Abstract:
:Maternally Inherited Diabetes and Deafness (MIDD) is caused by mutations in mitochondrial DNA (mtDNA), mainly m.3243A>G. Severity, onset and clinical phenotype of MIDD patients are partially determined by the proportion of mutant mitochondrial DNA copies in each cell and tissue (heteroplasmy). The identification of MIDD allows a corred treatment with insulin avoiding drugs that may interfere with mitochondrial electrón chain transpon. We estimated the degree of heteroplasmy of the mutation m.3243A>G from blood, saliva, hair root and a muscle biopsy using quantitative PCR (qPCR) in a femóle adult patient. For this purpose, PCR producís were inserted in a vector creating plasmids with 3243A or G. Mutant and wild-type vectors were mixed in different proportions to créate a calibration curve used to interpólate heteroplasmy percentages with qPCR threshold cycles. The proportions of m.3243A>G heteroplasmy were 62% (muscle), 14% (saliva), 6% (blood leukocytes) and 3% in hair root. Quantitative analysis of heteroplasmy showed marked variations in different tissues (highest in muscle and lowest in blood). Given the relatively high heteroplasmy found in saliva, this type of biológical sample may represent an adequate non-invasive way for assessing the presence of m.3243A>G mutations in epidemiologic studies.
journal_name
Rev Med Chiljournal_title
Revista medica de Chileauthors
Cataldo LR,Olmos P,Valerie Smalley S,Díez A,Parada A,Gejman R,Fadic R,Santos JLdoi
10.4067/S0034-98872013000300004subject
Has Abstractpub_date
2013-03-01 00:00:00pages
305-12issue
3eissn
0034-9887issn
0717-6163pii
S0034-98872013000300004journal_volume
141pub_type
杂志文章abstract:BACKGROUND:Breast cancer will develop in one out of ten women during their lifetime. Early diagnosis has increased in recent years. AIM:To describe a population of women with breast cancer stage T1N0M0. To analyze radiation therapy toxicity and to evaluate treatment results. MATERIAL AND METHODS:Retrospective review ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872007000400003
更新日期:2007-04-01 00:00:00
abstract::The association of hyperthyroxinemia and euthyroidism is frequent and characterized by high plasma thyroxin concentrations, normal TSH values and absence of clinical signs of hyperthyroidism. We report an asymptomatic 28 years old male presenting with a serum total plasma thyroxin of 18.5 micrograms/dl (N 6.1-12.5), a...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract::Hospital bed availability, trends in number of beds, productivity and administrative aspects in the public and private hospital sectors are analyzed. At present, there are 3.3 beds per 1000 population in Chile. This represents a decrease from previous figures, in spite of increasing demands derived from population agi...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1992-03-01 00:00:00
abstract:BACKGROUND:Respiratory pathogens are becoming increasingly resistant to antimicrobials. A new group of drugs, called respiratory quinolones have been synthesized to overcome this problem. AIM:To study the in vitro susceptibility of respiratory pathogens to old and new antimicrobials. MATERIALS AND METHODS:Forty five ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract:BACKGROUND:The most common type of oral cancer is squamous cell carcinoma, which accounts for approximately 90% of all oral malignancies. Therefore the oral cancer problem primarily concerns the diagnosis, biology and management of squamous cell carcinoma (SCC). However, there are red and white lesions, that are consid...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2003-01-01 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: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::Obstructive Sleep Apnea (OSA) is characterized by repetitive upper airway collapse with apnea/hypopnea and recurrent hypoxia during sleep, which results in fragmented sleep and intermittent drops in arterial blood oxygen saturation (hypoxemia). Several dysfunctions of neurocognitive, endocrine, cardiovascular, and met...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872014000600009
更新日期:2014-06-01 00:00:00
abstract::Results of morbidity and medical care surveys performed in Santiago in 1993-94 are presented in this paper. The study has been done in an aleatory population sample of 4,700 people coming from 1,000 dwellings. Main results are as following: The Health National Fund (FONASA) is the most important financing medical care...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1995-01-01 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::Stem cells have drawn extraordinary attention from scientists and the general public due to their potential to generate effective therapies for incurable diseases. At the same time, the production of embryonic stem cells involves a serious ethical issue concerning the destruction of human embryos. Although adult stem ...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872013000800010
更新日期:2013-08-01 00:00:00
abstract::The administration of an angiotensin-converting enzyme (ACE) inhibitor transitorily reduces the GFR in a kidney with renal artery stenosis, effect that can be ascertained with scintigraphic studies using ACE inhibitors. We evaluated the clinical usefulness of captopril renography (CR) in the diagnosis of renovascular ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:Endometriosis affects at least 15% of infertile women. The diagnosis is made by direct visualization of implants either at laparoscopy or laparotomy. Elevation of plasma CA-125 levels has been associated with the presence of endometriosis. AIM:To search for a correlation between CA-125 and the presence of e...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2003-04-01 00:00:00
abstract::Mirizzi syndrome is estimated to occur in about 1% of cases requiring urgent or elective biliary tract surgery. The key anatomic finding is extrinsic compression of the common duct by a stone located in the gallbladder or cystic duct. Among patients operated on in the last 12 years we have found 77 patients meeting cr...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1989-05-01 00:00:00
abstract::Nucleolar organizer regions may be observed by colloidal silver stains. A considerable increase in the number of regions may be observed in tumors and other pathologic processes as an index of cellular proliferation. Among 20 studies in patients with gastric carcinoma we found a significantly greater number of nucleol...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1989-08-01 00:00:00
abstract::To study the effect of old age on phenytoin pharmacokinetics, twelve young and nine old adults aged 21.7 +/- 1.8 and 71.8 +/- 4.9 years respectively, were studied. No significant differences of phenytoin indicating the drug distribution and elimination does not change with aging. After oral administration, significant...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
abstract:BACKGROUND:The number of nonagenarians is rapidly growing in Chile. This age group is mainly female, with higher frailty markers and in higher risk of being placed at nursing homes. AIM:To describe features of nonagenarian women and compare them with a group of women between 60-89 years, both living in nursing homes, ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872004000100005
更新日期:2004-01-01 00:00:00
abstract::Currently, the Ebola virus has been classified by the WHO as "an international public health emergency" that has highlighted among other things, the enormous importance of proper and timely medical care. However, the complexity of this new health scenario, mainly due to personal risk in the event of infection, means t...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872015000700014
更新日期:2015-07-01 00:00:00
abstract::Due to demographic changes, rising health expenditures, and the reimbursement mechanisms of insurers in the past 30 years, physicians and nurses have had to change the way services are delivered. Concepts such as cost effectiveness and patient safety have also led to the emergence of case management. Case management, ...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872013001100010
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:The risk of cardiovascular diseases is two to four times higher in diabetic patients. AIM:To study the severity of coronary disease and survival of patients with diabetes mellitus, compared to matched controls without diabetes. PATIENTS AND METHODS:A retrospective review of all coronary angiographies perfo...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872004000300008
更新日期:2004-03-01 00:00:00
abstract::The classic hepatotropic viruses, hepatitis A through E, are not the only viral agents able to infect the liver. Other systemic viruses may cause hepatic injury that can range from mild and transient elevation of aminotransferases to acute hepatitis and occasionally acute liver failure and fulminant hepatitis. The cli...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:/S0034-98872010001100016
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Glutathione peroxidase (GP) can be used as a marker of oxidative stress in infectious diseases. AIM:To evaluate the association between the levels of glutathione peroxidase (GP) and the manifestations and complications of dengue. PATIENTS AND METHODS:Between April 2003 and December 2004, 161 patients with ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872007000600008
更新日期:2007-06-01 00:00:00
abstract::The accrual of anatomical preparations since the nineteenth century in Santiago, Chile, became the so called "anatomical cabinet" under the supervision of professor Julio F Lafargue. Afterwards, this cabinet evolved to form an anatomical museum in the mid twentieth century. It contained preparations using corpses whos...
journal_title:Revista medica de Chile
pub_type: 历史文章,杂志文章
doi:10.4067/s0034-98872018001201459
更新日期:2018-12-01 00:00:00
abstract::A toxicology testing is the search by the laboratory of the possible etiologic agents that can cause poisoning. Given the wide variety of substances that can poison a person, the laboratories should work coordinated with the emergency wards in order to determine the appropriate tests menu and the required turn around ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872009001000018
更新日期:2009-10-01 00:00:00
abstract:BACKGROUND:Squamous Cell Carcinoma (SCC) of the lip represents about 20% of all oral carcinomas. It is more common in men, peaking during their sixth and seventh decade, and is more prevalent in the lower lip. AIM:To determine the five years survival rate of Chilean patients with lip SCC. MATERIAL AND METHODS:The reg...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872015000700004
更新日期:2015-07-01 00:00:00
abstract::The aim of this work was to study the knowledge, opinions and sexual behaviour of a sample of 464 students from the Universidad Austral de Chile. Results show that 78% of male and 41% of female students have had a sexual intercourse and that 78% of males and 72% of females with an active sexual life use contraceptive ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract::Polycystic ovarian syndrome (PCOS) is an endocrine and metabolic dysfunction, highly prevalent in women in their reproductive years. Hyperandrogenism, oligo-ovulation, polycystic ovarian morphology are the main features of this syndrome. PCOS is a genetic disorder with a multifactorial etiology and has a strong link w...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/s0034-98872017000700907
更新日期:2017-07-01 00:00:00
abstract::Approximately, 10% of cirrhotic patients with ascites become refractory to medical treatment, a condition that reduces overall survival. TIPS is a therapeutic alternative for the management of refractory ascites. It corrects sinusoidal portal hypertension, becoming a rational and relatively safe therapeutic approach. ...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:1999-10-01 00:00:00
abstract::We report a 70 years old man presenting with malaise, anal pain and progressive defecation difficulty, with a decrease in stool caliber. The patient had no contact or past history of tuberculosis. On physical examination, there was an ulcerated anal lesion with purulent discharge, that produced an anal stenosis. The p...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1997-10-01 00:00:00
abstract::Kidney graft loss because arterial thrombosis is not common and is related to risk factors such as recurrent vascular hemodialysis access thrombosis, collagen-vascular disease, repeated miscarriage, diabetes mellitus and thrombophilia. Patients having this last disorder have an increased risk of repeated thrombosis in...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872007000100014
更新日期:2007-01-01 00:00:00