Abstract:
:Gaucher's disease is a rare condition caused by a deficiency in the lysosomal enzyme called beta-glucocerebrosidase (GBA). The objective of our work was to analyse the clinical, diagnostic and therapeutic characteristics in a group of four patients with Gaucher's disease type 1. The advantages of the new diagnostic and therapeutic techniques are stressed. In all cases the diagnosis was made by means of cyto-histological examination and enzymatic measurement of the beta-glucocerebrosidase activity. A genetic study and genotype determination was made in the four cases. A questionnaire was administered to patients to evaluate their life quality applying the SF36 questionnaire adapted to the Gaucher's disease. All subjects have received enzymatic replacement therapy with the recombinant enzyme imiglucerase (Cerezyme Corporation) with a satisfactory clinical course. Interestingly, eosinophilia was present in one patient, which disappeared after treatment.
journal_name
Rev Clin Espjournal_title
Revista clinica espanolaauthors
Adarraga Cansino MD,Fernández de la Puebla R,Jiménez Perepérez JA,Pocoví Mieras M,Zambrana García JL,Pérez Jiménez Fkeywords:
subject
Has Abstractpub_date
2002-12-01 00:00:00pages
635-7issue
12eissn
0014-2565issn
1578-1860pii
13040512journal_volume
202pub_type
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journal_title:Revista clinica espanola
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doi:
更新日期:1992-04-01 00:00:00
abstract:BACKGROUND:There are no simple and validated instruments for evaluating the training of specialists. OBJECTIVES:To analyze the reliability and validity of a computerized self-assessment method to quantify the acquisition of medical competences during the Internal Medicine residency program. METHODS:All residents of o...
journal_title:Revista clinica espanola
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更新日期:2012-12-01 00:00:00
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journal_title:Revista clinica espanola
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journal_title:Revista clinica espanola
pub_type: 杂志文章,评审
doi:
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abstract::In pneumonias, the short diagnostic results of non-invasive procedures lead frequently to use invasive techniques, among which we find pulmonary puncture aspiration (PPA). In this study, the profitability of PPA in the diagnosis of pneumonias is evaluated. One hundred and thirteen PPA were performed on 107 patients di...
journal_title:Revista clinica espanola
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doi:
更新日期:1994-04-01 00:00:00
abstract::We have studied a group of 33 (27 female and 6 male) patients suffering pure essential arterial hypertension, with a mean age of 54.06 years, and who received a daily monodose of chlortalidone. Arterial pressure, blood viscosity at different shearing levels, as well as those parameters capable of modifying this viscos...
journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1990-09-01 00:00:00
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journal_title:Revista clinica espanola
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doi:
更新日期:2001-04-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1993-10-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1998-10-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:10.1157/13101846
更新日期:2007-04-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1992-09-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1993-03-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1994-12-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1990-11-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1991-07-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1991-04-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:10.1016/s0014-2565(03)71251-x
更新日期:2003-05-01 00:00:00
abstract::Aluminium is a toxic metal of known importance in patients with chronic renal failure on hemodialysis, with a gastrointestinal absorption modulated by several factors including gastric pH which modifies the solubility of Aluminium hydroxide and can increase its absorption. We studied twenty six patients with normal re...
journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1991-05-01 00:00:00
abstract::Patients admitted in an ICU after OH-CRA before and after the implementation of a MMICU were evaluated. During a period of 11 years, divided into a pre-MMICU period (1988-1993) and a post-MMICU period (1994-1998), 39 patients were admitted in the pre period and 64 patients in the post period. The basal characteristics...
journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:10.1157/13052582
更新日期:2003-11-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1999-10-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1989-12-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:10.1016/j.rce.2016.01.002
更新日期:2016-05-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:1991-11-01 00:00:00
abstract::Painful legs and moving toes syndrome is a rare medical picture characterized by involuntary movements of the toes or the whole foot and pain in lower limbs. However, this must be kept in mind due to its association with other diseases and its possibility of being the first symptom. Spinal cord and cauda equina diseas...
journal_title:Revista clinica espanola
pub_type: 杂志文章,评审
doi:10.1157/13102318
更新日期:2007-05-01 00:00:00
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journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:10.1016/j.rce.2014.08.008
更新日期:2015-03-01 00:00:00
abstract::Cutaneous larva migrans (CLM) is a frequent dermal disease in travelers, caused by larvae of nonhuman ancylostoma. We describe 34 outside cases of CLM diagnosed since January 1991 to June 2002. Nineteen male and female. Age: 35.7 years (20-60). The total number of CLM infestations was 73, 83.5% in feet. In five cases ...
journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:10.1016/s0014-2565(04)71567-2
更新日期:2004-12-01 00:00:00
abstract:UNLABELLED:An inappropriate hospital use, defined as hospital utilization that could have been occurred at a lower attending level or in less time, increases costs, creates inefficient management and influences on attending quality. The objective of this work was to evaluate the appropriateness and inappropriateness of...
journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract::Deep vein thrombosis (DVT) is part of the clinical spectrum of venous thromboembolism disease (VTE), whose estimated annual incidence rate is 1-2 episodes per 1000 individuals and represents the third leading cause of cardiovascular mortality in developed countries. Establishing an accurate diagnosis of DVT is essenti...
journal_title:Revista clinica espanola
pub_type: 杂志文章,评审
doi:10.1016/j.rce.2020.03.009
更新日期:2020-06-27 00:00:00
abstract:UNLABELLED:The objective of surgical treatment in ulcerative colitis (UC) and Crohn's disease (CD) differs. Surgery in UC is more aggressive and potentially curative whereas in CD it is more conservative and palliative. OBJECTIVE:To assess the opinion of patients with inflammatory bowel disease who underwent surgery i...
journal_title:Revista clinica espanola
pub_type: 杂志文章
doi:10.1016/s0014-2565(00)70698-9
更新日期:2000-09-01 00:00:00