[Gaucher's disease. Report of 4 cases].

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 Esp

journal_title

Revista clinica espanola

authors

Adarraga Cansino MD,Fernández de la Puebla R,Jiménez Perepérez JA,Pocoví Mieras M,Zambrana García JL,Pérez Jiménez F

keywords:

subject

Has Abstract

pub_date

2002-12-01 00:00:00

pages

635-7

issue

12

eissn

0014-2565

issn

1578-1860

pii

13040512

journal_volume

202

pub_type

杂志文章
  • [Antibodies against mycobacterial antigens in patients with non-tuberculous pathology].

    abstract::Antibodies (type IgG) against the A 60 antigen (Mycobacterium bovis, BCG) and an antigen of Mycobacterium tuberculosis were studied by ELISA in 79 patients with not tuberculous disease: 16 lung carcinoma, 16 hepatic cirrhosis and 47 patients with pulmonary disease. 59.5% and 50.6% of the patients showed antibodies aga...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Ladrón de Guevara MC,González A,Saz JV

    更新日期:1992-04-01 00:00:00

  • [The Computer Book of the Internal Medicine resident: validity and reliability of a questionnaire for self-assessment of competences in internal medicine residents].

    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

    pub_type: 杂志文章

    doi:10.1016/j.rce.2012.04.004

    authors: Oristrell J,Casanovas A,Jordana R,Comet R,Gil M,Oliva JC,equipo de residentes de Medicina Interna de la Corporació Sanitària i Universitària Parc Taulí.

    更新日期:2012-12-01 00:00:00

  • [Applications of proteomic techniques in clinical practice: present situation and perspectives].

    abstract::Study of the human proteome has given rise to the appearance of abundant and increasing scientific literature. This has resulted in the proposal to use proteomic techniques in the management of some diseases and the suggestion of its future use in clinical laboratories. In order to identify which proteomic techniques ...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:10.1157/13107947

    authors: Caballero-Villarraso J,Márquez-Calderón S,Villegas-Portero R

    更新日期:2007-07-01 00:00:00

  • The case against performing pleural biopsies for the aetiological diagnosis of exudates.

    abstract::In most cases, the etiological diagnosis of pleural exudates does not require a pleural biopsy. However, when it is considered necessary, the biopsy should seldom be conducted using invasive methods such as thoracoscopy. Two paradigmatic examples are pleural tuberculosis and malignant effusions. In many centres, pleur...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:10.1016/j.rce.2017.02.016

    authors: Porcel JM

    更新日期:2017-10-01 00:00:00

  • [Fetus-in-fetu in male adult. Report of an exceptional case and review of the literature].

    abstract::The name fetus-in-fetu designates the presence of a tumoral mass containing a homunculus. Fewer than 70 cases have been reported in the literature since its first description about 1800. This entity usually presents in childhood and it is exceptional in adult life. There is an interesting debate regarding its origin a...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章,评审

    doi:

    authors: Vigal G,Avilés García P,Domínguez Iglesias F,Pérez Ania MA,Fernández García M,Trelles Martín A

    更新日期:1996-11-01 00:00:00

  • [Pulmonary aspiration puncture in the etiological diagnosis of pneumonias].

    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

    pub_type: 杂志文章

    doi:

    authors: Ayerbe R,Verano A,Capote F,Pachón J,Cuello JA,Segado A

    更新日期:1994-04-01 00:00:00

  • [The blood rheology of diuretics].

    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:

    authors: Labiós M,Romero M,Gabriel F,Fuster E,Tatay E,Vallés R

    更新日期:1990-09-01 00:00:00

  • [Decisions and therapeutic attitudes for patients with white coat hypertension].

    abstract:OBJECTIVE:To analyze the different therapeutic attitudes towards patients with arterial hypertension (AH) or white coat hypertension (WCH). DESIGN:Longitudinal, retrospective study after performing a 24 h ambulatory blood pressure monitoring of ABPM. SETTING:Urban health center. PATIENTS:Eighty-six patients aged ove...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Vinyoles Bargalló E,Garaikoetxea Iturriria A,Ibernón López M,Sancho Muñoz S,Díaz de Sarralde B,de la Figuera von Wichmann M

    更新日期:2001-04-01 00:00:00

  • [Pharmaceutical marketers: professional and informative aspects].

    abstract::This study tries to know the opinion of pharmaceutical detailers about their profession, as well as their pharmacological knowledge. 75 questionnaires were distributed to an equal number of detailers. The questionnaires were composed of two parts. In the first one, several questions about their profession were posed. ...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Hevia A,López-Valpuesta FJ,Vázquez JA,Castellanos A

    更新日期:1993-10-01 00:00:00

  • [Study of costs associated with catheter-related bacteremia].

    abstract:BACKGROUND:Nosocomial infection (NI) is associated with an increase in resource consumption. The estimation of extra costs attributable to NI in a group of patients with catheter-related bacteremia (CRB) was the objective of the present study. METHODS:A matched case-control, study was conducted in a cohort population....

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Morís de la Tassa J,Fernández Muñoz P,Antuña Egocheaga A,Gutiérrez del Río MC,de la Fuente García B,Cartón Sánchez JA

    更新日期:1998-10-01 00:00:00

  • [Should we use oral replacement for vitamin B12 deficiency as the first option of treatment?].

    abstract:OBJECTIVE:Analyze whether the tablets available in Spain are useful for oral replacement in the treatment of vitamin B12 deficiency. METHODS:From June 2003 to December 2005, patients with vitamin B12 deficiency attended at the Internal Medicine Clinic, were offered the possibility of starting or switching to oral ther...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:10.1157/13101846

    authors: Rabuñal Rey R,Monte Secades R,Peña Zemsch M,Bal Alvaredo M,Gómez Gigirey A

    更新日期:2007-04-01 00:00:00

  • [Atypical radiologic manifestations of Pneumocystis carinii pneumonia].

    abstract::Pneumonia due to Pneumocystis carinii (PC) is characterized, in most cases, by the existence of infiltrates of interstitium or bilateral interstitium-alveolar type on the thorax radiography. However atypical radiological findings associated with this type of opportunistic infection are being described more and more fr...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: García-Casasola G,Insausti MD,Viñuelas J,Amarillas L,Huergas MJ,Renedo G,Roca V

    更新日期:1992-09-01 00:00:00

  • [Respiratory function tests. Differences between smokers and non-smokers. Effects of withdrawal].

    abstract::The purpose of this study is to determine the characteristics of spirometric performance in a group of smokers and to carry out a prospective study of the changes in ventilatory lung function after smoking withdrawal. The ventilatory lung function was studied in 90 smokers and 30 non-smokers. Afterwards the smokers we...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Aparici M,Fernández González AL,Alegría E

    更新日期:1993-03-01 00:00:00

  • [Bronchiolo-alveolar carcinoma: review of 14 cases].

    abstract::Fourteen cases are revised of bronchiolalveolar carcinoma (BAC) diagnosed in our institution from 1980 to 1992. The time interval from clinical manifestations to diagnosis was 5.13 +/- 6.01 months. The incidence of smokers in the population was 42.8%. Clinical findings were non-specific, except in three cases, consist...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Máiz L,Flandes J,Perpiñá A,Fogué L,Pérez-Rodríguez E

    更新日期:1994-12-01 00:00:00

  • [Abscessing rhombencephalitis caused by Listeria in an iummunodepressed patient].

    abstract::The cerebral trunk infection by Listeria monocytogenes is a very rare process, with only 24 described cases and only 2 in immunodepressed patients. We present a new case of cerebral trunk encephalitis caused by Listeria in a patient diagnosed of Polyarteritis nodosa on steroids and cyclophosamide treatment and fatal e...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Villar Rodríguez JL,Jiménez Mejías ME,Andreu Alvarez J,Cuello Contreras JA,Andrada Becerra E,Fernández Alonso J

    更新日期:1990-11-01 00:00:00

  • [Alterations in osmoregulation in the elderly].

    abstract::In the present work we study the modifications in hydrosaline metabolism which occurred in two groups of healthy male individuals, one consisting of 15 young men (mean age of 20 years) and the other of 30 elderly subjects (mean age of 75 years) when the thirst test was performed for 48 hours. After performing the thir...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Jiménez Bravo de Laguna S,Sosa Henríquez M,Limiñana Cañal JM,Font de Mora Turón A,Viqueras Pérez JF,Betancor León P

    更新日期:1991-07-01 00:00:00

  • [Empty sella turcica with intrasellar herniation of the optic chiasm].

    abstract::We here present the case of a patient who starts with a progressive vision loss, observing in the radiologic exam herniation of optic chiasma in a primary empty sella turcica. Based on this case, we have performed a review of this clinical picture and point out the most important aspects in the literature. ...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Arrieta FJ,Carrasco M,Campos JM,Grant C,Ruiz-Barnés J,Herrera Pombo JL

    更新日期:1991-04-01 00:00:00

  • [Complications and yield of percutaneous liver biopsy with ultrasonographic marking].

    abstract:OBJECTIVES:To describe the complications and the diagnostic yield of percutaneous liver biopsies performed under ultrasonographic control in an Internal Medicine department. PATIENTS AND METHODS:A total of 750 percutaneous liver biopsies were performed at the Internal Medicine department of our institution during the ...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:10.1016/s0014-2565(03)71251-x

    authors: Campos Franco J,Alende Sixto MR,González Quintela A,Otero Antón E,Tomé Martínez de Rituerto S,Torre Carballada JA

    更新日期:2003-05-01 00:00:00

  • [Aluminum absorption in the presence of normal kidney function: the effect of the pH].

    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:

    authors: Olaizola Ottonello I,Serrano Arias M,Vizoso Piñeiro F,Rodrigo Saez L,García Morán M,Cannata Andía JB

    更新日期:1991-05-01 00:00:00

  • [Effect of the availability of a medicalized mobile ICU (MMICU) on the hospital admissions after an out-of-hospital cardiorespiratory arrest (OH-CRA)].

    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

    authors: Alvarez González M,Cambronero Galache JA,Nevado Losada E,Trascasa Muñoz de la Peña M,de la Fuente O'Connor ME,Sánchez García M

    更新日期:2003-11-01 00:00:00

  • [The risk of an organic lesion in mild craniocerebral injuries with loss of consciousness].

    abstract::Despite its high frequency, there is not a consensus for the management of a patient with mild head trauma. In this prospective study we analyzed wether the transient loss of consciousness was associated with a higher risk of cranioencephalic injury in function of patient's age. Fifty-two patients with a Glasgow score...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Rodríguez Cerrillo M,Borreguero Martínez E,Jiménez de Diego L

    更新日期:1999-10-01 00:00:00

  • [Socioeconomic effects of human brucellosis].

    abstract::The socio-economic cost of human brucellosis is analyzed. One hundred and seven patients are included in this study, 75 males (70.09%) and 32 females (29.91), diagnosed of brucellosis in the Internal Medicine Department of the Regional Hospital "Carlos Haya" in Málaga from the 1st of October 1984 to the 31st of Decemb...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Colmenero Castillo JD,Cabrera Franquelo FP,Hernández Márquez S,Reguera Iglesias JM,Pinedo Sánchez A,Castillo Clavero AM

    更新日期:1989-12-01 00:00:00

  • [RECALMIN. Patient care in the internal medicine units of the Spanish national health system].

    abstract:OBJECTIVES:To perform a situation analysis of the care provided by internal medicine units (IMUs) in Spain and to develop, based on this analysis, proposals for improving the quality of care in these units. MATERIAL AND METHODS:A descriptive, cross-sectional study of the IMUs of general acute care hospitals of the Spa...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:10.1016/j.rce.2016.01.002

    authors: Zapatero Gaviria A,Barba Martín R,Román Sánchez P,Casariego Vales E,Diez Manglano J,García Cors M,Jusdado Ruiz-Capillas JJ,Suárez Fernández C,Bernal JL,Elola Somoza FJ

    更新日期:2016-05-01 00:00:00

  • [Severe poisoning with digitalis treated by the administration of anti-digoxin antibodies].

    abstract::A case report of severe digitalis poisoning in a patient with prosthetic heart valve is presented. He complained of nausea, vomiting, drowsiness, temporal disorientation and lethargy. The electrocardiogram showed idioventricular rhythm, and plasma levels of digoxin were 6.78 ng/ml. Predisposing factors por digitalis p...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:

    authors: Delgado Jiménez JF,Casillas Villamor A,Gómez Pajuelo C,Sáenz de la Calzada C

    更新日期:1991-11-01 00:00:00

  • [Painful legs and moving toes syndrome].

    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

    authors: Bermejo PE,Cruz A

    更新日期:2007-05-01 00:00:00

  • Status of oral anticoagulant treatment in patients with nonvalvular atrial fibrillation in Spain. REACT-AF Study.

    abstract:BACKGROUND AND OBJECTIVES:Oral anticoagulant therapy is complex due to the need for control and the hemorrhagic risk the therapy entails. This study aims to determine the standard clinical practice in the treatment for preventing stroke in patients with nonvalvular atrial fibrillation (NVAF) in Spain. PATIENTS AND MET...

    journal_title:Revista clinica espanola

    pub_type: 杂志文章

    doi:10.1016/j.rce.2014.08.008

    authors: de Andrés-Nogales F,Oyagüez I,Betegón-Nicolás L,Canal-Fontcuberta C,Soto-Álvarez J

    更新日期:2015-03-01 00:00:00

  • [Cutaneous larva migrans: 34 outside cases].

    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

    authors: Puente Puente S,Bru Gorraiz F,Azuara Solís M,Colomo Gómez C,González Lahoz JM

    更新日期:2004-12-01 00:00:00

  • [Admissions estimate and inadequate stays in a regional hospital].

    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:

    authors: Mirón Canelo JA,Orosco Pedemonte JA,Alonso Sardón M,Sáenz González MC

    更新日期:2000-12-01 00:00:00

  • Diagnosis of deep vein thrombosis.

    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

    authors: Muñoz Rodríguez FJ

    更新日期:2020-06-27 00:00:00

  • [Patient assessment of the long-term benefits of surgery in inflammatory bowel disease].

    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

    authors: Medina C,Vergara M,Casellas F,Naval J,Lara F,Malagelada JR

    更新日期:2000-09-01 00:00:00