Publications by authors named "PENNISI G"

Background & Aims: Current guidelines recommend a 2-step approach for risk stratification in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) with Fibrosis-4 index (FIB-4) followed by liver stiffness measurement (LSM) by vibration-controlled transient elastography (VCTE) or similar second-line tests. This study aimed to examine to prognostic performance of this approach.

Methods: The VCTE-Prognosis Study was a longitudinal study of patients with MASLD who had undergone VCTE examinations at 16 centres from the US, Europe and Asia with subsequent follow-up for clinical events.

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Background: To date, few data to transcranial Doppler sonography (TCD) are available in patients with mild vascular cognitive impairment (VCI) at risk for vascular or mixed dementia. In a previous study in patients with mild VCI and cerebral small vessels disease, a hemodynamic pattern of cerebral hypoperfusion and enhanced vascular resistance were observed; however, longitudinal data are currently lacking. Here, we perform a clinical, psychopathological, and neurosonological follow-up of patients with VCI in order to monitor any progression and to identify TCD measures to detect it.

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In glioblastoma, glioma-associated microglia/macrophages (GAMs) represent the major population of tumor infiltrating cells, with up to one half of the cells of the tumor mass. Recent studies have shown that microglia are involved in the maintenance of immunological homeostasis and protection against autoimmunity. However, despite the growing body of evidence on the topic, many aspects are yet to be clarified.

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Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a global epidemic. MASLD has a strong genetic component, and a common missense variant (rs2642438) in the mitochondrial amidoxime-reducing component 1 (MARC1) gene confers protection against its onset and severity. However, there are contrasting results regarding the mechanisms entangling this protection.

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Background & Aims: Noninvasive tests (NITs) for ruling-out clinical significant portal hypertension (CSPH) and high-risk varices (HRVs) in patients with primary biliary cholangitis (PBC) and compensated advanced chronic liver disease (cACLD) are lacking. We evaluated NITs in these patients and the influence of cholestasis on their performance.

Methods: Consecutive patients from the "Italian PBC registry" and 2 United Kingdom large-volume PBC referral centers with upper endoscopy within 6 months from biochemical evaluation and transient elastography were included.

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Background: In adults, the cerebellopontine angle (CPA) pilocytic astrocytoma (PA) is very rare. This tumor has radiological features similar to those of a vestibular schwannoma in the few cases reported in the literature.

Methods: In this study, we conducted a systematic review in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol and scrutinized all original studies pertaining to pontocerebellar angle PA in adult patients.

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Purpose: To assess the performance and the reproducibility of ultrasound-guided attenuation parameter (UGAP) and two-dimensional shear wave elastography (2D-SWE) in patients with biopsy-proven metabolic dysfunction-associated steatotic liver disease (MASLD).

Methods: This study included consecutive adult patients with MASLD who underwent ultrasound with UGAP, 2D-SWE and percutaneous liver biopsy. The median values of 12 consecutive UGAP measurements were acquired by two independent radiologists (R1 and R2).

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Article Synopsis
  • Scientists studied a health problem called MASH, which affects people's livers, and worked on two tests to help doctors tell if someone has it.
  • They looked at data from over 3,000 people to make sure their first test, called acMASH, worked well, and then created a new test called acFibroMASH to find more severe cases.
  • The new acFibroMASH test was better at predicting who might have future liver problems compared to another test, showing it's a useful tool for doctors to keep patients healthy.
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Background: Peri-electrode edema after deep brain stimulation (DBS) surgery for Parkinson Disease (PD) has been reported in up to 100% of cases. The clinical significance of this finding is unclear, with most papers suggesting a benign course. The risk factors are also poorly defined.

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Article Synopsis
  • Glioblastoma (GBM) is a highly aggressive brain tumor with a low five-year survival rate of only 6.8%, and current treatment methods have not changed in over a decade despite advances in understanding its biology.
  • The hTERT promoter mutations, found in up to 80% of GBM cases, present a potential target for therapy through telomerase inhibition, which is essential for cancer cell proliferation.
  • This systematic review analyzed 777 articles to assess telomerase-targeted therapies, revealing that while some compounds show promise in preclinical stages, they often fail in clinical trials due to complex biological challenges and poor pharmacokinetics.
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Importance: The recent change in terminology from nonalcoholic fatty liver disease (NAFLD) to metabolic dysfunction-associated fatty liver disease (MAFLD) and metabolic dysfunction-associated steatotic liver disease (MASLD) highlights the link between hepatic steatosis and metabolic dysfunction, taking out the stigmata of alcohol.

Objective: We compared the effects of NAFLD and MAFLD definitions on the risk of overall and cardiovascular (CV) mortality, liver-related events (LRE), nonfatal CV events (CVE), chronic kidney disease (CKD), and extra-hepatic cancers (EHC).

Data Sources And Study Selection: We systematically searched four large electronic databases for cohort studies (published through August 2023) that simultaneously used NAFLD and MAFLD definitions for examining the risk of mortality and adverse CV, renal, or oncological outcomes associated with both definitions.

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  • Statins provide multiple benefits for patients with metabolic-associated steatotic liver disease (MASLD), particularly in reducing long-term risks of all-cause mortality and liver-related clinical events (LREs).
  • A study followed 7988 patients for nearly 4.6 years, revealing that statin users had significantly lower risks of mortality (HR=0.233) and LREs (HR=0.380), as well as slower liver stiffness progression rates.
  • While statin usage is linked to a decrease in the progression of liver stiffness, it did not significantly correlate with liver stiffness regression, suggesting a complex relationship in liver health management.
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Background: The treatment of aneurysmal subarachnoid hemorrhage poses a formidable challenge, given the high mortality rate and associated mortality. Current recommendations are for treatment to be initiated within 24 hours of diagnosis.

Methods: In our study, we compared a cohort of 66 patients who received prompt microsurgical treatment within 6 hours of diagnosis with a cohort of 51 patients who received prompt microsurgical treatment within 12 hours of diagnosis.

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Background: Artificial intelligence (AI)-based chatbots have shown promise in providing counseling to patients with metabolic dysfunction-associated steatotic liver disease (MASLD). While ChatGPT3.5 has demonstrated the ability to comprehensively answer MASLD-related questions in English, its accuracy remains suboptimal.

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Aim: To report our institutional experience with full-endoscopic lumbar discectomy (FELD) and analyzed the pertinent literature.

Material And Methods: We retrospectively enrolled 100 patients who had undergone full-endoscopic discectomy for lumbar disc herniation using either an interlaminar (IL) or transforaminal (TF) approach. All patients underwent pre-operative imaging.

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Primary spinal cord diffuse gliomas (SpDG) are rare tumors that may harbor, like diffuse intrinsic pontine gliomas (DIPG), H3 mutations. According to the WHO (2021), SpDGs are included in diffuse midline H3K27-altered gliomas, which occur more frequently in adults and show unusual clinical presentation, neuroradiological features, and clinical behavior, which differ from H3 G34-mutant diffuse hemispheric glioma. Currently, homogeneous adult-only case series of SpDG, with complete data and adequate follow-up, are still lacking.

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Metabolic dysfunction-associated steatotic liver disease (MASLD), with its steadily increasing prevalence, represents now a major problem in public health. A proper referral could benefit from tools allowing more precise risk stratification. To this end, in recent decades, several genetic variants that may help predict and refine the risk of development and progression of MASLD have been investigated.

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Metabolic Dysfunction-Associated Steatotic Liver (MASL), previously named nonalcoholic fatty liver (NAFL), is a multifactorial disease in which metabolic, genetic, and environmental risk factors play a predominant role. Obesity and type 2 diabetes act as triggers of the inflammatory response, which contributes to the progression of MASL to Metabolic Dysfunction-Associated Steatohepatitis and the development of hepatocellular carcinoma. In the liver, several parenchymal, nonparenchymal, and immune cells maintain immunological homeostasis, and different regulatory pathways balance the activation of the innate and adaptative immune system.

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Importance: Metabolic dysfunction-associated steatotic liver disease (MASLD) is currently the most common chronic liver disease worldwide. It is important to develop noninvasive tests to assess the disease severity and prognosis.

Objective: To study the prognostic implications of baseline levels and dynamic changes of the vibration-controlled transient elastography (VCTE)-based scores developed for the diagnosis of advanced fibrosis (Agile 3+) and cirrhosis (Agile 4) in patients with MASLD.

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Background: ANGPTL3 (angiopoietin-like protein 3) is a circulating protein with a key role in maintaining lipoprotein homeostasis. A monoclonal antibody against ANGPTL3 is an approved and well-tolerated treatment to reduce lipoproteins in familial hypercholesterolemia homozygotes. However, the reduction of hepatic ANGPTL3 synthesis using an antisense oligonucleotide unexpectedly resulted in a dose-dependent increase in liver lipid content and circulating transaminases, resulting in the termination of the clinical trial.

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Objective: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a global health concern with no effective and specific drug treatment available. The rs2642438 minor allele in mitochondrial amidoxime-reducing component 1 (MARC1) results in an aminoacidic substitution (p.Ala165Thr) and associates with protection against MASLD.

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Article Synopsis
  • Fabry disease (FD) is a rare genetic disorder linked to strokes, and there's ongoing debate about when to test for it in stroke patients.
  • This study, part of the Fabry-Stroke Italian Registry, screened nearly 1,906 stroke patients for FD by checking alpha-galactosidase A activity and conducting genetic tests, identifying a small number of affected individuals.
  • The findings suggest that limiting FD screening only to cryptogenic strokes could miss a significant number of cases, highlighting the importance of recognizing clinical signs that may indicate the need for testing.
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  • This study investigates the prevalence of metabolic dysfunction associated steatotic liver disease (MASLD) and advanced fibrosis among relatives of patients with advanced MASLD, highlighting the condition's genetic aspects.
  • Results showed that 56.8% of relatives had MASLD, with 14.4% presenting advanced fibrosis, indicating a significant risk, especially linked to factors like body mass index and diabetes.
  • Despite some genetic risk variants being more common among affected individuals, they did not effectively enhance the screening process for advanced fibrosis in relatives, underscoring the need for family screening based on clinical guidelines.
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Objective: Hyperferritinaemia is associated with liver fibrosis severity in patients with metabolic dysfunction-associated steatotic liver disease (MASLD), but the longitudinal implications have not been thoroughly investigated. We assessed the role of serum ferritin in predicting long-term outcomes or death.

Design: We evaluated the relationship between baseline serum ferritin and longitudinal events in a multicentre cohort of 1342 patients.

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