Pleomorphic dermal sarcoma of the scalp with intracranial space involvement: management of a rare entity. Illustrative case.

Background: Exophytic tumors of the calvaria (ETCs) remain a challenging pathology because of their complex management. The authors discuss the case of a woman with a large exophytic mass of the right frontotemporal region and underline their decision-making process on the management of this unique case and possible similar ones.

Observations: Neuroradiological findings showed a calvarial tumor with both epicranial and intracranial extension involving the frontotemporal bone with a mixed component (lytic and sclerotic) and dural infiltration with a pseudonodular pattern.

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.

Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

Nutritional Trends in Cystic Fibrosis: Insights from the Italian Cystic Fibrosis Patient Registry.

Over the past decades, efforts have been made to improve the nutritional well-being of people with cystic fibrosis (pwCF). Due to the correlation observed between nutritional indices and lung function, prevailing recommendations consistently advocate for BMI percentile goals at or above the 50th percentile in pwCF. Recent global trends show a notable increase in overweight and obese statuses among pwCF.

Reported Adverse Events in a Multicenter Cohort of Patients Ages 6-18 Years with Cystic Fibrosis and at Least One F508del Allele Receiving Elexacaftor/Tezacaftor/Ivacaftor.

Objective: The objective of this study was to describe reported adverse events (AEs) associated with elexacaftor/tezacaftor/ivacaftor (ETI) in a pediatric sample with cystic fibrosis (CF) aged 6-18 years, with at least one F508del variant, followed at multiple Italian CF centers.

Study Design: This was a retrospective, multicenter, observational study. All children receiving ETI therapy from October 2019 to December 2023 were included.

Healthcare Workers: Heroes or Victims? Context of the Western World and Proposals to Prevent Violence.

Episodes of direct violence against healthcare workers and social workers represent a worrying and widespread phenomenon in Western countries. These violent attacks, whether verbal or physical, occur in various work environments, targeting professionals working in private facilities, medical practices, or those employed within the National Health System facilities. We conducted a search using a single search engine (PubMed) using the terms "violence against healthcare workers AND Western" for the period 2003-2023, identifying 45 results to which we added to the literature through hand searching.

Diagnosis and management of Achilles tendon ailments: the Scottish mist.

The diagnosis and management of Achilles tendon ailments continue to be widely discussed by the scientific community. Also, the nomenclature used to describe the tendinopathic lesion in patients changed over the last decades together with the evolution in the knowledge of the physiopathology of Achilles tendinopathy, and unfortunately, through ignorance and possibly laziness, confusion still abounds. To emerge from these foggy paths, some clarifications are still necessary.

Death Due to Anaphylactic Reaction: The Role of the Forensic Pathologist in an Accurate Postmortem Diagnosis.

: The diagnosis of anaphylaxis comprehensively depends on both situational information and laboratory investigations. For this purpose, serum tryptase concentration is examined as an indicator of systemic mast cell mediator release, linked to an underlying anaphylactic process. Increased levels of tryptase may occur in some events different from anaphylaxis, but usually information from crime scene investigations is lacking and autoptic findings are not specific.

Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.

Unlabelled: There is limited information available on the clinical data, sweat test trends, and outcomes of individuals with cystic fibrosis (CF) who present with an isolated episode of hypoelectrolytemia with metabolic alkalosis (HMA). This study describes a cohort of Italian individuals with HMA as presenting symptom. The study is a retrospective multicenter analysis of individuals who presented with HMA as an initial symptom and was followed at 8 Italian CF Centers, from March 1988 to March 2022.

Intermittent ventricular pre-excitation in symptomatic adults: Always a marker of low risk?

Background: Intermittent ventricular pre-excitation was considered a low-risk marker for sudden death. However, to date, some studies do not exclude the existence of accessory pathways (APs) with high-risk intermittent antegrade conductive properties. According to current European Guidelines, high-risk features of APs are antegrade pathway conduction ≤250 ms in baseline or during the adrenergic stimulus, inducibility of atrioventricular reciprocating tachycardias (AVRT), inducibility of pre-excited atrial fibrillation (AF), and presence of multiple APs.

Age at diagnosis influences the clinical phenotype, treatment strategies and outcomes in patients with giant cell arteritis: results from the observational GCAGE study on a large cohort of 1004 patients.

Background: Immune and vascular ageing are proposed risk factors for giant cell arteritis (GCA). Data on the impact of age at diagnosis of GCA on the clinical presentation and course of the disease are scarce.

Methods: Patients with GCA followed at referral centres within the Italian Society of Rheumatology Vasculitis Study Group were enrolled up to November 2021.

How to manage renal masses in kidney transplant recipients? A collaborative review by the EAU-YAU kidney transplantation and renal cancer working groups.

Introduction: Kidney transplant (KT) recipients have a four-times higher risk of renal malignancies compared to general population. As these patients frequently harbor bilateral or multifocal tumors, the management of renal masses is still under debate.

Objective: To explore the current management of the native kidney masses in KT patients.

Minimally invasive techniques: full endoscopic inferior parietal lobule approach for an endoventricular removal of a left trigone meningioma grade I.

Intraventricular meningiomas are rare tumors, mainly localized in the lateral ventricle trigone. Several microscopic surgical approaches have been proposed according to the location of the tumors in the atrium. The authors present the case of a 68-year-old woman who had an increscent medically resistant headache with a left trigone meningioma.

Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.

Background: In recent years, patients with cystic fibrosis (CF) conductance regulator (CFTR) variant poly(T) sequences have been increasingly reported with a wide spectrum of clinical severity. We describe the long-term clinical outcomes and progression to a CF diagnosis over time in a large Italian cohort of patients carrying the CFTR F508del/5T;TG12 genotype.

Methods: A retrospective analysis of subjects from 10 CF centres in Italy with the F508del/5T;TG12 genotype was performed.

Elexacaftor/Tezacaftor/Ivacaftor in Patients with Cystic Fibrosis Homozygous for the Mutation and Advanced Lung Disease: A 48-Week Observational Study.

Background: Elexacaftor/tezacaftor/ivacaftor (ETI) is the newest cystic fibrosis transmembrane conductance regulator () modulator drug approved for the treatment of patients with cystic fibrosis (pwCF) aged ≥6 years with at least one copy of the mutation () in the gene or another mutation that is responsive to treatment with ETI. This study determined the effectiveness and safety of ETI in a cohort of severely affected pwCF with an genotype.

Methods: Retrospective observational study in pwCF treated for 48 weeks, enrolled in an ETI managed access program available to subjects with advanced lung disease (ppFEV < 40).

Awake pronation with helmet continuous positive airway pressure for COVID-19 acute respiratory distress syndrome patients outside the ICU: A case series.

Objective: Continuous positive airway pressure (CPAP) is an important therapeutic tool in COVID-19 acute respiratory distress syndrome (ARDS) since it improves oxygenation, reduces respiratory rate and can prevent intubation and intensive care unit (ICU) admission. CPAP during pronation has seldom been described and never during sedation.

Design: Case series.

Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.

Background: A1006E is a Cystic Fibrosis (CF) mutation that is still not widely known. We report phenotypic features and geographic distribution of the largest cohort of people with CF (pwCF) carrying A1006E to date.

Methods: Study of European pwCF carrying A1006E mutation, included in the European CF Society Patient Registry (ECFSPR).

Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype.

Background: Elexacaftor/tezacaftor/ivacaftor (E/T/I) is a cystic fibrosis transmembrane conductance regulator (CFTR) triple combination therapy used for the treatment of cystic fibrosis (CF) in patients aged ≥12 years who have at least one copy of the Phe508del mutation (F) in the CFTR gene or another mutation that is responsive to treatment with E/T/I. This study determined the effectiveness and safety of E/T/I treatment in a cohort of CF patients.

Methods: This retrospective cohort study collected data from the first 6 months of treatment of patients with CF, compound heterozygotes for the F and a minimal function (MF) mutations, enrolled in an E/T/I compassionate use program only available to patients having ppFEV<40 or who are considered for lung transplantation.

Elexacaftor/tezacaftor/ivacaftor as rescue therapy in a patient with the cystic fibrosis genotype /.

// (ETI) is a cystic fibrosis (CF) transmembrane regulator (CFTR) modulator. It is known to be efficacious in stable patients with severe pneumopathy, but there are few data concerning its effectiveness during acute exacerbations. We here describe its use in a woman with CF and respiratory failure.

Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry.

Background: People with cystic fibrosis (pwCF) and a minimal function (MF) mutation are poorly characterized. The aim of this study was to evaluate the disease characteristics of adult and pediatric pwCF with a genotype including an MF mutation on the basis of 2018 data from the Italian CF Registry (ICFR).

Methods: This cross-sectional, descriptive analysis of CF disease characteristics included all of the pwCF with at least one MF mutation or two F508del (F) mutations, and at least one 2018 entry in the ICFR.