Abstract:
BACKGROUND:Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate. AIM:To study the linkage between non syndromic cleft palate and variations of MSX1 gene. PATIENTS AND METHODS:Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 127 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR. RESULTS:A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1. CONCLUSIONS:These results support the hypothesis of a genetic heterogeneity in the etiology of non syndromic cleft lip palate.
journal_name
Rev Med Chiljournal_title
Revista medica de Chileauthors
Blanco R,Jara L,Villaseca C,Palomino H,Carreño Hsubject
Has Abstractpub_date
1998-07-01 00:00:00pages
781-7issue
7eissn
0034-9887issn
0717-6163journal_volume
126pub_type
杂志文章abstract::IgG4 disease is a multi-systemic condition involving pancreas, salivary glands and lymph nodes. Less frequently, it causes interstitial nephritis and involves the lungs. We report a 58 years old male with a four years history of hemoptysis and renal dysfunction characterized by hematuria and proteinuria, responsive to...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872017000100018
更新日期:2017-01-01 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::To be successful, modern medical acts require the participation of several professionals and assistants and, as such, there has been a steady trend from individual medicine to the collective practice of the profession. This format raises issues in determining when a medical professional or other practitioner is liable...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011000500016
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:An important agent of food intoxication is Staphylococcus aureus, that is able to produce enterotoxins. AIM:To detect Staphylococcus aureus contamination in cafeteria food handlers of a Chilean University. SUBJECTS AND METHODS:Nose, throat, hands and nail samples from 87 food handlers were obtained for mic...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract:BACKGROUND:The great variability in the clinical presentation of Chagas disease may depend in part in the genetic variability of Trypanosoma cruzi populations. AIM:To compare prepatent period, parasitemia, mortality and histological lesions in mice infected with two populations of Trypanosoma cruzi isolated in Chile. ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872005000400006
更新日期:2005-04-01 00:00:00
abstract::We report the case of a woman with rapidly progressive IgA nephropathy. She was treated with pulse methylprednisolone sodium succinate (1 g/d for three days), cyclophosphamide, dipyridamole and aspirin. The rapid progression of renal failure was apparently halted after 6 months. ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1989-10-01 00:00:00
abstract::Preventive measures for teenage pregnancy (TP), would decrease infant mortality, early undernutrition and statal social expenditure. The cost of programs for TP would decrease with a sensitive risk indicator. We searched some pysoshocial and familial parameters, useful to built up this indicator. Self esteem (Piers-Ha...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract::Herod the Great was the founder of a dynasty that reigned on Judea for several generations. His birth date is estimated on year 73 AC and died at 70 years old. Descriptions of the final disease of Herod were obtained from the classical chronicles of Flavius Josephus, "The Jewish war" and "Jewish Antiquities". A medica...
journal_title:Revista medica de Chile
pub_type: 传,历史文章,杂志文章
doi:
更新日期:2003-05-01 00:00:00
abstract::The aim of this study was to study the degree of cellular proliferation quantifying the immunohistochemical expression of the proliferating cell nuclear antigen. We assessed paraffin embedded samples of 25 infiltrating epidermoid cervical carcinomas, 76 precursor lesions (34 of low and 42 of high grade), 29 normal and...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1995-09-01 00:00:00
abstract::Aseptic meningitis after lumbar puncture and spinal anesthesia is a rare but serious complication, whose acute onset and clinical symptoms mimic septic meningitis. A 33 year old woman presented this complication 5 h after an uneventful cesarean section under subarachnoid blockade. Though lumbar puncture revealed pleoc...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1991-04-01 00:00:00
abstract:BACKGROUND:Obstructive sleep apnea syndrome (OSA) is an important cause of morbidity and mortality in adults. AIM:To evaluate the diagnostic value of clinical features and oximetric data to screen for obstructive sleep apnea before performing polysomnograpy or respiratory polygraphy. MATERIAL AND METHODS:We studied 3...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872010000800001
更新日期:2010-08-01 00:00:00
abstract::Both epidemiological and clinical evidence suggest a relationship between the prenatal environment and the risk of developing diseases during adulthood. The first observations about this relationship showed that prenatal growth retardation or stress conditions during fetal life were associated to cardiovascular, metab...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/s0034-98872006000100015
更新日期:2006-01-01 00:00:00
abstract::To study the rate of infection by Epstein Barr virus (EBV) in Santiago, Chile, the prevalence of antibody to the viral capsid antigen (VCA-IgG) was determined in a group of 663 healthy individuals grouped by age and socioeconomic level (SEL). In addition, several risk factors for infection were studied. VCA-IgG was de...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1995-12-01 00:00:00
abstract::Aiming to correlate the alterations in evoked potentials with the initial clinical manifestations of multiple sclerosis, 29 patients with the disease were studied and 19 were followed for a lapse ranging from 1 to 11 years. Visual evoked potentials were studied in all the patients and 51% were abnormal. Auditory evoke...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1993-10-01 00:00:00
abstract::Background The treatment of choice of newly diagnosed multiple myeloma (NDMM) is an induction with proteasome inhibitors followed autologous stem cell transplantation (HSCT). Since 2013, the treatment of these patients in the public system is based on CTD (cyclophosphamide, thalidomide, and dexamethasone). Aim To eval...
journal_title:Revista medica de Chile
pub_type: 杂志文章,多中心研究
doi:10.4067/S0034-98872019001201561
更新日期:2019-12-01 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:BACKGROUND:Dopamine agonists (DA) effectively reduce tumor size of macroprolactinomas, with the consequent improvement of eventual visual impairment. AIM:To study the visual outcomes in patients with macroprolactinoma treated with DA. MATERIAL AND METHODS:Retrospective cohort study which included patients with macrop...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872013000600001
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:Mental disorders may interfere, aggravate or mimic medical conditions. AIM:To study the prevalence of psychiatric disorders among patients hospitalized in a medical ward of a general hospital. PATIENTS AND METHODS:A structured interview for DSM-III, devised for "non patients", was applied to 203 men and 20...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2001-11-01 00:00:00
abstract:BACKGROUND:Despite being among the best academically prepared of the country, many medical students have difficulties to communicate in writing. In 2005, the School of Medicine at the Pontificia Universidad Católica de Chile introduced a writing workshop in the undergraduate curriculum, to enhance the students' writing...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872009000500004
更新日期:2009-05-01 00:00:00
abstract::The results of a prospective protocol for the management of patients with gastric cancer applied from May 1988 to June 1991 are reported. 123 patients were operated on and a resection performed in 55%. Only 14 patients had incipient tumor and 44 had "curative" surgery. There was a preponderance of non differentiated t...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1992-04-01 00:00:00
abstract::Do transsexual people in Chile have a right to have their gender identity or their sex reassignment legally recognized? The absence of any legislation on gender identity or transsexualism could lead us to believe that it is not the case. However, a quantitative review of decisions issued by Chilean courts during the l...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872015000800008
更新日期:2015-08-01 00:00:00
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
更新日期:2018-11-01 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::One of the most important topics mentioned by people from places affected by the February 27th, 2010 earthquake to the Presidential Delegation for the Reconstruction, was the urgent need of mental health care. Given the enormous individual and social burden of mental health sequelae after disasters, its treatment beco...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016000200014
更新日期:2016-02-01 00:00:00
abstract:UNLABELLED:The lithogenic risk profile is a graphical representation of metabolic factors and urinary saturation involved in the stone formation with their respective critical values. AIM:To determine the lithogenic risk profile in patients with urolithiasis. MATERIAL AND METHODS:Personal data such as anthropometric,...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016000600005
更新日期:2016-06-01 00:00:00
abstract:BACKGROUND:The Chilean Ministry of Health proposed the use of "Mini Nutritional Assessment", to identify elders at nutritional risk. This score considers anthropometric, dietary and quality of life items. AIM:To assess the concordance of the mini nutritional assessment with body mass index and dietary parameters in Ch...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2001-08-01 00:00:00
abstract:BACKGROUND:In Chile, cerebrovascular diseases are the fifth cause of death among men and the third cause among women. AIM:To assess the clinical features and management of patients with cerebrovascular disease admitted to a public hospital during 1997. PATIENTS AND METHODS:A retrospective analysis of clinical records...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract:BACKGROUND:Subacute combined degeneration is a clinical manifestation of vitamin B12 deficiency, that we observe with unusual frequency. AIM:To report a series of eleven patients with subacute combined degeneration. PATIENTS AND METHODS:Retrospective analysis of 11 patients hospitalized in a public hospital in Santia...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872004001100006
更新日期:2004-11-01 00:00:00
abstract::There is an urgent need to increase the awareness on the Joint Hyper mobility Syndrome QHS). This is a congenital and prevalent emergent condition that is frequently undiagnosed and that causes significant health problems. Besides recurrent muscular-skeletal problems and signs and symptoms derived from tissue fragilit...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:/S0034-98872009001100013
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:Bottled water consumption has currently increased and their fluoride (F) concentration may not be ideal in terms of caries benefit or risk of fluorosis. While low concentrations would have little anticaries effect, high F concentration would increase the risk of dental fluorosis. AIM:To measure F concentrat...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872014000500011
更新日期:2014-05-01 00:00:00