Abstract:
:Due to its varied and variable phenotypes, Andersen-Tawil syndrome (ATS) holds a unique place in the field of channelopathies. Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and severity are remarkably variable. Mutations in KCNJ2 are the primary cause of ATS with 21 mutations discovered in 30 families. These mutations affect channel function through heterogeneous mechanisms, including reduced PIP2-related channel activation and altered pore function. Aside from KCNJ2-based ATS, the genetic basis of this disease in nearly 40% of cases is unknown. Other ATS genes likely share a common pathway or function with Kir2.1 or facilitate the activity of this ion channel. In this review, we explore hypotheses explaining the pathogenesis, expression, and variability of ATS.
journal_name
Ann Medjournal_title
Annals of medicineauthors
Donaldson MR,Yoon G,Fu YH,Ptacek LJdoi
10.1080/17431380410032490subject
Has Abstractpub_date
2004-01-01 00:00:00pages
92-7eissn
0785-3890issn
1365-2060journal_volume
36 Suppl 1pub_type
杂志文章,评审abstract::Research in developing countries is essential for the evaluation of the safety, efficacy and acceptability of both new and already available contraceptives. Research conducted by scientists in developing countries has also played an essential role in the development of new contraceptives. The continuous delivery of pr...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899309147858
更新日期:1993-02-01 00:00:00
abstract::This meta-analysis examined the effect of probiotics on the reduction of lipid components and coexisting risk factors associated with cardiovascular disease. All randomized controlled trials published in English on PubMed and Scopus from 2000 to 2014 were systematically searched. Using the PEDro scale to assess the qu...
journal_title:Annals of medicine
pub_type: 杂志文章,meta分析,评审
doi:10.3109/07853890.2015.1071872
更新日期:2015-01-01 00:00:00
abstract::Caveolae are vesicular organelles (50-100-nm in diameter) that are particularly abundant in cells of the cardiovascular system, including endothelial cells, smooth muscle cells, macrophages, cardiac myocytes and fibroblasts. In these cell types, caveolae function both in protein trafficking and signal transduction, as...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.1080/07853890410018899
更新日期:2004-01-01 00:00:00
abstract::The purpose of this study was to test the applicability of exercise echocardiography in the diagnosis of coronary artery disease. The results were compared to findings of coronary angiography. 118 patients, 100 males and 18 females, who were all referred to coronary angiography for suspected ischaemic heart disease, u...
journal_title:Annals of medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3109/07853899608999078
更新日期:1996-02-01 00:00:00
abstract::Mixed connective tissue disease (MCTD) was first reported 25 years ago. This report provides an assessment of the course of juvenile (J) MCTD in 224 patients available in the literature until 1996, including our own 33 patients. Most patients improved and remissions were observed in 3-5% (up to 27%). Among the long-te...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899708999362
更新日期:1997-10-01 00:00:00
abstract::Copper is a trace element necessary for the normal function of several important enzymes but copper homeostasis is still poorly understood. In recent years remarkable progress has been made in this field following the isolation of the gene defective in Menkes disease. Menkes disease and occipital horn syndrome are X-l...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899609092936
更新日期:1996-04-01 00:00:00
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
更新日期:2015-02-01 00:00:00
abstract::Clinical experience has indicated that the effects of RU 486 can be divided into dose-dependent and dose-independent effects. Examples of the dose-dependent effects include the antiglucocorticoid effects of RU 486, whereas pregnancy termination or dilatation of the cervix can be considered dose-independent with the va...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899309147861
更新日期:1993-02-01 00:00:00
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::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::More than 50 different pharmacological and mechanical interventions have been tested to date for prevention of vascular restenosis without success. Intracoronary radiotherapy is the first one showing promise of significantly attenuating neointimal proliferation, causing positive vascular remodelling and thus inhibitin...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890009002033
更新日期:2000-12-01 00:00:00
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
更新日期:2014-09-01 00:00:00
abstract::Regenerative medicine is a multidisciplinary field utilizing the potential of stem cells and the regenerative capability of the body to restore, maintain, or enhance tissue and organ functions. Stem cells are unspecialized cells that can self-renew but also differentiate into several somatic cells when subjected the a...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853890.2011.573805
更新日期:2012-11-01 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::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::Atherosclerosis is a multifactorial pathological process. In recent years, the immune factors associated with its initiation and progression have been investigated intensively. Several autoantigens and their respective autoantibodies have been suggested as factors in atherogenesis. This manuscript provides a review of...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:
更新日期:2000-12-01 00:00:00
abstract:BACKGROUND:Mortality from coronary heart disease (CHD) has been constantly higher in eastern late settlement regions compared to western early settlements in Finland, unrelated to classical risk factors. In line with this, eastern birthplace was an age-dependent predictor of severe coronary atherosclerosis and pre-hosp...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853890.2012.727021
更新日期:2013-05-01 00:00:00
abstract::The aetiology of insulin-dependent diabetes (IDDM) involves genetic predisposition, a major component of which has been mapped in the HLA complex, near to or identical with genes encoding class II molecules. In Caucasian populations IDDM is strongly associated with the serologically defined HLA-DR3 and DR4 antigens, w...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899109148086
更新日期:1991-10-01 00:00:00
abstract:BACKGROUND AIMS:A mild increase in liver enzyme levels is sometimes observed in patients with diabetic ketosis or ketoacidosis. The aim of the present study was to assess the cause and prevalence of the elevation of liver transaminase levels in fulminant and acute-onset type 1 diabetic patients experiencing diabetic ke...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890802032711
更新日期:2008-01-01 00:00:00
abstract::The WHO Multinational Monitoring of Trends and Determinants in Cardiovascular Disease (MONICA) Project was initiated in the early 1980s with the main objective of assessing the extent to which trends in coronary heart disease and cerebrovascular disease are related to changes in known risk factors, daily living habits...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899409147329
更新日期:1994-02-01 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 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::A number of biochemical markers in maternal serum have been proposed for first trimester screening for Down's syndrome. The most promising four are pregnancy associated plasma protein A (PAPP-A), the free beta sub-unit of human chorionic gonadotrophin (hCG) (free beta glycoprotein sub-unit), unconjugated oestriol (uE3...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.3109/07853899409147323
更新日期:1994-02-01 00:00:00
abstract::Diabetes in childhood and adolescence is a difficult, lifelong, evolving disorder. Insulin treatment is essential for the establishment and maintenance of optimal metabolic control but it is only part of a comprehensive child-focused management strategy which must be initiated at the time of diagnosis. Attention must ...
journal_title:Annals of medicine
pub_type: 杂志文章,评审
doi:10.3109/07853899708999372
更新日期:1997-10-01 00:00:00
abstract:BACKGROUND:Blood pressure (BP) is one of the most powerful determinants of cardiovascular risk in women. This risk may differ between post-menopausal women with and without vasomotor hot flushes, possibly indicating different vascular responses to hormone therapy (HT). Thus, we compared in a clinical trial the effect o...
journal_title:Annals of medicine
pub_type: 杂志文章,随机对照试验
doi:10.3109/07853891003796760
更新日期:2010-07-01 00:00:00
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
更新日期:2003-01-01 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:BACKGROUND:Female sex, old age, and time to cardioversion increase the risk of thromboembolic complications (TEC) after cardioversion of atrial fibrillation (AF) < 48 h. The interaction of these variables is not known. We investigated the interaction of sex, age, and time to electrical cardioversion (ECV) on TEC in ant...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2016.1267869
更新日期:2017-05-01 00:00:00
abstract:INTRODUCTION:As individuals age, the prevalence of neurocognitive and mental health disorders increases. Current biomedical treatments do not completely address the management of these conditions. Despite new pharmacological therapy the challenges of managing these diseases remain.There is increasing evidence that the ...
journal_title:Annals of medicine
pub_type: 杂志文章
doi:10.1080/07853890.2020.1808239
更新日期:2020-12-01 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