Abstract:
:A new form of acute hepatic porphyria with double genetic defect--deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase--is described. Among 17 studied family members this double enzymatic deficiency was found in five individuals, deficiency of porphobilinogen deaminase in four, and deficiency of coproporphyrinogen oxidase in two. Only the proband had an attack of porphyria. Apart from the proband, all family members had normal urinary PBG excretion. Increased faecal coproporphyrin excretion was found in three people. The results obtained suggest that deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase can be inherited independently. coproporphyrinogen oxidase can be inherited independently.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Gregor A,Kostrzewska E,Tarczynska-Nosal S,Stachurska Hdoi
10.3109/07853899409147341subject
Has Abstractpub_date
1994-04-01 00:00:00pages
125-7issue
2eissn
0785-3890issn
1365-2060journal_volume
26pub_type
杂志文章abstract::Statins are the first-line choice in Lipid-lowering therapy to reduce cardiovascular risk. In a continuous attempt to optimise treatment success, there is a need for additional research on genes and related molecular pathways that can determine the efficacy and toxicity of lipid-lowering drugs. Several variations with...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2020.1800074
更新日期:2020-12-01 00:00:00
abstract::In a national Belgian nutritional study (the B.I.R.N.H. Study), the authors review how far the Belgian population is from the recommended nutritional goals and ideal serum cholesterol. They also make comparisons between genders and look at differences according to the linguistic background (French- or Dutch-speaking s...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853898909149946
更新日期:1989-06-01 00:00:00
abstract::Hypertension is a major cardiovascular risk factor with a multifactorial pathogenesis, including genetic and environmental factors. In addition to hypothesis-driven strategies, unbiased approaches such as genomics, proteomics, and metabolomics are useful tools to help unravel the pathophysiology of hypertension and as...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2012.660494
更新日期:2012-06-01 00:00:00
abstract::Immunocytochemical studies using antibodies to cytoskeletal proteins have provided conflicting data on the components of paired helical filaments (PHF), due solely to immunological cross-reactivities. To avoid such ambiguity, we developed a protein chemical approach to the identification of the PHF components. After t...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853898909149198
更新日期:1989-01-01 00:00:00
abstract::Aim: This meta-analysis study aimed to compare the efficacy and safety of TEVAR versus OCSR for TBAD patients.Methods: We systematically searched PubMed, EmBase, and the Cochrane library to identify studies compared the effectiveness of TEVAR and OCSR in TBAD patients from the inception up to July 2019. The summary re...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析
doi:10.1080/07853890.2019.1679874
更新日期:2019-01-01 00:00:00
abstract::Although food habits arc not stable and unchanging during a person's lifetime, a base for healthy food habits can be created in early childhood. Children's food habits can be assumed to be influenced by their parents' food habits and choices. The aim of this article is to review factors influencing food choice in chil...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.1999.11904396
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:To assess the relationship between the FRAX index and the Barthel index/MiniMental State Examination in older people. PATIENTS AND METHODS:Observational descriptive study. Demographic data, comorbidity, dependency and cognitive state, and risk of osteoporotic fracture were collected. RESULTS:A total of 375 ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2018.1505052
更新日期:2018-09-01 00:00:00
abstract::The associations between candidate gene polymorphisms and coronary heart disease (CHD) are complex as a consequence of pleiotropy, variation with age, selection due to the high lethality of the disease, and interactions with other genes and with environmental factors. Identification of the gene variants that contribut...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899608999109
更新日期:1996-10-01 00:00:00
abstract::Depression, among other mood disorders, represents one of the most common health problems worldwide, with steadily increasing incidence and major socio-economic consequences. However, since the knowledge about the underlying pathophysiological principles is still very scanty, depression and other mood disorders are cu...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853891003769957
更新日期:2010-05-06 00:00:00
abstract::Atrial fibrillation (AF) is associated with an increased risk of mortality and morbidity from stroke and thromboembolism. Endothelial damage or dysfunction may contribute to this increased risk of thromboembolism via the mediation of a prothrombotic or hypercoagulable state. However, the precise pathophysiological mec...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890903160726
更新日期:2009-01-01 00:00:00
abstract::Circadian rhythms are a cardinal feature of living organisms. The stereotypical organization of homeostatic, endocrine and behavioural variables around the 24-hour cycle constitutes one of the most conserved attributes among species. It is now well established that circadian rhythmicity is not a learned behaviour, but...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899709002457
更新日期:1995-08-01 00:00:00
abstract::The goals of this chapter are to provide a brief review of the biology of the protein C pathway and some of the features of the pathway that make it uniquely positioned to control microvascular coagulation and control the acute inflammatory response. Activated protein C works as an antithrombotic agent by inactivating...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/078538902321117823
更新日期:2002-01-01 00:00:00
abstract:AIM:Previous studies have shown that both triglyceride glucose (TyG) and haemoglobin glycation indexes (HGI) are predictors of cardiovascular risk. However, the prognostic value of TyG index and HGI in patients with type 2 diabetes mellitus (T2DM) and stable coronary artery disease (CAD) is not determined. METHODS:We ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2018.1523549
更新日期:2018-11-01 00:00:00
abstract::On average, 15,000 cases of measles occurred annually in Finland before the initiation of a vaccination programme in 1975. Because of insufficient activity, the vaccination coverage failed to reach the required level of over 90%, and cases continued to occur. The policy was revolutionized in 1982 by launching a projec...
journal_title:Annals of medicine
pub_type: 社论
doi:10.3109/07853899808999395
更新日期:1998-04-01 00:00:00
abstract::Regular presence and persistence of specific serum antibodies in Helicobacter pylori infection gives an excellent tool for diagnostic work. Eradication of the infection leads to gradual disappearance of the gastritis and decrease of specific serum antibodies. The fall of IgG and IgA antibody titres can be followed wit...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899509002477
更新日期:1995-10-01 00:00:00
abstract:BACKGROUND:Teriparatide is a potent anabolic agent for severe osteoporosis. OBJECTIVES:A primary objective of this retrospective study was to define the efficacy of teriparatide in terms of bone mineral density (BMD) changes and relief of back pain in clinical practice. METHODS:The patient population comprises 119 os...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2012.742560
更新日期:2013-05-01 00:00:00
abstract::Transvaginal ultrasonic monitoring of the lower uterine segment was performed in 15 pregnancies in which the mother had previously had three or more caesarean sections. The typical findings were thinning of the myometrium, asymmetric isthmal structures and ventral ballooning of the isthmus. An image of the other of th...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899009147256
更新日期:1990-04-01 00:00:00
abstract::Despite intensive research in spondyloarthritis pathogenesis, some important questions still remain unanswered, particularly concerning enthesis new bone formation. Several evidences suggest that it prevalently occurs by endochondral ossification, however it remains to identify factors that can induce and influence it...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890.2016.1243802
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND AND AIMS:Prospective data on development of venous obstruction after electrode implantation are limited. We performed a prospective study on 150 patients undergoing first pacemaker implantation. METHODS:Venographies at base-line and 6 months postimplantation in all patients, 50 patients included into a long...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802498961
更新日期:2009-01-01 00:00:00
abstract::We investigated the association of systolic and diastolic blood pressure and hypertension with two different manifestations of carotid atherosclerosis in a random population sample of 1165 Eastern Finnish men aged 42, 48, 54 or 60 years, examined in the Kuopio Ischaemic Heart Disease Risk Factor Study. Carotid atheros...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899109147926
更新日期:1991-02-01 00:00:00
abstract:INTRODUCTION:Inflammation is an important contributor to the development of chronic diseases. We examined whether a healthy Nordic diet, also called the Baltic Sea diet, associates with lower concentrations of inflammatory markers. METHODS:We used two independent cross-sectional studies: the DILGOM study including Fin...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2013.870020
更新日期:2014-03-01 00:00:00
abstract::In Europe around 1970 there were only a few small and often poorly known epidemiological studies on risk factors and the incidence of coronary heart disease. In order to enhance the utilization of the information contained in them, the Medical Clinic in Heidelberg offered uniform data analysis to qualifying contributi...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853898909149931
更新日期:1989-06-01 00:00:00
abstract::The question 'what is a pathogen?' derives from pathogen-centered views of microbial pathogenesis that invoke microbial characteristics to explain virulence. However, virulence cannot be an independent microbial variable since it is only expressed in a susceptible host. Hence, the question 'what is a pathogen?' cannot...
journal_title:Annals of medicine
pub_type: 社论
doi:10.1080/078538902317338580
更新日期:2002-01-01 00:00:00
abstract::Dementia of the Alzheimer type (AD) is clinically characterized by a progressive deterioration of intellect, memory, judgment, and abstract thinking. It is incurable, and causal therapy is not yet available. For the development of therapeutic drugs, valid animal models are needed that mimic the pathophysiological chan...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899809002606
更新日期:1998-12-01 00:00:00
abstract::Nitric oxide (NO), derived from the vascular endothelium and other cells of the cardiovascular system, has important roles in physiological regulation of blood flow and may have pathophysiological functions in cardiovascular disease. The mechanisms involved in NO-induced vasodilatation and cytotoxicity are briefly rev...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899509002593
更新日期:1995-06-01 00:00:00
abstract:AIMS:This investigation was designed to explore the role of IL-1RN genotype in unexplained infant deaths (including sudden infant death syndrome (SIDS)), non-infectious infant deaths, and infectious infant deaths, and to investigate whether IL-1RN genotype is related to the finding of organisms in normally sterile site...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890903325360
更新日期:2010-01-01 00:00:00
abstract::Leukotriene-forming enzymes are expressed within atherosclerotic lesions and locally produced leukotrienes exert pro-inflammatory actions within the vascular wall by means of cell surface receptors of the BLT and CysLT receptor subtypes. The migration and accumulation of inflammatory cells that follow leukotriene rece...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890600982737
更新日期:2006-01-01 00:00:00
abstract::The thoracolumbar junctional region (T10-L1) of the spine is a transitional zone, where more than half of the thoracic and lumbar fractures occur. In this presentation the origin of the pathoanatomical changes in the thoracolumbar junctional region of the spine is discussed in view of the previous studies. These studi...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853898909149222
更新日期:1989-10-01 00:00:00
abstract::This review highlights recent progress in our understanding of the beneficial effects of hormone replacement therapy (HRT) in cardiovascular disease (CVD). The fact that HRT is increasingly advocated has raised concern about possible adverse effects weighed against the potential benefits of HRT regimens. Both favourab...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899809002485
更新日期:1998-10-01 00:00:00
abstract::Amounts of serum lipids were determined in 10 women suffering from end-stage primary biliary cirrhosis (PBC) in order to evaluate the concentrations of and changes in very low density (VLDL), high density (HDL) lipoprotein cholesterol and apoprotein A-I before and after liver transplantation. The concentrations of som...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899209148340
更新日期:1992-04-01 00:00:00