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.

-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.

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).

[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.

How histopathological diagnosis interacts with kidney ultrasound parameters and glomerular filtration rate.

The evaluation of estimated GFR (eGFR) is a pivotal staging step in patients with chronic kidney disease (CKD), and renal ultrasound plays an important role in diagnosis, prognosis and progression of CKD. The interaction between histopathological diagnosis and ultrasound parameters in eGFR determination has not been fully investigated yet. The study examined the results of native kidney biopsies performed in 48 Italian centers between 2012 and 2020.

Current status and new avenues of stem cell-based preclinical and therapeutic approaches in amyotrophic lateral sclerosis.

Introduction: Cell therapy development represents a critical challenge in amyotrophic lateral sclerosis (ALS) research. Despite more than 20 years of basic and clinical research, no definitive safety and efficacy results of cell-based therapies for ALS have been published.

Areas Covered: This review summarizes advances using stem cells (SCs) in pre-clinical studies to promote clinical translation and in clinical trials to treat ALS.

Prognostic value of type of prior TKI in pretreated metastatic renal cell carcinoma patients receiving nivolumab.

To define the prognostic significance of first-line TKI in mRCC patients receiving nivolumab. A total of 571 mRCC patients who received ≥second line nivolumab were included in this subanalysis. The correlation between prior TKI (sunitinib vs.