Browsing by Subject "clinical article"
Now showing items 21-40 of 40
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Article
New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney
(2014)Background: Upper tract urothelial carcinomas (UT-UC) can invade the pelvicalyceal system making differential diagnosis of the various histologically distinct renal cell carcinoma (RCC) subtypes and UT-UC, difficult. Correct ...
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Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
(2004)Background: The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. ...
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NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome
(2008)
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Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1
(2003)Background. Autosomal dominant medullary cystic kidney disease (ADMCKD) is an inherited, distinct, chronic, tubulointerstitial, cystic-type nephropathy, often described together with juvenile nephronophthisis as a single ...
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Parental origin effects in human trisomy for chromosome 14q: Implications for genomic imprinting
(1998)Parental origin specific congenital anomalies have been noted in patients with uniparental disomy of the long arm of human chromosome 14 (UPD14). This suggests the presence of imprinted genes, consistent with observations ...
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Quality evaluation of ultrasound imaging in the carotid artery based on normalization and speckle reduction filtering
(2006)Image quality is important when evaluating ultrasound images of the carotid for the assessment of the degree of atherosclerotic disease, or when transferring images through a telemedicine channel, and/or in other image ...
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Quantitative texture analysis of brain white matter lesions derived from T2-weighted MR images in MS patients with clinically isolated syndrome
(2015)Introduction: This study investigates the application of texture analysis methods on brain T2-white matter lesions detected with magnetic resonance imaging (MRI) for the prognosis of future disability in subjects diagnosed ...
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Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region
(2001)Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. ...
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Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1
(2013)Background: Medullary cystic kidney disease (MCKD) is an inherited interstitial nephritis, leading to endstage renal disease (ESRD) between the fourth and seventh decade of life. MCKD shares clinical and morphological ...
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Article
RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2
(2011)Background: RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been ...
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Role of vascular normalization in benefit from metronomic chemotherapy
(2017)Metronomic dosing of chemotherapy - defined as frequent administration at lower doses - has been shown to be more efficacious than maximum tolerated dose treatment in preclinical studies, and is currently being tested in ...
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A Simplified Method for Measuring the Thickness of Glomerular Basement Membranes
(2003)Measurement of the thickness of glomerular basement membranes is required for the diagnosis of thin membrane nephropathy. Over the years various morphometric methods have been used but some are laborious so there is a need ...
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Spatial characteristics of urinary BTEX concentrations in the general population
(2017)Benzene, toluene, ethylbenzene, o-, m-, and p-xylenes (BTEX) are ubiquitous outdoor and indoor air pollutants associated with both environmental and health effects. The objective of this exploratory study was to determine ...
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Therapeutic monitoring of continuous infusion etoposide in small-cell lung cancer
(1996)Purpose: To investigate the feasibility of therapeutic monitoring of etoposide at different plasma concentrations of the drug, and the resulting pharmacodynamic effects of such an approach. Patients and Methods: Forty- ...
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Time-scale analysis of motor unit action potentials
(1999)Quantitative analysis in clinical electromyography (EMG) is very desirable because it allows a more standardized, sensitive and specific evaluation of the neurophysiological findings, especially for the assessment of ...
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A translation frameshift mutation induced by a cytosine insertion in the Polycystic Kidney Disease 2 gene (PKD2)
(1997)Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for ~ 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic ...
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Unsupervided pattern recognition for the classification of EMG signals
(1999)The shapes and firing rates of motor unit action potentials (MUAP's) in an electromyographic (EMG) signal provide an important source of information for the diagnosis of neuromuscular disorders. In order to extract this ...
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Use of real-time PCR and molecular beacons to detect virus replication in human immunodeficiency virus type 1-infected individuals on prolonged effective antiretroviral therapy
(1999)We have designed a novel, precise, and sensitive assay to measure unspliced (US) human immunodeficiency virus type 1 (HIV-1) mRNA in peripheral blood mononuclear cells of HIV-1-infected individuals by using real-time PCR ...
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X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5
(2012)The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria, hypertension ...
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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure
(2013)Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%), associated with alternate thinning and thickening as well as ...