Abstract：
BACKGROUND AND OBJECTIVE:Pulmonary arterial hypertension associated with systemic lupus erythematosus (PAH-SLE) is a rare disease with a low incidence rate. In this study, PAH related genes and genetic modifiers were characterised molecularly in patients with PAH-SLE. PATIENTS AND METHODS:Three patients diagnosed with PAH-SLE and 100 control individuals were analysed after signing an informed consent. RESULTS:Two out of the three analysed patients with PAH-SLE were carriers of pathogenic mutations in the genes BMPR2 and ENG. After an in silico analysis, pathogenic mutations were searched for in control individuals and different databases, with negative results, and they were thus functionally analysed. The third patients only showed polymorphisms in the genes BMPR2, ACVRL1 and ENG. Several genetic variants and genetic modifiers were identified in the three analysed patients. These modifiers, along with the pathogenic mutations, could lead to a more severe clinical course in patients with PAH. CONCLUSIONS:We present, for the first time, patients with PAH-SLE carrying pathogenic mutations in the main genes related to PAH and alterations in the genetic modifiers.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
Pousada G,Lago-Docampo M,Baloira A,Valverde Ddoi
10.1016/j.medcli.2018.01.023subject
Has Abstractpub_date
2018-08-10 00:00:00pages
111-115issue
3eissn
0025-7753issn
1578-8989pii
S0025-7753(18)30073-3journal_volume
151pub_type
杂志文章相关文献
MEDICINA CLINICA文献大全abstract：BACKGROUND:To determine the risk factors for the development of atopy in Spanish young adults. SUBJECTS AND METHODS:Case-control study over prevalent cases. Carried out in general population between the ages of 20 to 44 years old. Spanish participants of the ECRHS, a random representative sample of Spanish young adult...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(00)71231-0
更新日期：2000-02-12 00:00:00
abstract：BACKGROUND:Recent advances in sensitivity and specificity of hormone immunoanalysis and their automatization have brought about changes in clinical laboratories that led us to review the need for some endocrine dynamic tests. The specific aim of this study was to determine the basal cortisol values predicting a normal ...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(02)72415-9
更新日期：2002-04-06 00:00:00
abstract：:Weight loss can improve metabolic control in patients with type 2 diabetes mellitus but the results of conventional therapy in this respect have been discouraging. Besides achieving significant and sustained weight loss, bariatric surgery can improve or resolve type 2 diabetes mellitus in the majority of patients. Ana...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/j.medcli.2011.04.009
更新日期：2012-04-14 00:00:00
abstract：BACKGROUND AND OBJECTIVE:The use of complementary and alternative medicine (CAM) is increasing in last years. Studies performed out of Spain have reported rates of CAM use of 40-50% among IBD patients. There are no available data on drug abuse among IBD patients. The aims of our study were to evaluate the rate and asso...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1157/13097468
更新日期：2007-01-20 00:00:00
abstract：BACKGROUND AND OBJECTIVE:An important input to decision-making and health planning is a consistent and comparative description of the population health status. The purpose of this study was to describe the burden of disease in the Region of Valencia (Spain). MATERIAL AND METHODS:Disability-adjusted life years (DALYs) ...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2012.01.028
更新日期：2013-04-20 00:00:00
abstract：BACKGROUND:In the present study we evaluated the influence of the observer's status--physician or nurse--on blood pressure levels and the relationship among clinic blood pressure measurement with ambulatory blood pressure and left ventricle mass. PATIENTS AND METHODS:Cross sectional study performed in seven primary ca...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1999-12-11 00:00:00
abstract：:Pulmonary thromboembolism (PE) is a common cause of morbidity and mortality in patients with cancer. Having cancer is an independent risk factor for death in the general series of patients with PE and is included as a variable in the prognostic scales of acute symptomatic PE. This fact limits the discriminatory power ...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/S0025-7753(15)30016-6
更新日期：2015-01-01 00:00:00
abstract：BACKGROUND:The administration of factor VIII (FVIII) in continuous infusion (CI) to hemophiliac inpatients is a therapeutic approach made possible by the development of new commercial preparations. METHODS:In the present study the outcome of 14 treatment courses of FVIII in CI to 12 patients with hemophilia A (2 of th...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1991-03-16 00:00:00
abstract：BACKGROUND AND OBJECTIVE:We aimed to assess the population-based incidence and survival of primary Merkel cell carcinoma. MATERIAL AND METHOD:From January 1995 to December 2005, 19 patients diagnosed with primary Merkel cell carcinoma were recruited in the population-based Cancer Registry of Girona. RESULTS:The age-a...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2008.10.056
更新日期：2009-05-16 00:00:00
abstract：BACKGROUND:Cerebrovascular disease has particular features in young adults (15-45 years). In this context, non-traumatic intracranial hematoma (NTICH) has received little attention. Therefore, its analysis has been attempted focusing on etiology, localization and short term prognosis. METHODS:42 patients aged 15-45 ye...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1991-11-30 00:00:00
abstract：:A prospective analysis was carried out to evaluate the cost-effectiveness of two alternatives for the treatment of hypo-agammaglobulinemia with intravenous immunoglobulin: the current hospital administration and the administration in the patient's home. 38 patients or relatives were surveyed about their personal or fa...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1991-01-19 00:00:00
abstract：BACKGROUND:Lateral chest X-rays may be helpful in the early detection of osteoporotic patients. We studied the proportion of chest X-ray reports in which the radiologist highlighted the presence of vertebral osteoporotic signs, as well as the proportion of patients with such records who were further studied by their ph...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(01)72241-5
更新日期：2001-12-08 00:00:00
abstract：OBJECTIVE:To describe the secular trend of cancer incidence in Catalonia and to compare it with that observed in European regions. MATERIAL AND METHOD:Using data from the Tarragona and Gerona cancer registries, the number of cases, adjusted rates, and the annual percentages of change in cancer incidence in Catalonia f...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(08)76428-5
更新日期：2008-10-01 00:00:00
abstract：BACKGROUND:To determine the nonfulfillment of antiinfectious therapy in clinical practice. MATERIAL AND METHODS:Fulfillment was quantified by tablet counting (TC) in the homes of 366 patients undergoing antibiotic treatment and the motives and predictive factors were identified. RESULTS:Nonfulfillment was of 61% (95%...
journal_title：Medicina clinica
pub_type： 杂志文章,多中心研究
doi：
更新日期：1999-05-29 00:00:00
abstract：INTRODUCTION AND OBJECTIVES:Dilatation of the ascending aorta associated with bicuspid aortic valve is a major cause of morbidity and mortality in adults. The main objective was to recognize the aortic involvement in children, its characteristics and risk factors. METHODS:Aortic measures of all pediatric patients with...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2017.03.041
更新日期：2017-11-09 00:00:00
abstract：BACKGROUND:Nosocomial infection (NI) represents an increase of hospital morbidity and mortality. The data available concerning the hospital expenses due to the prolongation of hospital stay associated to NI are fundamentally derived from American studies. The aim of this study was to evaluate the direct cost of nosocom...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1993-03-06 00:00:00
abstract：:The aim of this article is to discuss the implications of the results obtained in the latest large-scale clinical trials designed to evaluate the effect of intensive glycemic control on the vascular complications associated with type 2 diabetes mellitus. The current scientific evidence is reviewed and the implications...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/S0025-7753(10)70025-7
更新日期：2010-09-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:To determine the prevalence of health care workers (HCW) susceptibility to varicella zoster virus (VZV). As a secondary objective, we describe the immunogenicity and reactogenicity of the vaccine. SUBJECTS AND METHODS:A multicenter analytic cross-sectional study was conducted in 5 hospitals in...
journal_title：Medicina clinica
pub_type： 杂志文章,多中心研究
doi：10.1016/j.medcli.2010.11.035
更新日期：2011-09-24 00:00:00
abstract：:Neutrophils play a key role in the innate immune system, providing the first line of host defense. In addition to their ability to eliminate pathogens by phagocytosis and antimicrobial secretions, it has recently been shown that neutrophils can trap and kill microorganisms by the release of extracellular structures co...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/j.medcli.2012.04.022
更新日期：2013-01-19 00:00:00
abstract：BACKGROUND:The aim of the present study was to provide information on several clinical and methodological aspects of the measurement of the contents of estrogen (ER) and progesterone (PgR) receptors in breast tumoral tissue using monoclonal antibodies. METHODS:The contents of ER and PgR were measured in 94 tumor speci...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1991-06-08 00:00:00
abstract：BACKGROUND:Hypertension and dyslipemia are associated with a greater frequency than that randomly expected. The increase in insulinic resistance hyperinsulinemia is one of the factors implicated in the pathogenesis of this association. In the present study the lipid profile of hypertensive patients is analyzed accordin...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1994-09-10 00:00:00
abstract：BACKGROUND:Sentinel-node biopsy is meant to excise the first-echelon node from a primary tumor, which is the one that most probably harbors early metastases. PATIENTS AND METHODS:We report our results in 35 patients with breast cancer, using a radiotracer by peri-tumoral injection, pre-surgical scintigraphy and intrao...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1999-06-19 00:00:00
abstract：INTRODUCTION:Hypertension has been associated with worse outcomes in patients with COVID-19 infection, so concerns have been raised about the possibility that inhibitors of the renin-angiotensin system (RAS) could influence the prognosis of these patients. METHODS:This is an observational study of 921 consecutive pati...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2020.07.004
更新日期：2020-12-11 00:00:00
abstract：BACKGROUND:Myotonic dystrophy (DM) is an inherited autosomal dominant disorder. The molecular defect responsible for the disease is the expansion of a CTG triplet at the 3' end of the DM gene. We report the analysis of the gene expansion, its correlation with the clinical severity and with the phenomenon of anticipatio...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：
更新日期：1993-03-13 00:00:00
abstract：BACKGROUND AND OBJECTIVES:Although health risks associated to excessive body fat increase with small increases in body weight, measurement of body fat is usually grouped in very few categories. The aim of our study was to assess whether the risk for a combined end-point including the incidence of either hypertension an...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/j.medcli.2009.02.016
更新日期：2009-05-09 00:00:00
abstract：:Currently, pharmacological thromboprophylaxis is frequently required in patients undergoing surgery, due to the high risk of deep venous thrombosis in the perioperative period. The administration of these anticoagulant agents (in Spain, usually low molecular weight heparins or fondaparinux, and in future, probably als...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/s0025-7753(08)76448-0
更新日期：2008-11-01 00:00:00
abstract：:The dual antiplatelet therapy with acetylsalicylic acid and clopidogrel has been the mainstay of both acute and chronic phase coronary artery disease, reducing importantly the risk of adverse events. Despite a correct compliance, a non-negligible rate of adverse events still happens. New compounds, with improved prope...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/j.medcli.2013.12.006
更新日期：2014-12-09 00:00:00
abstract：:Diabetic dyslipidemia, characterized by the lipid triad (elevated plasma triglycerides, low HDL cholesterol and predominance of small, dense LDL particles), is a significant contributor to the elevated cardiovascular risk of type 2 diabetic patients. Statin monotherapy has shown, in different prospective trials, signi...
journal_title：Medicina clinica
pub_type： 杂志文章,评审
doi：10.1016/j.medcli.2009.10.010
更新日期：2010-04-03 00:00:00
abstract：BACKGROUND AND OBJECTIVE:The aim of this study was to evaluate the ability of long-term highly active antiretroviral therapy (HAART) to fully reconstitute the immune system in children with severe AIDS. PATIENT AND METHOD:Lymphoproliferative responses (LPR) were evaluated by incorporation of [3H]-thymidine. Cytokine p...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(03)73723-3
更新日期：2003-03-29 00:00:00
abstract：BACKGROUND:Since 1992 conservative treatment of breast cancer (stage I and II: clinical TNM) has been established as an alternative to mastectomy in our hospital. The aim of this retrospective study was to analyse locoregional recurrence features and to compare prognosis with regard to to site of recurrence. METHOD:Be...
journal_title：Medicina clinica
pub_type： 杂志文章
doi：10.1016/s0025-7753(02)72321-x
更新日期：2002-02-16 00:00:00
