Abstract:
:Heterozygous familial hypercholesterolemia affects one every 400 individuals, is caused by mutations in the LDL receptor gene and is associated with premature coronary artery disease. Nowadays, LDL cholesterol can be efficiently reduced with the new therapies to reduce blood lipids. We report a female patient who consulted in 1975, when she was 46 years old, for severe hypercholesterolemia. In 2003, a sample of leukocyte DNA was obtained and the uncommon 1705+1G>A mutation of the LDL receptor gene was detected. No mutations in the apolipoprotein B gene were found. The patient was treated successfully with simvastatin 80 mg/day and ezetimibe 10 mg/day and LDL cholesterol levels were reduced below 200 mg/dl.
journal_name
Rev Med Chiljournal_title
Revista medica de Chileauthors
Arteaga Ll A,Cuevas M A,Rigotti R A,González F,Castillo S,Mata L P,Alonso K Rdoi
10.4067/s0034-98872007000200011subject
Has Abstractpub_date
2007-02-01 00:00:00pages
216-20issue
2eissn
0034-9887issn
0717-6163pii
S0034-98872007000200011journal_volume
135pub_type
杂志文章abstract::We present a case of a 28 year old woman with paroxysmal left posterior fascicular ventricular tachycardia (LPFVT). Ventricular tachycardia was not inducible after completing of left ventricle 3D reconstruction. Even though catheter ablation was not performed, no LPFVT recurrence has been documented during 60 months f...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872010000800011
更新日期:2010-08-01 00:00:00
abstract::We analyze the effect of inspiratory muscle training (IMT) in patients with chronic obstructive pulmonary disease (COPD), with special emphasis on its effects on inspiratory muscle function and clinical outcomes. We reviewed only randomized, controlled studies that have either controlled both the load and the breathin...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:1998-05-01 00:00:00
abstract::The aim of this work is to analyze the distribution of Duffy blood group and the reproductive history of 148 malformed newborns and their mothers compared to 131 control pairs. The mother-child segregation of the system is analyzed using ITO matrixes. A higher frequency of heterozygote mothers for the system was found...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1994-09-01 00:00:00
abstract:BACKGROUND:Chromosome aberrations (CA) are the main etiology of multiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of moderate and severe degree. They account for 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic deletions or d...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011000300003
更新日期:2011-03-01 00:00:00
abstract::This article explores the causes of the crisis in the role of internists. As in the United States, the progressive specialization of internists lead to a dehumanized, expensive and technical practice of medicine. Aiming to better incomes and prestige, more than 60% of internists practice as specialists. Primary care p...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract::The earth of ornamental plants is one of the main reservoirs of Aspergillus type of fungi in hospital areas. We studied 174 ornamental interior plants from a hospital at Santiago. Samples were obtained from the soil surface and sowed in Sabouraud-glucose agar, adding streptomycin and G-penicillin. After 72 h of cultur...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1994-12-01 00:00:00
abstract:BACKGROUND:Scientific Ethics is the theory and praxis of decisions. Philosophical Ethics is presented as the theory and praxis of the good. As the good differs among cultures, Philosophical Ethics is dependent on the endo-cultural good conception. The decision (included that one of adhesion or not to a world vision) de...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2001-05-01 00:00:00
abstract::Technology for diabetes care has undergone major development during recent decades. These technological advances include continuous subcutaneous insulin infusion (CSII), also known as insulin pumps, and real-time continuous glucose monitoring system (RT-CGMS). The integration of CSII and RT-CGMS into a single device h...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872017000500011
更新日期:2017-05-01 00:00:00
abstract::Background Sleep duration may be a risk factor for cognitive impairment. Aim To investigate the association between sleep duration and cognitive function in Chilean older adults. Material and Methods We analyzed information from 1,384 participants aged > 60 years participating in the National Health Survey 2009-2010 w...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872019001101398
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:There are doubts wether generic medications have the same bioavailability and efficacy compared with the original drugs developed by pharmaceutical companies with research capabilities. AIM:To compare the pharmacokinetics and clinical (motor) responses of Sinemet and Grifoparkin (generic carbidopa/levodopa ...
journal_title:Revista medica de Chile
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:2003-06-01 00:00:00
abstract::We analyzed 33 patients with recurring nodular goiter (from a population of 2,500 operated patients). Recurrence occurred 0.7 to 12 years after surgery. T4, T3, TSH, perchlorate and TRH tests were performed in 18. Results were similar to those in 13 operated patients without recurrence. Administration of thyroid hormo...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1990-01-01 00:00:00
abstract::Latrodectism, produced by the bite of Latrodectus spiders, is worldwide distributed, occurs in hot seasons, and affects mostly men when carrying out agricultural activities. The main symptoms are muscular pain and tremors, profuse perspiration, increased lacrimal, nasal and salival secretions, and hypertension. Sympto...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:2003-04-01 00:00:00
abstract::Tumorogenesis is associated with several events by which a normal cell transforms itself into a tumour cell with an increased proliferation rate. One of the most important research initiatives in this area is the characterization of the molecular mechanisms involved in tumorogenesis and cancer. Oncogenes and tumour su...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:2000-05-01 00:00:00
abstract::High blood pressure of unknown etiology has been related to many pathogenetic factors, mainly dietary salt intake, mental stress, alcohol consumption, sedentary living and aging. Hypertension is more common in condition such as obesity and diabetes mellitus. Sustained elevation of arterial pressure is mediated by vaso...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:1992-06-01 00:00:00
abstract::We report a 56 years-old man presenting with chest pain with exercise, seven years after an orthotopic heart transplant. A coronary angiography showed an atherosclerotic lesion in the common left main coronary artery with more than 90% obstruction. The lesion was successfully treated with a transluminal angioplasty wi...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872007001200012
更新日期:2007-12-01 00:00:00
abstract:BACKGROUND:In patients with colorectal carcinoma, insertions or deletions of short sequences of DNA, a phenomenon called microsatellite instability, are observed. AIM:To look for microsatellite instability and mutations of MLH1 and MSH2 gene mutations in patients with colorectal carcinoma. MATERIAL AND METHODS:Ten pa...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872006001000002
更新日期:2006-10-01 00:00:00
abstract:BACKGROUND:Microbial invasion of amniotic cavity occurs in 30 to 50% of patients with premature membrane rupture. AIM:To determine the outcomes associated with microbial invasion of the amniotic cavity (MIAC) in patients with preterm premature rupture of membrane (pPROM). PATIENTS AND METHODS:One hundred thirty four ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872005000100007
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Depression is considered the second leading cause of disability worldwide. AIM:To describe the clinical characteristics and the evolution of major depressive disorder (MDD) in secondary care. To evaluate the association between socio-demographic and clinic variables with the first or recurrent major depress...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872017000300007
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:in fulminant hepatic failure, different organs systems become involved and a multiple systems organic failure may ensure. AIM:to perform a retrospective analysis of patients with fulminant hepatic failure admitted to UC Hospital Intensive Care Unit. PATIENTS AND METHODS:the charts of fourteen patients (8 m...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1994-06-01 00:00:00
abstract::In the context of a festschrift to commemorate the 125th anniversary of the Revista Médica de Chile, "radiography" of the journal has been depicted using several scientometric indicators. Among the mainstream journals in the category of Medicine, General & Internal and taking into account the wide editorial coverage a...
journal_title:Revista medica de Chile
pub_type: 历史文章,杂志文章
doi:
更新日期:1997-07-01 00:00:00
abstract:BACKGROUND:Autologous hematopoietic cell transplantation (THA) in patients with multiple myeloma and amyloidosis is the standard of care to promote disease free survival and quality of life. AIM:To report our experience with THA in patients with multiple myeloma. MATERIAL AND METHODS:Retrospective review of the hemat...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872014001200001
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:There is some information about wheeze characteristics in infants, however it is not clear whether the different wheeze patterns relates to prognosis and evolution during the first two years of life. OBJECTIVES:To characterize wheezing and spectral pattern of lung sounds in infants with acute bronchiolitis ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2002-07-01 00:00:00
abstract::A loop ileostomy with intraoperative anterograde colonic lavage has been described as an alternative to colectomy in the management of cases of Clostridium difficile infection refractory to medical treatment. We report a 69 years old diabetic women admitted with a septic shock. An abdominal CAT scan showed a pan-colit...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872015000500016
更新日期:2015-05-01 00:00:00
abstract::This article reviews some key issues of early rheumatoid arthritis such as the dfficulties to recognize this condition during the first months after onset. Therefore, three reference diagnostic criteria have been proposed for any patient presenting with more than three simultaneously inflammed joints, involvement of m...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/s0034-98872008001100015
更新日期:2008-11-01 00:00:00
abstract:BACKGROUND:The preferred treatment for ischemic mitral insufficiency is mitral valve repair with a prosthetic ring, because it does not deteriorate left ventricular function, allowing better immediate and long-term results. AIM:To assess long-term results of mitral annuloplasty with a prosthetic ring for ischemic mitr...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011001200003
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Recent data suggest an increase in tuberculosis (TB) incidence in Chile. AIM:To evaluate recent epidemiological trends, geographic extension and potential factors associated with TB reemergence in Chile. MATERIAL AND METHODS:Data analysis from official sources and trend analysis. RESULTS:TB incidence rate...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872019000801042
更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:Intestinal intussusception, a medical emergency, is more commonly idiopathic and ileocolic and occurs with higher frequency in children aged 6 months to 2 years. Barium enema confirms the diagnosis and allows its hydrostatic reduction, that is the treatment of choice of this condition. AIM:To report our exp...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::Andrés Bello, a Venezuelan intellectual arrived in Chile in 1829. He had a decisive influence on the development of natural sciences and medical sciences in this country. The first formal teaching program in Medicine appeared in 1833, with few students due to the low social prestige of Medicine at that time. The Facul...
journal_title:Revista medica de Chile
pub_type: 传,历史文章,杂志文章
doi:
更新日期:1991-11-01 00:00:00
abstract::We compared 2 techniques for determination of plasma levels of phenytoin, liquid-gas chromatography (LGC) and homogeneous enzymatic immunoassay (EI) in samples from 72 patients receiving monotherapy with this drug. Determinations were also made in samples of normal plasma with known concentrations of phenytoin. Good c...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1989-08-01 00:00:00
abstract:BACKGROUND:The pathophysiological hallmark of the hepatorenal syndrome (HRS) is renal vasoconstriction. Doppler ultrasonography can be used to assess the vascular resistance in small renal intraparenchymal vessels through analysis of the Doppler waveform by a parameter termed Resistive Index (RI). We postulated that th...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00