The Evolution of Hemophilia Pharmacological Treatments and Therapeutic Targets at the Turn of the Third Millennium.

Historically, the aim of treatment for hemophilia, the congenital X-linked hemorrhagic disorder due to deficiencies of coagulation Factor (F) VIII (hemophilia A) or FIX (hemophilia B), has been the replacement through factor concentrates, whose regular administration (i.e., prophylaxis) has been shown to be highly effective in preventing bleeding complications and it is currently considered the gold standard of hemophilia treatment.

Device associated healthcare associated infection (DA-HAI): a detailed analysis of risk factors and outcomes in a university hospital in Rome, Italy.

Introduction: This study investigates the impact of invasive procedures on healthcare-associated infections (HAI) at Policlinico Universitario Tor Vergata in Rome, Italy, aiming to understand their role in device-associated HAI and to inform prevention strategies.

Methods: A retrospective cohort analysis was conducted, examining mandatory discharge records and microbiology data from 2018 across all departments. The study focused on adult patients, analysing the correlation between invasive procedures and HAI through univariate and multivariate logistic regression.

Phenotypic Expansion of Autosomal Dominant -Related Disorders with Special Emphasis on Adult-Onset Features.

Leucine zipper-like transcription regulator 1 (LZTR1) acts as a negative factor that suppresses RAS function and MAPK signaling; mutations in this protein may dysregulate RAS ubiquitination and lead to impaired degradation of RAS superfamily proteins. Germline variants are reported in Noonan syndrome, either autosomal dominant or autosomal recessive, and in susceptibility to schwannomatosis. This article explores the genetic and phenotypic diversity of the autosomal dominant -related disorders, compiling a cohort of previously published patients (51 with the Noonan phenotype and 123 with schwannomatosis) and presenting two additional adult-onset cases: a male with schwannomatosis and Parkinson's disease and a female with Noonan syndrome, generalized joint hypermobility, and breast cancer.

Limitations and consequences of public health models centred on hospitals and lacking connections with territorial and home-based social and health services.

Background: Delayed discharge from hospital to home or other care institutions is a significant problem and has been investigated in the international scientific literature for many years. Behind this condition is a health care system based on a hospital-centered concept characterized by a lack of territorial health and social welfare services. This phenomenon causes two different problems: an excessive length of hospital stay, resulting in slow turnover of bed utilization; and overcrowding in emergency rooms (ERs).

Six-Year, Real-World Use of Prophylaxis with Recombinant Factor IX-Albumin Fusion Protein (rIX-FP) in Persons with Hemophilia B: A Single-Center Retrospective-Prospective Study.

: Extended half-life (EHL) factor IX (FIX) concentrates allow for prophylaxis with prolonged dosing intervals and high bleeding protection in persons with hemophilia B. Long-term real-world studies are lacking. : In a retrospective-prospective study, the six-year use of prophylaxis with the EHL recombinant FIX-albumin fusion protein (rIX-FP) was analyzed, comparing outcomes with previous standard half-life (SHL) FIX in patients already on prophylaxis.