Abstract：
:Alpha-1 antitrypsin (AAT) deficiency is an under-recognized hereditary disorder associated with the premature onset of chronic obstructive pulmonary disease, liver cirrhosis in children and adults, and less frequently, relapsing panniculitis, systemic vasculitis and other inflammatory, autoimmune and neoplastic diseases. Severe AAT deficiency mainly affects Caucasian individuals and has its highest prevalence (1 : 2000-1 : 5000 individuals) in Northern, Western and Central Europe. In the USA and Canada, the prevalence is 1: 5000-10 000. Prevalence is five times lower in Latin American countries and is rare or nonexistent in African and Asian individuals. The key to successful diagnosis is by measuring serum AAT, followed by the determination of the phenotype or genotype if low concentrations are found. Case detection allows implementation of genetic counselling and, in selected cases, the application of augmentation therapy. Over the past decade, it has been demonstrated that AAT is a broad-spectrum anti-inflammatory, immunomodulatory, anti-infective and tissue-repair molecule. These new capacities are promoting an increasing number of clinical studies, new pharmacological formulations, new patent applications and the search for alternative sources of AAT (including transgenic and recombinant AAT) to meet the expected demand for treating a large number of diseases, inside and outside the context of AAT deficiency.
journal_name
J Intern Medjournal_title
Journal of internal medicineauthors
de Serres F,Blanco Idoi
10.1111/joim.12239subject
Has Abstractpub_date
2014-10-01 00:00:00pages
311-35issue
4eissn
0954-6820issn
1365-2796journal_volume
276pub_type
杂志文章,评审abstract：:Obesity and its comorbidities, such as type 2 diabetes, are pressing worldwide health concerns. Available anti-obesity treatments include weight loss pharmacotherapies and bariatric surgery. Whilst surgical interventions typically result in significant and sustained weight loss, available pharmacotherapies are far les...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/joim.12837
更新日期：2018-12-01 00:00:00
abstract：OBJECTIVES:To evaluate the concentrations of magnesium (Mg), potassium (K) and sodium,potassium pumps (Na,K pumps) in skeletal muscle in patients with chronic obstructive lung disease (COLD) treated with or without diuretics. DESIGN:An open cross-sectional study. SETTING:COLD patients admitted to the Medical Departme...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.1997.69891000.x
更新日期：1997-01-01 00:00:00
abstract：OBJECTIVE:Atherosclerosis is characterized by accumulation of lipids, cells and extracellular matrix (ECM) proteins in the arterial wall. Collagen type I (COL1), a component of the arterial ECM, is cleaved by matrix metalloproteinases (MMPs) and known to be remodelled in atherosclerosis. We explored whether the MMP-med...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/joim.12819
更新日期：2019-01-01 00:00:00
abstract：OBJECTIVES:Mixed cryoglobulinaemia (MC) and autoimmune chronic hepatitis (AI-CH) are frequently associated with hepatitis C virus (HCV) chronic infection. Because HCV represents a possible common aetiological factor, the aim of the present study is to investigate the clinico-serological alterations of both MC and AI-CH...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1994.tb01116.x
更新日期：1994-07-01 00:00:00
abstract：OBJECTIVES:Mild hyperhomocysteinaemia (HHC), fasting or after methionine loading, is associated with an increased risk and severity of atherosclerotic vascular disease. Post-methionine and fasting HHC are responsive to treatment with vitamin B, and folic acid. We performed a prospective cohort study amongst normohomocy...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.1999.00541.x
更新日期：1999-07-01 00:00:00
abstract：BACKGROUND:Studies have shown that lipoprotein(a) [Lp(a)], an important carrier of oxidized phospholipids, is causally related to calcific aortic valve stenosis (CAVS). Recently, we found that Lp(a) mediates the development of CAVS through autotaxin (ATX). OBJECTIVE:To determine the predictive value of circulating ATX...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/joim.12519
更新日期：2016-11-01 00:00:00
abstract：:The first unifying definition for the metabolic syndrome was proposed by WHO in 1998. In accordance to this, patients with type 2 diabetes mellitus or impaired glucose tolerance have the syndrome if they fulfil two of the criteria: hypertension, dyslipidaemia, obesity/abdominal obesity and microalbuminuria. Persons wi...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1046/j.1365-2796.2001.00864.x
更新日期：2001-08-01 00:00:00
abstract：:Pheochromocytoma endures as a life-threatening disorder. In the absence of systemic hypertension, diagnosis may be difficult. We present a 46-year-old normotensive male with a history of presyncope. One of these episodes could be documented, and revealed symptomatic bradycardia suspicious of sinus node arrest. Due to ...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.1997.00198.x
更新日期：1997-09-01 00:00:00
abstract：BACKGROUND:Hypertension is an important risk factor for cardiovascular disease. The latest guidelines recommend regular physical exercise as initial step or adjunct in the treatment of hypertension. We investigated the association between physical activity and the degree of hypertension, as well as the relation to indi...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.2003.01087.x
更新日期：2003-01-01 00:00:00
abstract：BACKGROUND:Hypovitaminosis D, a condition that is highly prevalent in older adults aged 65 years and above, is associated with brain changes and dementia. Given the rapidly accumulating and complex contribution of the literature in the field of vitamin D and cognition, clear guidance is needed for researchers and clini...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/joim.12279
更新日期：2015-01-01 00:00:00
abstract：OBJECTIVES:To evaluate the predictive accuracy of the scoring system Rapid Acute Physiology score (RAPS) in nonsurgical patients attending the emergency department (ED) regarding in-hospital mortality and length of stay in hospital (LOS), and to investigate whether the predictive ability of RAPS could be improved by ex...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.2004.01321.x
更新日期：2004-05-01 00:00:00
abstract：:Fifty consecutive patients with confirmed PCP received a high dose of cotrimoxazole for 14 d, or until development of intolerance, directly followed by reduced dose maintenance therapy. Seven individuals died during the high dose course. Twenty (47%) of the 43 survivors showed toxicity reactions that necessitated dose...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1990.tb00172.x
更新日期：1990-05-01 00:00:00
abstract：:Orthostatic hypotension (OH) is a relatively common heterogenous and multifactorial disorder, traditionally classified as neurogenic (less common but often more severe) or nonneurogenic (more common, with no direct signs of autonomic nervous system disease). The different clinical variants of orthostatic intolerance i...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/joim.12021
更新日期：2013-04-01 00:00:00
abstract：BACKGROUND:Echocardiographically determined left atrioventricular plane displacement (AVPD) is strongly related to prognosis in patients with chronic heart failure and in postmyocardial infarction patients. We aimed at exploring whether AVPD, unlike ejection fraction, is related to mortality in patients with stable cor...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.2003.01218.x
更新日期：2003-11-01 00:00:00
abstract：:Hyponatraemia (HN) can result from a wide range of mechanisms, and therapy must be individualized. Two theories of the origin of HN in acute brain disease have prevailed. The first is the cerebral salt wasting syndrome (CSWS), where excessive natriuresis caused by some unknown cerebral natriuretic factor lowers the to...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2796.1992.tb00588.x
更新日期：1992-10-01 00:00:00
abstract：:Sepsis is a major clinical problem in intensive care. The mortality in septic shock is high, and predominantly due to cardiovascular collapse and multiple organ dysfunction. In sepsis high levels of circulating hyaluronan have been found, correlating to disease severity and prognosis. The reason behind the increased l...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1046/j.1365-2796.1997.00177.x
更新日期：1997-07-01 00:00:00
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
更新日期：1998-07-01 00:00:00
abstract：:In this article, we review the current knowledge of the inherited genetics of epithelial ovarian cancer (EOC) susceptibility and clinical outcome. We focus on recent developments in identifying low-penetrance susceptibility genes and the role of the Ovarian Cancer Association Consortium (OCAC) in these discoveries. Th...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2796.2011.02509.x
更新日期：2012-04-01 00:00:00
abstract：BACKGROUND:Patients with coronary artery disease (CAD) and left ventricular systolic dysfunction (LVSD) are often asymptomatic. Angiogenesis is implicated in the physiology of vascular repair and cardiac remodelling, and is one of many pathophysiological processes implicated in heart failure. We hypothesized that plasm...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.2008.02057.x
更新日期：2009-05-01 00:00:00
abstract：:Chronic nonvalvular atrial fibrillation is associated with an overall risk of thromboembolic complications of 4.5% per year. Advancing age, prior stroke or transient cerebral ischaemia, diabetes, hypertension, and impaired function of the left ventricle are known risk factors. Placebo-controlled trials have demonstrat...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1046/j.1365-2796.1999.00461.x
更新日期：1999-04-01 00:00:00
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
更新日期：2009-07-01 00:00:00
abstract：:Personalized medicine involves the selection of the safest and most effective pharmacological treatment based on the molecular characteristics of the patient. In the case of anticancer drugs, tumour cell alterations can have a great impact on drug activity and, in fact, most biomarkers predicting response originate fr...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/joim.12321
更新日期：2015-02-01 00:00:00
abstract：OBJECTIVES:In this study, we explore the associations of decreased thyroid hormone levels with inflammation, wasting and survival in biochemically euthyroid patients with end-stage renal disease (ESRD). DESIGN:After exclusion of 23 patients with thyroid-stimulating hormone (TSH) values outside the normal range (0.1-4....
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.2007.01865.x
更新日期：2007-12-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:Atherosclerosis is a multifactorial disease, in part characterized by chronic inflammatory changes in the vessel wall and loss of normal physical and biochemical interactions between endothelial cells and smooth muscle cells. Previous studies [Hu J., Cotgreave IA. J Clin Invest; 99: 1-5] have ...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1046/j.1365-2796.1999.00564.x
更新日期：1999-08-01 00:00:00
abstract：BACKGROUND:Periodontal disease is associated with cardiovascular disease (CVD) but it is unknown if periodontal disease severity is associated with asymptomatic carotid plaque. The aim of the current population-based, observational study was to investigate if signs of periodontal disease are associated with the occurre...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/joim.12998
更新日期：2020-03-01 00:00:00
abstract：:Infection of mural thrombus over an area of old myocardial infarct was found in an elderly woman with cholangitis. This case is unique since cholangitis was thought to be the cause of septicaemia and ventricular aneurysm was not present. ...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2796.1990.tb00159.x
更新日期：1990-04-01 00:00:00
abstract：:Serum creatine kinase (CK) is an important adjunct in the diagnosis of myocardial infarction or in monitoring for the side-effects of drugs. We report elevation of CK in patients with untreated heterozygous familial hypercholesterolaemia (FH) with no evidence of myocardial infarction. Of a group of 30 patients, 60% ha...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.1990.tb00268.x
更新日期：1990-11-01 00:00:00
abstract：BACKGROUND:Heart failure is characterized by chronically increased adenosine levels, which are thought to express a protective anti-heart failure activation of the adenosinergic system. The aim of the study was to assess whether the activation of adenosinergic system in idiopathic dilated cardiomyopathy (IDC) can be mi...
journal_title：Journal of internal medicine
pub_type： 杂志文章
doi：10.1111/j.1365-2796.2003.01234.x
更新日期：2003-12-01 00:00:00
abstract：:To determine the folic acid absorption characteristics of patients with human immunodeficiency virus (HIV) infection, a prospective, controlled, result-blind single-dose oral absorption study was conducted. A total of 25 subjects were fasted and given 5 mg oral folic acid; blood samples were taken at time zero and aft...
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.1365-2796.1991.tb00435.x
更新日期：1991-09-01 00:00:00
abstract：:When and where did modern humans evolve? How did our ancestors spread over the world? Traditionally, answers to questions such as these have been sought in historical, archaeological, and fossil records. However, increasingly genetic data provide information about the evolution of our species. In this review, we focus...
journal_title：Journal of internal medicine
pub_type： 杂志文章,评审
doi：10.1046/j.1365-2796.2002.00907.x
更新日期：2002-01-01 00:00:00
