Heterozygous apolipoprotein C-II deficiency: lipoprotein and apoprotein phenotype and RsaI restriction enzyme polymorphism in the Apo C-IIPadova kindred.

Abstract:

:Deficiency of apolipoprotein C-II (apo C-II), the cofactor for lipoprotein lipase, results in the familial chylomicronaemia syndrome characterized by severe hypertriglyceridaemia and fasting chylomicronaemia. To investigate the biochemical features of the heterozygous state for apo C-II deficiency, we characterized the lipid, lipoprotein and apolipoprotein profiles in 18 relatives of two affected individuals (brother and sister) homozygous for the apo C-IIPadova gene defect which results in the synthesis of a truncated 36 amino acid apolipoprotein. Carrier status was established in first degree relatives as well as in seven non-obligate heterozygotes by restriction enzyme analysis of amplified apo C-II genomic DNA using RsaI. No significant differences in lipid, lipoprotein and apo C-II levels were observed in heterozygotes when compared to unaffected family members. Thus, in this study, the carrier state was not associated with hypertriglyceridaemia or reduced plasma levels of apo C-II. However, analysis of amplified DNA from members of the apo C-IIPadova kindred by digestion with the enzyme RsaI, which identifies the mutant apo C-II, permitted the identification of heterozygous family members which could not be recognized by measuring either fasting triglycerides or plasma apo C-II levels. This study provides further evidence that apo C-II deficiency syndrome is a heterogeneous disease not only at the molecular level but also on the clinical ground with variable phenotypic expression in heterozygous individuals from different kindreds.

journal_name

Eur J Clin Invest

authors

Gabelli C,Bilato C,Santamarina-Fojo S,Martini S,Brewer HB Jr,Crepaldi G,Baggio G

doi

10.1111/j.1365-2362.1993.tb00960.x

subject

Has Abstract

pub_date

1993-09-01 00:00:00

pages

522-8

issue

9

eissn

0014-2972

issn

1365-2362

journal_volume

23

pub_type

杂志文章
  • Modelling the resource implications of managing adults with Fabry disease in Italy.

    abstract:AIMS:This study estimated the resource implications and budget impact of managing adults with Fabry disease in Italy, from the perspective of the Servizio Sanitario Nazionale (SSN). METHODS:A decision model was constructed using published clinical outcomes and clinician-derived resource utilisation estimates depicting...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/j.1365-2362.2010.02458.x

    authors: Guest JF,Concolino D,Di Vito R,Feliciani C,Parini R,Zampetti A

    更新日期:2011-07-01 00:00:00

  • Plasma angiopoietin-1, angiopoietin-2 and Tie-2 in breast and prostate cancer: a comparison with VEGF and Flt-1.

    abstract:BACKGROUND:Angiogenesis is essential for tumour growth and metastasis, and is coordinated by several classes of growth factors mediating their effect through receptors linked, in turn, to tyrosine kinase. These growth factors include angiopoietin-1 (Ang-1), angiopoietin-2 (Ang-2) and vascular endothelial growth factor ...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1046/j.1365-2362.2003.01243.x

    authors: Caine GJ,Blann AD,Stonelake PS,Ryan P,Lip GY

    更新日期:2003-10-01 00:00:00

  • Peripheral loss of CD8(+) CD161(++) TCRVα7·2(+) mucosal-associated invariant T cells in chronic hepatitis C virus-infected patients.

    abstract:BACKGROUND:Mucosal-associated invariant T (MAIT) cells play an important role in innate host defence. MAIT cells appear to undergo exhaustion and are functionally weakened in chronic viral infections. However, their role in chronic hepatitis C virus (HCV) infection remains unclear. MATERIALS AND METHODS:We investigate...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/eci.12581

    authors: Barathan M,Mohamed R,Vadivelu J,Chang LY,Saeidi A,Yong YK,Ravishankar Ram M,Gopal K,Velu V,Larsson M,Shankar EM

    更新日期:2016-02-01 00:00:00

  • Cardiovascular response to lower body negative pressure stimulation before, during, and after space flight.

    abstract:BACKGROUND:It is well known that space travel cause post-flight orthostatic hypotension and it was assumed that autonomic cardiovascular control deteriorates in space. Lower body negative pressure (LBNP) was used to assess autonomic function of the cardiovascular system. METHODS:LBNP tests were performed on six crew-m...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1046/j.1365-2362.2000.00750.x

    authors: Baisch F,Beck L,Blomqvist G,Wolfram G,Drescher J,Rome JL,Drummer C

    更新日期:2000-12-01 00:00:00

  • Quinidine reduces biliary clearance of digoxin in man.

    abstract::Quinidine is known to reduce the renal clearance of digoxin, but this effect does not completely explain the influence of quinidine on the total clearance of digoxin. We therefore studied the effect of quinidine administration on biliary clearance of digoxin in five patients with atrial fibrillation. Biliary clearance...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/j.1365-2362.1987.tb01246.x

    authors: Angelin B,Arvidsson A,Dahlqvist R,Hedman A,Schenck-Gustafsson K

    更新日期:1987-06-01 00:00:00

  • New p53 mutations in hilar cholangiocarcinoma.

    abstract:BACKGROUND:Inactivation of the tumour suppressor gene, p53, is the commonest genetic abnormality in human cancer. The study of the type of p53 mutation in a given tumour may provide prognostic information, clues to aetiology and become useful for therapeutics. MATERIALS AND METHODS:The molecular characterisation of p5...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1046/j.1365-2362.2000.00717.x

    authors: Tullo A,D'Erchia AM,Honda K,Kelly MD,Habib NA,Saccone C,Sbisà E

    更新日期:2000-09-01 00:00:00

  • Low-normal thyroid function and the pathogenesis of common cardio-metabolic disorders.

    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

    authors: van Tienhoven-Wind LJ,Dullaart RP

    更新日期:2015-05-01 00:00:00

  • Influence of atherosclerosis on age-related changes in renal size and function.

    abstract:BACKGROUND:Renal size and function reflect the health of the kidney. These parameters are associated with age, gender and body weight. The kidneys are also influenced by micro- and macrovascular diseases. Atherosclerotic markers and risk factors may influence the age-related changes of renal size and function. METHODS...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1046/j.1365-2362.2003.01091.x

    authors: Bax L,van der Graaf Y,Rabelink AJ,Algra A,Beutler JJ,Mali WP,SMART Study Group.

    更新日期:2003-01-01 00:00:00

  • Bile synthesis in rat models of inflammatory bowel diseases.

    abstract:BACKGROUND:A broad spectrum of hepatobiliary disorders are found in patients with inflammatory bowel diseases. The aim of the present work was to study interactions between gut and liver in experimental rat models of colitis and small bowel inflammation. MATERIALS AND METHODS:Colitis was induced either by trinitrobenz...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/j.1365-2362.2007.01779.x

    authors: Dikopoulos N,Schmid RM,Bachem M,Buttenschoen K,Adler G,Chiang JY,Weidenbach H

    更新日期:2007-03-01 00:00:00

  • Mild portal endotoxaemia induces subacute hepatic inflammation and pancreatic beta-cell dysfunction in rats.

    abstract:BACKGROUND:Portal endotoxaemia has been speculated to be crucially involved in the pathogenesis of chronic hepatic inflammation, which is highly associated with the development of type 2 diabetes mellitus. This study tests whether portal endotoxaemia is a pathogenic link between chronic subacute hepatic inflammation an...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/j.1365-2362.2008.01991.x

    authors: Hsieh PS,Chan JY,Shyu JF,Chen YT,Loh CH

    更新日期:2008-09-01 00:00:00

  • Sympathetic activation in cardiovascular disease: evidence, clinical impact and therapeutic implications.

    abstract:BACKGROUND:The sympathetic nervous exerts a key role in cardiovascular homeostasis control by regulating cardiac output, systemic vascular resistance, heart rate and blood pressure. MATERIALS AND METHODS:Data collected during the past 30 years have unequivocally shown that in a considerable number of cardiovascular as...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章,评审

    doi:10.1111/eci.12553

    authors: Grassi G,Seravalle G,Mancia G

    更新日期:2015-12-01 00:00:00

  • Acute insulin administration does not affect plasma leptin levels in lean or obese subjects.

    abstract::Whether leptin levels are related to insulin sensitivity or subject to acute regulation by insulin is not known. In 12 obese [body mass index (BMI) = 34.0 +/- 1.5 kg m-2] and 12 lean (BMI = 22.2 +/- 0.6 kg m-2) non-diabetic subjects, plasma leptin concentrations were measured in the fasting state and during 2 hours of...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/j.1365-2362.1996.tb02142.x

    authors: Muscelli E,Camastra S,Masoni A,Baldi S,Sironi AM,Natali A,Ferrannini E

    更新日期:1996-10-01 00:00:00

  • Procion orange tracer dye technique vs. identification of intrafibrillar fibronectin in the assessment of sarcolemmal damage.

    abstract:BACKGROUND:The use of Procion orange dye (POD) is one of the most widely accepted techniques to assess sarcolemmal damage. This phenomenon has been related to functional adaptation in skeletal muscles. The POD method includes intravenous injection of this colorant in vivo, enabling its identification inside those fibre...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1046/j.1365-2362.2002.01005.x

    authors: Palacio J,Gāldiz JB,Alvarez FJ,Orozco-Levi M,Lloreta J,Gea J

    更新日期:2002-06-01 00:00:00

  • Cholecystokinin receptor antagonist loxiglumide modulates plasma levels of gastro-entero-pancreatic hormones in man. Feedback control of cholecystokinin and gastrin secretion.

    abstract::The effect of the potent specific cholecystokinin (CCK) receptor antagonist loxiglumide on meal-stimulated plasma concentrations of CCK, gastrin, pancreatic polypeptide (PP), neurotensin, glucose-dependent insulinotropic polypeptide (GIP), insulin and C peptide was investigated in a placebo-controlled study in 10 heal...

    journal_title:European journal of clinical investigation

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1365-2362.1991.tb01402.x

    authors: Schmidt WE,Creutzfeldt W,Höcker M,Nustede R,Choudhury AR,Schleser A,Rovati LC,Fölsch UR

    更新日期:1991-10-01 00:00:00

  • Proposed mechanism of induction of gastric carcinoids: the gastrin hypothesis.

    abstract::Novel, powerful and long-acting inhibitors of gastric acid secretion include second generation H2-blockers and so-called proton pump inhibitors, such as omeprazole. Gastric carcinoids were found to develop in experimental animals as a consequence of continuous long-term administration of several of these highly effect...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2362.1990.tb01780.x

    authors: Håkanson R,Sundler F

    更新日期:1990-10-01 00:00:00

  • Alcohol consumption alters insulin secretion and cardiac autonomic activity.

    abstract:BACKGROUND:Alcohol may have a cardioprotective effect. One possible mechanism is by modifying insulin resistance/secretion. The aims of this study were: (i) to examine the effect of short-term alcohol consumption on the metabolic control of glucose tolerance; (ii) to study the influence of short-term alcohol consumptio...

    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.1365-2362.2002.00970.x

    authors: Flanagan DE,Pratt E,Murphy J,Vaile JC,Petley GW,Godsland IF,Kerr D

    更新日期:2002-03-01 00:00:00

  • Effects of pancreatic polypeptide on motilin and circulating metabolites in man.

    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

    authors: Adrian TE,Greenberg GR,Barnes AJ,Christofides ND,Alberti KG,Bloom SR

    更新日期:1980-06-01 00:00:00

  • Distribution and determinants of C-reactive protein in the older adult population: European Prospective Investigation into Cancer-Norfolk study.

    abstract:BACKGROUND:C-reactive protein (CRP) is a well-documented predictor of cardiovascular diseases and mortality. We aimed to better understand the distribution and determinants of CRP in the population. MATERIALS AND METHODS:Study participants were men and women aged 40-79 in the UK-based EPIC-Norfolk population-based coh...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/eci.12116

    authors: Ahmadi-Abhari S,Luben RN,Wareham NJ,Khaw KT

    更新日期:2013-09-01 00:00:00

  • Enterohepatic cycling of bilirubin as a cause of 'black' pigment gallstones in adult life.

    abstract::In contrast to bile salts, which undergo a highly efficient enterohepatic circulation with multiple regulatory and physiologic functions, glucuronic acid conjugates of bilirubin are biliary excretory molecules that in health do not have a continuing biologic life. Intestinal absorptive cells are devoid of recapture tr...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2362.2003.01214.x

    authors: Vítek L,Carey MC

    更新日期:2003-09-01 00:00:00

  • Cellular microparticles: new players in the field of vascular disease?

    abstract::Microparticles are small membrane vesicles that are released from cells upon activation or during apoptosis. Cellular microparticles in body fluids constitute a heterogeneous population, differing in cellular origin, numbers, size, antigenic composition and functional properties. Microparticles support coagulation by ...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2362.2004.01355.x

    authors: Diamant M,Tushuizen ME,Sturk A,Nieuwland R

    更新日期:2004-06-01 00:00:00

  • Urinary proteomics in obstructive sleep apnoea and obesity.

    abstract:BACKGROUND:Obstructive sleep apnoea (OSA) is a common complication of obesity and can have a substantial negative impact on a patient's quality of life and risk of cardiovascular disease. The aim of this case-control study was to undertake discovery profiling of urinary peptides using capillary electrophoresis-mass spe...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/eci.12346

    authors: Seetho IW,Siwy J,Albalat A,Mullen W,Mischak H,Parker RJ,Craig S,Duffy N,Hardy KJ,Burniston JG,Wilding JP

    更新日期:2014-11-01 00:00:00

  • Hepatic uptake and intestinal absorption of bile acids in the rabbit.

    abstract::The existence of transporters for bile acids (BA) in liver and intestine has been well documented, but information is still needed as to their respective transport capacity. In the present investigation, we compared the hepatic and intestinal transport rates for BA, using perfused livers and intestines. The livers and...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/j.1365-2362.1994.tb01062.x

    authors: Aldini R,Roda A,Montagnani M,Polimeni C,Lenzi PL,Cerre C,Galletti G,Roda E

    更新日期:1994-10-01 00:00:00

  • Strength and endurance training lead to different post exercise glucose profiles in diabetic participants using a continuous subcutaneous glucose monitoring system.

    abstract:BACKGROUND:Although both strength training (ST) and endurance training (ET) seem to be beneficial in type 2 diabetes mellitus (T2D), little is known about post-exercise glucose profiles. The objective of the study was to report changes in blood glucose (BG) values after a 4-month ET and ST programme now that a device f...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1365-2362.2005.01573.x

    authors: Cauza E,Hanusch-Enserer U,Strasser B,Kostner K,Dunky A,Haber P

    更新日期:2005-12-01 00:00:00

  • Gemfibrozil-induced decrease in serum ubiquinone and alpha- and gamma-tocopherol levels in men with combined hyperlipidaemia.

    abstract:BACKGROUND:Low blood levels of antioxidants are associated with an increased risk of developing coronary artery disease. Lipophilic antioxidants are transported in lipoproteins, and hypolipidaemic therapy may therefore alter their blood concentrations. METHODS:The present randomized, placebo-controlled cross-over stud...

    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.1365-2362.1998.00262.x

    authors: Aberg F,Appelkvist EL,Bröijersén A,Eriksson M,Angelin B,Hjemdahl P,Dallner G

    更新日期:1998-03-01 00:00:00

  • Effect of oral prostaglandin E2 on DNA turnover in gastric and intestinal epithelia of the rat.

    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

    authors: Johansson C,Uribe A,Rubio C,Isenberg JI

    更新日期:1986-12-01 00:00:00

  • Determinants of the postpericardiotomy syndrome: a systematic review.

    abstract:BACKGROUND:Postpericardiotomy syndrome (PPS) is a common complication following cardiac surgery; however, the exact pathogenesis remains uncertain. Identifying risk factors of PPS might help to better understand the syndrome. The aim of this study was to provide an overview of existing literature around determinants of...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章,评审

    doi:10.1111/eci.12764

    authors: van Osch D,Nathoe HM,Jacob KA,Doevendans PA,van Dijk D,Suyker WJ,Dieleman JM

    更新日期:2017-06-01 00:00:00

  • The regulation of megakaryocyte polyploidization and its implications for coronary artery occlusion.

    abstract::Polyploidization is a distinctive feature of megakaryocyte differentiation. The physiological meaning and the regulation of this process are obscure. Megakaryocyte ploidy varies in normal biology and in disease. Here we review the evidence suggesting that ploidy changes may have a role in the determination of platelet...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2362.1993.tb00711.x

    authors: Erusalimsky JD,Martin JF

    更新日期:1993-01-01 00:00:00

  • Impact of centralized evaluation of bone marrow histology in systemic mastocytosis.

    abstract:BACKGROUND:Bone marrow (BM) histology/immunohistochemistry, KIT D816V mutation analysis and serum tryptase measurements are mandatory tools for diagnosis of systemic mastocytosis (SM). MATERIALS AND METHODS:Within the 'German Registry of Disorders on Eosinophils and Mast Cells', we identified 65 patients with SM who h...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/eci.12607

    authors: Jawhar M,Schwaab J,Horny HP,Sotlar K,Naumann N,Fabarius A,Valent P,Cross NC,Hofmann WK,Metzgeroth G,Reiter A

    更新日期:2016-05-01 00:00:00

  • Different pre-analytical techniques and the results of 50 g oral glucose challenge tests.

    abstract:OBJECTIVE:We aimed to analyse the pre-analytical process and its effect of 50 g of oral glucose challenge test results for screening gestational diabetes mellitus. RESEARCH DESIGN AND METHODS:The 50 g oral glucose challenge test was performed to 30 pregnant women, and the blood was collected as two samples for three t...

    journal_title:European journal of clinical investigation

    pub_type: 杂志文章

    doi:10.1111/eci.13481

    authors: Eldem S,Oskovi-Kaplan ZA,Engin-Ustun Y,Yilmaz C,Caglar AT,Ozgu-Erdinc AS

    更新日期:2020-12-22 00:00:00

  • Fungaemia in haematological malignancies: SEIFEM-2015 survey.

    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

    authors: Criscuolo M,Marchesi F,Candoni A,Cattaneo C,Nosari A,Veggia B,Verga L,Fracchiolla N,Vianelli N,Del Principe MI,Picardi M,Tumbarello M,Aversa F,Busca A,Pagano L,SEIFEM Group (Sorveglianza Epidemiologica Infezioni nelle Emopa

    更新日期:2019-05-01 00:00:00