RESUMO
In order to identify unknown mutations, the FAMA method was used to rapidly screen the fibrinogen chain genes in individuals with dysfibrinogenemias. Chemical cleavage at mismatches on heteroduplexes DNA end-labeled with strand-specific fluorescent dyes reliably detects sequence changes in DNA fragments of up to 1.5 kb and locates them precisely. This method was successfully used for the detection of three new dysfibrinogenemias: Poissy III, Tahiti (heterozygous Aalpha Arg16His) and Saint-Germain I (heterozygous AalphaGly12Val). The mutations were confirmed by dideoxy sequencing.
Assuntos
Transtornos de Proteínas de Coagulação/genética , Fibrinogênios Anormais/análise , Adulto , Substituição de Aminoácidos , Pré-Escolar , Transtornos de Proteínas de Coagulação/diagnóstico , Análise Mutacional de DNA/métodos , Feminino , Fibrinogênios Anormais/química , Fibrinogênios Anormais/genética , Heterozigoto , Humanos , Mutação , Polimorfismo Conformacional de Fita Simples , Análise de Sequência de DNARESUMO
The aim of this study was to assess the influence of preservation solution type and extra- or intracellular composition on the occurrence of early graft dysfunction after clinical lung transplantation. For 170 patients who underwent a single (n = 124) or bilateral (n = 46) lung transplantation in two centers in Paris between 1988 and 1999, the preservation technique applied to the donor lung was single-flush perfusion of the pulmonary artery with one of several solutions of intracellular (Euro-Collins, n = 61; University of Wisconsin, n = 24) or extracellular composition (Cambridge, n = 64; Celsior, n = 21). The early postoperative outcome of these patients was reviewed. Reimplantation edema occurred in 48% of all patients, and the overall 1-mo survival rate was 84%. No significant difference in the incidence of edema, duration of mechanical ventilation, and 1-mo survival rate was observed between the four groups or between intra- and extracellular groups. After adjustment for graft ischemic time by means of multivariate analysis, the use of extracellular preservation fluid was associated with a lower incidence of reimplantation edema without effect on 1-mo mortality. Graft ischemic time was associated with both edema occurrence and 1-mo survival rate (p = 0.02 and p = 0.01, respectively). We conclude that extracellular-type solutions are associated with better lung preservation than intracellular-type solutions in clinical transplantation.
Assuntos
Rejeição de Enxerto/epidemiologia , Transplante de Pulmão , Soluções para Preservação de Órgãos , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de TempoRESUMO
We report three cases of volume reduction surgery in three single lung transplant recipients with emphysema. Each patient had a late decline in lung function with hyper-inflation of the native lung. Lung function was improved post-operatively for two patients. The relief of thoracic overdistension may be considered in single lung transplant recipients who exhibit clinical significant functional deterioration.
Assuntos
Enfisema/terapia , Transplante de Pulmão , Pneumonectomia , Adulto , Humanos , Pessoa de Meia-Idade , Testes de Função Respiratória , Resultado do TratamentoRESUMO
OBJECTIVES: To assess the efficacy of the Simplified Acute Physiology Score (SAPS II) in intermediate care units. A number of patients hospitalized in the intensive care unit (ICU) could be hospitalized in alternative structures, intermediate care units, which are equipped to handle their monitoring needs and able to provide adequate treatment at a lower cost. Characterization of the patients relies on the assessment of their severity of illness by severity scores. The efficiency of severity scores has been established in ICU patients, but not in the setting of intermediate care units. DESIGN: Prospective study. SETTING: Intermediate care unit of a multidisciplinary hospital. PATIENTS: Four hundred thirty-three patients admitted to the intermediate care unit. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Of 561 consecutive patients admitted to the intermediate care unit during a 12-mo period, 433 patients could be included in the analysis. Patients were admitted from the emergency ward (60.9%). Of the study patients, 60.9% were admitted from the emergency ward for mostly (96%) medical reasons. Average length of stay was 3.1 +/- 2.3 (SD) days. Death rate in the intermediate care unit was 2.7% (n = 11). Average SAPS II was 22.3 +/- 12.0 (range 6 to 73). Hospital death rate was 8.1%, whereas the expected mortality rate derived from SAPS II was 8.7%. To assess the performance of the system, a formal goodness-of-fit test was performed to evaluate calibration. Calibration was accurate using the C coefficient of Hosmer-Lemeshow statistics (C = 2.4; p> 0.5). The discriminant power of SAPS II, measured by the area under the receiver operating characteristic curve was excellent (0.85 +/- 0.04). CONCLUSIONS: The SAPS II assessment of severity of illness in patients admitted to an intermediate care unit is reliable. These results will need to be confirmed, using different patient samplings from intermediate care units.
Assuntos
APACHE , Instituições para Cuidados Intermediários/estatística & dados numéricos , Adolescente , Adulto , Estado Terminal/mortalidade , Feminino , Seguimentos , Mortalidade Hospitalar , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Garantia da Qualidade dos Cuidados de Saúde , Curva ROC , Índice de Gravidade de DoençaAssuntos
Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Flebite/genética , Reação em Cadeia da Polimerase/métodos , Trombose/genética , DNA/análise , Eletroforese em Gel de Ágar , Temperatura Alta , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2) , Reprodutibilidade dos TestesRESUMO
In spite of improvements in single or double lung transplantation (LT) technique, complications after LT are not uncommon; the most frequent ale anastomotic complications, infections and rejection (acute or chronic). Early detection of complications of LT allows the optimal therapeutic option to be taken, yielding decreased morbidity and mortality. In some cases, CT plays a key role in early detection of several complications of LT that may not be depicted with other diagnostic modalities, so that knowledge of their CT features is important. In this pictorial review, the authors describe the spectrum of CT features of the complications of LT (including reimplantation response, mechanical problems, acute and chronic rejection, infection, lymphoproliferative disorders, recurrence of the initial disease and complications involving the pleura and the anastomotic sites). In addition, the authors analyze the value of CT compared to that of the other available modalities for the detection of complications of LT.
Assuntos
Transplante de Pulmão/efeitos adversos , Tomografia Computadorizada por Raios X , Adulto , Anastomose Cirúrgica , Biópsia por Agulha/efeitos adversos , Brônquios/cirurgia , Feminino , Rejeição de Enxerto/diagnóstico por imagem , Humanos , Pulmão/diagnóstico por imagem , Transtornos Linfoproliferativos/diagnóstico por imagem , Transtornos Linfoproliferativos/etiologia , Masculino , Pessoa de Meia-Idade , Infecções Oportunistas/diagnóstico por imagem , Pneumotórax/diagnóstico por imagem , Pneumotórax/etiologia , Embolia Pulmonar/diagnóstico por imagem , Embolia Pulmonar/etiologiaRESUMO
Four spuriously lowered WBC counts due to in vitro leukoagglutination were reported from an automated cell counter (Coulter STKS). Leukocyte aggregates (3 to 50 cells), detected in the peripheral blood smears, included different cell types, normal (neutrophils, eosinophils, monocytes, lymphocytes) or abnormal (lymphoma cells). The phenomenon was associated with either a spurious leukoneutropenia or an underestimation of hyperleucocytosis. Leukoagglutination was extensively investigated in 3 cases : as shown in several reports, leukoagglutination may occur with various features, especially due to temperature and anticoagulant dependence. Our four cases reflected this variability. Furthermore, one case was found both temperature-dependent and anticoagulant-independent, a pattern not yet described in the literature. A common STKS graphic pattern was found in our 4 cases, suggesting that hematology analyzers such as Coulter STKS may be useful to detect leukoagglutination. In conclusion, each leukoneutropenia and/or each suggestive graphic pattern must be controlled by means of a blood smear examination in order to rule out the possibility of in vitro leukoagglutination.
Assuntos
Testes de Aglutinação/métodos , Contagem de Leucócitos/instrumentação , Leucopenia/diagnóstico , Neutropenia/diagnóstico , Idoso , Artefatos , Erros de Diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
We report the set-up of a denaturant gradient gel electrophoresis (DGGE) assay to screen for mutations in the whole coding sequence of the p53 gene. These DGGE experimental conditions were applied to the analysis of the p53 gene in acute leukemias. Forty adults with acute myelogenous leukemia (AML) and 21 with acute lymphoid leukemia (ALL) were investigated. Eleven of the AML patients were investigated at the time of the initial diagnosis and at relapse. In contrast with most reports based on amplified fragments analyzed by single-strand conformation electrophoresis and focusing on exons 5 to 8, we analyzed the whole coding sequence of the gene. Two of the 40 AML patients displayed a point mutation in exon 7; it was either an A to G substitution that converted Tyr-234 to Cys, or a G to A change that converted Arg-248 to Gln. The screening procedure led to the discovery of several intronic and exonic polymorphisms. These results confirm the low incidence of p53 mutations in acute leukemias and suggest a limited role of the p53 protein in leukemogenesis. The computerized modeling and electrophoresis parameters presented here provide a powerful tool for the exhaustive characterization of p53 mutants in all kinds of malignancies.
Assuntos
Genes p53 , Leucemia/genética , Mutação Puntual , Doença Aguda , Sequência de Bases , Análise Mutacional de DNA , Eletroforese em Gel de Poliacrilamida , Éxons , Humanos , Leucemia Mieloide Aguda/genética , Dados de Sequência Molecular , Desnaturação de Ácido Nucleico , Reação em Cadeia da Polimerase , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , SoftwareRESUMO
The morphological profiles of red blood cells (RBC) and platelets (Plt) derived from the distribution analysis given by the Coulter STKS were evaluated in two groups of patients suffering from non hematological (n = 293) and hematological (n = 257) conditions. The RBC and Plt flags were studied in terms of sensitivity of the morphological analysis and specificity and significance of each flag. When all RBC and Plt flags were considered, the percentages of false negatives and false positives in our subjects were found to be 4.7% and 13.4% respectively, with a global efficiency of 81.8%. The sensitivity of the alarm system was higher than 90% for all types of abnormality, except microcytosis (81%) and Howell-Jolly bodies (57% over a limited number of 7 cases). The specificity of the STKS response was found to be low except for anisocytosis (88.5%) and macrocytosis (86.1%). It was shown that the flags microcytosis and/or hypochromia and macrocytosis were poorly significant when they appeared in isolation (false positive rates of 86.6% and 84.2% respectively). Thus, these alarms could be eliminated from the review criteria. When considering only the flags anisocytosis, NRBCs, micro RBCs/RBC fragments, dimorphic RBC pop, PLT clumps and giant Plt, the percentage of false positives was 8.1%. However, it must be kept in mind that suspect leucocyte flags remained review criteria, resulting in a final false negative rate of 2.5% for RBC and Plt morphological abnormalities.
Assuntos
Plaquetas/patologia , Eritrócitos/patologia , Testes Hematológicos/instrumentação , Estudos de Avaliação como Assunto , Humanos , Valor Preditivo dos Testes , Sensibilidade e EspecificidadeRESUMO
To control hyperphosphataemia without hyperaluminaemia, A1(OH)3, which was given in addition to high doses of oral calcium, was replaced by Mg(OH)2 for 6 months in 20 haemodialysed patients and for 20 months in 12. The treatment during the control period was 110 +/- 91 mmol/day of oral calcium element given as CaCO3 and/or Calcium Sorbisterit and 1.05 +/- 1.47 g/day of A1(OH)3. Haemodialysis treatment was 4 h, thrice weekly. To prevent hypermagnesaemia, dialysate magnesium was decreased from 0.75 mmol/l to 0.375 mmol/l. After a control period of 3 months, Mg(OH)2 was given at a mean dose of 2.6 +/- 2 g/day and oral calcium supplements were decreased to 76 mmol/day. Two subsequent bone histomorphometry studies were performed at 8 month intervals in four patients and at 20 month intervals in seven patients. The results show a good control of plasma calcium (mean +/- SD: 2.43 +/- 0.1 mumol/l); phosphate (1.76 +/- 0.4 to 1.66 +/- 0.3 mmol/l); aluminum (1.3 +/- 0.1 mumol/l to 0.6 +/- 0.1 mumol/l); alkaline phosphatase (135 +/- 65 to 125 +/- 40 IU); and PTH fragments (PTH C terminal decreased from 260 +/- 214 to 185 +/- 182 pg/ml, PTH medium from 4185 +/- 5113 to 2270 +/- 4880 pg/ml). Plasma magnesium increased from 0.96 +/- 0.2 to 1.54 +/- 0.2 mmol/l. Bone histomorphometry shows no change in mineralisation, and a borderline decrease of resorption parameters. The main side-effects are (1) diarrhoea, which was well controlled by transient treatment with karaya gum, and (2) an increased need for potassium binders.(ABSTRACT TRUNCATED AT 250 WORDS)