Abstract:
:Hereditary nonpolyposis colorectal cancer (HNPCC) represents the most common form of genetic predisposition to colon cancer. Even in kindreds with several affected members it is, however, difficult to rule out chance clustering and other nonhereditary factors since colon cancer is so common in the general population. Similarly, it is impossible to distinguish individual patients with HNPCC from sporadic cases on clinical grounds since neither have polyposis or other specific physical signs. The localization of an HNPCC gene on chromosome 2 in May 1993 provided formal proof that HNPCC is a single gene (Mendelian) disorder. Instability at short tandem repeat sequences (microsatellites) was found to characterize HNPCC tumours. Positional and functional cloning strategies resulted in the identification of the HNPCC gene in December 1993. Interspecies homology suggests that the gene, hMSH2, functions in DNA mismatch repair. These findings provide a theoretical basis as well as practical tools to detect susceptibility to HNPCC cancers.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Peltomäki PTdoi
10.3109/07853899409147893subject
Has Abstractpub_date
1994-06-01 00:00:00pages
215-9issue
3eissn
0785-3890issn
1365-2060journal_volume
26pub_type
杂志文章abstract::Non-alcoholic fatty liver disease or NAFLD is a chronic liver condition characterized by hepatic steatosis and associated with insulin resistance and type 2 diabetes mellitus (T2DM). In many patients fat accumulation leads to steatohepatitis (NASH) with chronic necrosis, inflammation, and fibrosis, and eventually to t...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890802552437
更新日期:2009-01-01 00:00:00
abstract::This paper describes the responses of peripheral and central visceral nociceptive systems to acute injury and discusses these observations in relation to the concept of 'pre-emptive analgesia'. Visceral nociceptors are known to respond to injury but are also known to become sensitized to non-noxious stimuli during the...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899509031965
更新日期:1995-04-01 00:00:00
abstract::This paper reviews current diagnostic techniques for Helicobacter pylori infection and critically questions their value under different diagnostic circumstances. As long as we do not have general treatment recommendations for H. pylori infection, endoscopy is still the basis for primary diagnosis because it assesses t...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890109002063
更新日期:2001-03-01 00:00:00
abstract::Sleep and wakefulness are complex behaviors that are influenced by many genetic and environmental factors, which are beginning to be discovered. The contribution of genetic components to sleep disorders is also increasingly recognized as important. Point mutations in the prion protein, period 2, and the prepro-hypocre...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890500372047
更新日期:2005-01-01 00:00:00
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:
更新日期:1999-04-01 00:00:00
abstract::Introduction: The use of dipeptidyl peptidase-4 inhibitors in hospitalized patients is an area of active research. We aimed to compare the efficacy and the safety of the basal-bolus insulin regimen versus linagliptin-basal insulin in non-critically ill non-cardiac surgery patients in a real-world setting. Methods: We ...
journal_title:Annals of medicine
pub_type: 杂志文章,多中心研究
doi:10.1080/07853890.2019.1613672
更新日期:2019-01-01 00:00:00
abstract::Erythropoietin (EPO) is of special interest in the perinatal period in the mother and fetus. On the one hand, thanks to the recent development of highly sensitive radio-immunoassays and the ability to monitor endogenous EPO production, we can now study the physiological aspects of maternal and fetal erythropoiesis and...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:
更新日期:1993-06-01 00:00:00
abstract::In order to assess the effectiveness of lifestyle interventions in reducing cardiovascular disease risk factors, morbidity and mortality among working-age adults, we undertook a systematic review of randomized controlled trials of various lifestyle interventions (diet, exercise, smoking cessation, alcohol intake reduc...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析
doi:10.3109/07853890009011767
更新日期:2000-05-01 00:00:00
abstract:BACKGROUND:Hyperglycaemia has emerged as an important risk factor for death in coronavirus disease 2019 (COVID-19). The aim of this study was to evaluate the association between blood glucose (BG) levels and in-hospital mortality in non-critically patients hospitalized with COVID-19. METHODS:This is a retrospective mu...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2020.1836566
更新日期:2021-12-01 00:00:00
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 copr...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899409147341
更新日期:1994-04-01 00:00:00
abstract:BACKGROUND:Both depression and the metabolic syndrome are frequently found among patients with type 1 diabetes, but their potential association has not yet been investigated. In this paper the relationship between depression and the metabolic syndrome among patients with type 1 diabetes was evaluated. METHODS:A total ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2010.503660
更新日期:2010-10-01 00:00:00
abstract::Idiopathic pulmonary fibrosis (IPF) is the most common and lethal form of idiopathic interstitial pneumonia. The disease, which occurs primarily in middle-aged and older adults, is thought to arise following an aberrant reparative response to alveolar epithelial cell injury characterized by secretion of excessive amou...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2014.982165
更新日期:2015-02-01 00:00:00
abstract::Visceral obesity is associated with metabolic abnormalities that increase the risk of type 2 diabetes and coronary heart disease. Obese patients with a substantial accumulation of visceral adipose tissue are characterized by higher insulinaemic and glycaemic responses during an oral glucose challenge as well as by a d...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890108995963
更新日期:2001-11-01 00:00:00
abstract:BACKGROUND:Several studies have suggested that the occurrence of severe hypoglycemia during sleep may be more dangerous for cardiac arrhythmia than that in the day-time. METHODS:We performed a retrospective study between January 2006 and March 2012 to assess electrocardiograms during severe hypoglycemia in patients wi...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2015.1017528
更新日期:2015-05-01 00:00:00
abstract:BACKGROUND:Abnormal indices of angiogenesis have been reported in chronic heart failure (CHF). We tested the hypothesis that circulating angiogenin (a potent inducer of neovascularization in vivo) is higher in CHF patients compared with controls and associated with indices of CHF severity: brain natriuretic peptide (BN...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802001419
更新日期:2008-01-01 00:00:00
abstract::In the aetiological diagnosis of pulmonary infections in patients affected by haematological malignancies we evaluated the utility of bronchoalveolar lavage (BAL). One hundred and twenty-seven BAL were performed in 119 patients. In our series, we identified the agent of pneumonia in 53.5% of episodes with the best res...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899709007478
更新日期:1997-12-01 00:00:00
abstract::Mutations in cardiac voltage-gated K+ channels cause long-QT syndrome (LQTS) and sudden death. We have created a mouse with a long-QT phenotype by overexpression of truncated K+ channels in the heart and have investigated the phenotype of these mice. These mice have long-QT phenotype, and spontaneous and inducible arr...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/17431380410032643
更新日期:2004-01-01 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::Bone fractures affecting elderly people are a true public health burden, because they represent one of the most important causes of long-standing pain, functional impairment, disability, and death among this population. Compromised bone strength (osteoporosis) and falling, alone, or more frequently in combination, are...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890510007197
更新日期:2005-01-01 00:00:00
abstract::Lyme borreliosis is endemic in the Aland Islands. Exposure of the inhabitants to bites of the tick Ixodes ricinus is heavy. The purpose of this study was to describe symptoms and signs of patients with late Lyme borreliosis in this area, and to correlate the findings with the epidemiological setting. The first 100 con...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899309147296
更新日期:1993-08-01 00:00:00
abstract::BACKGROUND. Non-steroidal anti-inflammatory drugs are associated with poor upper gastrointestinal (UGI) tolerability and increased ulcer risk, but patient adherence to gastroprotective co-therapy is frequently inadequate. A fixed-dose combination of enteric-coated naproxen 500 mg and immediate-release esomeprazole mag...
journal_title:Annals of medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.3109/07853890.2011.625971
更新日期:2011-12-01 00:00:00
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
更新日期:1997-04-01 00:00:00
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
更新日期:2003-01-01 00:00:00
abstract::Several lines of evidence suggest that abnormal brain serotonin metabolism may occur in early onset, type 2 alcoholism in men. Low cerebrospinal fluid 5-hydroxy-indoleacetic acid concentration has been found to be associated with a history of paternal alcoholism, and abnormal oral glucose tolerance tests (tendency to ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899009147915
更新日期:1990-01-01 00:00:00
abstract::Certain bacterial infections have been demonstrated to be causative of reactive arthritis. The most common bacterial trigger of reactive arthritis is Chlamydia trachomatis. Chlamydia pneumoniae is another known cause, albeit far less frequently. Although Chlamydia-induced reactive arthritis will often spontaneously re...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2011.606830
更新日期:2012-12-01 00:00:00
abstract::The question why low-density lipoprotein (LDL) stranded in the subendothelium of arteries should acquire the proinflammatory properties that initiate and sustain atherogenesis has puzzled researchers for decades. The most popular concept contends that oxidative processes are crucial because oxidized LDL (ox-LDL) produ...
journal_title:Annals of medicine
pub_type: 社论
doi:10.3109/07853899809002596
更新日期:1998-12-01 00:00:00
abstract::Abstract The limits of traditional anticoagulants, such as heparin and warfarin, have prompted the search for new agents for prophylaxis and treatment of arterial and venous thromboembolism, including factor Xa and thrombin inhibitors. These agents can be given orally, and their most significant advantage is that no l...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2010.539250
更新日期:2011-03-01 00:00:00
abstract::Abdominal obesity in man is an integrated part of the Metabolic Syndrome, and is associated with a complex neuroendocrine disturbance. Its consequences for the metabolism of the periphery seems to be insulin resistance caused by a combination of a relative hypercortisolaemia and a relative deficiency of sex steroid ho...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899209166997
更新日期:1992-12-01 00:00:00
abstract::One of the major discoveries in modern genetics is the phenomenon of genomic, or parental, imprinting. The parent-of-origin effects seen after transmission of an imprinted gene from parents to their children do not follow the genetic rules postulated by Gregor Mendel. This has obvious consequences for genetic counsell...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899909019258
更新日期:1999-02-01 00:00:00
abstract::Non-steroidal anti-inflammatory drugs (NSAIDs) and specific inhibitors of cyclooxygenase (COX)-2, are therapeutic groups widely used for the treatment of pain, inflammation and fever. There is growing experimental and clinical evidence indicating NSAIDs and COX-2 inhibitors also have anti-cancer activity. Epidemiologi...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890310017053
更新日期:2003-01-01 00:00:00