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Disease Cases (disease + case)
Selected AbstractsUpregulation of glycolytic enzymes in proteins secreted from human colon cancer cells with 5-fluorouracil resistanceELECTROPHORESIS, Issue 12 2009Young-Kyoung Shin Abstract 5-Fluorouracil (5-FU) is the most commonly used chemotherapeutic agent for colorectal cancer (CRC). However, resistance to this drug is a major obstacle in CRC chemotherapy. Accurate prediction of response to 5-FU would avoid unnecessary chemotherapy and allow the selection of other effective drugs. To identify a candidate predictor of 5-FU resistance, we isolated secreted proteins that were up- or downregulated in a 5-FU-resistant cancer cell line, compared with the parent cell line (SNU-C4), using a stable isotope-coded labeling protocol. For validating the clinical applicability of this method, levels of the identified proteins were determined in the sera of 46 patients treated with 5-FU. In total, 238 proteins with molecular weights ranging from 50 to 75,kDa were identified. Among these, 45 and 35 secreted proteins were up- and downregulated in the 5-FU-resistant cell line, respectively. We observed significant upregulation of glycolytic enzymes, including glyceraldehyde-3-phosphate dehydrogenase, pyruvate kinase M2 (PK-M2), transketolase, and NADP(+)-dependent malic enzyme 1. In particular, the level of PK-M2, a key enzyme in the glycolytic pathway, showed an increasing tendency in both sera and tissues from CRC patients displaying no response to 5-FU-based chemotherapy (progressive and stable disease cases), compared with that in complete or partial responders to 5-FU-based chemotherapy; however, it did not reach the statistical significance. In conclusion, increasing pattern of PK-M2 observed with 5-FU resistance induced in vitro and in sera and tissues from CRC patients displaying poor response to 5-FU-based chemotherapy suggest the relevance of dysregulated glycolysis and 5-FU-resistant CRC. [source] A statistical method for scanning the genome for regions with rare disease allelesGENETIC EPIDEMIOLOGY, Issue 5 2010Chad GarnerArticle first published online: 21 JUN 2010 Abstract Studying the role of rare alleles in common disease has been prevented by the impractical task of determining the DNA sequence of large numbers of individuals. Next-generation DNA sequencing technologies are being developed that will make it possible for genetic studies of common disease to study the full frequency spectrum of genetic variation, including rare alleles. This report describes a method for scanning the genome for disease susceptibility regions that show an increased number of rare alleles among a sample of disease cases versus an ethnically matched sample of controls. The method was based on a hidden Markov model and the statistical support for a disease susceptibility region characterized by rare alleles was measured by a likelihood ratio statistic. Due to the lack of empirical data, the method was evaluated through simulation. The performance of the method was tested under the null and alternative hypotheses under a range of sequence generating and hidden Markov models parameters. The results showed that the statistical method performs well at identifying true disease susceptibility regions and that performance was primarily affected by the amount of variation in the neutral sequence and the number of rare disease alleles found in the disease susceptibility region. Genet. Epidemiol. 34: 386,395, 2010. İ 2010 Wiley-Liss, Inc. [source] Our experience in eight cases with urinary hydatid disease: A series of 372 cases held in nine different clinicsINTERNATIONAL JOURNAL OF UROLOGY, Issue 9 2006LMAZ Objectives: Hydatid disease, a parasitic infestation caused by the larval stage of the cestode Echinococcus granulosus, is diagnosed commonly in the east and south-east regions of Turkey. The aim of this study is to emphasize the relatively frequent occurrences of echinococcosis in our region, and to discuss therapeutic options and treatment results according to current literature. Methods: A retrospective 10-year review of nine different clinics' records of the Research Hospital of the Medical School of Yüzüncü Y,l University revealed 372 hydatid disease cases that were localized in various organs and treated surgically (271 cases) or drained percutaneously (99 cases). Hydatid disease was diagnosed by ultrasonography (US) and computed tomography scans (CT) and confirmed histopathologically. Results: The involved organ was lung in 203 cases (131 adults, 72 children), liver in 150, spleen in 9, brain in 2, kidneys in 7 cases and the retrovesical area in 1 case. The urogenital system is involved at a rate of 2.15%. Two hundred and seventy-one cases were treated surgically and 99 percutaneously. Two cases with renal hydatid cyst refused the surgical procedure (one had a solitary kidney with hydatid cyst). Albendazole was administered to 192 patients; 93 patients had open surgical procedure and 99 patients underwent percutaneous procedure. Cysts were excised totally in the open surgical procedure; however, involved kidneys were removed totally (four cases) except one. Cystectomy and omentoplasty was performed in one case. Complications were as follows: in six cases, cystic material was spilled into the bronchial cavity during the dissection and a renal hydatid cyst ruptured and spilled retroperitoneally. Conclusion: Hydatid disease is a serious health problem in Turkey. The mainly affected organs are liver and lung. It can be treated surgical or by percutaneous aspiration. [source] Laminar specific loss of isocortical presenilin 1 immunoreactivity in Alzheimer's disease.NEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 2 2000Correlations with the amyloid load, the density of tau-positive neurofibrillary tangles Presenilin 1 has been shown to be mutated in a high proportion of cases of familial Alzheimer's disease. Immunoreactive epitopes of the protein have been found mainly in neurones devoid of neurofibrillary tangles , an observation that has led to the conclusion that presenilin 1 could have a protective role. In this study, the relationship between deposits of A, peptide (both the 40 and 42 isoforms), tau positive neurofibrillary tangles and presenilin 1-positive neuronal profiles were analysed in three cases of presenilin 1 mutation, four cases of sporadic Alzheimer's disease and five controls. Immunohistochemistry was performed in a sample from the supramarginal gyrus. The proportion of volume occupied by the A,1,40 and A,1,42 deposits (amyloid load) was evaluated by a point-counting technique. Tau-positive neurofibrillary tangles, and presenilin 1-positive neuronal profiles were directly counted. The location of the lesions in the thickness of the cortex was recorded. The density of PS1-positive neuronal profiles in Alzheimer's disease cases was lower than in the controls. The deficit was significant only in the upper layers of the cortex. The density of presenilin 1 neuronal profiles was negatively correlated with A,1,40 and A,1,42 loads, and with the density of tau-positive neurofibrillary tangles. Multivariate analysis showed that the A,1,42 load was the best determinant of the decrease in presenilin 1-positive neuronal profiles. Presenilin 1-positive neurones appear to be lost rather than protected in the course of Alzheimer disease. [source] Hepatitis B vaccine and risk of autoimmune thyroid disease: a Vaccine Safety Datalink study,PHARMACOEPIDEMIOLOGY AND DRUG SAFETY, Issue 7 2007Onchee Yu MS Abstract Purpose Hepatitis B vaccine has been postulated as a possible cause of autoimmune disorders, including autoimmune thyroid diseases (ATD). Cases of Graves' disease and Hashimoto's thyroiditis, following hepatitis B vaccine have been reported to the Vaccine Adverse Events Reporting System (VAERS). To test the hypothesis that hepatitis B vaccine increases the risk of ATD, we conducted a case-control study, within the Vaccine Safety Datalink project. Methods We identified potential cases of Graves' disease and Hashimoto's thyroiditis, among persons aged 18,69 years from administrative data recorded by three health maintenance organizations (HMOs) and verified cases by medical record review. Controls were frequency-matched to cases by birth year, sex, and study site. Vaccine information was collected from administrative records, chart review, and telephone interviews with study subjects. We enrolled 355 Graves' disease cases, 418 Hashimoto's thyroiditis cases, and 1102 controls. We assessed the association between ever-receipt of hepatitis B vaccine, as well as receipt of hepatitis B vaccine less than 1 year, 1,5 years and at least 5 years prior to the index date, and the risk of ATD. Results Ever-receipt of hepatitis B vaccine was not associated with risk of Graves' disease (odds ratio (OR), 0.90; 95% confidence interval (CI), 0.62,1.32) or Hashimoto's thyroiditis (OR, 1.23; 95%CI, 0.87,1.73). There was also no association between the time interval since receipt of hepatitis B vaccination and either outcome. Conclusions We did not observe an increased risk of Graves' disease or Hashimoto's thyroiditis, following receipt of hepatitis B vaccine. Copyright İ 2007 John Wiley & Sons, Ltd. [source] CCR1 is an early and specific marker of Alzheimer's diseaseANNALS OF NEUROLOGY, Issue 5 2003Meredith Halks-Miller MD Chemokines are a diverse group of small proteins that effect cell signaling by binding to G-protein,coupled, seven-trans-membrane receptors. Our group had found previously that the chemokine receptor CCR1 was present in neurons and dystrophic processes in a small sample of Alzheimer's disease cases. This expanded immunohistochemical study shows that the number of CCR1-positive plaque-like structures in the hippocampus and entorhinal cortex is highly correlated to dementia state as measured by the clinical dementia rating score. CCR1 immunoreactivity is found in dystrophic, neurofilament-positive, synaptophysin-negative neurites that are associated with senile plaques containing amyloid beta peptides of the 1-42 species (A,42). CCR1 was not, however, associated with diffuse deposits of A,42. There was limited expression of CCR1 in neurofibrillary tangle-bearing neuritic processes. Astrocytes and microglia were typically negative for CCR1. Human brains from age-matched, nondemented individuals rarely displayed either CCR1 or A,42 immunoreactivity. Seven other types of dementing neurodegenerative diseases were examined, and all failed to demonstrate CCR1 immunopositivity unless A,42-positive plaques were also present. Thus, neuronal CCR1 is not a generalized marker of neurodegeneration. Rather, it appears to be part of the neuroimmune response to A,42-positive neuritic plaques. [source] Does autoimmune thyroid disease affect parathyroid autotransplantation and survival?ANZ JOURNAL OF SURGERY, Issue 5 2009Houman Ebrahimi Abstract Background:, While the increased risk to parathyroid gland preservation has long been recognized during surgery for thyroid cancer, the effect of different benign pathological conditions on parathyroid preservation has not previously been reported. The aim of this study was to examine parathyroid viability in relation to autoimmune thyroid disease. Methods:, This is a retrospective cohort study including all patients having an initial total thyroidectomy (TT) performed by this unit during the period 2004,2005. Results:, A total of 628 patients underwent TT in the study period. For the Graves' disease cases, 45 (62.5%) required the autotransplantation of one or less parathyroid gland, whereas 27 (37.5%) required two or more glands to be autotransplanted. This was significantly higher than for the benign thyroid disease group in which the respective figures were 242 (77.6%) and 70 (22.4%) (P= 0.01). Of the lymphocytic thyroiditis cases, 61 (65.5%) required the autotransplantation of one or less gland, whereas 32 (34.4%) required the autotransplantation of two or more glands. This was also significantly higher (P= 0.03). Temporary hypocalcaemia was significantly higher when two or more glands were autotransplanted (23 out of 177, 13.2%) than one or less gland autotransplanted (18 out of 451, 4.0%, P < 0.01). However, the overall incidence of permanent hypoparathyroidism was 1.0%, and there was no significant difference between the groups. Conclusion:, TT performed for Graves' disease and lymphocytic thyroiditis results in the autotransplantation of more parathyroid glands, leading to a higher incidence of temporary hypocalcaemia post-operatively. Despite this, the incidence of permanent hypoparathyroidism remains low at 1%. [source] A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry diseaseAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2010Vesna Mirceva ABSTRACT Fabry disease is a rare, X-chromosome-linked lysosomal storage disease caused by a deficient ,-galactosidase A enzyme. The disease manifests primarily in affected hemizygous males and to some extent in heterozygous females (,carrier'). A 45-year-old female Fabry disease patient without angiokeratomas but with numerous angiomas is presented. Her leukocyte ,-galactosidase A activity was reduced (0.35 nmol/min/mg protein; normal range: 0.4,1). The analysis of her ,-galactosidase A gene (exon 1,7) showed the transition c.427 G>A. An intrafamilial follow-up search detected a reduced leukocyte ,-galactosidase A activity in her father, who suffered exclusively from coronary heart disease. Our case report underlines the possible wide range of clinical signs in Fabry disease patients, sometimes complicated by missing typical lesions (e.g. angiokeratomas). In oligosymptomatic Fabry disease cases, genetic analysis is recommended. [source] Stable isotope dilution analysis of N-acetylaspartic acid in urine by liquid chromatography electrospray ionization tandem mass spectrometryBIOMEDICAL CHROMATOGRAPHY, Issue 9 2007Osama Y. Al-Dirbashi Abstract N -acetylaspartic acid (NAA) is a specific urinary marker for Canavan disease, an autosomal recessive leukodystrophy. We developed a ,dilute and shoot' stable isotope dilution liquid chromatography tandem mass spectrometry (LC-MS/MS) method for determination of NAA in urine. Deuterated internal standard d3 -NAA was added to untreated urine and the mixture was injected into the LC-MS/MS system operated in the negative ion mode. Chromatography was carried out on a C8 minibore column using 50% acetonitrile solution containing 0.05% formic acid at a flow rate of 0.25 mL/min. The retention time was 1.6 min and the turnaround time was 2.2 min. NAA and d3 -NAA were analyzed in multiple reaction monitoring mode. Calibrators and quality control samples were prepared in pooled control urine. The assay was linear up to 2000 µmol/L with limit of quantification at 1 µmol/L (S/N = 12). Interassay and intraassay coefficients of variation were less than 7% and recovery at three different concentrations was 98.9,102.5%. The LC-MS/MS method for NAA as described involves no extraction and no derivatization, showed no interference and gave excellent recovery with low variability and short analytical time. The method was successfully applied for the retrospective analysis of urine from 21 Canavan disease cases. Copyright İ 2007 John Wiley & Sons, Ltd. [source] Clinical significance of pretreatment serum amphiregulin and transforming growth factor-,, and an epidermal growth factor receptor somatic mutation in patients with advanced non-squamous, non-small cell lung cancerCANCER SCIENCE, Issue 11 2008Katsuhiro Masago Circulating amphiregulin and transforming growth factor-, (TGF-,) have been found to be correlated with an unfavorable response to gefitinib based on the identification of patients with a higher probability of resistance to the drug. However, the association between an epidermal growth factor receptor (EGFR) somatic mutation and the overexpression of its ligands has not been determined. To verify the clinical significance of the two serum markers and EGFR mutation status, we determined serum amphiregulin and TGF-, levels by enzyme-linked immunosorbent assay in 93 patients with advanced non-squamous, non-small cell lung cancer and EGFR somatic mutation status using the peptic nucleic acid-locked nucleic acid clamp method in 46 cases. The relationship between each independent clinicopathological variable and the response to gefitinib therapy was examined. We also evaluated the risk factors associated with prognosis. Fourteen (41.0%) of 34 progressive disease cases were positive for amphiregulin (P = 0.007). Eleven (32.4%) of 34 progressive disease cases were positive for TGF-, (P = 0.005). The median survival time of patients with the EGFR somatic mutation was significantly longer (P = 0.01). The same was true of amphiregulin- (P = 0.046) and TGF-,-negative patients (P < 0.01). In multivariate analysis, serum TGF-, positivity (hazard ratio, 2.558; P = 0.005) and the wild type EGFR gene (hazard ratio, 1.894; P = 0.003) were significant independent prognostic factors. Our study demonstrates that the status of the serum EGFR ligand, in addition to EGFR activating mutation, is a predictive factor for response to gefitinib therapy. (Cancer Sci 2008; 99: 2295,2301) [source] 2111: Adaptive optics imaging in hereditary macular diseasesACTA OPHTHALMOLOGICA, Issue 2010K NAKASHIMA Purpose This research aimed at exploring and characterizing differences in vivo between healthy and pathology retinas, hereditary macular diseases at the microscopic scale using a compact adaptive optics (AO) retinal camera and high resolution OCT. Methods Seven RP patients, Cone-rod dystrophies (3), Stargardt diseases (5), Occult macular dystrophies (4) and indeterminate macular dystrophies (4) had undergone en face retinal imaging by AO camera "rtx1" (Imagine Eyes, France). AO images were taken at the eccentricities from 0 deg to 6 deg temporal and nasal from fovea. Each patient was examined using high resolution spectral domain (SD)-OCT and infrared SLO (Spectralis OCT). Results Cellular-resolution images could be obtained in most cases. In inherited retinal dystrophies, AO helped to better evaluate losses of cone cells across the retina. Other microstructures, slightly larger in size than cones, were also visible in several pathological retinas. Hereditary macular disease cases showed loss of cone mosaics. Some of these cases, there were patchy areas of increased reflectance. In Cone rod dystrophy and some other cases, the RPE mosaic was visible where cone had disappeared. Conclusion Cellular-resolution images could be obtained in most cases. In inherited retinal dystrophies, AO helped to better evaluate losses of cone cells across the retina. Other microstructures, slightly larger in size than cones, were also visible in several pathological retinas. Hereditary macular disease cases showed loss of cone mosaics. Some of these cases, there were patchy areas of increased reflectance. In Cone rod dystrophy and some other cases, the RPE mosaic was visible where cone had disappeared. [source] Manifestation of Coats' disease by age in TaiwanCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 4 2007Chien-Hsiung Lai MD Abstract Background:, To compare the differences in clinical manifestation of Coats' disease between younger and older patients in the Far East. Methods:, Coats' disease cases diagnosed at one Taiwanese hospital from July 1986 to June 2004 were retrospectively reviewed (n = 30; 32 eyes). Patients were stratified into groups according to the initial diagnosis of Coats' disease at the age of <20 years (Group Y) or ,20 years (Group O). The clinical manifestations of Coats' disease in Group Y (19 eyes) and Group O (13 eyes) were compared. Results:, A higher proportion of female patients was noted in Group O (P = 0.046). Diseases were generally limited geographically, with 14 eyes (73.7%) manifesting involvement greater than 6 clock hours in Group Y and four eyes (30.8%) in Group O. The involved area including retinal telangiectasia and exudates was smaller in Group O (P = 0.016). Patients without posterior pole involvement were associated with better visual outcome (adjusted odds ratio, 6.5; 95% confidence interval, 1.1,40.1, P = 0.044). Conclusion:, Coats' disease manifestation was different between different age groups. Treatment is important to prevent disease progression. Visual prognosis is associated with posterior pole involvement. [source] Clinical and genetic features of human prion diseases in Catalonia: 1993,2002EUROPEAN JOURNAL OF NEUROLOGY, Issue 10 2004R. Sanchez-Valle We describe the clinical and genetic characteristics of the 85 definite or probable human prion diseases cases died between January 1993 and December 2002 in Catalonia (an autonomous community of Spain, 6 million population). Seventy-three (86%) cases were sporadic Creutzfeld-Jakob diseases (sCJD) (49 definite, 24 probable), with a median age at onset of 66 years. The clinical presentation was dementia in 29 cases, ataxia in 14 and visual symptoms in five. The median survival was 3 months. The 14-3-3 assay was positive in 93% cases, 62% presented periodic sharp wave complexes (PSWC) in EEG but only 18% the typical signs on MRI. Forty-eight sCJD were studied for codon 129 PRNP polymorphism: 69% were methionine/methionine (M/M), 14.5% valine/valine (V/V) and 16.5% M/V. Six out of seven V/V cases did not present PSWC and in two survival was longer than 20 months. Eleven cases (13%) were genetic: five familial fatal insomnia and six familial CJD (fCJD). Up to four (67%) fCJD lacked family history of disease, two presented seizures early at onset and one neurosensorial deafness. The only iatrogenic case was related to a dura mater graft. No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases. [source] | |||||||||||||