Abstract:
:Fabry disease is an X-linked lysosomal storage disorder characterized by multi-organ dysfunction, including hearing loss - mainly sensorineural. The recent introduction of enzyme replacement therapy (ERT) has resulted in improvements in renal and cardiac function, pain and quality of life. One study has also suggested small improvements in high-frequency hearing. In this paper, we study the effect of ERT on hearing in patients in the Europe-wide database - the Fabry Outcome Survey (FOS). Twenty-six patients in FOS had pure-tone audiometry performed up to 6 months before starting ERT with agalsidase alpha and after a median of 12 months of treatment. We assessed changes in hearing thresholds, expressed as deviations from the 50th centile of the normal population (International Organization for Standardization ISO 7029) to correct for age-related non-specific hearing deterioration. Hearing did not change significantly in ears with normal hearing (less than 10 dB deviation from the 50th centile of ISO 7029) or those with severe hearing loss (more than 40 dB deviation from the 50th centile of ISO 7029) at baseline. In ears with a mild or moderate hearing loss at baseline, hearing thresholds, expressed as deviations from the normal 50th centile, improved significantly by 4-7 dB at most frequencies (P < 0.05). Agalsidase alpha stabilizes, and possibly improves, hearing in Fabry patients who have not already progressed to severe hearing loss. Further follow-up of these patients will determine the longer-term effects of ERT.
journal_name
Eur J Clin Investjournal_title
European journal of clinical investigationauthors
Hajioff D,Hegemann S,Conti G,Beck M,Sunder-Plassmann G,Widmer U,Mehta A,Keilmann Adoi
10.1111/j.1365-2362.2006.01701.xsubject
Has Abstractpub_date
2006-09-01 00:00:00pages
663-7issue
9eissn
0014-2972issn
1365-2362pii
ECI1701journal_volume
36pub_type
杂志文章,多中心研究abstract::ATPase activities were determined in haemolysed and dialysed erythrocytes and in haemoglobin-free membranes of twenty patients with essential hypertension and twenty normotensive controls. Ouabain-sensitive ATPase (Na-K-ATPase) activity of haemolysate but not that of membranes was decreased in hypertensives whereas ou...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1985.tb00170.x
更新日期:1985-08-01 00:00:00
abstract::The cellular mechanisms controlling adaptive intestinal mucosal hypo- and hyperplasia are poorly understood but changes in tissue polyamine levels and in the activity of the key enzymes controlling their synthesis (ornithine decarboxylase: ODC) and degradation (diamine oxidase: DAO) have been implicated. Therefore, in...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1987.tb01130.x
更新日期:1987-10-01 00:00:00
abstract:BACKGROUND:Obesity and related kidney diseases have become a global epidemic problem. However, the underlying pathogenesis of obesity-related renal diseases has not been clearly understood. In this study, we explored the link between renal volume (RV) determined by computed tomography (CT) and renal histology together ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12444
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:Clusterin (Apolipoprotein J), a plasma protein with cytoprotective and complement-inhibiting activities, localizes in the infarcted heart during myocardial infarction (MI). Recently, we have shown a protective effect of exogenous clusterin in vitro on ischaemically challenged cardiomyocytes independent of co...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2010.02345.x
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Nasal nitric oxide (nNO) values are reduced in patients with cystic fibrosis (CF). Humming during nNO measurement increases nNO values in healthy subjects. Nasal NO is reduced in patients with CF, sinus disease or nasal polyps. Humming nNO values have not been reported in CF patients yet. Our aim was to expl...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2007.01758.x
更新日期:2007-02-01 00:00:00
abstract::Increased plasma levels of soluble adhesion molecules are associated with an increased risk of atherothrombosis. The pathophysiological mechanisms responsible for these associations are not known. The aim of the present study was to investigate the association of soluble intercellular adhesion molecule-1 (sICAM-1) con...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2002.00919.x
更新日期:2002-01-01 00:00:00
abstract::Based on pathophysiological findings Lp(a) is considered to be a cardiovascular risk factor. The Göttingen Risk Incidence and Prevalence Study (GRIPS) provides the possibility to evaluate this impact of Lp(a) on the basis of a large prospective cohort study. GRIPS included 6002 men, aged 40-59.9 years at baseline. Dat...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1994.tb02373.x
更新日期:1994-07-01 00:00:00
abstract:BACKGROUND:Fungal infections are still a relevant challenge for clinicians involved in the cure of patients with cancer. We retrospectively reviewed charts of hospitalized patients with haematological malignancies (HMs), in which a documented fungaemia was diagnosed between January 2011 and December 2015 at 28 adult an...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,多中心研究
doi:10.1111/eci.13083
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Acute hyperglycaemia is known to inhibit jejunal interdigestive motility. This study was undertaken to establish the effects of hyperglycaemia on fed jejunal motility and small intestinal transit time, and to establish if the effects of hyperglycaemia are mediated in part by hyperinsulinaemia. METHODS:Nine ...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2362.1998.00240.x
更新日期:1998-01-01 00:00:00
abstract::To examine the possible effects of hyperoxalaemia on anaerobic metabolism and erythrocyte pyruvate kinase activity, we induced a rise in plasma oxalate in 11 dialysis patients by the oral administration of ascorbic acid, 500 mg day-1 for 3 weeks. Blood samples were taken from the same antecubital vein before and after...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1990.tb01878.x
更新日期:1990-08-01 00:00:00
abstract::Flow cytometry was used to study phagocytic function and release of reactive oxygen intermediates (ROI) following phagocytosis by granulocytes in 14 patients (six female, eight male) with gram-negative septicaemia prior to, during, and after therapy compared with a group of healthy controls. Phagocytic capacity was as...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1995.tb01723.x
更新日期:1995-06-01 00:00:00
abstract:OBJECTIVE:To investigate alterations in endothelial nitric oxide synthase and inducible nitric oxide synthase mRNA expressions and nitric oxide release in the myocardium during ischaemia/reperfusion and determine whether these changes are ischaemic and/or reperfusion dependent. MATERIALS AND METHODS:Isolated rat heart...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2005.01553.x
更新日期:2005-09-01 00:00:00
abstract::Deoxyribonucleic acid synthesis requires adequate cellular concentrations of the four deoxyribonucleoside triphosphates. Using a sensitive enzymic assay, we have measured the concentrations (pools) of these compounds in human bone marrow cells and in lymphocytes. The mean concentrations (pmol/10(6) cells) in normal hu...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1975.tb00446.x
更新日期:1975-04-01 00:00:00
abstract:BACKGROUND:Fat tissue is a common material for autologous transplantation in plastic and reconstructive surgery. Basic fibroblast growth factor (bFGF) ameliorates the fat graft survival. A transplantation model has shown the gene expression of matrix metalloproteinases (MMPs) to increase in adipocytes. The aim of this ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2008.02023.x
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND:Hepatocytes are polarized epithelial cells with three morphologically and functionally distinct membrane surfaces: the sinusoidal, lateral and canalicular surface domains. These domains differ from each other in the expression of integral proteins, which concur to their polarized functions. We hypothesize th...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2010.02273.x
更新日期:2010-05-01 00:00:00
abstract::Levels of free anti-(xanthine oxidoreductase) (XOR) antibodies in the serum of normal healthy human subjects were determined, using both human and bovine enzyme as antigen, in an enzyme-linked immunosorbent assay (ELISA). Levels of IgM class anti-(human XOR) antibodies were found to be particularly high (mean values r...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1997.1550704.x
更新日期:1997-07-01 00:00:00
abstract::In twenty-five outpatients with essential hypertension, the relevance of renal kallikrein excretion for inter-individual differences in the blood pressure response to changes in dietary sodium intake was investigated. The patients were studied during 2 weeks of high (300 mmol) and 2 weeks of low (50-100 mmol) sodium i...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2362.1985.tb00160.x
更新日期:1985-06-01 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive, irreversible loss of cardiac and skeletal muscular function. Muscular enlargement in DMD is attributed to oedema, due to the increased cytoplasmic Na+ concentration. The aim of this review was to present the current experien...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/eci.12843
更新日期:2017-12-01 00:00:00
abstract:BACKGROUND:Bone marrow-derived circulating progenitor cells (BM-CPCs) are mobilized into adult peripheral blood (PB) during acute myocardial infarction (AMI) and may contribute to the regeneration of infarcted myocardium. The purpose of the present study is to determine whether mobilization of BM-CPCs into PB depends o...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2007.01876.x
更新日期:2007-11-01 00:00:00
abstract:BACKGROUND:Angiotensin converting enzyme 2 (ACE2), a monocarboxylase that degrades angiotensin II to angiotensin 1-7, is also the functional receptor for severe acute respiratory syndrome (SARS) coronavirus (SARS-CoV) and is highly expressed in the lungs and heart. Patients with SARS also suffered from cardiac disease ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2009.02153.x
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Na+,K(+)-ATPase activity was evaluated in relation to membrane composition and molecular organization in erythrocyte membranes from obese patients by the amphyphylic molecule 6-dodecanoyl-2-dimethylamino-naphthalene (Laurdan). Its possible relationship with fat distribution and hyperinsulinaemia was also inv...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1999.00458.x
更新日期:1999-05-01 00:00:00
abstract:BACKGROUND:Diacylglycerols (DAGs), which are well-known components of insect lipophorins, have been recently recognized as a major glyceride of human high-density lipoprotein (HDL). Moreover, DAGs are good substrates for hepatic lipase and for the phospholipid transfer protein (PLTP). The present work was undertaken to...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1999.00438.x
更新日期:1999-02-01 00:00:00
abstract::The concentration in serum of cathodal trypsinogen has been studied in certain clinical and experimental situations. The concentration correlated with pancreatic amylase activity. Low levels were found in patients with malabsorption due to exocrine pancreatic insufficiency. The concentration rose after endoscopic retr...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1978.tb00868.x
更新日期:1978-12-01 00:00:00
abstract:BACKGROUND:Studies in different animal models and plasma analyses in humans suggest that members of the interleukin-6 (IL-6) cytokine family may be involved in the pathogenesis of congestive heart failure (CHF). Accordingly, we have examined IL-6-related cytokines in chronic CHF in humans by analysing gene and protein ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2001.00795.x
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Immunosuppression associated with surgery may predispose to increased tumour growth or recurrence. Lymphocytes are central components of the immune network, signalling specific and non-specific responses in tumour immunosurveillance. This study was therefore designed to compare the effects of minimally invas...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2362.2000.00622.x
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND:The aetiology of inguinal hernia includes changes in collagen turnover and metalloproteinase (MMP) expression, and direct hernia has been linked to increased MMP-2 expression. Since transforming growth factor beta1 (TGFbeta1) plays a role in tissue remodelling, this growth factor could directly affect metall...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2007.01816.x
更新日期:2007-06-01 00:00:00
abstract::Lactose malabsorption, by the breath hydrogen test, and lactose intolerance (presence of symptoms) were studied in twenty healthy Italian subjects after intake of 12.5, 25 and 50 g lactose, whole milk and low-lactose milk. A rise in respiratory concentration of hydrogen (greater than 20 ppm) (malabsorption) was found ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1983.tb00098.x
更新日期:1983-06-01 00:00:00
abstract::Microvascular research is seriously hampered by the great temporal and spatial variability of the measured skin blood flow and variation in sympathetic vasomotor reflexes within and between persons. Therefore skin vasomotor reflexes were studied before and after ulnar nerve blockade within the same person, resulting i...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1995.tb01738.x
更新日期:1995-07-01 00:00:00
abstract:BACKGROUND:Observational studies have shown that high levels of serum uric acid (UA) were associated with atrial fibrillation (AF). However, the causal effect of urate on the risk of AF is still unknown. To clarify the potential causal association between UA and AF, we performed a Mendelian randomization (MR) analysis ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.13300
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:The pathogenesis of tumour formation in the anterior pituitary including adrenocorticotropic hormone (ACTH)-secreting tumours has been intensively studied, but the causative mechanisms involved in pituitary cell transformation and tumourigenesis remain unclear. MATERIALS AND METHODS:We searched PubMed on an...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2362.2011.02621.x
更新日期:2012-06-01 00:00:00