Search results for "DIAGNOSI"

Congenital undifferentiated sarcoma associated to BCOR-CCNB3 gene fusion

2017

Small round cell sarcomas are aggressive bone and soft tissue tumors that predominantly affect children and young adults. A new group of sarcomas with a recurrent BCOR-CCNB3 gene fusion has been recently identified in previously unclassifiable small round cell sarcomas. BCOR-CCNB3 sarcomas share clinical and pathologic similarities with Ewing sarcoma, but show a stronger male predilection and less aggressiveness, as well as distinct gene expression profiling and pangenomic SNP array analyses. We report the unusual case of a congenital BCOR-CCNB3 retroperitoneal sarcoma in a female born at 34th gestational week, which was diagnosed in necropsy after 21hours of life. Immunohistochemical analy…

Should Vanishing Twin Pregnancies Be Systematically Excluded From Cell-Free Fetal DNA Testing?

2020

Objective To demonstrate the feasibility of cell-free DNA (cfDNA) testing in vanishing twin (VT) pregnancies in routine clinical practice. Methods Our study included 24 874 singleton and 206 VT consecutive pregnancies. Cell-free DNA was analyzed by massively parallel sequencing. Both aneuploidy analysis (chromosomes 13,18, 21, X, and Y) and fetal fraction estimation were performed according to an Illumina algorithm. Contaminant DNA contribution from the demised co-twin was studied in detail. Results VT pregnancies exhibited a higher prevalence of screen-positive cases (5.8% vs 2.5%), sex discrepancies (10.2% vs 0.05%), and false positive rates (FPR) (2.6% vs 0.3%) than singleton pregnancies…

The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study

2018

Study question Has PGD-HLA been successful relative to diagnostic and clinical efficacy? Summary answer The diagnostic efficacy of PGD-HLA protocols was found lower in this study in comparison to published PGD-HLA protocols and to that reported for general PGD by ESHRE (78.5 vs 94.1% and vs 92.6%, respectively), while the clinical efficacy has proven very difficult to assess due to inadequate follow-up of both the ART/PGD and HSCT procedure outcomes. What is known already The first clinical cases for PGD-HLA were reported in 2001. It is now a well-established procedure, with an increasing number of cycles performed every year. However, PGD-HLA is still offered by relatively few PGD centres,…

Association between condylar asymmetry and temporo- mandibular disorders using 3D-CT

2011

Objectives: Using reconstructed three-dimensional computed tomography (3D-CT) models, the purpose of this study was to analyze and compare mandibular condyle morphology in patients with and without temporomandibular disorder (TMD). Study Design: Thirty-two patients were divided into two groups: the first comprised those with TMD (n=18), and the second those who did not have TMD (n=14). A CT of each patient was obtained and reconstructed as a 3D model. The 64 resulting 3D condylar models were evaluated for possible TMD-associated length, width and height asymmetries of the condylar process. Descriptive statistics were used to assess the results and student’s t tests applied to compare the tw…

Human immunodeficiency virus infection mimics autoimmune hepatitis--a case report.

1988

Interferon-Beta Therapy of Multiple Sclerosis Patients Improves the Responsiveness of T Cells for Immune Suppression by Regulatory T Cells

2015

Multiple sclerosis (MS) is an inflammatory autoimmune disease characterized by imbalanced immune regulatory networks, and MS patient-derived T effector cells are inefficiently suppressed through regulatory T cells (Treg), a phenomenon known as Treg resistance. In the current study we investigated T cell function in MS patients before and after interferon-beta therapy. We compared cytokine profile, responsiveness for Treg-mediated suppression ex vivo and evaluated reactivity of T cells in vivo using a humanized mouse model. We found that CD4+ and CD8+ T cells of therapy-naive MS patients were resistant to Treg-mediated suppression. Treg resistance is associated with an augmented IL-6 product…

FOCAL ACTIVE COLITIS AS A PREDICTOR OF INFLAMMATORY BOWEL DISEASE: RESULTS FROM A SINGLE-CENTER EXPERIENCE.

2017

The term focal active colitis (FAC) is conventionally used to describe the presence of isolated cryptitis, characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. To date, only four studies, including one conducted in a pediatric population, have been performed to evaluate the clinical significance of this disease. The aim of this retrospective study on prospectively-collected data is to evaluate the clinical implications of the focal active colitis, since there still remains …

Clinical-anamnestic and instrumental data in outpatients suffering from venous disease

1995

The authors studied 200 consecutive outpatients with symptoms due to venous disease of the lower limbs. All the patients underwent anamnestic, clinical and instrumental evaluation (c.w. Doppler velocimetry and strain-gauge plethysmography). The results of this study showed that some anamnestic and clinical data are significantly related to venous disease detected by instrumental techniques. The superficial and deep vein hypertension were, instead, correlated to oral contraceptive use.

Prevalence and distribution of oral mucosal non-malignant lesions in the western Sicilian population.

2016

BACKGROUNG: The aim of the present study was to determine the prevalence of oral mucosal non-malignant lesions in the Sicilian population. In addition, we evaluated the association between each oral lesion and its risk factors. METHODS: This study analyzed a total of 2539 consecutive patients, attending the Department of Surgical, Oncological and Stomatological Disciplines of Palermo University, who were examined for the presence of various oral lesions during the period from January 2012 and February 2015. RESULTS: The sample consisted of 1330 (52%) female and 1209 (48%) male. The age ranged from 13-86 years with a mean age of 47.16 years. Among these subjects 1495 (58%), presented one or …

Diagnostic performance of 2D-shear wave elastography in the diagnosis of breast cancer: a clinical appraisal of cutoff values

2022

Purpose To assess the role of 2D-shear wave elastography (2D-SWE) in differentiating benign from malignant focal breast lesions (FBLs), providing new vendor-specific cutoff values. Methods 158 FBLs (size: 3.5-50 mm) detected in 151 women (age: 21-87 years) were prospectively evaluated by means 2D-SWE. For each lesion, an expert radiologist assessed US BI-RADS category and calculated the following four 2D-SWE parameters: (1) elasticity maximum (E-max); (2) mean elasticity (E-mean); (3) minimum elasticity (E-min); (4) elasticity ratio (E-ratio). US-guided core-biopsy was considered as standard of reference for all the FBLs classified as BI-RADS 4 or 5. For each 2D-SWE parameter, the optimal c…