Cardiac involvement was present early in more than a half of the patients identified as having mucopolysaccharidosis, and generally progressed, being more frequent and severe in the first and second types of the disease. Longer follow-up is needed to demonstrate any significant improvement induced by new therapies.

Hunter disease is an X-linked lysosomal storage disorder characterized by progressive storage of glycosaminoglycans (GAGs) and multi-organ impairment. The central nervous system (CNS) is involved in at least 50% of cases. Since 2006, the enzymatic replacement therapy (ERT) is available but with no effect on the cognitive impairment, as the present formulation does not cross the blood–brain barrier. Here we report the outcome of 17 Hunter patients treated in a single center. Most of them (11) started ERT in 2006, 3 had started it earlier in 2004, enrolled in the phase III trial, and 3 after 2006, as soon as the diagnosis was made. The liver and spleen sizes and urinary GAGs significantly decreased and normalized throughout the treatment. Heart parameters improved, in particular the left ventricular mass index/m2 decreased significantly. Amelioration of hearing was seen in many patients. Joint range of motion improved in all patients. However, no improvement on respiratory function, eye, skeletal and CNS disease was found. The developmental quotient of patients with a CNS involvement showed a fast decline. These patients were no more testable after 6 years of age and, albeit the benefits drawn from ERT, their quality of life worsened throughout the years. The whole group of patients showed a consistent residual disease burden mainly represented by persistent skeletal disease and frequent need of surgery. This study suggests that early diagnosis and treatment and other different therapies which are able to cross the blood–brain barrier, might in the future improve the MPS II outcome.

Mucopolysaccharidoses (MPS) are a group of hereditary disorders caused by lysosomal storage of glycosaminoglycans (GAGs) and characterized by a wide variability of phenotypes from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals. The clinical picture generally worsens with age due to progressive storage involving mucosal tissue, upper airways and lungs, bones and joints, central and peripheral nervous system, heart, liver, eye, and ear. Cardiac storage of GAGs involves valves, heart muscle, and vessels (particularly the coronary arteries), and can be specific in relation to different MPS types and enzyme defects. MPS I, II, and VI are those with the most severe cardiac involvement. The cardiologist is a key figure in MPS, and their role is expanding from cardiac-specific management to early diagnosis when the mild disease phenotypes have not yet been recognized by other specialists. Familial and personal history, electrocardiography, imaging, and laboratory findings represent important steps in the clinical investigation of these patients. New treatments have led to an increased need for cardiologists to be on the lookout for MPS patients since they can significantly improve the lives of people with MPS if they suspect the diagnosis and refer them for enzyme replacement therapy or bone marrow transplantation.

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Mucopolysaccharidoses (MPSs) are a group of hereditary, monogenic disorders caused by lysosomal storage of glycosaminoglycans. Their incidence as a group is between 1:25,000 and 1:45,000. At present 11 different enzyme deficiencies are know to be responsible of 7 similar but distinct diseases. The diagnosis is suspected clinically but must be confirmed through biochemical, enzymatic and molecular analysis. Prenatal diagnosis is feasible for each disease. The phenotype worsens with age, due to progressive storage, and mainly involves mucosal tissue, upper airways and lungs, bones and joints, central and peripheral nervous system, heart, liver, eye and ear. Any type of MPSs, is characterized by a wide variability of phenotype ranging from a severe fetal-neonatal disease to an attenuated form diagnosed in adult individuals. Recently new treatments, like hematopoietic stem cell transplantation and enzymatic replacement therapy, became available for many of these disorders entailing the urgency of early diagnosis to allow access to therapies. Thanks to therapies these patients have a longer life than in the past and this implies that also palliative treatments, of which the cardiological ones have a prominent part, must be undertaken diligently. The cardiologist may face, more frequently than expected, with the need to diagnose a patient with MPS who was not recognized by other specialists. The echocardiographic features of these patients are typical and may help in the clinical diagnosis. The future probably deserves to these disorders other new treatments or combination therapies, which might further improve prognosis of these diseases

Objective: To discuss the impact of COVID-19 vaccines on the urological field and to review the available data in the literature. Material and Methods: All the related reports and original articles discussing COVID-19 vaccines and their impact on the urological field were searched in PubMed, Scopus, and Web of Science. Results: There are few published articles discussing the COVID-19 vaccine impact on urology. Vaccine safety was confirmed in this field as no major side effects were described. AKI (Acute Kidney Injury) was reported in selected populations. However, about 1% of the side effects was urological. Rare genital complications, low urinary tract symptoms, and occasional gross hematuria were reported. Fertility seems to be not impaired after vaccination. A potential misinterpretation of radiological findings in the oncological field has been reported. Conclusions: In the literature, there are few studies regarding COVID-19 vaccines and their impact on the urological and andrological fields. We need more studies and extended follow-ups after repeated vaccinations in order to have more corroborating data particularly in selected populations, such as kidney transplant recipients and oncological patients.

Background: The aim of this paper is to discuss the impact of COVID-19 on patients with urological malignancies (prostate cancer, bladder and upper tract urothelial cancer, kidney cancer, penile and testicular cancer) and to review the available recommendations reported in the literature. Methods: A review was performed, through the PubMed database, regarding available recommendations reported in the literature, to identify studies examining the impact of COVID-19 on treatment and clinical outcomes (including upstaging, recurrence, and mortality) for uro-oncological patients. Results: The COVID-19 pandemic dramatically changed the urological guidelines and patients’ access to screening programs and follow-up visits. Great efforts were undertaken to guarantee treatments to high-risk patients although follow up was not always possible due to recurrent surges, and patients with lower risk cancers had to wait for therapies. Conclusions: Physically and mentally, uro-oncological patients paid a heavy price during the COVID-19 pandemic. Long term data on the “costs” of clinical decisions made during the COVID-19 pandemic are still to be revealed and analyzed.

Background: Human papillomavirus (HPV) infection is the most common sexually transmitted viral infection in the world. HPV vaccination adherence rates in men are generally lower than in women. The aim of this systematic review and meta-analysis was to assess adherence to HPV vaccination in young working-age males (18–30 years old). Methods: A systematic review was performed using three databases: PubMed, Scopus, and Web of Science, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Results: After duplicate removal, the initial search resulted in 478 eligible papers. With the exclusion of 425 papers after screening the abstracts, full texts of 53 articles were reviewed. Subsequently, 45 were excluded. Among the eight studies included, four (50%) examined the vaccination adherence in young adults through data registered in nationwide insurance or private companies’ databases, three (37.5%) in young adults in different settings through data collected from surveys and questionnaires, and one (12.5%) an HPV vaccination campaign in a family medicine residency practice. Conclusion: Adherence to HPV vaccination in men of working age (18–30 years) does not appear to be adequate (pooled prevalence 11%). In order to achieve a higher level of compliance, it is important to place an emphasis on vaccination campaigns in schools as well as in the workplace, after consultation with and approval from local, regional, and federal public health agencies.