Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato-rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy.

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.

Ga-PSMA PET/CT in Recurrent Prostate Cancer after Radical Prostatectomy Using PSMA-RADS Version 2.0.

Background: Ga-PSMA PET/CT is superior to standard-of-care imaging for detecting regional and distant metastatic recurrent prostate cancer. The objective of our study was to evaluate the performance of Ga-PSMAPET/CT in our patient population, using the new PSMA-RADS version 2.0.

Large retroperitoneal sarcoma invading the inferior vena cava successfully resected. Technical notes of two cases.

Retroperitoneal sarcomas are rare neoplasms . They frequently reach a very large size and invade adjacent organs before they are detected. Involvent of the inferior vena cava is uncommon.

Nebulization of pharmacological solutions with an innovative medical device based on microvaporization.

The currently available nebulization devices have a slow aerosol flow and produce vapor with large microdrops. Improved devices that achieve higher airflow and produce smaller microdrops are needed to improve the clinical care of patients. To address this critical need, we developed a novel system for the molecular vaporization of liquids.

Imaging of primary retroperitoneal neoplasms.

Retroperitoneal soft tissue tumors are frequently incidental findings on imaging tests as Computed tomography (CT) or Magnetic Resonance Imaging (MRI). Retroperitoneal soft tissue tumors are rare and therefore not common in daily radiological practice. Clinician and radiologist'skills to set retroperitoneal soft tissue tumors at presentation is crucial for a correct patient management.

PET/CT in congenital hyperinsulinism: transforming patient's lives by molecular hybrid imaging.

Congenital hyperinsulinism (HI) is a life-threatening condition characterized by severe and recurrent episodes of hypoglycaemia due to defects in key genes involved in regulating insulin secretion. The delay in diagnosis and inappropriate management of HI lead to high risk of permanent hypoglycemic brain injury. The management of HI is challenging as each form of HI (focal, diffuse, and atypical) requires its own therapeutic strategy.

Minimal Clinically Important Difference and Patient Acceptable Symptom State for the Pittsburgh Sleep Quality Index in Patients Who Underwent Rotator Cuff Tear Repair.

The Pittsburgh Sleep Quality Index (PSQI) is a valid patient-reported outcome measure developed to assess sleep quality and disturbances in clinical populations. This study aimed to calculate the minimum clinically important difference (MCID) and the patient acceptable symptom state (PASS) for the PSQI in patients who underwent rotator cuff repair (RCR). Preoperative and six-month postoperative follow-up questionnaires were completed by 50 patients (25 males and 25 females, mean age 58.

Clinical application of F-DOPA PET/TC in pediatric patients.

The use F-DOPA PET/CT for oncologic and non-oncologic pediatric diseases is well consolidated in clinical practice. The indications include brain tumors, neuroendocrine malignancies and congenital hyperinsulinism. The number of papers involving pediatric subjects is steadily growing.

Arthroscopic Rotator Cuff Repair Improves Sleep Disturbance and Quality of Life: A Prospective Study.

Sleep disturbances are very common in patients with rotator cuff injury. Improvement of sleep quality in these patients can be considered a significant factor for healing in conjunction with surgery. The primary objective of this prospective study was to evaluate changes in sleep quality after surgery in patients with rotator cuff repair by analyzing the PSQI (Pittsburgh Sleep Quality Index) score.

Seminal Vesicle Urinary Reflux After TURP Mimicking Vesicular Invasion From Prostate Cancer on 18F-Choline PET/CT.

Seminal vesicles are paired secretory glands located posterior to the bladder in men that produce seminal fluid to maintain sperm. Seminal vesicle reflux into the prostatic ducts may be associated with prostatitis in older patients or may represent a very rare complication of transurethral prostate resection in patients with prostatic cancer. This condition is frequently accidentally diagnosed on excretory urography and/or retrograde urethrogram.

PET/CT in pediatric oncology.

The use of PET/CT in adult oncology has been consolidated by several and authoritative multicentric studies, metanalyses and systematic reviews. International guidelines help everyday nuclear medicine specialists, oncologists and radiologists in choosing the most suitable diagnostic path for each patient. Classifications based on traditional imaging and PET/CT findings define the most appropriate treatment and can predict the outcome for different types of malignancies.

Differences between computed tomoghaphy and surgical findings in acute complicated diverticulitis.

Background/objective: A preoperative reliable classification system between clinical and computed tomography (CT) findings to better plan surgery in acute complicated diverticulitis (ACD) is lacking. We studied the inter-observer agreement of CT scan data and their concordance with the preoperative clinical findings and the adherence with the intraoperative status using a new classification of diverticular disease (CDD).

Methods: 152 patients operated on for acute complicated diverticulitis (ACD) were retrospectively enrolled.

Enteroscopy in children.

Introduction: Device-assisted enteroscopy is a new endoscopic technique for the evaluation of small bowel in adults and children. Data in pediatric population are limited. This review aims to identify diagnostic and therapeutic benefits of enteroscopy in children.

MR Enterography in paediatric patients with obscure gastrointestinal bleeding.

Objectives: To evaluate the performance of Magnetic Resonance enterography (MRE) in the diagnostic work-up of children presenting with obscure gastrointestinal bleeding (OGIB).

Materials And Methods: From January 2014 to January 2016, a single-centre prospective study was performed on all children between 0 and 16 years of age referred to the radiology department for OGIB. Each child underwent MRE examination after negative oesophagogastroduodenoscopy and ileocolonoscopy.

Magnetic resonance imaging of epiploic appendagitis in children.

In children, epiploic appendagitis has been seldom reported. We describe two children with clinical presentations mimicking appendicitis. A correct diagnosis was eventually achieved by magnetic resonance imaging (MRI) and confirmed at laparoscopy in the initial case.

Current tecniques and new perpectives research of magnetic resonance enterography in pediatric Crohn's disease.

Crohn's disease affects more than 500000 individuals in the United States, and about 25% of cases are diagnosed during the pediatric period. Imaging of the bowel has undergone dramatic changes in the past two decades. The endoscopy with biopsy is generally considered the diagnostic reference standard, this combination can evaluates only the mucosa, not inflammation or fibrosis in the mucosa.

Diagnosis of Small-Bowel Diseases: Prospective Comparison of Multi-Detector Row CT Enterography with MR Enterography.

Purpose: To prospectively compare the accuracies of computed tomographic (CT) enterography and magnetic resonance (MR) enterography for the detection and characterization of small-bowel diseases.

Materials And Methods: The institutional review board approved the study protocol, and informed consent was obtained from all participants. From June 2009 to July 2013, 150 consecutive patients (81 men and 69 women; mean age, 38.

Colon capsule endoscopy compared with other modalities in the evaluation of pediatric Crohn's disease of the small bowel and colon.

Background And Aims: Data on colon capsule endoscopy (CCE) in evaluating the small bowel and colon concurrently are rare. This study aimed to evaluate the accuracy of CCE in assessing disease activity of the small bowel and colon in pediatric Crohn's disease (CD) by comparison with magnetic resonance enterography (MRE), small-intestine contrast US (SICUS), and ileocolonoscopy.

Methods: We prospectively enrolled 40 consecutive patients (22 male, 18 female, mean age 13.

Small bowel imaging of inflammatory bowel disease.

The study of the small bowel (SB) has always been challenging both for clinicians and radiologist. It is a long and tortuous tube that can be affected by various pathologies whose signs and symptoms are usually non specific and can mimic other acute abdominal disorders. For these reasons, imaging plays a central role in the diagnosis of the different pathological conditions that can occur.

Errors in imaging the pregnant patient with acute abdomen.

Pregnant women with an acute abdomen present a critical issue due to the necessity for an immediate diagnosis and treatment; in fact, a diagnostic delay could worsen the outcome for both the mother and the fetus. There is evidence that emergencies during pregnancy are subject to mismanagement; however, the percentage of errors in the diagnosis of emergencies in pregnancy has not been studied in depth. The purpose of this article is to review the most common imaging error emergencies.

Use of Imaging Techniques in Inflammatory Bowel Diseases That Minimize Radiation Exposure.

The use of imaging in the management of inflammatory bowel disease (IBD) has grown exponentially in the last few years. This has raised concerns about the risk of high cumulative level of radiation exposure from medical imaging in IBD patients during their lifetime, especially when the disease begins in pediatric age. Physicians caring for IBD children should be aware of the malignant potential of ionizing radiation and of the availability of alternative radiation-free techniques such as magnetic resonance imaging (MRI) and ultrasonography (US), in order to use them whenever possible.