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1.
Med Oral Patol Oral Cir Bucal ; 26(5): e661-e668, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34023845

RESUMO

BACKGROUND: Cancer involves numerous physical, psychological and emotional changes and has a negative impact on patients. Although there are a wide variety of questionnaires for general use in patients with cancer, very few are available that assess the pain, disability and craniomandibular functionality of patients with head and neck cancer (HNC) in a more specific manner. The purpose of this study is to present the preliminary behavior of the CF-PDI in its reduced version adapted for patients with HNC. MATERIAL AND METHODS: A total of 61 patients with HNC were included in a study to preliminarily analyze the internal consistency of the instrument, the convergent validity and the floor and ceiling effects. All the patients completed the informed consent document and a battery of 5 questionnaires: The Numerical Rating Scale (NRS), the Tampa Scale for Kinesiophobia for Temporomandibular Disorders (TSK-TMD), the Pain Catastrophizing Scale (PCS), the Quality of Life Questionnaire in patients with HNC (QLQ-HN) and the reduced version of the Craniofacial Pain and Disability Inventory (CF-PDI-11). Patients also performed 2 physical tests: measurements of the pain threshold on the masseter muscle and on the distal phalanx of the first finger; and the maximum mouth opening in neutral head position. RESULTS: Cronbach's α coefficient showed a very high internal consistency of 0.92. In terms of convergent validity, a statistically significant correlation was found between the CF-PDI-11 and the following variables: NRS, TSK-TMD, PCS, QLQ-HN, the threshold of pain in the distal phalanx of the first finger and the maximum interincisal opening. However, 21.3% of patients obtained the lowest possible score. The strongest correlation was found between the CF-PDI-11 and the QLQ-HN (r = 0.85, p <0.01). CONCLUSIONS: The preliminary version of the CF-PDI-11 shows that it could be a valid and reliable instrument to measure pain, disability and quality of life in patients with HNC.


Assuntos
Neoplasias de Cabeça e Pescoço , Qualidade de Vida , Dor Facial , Neoplasias de Cabeça e Pescoço/complicações , Humanos , Medição da Dor , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários
2.
Radiologia ; 56(5): 413-9, 2014.
Artigo em Espanhol | MEDLINE | ID: mdl-24508056

RESUMO

Laparoscopic Roux-en-Y bypass is being increasingly used for weight reduction in patients with morbid obesity. Unfortunately, some complications can occur after this procedure, the most frequent being intestinal obstruction (due to stenosis of the anastomosis at the distal end of the loop, internal hernias, bands, and adhesions), anastomotic leaks, and bleeding. This article provides basic knowledge about the surgical technique and its correlation with the common postoperative changes with the aim of facilitating the interpretation of CT findings and the identification of postoperative complications in these patients.


Assuntos
Derivação Gástrica/métodos , Laparoscopia , Complicações Pós-Operatórias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
3.
Radiologia ; 53(5): 456-61, 2011.
Artigo em Espanhol | MEDLINE | ID: mdl-21641624

RESUMO

OBJECTIVE: To evaluate whether breast density influences the sensitivity of a computer-assisted detection (CAD) system for the detection of breast cancer. MATERIAL AND METHODS: We prospectively studied 8750 digital mammograms with an associated CAD system. We used BI-RADS criteria to classify breast density. We calculated the overall sensitivity of the radiologist and of the CAD system, as well as the sensitivity for each projection and type of finding in relation to the mammographic density of the breast. Finally, we analyzed the interval carcinomas. We used SPSS 11 for all statistical analyses. RESULTS: The overall sensitivity of the CAD system was 88.5% (95% CI: 83.2-92.7%), and the overall sensitivity of the radiologist was 93.5% (95% CI: 84.4%-95.5%). The sensitivity of the craniocaudal view was 81.6% (95% CI: 76.5-90.7%) vs 76.5% (95% CI: 69.3-89.3%) for the mediolateral oblique view. The sensitivity for microcalcifications was 98.6% (95% CI: 96.5-99.7%), and the sensitivity for masses 83.4% (95% CI: 81.2-91.7%). We detected discrepancies smaller than 20% both for microcalcifications present in the four types of densities and for masses with densities 1 and 2. In masses with density 3 the discrepancy was 20.8% and in those with density 4 it was 55%. The CAD system failed to mark only 9.1% (9/94) of the cancers presenting as masses. Half of the interval carcinomas were found in type 4 density and 75% manifested as masses, asymmetries, and distortions. The CAD system had marked 35.7% of the carcinomas. CONCLUSIONS: The craniocaudal view was more sensitive, although this difference was not statistically significant. The sensitivity of CAD was high for microcalcifications in all four density types; however, CAD's sensitivity for masses was low in density types 3 and 4. The CAD system only failed to mark 9.1% of the cancers presenting as masses but was not sensitive for the other two radiological findings included in this marking. Half of the interval carcinomas occurred in type 4 densities and 35.7% had been marked by the CAD system.


Assuntos
Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/patologia , Mamografia/métodos , Interpretação de Imagem Radiográfica Assistida por Computador , Adulto , Idoso , Feminino , Departamentos Hospitalares , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Sensibilidade e Especificidade
4.
Clin Microbiol Infect ; 13(10): 1008-11, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17711486

RESUMO

Although asymptomatic carriers of Pneumocystis jirovecii with cystic fibrosis (CF) have been described previously, the molecular epidemiology of P. jirovecii in CF patients has not yet been clarified. This study identified the distribution and dynamic evolution of P. jirovecii genotypes based on the mitochondrial large-subunit (mt LSU) rRNA gene. The mt LSU rRNA genotypes of P. jirovecii isolates in 33 respiratory samples from CF patients were investigated using nested PCR and direct sequencing. Three different genotypes were detected: 36.3% genotype 1 (85C/248C); 15.1% genotype 2 (85A/248C); 42.4% genotype 3 (85T/248C); and 6% mixed genotypes. Patients studied during a 1-year follow-up period showed a continuous colonisation/clearance cycle involving P. jirovecii and an accumulative tendency to be colonised with genotype 3.


Assuntos
Portador Sadio/epidemiologia , Fibrose Cística/complicações , Epidemiologia Molecular , Pneumocystis carinii/genética , Pneumonia por Pneumocystis/epidemiologia , Adolescente , Adulto , Portador Sadio/microbiologia , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Mitocôndrias/genética , Pneumocystis carinii/classificação , Pneumonia por Pneumocystis/microbiologia , Reação em Cadeia da Polimerase , RNA Ribossômico/genética , Análise de Sequência de DNA , Espanha/epidemiologia
5.
Clin Microbiol Infect ; 12(3): 231-5, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16451409

RESUMO

A prospective study was conducted to determine the prevalence of colonisation by Pneumocystis jirovecii in 80 consecutive patients who required bronchoscopy and bronchoalveolar lavage (BAL) following suspicion of interstitial lung disease (ILD). The mtLSU rRNA gene of P. jirovecii was identified by nested PCR in BAL samples. Patients with ILDs were divided into three groups: group A comprised those with idiopathic interstitial pneumonias; group B comprised those with sarcoidosis; and group C comprised those with other ILDs. The overall prevalence of P. jirovecii carriage was 33.8%, with colonisation rates of 37.8%, 18.8% and 37% in groups A, B and C, respectively (p not significant). There were more smokers among the carriers, but there were no other significant differences between carriers and non-carriers. The high prevalence of P. jirovecii carriers found among immunocompetent patients with ILDs in Spain suggests a possible role of P. jirovecii in the natural history of these diseases.


Assuntos
Doenças Pulmonares Intersticiais/epidemiologia , Pneumocystis carinii , Pneumonia por Pneumocystis/epidemiologia , Adulto , Idoso , Líquido da Lavagem Broncoalveolar/microbiologia , Feminino , Humanos , Imunocompetência , Masculino , Pessoa de Meia-Idade , Pneumocystis carinii/genética , Pneumocystis carinii/isolamento & purificação , Prevalência , Estudos Prospectivos , RNA Fúngico/genética , RNA Ribossômico/genética , Espanha/epidemiologia
6.
QJM ; 98(8): 581-8, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15983023

RESUMO

BACKGROUND: Hypertension is a major cardiovascular risk factor, but knowledge about the real magnitude of the problem and its determinants is lacking. AIM: To assess control of hypertension and evaluate medical resource use, in patients at high risk of cardiovascular disease. DESIGN: Multicentric cross-sectional study. METHODS: We collected data for 2205 adult patients from 36 centres, representative of all regions of Spain. Patients had attended out-patient clinics from July 2002 to August 2003, had an absolute cardiovascular risk > or =20% at 10 years (according to the Framingham guidelines), and had a diagnosis of hypertension. Pregnant and terminally ill patients were excluded. RESULTS: Hypertension was inadequately controlled in 1384 patients (62.8%). LDL cholesterol was higher in patients with uncontrolled hypertension (median 130.2 vs. 120.0 mg/dl, p < 0.001). Haemoglobin A(1c) in diabetic patients was also greater in those with uncontrolled hypertension (median 7.10% vs. 6.90%, p = 0.010). Uncontrolled hypertension was associated with the following variables, in descending strength of association: higher LDL cholesterol, taking antihypertensive medication, living in non-metropolitan areas, and higher body mass index. DISCUSSION: Hypertension is poorly controlled in most patients with a high risk of cardiovascular disease. Uncontrolled hypertension is frequently associated with poor control of other risk factors.


Assuntos
Doenças Cardiovasculares/prevenção & controle , Hipertensão/terapia , Idoso , Anti-Hipertensivos/uso terapêutico , Estudos Transversais , Feminino , Serviços de Saúde/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Espanha
7.
Clin Microbiol Infect ; 11(12): 1012-5, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16307556

RESUMO

Pneumocystis jirovecii colonisation may occur among cystic fibrosis (CF) patients because of their underlying pulmonary disease. A wide epidemiological analysis was performed among CF patients from Spain to assess the prevalence of P. jirovecii colonisation and the distribution of different genotypes. P. jirovecii was identified by nested PCR targeting the mitochondrial large-subunit rRNA gene from sputum samples or oropharyngeal washes. The genotype was determined by direct sequencing. The prevalence of P. jirovecii colonisation among 88 consecutive CF patients was 21.5%. The polymorphisms identified were 85C/248C (45.4%), 85T/248C (27.2%) and 85A/248C (18.1%); in one case, a mix of genotypes was found. Colonisation was more frequent in subjects aged < 18 years (25.5% vs. 15.1%). Among the patients studied, 20.8% received treatment with azithromycin; all of these patients were colonised with P. jirovecii, but none developed Pneumocystis pneumonia (PcP) during a 1-year follow-up period. Concordance in the colonisation status of siblings suggested a common source of infection or person-to-person transmission.


Assuntos
Fibrose Cística/complicações , Pneumocystis carinii/genética , Pneumonia por Pneumocystis/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Pneumocystis carinii/crescimento & desenvolvimento , Pneumocystis carinii/isolamento & purificação , Pneumonia por Pneumocystis/complicações , Pneumonia por Pneumocystis/microbiologia , Prevalência , Espanha/epidemiologia
9.
Clin Infect Dis ; 39(1): 123-8, 2004 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-15206063

RESUMO

This study describes the genotype distribution of Pneumocystis jiroveci in 79 respiratory samples obtained from 15 patients with acquired immunodeficiency syndrome (AIDS) with P. jiroveci pneumonia and 64 human immunodeficiency virus-negative subjects with different chronic pulmonary diseases. The genotyping was based in analysis of 2 independent genetic loci: the mitochondrial large subunit ribosomal RNA (mt LSU rRNA) fragment (assessed by direct sequencing) and the gene for dihydropteroate synthase (DHPS; assessed by restriction fragment-length polymorphism). The mt LSU rRNA analysis revealed the presence of 3 different polymorphisms for both populations. The major genotype, 85C/248C, was found to be significantly higher in patients with AIDS and P. jiroveci pneumonia than in patients with pulmonary disease. The rate of genotypes 85A/248C and 85T/248C was similar in both groups. The analysis of DHPS genotypes assesses the prevalence of its 4 possible genotypes, with 35.5% of genotypes related to sulfa resistance. The data suggest a common source of infection between both groups.


Assuntos
Frequência do Gene , Genótipo , Pneumocystis carinii/genética , Infecções por HIV/microbiologia , Humanos , Pneumopatias/microbiologia , Pneumonia por Pneumocystis/microbiologia , Espanha
10.
J Virol Methods ; 46(3): 313-32, 1994 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8006112

RESUMO

An immunosorbent electron microscopical (ISEM) method, the Protein A-coated bacteria technique/gold, (PA-CBT/G), was developed for the detection of non-particulate soluble antigens. The method is based on immunotrapping of antigens on antibody coated, glutaraldehyde cross-linked, Protein A-rich, Staphylococcus aureus bacteria. The 'trapped' antigen is then identified by colloidal-gold immunolabelling. Gold particles are observed in a scanning/transmission electron microscope by analysis of backscattered electrons. With this method it was possible to detect the presence of p24 HIV antigens in blood, semen, saliva, crevicular and cerebrospinal fluids from HIV seropositive cases. Although the PA-CBT/G identified correctly the p24 antigen in only 80% of the ELISA HIV-antigen positive sera, it detected, more frequently than ELISA, HIV-antigen in seminal and oral fluids. The PA-CBT/G method could thus be useful to fully characterise individual HIV excretion patterns in body fluids other than sera even from patients negative for HIV-antigen by ELISA.


Assuntos
Líquidos Corporais/microbiologia , Proteína do Núcleo p24 do HIV/análise , Infecções por HIV/diagnóstico , HIV-1/imunologia , Técnicas de Imunoadsorção , Reagentes de Ligações Cruzadas , Elétrons , Ensaio de Imunoadsorção Enzimática , Glutaral , Humanos , Imunoglobulina G/imunologia , Masculino , Microscopia Eletrônica de Varredura/métodos , Microscopia Imunoeletrônica/métodos , Espalhamento de Radiação , Proteína Estafilocócica A/imunologia , Staphylococcus aureus/imunologia , Staphylococcus aureus/ultraestrutura
11.
Clin Microbiol Infect ; 10(8): 770-2, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15301686

RESUMO

The modes of infection and transmission of Pneumocystis jiroveci remain unclear. This study explored the relationship between the incidence of infection and climatic factors. In total, 536 cases of P. jiroveci infection were identified in the period 1994-1998, with an inverse correlation between the incidence of Pneumocystis pneumonia and the minimum mean ambient temperature (Spearman correlation coefficient: r - 0.30; p 0.02; ARIMA model: r - 0.250, p 0.07). The highest number of cases occurred in winter (anova test, p < 0.05), and there was a clear season-related incidence of P. jiroveci infection.


Assuntos
Clima , Pneumocystis carinii , Pneumonia por Pneumocystis/epidemiologia , Humanos , Incidência , Estações do Ano , Espanha/epidemiologia
12.
Clin Microbiol Infect ; 10(11): 1029-31, 2004 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15522012

RESUMO

Pneumocystis infection occurs worldwide, and most individuals test seropositive for Pneumocystis early in childhood. Little is known about the epidemiology of this infection in western Europe. The seroprevalence of Pneumocystis infection in 233 Spanish children was determined in a community study by immunoblot analysis of sera. The overall seroprevalence was 73%, with an age-related increase from 52% at 6 years to 66% at 10 years and 80% at 13 years. The data indicated a high seroprevalence of Pneumocystis infection in healthy Spanish children, thereby demonstrating that this pathogen is widespread in southern Spain.


Assuntos
Anticorpos Antifúngicos/sangue , Infecções por Pneumocystis/epidemiologia , Pneumocystis/imunologia , Adolescente , Animais , Criança , Feminino , Humanos , Masculino , Infecções por Pneumocystis/microbiologia , Pneumocystis carinii/imunologia , Ratos , Ratos Wistar , Espanha/epidemiologia
13.
Clin Microbiol Infect ; 10(7): 673-6, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15214886

RESUMO

In order to investigate the impact of Pneumocystis carinii infection in southern Spain following the introduction of highly active anti-retroviral therapy (HAART), all cases of pneumocystosis between 1998 and 1999 were identified from data compiled by the national surveillance system. In total, 498 cases of pneumocystosis were recorded, of which 87% involved HIV-positive patients. The mean age, length of hospital stay and mortality were higher for HIV-negative patients. There was a higher number of cases in winter. Despite HAART implementation, pneumocystosis remains a significant health problem for both HIV-positive and HIV-negative patients.


Assuntos
Infecções Oportunistas Relacionadas com a AIDS/epidemiologia , Infecções por HIV/complicações , Soronegatividade para HIV , Pneumonia por Pneumocystis/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Terapia Antirretroviral de Alta Atividade , Criança , Feminino , Infecções por HIV/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Pneumocystis carinii , Pneumonia por Pneumocystis/mortalidade , Prevalência , Estações do Ano , Espanha/epidemiologia
14.
J Neurol Sci ; 100(1-2): 152-4, 1990 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-2089132

RESUMO

sHLA are soluble class I antigens produced by lymphocytes on early activation. We have studied the sHLA index IH = (CSF sHLA/serum sHLA)/(CSF albumin/serum albumin), which reflects the intrathecal synthesis (ITS) of sHLA in 23 intravenous drug abusers with central nervous system (CNS) HIV infection. Their mean IH value was increased and directly correlated with ITS of IgG against HIV when the total group of patients was studied; however, 8 of them, who suffered from concomitant tuberculous meningitis, had a decreased IH. The relationship between this index, blood-brain barrier (BBB) function, and HIV and tuberculous infection was also studied. We consider IH an index of lymphocyte activation within the CNS. Its decrease in patients with CNS HIV infection may reflect the presence of a meningeal opportunistic infection due to Mycobacterium tuberculosis.


Assuntos
Infecções por HIV/imunologia , Antígenos HLA/líquido cefalorraquidiano , Infecções Oportunistas/imunologia , Tuberculose Meníngea/imunologia , Complexo AIDS Demência/líquido cefalorraquidiano , Complexo AIDS Demência/imunologia , Barreira Hematoencefálica , Anticorpos Anti-HIV/análise , Infecções por HIV/líquido cefalorraquidiano , Infecções por HIV/complicações , Antígenos HLA/biossíntese , Humanos , Imunoglobulina G/análise , Ativação Linfocitária , Infecções Oportunistas/líquido cefalorraquidiano , Infecções Oportunistas/complicações , Tuberculose Meníngea/líquido cefalorraquidiano , Tuberculose Meníngea/complicações
15.
J Inorg Biochem ; 46(1): 17-22, 1992 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-1578225

RESUMO

The interaction of vitamin B6 pyridoxine with cadmium acetate in ethanolic solution has been studied. The new compound Cd(PN-H)(OOCCH3) (PN-H = pyridoxinato anion) was isolated and its structure studied in the solid state by IR and 13C and 113Cd CP/MAS NMR spectroscopies. The effect of pyridoxine on survival rate among male Sprague rats injected intraperitoneally with 5 mg CdCl2.H2O/kg was also investigated. Vitamin treatment seems to increase (Protocol C) or does not affect the cadmium lethality. Although the analysis of the metal burden in some organs seems to suggest a light increase of the cadmium level in the liver, this change has no significance at a statistical level.


Assuntos
Cádmio/metabolismo , Piridoxina/metabolismo , Animais , Cádmio/administração & dosagem , Cádmio/química , Cádmio/toxicidade , Cloreto de Cádmio , Cloretos/administração & dosagem , Cloretos/toxicidade , Interações Medicamentosas , Rim/efeitos dos fármacos , Rim/metabolismo , Fígado/efeitos dos fármacos , Fígado/metabolismo , Espectroscopia de Ressonância Magnética , Masculino , Piridoxina/química , Piridoxina/farmacologia , Ratos , Ratos Endogâmicos , Solubilidade , Espectrofotometria Infravermelho
16.
J Inorg Biochem ; 41(1): 1-6, 1991 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-2019828

RESUMO

The survival rate was high among male Sprague rats treated with 0.15 mg/kg vitamin B12 (cyanocobalamine) after injection of 5 mg/kg CdCl2.H2O (LD50). The cadmium content of the liver and, for some protocols, in the kidney was significantly reduced in survivors. According to UV-V and multinuclear (1H, 13C, 31P, and 113Cd) magnetic resonance spectroscopy no direct interaction seems to take place between cyanocobalamine and CdCl2 in aqueous solution at pH 4.5. An indirect mechanism is put forward to explain the antidotal activity.


Assuntos
Cádmio/toxicidade , Vitamina B 12/farmacologia , Animais , Cádmio/farmacocinética , Cloreto de Cádmio , Rim/efeitos dos fármacos , Rim/metabolismo , Dose Letal Mediana , Fígado/efeitos dos fármacos , Fígado/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Masculino , Ratos , Ratos Endogâmicos , Distribuição Tecidual
17.
Eur J Cardiothorac Surg ; 20(4): 799-802, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11574228

RESUMO

OBJECTIVES: In spite of the high prevalence of Pneumocystis carinii (PC) pneumonia in immunocompromised patients, little is known about the epidemiological characteristics of this infection, and whether the cases of PC pneumonia in immunosuppressed patients are the result of a reactivation of a latent infection or a due to a recent infection is unknown. The aim of this study was to provide information about the epidemiological characteristics of PC pneumonia in a cohort of heart transplant (HT) recipients when compared with the epidemiology of PC infection in a cohort of chronic sputum producers (CSP) representative of the general population of the same geographical area. METHODS: We identified all the cases of PC pneumonia in the cohort of 72 subjects who underwent cardiac transplantation at our institution between January 1991 and December 1996 and compared them with the cases of PC infection identified in a non-selected cohort of 34 CSP. This second group was included to obtain an approximation of the frequency of PC carriers in the general population. Identification of PC was accomplished through customary stain techniques and immunofluorescence with monoclonal antibodies. RESULTS: Of the 72 HT recipients four (5.5%) developed PC pneumonia, but one had two episodes. Only one had received primary chemoprophylaxis, but developed PC pneumonia 2 months after discontinuing prophylactic therapy. PC pneumonia episodes were produced 53, 102, 230, 181 and 772 days after the moment of transplant, respectively. PC was identified in two (5.8%) of the 34 CSP. No significant differences were found when the accumulative incidences of PC pneumonia in HT patients and PC infection in CSP were compared (P=0.7). CONCLUSIONS: The frequency of PC pneumonia among HT patients is the same as the frequency of PC infection in the general population. This observation and the long interval between transplantation and the development of PC pneumonia observed in the study support the hypothesis that the occurrence of PC pneumonia in immunocompromised patients might be from a new infection rather than from the reactivation of latent organisms. Therefore, continuous prophylaxis might be indicated in areas with a high prevalence of PC for patients at highest risk.


Assuntos
Transplante de Coração , Pneumonia por Pneumocystis/etiologia , Complicações Pós-Operatórias/etiologia , Idoso , Portador Sadio , Doença Crônica , Estudos de Coortes , Estudos Transversais , Feminino , Transplante de Coração/imunologia , Humanos , Tolerância Imunológica/imunologia , Masculino , Pessoa de Meia-Idade , Pneumonia por Pneumocystis/epidemiologia , Pneumonia por Pneumocystis/imunologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/imunologia , Recidiva , Estudos Retrospectivos
18.
Rev Esp Cardiol ; 43(3): 192-4, 1990 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-2333404

RESUMO

We report a case of a 17-year-old woman with Kearns-Sayre Syndrome who developed a high degree atrioventricular block. She had intraventricular conduction disturbances with normal atrioventricular conduction in previous electrocardiograms. The diagnosis criteria of this rare syndrome are commented on, and we describe the electrophysiological features, prognostic and treatment that atrioventricular conduction disturbances produce in these patients. We emphasize the necessary collaboration between neurologists and cardiologists in the early recognition of the conduction disturbances for implanting a prophylactic pacemaker.


Assuntos
Bloqueio Cardíaco/complicações , Síndrome de Kearns-Sayre/complicações , Oftalmoplegia/complicações , Adolescente , Eletrocardiografia , Feminino , Bloqueio Cardíaco/fisiopatologia , Humanos
19.
Med Clin (Barc) ; 109(11): 421-4, 1997 Oct 04.
Artigo em Espanhol | MEDLINE | ID: mdl-9379733

RESUMO

BACKGROUND: 21-hydroxilase deficiency accounts for over 90% of all cases of congenital adrenal hyperplasia (CAH). There is a non-negligible incidence of both severe and nonclassical forms of this genetic disorder. Enzyme deficiency is due to mutations in the gene encoding adrenal 21-hydroxylase (named CYP 21B) and is inherited in an autosomical recesive way. Complete or partial impairment of enzyme activity has been correlated with the different clinical forms of the disease. PATIENTS AND METHODS: In the present paper CYP 21B gene analysis results obtained in a family with two kindred affected by a nonclassical form of the disease are shown. Clinical assessment of these two kindred showed a very mild form of the disease, whereas biochemical results suggested a late-onset partial 21-hydroxylase deficiency. Genotyping for deletions and 10 point mutations in the CYP 21B gene was performed by Southern blot analysis and polymerase chain reaction (PCR) allele-specific oligonucleotide (ASO) hybridation technique. RESULTS: Molecular genetic analysis performed in the two affected patients and two further relatives allowed us to detect the presence of different mutations in the two alleles of the CYP 21B gene. One of these mutations was severe (655G) and came from maternal line, whereas the other was mild (Val281Leu) and originated in paternal line. CONCLUSION: Molecular genetic analysis allows the possibility of finding severe (and non-expected) mutations in patients with clinically mild and late-onset forms of the 21-hydroxylase deficiency.


Assuntos
Hiperplasia Suprarrenal Congênita/genética , Mutação , Esteroide 21-Hidroxilase/genética , Adolescente , Hiperplasia Suprarrenal Congênita/enzimologia , Adulto , Alelos , Criança , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Masculino , Linhagem
20.
Med Clin (Barc) ; 109(17): 669-72, 1997 Nov 15.
Artigo em Espanhol | MEDLINE | ID: mdl-9488957

RESUMO

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH), in its severe forms, produces virilization of the external genitalia of the affected female fetus. Early treatment with dexamethasone of the pregnant mother at risk of a fetus with 21-OH deficiency avoids the masculinization of the affected female fetus. We present a pregnant mother, where the prenatal diagnosis was established by DNA analysis of a chorionic villous sample obtained in the 9th week of gestation. Molecular analysis showed the female fetus to be affected of 21-OH deficiency. Maternal treatment with dexamethasone started on the 6th week of gestation has prevented the virilization of the affected baby. No significant side effects have been encountered. Prenatal diagnosis and treatment for 21-OH deficiency is effective and safe, as is described in the literature. This is the first case in Spain where both prenatal molecular diagnosis and treatment for 21-OH deficiency have been reported.


Assuntos
Hiperplasia Suprarrenal Congênita , Hiperplasia Suprarrenal Congênita/diagnóstico , Amostra da Vilosidade Coriônica , Hiperplasia Suprarrenal Congênita/genética , DNA/análise , Feminino , Humanos , Mutação , Linhagem , Gravidez
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