[Late centronuclear myopathy: autosomal dominant form].

Abstract:

:We report a family with three generations affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or cold muscle spasms may appear. The gene is expressed with differing intensity in each individual. Myopathic electromyographic alterations are only found in functionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers.

journal_name

Rev Med Chil

journal_title

Revista medica de Chile

authors

Cartier L,Hernández JE

subject

Has Abstract

pub_date

1996-02-01 00:00:00

pages

209-16

issue

2

eissn

0034-9887

issn

0717-6163

journal_volume

124

pub_type

杂志文章
  • [Indication of gastrojejunostomy in unresectable pancreatic cancer].

    abstract:BACKGROUND:Up to 20% of patients with pancreatic carcinoma subjected to a bilio digestive diversion, develop a delayed gastric emptying due to duodenal infiltration. However the role of prophylactic gastrojejunoanastomosis is not well defined. AIM:To compare the effects of gastrojejunoanastomosis performed as prophyla...

    journal_title:Revista medica de Chile

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    doi:

    authors: Espinoza R,Rivera M,Guzmán S

    更新日期:1999-01-01 00:00:00

  • [Andres Bello and the origins of the University of Chile].

    abstract::During colonial times the Royal University of San Felipe was founded in 1738. The first plan for medical studies was outlined in 1779. During the Independence, the National Institute created in 1813 took over higher education. The first Course of Medicine was dictated there in 1833. The University of San Felipe was re...

    journal_title:Revista medica de Chile

    pub_type: 传,历史文章,杂志文章

    doi:

    authors: Costa-Casaretto C

    更新日期:1992-01-01 00:00:00

  • [Endoscopy after bariatric surgery: what the endoscopist must know].

    abstract::Endoscopy is essential in the assessment and treatment of the bariatric patient, especially in the postoperative state. Since bariatric surgery is increasing exponentially, endoscopists should be familiar with the anatomy and how to manage possible complications. New less invasive therapeutic tools will have a major i...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872020000100083

    authors: Díaz R,Narvaez A,Welsh L,Pérez JE,Dávalos G,Portenier D,Guerron AD

    更新日期:2020-01-01 00:00:00

  • [Ethical problems in daily medical practice].

    abstract::The practice of Medicine is exposed to everyday's ethical ventures that, even though not fundamental in a philosophical scope, are most crucial given its incidence and consequences to accessibility and equity in health care. A very special perception must emerge to allow us looking for those situations where moral con...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Rosselot E

    更新日期:1994-01-01 00:00:00

  • [Digoxin is effective in th treatment of patients with heart failure and sinus rhythm].

    abstract::Due to differences in treatment effect in studies on the effectiveness of digoxin in patients with congestive heart failure in sinus rhythm, a cross-over placebo-controlled, randomized double blind clinical trial was performed. Thirty one patients, without previous treatment with digoxin, in New York Heart Association...

    journal_title:Revista medica de Chile

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Lanas F,Standen D,Steinmann WC,Montecinos A,Stockins B

    更新日期:1994-10-01 00:00:00

  • [Association between sleep duration and cognitive impairment in older people].

    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

    authors: Nazar G,Leiva AM,Troncoso C,Martínez A,Petermann-Rocha F,Villagrán M,Mardones L,Martorell M,Labraña AM,Ulloa N,Díaz-Martínez X,Poblete-Valderrama F,Garrido-Méndez A,Celis-Morales C

    更新日期:2019-11-01 00:00:00

  • [Felodipine in the treatment of essential arterial hypertension in elderly patients].

    abstract:BACKGROUND:Felodipine is a calcium channel inhibitor with high vascular selectivity. AIM:To study the effectiveness of felodipine in the treatment of essential hypertension in subjects older than 64 years old. PATIENTS AND OUTCOME:Fifty subjects were studied. After a washout period of four weeks, subjects received a ...

    journal_title:Revista medica de Chile

    pub_type: 临床试验,杂志文章

    doi:

    authors: Fasce E,Peña L,Fasce M

    更新日期:1996-07-01 00:00:00

  • [The anatomy museum of the University of Chile: a national monument].

    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

    authors: Cárdenas V JL

    更新日期:2018-12-01 00:00:00

  • [The work environment as a source of exposure to secondhand smoke: a study in workers of bars and restaurants of Santiago, Chile].

    abstract:BACKGROUND:Secondhand smoke (SHS) is an established cause of morbidity and mortality among non-smokers. The workplace is an important source of exposure, especially among workers of restaurants, bars and nightclubs. AIM:To estimate the daily occupational exposure to SHS among non-smoking workers of bars and restaurant...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:/S0034-98872010001300007

    authors: Aceituno P,Iglesias V,Erazo M,Droppelmann A,Orellana C,Navas-Acién A

    更新日期:2010-12-01 00:00:00

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

    abstract:BACKGROUND:There is paucity of information about viral etiology of community acquired pneumonia in adults. AIM:To investigate the viral etiology of pneumonia among hospitalized patients. MATERIAL AND METHODS:All adults with pneumonia that were hospitalized were prospectively enrolled at Puerto Montt hospital. A micro...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872012000800003

    authors: Rioseco Z ML,Riquelme O R,Riquelme O M,Inzunza P C,Oyarzún G P,Agüero O Y,Ferrés G M,Vial C P,Fasce P R,Torres M A

    更新日期:2012-08-01 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

  • [Antimicrobial activity of amoxicillin versus amoxicillin/clavulanic acids. In vitro study against S aureus, H influenzae and A baumanii strains].

    abstract::The aim of this study was to compare in vitro activity, measuring minimal inhibitory concentration, of amoxicillin or its combination with clavulanic acid against 109 strains of Acinetobacter baumanii, 104 strains of Hemophilus influenzae and 94 strains of Staphylococcus aureus. All these were obtained from different ...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Trucco O,Prado V,Garreaud C,Paya E

    更新日期:1993-08-01 00:00:00

  • [The impact of domestic violence on children's health].

    abstract:BACKGROUND:There is close association between maltreatment during pregnancy and child abuse after birth. AIM:To compare anthropometric growth and use of health services of children whose mothers suffered maltreatment with children coming from families without domestic violence. SUBJECTS AND METHODS:A longitudinal stu...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Arcos E,Uarac M,Molina I

    更新日期:2003-12-01 00:00:00

  • [Vitamin D receptor gene polymorphisms and risk of hip fracture in Chilean elderly women].

    abstract:BACKGROUND:Osteoporotic hip fractures are devastating events in older women. There is a genetic modulation of bone phenotypic parameters including bone density (BMD) and bone fragility fractures. Vitamin D receptor (VDR) gene polymorphisms explain a small part of the genetic influence on BMD, whereas their effect on fr...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:/S0034-98872008000400008

    authors: Quevedo L I,Martínez B M,Castillo N M,Rivera F N

    更新日期:2008-04-01 00:00:00

  • [Treatment of a severe Clostridium difficile infection with colonic lavages. Report of one case].

    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

    authors: Quezada F,Castillo R,Villalón C,Zúñiga JM,Manterola C,Molina ME,Bellolio F,Urrejola G

    更新日期:2015-05-01 00:00:00

  • [A national online survey applied to patients with celiac disease in Chile].

    abstract:BACKGROUND:Celiac disease (CD) is an immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Its prevalence in Europe and the USA is 0.5 to 1%. AIM:To analyze epidemiological aspects and degree of compliance with gluten-free diet (GFD) among Chilean individuals with CD....

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:/S0034-98872011000700003

    authors: Espino A,Castillo L C,Guiraldes E,Santibáñez H,Miquel JF

    更新日期:2011-07-01 00:00:00

  • [A collaborative objective structured clinical examination for title revalidation by foreign medical graduates in Chile].

    abstract:BACKGROUND:Title revalidation of foreign medical graduates to practice medicine in Chile is a complex and expensive process. According to the legislation they are required to approve the Unique National Exam of Medical Knowledge (EUNACOM), which has a theoretical and a practical section. AIM:To demonstrate that a coll...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/s0034-98872018000200232

    authors: Kunakov P N,Moraga L,Ortiz L

    更新日期:2018-02-01 00:00:00

  • [Epidemiological features of syphilis diagnosed at a clinic of sexually transmitted diseases].

    abstract:BACKGROUND:Syphilis continues to be a common sexually transmitted disease. AIM:To describe the epidemiologic features of patients with syphilis consulting in a Chilean sexually transmitted diseases clinic. MATERIAL AND METHODS:Review of medical records of patients with positive serology for syphilis, who attended a u...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872020000700956

    authors: Cavero Tardones A,Ramírez-Santana M

    更新日期:2020-07-01 00:00:00

  • [Antimicrobial activity of actinomycetes isolated from aquatic environments in southern Chile].

    abstract:BACKGROUND:The easy access and inappropriate use of antimicrobials led to selection and spread of resistant microorganisms strains. It is imperative to search for new and more effective antimicrobials. One strategy is the screening of metabolites produced by microorganisms found in the environment. Actinomycetes are a ...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/s0034-98872004000200003

    authors: Leiva S,Yáñez M,Zaror L,Rodríguez H,García-Quintana H

    更新日期:2004-02-01 00:00:00

  • [Bone mineral density in school age children born preterm ].

    abstract:BACKGROUND:The age at which children born preterm normalize their bone mineral density, is not well known. AIM:To study if children born preterm have normalized their bone mineral density at age 5 to 7 years. PATIENTS AND METHODS:Twenty six infants born preterm (14 male), were studied at age 5 to 7 years. Birth weigh...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Milinarsky A,Fischer S,Giadrosich V,Hernández MI,Torres MT

    更新日期:2003-11-01 00:00:00

  • [Thyroid stimulating hormone reference values derived from the 2009-2010 Chilean National Health Survey].

    abstract:BACKGROUND:The determination of thyroid stimulating hormone (TSH) reference values is critical for the diagnosis of thyroid diseases. AIM:To explore and discuss different definitions to establish TSH reference values using a Chilean national survey sample. MATERIAL AND METHODS:The 2009-2010 Chilean National Health Su...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:10.4067/S0034-98872013000100013

    authors: Mosso L,Margozzini P,Trejo P,Domínguez A,Solari S,Valdivia G,Arteaga E

    更新日期:2013-01-01 00:00:00

  • [Acquired hemophagocytic syndrome treated with HLH 94-04 chemotherapy protocol: Report of four cases].

    abstract::Hemophagocytic syndrome is a severe condition of excessive immune activation that has a high mortality in the absence of treatment. The syndrome is classified as primary if associated with congenital or hereditary problems, or secondary/acquired if associated with infectious, autoimmune or oncology diseases. We report...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,评审

    doi:10.4067/S0034-98872015000900010

    authors: Beffermann C N,Pilcante S J,Ocqueteau T M,Sarmiento M M

    更新日期:2015-09-01 00:00:00

  • [Percutaneous puncture and drainage previous to elective surgical resection of a pheochromocytoma presenting as a retroperitoneal abscess: report of one case].

    abstract::We report a 57 year-old woman with a big partially cystic adrenal pheochromocytoma presenting with high fever and abdominal pain. Based on CT scan images and before knowing urinary catecholamines level, the diagnosis of sepsis secondary to an abscessed adrenal macrotumor was done. A diagnostic percutaneous fine-needle...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:/S0034-98872007000400013

    authors: Lam J,Henríquez R,Rojas O,Marina V

    更新日期:2007-04-01 00:00:00

  • [Nitric oxide in respiratory diseases].

    abstract::Recent reports have described a pathogenic role of nitric oxide in several respiratory disease. It is specially useful in the adult respiratory distress syndrome, where it acts as a selective vasodilator and improves gas exchange, decreasing pulmonary shunting. Although it has a proven bronchodilator effect, its thera...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章,评审

    doi:

    authors: Andresen M,Díaz O,Troncoso S

    更新日期:1997-08-01 00:00:00

  • [50th anniversary of the great reform of Chilean medical education (1945)].

    abstract::The author reminds the reform of medical education of 1945 in which he participated as a student. It was approved by the Decree #201 of april 2, introducing Chilean medicine into a new era of modernity. The reform was planned and conducted by professors Hernán Alessandri (1900-1980) and Alejandro Garretón (1900-1980) ...

    journal_title:Revista medica de Chile

    pub_type: 历史文章,杂志文章

    doi:

    authors: Cruz-Coke R

    更新日期:1995-08-01 00:00:00

  • [Resistance of human immunodeficiency virus (HIV) to zidovudine. Genotypic analysis in strains isolated from Chilean patients].

    abstract:BACKGROUND:Resistance of HIV to AZT is the result of mutations in the pol gene that codifies the enzyme reverse transcriptase. AIM:To assess the resistance to antiretroviral drugs in Chilean patients infected with HIV. MATERIAL AND METHODS:The presence of mutations was searched in 22 patients infected with HIV. The e...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Vial PA,Vial C,Abarca K,Noriega M,Jiménez G,Labarca J,Gasep J,Palacios O,Pérez C,Acuña G

    更新日期:1998-01-01 00:00:00

  • [Present status of medical specialties in the Chilean public health system].

    abstract::To adequately plan the post graduate training of physicians, we need to know the needs for specialists in the country and the most prevalent diseases and causes of consultations. In 2004, the National System of Health Services assessed the number of hours and types of specialties available, their regional distribution...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:/S0034-98872008000100013

    authors: Román A O,Señoret S M

    更新日期:2008-01-01 00:00:00

  • [Cell differentiation of cultured mammary epithelium].

    abstract::The functional differentiation of mammary epithelial cells requires specific hormones, growth factors and chemical signals of the cellular environment. These signals consist in cell communication with the extracellular matrix and cell-cell interactions which through an intrincated mechanism lead to the events that tri...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Cornejo R,Rocha H

    更新日期:1996-04-01 00:00:00

  • [Metabolic control of non insulin dependent diabetes mellitus in surgery].

    abstract::We followed 50 type II diabetic patients undergoing various types of surgical procedures. Control of blood sugar was evaluated as percent of tests within an acceptable limit defined as 160 mg/dl in the preoperative period, 80-240 mg/dl in the early postoperative period and 80-120 mg/dl thereafter. Adequate control was...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Morales H,Maiz A,Arteaga A

    更新日期:1989-07-01 00:00:00

  • [Primary hyperthyroidism after excision of a Struma ovarii].

    abstract::Struma ovarii is a teratoma composed of thyroid tissue and can be a rare cause of hyperthyroidism. We report a 35 years old woman with a left ovarian mass whose pathology revealed a Struma ovarii. This tumor was partially excised initially to avoid fertility problems and after a successful gestation, the tumor was com...

    journal_title:Revista medica de Chile

    pub_type: 杂志文章

    doi:

    authors: Sapunar J,Roa JC,Meissner A

    更新日期:2003-07-01 00:00:00