Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic Management.

: Plexiform neurofibromas (pNFs) are benign neoplasms, primarily originating from Schwann cells, posing challenges in patients with type 1 neurofibromatosis (NF1) due to pain, disfigurement, compression of vital structures and potential for malignancy. Selumetinib, a MEK1/2 inhibitor, has shown promising results in treating inoperable pNFs, with clinical trials demonstrating tumor volume reduction and improved patient-reported outcomes. Despite its efficacy, dermatologic toxicities may impact the quality of life and treatment adherence.

Changes in the Use of Antibiotics for Methicillin-Resistant Bloodstream Infections in Children: A 5-Year Retrospective, Single Center Study.

Monitoring antibiotic use in the pediatric population is a challenge, especially when determining a relationship between specific pathogens, infections, and antibiotic use. We retrospectively analyzed the consumption of anti-methicillin-resistant (MRSA) drugs from 2017 to 2021 at Istituto Giannina Gaslini by means of defined daily dose (DDD) adopted for adults by World Health Organization. We observed a statistically significant increase in the use of daptomycin and ceftaroline, combined with a decrease in the use of vancomycin.

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Background: Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX-genes have been implicated in Mendelian diseases, but in some of the ultra-rare ZSD subtypes genotype-phenotype correlations and disease mechanisms remain elusive.

Methods: We report five families carrying biallelic variants in PEX13.

Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature.

Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, and the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome are two distinct clinical conditions caused by heterozygous mutations of the gene. While skin and joint involvements are shared by both conditions, PAMI is characterized by hepatosplenomegaly, pancytopenia, and growth failure. Kidney involvement is exceptional in PSTPIP1-mediated disorders.

Update on the Classification and Pathophysiological Mechanisms of Pediatric Cardiorenal Syndromes.

Cardiorenal syndrome (CRS) is defined as a disorder resulting from the abnormal interaction between the heart and kidney, in which acute or chronic dysfunction of one organ may lead to acute and/or chronic dysfunction of the other. The functional interplay between the heart and kidney is characterized by a complex bidirectional symbiotic interaction, regulated by a wide array of both genetic and environmental mechanisms. There are at least five known subtypes of CRS, based on the severity of clinical features and the degree of heart/renal failure.

"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".

Purpose: To report the incidence of 4-12% of differentiated thyroid cancer (DTC) and up to 50% of benign thyroid nodular disease and to describe nodular thyroid disease in a multicentre pediatric population with PTEN mutations.

Methods: Retrospective data of pediatric patients with PTEN mutations collected from tertiary Departments of Pediatric Endocrinology of Turin, Milan and Genua, Italy, in the period 2010-2020.

Results: Seventeen children with PTEN mutations were recruited in the study.

Prevention of Invasive Pneumococcal Disease: Problems Emerged After Some Years of the 13-Valent Pneumococcal Conjugate Vaccine Use.

Starting from 2010, the 13-valent pneumococcal conjugate vaccine (PCV13) was introduced in several countries. This paper discusses some of the problems recently emerged after PCV13 use and their clinical impact. The impact of PCV13 has been relevant and has saved millions of children and adults by severe infectious diseases.

Measles outbreak in the Lazio region of Italy: surveillance and impact on emergency departments and hospitalizations.

Background: The World Health Organization's (WHO) Regional Office for Europe had committed to 2015 as the year to eliminate measles from the region but several outbreaks have been reported recently from several areas of the continent. Here we describe an outbreak that occurred in 2010-2011 in Lazio region, Central Italy, and its impact on some health care services (i.e.

Methods to increase participation in organised screening programs: a systematic review.

Background: The European Community recommends the implementation of population-based screening programmes for cervical, breast, and colorectal cancers. This recommendation is supported by many observational studies showing that organised programmes effectively reduce mortality and control the inappropriate use of screening tests. We conducted a systematic review of studies assessing the efficacy of interventions to increase participation in organised population-based screening programs.

The effect of physician's recommendation on seasonal influenza immunization in children with chronic diseases.

Background: Despite recommendations by Health Authorities, influenza immunization coverage remains low in children with chronic diseases. Different medical providers involved in the management of children with chronic conditions may affect the pattern of influenza vaccine recommendations and coverage. The likelihood of vaccination by type of provider in children with chronic conditions is poorly understood.

How to increase uptake in oncologic screening: a systematic review of studies comparing population-based screening programs and spontaneous access.

Background: Cervical, breast and colorectal cancer (CRC) screenings are universally recommended interventions. High coverage of the target population represents the most important factor in determining their success. This systematic review aimed at assessing the effectiveness of population-based screening programs in increasing coverage compared to spontaneous access.

Meta-analysis: adherence to colorectal cancer screening and the detection rate for advanced neoplasia, according to the type of screening test.

Background: A variety of tests have been proposed for colorectal cancer (CRC), giving rise to uncertainty regarding the optimal approach. The efficacy and effectiveness of different tests are related to both screened participation and the detection rate.

Aim: To perform a meta-analysis on adherence and detection rates of CRC screening tests.

[Human Papilloma Virus (HPV), cervical cancer incidence and screening uptake: differences among Northern, Central and Southern Italy].

Objective: this article presents a review of evidences about Human Papillomavirus (HPV) and cervical cancer in Italy, highlighting geographical differences.

Design: two systematic reviews recently published were updated, one collecting studies on the prevalence of HPV types in Italy in the general population and the other collecting prevalence of HPV types in cervical pathologic samples.The search was updated to 31.

How socioeconomic status influences road traffic injuries and home injuries in Rome.

Road traffic injuries (RTI) and home injuries (HI) are a relevant public health problem, especially among people living in deprived areas. The objective of this study was to explore the relationship between morbidity, hospitalisation, mortality from RTI and HI, and socioeconomic status (SES) of the area of residence. RTI and HI surveillance based on the Emergency Information System, the Hospital Information System and the Mortality Registry of Lazio region are the three sources of this study to create a unique surveillance system.

HIV incidence estimate combining HIV/AIDS surveillance, testing history information and HIV test to identify recent infections in Lazio, Italy.

Background: The application of serological methods in HIV/AIDS routine surveillance systems to identify persons with recently acquired HIV infection has been proposed as a tool which may provide an accurate description of the current transmission patterns of HIV. Using the information about recent infection it is possible to estimate HIV incidence, according to the model proposed by Karon et al. in 2008, that accounts for the effect of testing practices on the number of persons detected as recently infected.

[Methods to increase participation in cancer screening programmes].

Objective: to synthesize scientific evidences about methods to increase cervical, breast and colorectal cancer screening participation.

Methods: a multidisciplinary working group has been set up to define the scope of the report and to conduct the evaluation. The scope and the final evaluation have been submitted to a stakeholder committee, including the Ministry of Health, the National Screening Observatory, regional screening program coordinators, scientific societies, and Lega Italiana Lotta ai Tumori, for comments and integrations.

Hospital cluster of HBV infection: molecular evidence of patient-to-patient transmission through lancing device.

Introduction: In western countries the transmission of hepatitis B virus (HBV) transmission through multi-patients lancing devices has been inferred since early '90s, however no study has ever provided biological evidence which directly link these device with HBV cross-infection. Here we present results of an outbreak investigation which could associate, by molecular techniques, the use of lancing device on multiple patients with HBV transmission in an Italian oncohematology unit.

Methods: The outbreak investigation was designed as a retrospective cohort study to identify all potential cases.

Early and mid-term clinical outcome of emergency PCI in patients with STEMI due to unprotected left main coronary artery disease.

Objectives: Evaluation of acute and mid-term outcomes of patients with ST-elevation myocardial infarction (STEMI) undergoing emergency PCI due to unprotected left main coronary artery (ULMCA) disease.

Background: STEMI patients due to ULMCA disease represent a rare, high risk group. Percutaneous coronary intervention (PCI) may be the preferred strategy of myocardial revascularization but there are few data about this topic.

The combination of depressive symptoms and smoking shorten life expectancy among the aged.

Background: Depression is a potential risk factor for mortality among the aged and it is also associated with other chronic diseases and unhealthy lifestyles that may also affect mortality. The purpose of this study was to investigate the association between depressive symptoms and mortality, controlling for health, nutritional status, and life-style factors.

Methods: A cohort of elderly people (N = 167) was followed-up for ten years.

Suspected transmission of tuberculosis in a maternity ward from a smear-positive nurse: preliminary results of clinical evaluations and testing of neonates potentially exposed, Rome, Italy, 1 January to 28 July 2011.

We report preventive measures adopted after tuberculosis(TB) transmission from a nurse to a newborn assessed in late July 2011. All exposed neonates born between January and July 2011 were clinically evaluated and tested by QuantiFERON TB gold in-tube; newborns testing positive were referred for prophylaxis.Of 1,340 newborns, 118 (9%) tested positive and no other active cases of TB were found.