Inherited disorders of blood coagulation.

Abstract:

:Hemostasis is traditionally defined as a physiological response to blood vessel injury and bleeding, which entails a co-ordinated process involving the blood vessel, platelets, and blood clotting proteins (i.e. coagulation factors). Hemostasis can be divided into primary and secondary components. The former rapidly initiates after endothelial damage and is characterized by vascular contraction, platelet adhesion, and formation of a soft aggregate plug. The latter is initiated following the release of tissue factor and involves a complex sequence of events known as the blood coagulation cascade, encompassing serial steps where each coagulation factor activates another in a chain reaction that culminates in the conversion of fibrinogen to fibrin. Patients carrying abnormalities of the coagulation cascade (i.e. deficiencies of coagulation factors) have an increased bleeding tendency, where the clinical severity is mostly dependent upon the type and the plasma level of the factor affected. These disorders also impose a heavy medical and economic burden on individual patients and society in general. The aim of this article is to provide a general overview on the pathophysiology, clinics, diagnostics, and therapy of inherited disorders of coagulation factors.

journal_name

Ann Med

journal_title

Annals of medicine

authors

Lippi G,Franchini M,Montagnana M,Favaloro EJ

doi

10.3109/07853890.2011.576698

subject

Has Abstract

pub_date

2012-08-01 00:00:00

pages

405-18

issue

5

eissn

0785-3890

issn

1365-2060

journal_volume

44

pub_type

杂志文章,评审
  • Towards genomic drug therapy with antisense oligonucleotides.

    abstract::Antisense oligonucleotides represent a novel class of potential drugs for highly selective blocking of genes. The basic concept of antisense strategy is simple: an antisense molecule recognizes a complementary mRNA (or DNA) by sequence-specific base pairing, and hence prevents translation (or transcription), resulting...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853899608999115

    authors: Lönnberg H,Vuorio E

    更新日期:1996-12-01 00:00:00

  • Sleep and cardiac rhythm in healthy men.

    abstract::Cardiac rhythm during sleep was analysed in 168 healthy men aged 19 to 30 (mean 21.8) years using continuous nocturnal ECG recordings. Thirty five of the subjects were endurance athletes; 99 were recorded at home and 69 at a garrison during military service. The number of short term (less than one min) accelerations o...

    journal_title:Annals of medicine

    pub_type: 杂志文章

    doi:10.3109/07853899109148037

    authors: Viitasalo M,Halonen L,Partinen M,Iivanainen M,Kala R,Eisalo A

    更新日期:1991-04-01 00:00:00

  • The effectiveness of teriparatide in the clinical practice--attenuation of the bone mineral density outcome by increasing age and bisphosphonate pretreatment.

    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

    authors: Koski AM,Löyttyniemi E,Väänänen H,Laine H,Niskanen L,Nevalainen PI,Korpi-Hyövälti E,Välimäki MJ

    更新日期:2013-05-01 00:00:00

  • Sudden death as sole symptom of coronary arteritis.

    abstract::A 33-year old man suddenly dropped dead during a military march. He had complained of non-specific thoracoabdominal symptoms, pain and fatigue for a year before his death. Autopsy showed coronary polyarteritis nodosa of the left main coronary artery. This patient seems to be only the second case with isolated polyarte...

    journal_title:Annals of medicine

    pub_type: 杂志文章

    doi:10.3109/07853899009147262

    authors: Paul RA,Helle MJ,Tarssanen LT

    更新日期:1990-06-01 00:00:00

  • Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.

    abstract::The calcium-sensing receptor is a G protein-coupled receptor that has a key role in extracellular calcium homeostasis, regulating the secretion of parathyroid hormone and the reabsorption of urinary calcium appropriate to the prevailing calcaemic environment. Molecular abnormalities of the calcium-sensing receptor are...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Pearce SH

    更新日期:2002-01-01 00:00:00

  • Natural course of Finnish gelsolin amyloidosis.

    abstract:BACKGROUND:Finnish type of hereditary gelsolin amyloidosis (FGA) is one of the most common diseases of Finnish disease heritage. Existing FGA knowledge is based only on smaller patient series, so our aim was to elucidate the natural course of the disease in a comprehensive sample of patients and to build up a national ...

    journal_title:Annals of medicine

    pub_type: 杂志文章

    doi:10.3109/07853890.2015.1075063

    authors: Nikoskinen T,Schmidt EK,Strbian D,Kiuru-Enari S,Atula S

    更新日期:2015-01-01 00:00:00

  • Prosthetic osteomyelitis with special reference to the knee: risks, treatment and costs.

    abstract::The overall incidence of osteomyelitis following primary knee arthroplasty is 1-2%. Major risk factors are large prostheses, rheumatoid arthritis, postoperative wound-healing complications, skin infections, and prior deep infections. The major infecting organism is Staphylococcus aureus. Healing of the infection is to...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Bengtson S

    更新日期:1993-12-01 00:00:00

  • Clinical significance of antinuclear antibodies in systemic rheumatic diseases.

    abstract::Autoantibodies directed to intracellular antigens can be detected in many systemic rheumatic diseases. In this review, we discuss the clinical significance of antinuclear antibodies (ANA) associated with systemic lupus erythematosus (SLE), Slögren's syndrome, scleroderma and polymyositis/dermatomyositis, the immunogen...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853899608999081

    authors: Hietarinta M,Lassila O

    更新日期:1996-08-01 00:00:00

  • Chronic helminth infections modulate allergen-specific immune responses: Protection against development of allergic disorders?

    abstract::Inflammatory diseases are on the rise in westernized countries, but also in urbanized areas of developing countries. A number of studies have now demonstrated a negative association between helminth infections and inflammatory diseases, such as allergy, suggesting a potential role for helminth-induced immune responses...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.1080/07853890701436765

    authors: Smits HH,Yazdanbakhsh M

    更新日期:2007-01-01 00:00:00

  • Fat in the liver and insulin resistance.

    abstract::Insulin resistance in humans is not always accompanied by obesity, since severe insulin resistance also characterizes patients lacking subcutaneous fat such as those with HAART- (highly-active antiretroviral therapy)-associated lipodystrophy. Both obese and lipodystrophic patients, however, have an increase in the amo...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.1080/07853890510037383

    authors: Yki-Järvinen H

    更新日期:2005-01-01 00:00:00

  • Quantitative risk factors as indices of alcoholism susceptibility.

    abstract::Alcoholism is a complex disorder involving both genetic and environmental factors and interactions between them. Localizing and characterizing the genetic influences on susceptibility to alcohol dependence may provide new insights into pathology and new avenues for treatment and prevention. However, because of the com...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.1080/07853890310004903

    authors: Almasy L

    更新日期:2003-01-01 00:00:00

  • Systemic effects of controlled exposure to diesel exhaust: a meta-analysis from randomized controlled trials.

    abstract:INTRODUCTION:Ambient air pollution is associated with adverse cardiovascular events. This meta-analysis aimed to investigate the short-term association between air pollution and cardiovascular effects on healthy volunteers. METHODS:We searched databases to identify randomized trials with controlled human exposures to ...

    journal_title:Annals of medicine

    pub_type: 杂志文章,meta分析

    doi:10.1080/07853890.2016.1252054

    authors: Vieira JL,Macedo FY,Benjo AM,Guimarães GV,Contreras JP,Bocchi EA

    更新日期:2017-03-01 00:00:00

  • Vaginal contraceptive rings.

    abstract::Steroids diffuse through polysiloxone at a constant rate, and steroids placed in the vagina rapidly pass through the vaginal epithelium into the circulation. Combining these principles led to the development of contraceptive vaginal rings (CVR) consisting of various progestins, with and without oestrogen, placed in fl...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853899309164167

    authors: Mishell DR Jr

    更新日期:1993-04-01 00:00:00

  • MicroRNA: potential biomarkers and therapeutic targets for allergic asthma?

    abstract::MicroRNAs are small non-coding RNAs that bind to multiple target mRNAs to control gene expression post-transcriptionally by inhibiting translation. In mammalian cells, microRNAs play important roles in a diverse array of cellular processes (e.g. cell proliferation and differentiation). However, alterations in their le...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853890.2014.958196

    authors: Tay HL,Plank M,Collison A,Mattes J,Kumar RK,Foster PS

    更新日期:2014-12-01 00:00:00

  • Extensive phenotype data and machine learning in prediction of mortality in acute coronary syndrome - the MADDEC study.

    abstract::Objective: Investigation of the clinical potential of extensive phenotype data and machine learning (ML) in the prediction of mortality in acute coronary syndrome (ACS). Methods: The value of ML and extensive clinical data was analyzed in a retrospective registry study of 9066 consecutive ACS patients (January 2007 to...

    journal_title:Annals of medicine

    pub_type: 杂志文章

    doi:10.1080/07853890.2019.1596302

    authors: Hernesniemi JA,Mahdiani S,Tynkkynen JA,Lyytikäinen LP,Mishra PP,Lehtimäki T,Eskola M,Nikus K,Antila K,Oksala N

    更新日期:2019-03-01 00:00:00

  • Distribution of interleukin-1 receptor antagonist genotypes in sudden unexpected death in infancy (SUDI); unexplained SUDI have a higher frequency of allele 2.

    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

    authors: Highet AR,Berry AM,Goldwater PN

    更新日期:2010-01-01 00:00:00

  • Molecular mechanisms of mitochondrial diabetes (MIDD).

    abstract::Mitochondria provide cells with most of the energy in the form of adenosine triphosphate (ATP). Mitochondria are complex organelles encoded both by nuclear and mtDNA. Only a few mitochondrial components are encoded by mtDNA, most of the mt-proteins are nuclear DNA encoded. Remarkably, the majority of the known mutatio...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.1080/07853890510007188

    authors: Maassen JA,Janssen GM,'t Hart LM

    更新日期:2005-01-01 00:00:00

  • Factors influencing children's food choice.

    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

    authors: Hursti UK

    更新日期:1999-01-01 00:00:00

  • DQA1 and DQB1 heterodimers in insulin-dependent diabetes mellitus: a genetic-epidemiological study in Finland. DiMe Study Group.

    abstract::Susceptibility to insulin-dependent diabetes mellitus (IDDM) correlates with the absence of aspartic acid in position 57 of the DQB1 and/or the presence of arginine in position 52 of the DQA1. It has been postulated that transcomplementation between the DQ alpha and beta chains of the two haplotypes could create new m...

    journal_title:Annals of medicine

    pub_type: 杂志文章

    doi:10.3109/07853899209167007

    authors: Tuomilehto-Wolf E,Tuomilehto J,Hitman GA

    更新日期:1992-12-01 00:00:00

  • The fibromyalgia syndrome.

    abstract::The term fibromyalgia describes a complex syndrome characterized by pain amplification, musculoskeletal discomfort, and systemic symptoms. Although its existence has been controversial, nearly all rheumatologists now accept fibromyalgia as a distinct diagnostic entity. In fact, in the United States it is the third or ...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853899708998739

    authors: Wallace DJ

    更新日期:1997-02-01 00:00:00

  • Serum trace element concentrations and iron metabolism in allogeneic bone marrow transplant recipients.

    abstract::Serum trace element concentrations, parameters of iron metabolism and serum protein concentrations were investigated in thirteen adult recipients of bone-marrow transplants receiving total parenteral nutrition. Six of the patients died during the four weeks follow-up. Serum zinc concentrations were initially low but i...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853899209164145

    authors: Antila HM,Salo MS,Kirvelä O,Näntö V,Rajamäki A,Toivanen A

    更新日期:1992-02-01 00:00:00

  • Atrial fibrillation: pathophysiology and current therapy.

    abstract::Atrial fibrillation is a common cardiac arrhythmia with rapid and irregular atrial activity. Instead of uniformly contracting as one chamber, the atrial compartment fibrillates. Several studies have demonstrated that this arrhythmia contributes substantially to cardiac morbidity and mortality. The purpose of this revi...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853890.2011.554426

    authors: Miyazaki S,Shah AJ,Scherr D,Haïssaguerre M

    更新日期:2011-01-01 00:00:00

  • Adoption studies of schizophrenia.

    abstract::The understanding and treatment of schizophrenia have been greatly hampered by uncertainty about etiological factors and controversy about diagnostic boundaries. Adoption studies have helped clarify both of these problems. First, the adoptees study method, the index offspring of adopting-away schizophrenic biological ...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853899409147896

    authors: Tienari PJ,Wynne LC

    更新日期:1994-08-01 00:00:00

  • New treatment options for substance abuse from a public health viewpoint.

    abstract::Naltrexone is the first safe and effective pharmaceutical adjunct for use in the treatment of alcohol abuse. Theoretically it could be effective also as a means for terminating methadone maintenance and in the treatment of other forms of substance abuse. Two general types of protocols have been used with naltrexone. O...

    journal_title:Annals of medicine

    pub_type: 杂志文章

    doi:10.3109/07853899809029941

    authors: Sinclair JD

    更新日期:1998-08-01 00:00:00

  • HIF and oxygen sensing; as important to life as the air we breathe?

    abstract::Molecular oxygen (O2)is a basic requirement for cellular growth and viability and many aspects of anatomy and physiology are dedicated to achieving reliable distribution. Recent work has identified a specific sensing and response system, centred around a transcription complex called Hypoxia-inducible Factor 1 (HIF-1),...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.1080/0785389031000458233

    authors: Wiesener MS,Maxwell PH

    更新日期:2003-01-01 00:00:00

  • Hypercoagulability, D-dimer and atrial fibrillation: an overview of biological and clinical evidence.

    abstract::Atrial fibrillation (AF) is the most common among the severe cardiac arrhythmias and carries a significant risk of mortality and morbidity in the general population. The most important complication is represented by development of one or more thrombi in the left atrium of the dyskinetic heart, and their successive cer...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853890.2014.912835

    authors: Danese E,Montagnana M,Cervellin G,Lippi G

    更新日期:2014-09-01 00:00:00

  • Associations between sleep disturbances and diabetes mellitus among blacks with metabolic syndrome: Results from the Metabolic Syndrome Outcome Study (MetSO).

    abstract:INTRODUCTION:The association between sleep disturbances and cardiometabolic diseases has been understudied in blacks with metabolic syndrome. METHODS:This study is a cross-sectional analysis of the Metabolic Syndrome Outcome Study (MetSO) trial. We assessed insomnia symptoms, sleep duration, and risk for sleep apnea. ...

    journal_title:Annals of medicine

    pub_type: 杂志文章

    doi:10.3109/07853890.2015.1015601

    authors: Ramos AR,Wallace DM,Pandi-Perumal SR,Williams NJ,Castor C,Sevick MA,Mcfarlane SI,Jean-Louis G

    更新日期:2015-05-01 00:00:00

  • Cardiovascular Risk in Young Finns Study: general outline and recent developments.

    abstract::The Cardiovascular Risk in Young Finns Study is a collaborative effort of all university departments of paediatrics and several other institutions in Finland to study the risk factors of coronary heart disease (CHD) and their determinants in children and adolescents in different parts of the country. The main cross-se...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Akerblom HK,Viikari J,Raitakari OT,Uhari M

    更新日期:1999-04-01 00:00:00

  • The cytokine network in juvenile chronic arthritis.

    abstract::This is a brief overview of the cytokine network within juvenile chronic arthritis, introducing the concept of the production of T-helper 1 (TH-1) or TH2-cell differentiation as a result of cytokine production, as well as the concept of the balance between pro- and anti-inflammatory cytokines. The balance of TH1 and T...

    journal_title:Annals of medicine

    pub_type: 杂志文章,评审

    doi:10.3109/07853899709113701

    authors: Woo P

    更新日期:1997-04-01 00:00:00

  • The effects of canrenone on inflammatory markers in patients with metabolic syndrome.

    abstract:AIM:To evaluate the effects of canrenone compared to placebo on blood pressure control, some non-conventional biomarkers in cardiovascular stratification, and on metalloproteinases in patients affected by metabolic syndrome. METHODS:A total of 156 Caucasian patients were treated with placebo or canrenone, 50 mg once a...

    journal_title:Annals of medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.3109/07853890.2014.969303

    authors: Derosa G,Romano D,Bianchi L,D'Angelo A,Maffioli P

    更新日期:2015-02-01 00:00:00