Abstract:
:We report a 11 years old male diagnosed as a X-linked hyper-IgM syndrome that presented with recurrent infections and sclerosing cholangitis and later developed a gallbladder cancer. Immunological evaluation showed decreased levels of serum IgG and IgA with elevated levels of IgM. Study of CD40 ligand expression on mitogen activated peripheral blood mononuclear cells revealed total absence of this marker on T lymphocytes. Molecular analysis detected, in the patient and his mother, a nonsense mutation in exon 1 of the transmembrane segment of the CD40 ligand. He also presented elevation of alkaline phosphatases and mild elevation of liver enzymes. Liver biopsy demonstrated the presence of idiopathic sclerosing cholangitis. The patient was started on monthly IVIG therapy at 400 mg/kg, as well as ursodeoxycholic acid and vitamin E, with normalization of his IgG and IgM levels a decrease in the incidence of infections and normalization of liver function. Three years after diagnosis, we detected the presence of polyps inside the gallbladder that were reported at biopsy as adenocarcinoma. He underwent hepatic bisegmentectomy (VI B-V) and local lymphadenectomy.
journal_name
Rev Med Chiljournal_title
Revista medica de Chileauthors
Rodríguez C,Carrión F,Marinovic MA,Chávez E,Preisler J,Pooley F,Futatani T,Ochs HDsubject
Has Abstractpub_date
2003-03-01 00:00:00pages
303-8issue
3eissn
0034-9887issn
0717-6163journal_volume
131pub_type
杂志文章abstract:BACKGROUND:The widespread use of INTERNET by adolescents, renders it a simple and accessible means for health care campaigns Aim: To perform a systematic review of ISI publications about INTERNET use for adolescent mental health prevention, detection, treatment or follow up. MATERIAL AND METHODS:Systematic reviews, me...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872014000400011
更新日期:2014-04-01 00:00:00
abstract::There is a close link between hypertension and atherosderosis. Hypertension causes atherosclerotic damage of several organs, called target organs and the risk factors for hypertension and atherosderosis are very similar. The risk of mortality associated to hypertension increases with blood pressure values below the cu...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:/S0034-98872010000300015
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:We report a 35-year-old female patient with a one year history of a pustular and painful erythematous dermatitis, located in great folds, pubis and abdomen. She was evaluated in primary health care, receiving antifungal treatment, antimicrobials, topical and systemic non-steroidal anti-inflammatory drugs, wi...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872012000500012
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:The presence of major genes in the susceptibility of non syndromic cleft lip with or without cleft palate (CL/P) in Chile has been postulated, considering the high prevalence and familial aggregation of this condition. AIM:To study the familial recurrence of CL/P in Chile. PATIENTS AND METHODS:The recurren...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
abstract::The new Chilean regulation about patients' rights and duties is generating a significant change in the information that health care professionals must provide to their patients. This issue will gravitate on medical liability. If this duty is accomplished incorrectly, professionals would fall into an illicit act and be...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872018000800909
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:Clinical reasoning is the most important competente in the training process of a physician. AIM:To develop a method for teaching clinical reasoning based on prototypes of clinical cases. MATERIAL AND METHODS:The study was conducted on sixty-four third year medical students. The study and control groups att...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872013000700001
更新日期:2013-07-01 00:00:00
abstract::Brain functioning is mainly intrinsic, not primarily reflexive. This is supported by the high energy requirements of the resting brain (20% of all the energy consumed) which only marginally increases with changes in brain activity. Modern neuroimaging and neurophysiological techniques have led to the discovery of the ...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872013000300014
更新日期:2013-03-01 00:00:00
abstract::Laugier-Hunziker syndrome is a rare benign idiopathic condition characterized by acquired macular pigmentation of lips and buccal mucosa, often accompanied with melanonychia. The main concern with this condition is to rule out other differential diagnosis with systemic repercussions and similar hyperpigmentation patte...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016000500017
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:Teenage pregnancy is a psychosocial and multifactorial problem described as a lack of exercise of rights in sexual and reproductive health. There are important aspects in the doctor-patient relationship and confidentiality that directly affect the continuity and quality of care. There are controversies in th...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016001000004
更新日期:2016-10-01 00:00:00
abstract:BACKGROUND:Crowding in Emergency Departments (ED), results from the imbalance between the simultaneous demand for health care and the ability of the system to respond. The NEDOCS scale (National Emergency Department Crowding Scale) measures the degree of crowding in an ED. AIM:To describe ED Crowding characteristics, ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872017000500001
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:Demands on primary health care services in Chile are increasing. The staff perception of specific sources of tension at work is not known. This knowledge is necessary to avoid preventable health problems caused by distress. AIM:To identify specific work stressors in primary health care facilities and to exa...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872006000400007
更新日期:2006-04-01 00:00:00
abstract::Hyperbaric oxygenation consists in exposing patients to increased gas pressures while inhaling pure oxygen. It involves the use of hyperbaric chambers that can double or triple gas pressure inside them. Hyperbaric oxygenation may be useful in different clinical situations, but mostly for the treatment of decompression...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872014001200011
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:The Latin American Study of Congenital Malformations (ECLAMC) has performed an epidemiological surveillance of congenital malformations since 1967. This allows to detect any unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. AIM:To report a summary...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011000100010
更新日期:2011-01-01 00:00:00
abstract::Myeloid sarcoma is a form of extra-medullary myeloid neoplasia. Cytogenetic characterization is hampered in the absence of invasion to the bone marrow, origin of cells that are usually studied in cytogenetic studies. We report a 13 years old mole presenting with a mass in the right shoulder. A biopsy of the tumor disc...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011000700013
更新日期:2011-07-01 00:00:00
abstract::Vasculitic midline destructive lesions can be a complication of cocaine use. We report a 44-year-old man who presented with a two months history of left facial pain associated with ipsilateral facial paralysis and a cheek phlegmon. Magnetic resonance imaging showed broad soft tissue destruction linked to important cra...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872018000901070
更新日期:2018-09-01 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::We followed 25 patients operated on for Wolff-Parkinson-White syndrome between August 1985 and October 1989. Their mean age was 37 +/- 12 years and arrhythmia had been present for 5 to 30 years. A mean of 3.3 +/- 1.2 antiarrhythmic agents had failed in controlling recurrences. Tachycardia was orthodromic in 21 patient...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1990-08-01 00:00:00
abstract:BACKGROUND:AgNOR technique detects, using silver salts, argyrophylic proteins of the nucleolar organizer region (NOR). The number and size of NOR reflect cell activity, proliferation and transformation and may help to differentiate benign from malignant cells. AIM:To assess the value of AgNOR assay to differentiate re...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:Oral cancer in Chile corresponds approximately to 1.6% of all cancer cases. There are few studies about oral epithelial dysplasia and oral squamous cell carcinoma in the Chilean population. AIM:To determine the frequency of hyperkeratosis, mild, moderate and severe oral epithelial dysplasia, in situ carcino...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016000200004
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND:Restless legs syndrome (RLS) affects 10% of the general population. AIM:To analyze a series of patients with a minimum follow-up period of four years, treated during an interval of 14 years. MATERIAL AND METHODS:Retrospective analysis of medical records of 200 patients assessed and followed by the authors ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016001200007
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Skin prick test (SPT) of immediate hypersensitivity is a main instrument in the diagnosis of allergy. AIM:To demonstrate the applicability of skin prick test in different age groups. PATIENTS AND METHODS:We studied children and adolescents with the diagnosis of allergy in the Pediatric Respiratory Laborato...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872005000200007
更新日期:2005-02-01 00:00:00
abstract:BACKGROUND:Hepatitis B vaccine has demonstrated to be very effective and safe preventing hepatitis B virus infection. Long term protection induced by hepatitis B vaccination depends on the initial immune response and the declining rate of anti-HBs titers. AIM. To investigate early and late response to hepatitis B vacci...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1993-05-01 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::We report a 70-year-old woman, who had recently consumed shellfish, that was admitted to the intensive care unit with septic shock and died 19 hours later due to a multi-organic failure. Microbiological, serological and molecular assays confirmed a hemolytic tdh+ Vibrio cholerae non-01, non 0139 as the etiologic agent...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872009000900008
更新日期:2009-09-01 00:00:00
abstract::Three patients seen at the Medicine Department of Del Salvador Hospital between 1986 and 1990 are reported. All had a history of purulent or bloody nasal discharge and recurrent sinusitis, before the appearance of progressive and painful destructive phenomena that affected the rhino faucial region. The diagnosis was m...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1992-11-01 00:00:00
abstract:BACKGROUND:The pathogenesis of secondary failure to hypoglycemic agents is heterogeneous. Some patients are true insulin dependent diabetics with a slow autoimmune disease suggested by their positive islet cell antibodies. Others, have an increased insulin resistance. AIM:To assess the frequency of positive islet cell...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1995-10-01 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::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:
更新日期:1994-10-01 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:In 1992, a consensus conference defined the terms systemic inflammatory response syndrome (SIRS), sepsis, severe sepsis and septic shock. Since then, numerous reports have validated the prognostic usefulness of these operative definitions. AIM:To evaluate if sepsis severity criteria, as defined by the Conse...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00