Assuntos
Exoma , Predisposição Genética para Doença , Feto , Estudos de Associação Genética , HumanosRESUMO
OBJECTIVES: Cardiovascular malformations (CVMs) are reported to be common (approximately 75%) in patients with deletion 22q11.2 (del22q11) syndrome. To better understand why deletions go unrecognized, we characterized the phenotype in deleted individuals in two large kindreds with particular emphasis on the presence or absence of CVM. STUDY DESIGN: After the diagnosis of del22q11 in two unrelated probands with CVM, we sequentially evaluated family members with clinical evaluation and cytogenetic analysis. RESULTS: Del22q11 was identified in 13 individuals; all exhibited characteristic dysmorphic facial features, but a CVM was present in only 6 of 13 (46%) individuals. CONCLUSIONS: We speculate that in the absence of CVM, diagnosis of del22q11 is hampered by a failure to recognize extracardiac features of the del22q11 syndrome spectrum. The data highlight the need for primary care physicians and specialists to familiarize themselves with the extracardiac stigmata of del22q11 to ensure timely diagnosis in all family members.
Assuntos
Anormalidades Cardiovasculares/genética , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Anormalidades Craniofaciais/genética , Adulto , Anormalidades Cardiovasculares/epidemiologia , Fácies , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Deficiências da Aprendizagem/genética , Masculino , Linhagem , Fenótipo , Distúrbios da Fala/genética , SíndromeRESUMO
A tetrapeptide and a recombinant protein, each representing 4 immunodominant epitopes of Trypanosoma cruzi, were tested by use of ELISA for the detection of serum antibodies. Sera from individuals with Chagas' disease, including persons untreated and successfully or unsuccessfully treated, were tested. These assays detected antibody in 100% of the parasitemias. The antibody reactivity decreased based on the success of treatment. Higher sensitivity was observed for tetrapeptide/recombinant protein assays than for lysate-based ELISA, and specificity was improved, particularly with Leishmania sera. The results indicate that multiepitope antigens provide a more sensitive and specific alternative to lysate for detection of anti-T. cruzi antibodies, as required for developing blood screening assays.
Assuntos
Anticorpos Antiprotozoários/sangue , Doença de Chagas/diagnóstico , Ensaio de Imunoadsorção Enzimática/métodos , Oligopeptídeos , Proteínas Recombinantes , Brasil/epidemiologia , Humanos , Epitopos Imunodominantes , Parasitemia/diagnóstico , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Diffuse cutaneous leishmaniasis (DCL) is characterized by the presence of numerous nonulcerated nodules and plaques containing large numbers of Leishmania amazonensis parasites and few lymphoid elements. The immune responses of DCL patients reflect severe antigen-specific T-cell deficiencies, while the antibody response to Leishmania antigens is often accentuated. We report herein on the Leishmania antigen-specific antibody subclass distribution in DCL patients and demonstrate that a dominant antigen contributing to the biased immunoglobulin G4 antibody subclass in sera of DCL patients is Leishmania heat shock protein 83.
Assuntos
Antígenos de Protozoários/imunologia , Proteínas de Choque Térmico/imunologia , Imunoglobulina G/sangue , Leishmania/imunologia , Leishmaniose Tegumentar Difusa/imunologia , Proteínas de Protozoários/imunologia , Animais , Anticorpos Antiprotozoários/sangue , Anticorpos Antiprotozoários/imunologia , Brasil/epidemiologia , Humanos , Imunoglobulina G/imunologia , Leishmaniose Tegumentar Difusa/sangue , Leishmaniose Tegumentar Difusa/epidemiologiaRESUMO
The diagnosis of visceral leishmaniasis (VL), a serious and often fatal parasitic disease caused by members of the Leishmania donovani complex, remains problematic. Current methods rely on clinical criteria, parasite identification in aspirate material, and serology. The latter methods use crude antigen preparations lacking in specificity. A previously described cloned antigen, rK39, of Leishmania specific for all members of the L. donovani complex (L. chagasi, L. donovani, L. infantum) was very useful in the serodiagnosis by ELISA of both human and canine VL. The present study demonstrated that rK39 seroreactivity correlated with active disease. The sera from early or self-healing infected subjects reacted with leishmanial lysate and were generally nonreactive with rK39. These data demonstrate the utility of rK39 in the serodiagnosis of VL and as an indicator of active disease.
Assuntos
Anticorpos Antiprotozoários/sangue , Antígenos de Protozoários , Leishmania infantum/imunologia , Leishmaniose Visceral/diagnóstico , Leishmaniose Visceral/imunologia , Proteínas de Protozoários/imunologia , Animais , Especificidade de Anticorpos , Antígenos de Protozoários/genética , Biomarcadores , Brasil/epidemiologia , Criança , Clonagem Molecular , Reações Cruzadas , Cães , Ensaio de Imunoadsorção Enzimática , Humanos , Leishmania infantum/genética , Leishmaniose Visceral/epidemiologia , Proteínas de Protozoários/genética , Testes SorológicosAssuntos
Antígenos de Protozoários , Leishmania infantum/imunologia , Leishmaniose Visceral/diagnóstico , Proteínas de Protozoários , Doença Aguda , Animais , Cães , Ensaio de Imunoadsorção Enzimática/métodos , Estudos de Avaliação como Assunto , Humanos , Leishmaniose Visceral/sangue , Leishmaniose Visceral/epidemiologia , Leishmaniose Visceral/imunologia , Proteínas Recombinantes , Sensibilidade e Especificidade , Testes Sorológicos/métodosRESUMO
Recent restructuring of the quality assurance standards of the JCAHO and the benefits to be gained from assurance indicators are requiring clinical engineering support groups to manage their equipment inventories with greater precision. Technological enhancements in the database industry have provided these groups with a mechanism with which they can manage. Assessments of equipment reliability, departmental management, and quality assurance give supervisory staff an important tool for feedback.
Assuntos
Engenharia Biomédica/organização & administração , Administração de Materiais no Hospital/métodos , Engenharia Biomédica/tendências , Previsões , Inventários Hospitalares/organização & administração , Redes Locais , Administração de Materiais no Hospital/tendências , Microcomputadores , Minicomputadores , Philadelphia , Controle de Qualidade , SoftwareRESUMO
1. A portable, head-mounted device was developed for administration of light therapy. A randomized crossover protocol was used to test the therapeutic efficacy of this device, compared to a standard light box, for treatment of winter depression. 2. Depressive symptoms were significantly reduced by both the head-mounted device and the light box. 3. Therapeutic efficacy of the two devices was not significantly different. 4. The head-mounted device was rated by patients as significantly more convenient than the conventional light box; this may be important in improving patient compliance.
Assuntos
Transtorno Depressivo/terapia , Fototerapia/instrumentação , Adulto , Transtorno Depressivo/psicologia , Feminino , Humanos , Masculino , Escalas de Graduação Psiquiátrica , Estações do AnoRESUMO
Recent reports have emphasized the usefulness of programmed electrical stimulation of the heart for predicting the effectiveness of pharmacologic therapy of recurrent tachycardias and for determining the basis of recurrent palpitations. We used programmed electrical stimulation of the atrium from the esophagus to study 12 children (ages 1 to 13 years) with either electrocardiographically documented tachycardia (seven patients) or recurrent palpitations (five patients). Atrial stimulation from the esophagus initiated and terminated tachycardia in all seven patients who had a previously documented tachycardia. In five of these patients tachycardia could not be initiated after therapy with quinidine sulfate, and no recurrences have been noted in 12 to 18 months of follow-up. In two patients tachycardia could be reinitiated despite therapeutic quinidine levels, and tachycardia has recurred despite quinidine therapy. Atrial stimulation from the esophagus initiated tachycardia in four of five patients with a history of palpitations. Electrocardiographic documentation of tachycardia was beneficial, because it provided a basis for determining whether therapy for tachycardia was indicated, and in some instances provided an opportunity for patient education to permit-self termination without medication.
Assuntos
Arritmias Cardíacas/diagnóstico , Estimulação Cardíaca Artificial , Esôfago , Taquicardia/diagnóstico , Adolescente , Arritmias Cardíacas/tratamento farmacológico , Flutter Atrial/diagnóstico , Flutter Atrial/tratamento farmacológico , Criança , Pré-Escolar , Eletrocardiografia , Feminino , Frequência Cardíaca , Humanos , Lactente , Masculino , Quinidina/uso terapêutico , Taquicardia/tratamento farmacológicoRESUMO
A 10-month-old infant with multiple muscular ventricular septal defects, congestive heart failure, Wolff-Parkinson-White syndrome, and supraventricular tachycardia is presented. The site of ventricular pre-excitation was predicted by analysis of ST-T wave isopotential body surface maps to be in the posterior free wall of the right ventricle. The site was confirmed by epicardial mapping of the ventricles during surgery. The pathyway was cryoblated and the ventricular defects were closed. The patient has been free of pre-excitation and supraventricular tachycardia for over two years since surgery.