Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study.

Evaluate the prevalence of genetic factors in a large population of infertile subjects and define the seminological, hormonal, and ultrasonographic features for each alteration. : This single-center retrospective study included male partners of infertile couples undergoing genetic investigations due to oligozoospermia or azoospermia evaluated from January 2012 to January 2022. The genetic investigations consist of karyotype, gene mutations plus variant of the IVS8-5T polymorphic trait, Y chromosome microdeletion, and Next Generation Sequencing panel to analyze genes implicated in congenital hypogonadotropic hypogonadism (CHH).

Radiomics in Oesogastric Cancer: Staging and Prediction of Preoperative Treatment Response: A Narrative Review and the Results of Personal Experience.

Background: Oesophageal, gastroesophageal, and gastric malignancies are often diagnosed at locally advanced stage and multimodal therapy is recommended to increase the chances of survival. However, given the significant variation in treatment response, there is a clear imperative to refine patient stratification. The aim of this narrative review was to explore the existing evidence and the potential of radiomics to improve staging and prediction of treatment response of oesogastric cancers.

The road to a world-unified approach to the management of patients with gastric intestinal metaplasia: a review of current guidelines.

Objective: During the last decade, the management of gastric intestinal metaplasia (GIM) has been addressed by several distinct international evidence-based guidelines. In this review, we aimed to synthesise these guidelines and provide clinicians with a global perspective of the current recommendations for managing patients with GIM, as well as highlight evidence gaps that need to be addressed with future research.

Design: We conducted a systematic review of the literature for guidelines and consensus statements published between January 2010 and February 2023 that address the diagnosis and management of GIM.

Combining Intravenous Thrombolysis and Dual Antiplatelet Treatment in Patients With Minor Ischemic Stroke: A Propensity Matched Analysis of the READAPT Study Cohort.

Background: The optimal treatment for acute minor ischemic stroke is still undefined. and options include dual antiplatelet treatment (DAPT), intravenous thrombolysis (IVT), or their combination. We aimed to investigate benefits and risks of combining IVT and DAPT versus DAPT alone in patients with MIS.

Symptomatic uncomplicated diverticular disease: a critical appraisal.

Introduction: Symptomatic uncomplicated diverticular disease (SUDD) is a clinical condition included in the spectrum of symptomatic diverticular disease. The symptom profile associated with SUDD is highly heterogeneous, as there are currently discordant definitions, that encompass many clinical scenarios.

Areas Covered: We conducted a narrative review to assess the symptom profile and diagnostic criteria of SUDD based on the available evidence.

Cardioneuroablation for the treatment of reflex syncope and functional bradyarrhythmias: A Scientific Statement of the European Heart Rhythm Association (EHRA) of the ESC, the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS) and the Latin American Heart Rhythm Society (LAHRS).

Cardioneuroablation has emerged as a potential alternative to cardiac pacing in selected cases with vasovagal reflex syncope, extrinsic vagally induced sinus bradycardia-arrest or atrioventricular block. The technique was first introduced decades ago, and its use has risen over the past decade. However, as with any intervention, proper patient selection and technique are a prerequisite for a safe and effective use of cardioneuroablation therapy.

The Role of the Autonomic Nervous System in Epilepsy and Migraine: A Narrative Review.

Autonomic symptoms may be local and general clinical manifestations of both epilepsy and migraine caused by the dysfunction of brain areas best known as the central autonomic network. Despite their prevalence, autonomic signs are often misdiagnosed and their treatment is undervalued. This review aims to describe the autonomic manifestations reported during seizures and migraineur attacks according to their presentation, focusing on the role of the central autonomic network (CAN) and on the parasympathetic outflow that often-induced cranial autonomic symptoms (CAS) during migraineur attacks.

A real-life experience with eculizumab and efgartigimod in generalized myasthenia gravis patients.

Introduction: Eculizumab, a complement active antibody, and efgartigimod, an Fc fragment that blocks neonatal Fc receptor, are both approved to treat generalized myasthenia gravis (gMG) patients. The objective of this study is to describe the clinical response to both treatments in a real-life setting.

Methods: We collected baseline and follow-up clinical data using the Myasthenia Gravis-Activities of Daily Living (MG-ADL), and Quantitative Myasthenia Gravis (QMG).

Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.

Introduction: CTNNB1 gene loss-of-function variants cause Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, OMIM 615075). Although motor impairment represents a core feature of this condition, the motor phenotype remains poorly described. We systematically assessed a cohort of 14 patients with disease-causing CTNNB1 variants to better characterize the movement disorder phenotype.

Upfront versus deferred cytoreductive nephrectomy following targeted or immunotherapy: a population-based propensity score-matched analysis of perioperative complications.

Purpose: To evaluate the incidence of postoperative complications after cytoreductive nephrectomy (CN) following first-line treatment for metastatic renal cell carcinoma (mRCC), and to compare it with postoperative complications of upfront CN.

Methods: For this population-based retrospective study, the PearlDiver Mariner database (PearlDiver Technologies, Colorado Springs, CO), a database of insurance billing records was analyzed. Using relevant ICD-9/10 and CPT codes, patients diagnosed with mRCC between 2011 and 2021, who received first-line systemic molecular therapy (SMT), either tyrosine kinase inhibitors (TKI) or immune-checkpoint inhibitors (ICI), were identified.

Physician-Modified Endografts for Repair of Complex Abdominal Aortic Aneurysms: Clinical Perspectives and Medico-Legal Profiles.

Standard endovascular aortic repair (EVAR) has become the standard of care for treating infrarenal abdominal aortic aneurysms (AAAs) in patients with favorable anatomies, while patients with challenging AAA anatomies, and those with suprarenal or thoraco-abdominal aneurysms, still need alternative, more complex, solutions, including custom-made branched or fenestrated grafts, which are constrained by production delay and costs. To address urgent needs and complex cases, physicians have proposed modifying standard endografts by manually creating graft fenestrations. This allows for effective aneurysm exclusion and satisfactory patency of visceral vessels.

Integrating the Idylla™ System Alongside a Real-Time Polymerase Chain Reaction and Next-Generation Sequencing for Investigating Gene Fusions in Pleural Effusions from Non-Small-Cell Lung Cancer Patients: A Pilot Study.

Malignant pleural effusion (MPE) from patients with advanced non-small-cell lung cancer (NSCLC) has been proven valuable for molecular analysis; however, simultaneous detection of driver fusions in MPE is still challenging. In this study, we investigated the Idylla™ GeneFusion Panel, a stand-alone test in tissue samples, in the evaluation of , , and ex14 skipping mutations in MPE and compared its performance with routine reference methods (Real-time-based and Next-generation Sequencing-NGS). The inclusion criteria for sample selection were as follows: advanced NSCLC harboring , , fusions or exon-skipping alterations and the availability of MPE collected at diagnosis or disease progression.

Sexual Function in Women Diagnosed with Hereditary Breast and Ovarian Cancer Syndrome.

Background: Hereditary breast and ovarian cancer syndrome (HBOC) predisposes women to an increased risk mainly of breast and tubo-ovarian cancer. The aim of the study is to investigate whether being diagnosed with HBOC syndrome is itself a risk factor for sexual dysfunction.

Methods: An ad hoc questionnaire, including baseline demographic and clinical data, and the Sexual Function Questionnaire 28 (SFQ28) were administered to HBOC female carriers (study group) and to a control group.

Coronary Artery Calcium and Aging: Physiological Basis, Assessment, and Treatment Options in Percutaneous Coronary Intervention.

Coronary artery calcification is a complex anatomical and histological pathology with different pathways that contribute to calcium deposit and calcification progression. As part of the atherosclerotic process, extensive calcifications are becoming more common and are associated with poorer PCI outcomes if not properly addressed. Since no drug has shown to be effective in changing this process once it is started, proper knowledge of the underlying pathogenesis and how to diagnose and manage it is essential in contemporary coronary intervention.

Muscle hypertrophy following acquired neurogenic injury: systematic review and analysis of existing literature.

Objectives: Neurogenic muscle hypertrophy (NMH) is a rare condition characterized by focal muscle hypertrophy caused by chronic partial nervous injury. Given its infrequency, underlying mechanisms remain poorly understood. Inspired by two clinical cases, we conducted a systematic review to gain insights into the different aspects of NMH.

Non-surgical management of acute proximal hamstring avulsions can produce clinically acceptable results.

Purpose: To evaluate the mid-term clinical outcomes for the non-surgical and surgical management of acute proximal hamstring avulsions.

Methods: Sixty physically active individuals were offered surgical or non-surgical management for their proximal hamstring avulsion injuries. Distal retraction was defined as greater than 2 cm.

The Multifaceted Complexity of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): A Case Report Highlighting Atypical Gastrointestinal Manifestations.

Background: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder stemming from mutations in the TNFRSF1A gene affecting the tumor necrosis factor receptor (TNFR)-1. These mutations lead to dysregulated inflammatory responses, primarily mediated by augmented interleukin (IL)-1β release.

Case Presentation: We present the case of a 29-year-old woman with a history of recurrent febrile episodes, abdominal pain, and joint manifestations, eventually diagnosed with TRAPS following genetic testing revealing a heterozygous R92Q mutation in TNFRSF1A.