A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs

MID1/TRIM18 is a member of the RING-containing Tripartite Motif family of E3 ubiquitin ligases. MID1 mutations cause X-linked Opitz Syndrome (XLOS), a neurodevelopmental genetic disease. We detected a Cys56Arg substitution in a family with history of midline developmental defects as the first variant identified in MID1 catalytic RING domain. This variant affects MID1 ubiquitin E3 activity and alters MID1 subcellular localisation and microtubule dynamics in a unique manner if compared to the other XLOS-associated mutations. Our data suggest that the relationship between MID1 activity and its cellular distribution is a crucial issue to fully understand MID1 physio-pathological role

Peristomal Skin Complications in Ileostomy and Colostomy Patients: What We Need to Know from a Public Health Perspective

Background: Peristomal skin complications (PSCs) are the most common skin problems seen after ostomy surgery. They have a considerable impact on a patient's quality of life and contribute to a higher cost of care. Methods: A systematic review was conducted, querying three databases. The analysis was performed on international studies focused on the clinical-epidemiological burden of PSCs in adult patients with ileostomy/colostomy. Results: Overall, 23 studies were considered. The main diseases associated with ostomy surgery were rectal, colon and gynecological cancers, inflammatory bowel diseases, diverticulitis, bowel obstruction and intestinal perforation. Erythema, papules, skin erosions, ulcers and vesicles were the most common PSCs for patients with an ostomy (or stoma). A PSCs incidence ranging from 36.3% to 73.4% was described. Skin complications increased length of stay (LOS) and rates of readmission within 120 days of surgery. Conclusions: PSCs data are still limited. A knowledge of their burden is essential to support health personnel and decision-makers in identifying the most appropriate responses to patients' needs. Proper management of these complications plays a fundamental role in improving the patient's quality of life. A multidisciplinary approach, as well as increased patient education and their empowerment, are priority measures to be implemented to foster a value-based healthcare

Influenza Vaccination Assessment according to a Value-Based Health Care Approach

Background: Seasonal influenza has a considerable public health impact, and vaccination is the key to preventing its consequences. Our aim was to describe how the value of influenza vaccination is addressed in the scientific literature considering a new value framework based on four pillars (personal, allocative, technical, and societal value). Methods: A systematic review was conducted by querying three databases. The analysis was performed on international studies focused on influenza vaccination value, and the four value pillars were taken into consideration for their description. Results: Overall, 40 studies were considered. Most of them focused on influenza vaccination in the general population (27.5%), emphasizing its value for all age groups. Most studies addressed technical value (70.4%), especially in terms of economic models and cost drivers to be considered for the economic evaluations of influenza vaccines, and societal value (63%), whereas few dealt with personal (37%) and allocative values (22.2%). Conclusions: The whole value of influenza vaccination is still not completely recognized. Knowledge and communication of the whole value of influenza vaccination is essential to guide value-based health policies. To achieve this goal, it is necessary to implement initiatives that involve all relevant stakeholders

A preventive cytokine treatment of the viral infectious bursal disease (IBD) of chickens

Infectious bursal disease (IBD) is a viral disease of young chickens that produce severe lesions in the bursa of Fabricius and other organs inducing immunosuppression and mortality in birds. This study indicates that oral administration of IFN-α and IL-2 during 16 days produced a significant reduction in animals’ morbidity and mortality to IBD virus (IBDV) infection accompanied with a decrease in symptoms and bursal tissue damage. The treatment also increased body weight, not only in birds challenged with IBDV, but also in uninfected controls. Infected birds treated with cytokines presented the same bursal index and organs’ weight that controls; since untreated animals showed a significant decrease in these parameters. Finally, cytokine administration represents a new alternative to IBDV vaccination.Fil: Mattiello, Rosana. Universidad de Buenos Aires. Facultad de Ciencias Veterinarias; ArgentinaFil: D'Ambrosio, Elisa. Universidad de Buenos Aires. Facultad de Ciencias Veterinarias; ArgentinaFil: Wilda, Maximiliano. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Ciencia y Tecnología "Dr. César Milstein"; ArgentinaFil: Martínez Sayé, Melisa Soledad. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Miranda, Mariana Reneé. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Maure, Pablo. Centro de Inmunoterapia Veterinaria; ArgentinaFil: Pereira, Claudio Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Di Girolamo, Fabio Augusto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires". Facultad de Ciencias Agrarias; Argentin

Cervical cancer elimination in Italy: Current scenario and future endeavors for a value based prevention

BackgroundCervical Cancer (CC) is a vaccine-preventable disease, and it is treatable if diagnosed early and managed properly. However, it is the fourth most common cancer in women worldwide with about 604,127 cases and 341,831 deaths in 2020. In Italy, it represents the fifth most common cancer in women under 50 years of age with about 2,400 new cases in 2020. The CC elimination is today a global public health goal published by the World Health Organization (WHO) in 2020 and a commitment of the European Union that has included it in Europe's Beating Cancer Plan. Therefore, urgent action is needed, at international and national level, to implement value-based interventions regarding vaccination, screening and timely management of the disease. Our study aims to describe the state of the art of Human Papilloma Virus (HPV) prevention in Italy and to get a consensus on indicators for monitoring the progress toward CC elimination at national level. MethodsThe study envisaged the following activities: research and synthesis of the evidence on strategies and actions for CC elimination at regional Italian level; identification of indicators to monitor such strategies/actions; organization of a multi-stakeholder consensus to reach the agreement on main indicators to be used in Italy. ResultsAs for HPV vaccination coverage, the last Italian available data (December 31st, 2020) showed that it was way below the target (95%) with full cycle vaccination coverage ranging from 6 to 61.7% in female adolescents and from 5.4 to 55.4% in male adolescents (2008 birth cohorts). The coverage rate of CC screening is variable with a range of 61.7-89.6%. Furthermore, coverage rates due to organized screening programs (excluding out-of-pocket screening) shows a range from 20.7 to 71.8%. The mapping of the Italian Regions highlighted an important regional heterogeneity in respect to organizational/operational issue of HPV vaccination and CC screening. Indicators for monitoring CC elimination strategies have been drawn from the Australian experience and distinguished by disease outcomes, vaccination coverage, screening participation and treatment uptake. The highest consensus was reached for the following indicators: CC incidence; detection of high-grade cervical disease; CC mortality; full cycle vaccination coverage; screening participation; high-grade cervical disease treatment rates; CC treatment rates. ConclusionsThe assessment of the current status of CC elimination as overarching goal beyond the achievement of vaccine, screening and treatment targets represents the first step for the identification of interventions to be implemented to accelerate the path toward CC elimination. Based on this and following the WHO call, a value-based approach is proposed to untangle the full benefit of HPV-related cancers elimination strategies and identify priority and best practices

Advanced liver disease outcomes after hepatitis C eradication by human immunodeficiency virus infection in PITER cohort

Liver disease progression after Hepatitis C Virus (HCV) eradication following direct-acting antiviral (DAA) treatment in the real-life setting according to Human Immunodeficiency Virus (HIV) coinfection was evaluated

[The new 15-valent pneumococcal conjugate vaccine for the prevention of S. pneumoniae infections in pediatric age: a Health Technology Assessment]

Questo capitolo sintetizza gli aspetti più rilevanti emersi dalla valutazione HTA del vaccino coniugato antipneumococcico 15-valente (PCV15) per la prevenzione delle infezioni da S. pneumoniae in età pediatrica