[Italian Cystic Fibrosis Registry (ICFR). Report 2021-2022].

Introduction: Italian Cystic Fibrosis Registry (ICFR) collects data of patients with cystic fibrosis (CF) through the collaboration with Italian CF referral and support Centres (Italian law 548/93). It aims at analysing medium and long-term clinical and epidemiological trends, identifying healthcare needs at regional and national levels, contributing to healthcare programmes, and resource allocation. Italian data are also compared at international level through the collaboration with the European CF Registry for sharing epidemiological data on general aspects like CF epidemiology and specific topics such as the use of CFTR modulators.

Optimizing the winemaking process: NIR spectroscopy and e-nose analysis for the online monitoring of fermentation.

Background: In the winemaking process, the rapid determination of specific quality parameters such as sugar content, pH, acidity, concentrations of phenolic compounds, anthocyanins and volatile organic compounds is crucial for high-quality wine production. Traditional analytical methods allow for precise quantification of these parameters but are time-consuming and expensive. This article explores the potential application of non-destructive analytical technique (NDAT) (near infra-red [NIR] and e-nose), as efficient alternatives for online monitoring of fermentation working on two different winemaking tanks and applying chemometrics to develop predictive models to correlate non-destructive and analytical data.

[Italian Cystic Fibrosis Registry (ICFR). Report 2019-2020].

Introduction: Italian cystic fibrosis registry (ICFR) collects data from cystic fibrosis (CF) patients through the collaboration with Italian CF referral and support Centres (Italian law 548/93). ICFR contributes: • to the analysis of medium and long term clinical and epidemiological trends of the disease; • to the identification of the main health care needs at regional and national level to contribute to the Health Care programmes and to the distribution of resources; • to the comparison of the Italian data with international ones. This latter is based on the collaboration with the European CF registry and, due the COVID-19 pandemic emergency, with important global projects.

Post-COVID-19 Lung Transplantation Italian Pivotal Protocol: Some Ethical Considerations.

SARS‑CoV‑2 mostly affects the respiratory system with clinical patterns ranging from the common cold to fatal pneumonia. During the first wave of the COVID-19 pandemic, owing to the high number of patients who were infected with SARS‑CoV‑2 and subsequently recovered, it has been shown that some patients with post-COVID-19 terminal respiratory failure need lung transplantation for survival. There is increasing evidence coming from worldwide observations that this procedure can be performed successfully in post-COVID-19 patients.

Vulnerability and ethical issues faced by general practitioners during the COVID-19 pandemic in Italy: some reflections and lessons learned.

Vulnerability during the coronavirus disease 2019 (COVID-19) pandemic is an emotional state that affects all of us globally. The Italian experience shows that our general practitioners (GPs) seem to have a higher rate of death due to COVID-19 infection than other physicians.

[Italian Cystic Fibrosis Registry (ICFR). Report 2017-2018].

Introduction: On the 15th of November 2020, the National Centre for Rare Diseases of the Italian National Health Institute, clinicians of the Italian National Referral and Support Centres for Cystic Fibrosis, Children's Hospital "Bambino Gesù", Italian Cystic Fibrosis Society, Italian League for Cystic Fibrosis renewed the agreement about CF data flow for a 3-year period. The possibility to access data by third parties is among the most important innovation introduced within the agreement.

Objectives: Aim of the present Report is to improve the know-how of cystic fibrosis (CF) through a better characterization of Italian patients.

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

Background: For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outstanding molecular investigations, common protocols and dedicated actions at national and international levels; thus, many "Undiagnosed RDs programs" have been gradually developed on the grounds of a well-structured multidisciplinary approach.

Methods: The Italian Undiagnosed Rare Diseases Network (IURDN) was established in 2016 to improve the level of diagnosis of persons with URD living in Italy.

The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?

(1) Background: Diagnostic testing for cystic fibrosis (CF) is based on a sweat chloride test (SCT) considering the appropriate signs and symptoms of the disease and results of a gene mutation analysis. In 2014, the Istituto Superiore di Sanità (ISS) established a pilot Italian external quality assessment program for CF SCT (Italian EQA-SCT), which is now a third party service carried out by the ISS. (2) Methods: The ongoing scheme is prospective, enrollment is voluntary, and the payment of a fee is required.

Anonymity and Organ Donation: Ethical and Policy Implications After the Opinion Released by the Italian Committee for Bioethics.

According to Law 91/1999, art. 18, in Italy, health care professionals and administrative staff involved in the process of organ collection and transplantation are required to ensure anonymity of both the donor and the recipient. Against this backdrop, in 2018, the Italian Committee for Bioethics (ICB) released an official opinion titled "Opinion on the preservation of the anonymity of donor and receiver in the transplantation of organs" that offers a new perspective on the topic, effectively opening the possibility of anonymity ending at certain conditions.

Organ Transplantation From Nonstandard Risk Donors: Midway Between Rigid and Flexible Rules.

In order to bridge the gap between available organs and patients needing transplants, donor selection criteria for donors are increasingly being extended; the possibility of using organs from nonstandard risk donors has been introduced in many countries. This clearly poses considerable ethical issues that should be analyzed and taken into consideration by the competent bodies and institutions. In this article, we illustrate the Italian situation regarding the possibility of using organs from anti-hepatitis C virus (HCV) and HCV RNA-positive donors (anti-HCV+ve) in negative recipients (healthy subjects who have never come into contact with the hepatitis C virus) in light of the availability of new direct-acting antiviral drugs (DAAs) for hepatitis C treatment.

[Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016].

Introduction: On the 27th of October 2017 the National Center for Rare Diseases of the Italian National Health Institute (NHI), clinicians of the Italian National Referral and Support Centres for Cystic Fibrosis, Paediatric Hospital "Bambino Gesù", Italian Cystic Fibrosis Society, and the Italian League for Cystic Fibrosis renewed the agreement about FC data flow for a 3 years period. The possibility to access data by third parties is among the most important new introduced within the agreement.

Objectives: Aim of the present report is to improve the know-how on cystic fibrosis (CF) through a better characterization of Italian patients.

From Experimental Technique to Clinical Practice: Which Pathway in Transplant Surgery?

The question of whether a medical procedure is to be considered experimental or routine practice has enormous practical implications. In transplant surgery, as compared with pharmacologic clinical trials, the transition from experimental procedure to normal care is far from clear cut. Clinical trials comprise 4 well-established phases of evaluation going from phase I, aimed at assessing safety and identifying side effects in a few healthy volunteers, to phase IV, which involves entire populations and is aimed at long-term postmarketing surveillance.

Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.

The time required to reach a correct diagnosis is a key concern for rare disease (RD) patients. Diagnostic delay can be intolerably long, often described as an "odyssey" and, for some, a diagnosis may remain frustratingly elusive. The International Rare Disease Research Consortium proposed, as ultimate goal for 2017⁻2027, to enable all people with a suspected RD to be diagnosed within one year of presentation, if the disorder is known.

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.

Background: Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. In this paper, we present the data from the first 4 years of activity (2013-2016) following the introduction of performance criteria.

[Italian Cystic Fibrosis Registry. Report 2011-2014].

Introduction: The Italian Cystic Fibrosis Registry (ICFR) is based on a new agreement about the data flow towards the Registry signed on October, 4th 2016 by the Centre for Rare Diseases of the Italian National Institute of Health (NIH), the clinicians of the Italian National Referral and Support Centres for Cystic Fibrosis, the Paediatric Hospital "Bambino Gesù" (Rome), the Italian Cystic Fibrosis Society, and the Italian League for Cystic Fibrosis.

Objectives: The aim of the present Report is to improve the knowledge on cystic fibrosis (CF) through the epidemiological description of Italian patients. The members of the Scientific and Technical Committee have to write a report on data collected by ICFR, in order to contribute to achieve the aims of ICFR itself, i.

Italian external quality assessment program for cystic fibrosis sweat chloride test: a 2015 and 2016 results comparison.

Background: Diagnostic testing in cystic fibrosis (CF) is based on the sweat chloride test (SCT) in the context of appropriate signs and symptoms of disease and results of the gene mutation analysis. In 2014 the Istituto Superiore di Sanità (ISS) established a pilot Italian external quality assessment program for CF sweat chloride test (Italian EQA-SCT). In 2015 this activity was recognized as a third party service carried out by the ISS.

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.

Rare diseases (RD), according to European Union criteria, affect 5 per 10,000 persons, or 30 million people, in the EU; in the USA, RD are defined as conditions that affect fewer than 200,000 individuals in the population (320 million). Most known rare disorders are severe and chronic, with many being degenerative and life threatening. There are roughly 5000-8000 rare diseases (European Commission, DG Health and Food Safety, Public Health, Rare Diseases, Policy.

The Italian pilot external quality assessment program for cystic fibrosis sweat test.

Objectives: Sweat chloride test is the gold standard test for cystic fibrosis (CF) diagnosis. In 2014 the Istituto Superiore di Sanità established the Italian pilot external quality assessment program for CF sweat test (IEQA-ST).

Design And Methods: Ten laboratories, included among the 33 Italian CF Referral Centers, were selected and enrolled on the basis of their attitude to perform sweat test (ST) analysis by using methods recommended by the Italian Guidelines.

Radiation Exposure in Transjugular Intrahepatic Portosystemic Shunt Creation.

Purpose: Transjugular intrahepatic portosystemic shunt (TIPS) creation is considered as being one of the most complex procedures in abdominal interventional radiology. Our aim was twofold: quantification of TIPS-related patient radiation exposure in our center and identification of factors leading to reduced radiation exposure.

Materials And Methods: Three hundred and forty seven consecutive patients underwent TIPS in our center between 2007 and 2014.

The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposis Coli (APC). Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories. Seven rounds have been performed until now and the eighth is in progress.