Abstract:
:Deficient leucocyte sphingomyelinase activity has been demonstrated in a patient with the sea-blue histiocyte syndrome. Family studies revealed that two other cases previously diagnosed on clinical and histochemical criteria also had a pronounced diminution of sphingomyelinase activity. Both parents of the affected individuals were carriers of the disease as indicated by sphingomyelinase activity intermediate between normal and diseased subjects. Additional heteroxygous carriers were found among the siblings and other relatives of the patients. This family study supports further the hypothesis that the sea-blue histiocyte syndrome and chronic Niemann-Pick (Type B) disease are the same.
journal_name
Eur J Clin Investjournal_title
European journal of clinical investigationauthors
Fried K,Beer S,Krespin HI,Leiba H,Djaldetti M,Zitman D,Klibansky Cdoi
10.1111/j.1365-2362.1978.tb00860.xkeywords:
subject
Has Abstractpub_date
1978-08-01 00:00:00pages
249-53issue
4eissn
0014-2972issn
1365-2362journal_volume
8pub_type
杂志文章abstract:BACKGROUND:Recent studies in mice experimental models with acute ischaemic injury revealed that erythropoietin (EPO) has numerous tissue-protective effects in the heart, brain and kidneys. We therefore explored the tissue-protective properties of chronic EPO treatment in an experimental model of the db/db mouse with di...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2009.02165.x
更新日期:2009-09-01 00:00:00
abstract::Circulating immune complexes (ICs) were isolated by affinity chromatography and sucrose density gradient fractionation during acute and chronic hepatitis C virus (HCV) infection. Immunochemical and biomolecular studies showed that they basically consist of the virus component, IgG with specific anti-HCV activity and I...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1996.162317.x
更新日期:1996-06-01 00:00:00
abstract:BACKGROUND:Foetal growth monitoring is an essential component of prenatal care with postnatal impact. The aim of the study was to construct reference ranges for foetal biometric parameters in Greek foetuses and to compare them with previously published models. MATERIALS AND METHODS:Measurements from 1200 Greek foetuse...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12611
更新日期:2016-05-01 00:00:00
abstract::We have applied flow cytometry to the detection of activated platelets in patients with coronary heart disease. Paraformaldehyde-fixed platelets were incubated with one of the following monoclonal antibodies (MAbs): Bx-1 (anti-GP Ib), AP-2 (anti-GP IIb-IIIa complex), VH10 (anti-GMP-140, a glycoprotein of the alpha-gra...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1994.tb02426.x
更新日期:1994-02-01 00:00:00
abstract::Bradykinin infusion has been shown to improve glucose metabolism in non-insulin-dependent diabetic subjects (NIDD). Therefore, we tested the following hypothesis: inhibition of Kininase II, the bradykinin (BK) degrading enzyme, by captopril may also improve glucose metabolism in NIDD. Immediate effects of captopril on...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2362.1987.tb01141.x
更新日期:1987-10-01 00:00:00
abstract::Infusion of ethanol (0.6 g/kg body wt) caused marked hypoglycaemia in subjects fasted for 36 h. Previous administration of the alcohol dehydrogenase (ADH) inhibitor 4-methylpyrazole (4-MP, 7 mg/kg body wt i.v.) strongly suppressed the ethanol-induced hypoglycaemia. The rate of ethanol elimination was 84.6 mg/kg per ho...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2362.1977.tb01640.x
更新日期:1977-12-01 00:00:00
abstract::Exogenous intravenous infusions of control saline, somatostatin, motilin and somatostatin and motilin together were compared in normal volunteers for their effects on the rise of blood glucose following 50 g oral glucose and for their effects on gastric emptying and plasma hormone concentrations. All regulatory peptid...
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.1365-2362.1982.tb02241.x
更新日期:1982-08-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章
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更新日期:2016-04-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章
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更新日期:2000-05-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
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更新日期:2009-12-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2004.01318.x
更新日期:2004-03-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1988.tb01045.x
更新日期:1988-10-01 00:00:00
abstract::Fibronectin is a glycoprotein found in body fluids, loose connective tissue matrix and in basement membranes. Fibronectin in rheumatoid arthritis synovial fluid was immunologically indistinguishable from the plasma form, as shown by double-diffusion analysis. Fibronectin isolated from rheumatoid synovial fluid by affi...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1981.tb01842.x
更新日期:1981-06-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12151
更新日期:2013-11-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12165
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:Thyroid hormone has important effects on the cardiovascular system. The consequences of episodes of acute hypothyroidism on cardiac function have been investigated in only a few studies, and their results are inconclusive. Our objective was to investigate the effects of acute hypothyroidism on cardiac functi...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2009.02088.x
更新日期:2009-03-01 00:00:00
abstract::To diagnose hypolactasia, determination of lactase enzyme activity in small intestinal biopsy material is considered to be the golden standard. Because of its strongly invasive character and the sampling problems, alternative methods have been looked for. We analysed the 13C-glucose response in serum after consumption...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2001.00791.x
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:Genetic factors may be important in modifying heart size due to long-term athletic training. The significance of polymorphisms of genes of the renin-angiotensin system in myocardial mass in a population of athletes participating in different disciplines is not known. METHODS:The angiotensin I-converting enz...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2001.00886.x
更新日期:2001-10-01 00:00:00
abstract:BACKGROUND:Following cisplatin-based chemotherapy, survivors of testicular cancer have a high prevalence of cardiovascular risk factors and an increased risk of cardiovascular disease. Cardiac function has not been extensively studied and no comparisons have been made with men from the general population. DESIGN:Left ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2005.01460.x
更新日期:2005-02-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1996.tb02142.x
更新日期:1996-10-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2003.01091.x
更新日期:2003-01-01 00:00:00
abstract::Beta-thromboglobulin (beta TG), serotonin (5HT) and fibrinopeptide A (FPA) were assessed in twenty-two normal donors before, during, and at the end of leukapheresis. Seven procedures were carried out adding heparin to the circuit, and seven adding acetyl salicylic acid (ASA). The remaining eight procedures were carrie...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1985.tb00166.x
更新日期:1985-08-01 00:00:00
abstract:BACKGROUND:Apolipoprotein E epsilon4 allele has been associated with increased risk of coronary heart disease, and is also a major genetic susceptibility locus for Alzheimer's disease. Some studies have shown an association between apoE genotype and ischaemic stroke or outcome following stroke, while other studies have...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2001.00851.x
更新日期:2001-07-01 00:00:00
abstract::The formation of metabolites of arachidonic acid by the cyclo-oxygenase and lipoxygenase pathways were determined in human lung tissue, obtained from surgery. In this measurement the chopped tissue was incubated with the calcium ionophore A23187. Formation of metabolites from [1-14C] arachidonic acid was also determin...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1987.tb02195.x
更新日期:1987-08-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1984.tb02100.x
更新日期:1984-04-01 00:00:00
abstract::In order to study the mechanisms by which nutrients influence post-trauma metabolism, Sprague-Dawley rats received a 25% full-thickness burn and were randomly assigned to receive 12.5 g kg-1 bodyweight (BW) per day amino acids (AA) only, AA and 14.7 g hydrous glucose kg-1 BW per day or AA and 14.7 g hydrous xylitol kg...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1991.tb01818.x
更新日期:1991-04-01 00:00:00
abstract:BACKGROUND:Many studies have focused on the physiological parameters and genetic predisposition of subjects presenting both obesity and insulin resistance (IR) and it has been suggested that the peroxisome proliferator-activated receptor gamma 2 (PPARgamma2) Pro12Ala variant may contribute to the observed variability i...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2009.02198.x
更新日期:2009-11-01 00:00:00
abstract::Efficient fragmentation is the most important prerequisite for successful treatment of gallstones by extracorporeally induced shock waves. No data are available on the amount of energy necessary for stone disintegration and on the threshold energy below which no further fragmentation occurs. We therefore performed an ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1997.990648.x
更新日期:1997-03-01 00:00:00
abstract::Urine was collected in four healthy infants, born after 35-39 weeks of gestation. The collections were made for 24 h starting immediately after birth. Bile acids were extracted, separated into conjugate groups, solvolysed, hydrolysed and quantified by gas-liquid chromatography as methyl ester trimethylsilyl ether deri...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1982.tb02236.x
更新日期:1982-08-01 00:00:00
abstract:BACKGROUND:Excess of cardiovascular risk among patients with chronic inflammatory diseases has been attributed to increased arterial stiffness. Hypercholesterolaemia has been demonstrated to promote a low-grade inflammatory status. The objective of the present study was to define, in hypercholesterolaemia, the influenc...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2004.01345.x
更新日期:2004-05-01 00:00:00