Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team.

Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD in a population of kidney recipients, with a particular focus of the multidisciplinary approach for an early clinical assessment and therapeutic approach.

FLAIRectomy in Supramarginal Resection of Glioblastoma Correlates With Clinical Outcome and Survival Analysis: A Prospective, Single Institution, Case Series.

Background: Extent of tumor resection (EOTR) in glioblastoma surgery plays an important role in improving survival.

Objective: To analyze the efficacy, safety and reliability of fluid-attenuated inversion-recovery (FLAIR) magnetic resonance (MR) images used to guide glioblastoma resection (FLAIRectomy) and to volumetrically measure postoperative EOTR, which was correlated with clinical outcome and survival.

Methods: A total of 68 glioblastoma patients (29 males, mean age 65.

Perinatal Femoral Fracture: A Ten-Year Observational Case Series Study.

Background: perinatal femoral fractures (PFF) are relative rare birth-related fractures. Among treatment options, Bryant traction reported satisfactory outcomes in PFF of children under 3 years of age. The aim of this study is to assess the risk factors, diagnosis, management, and outcome in the 10-year multicentric experiences of all newborns treated for PFF in Catania city hospitals.

Cardiovascular magnetic resonance (CMR) in restrictive cardiomyopathies.

The restrictive cardiomyopathies constitute a heterogeneous group of myocardial diseases with a different pathogenesis and overlapping clinical presentations. Diagnosing them frequently poses a challenge. Echocardiography, electrocardiograms and laboratory tests may show non-specific changes.

COVID-19-Induced Thrombosis in Patients without Gastrointestinal Symptoms and Elevated Fecal Calprotectin: Hypothesis Regarding Mechanism of Intestinal Damage Associated with COVID-19.

Background: Patients with coronavirus infectious disease 2019 (COVID-19) and gastrointestinal symptoms showed increased values of fecal calprotectin (FC). Additionally, bowel abnormalities were a common finding during abdominal imaging of individuals with COVID-19 despite being asymptomatic. The current pilot study aims at evaluating FC concentrations in patients without gastrointestinal symptoms.

A novel GABRB3 variant in Dravet syndrome: Case report and literature review.

Background: Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS), myoclonic-atonic epilepsy (MAE), and others.

Methods And Results: We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next-generation sequencing (NGS)-based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.

Celiac disease and headache in children: a narrative state of the art.

Celiac disease (CD) is one of the most important entity of the wide spectrum of gluten-related disorders (GRDs). It is well known that neurological manifestation can be present either at the onset of CD, or appear during the development of the pathology, and different can be the neurologic findings. Clinical features are very variable, ranging from typical manifestations of gastrointestinal involvement to neurologic symptom.

Giant hepatic hemangioma case report: When is it time for surgery?

We describe a case of a 30-year-old man who complained intermitted pain in right abdominal flank; a large cavernoumatos hemangioma - up to 6 cm in size - was revealed in the fifth hepatic segment using Ultrasonography and MRI (Magnetic Resonance Imaging). Indications for treatment - based on imaging features and clinical data - are briefly discussed in our report, providing also a review of existing literature.

The Model for Early COvid-19 Recognition (MECOR) Score: A Proof-of-Concept for a Simple and Low-Cost Tool to Recognize a Possible Viral Etiology in Community-Acquired Pneumonia Patients during COVID-19 Outbreak.

This study aims to assess the peripheral blood cell count "signature" of Severe Acute Respiratory Syndrome-Coronavirus 2 (SARS-CoV-2) to discriminate promptly between COronaVIrus Disease 19 (COVID-19) and community-acquired pneumonia (CAP). We designed a retrospective case-control study, enrolling 525 patients (283 COVID-19 and 242 with CAP). All patients had a fever and at least one of the following signs: cough, chest pain, or dyspnea.

Tailoring haemophilia A prophylaxis with BAY 81-8973: A case series.

BAY 81-8973 is an unmodified, full-length third generation recombinant factor VIII (rFVIII) which offers a more favorable pharmacokinetic (PK) profile, compared to its predecessor sucrose-formulated rFVIII (rFVIII-FS). We here report on a retrospective case series of nine patients affected by hemophilia A (HA), with variable disease severity, bleeding phenotype and comorbidities, to underline our clinical practice on prophylaxis with a recently introduced standard hall-life recombinant Factor VIII. The current case series highlights how the current clinical management of hemophilia is able to personalize treatment in several specific conditions like concomitant illnesses with thrombotic risk and allergic reactions.

Multidisciplinary Approach to Interstitial Lung Diseases: Nothing Is Better than All of Us Together.

Interstitial Lung Diseases (ILDs) are a large family of disorders characterized by inflammation and/or fibrosis of areas of the lung dedicated to gas exchange. In this Special Issue entitled "Clinical and Radiological Features of Interstitial Lung Diseases", we collected a series of contributions in which a multidisciplinary approach was crucial for the correct diagnostic assessment of ILD. Sharing knowledge between different specialties can significantly improve diagnostic approaches and the management of ILD patients.

Severe Psychotic Symptoms in Youth with PANS/PANDAS: Case-Series.

To report a case series of children presenting with episodes of abrupt onset psychotic symptoms presumably linked to pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) and pediatric acute-onset neuropsychiatric syndrome (PANS). Children/adolescents were selected among the group of individuals affected by clinical diagnosis of PANDAS/PANS. One group was selected by affected individuals coming from the Center UMDNJ-New Jersey Medical School, New Jersey, USA and the other from the Department of Pediatrics Catania University, Italy.

Current Evidence on the Ocular Surface Microbiota and Related Diseases.

The ocular surface microbiota refers to the resident non-pathogenic microorganisms that colonize conjunctiva and cornea. Several studies have shown that ocular surface epithelial cells can respond selectively to specific components of ocular pathogenic bacteria by producing pro-inflammatory cytokines and, in contrast, they do not respond to non-pathogenic bacteria, thus supporting the colonization by a real microbiota. However, the analysis of the ocular microbiome composition is essential for understanding the pathophysiology of various ophthalmic diseases.

Complications in Idiopathic Pulmonary Fibrosis: Focus on Their Clinical and Radiological Features.

Idiopathic pulmonary fibrosis (IPF) is a fibrotic lung disease with uncertain origins and pathogenesis; it represents the most common interstitial lung disease (ILD), associated with a pathological pattern of usual interstitial pneumonitis (UIP). This disease has a poor prognosis, having the most lethal prognosis among ILDs. In fact, the progressive fibrosis related to IPF could lead to the development of complications, such as acute exacerbation, lung cancer, infections, pneumothorax and pulmonary hypertension.

Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.

Purpose: Malformations of cortical development (MCD) are a phenotypically and genetically heterogeneous group of disorders, for which the diagnostic rate of genetic testing in a clinical setting remains to be clarified. In this study we aimed to assess the diagnostic rate of germline and pathogenic variants using a custom panel in a heterogeneous group of subjects with MCD and explore genotype-phenotype correlations.

Methods: A total of 84 subjects with different MCD were enrolled.

Clinicoradiographic data and management of children with Chiari malformation type 1 and 1.5: an Italian case series.

Introduction: The widespread use of imaging has increased Chiari malformation (CM) diagnosis. CM shows clinical heterogeneity that makes management controversial. We aimed to evaluate the occurrence and clinical and radiographic presentation of children with CM-1 and CM-1.

Diffusion-Weighted Imaging in Oncology: An Update.

To date, diffusion weighted imaging (DWI) is included in routine magnetic resonance imaging (MRI) protocols for several cancers. The real additive role of DWI lies in the "functional" information obtained by probing the free diffusivity of water molecules into intra and inter-cellular spaces that in tumors mainly depend on cellularity. Although DWI has not gained much space in some oncologic scenarios, this non-invasive tool is routinely used in clinical practice and still remains a hot research topic: it has been tested in almost all cancers to differentiate malignant from benign lesions, to distinguish different malignant histotypes or tumor grades, to predict and/or assess treatment responses, and to identify residual or recurrent tumors in follow-up examinations.

Cystic Interstitial Lung Diseases: A Pictorial Review and a Practical Guide for the Radiologist.

A cyst is a round circumscribed area of low attenuation, surrounded by epithelial or fibrous wall. Cysts can frequently occur on chest computed tomography (CT) and high-resolution computed tomography (HRCT); multiple parenchymal cysts of the lungs are the most typical feature of cystic lung interstitial diseases, characterizing a wide spectrum of diseases-ranging from isolated lung disorders up to diffuse pulmonary diseases. The aim of this review is to analyze scientific literature about cystic lung interstitial diseases and to provide a practical guide for radiologists, focusing on the main morphological features of pulmonary cysts: size, shape, borders, wall, location, and distribution.

EAN guideline on palliative care of people with severe, progressive multiple sclerosis.

Background And Purpose: Patients with severe, progressive multiple sclerosis (MS) have complex physical and psychosocial needs, typically over several years. Few treatment options are available to prevent or delay further clinical worsening in this population. The objective was to develop an evidence-based clinical practice guideline for the palliative care of patients with severe, progressive MS.

EAN Guideline on Palliative Care of People with Severe, Progressive Multiple Sclerosis.

Patients with severe, progressive multiple sclerosis (MS) have complex physical and psychosocial needs, typically over several years. Few treatment options are available to prevent or delay further clinical worsening in this population. The objective was to develop an evidence-based clinical practice guideline for the palliative care of patients with severe, progressive MS.

Performance of Radiomics Features in the Quantification of Idiopathic Pulmonary Fibrosis from HRCT.

Background: Our study assesses the diagnostic value of different features extracted from high resolution computed tomography (HRCT) images of patients with idiopathic pulmonary fibrosis. These features are investigated over a range of HRCT lung volume measurements (in Hounsfield Units) for which no prior study has yet been published. In particular, we provide a comparison of their diagnostic value at different Hounsfield Unit (HU) thresholds, including corresponding pulmonary functional tests.

Spontaneous bleeding in systemic lupus erythematosus: Endovascular treatment of two rare cases.

Among the multiple clinical manifestations of systemic lupus erythematosus, spontaneous bleedings are rare but clinically important events. They could be potentially fatal, if not promptly treated. The appropriate diagnosis, followed by the timely treatment of these rare clinical presentations, is essential to prevent their lethal consequences.

Cryptogenic Organizing Pneumonia: Evolution of Morphological Patterns Assessed by HRCT.

To evaluate the radiological findings in patients with cryptogenic organizing pneumonia (COP) before steroid treatment and their behavior after therapy, we retrospectively evaluated a total of 22 patients with a diagnosis of COP made by bronchoalveolar lavage (BAL), biopsy or clinical/radiological features, and the patients were followed between 2014 and 2018 at the hospital; the demographic data, symptoms, radiologic findings, diagnostic methods and treatment plans of patients were collected from patients' hospital records. At least two CT scans of 22 patients (16 female and six men) were evaluated, the first one before starting steroid therapy and the others after therapy. At baseline CT scans, the most common radiological finding was the presence of consolidations (18/22 patients, 81.