Multi-omic markers of Intraductal Papillary Mucinous Neoplasms progression into pancreatic cancer.

Pancreatic ductal adenocarcinoma (PDAC) is the most lethal and common form of pancreatic cancer, it has no specific symptoms, and most of the patients are diagnosed when the disease is already at an advanced stage. Chemotherapy typically has only a modest effect, making surgery the most effective treatment option. However, only a small percentage of patients are amenable to surgery.

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

Generalizability of kidney and cardiovascular protection by finerenone to the real world in Italy: insights from Fidelio and Figaro studies.

Background: We evaluated the proportion of Type 2 diabetes (T2D) patients with chronic kidney disease (CKD) participating in the AMD (Association of Medical Diabetologists) Annals initiative who met the eligibility criteria for phase III-studies on finerenone, showing its renal and cardiovascular benefits.

Methods: This analysis involved all T2D patients seen in 2019 in 282 diabetes centers in Italy, for whom data on kidney function (estimated glomerular filtration rate and albuminuria) were available. Data are presented separately for different scenarios, covering the population with main eligibility criteria for inclusion in the FIDELIO-DKD and FIGARO-DKD trials.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

DNA methylation patterns of circadian and ultradian genes are altered in the peripheral blood of patients with hidradenitis suppurativa.

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition that affects hair follicles in areas with apocrine sweat glands, such as the underarms, groin, and buttocks. The pathogenesis of HS is not fully understood, but considering the key role played by the biological clock in the control of immune/inflammatory processes the derangement of circadian and ultradian pathways could be hypothesized.

Methods: We analyzed genome-wide DNA methylation patterns in peripheral blood from 24 HS cases and 24 controls using the Infinium HumanMethylation450 BeadChip array (Illumina), followed by bioinformatics and statistical analyses.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify Mutation Profiler.

Introduction: Personalized medicine has revolutionized the clinical management of patients with solid tumors. However, the large volumes of molecular data derived from next-generation sequencing (NGS) and the lack of harmonized bioinformatics pipelines drastically impact the clinical management of patients with solid tumors. A possible solution to streamline the molecular interpretation and reporting of NGS data would be to adopt automated data analysis software.

SARS-CoV-2 and Environmental Changes: The Perfect Storm.

The COVID-19 pandemic has had a significant impact on the global economy. It also provided insights into how the looming global climate crisis might be addressed, as there are several similarities between the challenges proposed by COVID-19 and those expected from the coming climate emergency. COVID-19 is an immediate health threat, but climate change represents a more gradual and insidious risk that will lead to long-term consequences for human health.

Detecting BRAF mutations in colorectal cancer in clinical practice: An Italian experts' position paper.

BRAF p.V600E exon 15 hotspot mutation can identify a molecular subgroup of metastatic colorectal cancer (mCRC) patients exhibiting poor prognosis under the conventional chemotherapy regimen. Recently, the chemotherapy-free combination of encorafenib and cetuximab has been approved as the standard of care for previously treated BRAF p.

SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.

Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) convened an expert panel of professional healthcare practitioners to provide up-to-date knowledge about the pathophysiology, clinical presentation and treatment of WFS, and recommendations for the earlydetection and optimal disease management.

Extracellular Histones Profiles of Pediatric H3K27-Altered Diffuse Midline Glioma.

Background: Diffuse midline glioma, H3 K27-altered (DMG) is a fatal tumour that arises in the midline structures of the brain. When located in the pons, it is more commonly referred to as diffuse intrinsic pontine glioma (DIPG). DMG/DIPG is usually diagnosed when children are < 10 years, and it has a median overall survival of < 12 months after diagnosis.

Blood Loss in Women of Childbearing Potential Taking Oral Anticoagulants for Venous Thromboembolism (The BLEED Study).

Background:  Oral anticoagulants (OAC) may exacerbate menstrual bleeding in women of childbearing age; however, the existing literature on this issue has several limitations.

Materials And Methods:  This study investigates abnormal uterine bleeding in women of childbearing age taking OAC-vitamin K antagonists or direct oral anticoagulants-for venous thromboembolism through a retrospective analysis of prospectively collected data. Uterine bleeding was assessed using the Pictorial Blood Assessment Chart (PBAC) and hemoglobin (Hb) values during anticoagulation compared with prior therapy.

When Does Metabolic Memory Start? Insights From the Association of Medical Diabetologists Annals Initiative on Stringent HbA1c Targets.

Early, intensive glycemic control in patients with type 2 diabetes (T2D) is associated with long-term benefits in cardiovascular disease (CVD) development. Evidence on benefits of achieving HbA1c targets close to normal values is scant. Individuals with newly diagnosed T2D, without CVD at baseline, were identified in an Italian clinical registry (n = 251,339).

Areas of uncertainty on the diagnosis, treatment, and follow-up of hypophosphatemia in adults: an Italian Delphi consensus.

Purpose: The study aimed to present the results of a Delphi consensus involving Italian experts focusing on the management of hypophosphatemia in adults.

Methods: A multidisciplinary advisory board of nine physicians, experts in hypophosphatemia management, was established. Next, a literature search was performed to identify international guidelines, consensus, and clinical pathways, which were later presented to the advisory board.

[Registers as central real world data source: the experience of the Italian Multiple Sclerosis and Related Disorders Register].

Registers collecting data from clinical practice (real world data) have gained increasing interest in recent years in the scientific, administrative, and regulatory fields. The value of longitudinal data collection in deepening knowledge about a specific pathology and its healthcare complexity is increasingly recognized. This article describes the development, organizational structure, and technical characteristics of the Italian Multiple Sclerosis and Related Disorders Register (RISM).

Polymorphisms within autophagy-related genes as susceptibility biomarkers for pancreatic cancer: A meta-analysis of three large European cohorts and functional characterization.

Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers with patients having unresectable or metastatic disease at diagnosis, with poor prognosis and very short survival. Given that genetic variation within autophagy-related genes influences autophagic flux and susceptibility to solid cancers, we decided to investigate whether 55,583 single nucleotide polymorphisms (SNPs) within 234 autophagy-related genes could influence the risk of developing PDAC in three large independent cohorts of European ancestry including 12,754 PDAC cases and 324,926 controls. The meta-analysis of these populations identified, for the first time, the association of the BID variant with an increased risk of developing the disease (OR = 1.