Search results for "Clinical evaluation"
showing 10 items of 43 documents
Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer
2018
Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV. Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CR…
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
2020
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogen…
Clinical evaluation of bempedoic acid for the treatment of hyperlipidaemia.
2021
Bempedoic acid (BA) is a novel first-in-class oral lipid-lowering therapy. BA has been approved by the European Medicinal Agency and Food and Drug Administration and has been commercialised throughout Europe since the end of 2020 as an add-on therapy in patients at high/very-high cardiovascular risk that are not at LDL-C goals with current lipid-lowering treatments. Recently, Italian lipid management experts gathered to discuss several open questions on BA characteristics and BArelated practical clinical issues. The panel permitted collection of its opinions in a ten Q&A format. Aim: The aim of this viewpoint is to discuss and answer several open questions on BA characteristics and BA-r…
A clinical evaluation of the DSM-5 criteria for Internet Gaming Disorder and a pilot study on their applicability to further Internet-related disorde…
2019
Background and aims Internet Gaming Disorder (IGD) and other Internet-related disorders (IRDs) have become growing health concerns in our today’s lives. Based on defined diagnostic criteria, IGD has been recognized as a condition for further research in the DSM-5; however, other IRDs have been excluded. Since the release of the DSM-5, representativeness and appropriateness of the nine diagnostic criteria have been debated. Although some first evidence has been published to evaluate these criteria, our knowledge is still limited. Thus, the purpose of this study was to provide data on the clinical validity of the DSM-5 criteria for IGD and other types of IRD. We were also interested in exami…
Clinical evaluation of pancreatitis-associated protein as a serum marker of hepatocellular carcinoma: Comparison with α-fetoprotein
1998
This study evaluated the significance of serum pancreatitis-associated protein (PAP) assay, as a marker of hepatocellular carcinoma (HCC), in comparison and combined with α-fetoprotein (AFP) assay. Sixty-five patients with HCC, 59 with liver cirrhosis (LC) and 68 asymptomatic controls (C) were studied. PAP and AFP values significantly increased from C to LC and HCC group (p < 0.0001). The area under receiver-operating characteristic (ROC) curve for the two markers was not statistically different. At 100% specificity, ROC analysis gave a cut-off level for AFP of 166 IU/l with 40% sensitivity, and a cut-off level of 240 µg/l for PAP with 23% sensitivity. Diagnostic accuracy of combined AFP…
Clinical evaluation of a modified marginal sulcular incision technique in endodontic surgery
2009
The authors evaluated periodontal parameters following apical surgery using a new marginal sulcular incision. In 65 cases, surgical access was achieved by means of a sulcular incision technique without the involvement of the adjacent periodontia and the interproximal papillae and in 33 cases by means of a submarginal trapezoidal technique. Periodontal parameters (probing pocket depth, gingival recession, clinical attachment loss, and tooth mobility [periotest]) were recorded at baseline and after 6 months. Scar formation and the loss of papilla height were evaluated photographically. No significant changes in the attachment level and no loss of papilla height were found in either group. A s…
The Value of Scoring Achalasia: A Comparison of Current Systems and the Impact on Treatment–The Surgeon's Viewpoint
2007
Heller myotomy in patients with achalasia promises better long-term success than pneumatic dilation, especially in younger patients, and therefore has evolved as the primary treatment option. The aim of this study was to evaluate the impact of different disease-specific severity scores on achalasia treatment. Fifty consecutive patients undergoing pneumatic dilation (n = 25) or myotomy (n = 25) were assessed pre- and postinterventionally by clinical evaluation using the Eckardt Score, the Vantrappen Classification, and the Adams's Stages, as well as by radiologic and manometric studies and by subjective evaluation. The Eckardt Score and the Vantrappen Classification correlated significantly…
Clinical evaluation of piezoelectric ear surgery
2008
We evaluated the use of piezoelectric surgery (Piezosurgery; Mectron Medical Technology; Carasco, Genoa, Italy) as a means of avoiding some complications of osteotomy and osteoplasty in otologic surgery, particularly in classic canal-wall-up mastoidectomy. Piezoelectric surgery is a recently developed system for cutting bone with microvibrations created by the piezoelectric effect. This effect occurs when an electric current is passed through certain ceramics and crystals, causing them to oscillate at ultrasonic frequencies. Our study population was made up of 20 adults with unilateral chronic otitis media. In all patients, piezoelectric surgery allowed for effective, precise, safe, easy, …
Computer assisted evaluation of retinal vessels tortuosity in Fabry disease.
2012
. Purpose: Fabry Disease (FD) is a rare X-linked metabolic disorder characterized by diffuse deposition of sphingolipids in many tissues. Retinal vessel tortuosity is a common ocular manifestation in FD and may represent a useful marker for the disease. Unfortunately its clinical evaluation is poorly reproducibile and alternative means of evaluation may be of interest. We tested a new semi-automatic software measuring retinal vessel tortuosity from eye fundus digital images in a group of FD patients. Methods: Observational case-control study evaluating four mathematical parameters describing tortuosity (relative length, sum of angle metric [SOAM], product of angle distance [PAD], triangul…
Intraoperative assessment of liver organ condition by the procurement surgeon.
2007
Abstract Generally the transplanting surgeon accepts or declines the offer of a marginal organ in view of all available information. Hence, in some cases it is the procurement surgeon who decides about the suitability for potential further liver transplantation. Methods From January 1, 2003 to September 30, 2005, a total of 402 organ procurement operations were performed in our region. Results Due to infrastructural problems in nine cases intraoperative evaluation of liver biopsies was not achievable in time, and the decision to reject the organs was based on the procurement surgeon’s clinical assessment. The main reason for liver rejection was alleged extreme steatosis, (6 of 9) or liver c…