, case studies, dissemination initiatives on disinvestment released by HTA agencies and organizations located in Europe were searched. METHODS: In July 2015, the websites of HTA agencies and organizations belonging to the European network for HTA (EUnetHTA) and the International Network of Agencies for HTA (INAHTA) were accessed and searched through the use of the term "disinvestment". Retrieved deliverables were considered eligible if they reported methodological projects/frameworks, case studies and dissemination initiatives focused on disinvestment in healthcare. RESULTS: 62 HTA agencies/organizations were accessed and eight methodological projects/frameworks, one case study and one dissemination initiative were found starting from 2007. With respect to methodological projects/frameworks, two were delivered in Austria, one in Italy, two in Spain and three in U.K. As for the case study and the dissemination initiative, both came from U.K. The majority of deliverables were aimed at making an overview of existing disinvestment approaches and at identifying challenges in their introduction. CONCLUSIONS: Today, in a healthcare context characterized by resource scarcity and increasing service demand, "disinvestment" from low-value services and reinvestment in high-value ones is a key strategy that may be supported by HTA. The lack of evaluation of technologies in use, in particular at the end of their lifecycle, may be due to the scant availability of frameworks and guidelines for identification and assessment of obsolete technologies that was shown by our work. Although several projects were carried out in different countries, most remain constrained to the field of research. Disinvestment is a relatively new concept in HTA that could pose challenges also from a methodological point of view. To tackle these challenges, it is necessary to construct experiences at international level with the aim to develop new methodological approaches to produce and grow evidence on disinvestment policies and practices.

How to not detonate the bomb: the case of the Italian National Health Service.

Why is Italy one of the world's highest ranked for ability and quality of healthcare in relationship to the resources invested? The last decade has been characterized by many Italian Regions with Recovery Plans, whose main focus was on short-term issues with a high impact on healthcare costs. Italy is now leaving this phase and at the regional level there will be an increase of new hirings in the healthcare sectors, as stated by the Ministry of Health. There is a large amount of scientific literature that supports the role of factors such as lifestyles, diet and genetics as the base of population health. The success of the Italian National Health Service (INHS) function is rooted in the ability of a system to adapt to evolving situations, but it is also important to ensure a mechanism of positive feedback correction. In the future, INHS will require a new set of reforms, like the redefinition of structures and mechanisms of governance, the implementation of strategic plans that conjugate better clinical and financial issues. In this context, Health Data Entanglement could be an option to improve the effectiveness of the health governance system in order to develop better quality of care. In Public Health several criticisms could detonate the bomb, and above all the decreasing levels of primary prevention in the fight to obesity (promoting the Mediterranean Diet and physical activity), to smoking and alcohol consumption, as well as to infectious diseases (promoting high vaccination rates). Secondary prevention is also key to this function as a practical experience of re-engineering of the public expense, giving much attention to what works in terms of cost effectiveness, and in particular to cancer screening.

Current state of genomic policies in healthcare among EU member states: results of a survey of chief medical officers.

Background: A need for a governance of genomics in healthcare among European Union (EU) countries arose during an international meeting of experts on public health genomics (PHG). We have conducted a survey on existing national genomic policies in healthcare among Chief Medical Officers (CMOs) of the 28 EU member states, plus Norway. Methods: A questionnaire was sent to CMOs after a meeting on the policy implications of PHG held during the Italian presidency of the Council of EU in 2014. The survey was closed in November 2015. Results: CMOs response rate was 65.5% (19/29). Twelve (63.2%) reported that their countries had a policy for genomics in healthcare in place, and 15 (78.9%) reported that public funding existed. Public research facilities for the development of such policies were documented in 13 (68.4%) countries, and 15 (83.3%) had working groups devoted to policy development. National agencies carrying out Health Technology Assessment of genomic-based technologies were present in nine countries (50%). Sixteen (88.9%) countries reported having agencies dealing with ethical issues related to genomic technologies. About 55% of countries disclosed the lack of information campaigns aimed at citizens, and 44.4% reported they had a legal framework for direct-to-consumer genetic tests. Conclusion: Belgium, France, Italy, Spain and UK documented the presence of a policy on genomics in healthcare. While many caveats are necessary because of the methodology, results suggest a need for a co-ordinated effort to foster development and harmonization of dedicated policies across EU to responsibly integrate genomics policies into existing health systems.

Current and emerging approaches for assessing von Willebrand disease in 2016.

von Willebrand disease (VWD) is the most common inherited bleeding disorder and is due to a deficiency and/or abnormality of von Willebrand factor (VWF). VWD is inherited in an autosomal dominant or recessive pattern, but women are apparently more symptomatic. Diagnosis of VWD is still difficult in most countries due to the multiple activities of VWF and the heterogeneity of the disease. VWD is mainly associated with mild mucosal bleeding although gastrointestinal and joint bleeds may occur in severe VWD forms. This review describes the most recent clinical and laboratory procedures for the correct diagnosis of VWD. Assays for the evaluation of the platelet-dependent VWF activity (PD-VWFact) with or without ristocetin as well as VWF collagen binding (VWF:CB) are currently in use. However, other tests such as VWF antigen (VWF:Ag), factor VIII procoagulant ( FVIII: C), ristocetin-induced platelet agglutination (RIPA), multimeric analysis (VWF:MA), VWF propeptide (VWFpp), VWF:FVIII binding assay (VWF:FVIIIB), and the assessment of biological response to desmopressin (DDAVP) are necessary to characterize VWD types. Levels of VWF activities <30 U/dL have been associated with a bleeding phenotype and the presence of mutations in the VWF gene.

State of the art: von Willebrand disease.

The State of the Art in von Willebrand disease (VWD) has been impacted not only by discoveries in the field of haemostasis, but also by changes in practice in other fields. The development of bleeding assessment tools has led to the clarification of bleeding symptoms and phenotype in VWD. New discoveries in the biology and genetics of von Willebrand factor (VWF) are challenging our existing diagnostics and classification(s). An improved understanding of reproductive physiology and the pathology of VWD along with changing obstetric, gynaecologic and haemostatic therapies necessitate an evolving response to the care of women with VWD. The survival of patients with autoimmune disease, malignancies and congenital heart disease along with increasing use of circulatory support devices and extracorporeal membrane oxygenation is increasing the prevalence of acquired von Willebrand syndrome. In each of these challenges, there are opportunities to improve the care of our patients with VWD.

The natural history of occult or angiodysplastic gastrointestinal bleeding in von Willebrand disease.

Recurrent gastrointestinal bleeding is one of the most challenging complications encountered in the management of patients with von Willebrand disease (VWD). The commonest cause is angiodysplasia, but often no cause is identified due to the difficulty in making the diagnosis. The optimal treatment to prevent recurrences remains unknown. We performed a retrospective study of VWD patients with occult or angiodysplastic bleeding within the setting of the von Willebrand Disease Prophylaxis Network (VWD PN) to describe diagnostic and treatment strategies. Centres participating in the VWD PN recruited subjects under their care with a history of congenital VWD and gastrointestinal (GI) bleeding due to angiodysplasia, or cases in which the cause was not identified despite investigation. Patients with acquired von Willebrand syndrome or those for whom the GI bleeding was due to another cause were excluded. Forty-eight patients from 18 centres in 10 countries were recruited. Seven individuals had a family history of GI bleeding and all VWD types except 2N were represented. Angiodysplasia was confirmed in 38%, with video capsule endoscopy and GI tract endoscopies being the most common methods of making the diagnosis. Recurrent GI bleeding in VWD is associated with significant morbidity and required hospital admission on up to 30 occasions. Patients were treated with multiple pharmacological agents with prophylactic von Willebrand factor concentrate being the most efficient in preventing recurrence of the GI bleeding. The diagnosis and treatment of recurrent GI bleeding in congenital VWD remains challenging and is associated with significant morbidity. Prophylactic treatment with von Willebrand factor concentrate was the most effective method of preventing recurrent bleeding but its efficacy remains to be confirmed in a prospective study.

Liver transplantation in neurological Wilson's Disease: is there indication? A case report.

Wilson's disease (WD) is an autosomal recessive disorder characterized by copper overload. In this disease, inadequate hepatic excretion leads to copper accumulation in the liver, brain, kidney, and cornea. Severe neurological symptoms can develop in patients with WD, often in the absence of relevant liver damage: it is unclear whether liver transplantation (LT) could reverse neurological symptoms, and at present LT is not recommended in this setting. We report a case of regression of neurological symptoms in a patient affected by WD with prevalent neurological involvement. A 19-year-old man with disabling neuropsychiatric symptoms from WD that included frontal ataxia, akinesia, dystonia, tremors, and behavioral disorders in the presence of preserved liver function (Model for End-Stage Liver Disease score=7; Child-Turcotte-Pugh score=A5) underwent LT in November 2009. At the time of LT, encephalic magnetic resonance imaging (MRI) indicated diffuse neurodegenerative alterations involving subtentorial and supratentorial structures; bilateral Kayser-Fleischer ring was present. Four years after LT, laboratory tests show normalized copper metabolism and excellent liver function test results. Encephalic MRI shows a substantial improvement of already-known signal alterations at nuclei thalamus and putamen, mesencephalon, and pons. Kayser-Fleischer ring disappeared from the right eye, but a little remnant is still visible in the left eye. At neurological examination, all of the previous symptoms and signs are no longer present and behavioral disorders are no longer present; psychosocial functions are completely restored. The present case provides some evidence that LT may be a valid therapeutic option for WD patients with marked neurological impairment, particularly in those no longer responsive to chelation therapy.

Pregnancy complications and obstetric care in women with inherited bleeding disorders.

Women with inherited bleeding disorders (IBD) require the input of a multidisciplinary team to improve outcomes of pregnancy. The role of the haemophilia nurse within the multidisciplinary team is to provide educational and emotional support to the women and to facilitate and co-ordinate patient-centred care. Prenatal diagnosis in cases of haemophilia is an integral part of the management of early pregnancy with a recent drive towards non-invasive prenatal diagnostic techniques. There is a current lack of data on the risk of miscarriage and bleeding complications during pregnancy. A clear association has only been established in women with fibrinogen and factor XIII deficiency. In the affected neonate with severe bleeding disorders such as haemophilia, the risk of head bleeding is significant, and appropriate management of labour and delivery has an important impact on reducing the risk. Women with IBD are at risk of both primary and secondary postpartum haemorrhage. Appropriate risk assessment and advance planning for haemostatic cover can reduce the bleeding risk.

The cancer screening monitoring system: indicators for organised programmes and possible extension to spontaneous screening.

European Commission recommends the implementation of organized screening programs for cervical cancer based on active invitation of the target population and with a systematic monitoring system and quality assurance. Nevertheless, in many Member States opportunistic screening is still the only or the main way to access Pap test. In Italy, Pap test coverage in women aged 25-64 is close to 80%, about half of them are screened in organized programs and half by opportunistic screening. Organized programs are diffused in the vast majority of the country (78% in 2009) even if in some cases they are not able to actively invite all the target population every three years (actual extension 67%); furthermore, participation rate after invitation is quite low (39%). Organized screening programs showed performance indicators in line with most of the international standards: low referral rates (2.4%), low inadequate cytological results (4.7%), and high positive predictive value for high grade cervical intraepithelial neoplasia (16.2%). Opportunistic screening has no systematic monitoring system. The coexistence of the two screening models, organized programs and opportunistic, can be a source of inappropriate use of secondary prevention duplicating the tests and favoring deviations from recommended protocols. The Italian Ministry of Health recommends re-organizing cervical cancer prevention favoring organized programs or integrating spontaneous Pap testing in an organized system. To implement such integration it is necessary to have monitoring system and quality assurance for all providers and to integrate archives in order to avoid over-testing and deviation from protocols.

Third Åland islands conference on von Willebrand disease, 26-28 September 2012: meeting report.

The first meeting of international specialists in the field of von Willebrand disease (VWD) was held in the Åland islands in 1998 where Erik von Willebrand had first observed a bleeding disorder in some members of a family from Föglö and a summary of the meeting was published in 1999. The second meeting was held in 2010 and a report of the meeting was published in 2012. Topics covered included progress in understanding of VWD over the last 50 years; multimers; classification of VWD; pharmacokinetics and laboratory assays; genetics; treating the paediatric patient; prophylaxis; geriatrics; gene therapy and treatment guidelines. This third meeting held over 3 days covered the structure and function of von Willebrand factor (VWF); type 1 VWD, the most common form of the disease; a lifespan of pharmacokinetics in VWD; detecting inhibitors in VWD patients; and special challenges in understanding and treating the female VWD patient.

Efficacy and safety during formulation switch of a pasteurized VWF/FVIII concentrate: results from an Italian prospective observational study in patients with von Willebrand disease.

Von Willebrand disease (VWD) is an inherited bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (VWF). Replacement therapy with plasma-derived VWF/factor VIII (FVIII) concentrates is required in patients unresponsive to desmopressin. To assess the efficacy, safety and ease of use of a new, volume-reduced (VR) formulation of VWF/FVIII concentrate Haemate(®) P in patients requiring treatment for bleeding or prophylaxis for recurrent bleeding or for invasive procedures. Pharmacoeconomic variables were also recorded. Data were analysed using descriptive statistics. This was a multicentre, prospective, observational study. Consecutively enrolled patients received Haemate(®) P VR according to their needs, and were followed for 24 months. Of the 121 patients enrolled, 25.6% had type 3 VWD and more than 40% had severe disease. All patients were followed for 2 years, for a total of 521 visits. On-demand treatment was given to 61.9% of patients, secondary long-term prophylaxis to 25.6% and prophylaxis for surgery, dental or invasive procedures to 45.5%. The response to treatment was rated as good to excellent in >93-99% of interventions. The new formulation was well tolerated by all patients with no report of drug-related adverse events. The switch to volume-reduced Haemate(®) P was easy to perform and infusion duration was decreased twofold compared with the previous formulation. Volume-reduced Haemate(®) P was at least as effective and well-tolerated as the previous formulation.

Prophylaxis in severe forms of von Willebrand's disease: results from the von Willebrand Disease Prophylaxis Network (VWD PN).

The bleeding patterns of severe von Willebrand's disease (VWD) adversely affect quality of life, and may be life threatening. There is a presumed role for prophylaxis with VWF-containing concentrates, but data are scarce. The von Willebrand Disease Prophylaxis Network (VWD PN) was formed to investigate the role of prophylaxis in clinically severe VWD that is not responsive to other treatment(s).Using a retrospective design, the effect of prophylaxis was studied. Availability of records to document, or reliably assess, the type and frequency of bleeding episodes prior to, and after, the initiation of prophylaxis was required. Annualized bleeding rates were calculated for the period prior to prophylaxis, during prophylaxis and by primary bleeding indication defined as the site accounting for more than half of all bleeding symptoms. The Wilcoxon signed-rank test of differences in the medians was used. Sixty-one subjects from 20 centres in 10 countries were enrolled. Data for 59 were used in the analysis. The median age at onset of prophylaxis was 22.4 years. Type 3 VWD accounted for the largest number (N = 34, 57.6%). Differences in bleeding rates within individuals during compared with before prophylaxis were significant for the total group (P < 0.0001), and for those with primary bleeding indications of epistaxis (P = 0.0005), joint bleeding (P = 0.002) and GI bleeding (P = 0.001). The effect of prophylaxis was similar among those age < 18 years and those ≥ 18. One person developed an inhibitor during treatment. We conclude that prophylactic treatment of VWD is efficacious.

[Implementation of the stewardship model in public health: proposal of an assessment tool for the Italian national prevention plan]. / Implementazione della stewardship in sanità pubblica: proposta di una metodologia valutativa applicabile al piano nazionale della prevenzione.

The stewardship model has been adopted as a system of governance in several countries. In Italy, the Ministry of Health has proposed the use of the stewardship model for implementing the activities of the National Prevention Plan 2010-2012. The authors present the conceptual foundations and methodology used in the development of an assessment tool (audit tool) for evaluating the level of implementation of the stewardship model with regards to the activities of the national prevention plan in all Italian regions.

von Willebrand's disease: a report from a meeting in the Åland islands.

von Willebrand's disease (VWD) is probably the most common bleeding disorder, with some studies indicating that up to 1% of the population may have the condition. Over recent years interest in VWD has fallen compared to that of haemophilia, partly the result of focus on blood-borne diseases such as HIV and hepatitis. Now the time has come to revisit VWD, and in view of this some 60 international physicians with clinical and scientific interest in VWD met over 4 days in 2010 in the Åland islands to discuss state-of-the-art issues in the disease. The Åland islands are where Erik von Willebrand had first observed a bleeding disorder in a number of members of a family from Föglö, and 2010 was also the 140th anniversary of his birth. This report summarizes the main papers presented at the symposium; topics ranged from genetics and biochemistry through to classification of VWD, pharmacokinetics and laboratory assays used in the diagnosis of the disease, inhibitors, treatment guidelines in different age groups including the elderly who often have comorbid conditions that present challenges, and prophylaxis. Other topics included managing surgeries in patients with VWD and the role of FVIII in VWF replacement, a controversial subject.