Diagnostic Purposes (diagnostic + purpose)

Distribution by Scientific Domains
Distribution within Medical Sciences

Selected Abstracts

Fault diagnosis of a simulated industrial gas turbine via identification approach

S. Simani
Abstract In this paper, a model-based procedure exploiting the analytical redundancy principle for the detection and isolation of faults on a simulated process is presented. The main point of the work consists of using an identification scheme in connection with dynamic observer and Kalman filter designs for diagnostic purpose. The errors-in-variables identification technique and output estimation approach for residual generation are in particular advantageous in terms of solution complexity and performance achievement. The proposed tools are analysed and tested on a single-shaft industrial gas turbine MATLAB/SIMULINK® simulator in the presence of disturbances, i.e. measurement errors and modelling mismatch. Selected performance criteria are used together with Monte-Carlo simulations for robustness and performance evaluation. The suggested technique can constitute the design methodology realising a reliable approach for real application of industrial process FDI. Copyright © 2006 John Wiley & Sons, Ltd. [source]

Mucosal tissue transglutaminase expression in celiac disease

Vincenzo Villanacci
Abstract Tissue transglutaminase (tTG) plays an important role in celiac disease pathogenesis and antibodies to tTG are a diagnostic marker of gluten-sensitive enteropathy. The aim of this study was to investigate the localization of tTG in the duodenal mucosa in control tissues and in different histological stages of celiac disease by using a commercial and a novel set of anti-tTG monoclonal antibodies, to see whether this assessment can be useful for diagnostic purpose. The distribution of tTG was firstly evaluated in 18 untreated celiac patients by using a commercial monoclonal antibody (CUB7402) against tissue transglutaminase enzyme and directed against the loop-core region of the enzyme. Thereafter, in further 30 untreated celiac patients we employed three newly characterized anti-tTG monoclonal antibodies produced against recombinant human-tTG. The epitopes recognized are located in three distinct domains of the protein corresponding to the core, C1 and C2 protein structure. Eleven age- and sex-matched patients with chronic duodenitis acted as controls. All subjects underwent upper endoscopy to obtain biopsy samples from the duodenum. Overall, we found that (i) tTG is equally expressed in CD at different stages of disease; (ii) tTG is expressed, at similar level, in CD and controls with duodenitis. Assessment of tTG level in biopsy samples by immunohistochemical methods is not useful in the clinical diagnostic work-up of CD. [source]

Detection of marginal defects of composite restorations with conventional and digital radiographs

Rainer Haak
The purpose of this study was to determine the validity of detecting approximal imperfections of composite fillings using three intraoral radiographic systems in vitro. Class II composite resin restorations (108) with three radiopacities (264, 306, 443% Al 99.5) of which 27 had marginal openings or overhangs, respectively, were conventionally (Ektaspeed plus) and digitally (Dexis, Digora) radiographed. Images were assessed by 10 observers for the presence of marginal gaps and overhangs, as well as for their need of restorative treatment according to a five-point confidence rating scale. The validity of the observations were expressed as areas under receiver operating characteristic (ROC) curves (Aroc). Repeated measures analysis of variance revealed significant effects of ,radiographic system' and ,diagnostic purpose'. Marginal overhangs (Aroc = 0.90) were significantly easier to diagnose than openings (Aroc = 0.63). Marginal gaps were better detected on conventional and Dexis radiographs than on Digora images. the range of sensitivities and specificities of the treatment decision was 0.53,0.56 and 0.87,0.88, respectively. It was concluded that the validity of detecting marginal defects of composite resin restorations based on radiographs was only slightly affected by the radiographic system being used. The diagnosis of marginal gaps frequently resulted in false-positive and false-negative decisions. [source]

Detection of pemphigus desmoglein 1 and desmoglein 3 autoantibodies and pemphigoid BP180 autoantibodies in saliva and comparison with serum values

Dimitrios Andreadis
Although there is much literature on the detection of pemphigus and pemphigoid autoantibodies by enzyme-linked immunosorbent assay (ELISA) in serum, nothing is known about their presence in saliva. The aim of this study was to evaluate the salivary levels of these autoantibodies in pemphigus and pemphigoid patients. Autoantibodies against desmoglein3, desmoglein1, and BP180 were assayed, by ELISA, in serum and saliva samples of patients and healthy controls. The titres of autoantibodies against Dsg1/3 found in both serum and saliva of pemphigus patients showed a statistically significant correlation, suggesting that saliva may be a useful biological material for diagnostic purposes, in monitoring disease activity, as well as for the early detection of relapses. By contrast, the titres of autoantibodies against BP180 in the serum and saliva of bullous pemphigoid patients were not statistically related, and further study of the usefulness of the BP180 ELISA for saliva in this disease is needed. In addition, based on our results, the BP180 ELISA with a recombinant NC16a epitope failed to detect the autoantibodies against BP180 in the serum and saliva of mucous membrane pemphigoid patients. [source]

Combined neural network model to compute wavelet coefficients

EXPERT SYSTEMS, Issue 3 2006
nan Güler
Abstract: In recent years a novel model based on artificial neural networks technology has been introduced in the signal processing community for modelling the signals under study. The wavelet coefficients characterize the behaviour of the signal and computation of the wavelet coefficients is particularly important for recognition and diagnostic purposes. Therefore, we dealt with wavelet decomposition of time-varying biomedical signals. In the present study, we propose a new approach that takes advantage of combined neural network (CNN) models to compute the wavelet coefficients. The computation was provided and expressed by applying the CNNs to ophthalmic arterial and internal carotid arterial Doppler signals. The results were consistent with theoretical analysis and showed good promise for discrete wavelet transform of the time-varying biomedical signals. Since the proposed CNNs have high performance and require no complicated mathematical functions of the discrete wavelet transform, they were found to be effective for the computation of wavelet coefficients. [source]

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1

FEBS JOURNAL, Issue 24 2008
Michela Raponi
In disease-associated genes, understanding the functional significance of deep intronic nucleotide variants represents a difficult challenge. We previously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is ,c.293-279 A>G' mutation [Raponi M, Upadhyaya M & Baralle D (2006) Hum Mutat 27, 294,295]. In this paper, we investigate which characteristics play a role in regulating inclusion of the aberrant pseudoexon. Our investigation shows that pseudoexon inclusion levels are strongly downregulated by polypyrimidine tract binding protein and its homologue neuronal polypyrimidine tract binding protein. In particular, we provide evidence that the functional effect of polypyrimidine tract binding protein is proportional to its concentration, and map the cis -acting elements that are principally responsible for this negative regulation. These results highlight the importance of evaluating local sequence context for diagnostic purposes, and the utility of developing therapies to turn off activated pseudoexons. [source]

Bronchopneumonia and oral health in hospitalized older patients.

A pilot study
Abstract Aims: To correlate microbial findings obtained by bronchoalveolar lavage in pneumonia patients with the clinical situation of the oral cavity. Method: Quantitative aerobic and anaerobic cultures were carried out in 150 ml samples of bronchoalveolar lavage (BAL) obtained by means of an endoscope (Video Endoscope Pentax®) inserted per as in the infected bronchus. Material: Twenty consecutive patients with a tentative clinical diagnosis of bronchopneumonia in whom BAL was carried out for diagnostic purposes. A clinical evaluation of the oral health status (oral hygiene, caries, periodontal diseases) was subsequently carried out. Results: In seven edentulous subjects wearing complete dentures the culture of anaerobic microorganisms was negative or yielding less than 100 cfu/ml BAL. Two patients yielded high counts of S. aureus and one high counts of P. aeruginosa. In the 13 subjects with natural teeth left one showed high counts of Veillonella spp. (anaerobic)+P. aeruginosa, one high counts of Veillonella spp. +S. aureus, one high counts of P. aeruginosa + S. aureus and one high counts of E. coli. These four subjects showed poor oral hygiene, periodontal pockets and a BAL microflora consistent with periodontal pathology. Conclusion: The results of this pilot study suggest that microorganisms of denture plaque or associated with periodontal diseases may give rise to aspiration pneumonia in susceptible individuals. [source]

A Novel Oxime-Derived Solid Support for the Synthesis of 3-Phosphorylated Oligonucleotides

Oligonucleotides containing terminal phosphate groups serve as useful intermediates for different applications in molecular and cell biology, as well as for diagnostic purposes. The chemical synthesis of these derivatives has been an important topic of oligonucleotide research. We report here a novel polystyrene-based solid support bearing an , -hydroxy oximate linker that allows the synthesis of 3,-phosphorylated oligodeoxynucleotides as well as oligoribonucleotides in high quality. The formation of the phosphorylated oligonucleotides likely proceeds through an eliminative pathway with concurrent nitroso-ene production. [source]

A novel approach to the intraoperative assessment of the uncinate margin of the pancreaticoduodenectomy specimen

HPB, Issue 2 2007
Abstract Background. Currently, there is no consensus regarding the pancreaticoduodenectomy (PD) margins examined intraoperatively or the technical protocol for frozen section examination. The aim of this work was to summarize our experience regarding the intraoperative examination of the uncinate margin and to compare it with the published literature. Materials and methods. Our local protocol for the intraoperative assessment of the uncinate margin of the PD specimen is described in this article. A PubMed® search limited to English language publications using terms along the theme of pancreaticoduodenectomy and margin was performed. Retrieved articles were categorized according to whether they discussed frozen section margin examination. Results. Ten articles published between 1981 and 2005 were retrieved which discussed the intraoperative examination of PD specimens. Of the 10 articles, 5 discussed the intraoperative consultation for diagnostic purposes only, 2 discussed the consultation for both diagnostic purposes and assessment of margins, and 3 discussed intraoperative assessment of margins only. Of the total of five articles that discussed the intraoperative assessment of margins, none detailed the technical protocol for examining the uncinate margin. Discussion. Our proposed protocol for the intraoperative assessment of the uncinate margin of PD specimens allows for its accurate evaluation and has not been described previously in the English literature. [source]

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes,

HUMAN MUTATION, Issue 3 2010
Sandie Le Guédard-Méreuze
Abstract Molecular diagnosis in Usher syndrome type 1 and 2 patients led to the identification of 21 sequence variations located in noncanonical positions of splice sites in MYO7A, CDH23, USH1C, and USH2A genes. To establish experimentally the splicing pattern of these substitutions, whose impact on splicing is not always predictable by available softwares, ex vivo splicing assays were performed. The branch-point mapping strategy was also used to investigate further a putative branch-point mutation in USH2A intron 43. Aberrant splicing was demonstrated for 16 of the 21 (76.2%) tested sequence variations. The mutations resulted more frequently in activation of a nearby cryptic splice site or use of a de novo splice site than exon skipping (37.5%). This study allowed the reclassification as splicing mutations of one silent (c.7872G>A (p.Glu2624Glu) in CDH23) and four missense mutations (c.2993G>A (p.Arg998Lys) in USH2A, c.592G>A (p.Ala198Thr), c.3503G>C [p.Arg1168Pro], c.5944G>A (p.Gly1982Arg) in MYO7A), whereas it provided clues about a role in structure/function in four other cases: c.802G>A (p.Gly268Arg), c.653T>A (p.Val218Glu) (USH2A), and c.397C>T (p.His133Tyr), c.3502C>T (p.Arg1168Trp) (MYO7A). Our data provide insights into the contribution of splicing mutations in Usher genes and illustrate the need to define accurately their splicing outcome for diagnostic purposes. Hum Mutat 31:1,9, 2010. © 2010 Wiley-Liss, Inc. [source]

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC),

HUMAN MUTATION, Issue 11 2009
Eva Richard
Abstract Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B12 metabolism. The aim of this work was to identify the mutational spectrum in a cohort of cblC -affected patients and the analysis of the cellular oxidative stress and apoptosis processes, in the presence or absence of vitamin B12. The mutational spectrum includes nine previously described mutations: c.3G>A (p.M1L), c.217C>T (p.R73X), c.271dupA (p.R91KfsX14), c.331C>T (p.R111X), c.394C>T (p.R132X), c.457C>T (p.R153X), c.481C>T (p.R161X), c.565C>A (p.R189S), and c.615C>G (p.Y205X), and two novel changes, c.90G>A (p.W30X) and c.81+2T>G (IVS1+2T>G). The most frequent change was the known c.271dupA mutation, which accounts for 85% of the mutant alleles characterized in this cohort of patients. Owing to its high frequency, a real-time PCR and subsequent high-resolution melting (HRM) analysis for this mutation has been established for diagnostic purposes. All cell lines studied presented a significant increase of intracellular reactive oxygen species (ROS) content, and also a high rate of apoptosis, suggesting that elevated ROS levels might induce apoptosis in cblC patients. In addition, ROS levels decreased in hydroxocobalamin-incubated cells, indicating that cobalamin might either directly or indirectly act as a scavenger of ROS. ROS production might be considered as a phenotypic modifier in cblC patients, and cobalamin supplementation or additional antioxidant drugs might suppress apoptosis and prevent cellular damage in these patients. Hum Mutat 30:1,9, 2009. © 2009 Wiley-Liss, Inc. [source]

A Chart-Based Method for Identification of Delirium: Validation Compared with Interviewer Ratings Using the Confusion Assessment Method

Sharon K. Inouye MD
Objectives: To validate a chart-based method for identification of delirium and compare it with direct interviewer assessment using the Confusion Assessment Method (CAM). Design: Prospective validation study. Setting: Teaching hospital. Participants: Nine hundred nineteen older hospitalized patients. Measurements: A chart-based instrument for identification of delirium was created and compared with the reference standard interviewer ratings, which used direct cognitive assessment to complete the CAM for delirium. Trained nurse chart abstractors were blinded to all interview data, including cognitive and CAM ratings. Factors influencing the correct identification of delirium in the chart were examined. Results: Delirium was present in 115 (12.5%) patients according to the CAM. Sensitivity of the chart-based instrument was 74%, specificity was 83%, and likelihood ratio for a positive result was 4.4. Overall agreement between chart and interviewer ratings was 82%, kappa=0.41. By contrast, using International Classification of Diseases, Ninth Revision, Clinical Modification, administrative codes, the sensitivity for delirium was 3%, and specificity was 99%. Independent factors associated with incorrect chart identification of delirium were dementia, severe illness, and high baseline delirium risk. With all three factors present, the chart instrument was three times more likely to identify patients incorrectly than with none of the factors present. Conclusion: A chart-based instrument for delirium, which should be useful for patient safety and quality-improvement programs in older persons, was validated. Because of potential misclassification, the chart-based instrument is not recommended for individual patient care or diagnostic purposes. [source]

Protein profiling of organic stone matrix and urine from dogs with urolithiasis

S. Forterre
Summary Two-thirds of the organic matrix in urinary stones consists of proteins. Their relationship to calculogenesis remains controversial with regard to their effect as inhibitors or promoters during stone formation. The purpose of the present study was to determine the differences in peptide and protein pattern between the urine of stone formers (n = 23) and control dogs (n = 12), as well as between organic matrix of different urinary stones (struvite n = 11, calcium oxalate n = 8, uric acid n = 4) using surface-enhanced laser desorption/ionization time-of-flight mass spectrometry. Specific differences in protein and peptide profiles were found in the organic matrix of different mineral compositions. Characteristic differences were also found in urinary peptide and protein pattern especially in molecular masses below 20 kDa between affected and healthy dogs. Based on the obtained molecular masses they were in some cases tentatively identified as proteins that are known to be involved in stone formation in humans. The study shows that in dogs, specific-urinary peptides and proteins might be associated with urolithiasis. It indicates the importance to further characterize those proteins for possible diagnostic purposes in prognosis and therapy. [source]

Virulence genes of bovine Staphylococcus aureus from persistent and nonpersistent intramammary infections with different clinical characteristics

M. Haveri
Abstract Aims:, To screen putative virulence genes in Staphylococcus aureus causing persistent and nonpersistent bovine intramammary infections (IMI) with different clinical characteristics. To examine, whether a possible relationship exists between genetic profile and infection persistence, clinical signs of infection, clonal type determined by pulsed-field gel electrophoresis (PFGE), and antimicrobial resistance. Methods and Results:, One-hundred and sixty-one S. aureus isolates derived from bovine IMI, consisting of 17 different PFGE types, were screened by conventional and multiplex-polymerase chain reaction (PCR) for 24 virulence genes for haemolysins (hla-hlg), leukocidins (lukED, lukM), exfoliative toxins (eta, etb), enterotoxins (sea-seo, seu), toxic-shock syndrome toxin (tst), and genes encoding penicillin (blaZ) and methicillin resistance (mecA). The majority of S. aureus isolated at the onset of mastitis carried haemolysin genes (76·7,97·4%), lukED (96·6%), and at least one gene for pyrogenic toxin superantigen (PTSAg) (69·0%). Strains carrying PTSAg-encoding genes were more common among predominant PFGE types and in persistent IMI. Strains concomitantly possessing sed, sej, and blaZ, putatively plasmid-encoded, were typically found in connection with persistent IMI. Conclusions:, Our results suggest that certain genetic elements are over-representative in S. aureus isolates especially from persistent bovine mastitis. This phenomenon seems to be in connection with clonal type and is often concomitant with penicillin resistance. Significance and Impact of the Study:, This is the first study to investigate associations between a large number of bacterial factors and outcome of S. aureus mastitis. The finding that widespread clonal types of S. aureus causing bovine mastitis of low treatment response may harbour characteristic genes could be improved for strain-specific diagnostic purposes. [source]

Mixture modelling of medical magnetic resonance data

Ron Wehrens
Abstract In clinical decision making, (semi-)automatic unsupervised classification of data for diagnostic purposes is becoming more and more important. This paper describes the application of mixture modelling, a clustering where multivariate Gaussians are used to describe clusters in the data, to in vivo nuclear magnetic resonance data of patients with brain tumours. Images as well as localized spectra are analysed. The method is able to automatically generate meaningful classifications. Moreover, the results of clustering both the image and spectral data are in close agreement. Copyright © 2002 John Wiley & Sons, Ltd. [source]

Ultrasound-guided core needle biopsy of breast masses: How many cores are necessary to diagnose cancer?

Clécio, nio Murta de Lucena MD
Abstract Purpose. To investigate the number of cores required to diagnose breast cancer using ultrasound (US)-guided core needle biopsy. Methods. US-guided core biopsy of 150 masses was performed in 144 patients. For each mass, 6 cores were obtained and analyzed separately. The histopathologic diagnosis was classified as benign, malignant, or normal breast tissue. Each core was analyzed separately. For diagnostic purposes, the cases were grouped as follows: group G1 comprised the first core; group G2 comprised the first and second core; group G3 comprised the first 3 cores; up to group G6, which included all 6 cores. The results were also analyzed by tumor size (,2 cm and >2 cm). Results. The sensitivity in the diagnosis of breast cancer was 90.1% in group G1 and 94.1% in the remaining groups (G2,G6). In tumors ,2 cm, the sensitivity was 88.4% for group G1 and 90.7% for the others, whereas for tumors >2 cm the sensitivity was 91.4% for group G1 and 96.6% when 2 or more cores were obtained. Conclusion. It appears that 2 cores are sufficient to diagnose breast cancer in this study population assuming no technical error occurred in US guidance of the needle through the mass. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2007 [source]

Humoral immunity in natural infection by tick-borne encephalitis virus

Giulietta Venturi
Abstract Tick-borne encephalitis (TBE) virus is one of the most important flaviviruses associated with neurological disease in Europe. Cross-reactive antibodies elicited by different flaviviruses can make difficult the interpretation of ELISA and hemagglutination-inhibition (HI) tests for the diagnosis of TBE. Neutralization tests, which are more specific, are not in common use because they are difficult to perform and standardize. A plaque reduction neutralization test (PRNT), optimized previously in vaccinated children, was evaluated in sera from acute cases of TBE, collected for diagnostic purposes, and from healthy human population and wild ruminants, collected for serosurvey purposes. The PRNT results were compared with the results of ELISA and HI tests. In acute TBE disease, most sera were positive for IgM antibodies by ELISA and with high HI antibody titers; neutralizing antibodies were detected in 71.4% of patients, at a very low titer (1:10 NT50) in almost all cases. Seroprevalences of 8% and 6.5% for anti-TBE ELISA antibodies were found in healthy subjects and wild ruminants, respectively. Among anti-TBE positive healthy subjects, a very low 1:10 NT50 titer was detected in 17.4% of cases, while NT80 titers ranging from 1:10 to 1:80 were detected in 65.2% of cases. Among wild ruminants, 90.9% of ELISA and HI positive samples showed a positive, ,1:10 NT80 titer. In conclusion, neutralization assays can be useful for the diagnosis and serosurveys of TBE. J. Med. Virol. 81:665,671, 2009 © 2009 Wiley-Liss, Inc. [source]

Complications of exploratory coeliotomy in 70 cats

S. Lester
Records of all cats that had undergone exploratory coeliotomy at the University of Edinburgh during the period November 1995 to July 2002 were reviewed. Seventy records were retrieved. There were 30 cats in which infection or inflammatory disorders predominated, 17 cats with neoplasia, three cats with trauma and 20 cats with other disorders. Exploratory coeliotomy was performed for diagnostic purposes in 28 cats (40 per cent), treatment in 34 cats (49 per cent) and for diagnosis and treatment in eight cats (11 per cent). Methods of intraoperative diagnosis included incisional biopsy of abdominal organs (52 cats), cytology (two cats), microbiology (17 cats) and gross appearance (17 cats). Fifty-eight cats (83 per cent) survived the hospitalisation period. Complications occurred in 18 cats (26 per cent) and were related to anaesthesia (four cats), the underlying disease process (15 cats), surgery (five cats) and were undetermined in one cat. [source]

The use of biomagnetic separation to recover DNA suitable for PCR from Claviceps species ,

D.L. Scott Jr
DNA analysis of agriculturally important fungi using polymerase chain reaction (PCR)-based methods is becoming routine in research and for diagnostic purposes. Rapid, small-scale DNA isolation methods that take advantage of the sensitivity, speed and automation potential of PCR technology are needed for timely analysis of important plant pathogens. DNA isolated from Claviceps africana (causal agent of ergot of sorghum) using several standard DNA extraction protocols was found to be unamplifiable using PCR. The standard methods apparently failed to separate DNA from substances inhibitory to the Taq polymerase enzyme. We obtained DNA amenable to PCR analysis using a novel method involving magnetic beads and high salt extraction buffer. The biomagnetic purification method allowed us to obtain reliable PCR amplification of the internal transcribed spacer (ITS) regions of rDNA of Claviceps africana, making genetic comparisons possible. [source]

Detection of pollen grains in multifocal optical microscopy images of air samples

Sander H. Landsmeer
Abstract Pollen is a major cause of allergy and monitoring pollen in the air is relevant for diagnostic purposes, development of pollen forecasts, and for biomedical and biological researches. Since counting airborne pollen is a time-consuming task and requires specialized personnel, an automated pollen counting system is desirable. In this article, we present a method for detecting pollen in multifocal optical microscopy images of air samples collected by a Burkard pollen sampler, as a first step in an automated pollen counting procedure. Both color and shape information was used to discriminate pollen grains from other airborne material in the images, such as fungal spores and dirt. A training set of 44 images from successive focal planes (stacks) was used to train the system in recognizing pollen color and for optimization. The performance of the system has been evaluated using a separate set of 17 image stacks containing 65 pollen grains, of which 86% was detected. The obtained precision of 61% can still be increased in the next step of classifying the different pollen in such a counting system. These results show that the detection of pollen is feasible in images from a pollen sampler collecting ambient air. This first step in automated pollen detection may form a reliable basis for an automated pollen counting system. Microsc. Res. Tech., 2009. © 2009 Wiley-Liss, Inc. [source]

Levodopa responsiveness in disorders with parkinsonism: A review of the literature,

Radu Constantinescu MD
Abstract A literature review was conducted to investigate whether or not levodopa (LD) responsiveness (LR) is a useful criterion in the diagnosis of parkinsonian disorders. Although LR does appear to differ among the parkinsonian disorders, there is considerable confusion in the literature. While most patients with Parkinson's disease (PD) have a sustained benefit from LD, a small minority of patients with documented PD do not respond. The literature suggests that the LR rate is higher for multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD) than based on published diagnostic criteria. Magnitude and duration of response to LD and tolerability (time course, type and distribution of dyskinesias, mental effects and motor worsening) may be useful features in distinguishing PD, MSA, PSP, and CBD. Efforts should be directed toward better defining LR when used for diagnostic purposes and in scientific publications. © 2007 Movement Disorder Society [source]

Histomorphometry of brain tumours

R. Nafe
In this review, the results of previous histomorphometric studies of brain tumours are summarized and discussed with respect to their potential value for diagnostic purposes and for tumour research. In the majority of these studies, human gliomas were investigated. In a few studies, human meningiomas and other human or experimental tumour types were investigated. A computerized image analysis system was used for the morphometric analyses in most studies. The three main histologic structures examined were tumour cell nuclei, nucleolar organizer regions and tumour vessels. The current state of knowledge provides evidence that a diagnostic benefit could be provided by histomorphometric investigations of brain tumours, especially for grading of gliomas and with respect to independent prognostic information. Additional studies are necessary to delineate the spectrum of histomorphometric parameters and the investigation of their prognostic significance for cases with the same tumour type and tumour grade. Together with many recently published observations in this field, this review shows that histomorphometry is an important approach towards the investigation of brain tumour biology. [source]

Application of hyphenated mass spectrometry techniques for the analysis of urinary free glucocorticoids

Angela Cuzzola
Alteration of levels of glucocorticoids in plasma and urine can be related to several diseases. In particular, the determination of endogenous glucocorticoids in urine has been reported to provide information on cortisol and cortisone status, on the activities of steroid hormone enzymes and on glucocorticoid metabolism. In this study, the application of hyphenated mass spectrometry techniques (GC/MS without derivatization and LC/MS) for the simultaneous analysis of free urinary cortisol (F), cortisone (E), tetrahydrocortisol (THF), allo-tetrahydrocortisol (A-THF) and tetrahydrocortisone (THE) was evaluated. A sample preparation protocol by solid-phase extraction, mass spectrometry parameters and chromatographic conditions for both techniques were carefully optimized in terms of extracting phase and solvents, matrix effects, recovery, sensitivity and compound resolution. Baseline separation was achieved for the five underivatized analytes both in GC and LC. The LC/MS/MS technique was more suitable for the analysis of urine samples, being less influenced by matrix effects and showing excellent sensitivity and selectivity. A preliminary application of the reported method for the diagnosis of metabolic diseases was also described. The determination of each analyte in its free form, described for the first time in the paper, offers new perspectives in the application of glucocorticoid analysis for diagnostic purposes. Copyright © 2009 John Wiley & Sons, Ltd. [source]

Osteopontin is upregulated in malignant and inflammatory pleural effusions

RESPIROLOGY, Issue 5 2009
Charalampos MOSCHOS
ABSTRACT Background and objective: Osteopontin (OPN) is an important mediator of inflammation and cancer progression. In the present study, we asked whether pleural fluid (PF) and serum OPN concentrations differed between patients with pleural effusions of different aetiologies, and whether assessment of OPN levels was useful for diagnostic purposes. Methods: One hundred and nine consecutive patients with pleural effusions of different aetiologies were recruited prospectively during daily clinics. OPN levels were measured by ELISA. Results: PF OPN levels were 10-fold higher in exudates than in transudates and were significantly correlated with markers of pleural inflammation and vascular hyper-permeability, such as PF/serum LDH or protein ratios, PF protein and PF vascular endothelial growth factor levels. Patients with malignant pleural effusions had higher PF and lower serum OPN concentrations than those with benign disease. The diagnostic accuracies of PF and PF/serum OPN for malignancy were 71.5% (95% CI: 64,80) and 70.6% (95% CI: 62,80), respectively. Conclusions: OPN levels were elevated in exudative pleural effusions, as compared with the levels in blood or transudative pleural effusions. While PF and PF/serum OPN were higher in patients with malignancies, the diagnostic accuracy of the tests was not sufficient to permit routine use in clinical practice. [source]

Progressive Sensorineural Hearing Loss in Children With Mitochondrial Encephalomyopathies,

Priv. Doz.
Abstract Objective Mitochondrial disorders are responsible for a variety of neurological syndromes. Specific mitochondrial DNA mutations have been identified recently in some of these rare disorders. Clinical symptoms may occur in different organs to various extent; often they are associated with progressive hearing loss. The aims of this study were to determine incidence, onset, and characteristics of hearing loss in children with mitochondrial encephalomyopathies and to investigate a possible correlation between the degree of hearing loss and neurological symptoms. In addition, we investigated the prognostic value of hearing loss as a predictor of the disease. Study Design From August 1992 to September 1998, 29 patients ranging in age from 5 to 23 years (mean years) were studied. These children were hospitalized for diagnostic purposes in the neuropediatric department. Methods The mitochondrial disorder was diagnosed by clinical and laboratory testings, including analysis of the mtDNA. Audiological evaluation consisted of measurements of pure-tone and speech audiometry, tympanometry, and acoustic refle- threshold testing, auditory brainstem response, and evoked as well as distortion-product otoacoustic emissions. Results A sensorineural hearing loss was identified in 12 children. Three of these were diagnosed as having classic Kearns-Sayre syndrome; five as having multisystem KSS; two as having the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); one as having KSS-MELAS overlap syndrome; and one as having Friedreich ataxia. Longitudinal testing was performed in seven children, and in all of them a progression of the hearing loss could be demonstrated. Audiological test results in all 12 children suggested cochlear as well as retrocochlear origin of the hearing loss presenting independently from the severity of hearing impairment. No correlation between the characteristics and degrees of hearing loss and the number and severity of clinical neurological symptoms could be found. Conclusions The present study demonstrated a high incidence (42%) of sensorineural hearing loss in children with mitochondrial encephalomyopathies. The progressive nature of the hearing impairment was confirmed by a significant correlation between the duration in years and severity of hearing loss in the children. The hearing loss does not have a prognostic value for the progression of the disorder. Based on our findings, we recommend regular audiometric examinations in patients with mitochondrial disorders. [source]

Semi-geostrophic solutions for flow over a ridge

M. J. P. Cullen
Abstract An algorithm for solving the semi-geostrophic (SG) equations using real physical variables in terrain-following coordinates is developed and used to demonstrate the expected rate of convergence of solutions of the complete equations of motion to SG solutions as the Rossby number is reduced. The tests are carried out with significant orography in a vertical slice geometry. Two asymptotic limits are tested. The SG limit is singular in one of the limits and smooth in the other. The results show the validity of using the SG model for diagnostic purposes in appropriate regimes. They also expose a number of boundary condition and numerical issues, showing that comparison with rigorous error estimates is a useful way of validating numerical procedures. © Crown Copyright 2007. Reproduced with the permission of the Controller of HMSO. Published by John Wiley & Sons, Ltd [source]

Recurrent Primary Biliary Cirrhosis After Liver Transplantation

M. G. Silveira
Recurrent primary biliary cirrhosis (PBC) is an important clinical outcome after liver transplantation (LT) in selected patients. Prevalence rates for recurrent PBC (rPBC) reported by individual LT programs range between 9% and 35%. The diagnostic hallmark of rPBC is histologic identification of granulomatous changes. Clinical and biochemical features are frequently absent with rPBC and cannot be used alone for diagnostic purposes. Some of the risk factors of rPBC may include recipient factors such as age, gender, HLA status and immunosuppression, as well as donor factors such as age, gender and ischemic time, although controversy exists. Most patients have early stage disease at the time of diagnosis, and there may be a role for therapy with ursodeoxycholic acid. While short- and medium-term outcomes remain favorable, especially if compared to patients transplanted for other indications, continued follow-up may identify reduced long-term graft and patient survival. [source]

Mature human spermatozoa do not transcribe novel RNA

ANDROLOGIA, Issue 2-3 2005
S. Grunewald
Summary Mature spermatozoa contain subsets of mRNA that have been found in human testes before. Based on this finding it was hypothesized that the mRNAs of spermatozoa are transcribed during spermatogenesis. However, up to now there is no proof of the transcriptional inactivity of human sperm. To address this issue we performed in vitro labelling experiments with radio-labelled uridine triphosphate followed by analysis of cellular RNA. There was virtually no radioactive RNA detectable in the RNA purified from human spermatozoa proving the transcriptional inactivity of mature spermatozoa. The spermatozoal RNA obviously results from transcription during spermatogenesis and can be used for diagnostic purposes. These findings might have diagnostic and , possibly , therapeutic value in infertility patients as spermatozoal RNAs might complement the RNA pool of the oocyte after fertilization. [source]

Brain,computer interfacing based on cognitive control

Mariska J. Vansteensel PhD
Objective Brain,computer interfaces (BCIs) translate deliberate intentions and associated changes in brain activity into action, thereby offering patients with severe paralysis an alternative means of communication with and control over their environment. Such systems are not available yet, partly due to the high performance standard that is required. A major challenge in the development of implantable BCIs is to identify cortical regions and related functions that an individual can reliably and consciously manipulate. Research predominantly focuses on the sensorimotor cortex, which can be activated by imagining motor actions. However, because this region may not provide an optimal solution to all patients, other neuronal networks need to be examined. Therefore, we investigated whether the cognitive control network can be used for BCI purposes. We also determined the feasibility of using functional magnetic resonance imaging (fMRI) for noninvasive localization of the cognitive control network. Methods Three patients with intractable epilepsy, who were temporarily implanted with subdural grid electrodes for diagnostic purposes, attempted to gain BCI control using the electrocorticographic (ECoG) signal of the left dorsolateral prefrontal cortex (DLPFC). Results All subjects quickly gained accurate BCI control by modulation of gamma-power of the left DLPFC. Prelocalization of the relevant region was performed with fMRI and was confirmed using the ECoG signals obtained during mental calculation localizer tasks. Interpretation The results indicate that the cognitive control network is a suitable source of signals for BCI applications. They also demonstrate the feasibility of translating understanding about cognitive networks derived from functional neuroimaging into clinical applications. ANN NEUROL 2010 [source]

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy

Daniel Fernandez-Moreira PharmB
Objective Mitochondrial complex I deficiency is the commonest diagnosed respiratory chain defect, being genetically heterogeneous. The male preponderance of previous patient cohorts suggested an X-linked underlying genetic defect. We investigated mutations in the X-chromosomal complex I structural genes, NDUFA1 and NDUFB11, as a novel cause of mitochondrial encephalomyopathy. Methods We sequenced 12 nuclear genes and the mitochondrial DNA,encoded complex I genes in 26 patients with respiratory chain complex I defect. Novel mutations were confirmed by polymerase chain reaction restriction length polymorphism. Assembly/stability studies in fibroblasts were performed using two-dimensional blue native gel electrophoresis. Results Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. Two-dimensional blue native gel electrophoresis showed decreased levels of intact complex I with no accumulation of lower molecular weight subcomplexes, indicating that assembly, stability, or both are compromised. Interpretation Mutations in the X-linked NDUFA1 gene result in complex I defect and encephalomyopathy. Assembly/stability analysis might give an explanation for the different clinical phenotypes and become useful for future diagnostic purposes. Ann Neurol 2007;61:73,83 [source]