[The human genome in clinical medicine].

Abstract:

:A revolution is taking place in Medicine as a consequence of advances in biotechnology and informatics. The unraveling of the human genome with a description of chromosomal maps for all structural genes affords a new framework for the understanding of etiology, diagnosis and prevention of every disease. More than three thousand million nucleotides codifying over 100 thousand genes may be manipulated by RNA recombinant techniques in order to identify location and help understand pathogeny as well as diagnosis and treatment of disease. Relevant techniques for genome desciphering include familial linkage, somatic cell hybridization, RFLPs, enzymatic quantification and analysis of chromosomal aberrations. Pathology of the genome may originate from germinal or somatic mutations. Resulting diseases may be classified as classic disease, physiologic disorders, congenital malformations and chromosomal aberrations. All diseases arise from alterations in the genome. Substitution of defective genes offers new forms of therapy. Advancing knowledge in this may lead to better control and prevention of genetic diseases.

journal_name

Rev Med Chil

journal_title

Revista medica de Chile

authors

Cruz-Coke R

subject

Has Abstract

pub_date

1989-05-01 00:00:00

pages

572-80

issue

5

eissn

0034-9887

issn

0717-6163

journal_volume

117

pub_type

杂志文章,评审
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  • [The right to a good quality of health care].

    abstract::Quality has a central role in medical care. The satisfaction of the rights of people to medical care, presupposes good quality medical acts. The meaning of quality goes further than a good attention based on scientific evidence and with competent skills. It comprises patient-physician relationship where professional b...

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    authors: Rosselot E

    更新日期:2000-12-01 00:00:00

  • [Aseptic techniques for minor surgical procedures].

    abstract::Aseptic techniques are those practices designed to reduce the risk of surgical site infection (SSI), defined as such, all those that occur within the first 30 days of the procedure. While the patient’s risk of developing an SSI in dermatologic surgery is low since many of the procedures are considered sterile, there a...

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  • [Medical care in Santiago, 1993].

    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...

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    authors: Medina E,Kaempffer AM,Cornejo E,Hernández E,Wall V

    更新日期:1995-01-01 00:00:00

  • [Perceptions of providers and clients about management and satisfaction with services in two public hospitals].

    abstract:BACKGROUND:Clients and providers of health care can have contrasting perceptions about the quality of service. Provider perceptions are mostly devoted to design and delivery of services while those of clients are focused in the attention received. AIM:To assess perceptions of health care providers and clients about cl...

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    doi:/S0034-98872010000500015

    authors: Riveros J,Berné C,Múgica JM

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  • [Recent case law about the right to die].

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    authors: Bascuñán R A

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  • [HRP/WHO: special program of research, development and research training in human reproduction, of the World Health Organization].

    abstract::The history, objectives and aims of this programme are described in detail. The principal goals achieved on anticonception, reproductive biology and abortion are analyzed, with special reference to the research done in Chile. The strengthening of research capabilities at national level was pointed out with special men...

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    pub_type: 历史文章,杂志文章

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    authors: Lavín P

    更新日期:1998-07-01 00:00:00

  • [Viral etiology of community acquired pneumonia among adults admitted to a general hospital].

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    journal_title:Revista medica de Chile

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    更新日期:2012-08-01 00:00:00

  • [Social support as a protective factor of recurrence after drug addiction treatment].

    abstract:UNLABELLED:Lack of social support can be one of the factors that influences recurrences of drug consumption after treatment of addictions. AIM:To assess the role of social support in maintaining drug abstinence after treatment. MATERIAL AND METHODS:We studied 306 subjects that were treated in drug addiction centers, ...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,多中心研究

    doi:/S0034-98872008000200005

    authors: Garmendia ML,Alvarado ME,Montenegro M,Pino P

    更新日期:2008-02-01 00:00:00

  • [Microsatellite instability among patients with colorectal cancer].

    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...

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    authors: Montenegro Y,Ramírez-Castro JL,Isaza LF,Bedoya G,Muñetón-Peña CM

    更新日期:2006-10-01 00:00:00

  • [The relevance of environmental health and the scope of pediatric environmental health specialty units].

    abstract::In the last decades there has been an important decrease in infant mobidity and mortality, but these achievements are not equally distributed across the whole population. Children are one of the most susceptible groups due to their unique vulnerabilities to environmental factors. Unhealthy environments, indoor polluti...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:/S0034-98872009000100016

    authors: París M E,Bettini M,Molina H,Mieres JJ,Bravo V,Ríos JC

    更新日期:2009-01-01 00:00:00

  • [Measurement of maximal oxygen uptake in a Chilean population sample].

    abstract:BACKGROUND:Maximal oxygen uptake is considered by the International Biological Programme as the international standard of cardiorespiratory adequacy and physical condition. AIM:To measure maximal oxygen uptake in normal Chilean subjects, to establish normal reference values. SUBJECTS AND METHODS:Maximal oxygen uptake...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Donoso H,Osorio J

    更新日期:1997-09-01 00:00:00

  • [Clinical and molecular features of cardial gastric cancer associated to Epstein Barr virus].

    abstract:BACKGROUND:Mortality caused by cardial gastric cancer in Chile, is increasing. Previously we demonstrated an association between Epstein Barr virus and this specific location of gastric cancer. AIM:To perform a clinical and molecular characterization of cardial gastric cancer associated to Epstein Barr virus. MATERIA...

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  • [Indication of gastrojejunostomy in unresectable pancreatic cancer].

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    authors: Espinoza R,Rivera M,Guzmán S

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  • [Pet cats, medicine and art].

    abstract::The author in this short text remembers the passing of a beloved pet cat. Cats are beautiful animals and wonderful companions. They evolved together with humans in Africa, subsequently spread over the five continents with them, and became the subject of many human cultural activities, including art, poetry and religio...

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    doi:10.4067/S0034-98872019000100091

    authors: Cabello C F

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  • [Tuberculosis and diabetes mellitus: a longitudinal-retrospective study in a teaching hospital].

    abstract::We analyzed 1529 diabetic patients seen between 1959 and 1982 at a teaching hospital in Concepción, Chile. 116 of them were insulin dependent diabetics. Gestational diabetes was excluded. The 10 year actuarial risk of acquiring tuberculosis was 24.2% for insulin-dependent diabetics and 4.8% for the rest (p less than 0...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

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    authors: Olmos P,Donoso J,Rojas N,Landeros P,Schurmann R,Retamal G,Meza M,Martinez C

    更新日期:1989-09-01 00:00:00

  • [Lipids, lipoproteins and apolipoproteins in normal newborns].

    abstract:BACKGROUND:In Chile, there is a high prevalence of cardiovascular diseases. Because atherosclerosis starts in childhood, it is important to assess serum lipid levels in children. AIM:To measure serum lipid levels in normal Chilean newborns. SUBJECTS AND METHODS:A sample of umbilical cord venous blood was obtained fro...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Casanueva V,Cid X,Chiang MT,Molina M,Ferrada MC,Pérez R,Casanueva P

    更新日期:1998-09-01 00:00:00

  • [Hernán Iturriaga Ruiz, M.D., President of the Medical Society of Santiago, 1995-1997].

    abstract::Dr. Hernán Iturriaga is now President of Sociedad Médica de Santiago (Chilean Society of Internal Medicine) for the period 1995-1997. He received his M.D. title at the University of Chile in 1961 and his postgraduate training included a USPHS International Postdoctoral Research Fellowship at Mount Sinai School of Medi...

    journal_title:Revista medica de Chile

    pub_type: 传,历史文章,杂志文章

    doi:

    authors:

    更新日期:1996-07-01 00:00:00

  • [Association between physical fitness parameters and health related quality of life in Chilean community-dwelling older adults].

    abstract:BACKGROUND:There is no conclusive evidence about the association between physical fitness (PF) and health related quality of life (HRQOL) in older adults. AIM:To seek for an association between PF and HRQOL in non-disabled community-dwelling Chilean older adults. MATERIAL AND METHODS:One hundred and sixteen subjects ...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872017000100008

    authors: Guede Rojas F,Chirosa Ríos LJ,Fuentealba Urra S,Vergara Ríos C,Ulloa Díaz D,Campos Jara C,Barbosa González P,Cuevas Aburto J

    更新日期:2017-01-01 00:00:00

  • [Are congenital malformations increasing? Comparative study of 2 periods: 1971-1977 and 1982-1991, in the maternity of the Clinical Hospital of the University of Chile].

    abstract::The aim of this work was to analyze the global incidence of congenital malformations at the Maternity of University of Chile Clinical Hospital in the periods between 1971 and 1977 and between 1982 and 1992. A significant and sustained increase in incidence was observed in the first period from 10.64 per 1000 born aliv...

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    authors: Nazer Herrera J,Cifuentes L,Ruiz G

    更新日期:1993-09-01 00:00:00

  • [Glucotoxicity and lipotoxicity: factors in the pathogenesis and evolution of type 2 diabetes].

    abstract::Glucose toxicity refers to the structural and functional damage in the beta cells and target tissues of insulin, caused by chronic hyperglycemia. These alterations cause a lower hormonal secretion and action (insulin resistance). Lipid toxicity refers to the damage caused by persistently high free fatty acid levels, a...

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    pub_type: 杂志文章,评审

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    authors: Durruty P,García de los Ríos M

    更新日期:2001-06-01 00:00:00

  • [Automatic keyword retrieval from clinical texts: an application of natural language processing to massive data of Chilean suspected diagnosis].

    abstract:BACKGROUND:Free-text imposes a challenge in health data analysis since the lack of structure makes the extraction and integration of information difficult, particularly in the case of massive data. An appropriate machine-interpretation of electronic health records in Chile can unleash knowledge contained in large volum...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/s0034-98872019001001229

    authors: Villena F,Dunstan J

    更新日期:2019-10-01 00:00:00

  • [Systemic leptospirosis as a cause of multiple organ failure. Report of a case].

    abstract::Leptospirosis is a world-spread zoonosis that is incidentally acquired by humans. It causes a diphasic febrile illness in which the Weil syndrome is its severest form, with renal, hepatic, clotting and central nervous system involvement. We report a 73 years old male, that was admitted to an intensive care unit with m...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Garrido R,Castillo L,Hernández G,Abarca J,Montes JM,Monsalve V,Espinoza R,Valenzuela S,Pérez G

    更新日期:1996-03-01 00:00:00

  • [Prevalence of risk factors to cardiovascular disease in group of Chilean employees].

    abstract:BACKGROUND:Cardiovascular diseases are the main causes of death in Chile and there is a high prevalence of cardiovascular risk factors in the population. AIM:To assess the prevalence of those risk factors in a group of employees. SUBJECTS AND METHODS:We studied 2,219 individuals, 1,378 males with a mean age of 46.2 +...

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    doi:

    authors: Lanas F,Del Solar J,Maldonado M,Guerrero MA,Espinoza F

    更新日期:2003-02-01 00:00:00

  • [Malignant neuroleptic syndrome, medical-psychiatric approach].

    abstract::We report the case of a 42 years old male, with a bipolar disorder and receiving lithium therapy, valproic acid and clonazepam. Due to an exacerbation of his underlying disease, he was admitted to a psychiatric clinic and received 50 mg of intramuscular chlorpromazine in two occasions. Afterwards, the patient had an a...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Giacamán P,Andresen M,Gareca N,Bitrán J,Dougnac A

    更新日期:1997-02-01 00:00:00

  • [Delayed hemolytic reaction to transfusion in sickle cell anemia. Report of one case].

    abstract::Sickle cell anemia was a rare disease in Chile, especially in adults, however the recent immigration wave from Haiti is changing this scenario. We report a 29 year old black female from Haiti with a non-disclosed history of sickle cell anemia. She was transfused with two units of red blood cells, found unconscious and...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872018001101347

    authors: Moya F,Rivera M,Araya F,Donoso J,Sandoval P,Varas P

    更新日期:2018-11-01 00:00:00

  • [Efficacy of propylthiouracil in the treatment of amiodarone-induced hyperthyroidism].

    abstract::Amiodarone is a benzofuranic derivative widely used in cardiologic practice because of its excellent antiarrhythmic properties. Due to its high iodine content, it interferes with thyroid physiology and can cause either hyper or hypothyroidism. Amiodarone-induced hyperthyroidism should be considered as a serious compli...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

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    authors: Pineda G,Meruane J,Valenzuela MA,Bianchi C

    更新日期:1989-03-01 00:00:00

  • [Human papilloma virus (HPV) typing in preneoplastic and neoplastic lesions of the uterine cervix in the IX region-Chile].

    abstract:BACKGROUND:Uterine cervical cancer (UCC) is an important public health problem in Chile. Although HPV infection has been established as the main cause of UCC, little is known of its frequency and distribution in our population. AIM:To determine the presence and frequency of viral genotypes in uterine cervical specimen...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Melo A,Montenegro S,Hooper T,Capurro I,Roa JC,Roa I

    更新日期:2003-12-01 00:00:00

  • [Hemoglobin, serum iron and transferrin saturation among users of intrauterine devices and oral contraceptive agents].

    abstract::We studied 60 females using either intrauterine device or taking oral contraceptive pills. Hemoglobin, serum iron, total iron binding capacity and saturation of transferrin were determined before and 4 and 10 months after starting a responsible paternity program. Women with a basal hemoglobin level below 12 g/dl were ...

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    authors: Palomo I,Grebe G,Valladares G,Bustos P,Ferrada M

    更新日期:1990-05-01 00:00:00

  • [Effects of vitamin C administration on cholesterol gallstone formation].

    abstract:BACKGROUND:Biliary cholesterol is transported by vesicles and micelles. Cholesterol microcrystals are derived from thermodynamically unstable vesicles. In experimental animals vitamin C deficiency leads to a super-saturation of biliary cholesterol and to the formation of gallstones. AIM:To search for a possible relati...

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    pub_type: 杂志文章

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