Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.

In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues.

Clove Essential Oil as a Source of Antitumoral Compounds Capable of Crossing the Blood-Brain Barrier: A Focus on the Effects of β-Caryophyllene and Eugenol in a Glioblastoma Cell Line.

This study aimed to investigate β-Caryophyllene (BCA) pharmacokinetics as well as the potential antitumor activity and mechanism of action of BCA and eugenol (EU), alone or in combination, in U87 glioblastoma (GB) cells. The BCA pharmacokinetic was studied by evaluating its concentration profiles in rat blood and cerebrospinal fluid after oral and intravenous administration. EU and BCA antitumor mechanisms were assessed by comparing their effects in U87 GB cells and non-tumoral HMC3 cells.

Chronic obstructive pulmonary disease: A narrative synthesis of its hallmarks for palliative care clinicians.

Chronic obstructive pulmonary disease (COPD) is a life-limiting condition and the third leading cause of death worldwide. People with COPD experience physical and psychological symptoms and functional limitations that impair their quality of life. Their caregivers face adverse clinical outcomes due to personal, social, and financial demands.

Real-world effectiveness and safety of bulevirtide monotherapy for up to 96 weeks in patients with HDV-related cirrhosis.

Background And Aims: Bulevirtide (BLV) 2 mg/day is EMA approved for treatment of compensated chronic hepatitis due to Delta virus (HDV) infection, however real-life data in large cohorts of patients with cirrhosis are lacking.

Methods: Consecutive HDV-infected patients with cirrhosis starting BLV 2 mg/day since September 2019 were included in a European retrospective multicenter real-life study (SAVE-D). Patient characteristics before and during BLV treatment were collected.

Infections Management in the Lung Transplant Setting in Italy: A Web-Survey.

Introduction: Infections significantly impact morbidity and mortality in lung transplant (LuTx) recipients. This survey focused on documenting current practices regarding the prevention and management of infections in LuTx in Italy.

Methods: A 52-question survey was administered online in the period from December 1, 2023, to January 31, 2024, assessing center characteristics, Tx team organization, microbiological investigations, infection prevention, and management.

Knowledge, Barriers, and Future Directions of Vestibular Rehabilitation Practice in Neurorehabilitation: An Italian Survey.

Vestibular rehabilitation, an evidence-based physical therapy approach, plays a crucial role in managing and recovering from gaze and balance disorders, including those of central origin. This study, targeted at the community of Italian healthcare practitioners, is vital in understanding the application of vestibular rehabilitation in neurological disorders and in identifying knowledge gaps, barriers, and future directions. This is a cross-sectional study directed at healthcare professionals involved in neurorehabilitation in Italy.

Wounds resulting from intradermal injection of sodium hypochlorite: a case report.

Background: Caustic substances can inflict severe damage on tissues upon contact. Knowledge about skin damage caused by sodium hypochlorite is quite limited, with only a few reports available in the literature.

Case Report: A 79-year-old female with severe cognitive decline presented with multiple skin ulcerations that were covered by a blackish-greyish eschar and surrounded by a purple erythematous halo.

Risk of cancer and reoperation after ileorectal anastomosis and ileal pouch-anal anastomosis in familial adenomatous polyposis.

Objectives: To prevent colorectal cancer (CRC), most patients with familial adenomatous polyposis (FAP) undergo (procto)colectomy with ileorectal anastomosis (IRA) or ileal pouch-anal anastomosis (IPAA). After surgery, these patients remain at risk of developing cancer in the remnant rectum or rectal cuff/pouch. We aimed to compare the long-term risk of cancer following IRA or IPAA in FAP.

Parapharyngeal space metastasis from squamous cell carcinoma: indications and limits of different surgical approaches.

Purpose Of Review: The aim of this review is to investigate the most suitable surgical approach to managing parapharyngeal space (PPS) squamous cell carcinoma (SCC) metastasis.

Recent Findings: SCC metastasis in PPS are extremely rare. The PPS itself is a complex anatomical area, requiring extensive surgical experience and various surgical approaches for effective management.

Tyrosine kinase inhibitor discontinuation in non-allografted Philadelphia-positive acute lymphoblastic leukemia patients: a Campus ALL real-life study.

Not available.

Blood neurofilament light chain and S100B as biomarkers of neurological involvement and functional prognosis in COVID-19: a multicenter study.

Background And Aim: COVID-19 is associated with neurological complications, termed neuro-COVID, affecting patient outcomes. We aimed to evaluate the association between serum neurofilament light chain (NfL) and S100B biomarkers with the presence of neurological manifestations and functional prognosis in COVID-19 patients.

Methods: A multicenter prospective cohort study was conducted in three hospitals in the Emilia-Romagna region, Italy, from March 2020 to April 2022.

Outcomes and prognostic indicators in daratumumab-refractory multiple myeloma: a multicenter real-world study of elotuzumab, pomalidomide, and dexamethasone in 247 patients.

Background: Daratumumab-refractory multiple myeloma (Dara-R MM) presents a significant treatment challenge. This study aimed to evaluate the efficacy and survival outcomes of elotuzumab, pomalidomide, and dexamethasone (EloPd) in a large, real-world cohort of patients with Dara-R MM, with particular focus on progression-free survival (PFS) and overall survival (OS).

Materials And Methods: This retrospective analysis included 247 Dara-R MM patients treated with EloPd.

Absence of Viral Replication Is Associated With Improved Outcome in Anti-HCV-Positive Patients With Hepatocellular Carcinoma.

Background And Aims: Presence of active hepatitis C virus (HCV) infection may influence the outcome of patients treated for hepatocellular carcinoma (HCC), although this issue has never been adequately assessed in a large series of patients. The aim of this study was to evaluate whether the presence of active HCV affects the survival of patients treated for HCC.

Methods: This study assessed the outcome of 3123 anti-HCV-positive patients with HCC, subdivided according to the presence of active HCV infection or previous sustained virological response (SVR).

High-resolution whole-genome DNA methylation revealed unique signatures of painful diabetic neuropathy.

The aim of this work was to describe the DNA methylation signature and to identify genes associated with neuropathic pain in type 2 diabetes mellitus. We analyzed two independent diabetic neuropathy cohorts: PROPGER consisting of 72 painful and 67 painless patients recruited at the German Diabetes Center in Düsseldorf (DE), and PROPENG comprising 27 painful and 65 painless diabetic neuropathy patients recruited at the University of Manchester (UK). Genome-wide methylation data was generated using Illumina Infinium Methylation EPIC v1.

Transapical coil embolization for subannular aortic pseudoaneurysm.

Aortic pseudoaneurysm is a rare but life-threatening complication following aortic surgery. Although surgical repair remains the gold standard for treatment, alternative approaches such as transcatheter strategies are increasingly considered viable options, particularly in patients with high surgical risk due to comorbidities, anatomical challenges or technical constraints. We present the case of a 72-year-old male patient who developed a subaortic pseudoaneurysm during radiological follow-up after a previous Bentall operation.

Safety and Efficacy of opioid-sparing Anesthesia Compared with Traditional opioid-anesthesia: A Scoping Review.

Objectives: The rationale of adoption opioid sparing anesthesia (OSA) is to achieve perioperative analgesia with a minimal amount of opioid combined to non-opioid adjuvants during and after surgery, namely multimodal anesthesia. The OSA approach was originally developed to overcome the known complications of opioid-based anesthesia (OA) and the present scoping review (ScR) aims at providing the clinical evidence of safety and efficacy of OSA with respect to OA.

Methods: This ScR is mainly focused on studies presenting evidence on the safety and efficacy of OSA versus OA.

Establishing minimal clinically important difference of modified dynamic gait index in people with subacute stroke.

Background: People with stroke (PwST) often have significant balance limitations, making it crucial to focus rehabilitation on improving mobility and reducing the risk of falls. The Modified Dynamic Gait Index (MDGI) is recommended for measuring balance in various neurological conditions, but a minimal clinically important difference (MCID) score specific to PwST is missing.

Objectives: To calculate the MCID of the MDGI in PwST during the subacute phase.

Demographic-Based Personalized Left Ventricular Hypertrophy Thresholds for Hypertrophic Cardiomyopathy Diagnosis.

Background: Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death. Current diagnosis emphasizes the detection of left ventricular hypertrophy (LVH) using a fixed threshold of ≥15-mm maximum wall thickness (MWT). This study proposes a method that considers individual demographics to adjust LVH thresholds as an alternative to a 1-size-fits-all approach.

Epigenetic Drift Is Involved in the Efficacy of HBV Vaccination.

: HBV infections can lead to serious liver complications that can have fatal consequences. In 2022, around 1.1 million individuals died from HBV-related cirrhosis and hepatocellular carcinoma.

Palmitoylethanolamide in Postmenopausal Metabolic Syndrome: Current Evidence and Clinical Perspectives.

Menopause leads to a decline in estrogen levels, resulting in significant metabolic alterations that increase the risk of developing metabolic syndrome-a cluster of conditions including central obesity, insulin resistance, dyslipidemia, and hypertension. Traditional interventions such as hormone replacement therapy carry potential adverse effects, and lifestyle modifications alone may not suffice for all women. This review explores the potential role of palmitoylethanolamide (PEA), an endogenous fatty acid amide, in managing metabolic syndrome during the postmenopausal period.

Emerging Signatures of Hematological Malignancies from Gene Expression and Transcription Factor-Gene Regulations.

Hematological malignancies are a diverse group of cancers developing in the peripheral blood, the bone marrow or the lymphatic system. Due to their heterogeneity, the identification of novel and advanced molecular signatures is essential for enhancing their characterization and facilitate its translation to new pharmaceutical solutions and eventually to clinical applications. In this study, we collected publicly available microarray data for more than five thousand subjects, across thirteen hematological malignancies.

Endothelial Dysfunction: Molecular Mechanisms and Therapeutic Strategies in Kawasaki Disease.

The endothelium plays a key role in regulating vascular homeostasis by responding to a large spectrum of chemical and physical stimuli. Vasculitis is a group of inflammatory conditions affecting the vascular bed, and it is known that they are strongly linked to endothelial dysfunction (ED). Kawasaki disease (KD) is one childhood systemic vasculitis, and it represents the leading cause of acquired cardiac disease in children due to coronary damage and subsequent cardiovascular (CV) morbidity and mortality.