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Disease Only (disease + only)
Selected AbstractsHaemorheology in Gaucher diseaseEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2005Bridget E. Bax Abstract:, In Gaucher disease, a deficiency of glucocerebrosidase results in the accumulation of glucocerebroside within the lysosomes of the monocyte,macrophage system. Prior to the availability of enzyme replacement therapy (ERT), splenectomy was often indicated for hypersplenism. Haemorheological abnormalities could be expected in view of the anaemia and abnormal lipid metabolism in these patients and the role of the spleen in controlling erythrocyte quality. Objectives: To investigate the effect of Gaucher disease on blood and plasma viscosity, erythrocyte aggregation and erythrocyte deformability, and to determine whether observed rheological differences could be attributed to splenectomy. Methods: Haematological and haemorheological measurements were made on blood collected from 26 spleen-intact patients with Gaucher disease, 16 splenectomised patients with Gaucher disease, 6 otherwise healthy asplenic non-Gaucher disease subjects and 15 healthy controls. Results: No haemorheological differences could be demonstrated between spleen-intact patients with Gaucher disease and the control group. Compared to controls, both asplenic Gaucher disease and asplenic non-Gaucher disease study groups had a reduced MCHC (P = 0.003 and 0.005, respectively) and increased whole blood viscosity at 45% haematocrit (Hct), relative viscosity and red cell aggregation index , all measured at low shear (P < 0.05 for all). Additionally, asplenic patients with Gaucher disease alone showed an increased MCV (P = 0.006), an increased whole blood viscosity at 45% Hct measured at high shear (P = 0.019), and a reduced relative filtration rate (P = 0.0001), compared to controls. Conclusion: These observations demonstrate a direct and measurable haemorheological abnormality in Gaucher disease only revealed when there is no functioning spleen to control erythrocyte quality. [source] Hilar cholangiocarcinoma: diagnosis and stagingHPB, Issue 4 2005William Jarnagin Cancer arising from the proximal biliary tree, or hilar cholangiocarcinoma, remains a difficult clinical problem. Significant experience with these uncommon tumors has been limited to a small number of centers, which has greatly hindered progress. Complete resection of hilar cholangiocarcinoma is the most effective and only potentially curative therapy, and it now clear that concomitant hepatic resection is required in most cases. Simply stated, long-term survival is generally possible only with an en bloc resection of the liver with the extrahepatic biliary apparatus, leaving behind a well perfused liver remnant with adequate biliary-enteric drainage. Preoperative imaging studies should aim to assess this possibility and must evaluate a number of tumor-related factors that influence resectability. Advances in imaging technology have improved patient selection, but a large proportion of patients are found to have unresectable disease only at the time of exploration. Staging laparoscopy and 13fluoro-deoxyglucose positron emission tomography (FDG-PET) may help to identify some patients with advanced disease; however, local tumor extent, an equally critical determinant of resectability, may be underestimated on preoperative studies. This paper reviews issues pertaining to diagnosis and preoperative evaluation of patients with hilar biliary obstruction. Knowledge of the imaging features of hilar tumors, particularly as they pertain to resectability, is of obvious importance for clinicians managing these patients. [source] Association of polymorphisms in the interleukin-18 gene in patients with Crohn's disease depending on the CARD15/NOD2 genotypeINFLAMMATORY BOWEL DISEASES, Issue 12 2005Jürgen Glas MD Abstract Background: An increased expression of interleukin-18 (IL-18), a proinflammatory cytokine inducing interferon-,, has been found in Crohn's disease (CD). In the IL-18 gene, several partly functional relevant polymorphisms are known. This study sought to investigate associations of IL-18 polymorphisms in inflammatory bowel disease and CD according to CARD15/NOD2 mutation status and clinical phenotypes. Methods: The IL-18 polymorphisms ,607, ,137, and the third position of codon 35 (c35/3) were genotyped in 210 patients with CD, 140 patients with ulcerative colitis, and 265 healthy controls using polymerase chain reaction and restriction fragment length polymorphism analysis. Results: Frequencies of alleles and genotypes of the 3 polymorphisms and of the respective haplotypes and diplotypes displayed no significant differences between the whole groups of patients with CD and ulcerative colitis, respectively, compared with the controls. After stratification of patients with CD for CARD15/NOD2 status, significant associations of genotypes ,137 CC (P = 0.018) and c35/3 CC (P = 0.010) and of the diplotype 2-2 (P = 0.018) were found in cases carrying CARD15/NOD2 mutations. Associations of genotypes ,137 GG (P = 0.015) and c35/3 AA (P = 0.030) with colonic disease only in cases positive for CARD15/NOD2 mutations and of the genotype ,607 AA (P = 0.007) with fistulas in cases negative for CARD15/NOD2 mutations were observed. Conclusions: In this study, significant differences of several genotypes and diplotypes within the IL-18 gene in CD depending on CARD15/NOD2 status have been found. In context with an increased expression of IL-18 in CD, it remains to be shown whether the expression of IL-18 is influenced by CARD15/NOD2 mutation status. [source] Is susceptibility to tuberculosis acquired or inherited?JOURNAL OF INTERNAL MEDICINE, Issue 2 2007E. Schurr Abstract. Tuberculosis is an ongoing major public health problem on a global scale. One of the striking features of the disease is that only an estimated 10% of immunocompetent persons infected by the causative pathogen Mycobacterium tuberculosis will develop clinical signs of disease. This well-established epidemiological observation has prompted an intense search for the factors that trigger advancement of infection to disease in the small proportion of susceptible individuals. Central to this search is the questions if tuberculosis patients are inherently susceptible to the disease or if disease development is promoted by specific environmental factors. It is known that genetic and non-genetic factors of both the bacterium and the host have impact on the host response to M. tuberculosis. Yet, little is known about the interaction of these different factors and the resulting impact on disease development. Recent work suggests that in addition to common host susceptibility genes a second group of susceptibility loci exists the action of which strongly depends on the individual's clinical and exposure history. The latter genes may have a very strong effect on promoting advancement from infection to disease only in specific epidemiological settings. These findings suggest that a more detailed knowledge of gene,environment interactions in tuberculosis is necessary to understand why a small proportion of individuals are susceptible to the disease whilst the majority of humans are naturally resistant to tuberculosis. [source] Renovascular imaging in the NSF EraJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 6 2009Giles Roditi MD Abstract The detection of the association between nephrogenic systemic fibrosis (NSF), a rare but potentially life-threatening disease only encountered in patients with severely impaired renal function, and the previous administration of some Gd-chelates has cast a shadow on the administration of Gd-chelates in patients with chronic renal failure. So far, contrast-enhanced MR-angiography (MRA) was considered the best diagnostic modality in patients with suspected renal disease. This review explores the most appropriate use of renal MRA with a focus on newly developed nonenhanced MRA techniques. Nonenhanced MRA techniques mainly based on SSFP with ECG-gating allow for acceptable spatial resolution to visualize at least the proximal parts of the renal arteries. In addition functional renal imaging techniques and their current clinical role are critically appreciated. J. Magn. Reson. Imaging 2009;30:1323,1334. © 2009 Wiley-Liss, Inc. [source] Review article: Helicobacter pylori -negative duodenal ulcer diseaseALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 8 2009J. P. GISBERT Aliment Pharmacol Ther,30, 791,815 Summary Background,Helicobacter pylori infection rates in duodenal ulcer (DU) patients may be lower than previously estimated. Aim, To review the real prevalence of H. pylori -negative DUs and its possible causes. Methods, Bibliographical searches in MEDLINE looking for the terms ,H. pylori' and ,duodenal ulcer'. Results, Mean prevalence of H. pylori infection in DU disease, calculated from studies published during the last 10 years including a total of 16 080 patients, was 81%, and this figure was lower (77%) when only the last 5 years were considered. Associations with H. pylori -negative DU were: (1) False negative results of diagnostic methods, (2) NSAID use (21% in studies with <90% infection rate), (3) Complicated DU (bleeding, obstruction, perforation), (4) Smoking, (5) Isolated H. pylori duodenal colonization, (6) Older age, (7) Gastric hypersecretion, (8) Diseases of the duodenal mucosa, (9) Helicobacter,heilmanii' infection and (10) Concomitant diseases. Conclusion, In patients with H. pylori -negative DU disease, one should carefully confirm that the assessment of H. pylori status is reliable. In truly H. pylori -negative patients, the most common single cause of DU is, by far, the use of NSAIDs. Ulcers not associated with H. pylori, NSAIDs or other obvious causes should, for the present, be viewed as ,idiopathic'. True idiopathic DU disease only exceptionally exists. [source] Survival after recurrence of osteosarcoma: A 20-year experience at a single institutionPEDIATRIC BLOOD & CANCER, Issue 3 2006Brian D. Crompton MD Abstract Background Approximately one-third of patients with osteosarcoma who have a complete response to their initial treatment can be expected to relapse. It is important to define what host, tumor, or treatment characteristics determine outcome after relapse. We present findings in 59 patients treated at our institution from 1974 to 1996 who have relapsed one or more times after their initial response. Methods Host and tumor characteristics at diagnosis and relapse, therapeutic interventions and survival outcomes were determined from examination of medical records and a follow-up questionnaire. Results Of the 59 patients, 37 initially presented with localized disease of the extremity, 11 with localized non-extremity disease, and 11 with metastatic disease. This report focuses on those with localized disease of the extremity. For these patients, median time from original diagnosis to first recurrence was 14 months. Median survival after first recurrence was 31 months. The median post initial relapse survival was the same for patients whose first relapse occurred before or after 14 months from original diagnosis. Seventeen of 29 patients with systemic metastasis at first recurrence had complete removal of their disease and had a median post-op survival of 2.5 years, while the remaining 12 patients with no surgery, had a median survival of 2 years. Of the 37 patients who presented with primary disease only in the extremities and relapsed: 31 died (2 more than 6 years from first recurrence) and 6 are alive from 6 to 24 years from first recurrence (5 without disease and 1 with disease). Three of the five disease-free survivors had three or more relapses. Conclusion With a long follow-up time, we found 15% of patients with relapsed osteosarcoma who originally presented with localized disease in the extremity are alive with no evidence of disease at 10 years from first recurrence (Kaplan,Meier estimate). Even patients with multiple relapses may have long-term disease-free survival after salvage therapy. Chemotherapy and time to first recurrence were unrelated to survival after relapse in this study. Complete surgical removal of metastatic disease may be important for long-term survival. Pediatr Blood Cancer 2006;47:255,259. © 2005 Wiley-Liss, Inc. [source] Comparison of susceptibility of various fish species to experimental infection with channel catfish virusAQUACULTURE RESEARCH, Issue 16 2009Wan-An Yuan Abstract Channel catfish virus (CCV) disease is an acute haemorrhagic disease in juvenile channel catfish (Ictalurus punctatus). To date channel catfish is the only species affected by natural outbreaks of the CCV but juvenile large mouth bass (Micropterus salmoides) and silurus (Silurus meriaionalis) have suffered high mortalities in recent years in China. Histopathological phenomenon of sick fish is similar to CCV disease, and the identified virus was CCV. In this report, the pathogenicity of infectious CCV was examined by infection trials on the first known host species, the channel catfish and other teleosts. Our results indicated that there were higher detection rates of CCV from large mouth bass and silurus fish. Channel catfish virus did not induce mortality in other cypriniformes, but histopathological studies revealed that carp might be infected by both bathing and intraperitoneal infection. No deaths, clinical or histopathological signs, were found in the six other species exposed by immersion or injection. Experimental infection studies confirm that CCV infect not only channel catfish but also other species (large mouth bass, silutus and carp). The outbreaks of CCV disease only occurred when the cultured temperature was above 25 °C. [source] An open-label, dose-ranging study of methotrexate for moderate-to-severe adult atopic eczemaBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2007S.C. Weatherhead Summary Background, Treatment options for moderate-to-severe atopic eczema are limited. Although methotrexate (MTX) is a widely used and effective treatment for psoriasis, there have been no previous prospective trials of its use in refractory atopic eczema, despite a few small, retrospective reports suggesting that it is a well-tolerated and effective treatment. Objectives, We have assessed the safety and efficacy of oral MTX in 12 adults with moderate-to-severe atopic eczema in an open-label, dose-ranging, prospective trial using objective outcome measures. Methods, All patients had previously received other second-line therapies and had disease only partially responsive to potent topical steroids and emollients. During the 24-week MTX treatment period, unrestricted use of standard topical therapy was permitted. We used an incremental MTX dose regime, starting at 10 mg per week (following a 5-mg test dose) and increasing by 2·5 mg weekly until response was achieved or treatment was limited by toxicity. Disease activity [six area six sign atopic dermatitis (SASSAD) score] was assessed every 4 weeks during treatment and 12 weeks after stopping MTX. The primary endpoint was 24-week change in disease activity. Results, On average, disease activity improved by 52% from baseline (95% confidence interval 45,60%). There were significant improvements in quality of life, body surface area affected and loss of sleep and itch scores. Global response was rated as ,marked improvement' in five of 12 and six of 12 patients, by investigators and patients, respectively. In all patients, the majority of improvement in disease activity was seen by week 12, and, interestingly, patients who had not responded well over this period despite reaching a dose of 15 mg weekly failed to improve with further dose escalation. Only one patient withdrew due to minor adverse effects. MTX was well tolerated by the remaining 11 patients, all of whom completed treatment, achieving a median dose of 15 mg weekly. Importantly, eight of nine patients had a persistent improvement 12 weeks after stopping MTX, with mean disease activity remaining 34% below baseline. Conclusions, We have shown that MTX is an effective, well-tolerated treatment for moderate-to-severe atopic eczema, and response appears to compare favourably with other second-line therapies. A randomized, controlled trial is now warranted. [source] Influence of surgical and postoperative treatment on survival in differentiated thyroid cancerBRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 5 2007C. I. Lundgren Background: The extent of thyroidectomy in patients with differentiated thyroid cancer (DTC) remains controversial. The aim of this study was to identify how surgical technique and postoperative treatments influence survival and locoregional recurrence in DTC. Methods: A nested case-control study was conducted in a cohort of 5123 patients diagnosed with DTC in Sweden between 1958 and 1987. One matched control subject was selected randomly for each patient who died from DTC. Details regarding surgery and postoperative treatments were obtained from medical records. The effect of treatment on survival was estimated by conditional logistic regression. Results: Patients not treated surgically had a poorer prognosis, but the risk of death from DTC was not affected by the choice of surgical technique. The extent of surgery influenced survival only in patients with TNM stage III disease. Locoregional recurrence resulted in a fivefold increased risk of death. Postoperative treatment was not associated with improved survival. Conclusion: In operated patients, the most important prognostic factor was complete removal of the tumour. The extent of removal of remaining thyroid tissue was of prognostic importance in stage III disease only. Adjuvant postoperative treatment did not influence the prognosis favourably. Copyright © 2007 British Journal of Surgery Society Ltd. Published by John Wiley & Sons, Ltd. [source] Host-specific toxins: effectors of necrotrophic pathogenicityCELLULAR MICROBIOLOGY, Issue 7 2008Timothy L. Friesen Summary Host-specific toxins (HSTs) are defined as pathogen effectors that induce toxicity and promote disease only in the host species and only in genotypes of that host expressing a specific and often dominant susceptibility gene. They are a feature of a small but well-studied group of fungal plant pathogens. Classical HST pathogens include species of Cochliobolus, Alternaria and Pyrenophora. Recent studies have shown that Stagonospora nodorum produces at least four separate HSTs that interact with four of the many quantitative resistance loci found in the host, wheat. Rationalization of fungal phylogenetics has placed these pathogens in the Pleosporales order of the class Dothideomycetes. It is possible that all HST pathogens lie in this order. Strong evidence of the recent lateral gene transfer of the ToxA gene from S. nodorum to Pyrenophora tritici-repentis has been obtained. Hallmarks of lateral gene transfer are present for all the studied HST genes although definitive proof is lacking. We therefore suggest that the Pleosporales pathogens may have a conserved propensity to acquire HST genes by lateral transfer. [source] Significance of complications of allergic diseases in young patients with interstitial cystitisINTERNATIONAL JOURNAL OF UROLOGY, Issue 2003TETSUO YAMADA Abstract Background: It was found that about one-half of interstitial cystitis (IC) patients have complications of allergic diseases. However, significance of the complications have not been studied. Patients and Methods: Thirty-four patients (age range 20 to 39 years old) meeting the diagnostic criteria of NIDDK established in 1987 were selected. Clinical allergic tests and significance of complications of allergic diseases were examined. Results: Eighty-six percent of young patients had complications of allergic diseases. In two patients, IC was a part of generalized allergic diseases. In 25 patients, IC was suggested to have some association with allergy. Of these 25 patients, there were alternating symptoms or proportionally changing symptoms of allergy and IC in 15 patients, and the number of eosinophils increased in six patients. Seven IC patients were considered to have developed allergic diseases only by chance without apparent association. Conclusions: Complications of allergic diseases are frequent, particularly in young IC patients. The results suggest the involvement of allergy in about 80% of IC patients with complications of allergic diseases. In only 6% of patients, IC was a part of generalized allergic disease. [source] | ||||||||||