Abstract:
:Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys). We identified a 46-year-old white female with severe hyperlipidaemia and the heterozygous apo E3/2* phenotype. Typical clinical characteristics of type III HLP, i.e. palmar xanthomas (orange-yellowish discolorations of the palmar creases) and tuberoeruptive xanthomas, were present in the patient. Without therapy the patient's serum triglycerides (1.098 mg dL(-1)), cholesterol (546 mg dL(-1)), very low-density lipoprotein (VLDL) cholesterol (372 mg dL(-1)) and the apo E concentration (25.0 mg dL(-1)) were distinctly elevated as well as her VLDL cholesterol to serum triglyceride (TG) ratio at 0.34 (normal ratio about 0.2). Direct sequencing of polymerase chain reaction (PCR)-amplified segments of the apo epsilon gene identified a thymine for cytosine (C-->T) exchange in the first base of codon 136 that is predictive for a Cys (TGC) for Arg (CGC) substitution in the encoded amino acid sequence. Two children, an 18-year-old female with the heterozygous apo E4/2* phenotype, a 25-year-old female with the heterozygous apo E3/2* phenotype and the 73-year-old father of the proband with the heterozygous apo E3/2* phenotype are also carriers of the rare mutant. The father has severe atherosclerosis and lipid values compatible with the diagnosis of type III HLP. The affected children have hyper/dyslipidaemia but as yet no clinical expression of the disease. We propose that in the analysed family this rare apo E2 (Arg-136-->Cys) variant is associated with late-onset dominance of type III HLP.
journal_name
Eur J Clin Investjournal_title
European journal of clinical investigationauthors
Feussner G,Albanese M,Mann WA,Valencia A,Schuster Hdoi
10.1046/j.1365-2362.1996.83232.xsubject
Has Abstractpub_date
1996-01-01 00:00:00pages
13-23issue
1eissn
0014-2972issn
1365-2362journal_volume
26pub_type
杂志文章abstract::Three different types of cardiovascular sequelae attributed to interferon therapy have been reported: arrhythmia, ischaemic heart disease and cardiomyopathy. We evaluated the left ventricular ejection fraction (LVEF) during alpha interferon therapy (3 MU administered subcutaneously three times a week for 6 months) in ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1995.tb01528.x
更新日期:1995-01-01 00:00:00
abstract::To determine the comparative value of serum Type III procollagen peptide (PIIIP) in paediatric and adult liver disease we have measured PIIIP in 201 healthy subjects (aged 1 day-77 years) and twenty-one children and five adults with chronic active hepatitis (CAH). Healthy children had significantly higher PIIIP levels...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1985.tb00147.x
更新日期:1985-04-01 00:00:00
abstract::The mucosal incorporation and clearance of a DNA precursor was examined in the rat stomach and intestine following oral treatment with natural prostaglandin E2 (PGE2) or 15(R) 15 methyl prostaglandin E2 (Me PGE2). Control groups received vehicle or pentagastrin. After five days of treatment animals were labelled with ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1986.tb02169.x
更新日期:1986-12-01 00:00:00
abstract:BACKGROUND:Thiopurines (TP) are widely used in the management of inflammatory bowel diseases. Side effects and inefficacy are a major concern as they lead to withdrawal of the drug. MATERIALS AND METHODS:Tools investigating TP metabolism are useful to avoid inadequate cessation of TP therapy. RESULTS:TP metabolism is...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2362.2010.02346.x
更新日期:2010-11-01 00:00:00
abstract:BACKGROUND:In obese subjects, chronic low-grade inflammation contributes to an increased risk of metabolic abnormalities, which are reversed by weight loss. Sustained weight loss, however, is difficult to achieve and more insight into dietary approaches on anti-inflammatory responses in obese subjects is needed. In thi...
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.1365-2362.2004.01414.x
更新日期:2004-11-01 00:00:00
abstract::We evaluated the influence of family history of hypertension on insulin sensitivity in lean and obese hypertensive subjects (H): 40 lean [body mass index (BMI) < or = 25 kg m-2] H with normotensive parents (F-), 50 lean H with one or two parents hypertensive (F+), 30 obese HF- (BMI > or = 30 kg m-2) and 35 obese HF+. ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1997.1700725.x
更新日期:1997-09-01 00:00:00
abstract:BACKGROUND:This study was conducted to determine the effects of fish oil administration on gene expression related to insulin, lipid and inflammation in women with polycystic ovary syndrome (PCOS). MATERIALS AND METHODS:This randomized, double-blind, placebo-controlled trial was conducted among 40 subjects with PCOS, ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,随机对照试验
doi:10.1111/eci.12893
更新日期:2018-03-01 00:00:00
abstract:BACKGROUND:Analytical statistics revealed a variety of risk factors for hypertension, but the complex interplay between different factors remains to be determined by more powerful statistical techniques. METHODS:Analytical as well as new, explorative statistical methods such as natural segmentation (k-means) and predi...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2003.01139.x
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:Subclinical hypothyroidism may adversely affect the development of cardiovascular disease (CVD). Less is known about the role of low-normal thyroid function, that is higher thyroid-stimulating hormone and/or lower free thyroxine levels within the euthyroid reference range, in the development of cardio-metabo...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/eci.12423
更新日期:2015-05-01 00:00:00
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journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/eci.12553
更新日期:2015-12-01 00:00:00
abstract::Fibromuscular dysplasia (FMD) is an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries, mostly involving renal and cervical arteries. As a result of better and more systematic screening, it appears that in...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/eci.13023
更新日期:2018-11-01 00:00:00
abstract::The effect of marine n-3 polyunsaturated fatty acids on proliferation of human T-cells in vitro was compared to other polyunsaturated, monounsaturated and saturated fatty acids. Monoenes and saturated fatty acids had little effect on T-cell proliferation. Eicosapentaenoic acid and docosahexaenoic acid exerted a strong...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1993.tb00750.x
更新日期:1993-02-01 00:00:00
abstract::The aim of this study was to assess the effect of intravenous dextran on bacterial translocation and intestinal vascular endothelial and epithelial barrier function after experimental partial hepatectomy. We determined systemic arterial pressure, enteric bacterial growth (proximal and distal small intestine and colon)...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1997.2030750.x
更新日期:1997-11-01 00:00:00
abstract::Renal extraction and renal plasma clearance of atrial natriuretic peptide from pigs with complete unilateral ureteral obstruction (UUO) and from intact anaesthetized pigs were determined from arteriovenous differences in plasma atrial natriuretic peptide and measured renal plasma flow. The effect of administration of ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1995.tb01556.x
更新日期:1995-04-01 00:00:00
abstract::Pancreatic polypeptide was infused intravenously in healthy fasting subjects at 1 pmol kg-1 (n = 7) and 4 pmol kg-1 min-1 (n = 10) producing plasma PP concentrations of 223 +/- 37 pmol/l (mean +/- SEM) and 891 +/- 64 pmol/l respectively. These levels are similar to and four-fold higher than those seen after a normal m...
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.1365-2362.1980.tb00026.x
更新日期:1980-06-01 00:00:00
abstract:BACKGROUND:Kinetic abnormalities of apolipoprotein B (apoB)-containing lipoproteins in noninsulin-dependent diabetes mellitus (NIDDM) remain poorly understood. To get further insight into these abnormalities we performed a stable isotope kinetic experiment comparing the metabolism of apoB-containing lipoproteins in mod...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:
更新日期:2000-08-01 00:00:00
abstract::We measured plasma sulphur amino acids in twenty-two patients with chronic renal failure and compared the findings with those obtained in twenty-two normal subjects. In fasting blood (08.00 hours) cysteine-homocysteine mixed disulphide was significantly increased in the renal patients, mean values (+/- SD) being 8.2 +...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1979.tb00888.x
更新日期:1979-08-01 00:00:00
abstract::Resealed erythrocytes are potential slow release carriers for drugs and enzymes. We have investigated carrier erythrocyte survival in human volunteers using gentamicin (G) as encapsulated cell marker; G was readily incorporated into red cells by hypo-osmotic dialysis (87% efficiency of incorporation) and did not exit ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1986.tb01305.x
更新日期:1986-02-01 00:00:00
abstract:BACKGROUND: Hyperlipidaemia, hyperglycaemia and hyperinsulinaemia, hallmarks of the postprandial state, have been also associated with increased oxidative stress and lipoprotein oxidation contributing to vascular injury and atherosclerosis. However, the specific links among metabolic disorders, postprandial state, ins...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2011.02558.x
更新日期:2012-01-01 00:00:00
abstract::The action of lecithin:cholesterol acyltransferase (LCAT) was studied on an abnormal lipoprotein (LP-X) rich in phosphatidylcholine and cholesterol from the plasma of patients with obstructive liver disease. 60 mg LP-X isolated free of other lipoproteins and subsequently labelled with 3H-cholesterol were incubated wit...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1977.tb01600.x
更新日期:1977-06-01 00:00:00
abstract::Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease associated with autoimmune disorders. The aetiology is unknown, although it has been suggested that the disease may be related to infectious agents. Previous studies revealed that sera from patients with PBC react against Mycobacterium gordonae. Th...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1997.1690724.x
更新日期:1997-08-01 00:00:00
abstract::It has been shown that the detection of tuberculostearic acid (TBSA) with gas chromatography-mass-spectrometry provides a highly specific, sensitive and rapid method for the diagnosis of various forms of tuberculosis. However, the need for complex and expensive equipment prevented the more widespread use of this metho...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1994.tb00975.x
更新日期:1994-02-01 00:00:00
abstract::Lipid and carbohydrate metabolism variables were studied in twenty-eight patients with chronic renal failure (mean GFR 7.7 +/- 2.5 ml/min) and uraemic symptoms. 71% of the patients had hypertriglyceridaemia (greater than or equal to 2.2 mmol/l). Total serum cholesterol was normal while VLDL cholesterol was high and al...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1979.tb00886.x
更新日期:1979-08-01 00:00:00
abstract:BACKGROUND:The acute-phase response and anaemia of chronic disease are characterized by hypoferraemia associated with an increased ferritin synthesis, which might be mediated by the activated cytokine cascade. METHODS:We examined the prolonged effects of isolated limb perfusion (ILP) with recombinant human tumour necr...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2362.1998.00323.x
更新日期:1998-07-01 00:00:00
abstract:OBJECTIVE:N(ε)-(carboxymethyl)lysine (CML) is one of the major advanced glycation end products in both diabetics and nondiabetics. CML depositions in the microvasculature have recently been linked to the aetiology of acute myocardial infarction and cognitive impairment in Alzheimer's disease, possibly related to local ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12599
更新日期:2016-04-01 00:00:00
abstract:BACKGROUND:Buerger's disease (BD) is a segmental occlusive vascular disease. The aim of this study was to detect functional changes in brachial artery and asymptomatic morphological changes in extra-cranial carotid arteries not affected by the disease process and to assess markers of inflammation and endothelial damage...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2006.01646.x
更新日期:2006-06-01 00:00:00
abstract::The urinary excretion of free light immunoglobulin chains IgG, IgA, and Fcγ fragment material has been estimated in 12 healthy individuals and 7 subjects with tubular or glomerular proteinuria. Measurements were carried out by immunochemical methods after separation of concentrated urinary immunoglobulin components by...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.1971.1.4.255
更新日期:1971-08-01 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::Administration of the murine IgG2a CD3 monoclonal antibody OKT3 exerts a transient nephrotoxic effect. Increased levels of group II secretory phospholipase A2 (sPLA2-II) might account for this nephrotoxicity as sPLA2-II induces the biosynthesis of prostaglandins, vasoactive lipid mediators that influence glomerular ha...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1996.tb02132.x
更新日期:1996-10-01 00:00:00
abstract::In a comparative study in pigs the extent of myocardial infarction has been estimated following a temporary three hour coronary occlusion and following a permanent coronary ligation. For evaluation of the cellular injury the infarct size has been determined by a histochemical staining procedure and correlated with ser...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1976.tb00487.x
更新日期:1976-01-30 00:00:00