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 dual potential to promote tolerance or inflammation when facing self-antigens makes dendritic cells (DCs) fundamental players in autoimmunity. There is an association between smoking and DCs maturation in patients with rheumatoid arthritis (RA). However, ethnicity is a key factor in autoimmune disorders....
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872018000200150
更新日期:2018-02-01 00:00:00
abstract::Splenic abscesses are infrequent and usually associated to sepsis and immunodepression. The diagnosis is commonly made in the necropsy. We report two cases of multiple splenic abscesses in type II diabetic patients that were diagnosed by ultrasound. Both patients were successfully managed with surgery (drainage of lef...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1993-05-01 00:00:00
abstract::Hematopoietic precursors transplantation is a therapeutic alternative for leukemia, some metabolic diseases and some immune deficiency syndromes. In its allogeneic variety leukemia eradication is based in the conditioning prior to transplantation and the allograñ effect against leukemia. Umbilical cord blood is an alt...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872009000800009
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND:Scientific Ethics is the theory and praxis of decisions. Philosophical Ethics is presented as the theory and praxis of the good. As the good differs among cultures, Philosophical Ethics is dependent on the endo-cultural good conception. The decision (included that one of adhesion or not to a world vision) de...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Attention is considered a central control mechanism in cognitive processing systems. Attention deficits contribute to the symptomatic profile of Alzheimer's disease (AD). Physical exercise and cognitive reserve, could delay cognitive impairment and constitute a protective factor against clinical manifestatio...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872018000500570
更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:Streptococcus agalactiae or group B streptococcus, GBS, is the leading cause of neonatal and maternal infections and an opportunistic pathogen in adults with underlying disease. In the last decade, a dramatic increase in the resistance of this microorganism to erythromycin and clindamycin has been observed. ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872004000500003
更新日期:2004-05-01 00:00:00
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:BACKGROUND:There is phenotypic and genetic variability among the species Borrelia burgdorferi that produces Lyme disease. Three gene species and seven serotypes have been defined. AIM:To study the efficacy of two gene species in the serological diagnosis of Borrelia burgdorferi infections in Granada, Spain. MATERIAL ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1998-06-01 00:00:00
abstract:BACKGROUND:The incidence of morbid obesity is increasing and gastric bypass is the most effective surgical treatment. AIM:To assess the long term results of resection gastric bypass among morbidly obese patients aged less than 18 and over 65 years in terms of weight loss and correction comorbidities. MATERIAL AND MET...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872008001000003
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND:Reproductive number (R0)-maps estimate risk zones of vector-borne diseases and geographical distribution changes under climate change. AIM:To map R0 aiming to estimate the epidemiological risk of Chagas disease in Chile, its distribution and possible changes due to the global climate change. MATERIAL AND M...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872019000600683
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Psychological and biological symptoms occur in the perimenopausal period. However the real prevalence of these, is not well known in Chile. AIM:To determine the prevalence of biological and psychological symptoms and self care sexual health practices of perimenopausal women of Temuco, Chile. PATIENTS AND M...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1998-10-01 00:00:00
abstract:BACKGROUND:Type I human immunodeficiency virus (HIV) is characterized by a great genetic variability. There are three groups of virus throughout the world: O, N and M. Group M is responsible for AIDS pandemic and is subdivided in 9 genetic subtypes. Most viral strains in South America are subtype B. AIM:To determine t...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2003-07-01 00:00:00
abstract:BACKGROUND:Psychological problems are a frequent cause of consultation in primary care outpatient clinics. AIM:To report the results for Santiago de Chile of the World Health Organisation multicentric collaborative study on Psychological Symptoms in General Health Care. PATIENTS AND METHODS:The results of 1453 patien...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:1998-04-01 00:00:00
abstract:BACKGROUND:Poor oral health status may have an impact on the health status of patients with chronic renal failure. AIM:To describe the oral health status of a group of Brazilian patients with chronic renal failure. MATERIAL AND METHODS:Retrospective review of the medical records of patients with chronic renal failure...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872008000600008
更新日期:2008-06-01 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::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:BACKGROUND:Intensive medicine is especially expensive and requires an efficient management. AIM:To measure the real costs of diseases treated in an intensive care unit and compare them with the costs assigned by the Chilean National Health Fund (FONASA) for 2008. MATERIAL AND METHODS:Retrospective review of 225 patie...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872010000500005
更新日期:2010-05-01 00:00:00
abstract:BACKGROUND:Sepsis-induced acute kidney injury (AKI) is an early and frequent organ dysfunction, associated with increased mortality. AIM:To evaluate the impact of macrohemodynamic and microcirculatory changes on renal function and histology during an experimental model of intra-abdominal sepsis. MATERIAL AND METHODS:...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872014000500001
更新日期:2014-05-01 00:00:00
abstract:BACKGROUND:A change in the social structure of medicine and its impact on clients has occurred in the last decades. AIM:To perform a survey about subjective wellbeing among physicians. MATERIAL AND METHODS:A physician’ professional satisfaction survey consisting in 90 questions, was applied to 580 physicians (7...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011001000009
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:Systemic fungal infections and specifically invasive aspergillosis (IA) are associated with a high morbi-mortality rate in patients with hematologic malignancies. Itraconazole kinetic studies show that plasma levels are not satisfactory, even though there is a reduction of the severity in clinical cases. AI...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011000900003
更新日期:2011-09-01 00:00:00
abstract::Several associations between alleles of the major histocompatibility system and alcoholic liver disease have been described. However, these are weak and change from one population to another. The aim of this work was to search for a possible genetic risk factor for alcoholic liver disease among Chilean alcoholics. We ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1995-06-01 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::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
更新日期:2007-04-01 00:00:00
abstract:BACKGROUND:The early diagnosis and therapy of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can prevent adrenal crises and erroneous gender assignment in affected newborns. To achieve this goal neonatal mass-screening programs have been developed, measuring blood 17 alpha-hydroxyprogesterone (17...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2000-10-01 00:00:00
abstract:BACKGROUND:Intensity modulated radiotherapy (IMRT) is an important step forward in cancer treatment. AIM:To report the first experience in Chile with IMRT for prostate cancer and compare the results obtained with different doses. PATIENTS AND METHODS:From January 1997 through June 2008, 156 patients with a mean age o...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011001100009
更新日期:2011-11-01 00:00:00
abstract::Medicine is progressively loosing its prestige and efficacy and needs to rebuild the moral values that maintain the tacit social contract subscribed between doctors and patients. This altruistic commitment to serve people has been devaluated by changes in health systems, by advances in knowledge and by social and econ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872006000500016
更新日期:2006-05-01 00:00:00
abstract::The effect of a prolonged course of oral acyclovir was evaluated in 55 pts with recurrent genital herpes (36 men and 19 women). The pts were voluntarily enrolled after an acute episode, with tissue culture viral isolation. All the pts received an initial course with 200 mg of acyclovir x 5 for 10 days. Then they were ...
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:1991-08-01 00:00:00
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
更新日期:2020-07-01 00:00:00
abstract::Human immunodeficiency virus infection raises ethical issues in medical practice. This work presents several problems with ethical connotations related to HIV infections, observed by a neurologist during his medical practice. Patient-physician relationships, confidentiality, the request of patient consent to perform d...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1994-10-01 00:00:00
abstract::Central nervous system infections due to Listeria monocytogenes result in a variety of clinical syndromes ranging from meningitis to rhomboencephalitis. We report the case of a previously healthy patient with rhomboencephalitis in whom the CT scan was normal, while magnetic resonance imaging (MRI) confirmed the diagno...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:1991-12-01 00:00:00