Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.

Abstract:

:Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase. Common findings in CTX are tendon xanthomas, cataracts and progressive neurological dysfunction. Here, we characterize an adult female patient with tendon xanthomas and classic biochemical findings of CTX (i.e. high levels of bile alcohols and cholestanol and extremely low levels of 27-hydroxycholesterol in plasma). Additionally, sterol 27-hydroxylase activity in cultured monocyte-derived macrophages from this patient was <5% of normal. Sequencing the CYP27A1 gene uncovered that the patient is heterozygous for two previously undescribed base substitutions in exon 8, C478A and C479A, which are expected to affect the haeme-binding domain of the enzyme. When expressed in HEK293 cells, the corresponding protein had only 8% of normal enzymatic activity. No other mutation was found in the open reading frame of the CYP27A1 gene, intron-exon boundaries or in the 5'-untranslated region up to 5000 bp distal to the translational start site. Sequencing mRNA isolated from leucocytes from the patient revealed a 1 : 1 ratio of mutated and nonmutated species, with total mRNA levels that were not significantly different from the controls. It is concluded that the patient is heterozygous for two mutations affecting one allele of the CYP27A1 gene and with at least one additional yet undefined gene that is of critical importance for the activity of sterol 27-hydroxylase.

journal_name

J Intern Med

authors

Hansson M,Olin M,Floren CH,von Bahr S,van't Hooft F,Meaney S,Eggertsen G,Björkhem I

doi

10.1111/j.1365-2796.2007.01782.x

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

504-10

issue

5

eissn

0954-6820

issn

1365-2796

pii

JIM1782

journal_volume

261

pub_type

杂志文章
  • The growth hormone, prolactin and TSH response to TRH and L-dopa in patients with hyperprolactinaemia and a normal-sized sella turcica may denote a pituitary adenoma.

    abstract::Forty-one patients with hyperprolactinaemia and suspected prolactinomas were studied. Growth hormone (GH) and thyrotropin (TSH) secretory patterns after thyrotropin releasing hormone (TRH) were affected in the majority of patients. The disturbances were observed regardless of tumour size as indicated by the radiologic...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1365-2796.1990.tb00260.x

    authors: Brismar K,Hulting AL,Werner S

    更新日期:1990-11-01 00:00:00

  • Hip and distal arm fracture rates in peri- and postmenopausal insulin-treated diabetic females.

    abstract:OBJECTIVES:Hip and distal arm fractures are associated with osteoporosis in the postmenopausal female. In diabetic patients, bone mass has been found to be reduced leading to the hypothesis that diabetes is a risk factor for osteoporosis. Whether this has any clinical implication has only been sparsely elucidated. DES...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1994.tb01284.x

    authors: Melchior TM,Sørensen H,Torp-Pedersen C

    更新日期:1994-08-01 00:00:00

  • Predictors and mode of death over 5 years amongst patients admitted to the emergency department with acute chest pain or other symptoms raising suspicion of acute myocardial infarction.

    abstract:AIM:To describe the mortality and mode of death over 5 years, and factors associated with death amongst patients with acute chest pain. PATIENTS:All patients who came to the emergency department at Sahlgrenska Hospital in Göteborg with acute chest pain or other symptoms raising suspicion of acute myocardial infarction...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.1998.00244.x

    authors: Herlitz J,Karlson BW,Lindqvist J,Sjölin M

    更新日期:1998-01-01 00:00:00

  • Quality of lipid-lowering therapy in patients with ischaemic heart disease: a register-based study in 3477 patients.

    abstract:OBJECTIVE:To develop a method to evaluate routine management practices concerning lipid-lowering treatment in patients with ischaemic heart disease (IHD) in a large geographic area. DESIGN:A register-based study linking information on IHD with cholesterol levels and prescriptions on lipid-lowering medications by perso...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1365-2796.2003.01299.x

    authors: Kanstrup H,Lassen JF,Heickendorff L,Lauritzen T,Larsen ML

    更新日期:2004-03-01 00:00:00

  • Septic arthritis with Listeria monocytogenes during low-dose methotrexate.

    abstract::We describe a 22-year-old female with systemic lupus erythematosus and lymphopenia, who developed septic arthritis of the right knee with Listeria monocytogenes type 1/2 A, whilst on low-dose methotrexate (MTX). So far, septic arthritis due to this microorganism has been reported in two other patients treated with low...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2796.1998.00311.x

    authors: Jansen TL,van Heereveld HA,Laan RF,Barrera P,van de Putte LB

    更新日期:1998-07-01 00:00:00

  • Determinants of carotid intima-media thickness: a population-based ultrasonography study in eastern Finnish men.

    abstract::We investigated the determinants of maximal intima-media thickness of common carotid arteries in a population-based sample of 1224 Eastern Finnish men aged 42, 48, 54 or 60 years. A high-resolution B-mode ultrasonographic examination was performed as part of the Kuopio Ischaemic Heart Disease Risk Factor Study (KIHD)....

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1991.tb00336.x

    authors: Salonen R,Salonen JT

    更新日期:1991-03-01 00:00:00

  • Uric acid and risk of myocardial infarction, stroke and congestive heart failure in 417,734 men and women in the Apolipoprotein MOrtality RISk study (AMORIS).

    abstract:OBJECTIVES:Few studies have simultaneously analysed the influence of elevated serum uric acid (UA) on acute myocardial infarction (AMI), ischaemic and haemorrhagic stroke (IS, HS) and congestive heart failure (CHF) in large healthy populations. We, here, examine UA as a risk factor for AMI, stroke and CHF by age and ge...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2009.02133.x

    authors: Holme I,Aastveit AH,Hammar N,Jungner I,Walldius G

    更新日期:2009-12-01 00:00:00

  • Relationships between vitamin D, parathyroid hormone and bone mineral density in inflammatory bowel disease.

    abstract:OBJECTIVES:To explore the relationships between vitamin D intake, serum parathyroid hormone (PTH) and 25-hydroxyvitamin D (250HD) concentrations, and bone mineral density (BMD) in inflammatory bowel disease (IBD). SETTING:A university hospital clinic in Finland. SUBJECTS:One hundred and fifty randomly selected patien...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.1996.420765000.x

    authors: Silvennoinen J

    更新日期:1996-02-01 00:00:00

  • Multiple risk intervention trial in high risk hypertensive men: comparison of ultrasound intima-media thickness and clinical outcome during 6 years of follow-up.

    abstract:OBJECTIVES:The objective was to analyse whether a favourable change in risk factors, caused by a comprehensive risk factor modification programme, affected intima-media thickness (IMT) in the common carotid artery, and whether any such change was associated with a change in cardiovascular events during a 6-year follow-...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1365-2796.2001.00818.x

    authors: Agewall S,Fagerberg B,Berglund G,Schmidt C,Wendelhag I,Wikstrand J,Risk Factor Intervention Study Group, Sweden.

    更新日期:2001-04-01 00:00:00

  • Mucosal T-cell responses to HIV: responding at the front lines.

    abstract::Mucosal surfaces of the body serve as the major portal of entry for human immunodeficiency virus (HIV). These tissues also house a majority of the body's lymphocytes, including the CD4(+) T cells that are the major cellular target for HIV infection. Mucosal surfaces are defended by innate and adaptive immune mechanism...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2008.02042.x

    authors: Shacklett BL,Critchfield JW,Ferre AL,Hayes TL

    更新日期:2009-01-01 00:00:00

  • Hypoglycaemia caused by atypical insulin antibodies in a patient with benign monoclonal gammopathy.

    abstract::We describe a 48-year-old woman with recurrent severe hypoglycaemia apparently caused by a paraprotein with insulin-binding capacity. Very high fasting values were found for serum insulin (170 and > 250 mU l-1) as well as for proinsulin 125 pmol l-1 and an insulinoma was suspected. Hypoglycaemia developed after an ora...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1993.tb00766.x

    authors: Arnqvist HJ,Halban PA,Mathiesen UL,Zahnd G,von Schenck H

    更新日期:1993-10-01 00:00:00

  • Skeletal scintigraphy in coeliac disease.

    abstract::A patient with undiagnosed, long-standing coeliac disease had multiple hot spots on skeletal scintigraphy, similar to those observed in malignant disease metastatic to the skeleton. A gluten-free diet corrected the pathological laboratory values, and a repeat skeletal scintigram 15 months after the first one was norma...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1990.tb00252.x

    authors: Paul R

    更新日期:1990-10-01 00:00:00

  • A prospective study on antibody response to repeated vaccinations with pneumococcal capsular polysaccharide in splenectomized individuals with special reference to Hodgkin's lymphoma.

    abstract:BACKGROUND:Splenectomy is accompanied by a life-long risk of overwhelming postsplenectomy infection (OPSI), mainly caused by polysaccharide (PS) encapsulated bacteria such as Streptococcus pneumoniae. Despite extensive prophylactic efforts the mortality and morbidity rates remain high. The present study was based on a ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2004.01312.x

    authors: Landgren O,Björkholm M,Konradsen HB,Söderqvist M,Nilsson B,Gustavsson A,Axdorph U,Kalin M,Grimfors G

    更新日期:2004-06-01 00:00:00

  • Pseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56.

    abstract:PURPOSE:Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as illustrated in a large French PXE series of 220 cases. We searc...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/joim.13193

    authors: Legrand A,Pujol C,Durand CM,Mesnil A,Rubera I,Duranton C,Zuily S,Sousa AB,Renaud M,Boucher JL,Pietrancosta N,Adham S,Orssaud C,Marelli C,Casali C,Ziccardi L,Villain N,Ewenczyk C,Durr A,Mignot C,Stevanin G,Billon

    更新日期:2020-10-27 00:00:00

  • Diurnal blood pressure variations in normoalbuminuric type 1 diabetic patients.

    abstract:OBJECTIVE:To test the hypothesis that normoalbuminuric type 1 diabetic patients segregate into groups with normal and elevated ambulatory blood pressure. To evaluate diurnal variation of blood pressure assessed by individual or fixed night-time periods. DESIGN:Cross-sectional study. SETTING:Tertiary referral centre. ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1993.tb00727.x

    authors: Hansen KW,Pedersen MM,Christiansen JS,Mogensen CE

    更新日期:1993-08-01 00:00:00

  • Subacute cor pulmonale due to microscopic pulmonary tumour cell embolization.

    abstract::A case of a clinically occult ovarian carcinoma leading to subacute cor pulmonale in a 62-year-old woman is described. The patient was admitted to hospital with increasing respiratory distress. Physical examination and echocardiography showed signs of pulmonary hypertension. She died from circulatory failure. Autopsy ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1994.tb00852.x

    authors: Lambert-Jensen P,Mertz H,Nyvad O,Christensen JH

    更新日期:1994-11-01 00:00:00

  • Fatal adverse drug events: the paradox of drug treatment.

    abstract:OBJECTIVE:Study patient characteristics, morbidity patterns and drug regimens associated with fatal adverse drug events (FADEs) amongst medical department inpatients. DESIGN:An observational, descriptive study using aggregated medical records, autopsies and pre and postmortem drug analyses. SETTING:A department of in...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.2001.00892.x

    authors: Buajordet I,Ebbesen J,Erikssen J,Brørs O,Hilberg T

    更新日期:2001-10-01 00:00:00

  • Plasma ionized calcium and cardiovascular risk factors in mild primary hyperparathyroidism: effects of long-term treatment with active vitamin D (alphacalcidol).

    abstract::Primary hyperparathyroidism (HPT) has been associated with hypertension, hyperinsulinaemia, hypertriglyceridaemia and hyperuricaemia. In the present study, plasma ionized calcium (Ca2+) was studied in relation to cardiovascular risk factors in 20 subjects with mild hypertension. Plasma Ca2+ was found to be negatively ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1992.tb00955.x

    authors: Lind L,Wengle B,Lithell H,Ljunghall S

    更新日期:1992-04-01 00:00:00

  • Clinical relevance of pedal pulse palpation in patients suspected of peripheral arterial insufficiency.

    abstract::Previous studies in patients with peripheral arterial disease (PAD) have shown that the prognosis is relatively good when the distal systolic ankle index (ankle systolic pressure/arm systolic pressure) is above 50% and the distal toe systolic pressure is above 40 mmHg. In 132 patients suspected of PAD in the legs we i...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1989.tb01361.x

    authors: Christensen JH,Freundlich M,Jacobsen BA,Falstie-Jensen N

    更新日期:1989-08-01 00:00:00

  • Promotion of vascular integrity in sepsis through modulation of bioactive adrenomedullin and dipeptidyl peptidase 3.

    abstract::Sepsis represents one of the major medical challenges of the 21st century. Despite substantial improvements in the knowledge on pathophysiological mechanisms, this has so far not translated into novel adjuvant treatment strategies for sepsis. In sepsis, both vascular tone and vascular integrity are compromised, and co...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/joim.13220

    authors: van Lier D,Kox M,Pickkers P

    更新日期:2020-12-30 00:00:00

  • Medicine and science in the fight against doping in sport.

    abstract::The fight against doping in sports commenced as a result of the death of a Danish cyclist during the Rome Olympic Games in 1960. The International Olympic Committee (IOC) established a Medical Commission (IOC-MC) which had the task of designing a strategy to combat the misuse of drugs in Olympic Sport. Some Internatio...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2008.01993.x

    authors: Catlin DH,Fitch KD,Ljungqvist A

    更新日期:2008-08-01 00:00:00

  • Calcium absorption and calcium bioavailability.

    abstract::Calcium is important for bone health. It has been customary to focus on dietary calcium intake, but of central importance for the body needs in the individual patient is the actual calcium absorption. This absorption consists of an active vitamin D-mediated component and a passive diffusional component. A number of di...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.1992.tb00519.x

    authors: Charles P

    更新日期:1992-02-01 00:00:00

  • Association between plasma renin activity and metabolic cardiovascular risk factors in essential hypertension.

    abstract:OBJECTIVES:To study the relationships between plasma renin activity and metabolic cardiovascular risk factors in patients with essential hypertension. SUBJECTS AND DESIGN:Patients with uncomplicated essential hypertension (n = 36) with a diastolic blood pressure of 95-115 mmHg were studied. Assessment of plasma renin ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.1996.414756000.x

    authors: Allikmets K,Parik T,Teesalu R

    更新日期:1996-01-01 00:00:00

  • Health economic evaluation of treatments for Alzheimer's disease: impact of new diagnostic criteria.

    abstract::The socio-economic impact of Alzheimer's disease (AD) and other dementias is enormous, and the potential economic challenges ahead are clear given the projected future numbers of individuals with these conditions. Because of the high prevalence and cost of dementia, it is very important to assess any intervention from...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/joim.12167

    authors: Wimo A,Ballard C,Brayne C,Gauthier S,Handels R,Jones RW,Jonsson L,Khachaturian AS,Kramberger M

    更新日期:2014-03-01 00:00:00

  • Prevention of serious vascular events by aspirin amongst patients with peripheral arterial disease: randomized, double-blind trial.

    abstract:OBJECTIVE:To assess the prophylactic efficacy of aspirin and a high-dose antioxidant vitamin combination in patients with peripheral arterial disease (PAD) in terms of reduction of the risk of a first vascular event (myocardial infarction, stroke, vascular death) and critical limb ischaemia. DESIGN:Randomized, placebo...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1111/j.1365-2796.2006.01763.x

    authors: Critical Leg Ischaemia Prevention Study (CLIPS) Group.,Catalano M,Born G,Peto R

    更新日期:2007-03-01 00:00:00

  • Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: clinical opportunities.

    abstract::The ground-breaking discovery of genotype-phenotype relationships in hereditary medullary thyroid cancer has greatly facilitated early prophylactic thyroidectomy. Its timing depends not solely on a positive gene test but, more importantly, on the type of the REarranged during Transfection (RET) mutation and its underl...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2009.02113.x

    authors: Machens A,Lorenz K,Dralle H

    更新日期:2009-07-01 00:00:00

  • Brain regulation of food intake and appetite: molecules and networks.

    abstract::In the clinic, obesity and anorexia constitute prevalent problems whose manifestations are encountered in virtually every field of medicine. However, as the command centre for regulating food intake and energy metabolism is located in the brain, the basic neuroscientist sees in the same disorders malfunctions of a mod...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2005.01553.x

    authors: Broberger C

    更新日期:2005-10-01 00:00:00

  • Survival and trends of occurrence of left ventricular hypertrophy, gender differences, 1967-92: The Reykjavik Study.

    abstract:OBJECTIVE:We estimated the prevalence, incidence and risk factors of left ventricular hypertrophy (LVH) in a prospective cohort study of 26 489 participants. MATERIAL AND METHODS:The LVH was defined as Minnesota Code 310 on electrocardiogram (ECG). Everyone with this code at first visit was defined as a prevalence cas...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.2003.01111.x

    authors: Thrainsdottir IS,Hardarson T,Thorgeirsson G,Sigvaldason H,Sigfusson N

    更新日期:2003-04-01 00:00:00

  • The efficacy of multiple risk factor intervention in treated hypertensive men during long-term follow up. Risk Factor Intervention Study Group.

    abstract:OBJECTIVE:To examine the feasibility and efficacy of a multifactorial intervention programme directed towards hypercholesterolaemia, smoking, and diabetes mellitus in treated hypertensive patients after more than 3 years' follow-up and to describe the incidence of cardiovascular complications. DESIGN:Open, randomized,...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1365-2796.1994.tb00858.x

    authors: Agewall S,Wikstrand J,Samuelsson O,Persson B,Andersson OK,Fagerberg B

    更新日期:1994-12-01 00:00:00

  • Fulminant hepatitis with severe lactate acidosis in HIV-infected patients on didanosine therapy.

    abstract::We report two cases of fulminant hepatic failure in HIV-1-infected patients treated with didanosine (ddI). Clinical manifestations including vomiting, diarrhoea and dyspnoea were identical in both cases. Biological data mainly revealed hepatic failure and lactic acidosis. Histological examination of liver biopsies sho...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1994.tb01088.x

    authors: Bissuel F,Bruneel F,Habersetzer F,Chassard D,Cotte L,Chevallier M,Bernuau J,Lucet JC,Trepo C

    更新日期:1994-04-01 00:00:00