Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome.

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in the literature. ATS affects medium and large size arteries, leading to widespread elongation and intensification of the average vessel tortuousness, responsible of several loops and kinks.

Clinical and Radiological Features of Interstitial Lung Diseases Associated with Polymyositis and Dermatomyositis.

Polymyositis and dermatomyositis are autoimmune idiopathic systemic inflammatory diseases, characterized by various degrees of muscle inflammation and typical cutaneous lesions-the latter found in dermatomyositis. The underlying pathogenesis is characterized by a high level of uncertainty, and recent studies suggest diseases may have different immunopathological mechanisms. In polymyositis, components of the cellular immune system are involved, whereas in dermatomyositis, the pathogenesis is mainly mediated by the humoral immune response.

Case report: Incidence and prognostic value of brain MRI lesions and elevated cerebrospinal fluid protein in children with Guillain-Barré syndrome.

Background: Guillain-Barrè syndrome (GBS) is an acute immune-mediated disorder affecting peripheral nerves and nerve roots with a variable clinical course and outcome. Epidemiologic analyses have revealed that the incidence of the syndrome increases linearly among the age. The clinical diagnosis of GBS is based on the family history, physical and neurological examination, electrodiagnostic exams, and cerebrospinal fluid analysis with the classical presence of albumin-cytologic dissociation.

A New 12q21 Deletion Syndrome: A Case Report and Literature Review.

Diagnosis in children with physical and intellective anomalies is very challenging because of the wide spectrum of causes. Array-based comparative genomic hybridization (CGH) has acquired an important role in pediatric diagnostic work up. Interstitial deletion of the long arm of chromosome 12 are rare.

Clinical and radiological features of lung disorders related to connective-tissue diseases: a pictorial essay.

Connective tissue diseases (CTDs) include a spectrum of disorders that affect the connective tissue of the human body; they include autoimmune disorders characterized by immune-mediated chronic inflammation and the development of fibrosis. Lung involvement can be misdiagnosed, since pulmonary alterations preceded osteo-articular manifestations only in 20% of cases and they have no clear clinical findings in the early phases. All pulmonary structures may be interested: pulmonary interstitium, airways, pleura and respiratory muscles.

Pulmonary Vasculitides: A Radiological Review Emphasizing Parenchymal HRCT Features.

Vasculitides represent a heterogeneous group of immune-mediated disorders, characterized by a systemic inflammatory destructive process of the blood vessels resulting either in ischemia or hemorrhage. The organ involved and vessel size influence the pattern of presentation of the pathology. The lung is commonly involved in systemic vasculitides, with heterogeneous clinical, radiological, and histopathological presentations.

Non traumatic intrathoracic liver herniation mimicking a pulmonary metastasis in patient with breast cancer: A case report.

Non-traumatic hepatic hernia is defined as hepatic protrusion through acquired or congenital defects on diaphragm without prior trauma. This event is rare among adults and infrequently reported in literature. 52-year-old Caucasian woman with surgically treated breast cancer with suspected lung metastasis detected during a routine Multidetector Computed Tomography lung exam.

Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved.

In children with developmental delay (DD) and neurologic impairment, diagnosis can be challenging because of the wide spectrum of causes. Since the last decade, the use of array comparative genomic hybridization (CGH) offered a great contribution to get a diagnosis in complex phenotypes. The chromosome 7 is subject of interest in medical genetics because of its frequent association with chromosome aberrations, rearrangements, and deletions involving clinical manifestations.

Superior mesenteric artery syndrome (Wilkie Syndrome) with unusual clinical onset: Description of a rare case.

Wilkie's Syndrome is a very rare disease caused by reduction of aorto-mesenteric space with consequent duodenum compression. It can combine with left renal vein stenosis which, when symptomatic, is known as "Nutcracker Syndrome". We describe a clinical onset case with epigastric pain without vomiting in a normal weight patient.

Three Cases of COVID-19 Pneumonia in Female Patients in Italy Who Had Pulmonary Fibrosis on Follow-Up Lung Computed Tomography Imaging.

BACKGROUND Since December 2019, an outbreak caused by a novel coronavirus infection (severe acute respiratory syndrome coronavirus 2, SARS-CoV-2) occurred in Wuhan, China, and it rapidly spread all over the world. The clinical spectrum of coronavirus disease 2019 (COVID-19) is wide, with acute respiratory distress syndrome (ARDS) occurring in 15% of patients affected, requiring high oxygen support. Currently, there is no clearly effective antiviral therapy.

Infectious disease ward admission positively influences P. jiroveci pneumonia (PjP) outcome: A retrospective analysis of 116 HIV-positive and HIV-negative immunocompromised patients.

P. jiroveci (Pj) causes a potentially fatal pneumonia in immunocompromised patients and the factors associated with a bad outcome are poorly understood. A retrospective analysis on Pj pneumonia (PjP) cases occurring in Tor Vergata University Hospital, Italy, during the period 2011-2015.

HMGA1 silencing reduces stemness and temozolomide resistance in glioblastoma stem cells.

Objective: Glioblastoma multiforme (GBM) develops from a small subpopulation of stem-like cells, which are endowed with the ability to self-renew, proliferate and give rise to progeny of multiple neuroepithelial lineages. These cells are resistant to conventional chemo- and radiotherapy and are hence also responsible for tumor recurrence. HMGA1 overexpression has been shown to correlate with proliferation, invasion, and angiogenesis of GBMs and to affect self-renewal of cancer stem cells from colon cancer.

Weaning from tracheostomy in subjects undergoing pulmonary rehabilitation.

Background: Weaning from tracheostomy has implications in management, quality of life, and costs of ventilated patients. Furthermore, endotracheal cannula removing needs further studies. Aim of this study was the validation of a protocol for weaning from tracheostomy and evaluation of predictor factors of decannulation.

Cachexia: clinical features when inflammation drives malnutrition.

Cachexia is a clinically relevant syndrome which impacts on quality of life, morbidity and mortality of patients suffering from acute and chronic diseases. The hallmark of cachexia is muscle loss, which is triggered by disease-associated inflammatory response. Cachexia is a continuum and therefore a staging system is needed.

A 6MWT index to predict O2 flow correcting exercise induced SpO2 desaturation in ILD.

Introduction: Ambulatory oxygen (O2) is prescribed to interstitial lung disease (ILD) patients with mild hypoxemia, breathlessness and dyspnea on exertion. Oxygen titration is generally done with the 6 minute walk test (6MWT) to determine the O2 flow preventing oxygen saturation by pulse oximetry (SpO2) from falling below 88%. His study was designed to generate a 6MWT index predicting the O2 flow allowing completion of the 6MWT without oxygen desaturation.

Timing of antioxidant supplementation is critical in improving anorexia in an experimental model of cancer.

Increased oxidative stress may contribute to cancer anorexia, which could be ameliorated by antioxidant supplementation. methylcholanthrene (MCA) sarcoma-bearing Fisher rats were studied. After tumour inoculation, rats were randomly assigned to standard diet (CTR group, n = 6), or to an antioxidant-enriched diet (AOX group, n = 8).