RESUMEN
OBJECTIVES: Early detection of Pseudomonas aeruginosa lung positivity is a key element in cystic fibrosis (CF) management. PCR has increased the accuracy of detection of many microorganisms. Clinical relevance of P. aeruginosa quantitative PCR (qPCR) in this context is unclear. Our aim was to determine P. aeruginosa qPCR sensitivity and specificity, and to assess the possible time saved by qPCR in comparison with standard practice (culture). METHODS: A multicentre cohort study was conducted over a 3-year period in 96 patients with CF without chronic P. aeruginosa colonization. Sputum samples were collected at each visit. Conventional culture and two-step qPCR (oprL qPCR and gyrB/ecfX qPCR) were performed for 707 samples. The positivity criteria were based on the qPCR results, defined in a previous study as follow: oprL qPCR positivity alone if bacterial density was <730 CFU/mL or oprL qPCR combined with gyrB/ecfX qPCR if bacterial density was ≥730 CFU/mL. RESULTS: During follow up, 36 of the 96 patients with CF were diagnosed on culture as colonized with P. aeruginosa. This two-step qPCR displayed a sensitivity of 94.3% (95% CI 79.7%-98.6%), and a specificity of 86.3% (95% CI 83.4%-88.7%). It enabled P. aeruginosa acquisition to be diagnosed earlier in 20 patients, providing a median detection time gain of 8 months (interquartile range 3.7-17.6) for them. CONCLUSIONS: Implementing oprL and gyrB/ecfX qPCR in the management of patients with CF allowed earlier detection of first P. aeruginosa lung positivity than culture alone.
Asunto(s)
Fibrosis Quística/complicaciones , Diagnóstico Precoz , Técnicas de Diagnóstico Molecular/métodos , Infecciones por Pseudomonas/diagnóstico , Pseudomonas aeruginosa/aislamiento & purificación , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Adolescente , Técnicas Bacteriológicas/métodos , Niño , Femenino , Humanos , Masculino , Estudios Prospectivos , Sensibilidad y Especificidad , Esputo/microbiología , Factores de TiempoAsunto(s)
Hipertensión Pulmonar , Inmunosupresores/administración & dosificación , Leucemia Linfocítica Granular Grande/complicaciones , Metotrexato/administración & dosificación , Hipertensión Pulmonar Primaria Familiar , Femenino , Humanos , Hipertensión Pulmonar/tratamiento farmacológico , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/inmunología , Leucemia Linfocítica Granular Grande/inmunología , Persona de Mediana Edad , Resultado del TratamientoAsunto(s)
Infecciones Comunitarias Adquiridas/transmisión , Infección Hospitalaria/transmisión , Hepacivirus/aislamiento & purificación , Hepatitis C/transmisión , Enfermedad Aguda , Adulto , Infecciones Comunitarias Adquiridas/virología , Infección Hospitalaria/virología , Femenino , Genotipo , Personal de Salud , Hepacivirus/clasificación , Hepacivirus/genética , Hepacivirus/inmunología , Hepatitis C/diagnóstico , Hepatitis C/inmunología , Hepatitis C/virología , Anticuerpos contra la Hepatitis C/sangre , Servicios de Atención de Salud a Domicilio , Humanos , Transmisión de Enfermedad Infecciosa de Profesional a Paciente , Filogenia , Análisis de Secuencia de ADNRESUMEN
BACKGROUND: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability associated with certain mutations makes genetic counselling difficult, notably for R117H, whose disease phenotype varies from asymptomatic to classical CF. The high frequency of R117H observed in CF newborn screening has also introduced diagnostic dilemmas. The aim of this study was to evaluate the disease penetrance for R117H in order to improve clinical practice. METHODS: The phenotypes in all individuals identified in France as compound heterozygous for R117H and F508del, the most frequent CF mutation, were described. The allelic prevalences of R117H (p(R117H)), on either intron 8 T5 or T7 background, and F508del (p(F508del)) were determined in the French population, to permit an evaluation of the penetrance of CF for the [R117H]+[F508del] genotype. RESULTS: Clinical details were documented for 184 [R117H]+[F508del] individuals, including 72 newborns. The disease phenotype was predominantly mild; one child had classical CF, and three adults' severe pulmonary symptoms. In 5245 healthy adults, p(F508del) was 1.06%, p(R117H;T7) 0.27% and p(R117H;T5)<0.01%. The theoretical number of [R117H;T7]+[F508del] individuals in the French population was estimated at 3650, whereas only 112 were known with CF related symptoms (3.1%). The penetrance of classical CF for [R117H;T7]+[F508del] was estimated at 0.03% and that of severe CF in adulthood at 0.06%. CONCLUSIONS: These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes. The real impact of so-called disease mutations should be assessed before including them in newborn or preconceptional carrier screening programmes.
Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Asesoramiento Genético , Heterocigoto , Tamizaje Neonatal , Penetrancia , Estudios Transversales , Fibrosis Quística/diagnóstico , Fibrosis Quística/epidemiología , Humanos , Recién Nacido , Estimación de Kaplan-Meier , Mutación , FenotipoRESUMEN
Systemic sclerosis-related pulmonary arterial hypertension (PAH) is a severe disease affecting about 1000 patients in France. In 2008, all scleroderma patients are screened for PAH by a yearly cardiac Doppler ultrasonography. The pathogenesis of systemic sclerosis-related PAH is poorly known but it seems that besides common arteriolar remodeling (media hypertrophy, intimal thickening, endothelial proliferation), venular lesions suggesting obstructive venous disease and inflammatory lesions may be also be involved. Prostacyclin and analogues, phosphodiesterase-5 inhibitors (sildenafil) and endothelin-1 receptor antagonists are proposed as specific treatments for systemic sclerosis-related PAH. Unlike bosentan, which is non-selective, inhibiting both ETA and ETB receptors, sodium sitaxentan is highly selective for ETA receptors; this could favor pulmonary vasodilation.
Asunto(s)
Hipertensión Pulmonar/etiología , Altitud , Antihipertensivos/uso terapéutico , Bosentán , Ecocardiografía , Antagonistas de los Receptores de Endotelina , Endotelina-1 , Inhibidores Enzimáticos/uso terapéutico , Francia/epidemiología , Humanos , Hipertensión Pulmonar/tratamiento farmacológico , Hipertensión Pulmonar/fisiopatología , Hipoxia/etiología , Hipoxia/terapia , Oxígeno/uso terapéutico , Inhibidores de Fosfodiesterasa 5 , Pronóstico , Esclerodermia Sistémica/complicaciones , Sulfonamidas/uso terapéuticoRESUMEN
Bipulmonary and cardiopulmonary transplantations are among the most difficult to perform, with a 10-year survival rate estimated at 33%. This low rate can be attributed to thoracic complications that can be classified into three distinct groups: 1) early complications, occurring in the first 30 days after transplantation (hemothorax, diaphragmatic paralysis, reperfusion edema, hydric overloading, acute rejection); 2) late complications that occur beyond the first month (bronchiolitis obliterans syndrome, bronchic stenosis, sirolimus-induced lung disorders, initial disease recurrence); and 3) infections classed separately because of their high morbidity and mortality (thoracic wall abscess, bacterial and viral pneumonia, CMV, pneumocystosis, Aspergillus necrotizing bronchitis). Imaging is essential in screening and diagnosing these complications as part of the clinician's monitoring throughout the rest of the transplant recipient's life. In diagnosis, combined with clinical and biological data, imaging has its place in delaying the onset of these diseases.
Asunto(s)
Diagnóstico por Imagen , Rechazo de Injerto/diagnóstico , Trasplante de Corazón-Pulmón , Enfermedades Pulmonares/diagnóstico , Trasplante de Pulmón , Complicaciones Posoperatorias/diagnóstico , Rechazo de Injerto/etiología , Humanos , Enfermedades Pulmonares/etiología , Sensibilidad y EspecificidadRESUMEN
OBJECTIVE: To compare the preservative effects of Celsior solution and modified blood Wallwork solution in lung transplantation. METHODS: From 1989 to 2000, 44 lung transplantations for cystic fibrosis were performed: 26 grafts were preserved with modified blood Wallwork solution and 18 with Celsior solution. RESULTS: Preoperative status of the 2 groups was similar. The ratio of arterial oxygen to fraction of inspired oxygen and the pulmonary vascular resistance on the first postoperative day did not differ significantly between the 2 groups. Early death was 4% (SD, 20%) in the Wallwork group versus 11% (SD, 32%) in the Celsior group (not significant). No death was related to graft failure. The forced expiratory volume in 1 second during the first month after transplantation was 63% (SD, 19%) in the Wallwork group versus 63% (SD, 16%) in the Celsior group (not significant). CONCLUSION: Because the solution does not need to be prepared on site and does not require blood from the donor, Celsior seems better than Wallwork solution for preserving lung grafts.
Asunto(s)
Albúminas/farmacología , Cloruros/farmacología , Fibrosis Quística/cirugía , Disacáridos/farmacología , Electrólitos/farmacología , Glutamatos/farmacología , Glutatión/farmacología , Histidina/farmacología , Trasplante de Pulmón , Pulmón/efectos de los fármacos , Pulmón/cirugía , Manitol/farmacología , Soluciones Preservantes de Órganos/farmacología , Fosfoproteínas Fosfatasas/farmacología , Propionatos/farmacología , Proteínas Tirosina Fosfatasas/farmacología , Femenino , Humanos , Masculino , Estudios RetrospectivosRESUMEN
Immunodepressed patients, particularly those with neutropenia or bone marrow or organ grafts, are at risk of developing nosocomial invasive pulmonary aspergilosis. The favoring factors, early diagnostic criteria and curative treatment protocols are well known. Prognosis remains however quite severe with a death rate above 50%. Preventive measures are required for the treatment of these high-risk patients and epidemiology surveillance is needed in case of aspergillosis acquired in the hospital.
Asunto(s)
Aspergilosis/diagnóstico , Aspergilosis/terapia , Infección Hospitalaria/diagnóstico , Infección Hospitalaria/terapia , Control de Infecciones/métodos , Enfermedades Pulmonares Fúngicas/diagnóstico , Enfermedades Pulmonares Fúngicas/terapia , Antifúngicos/uso terapéutico , Aspergilosis/epidemiología , Aspergilosis/etiología , Infección Hospitalaria/epidemiología , Infección Hospitalaria/etiología , Humanos , Huésped Inmunocomprometido/inmunología , Enfermedades Pulmonares Fúngicas/epidemiología , Enfermedades Pulmonares Fúngicas/etiología , Neutropenia/complicaciones , Pronóstico , Factores de RiesgoRESUMEN
Lung transplantation (LT) became during the ten past years an important therapeutic option for cystic fibrosis adult patients with end-stage chronic lung disease. LT clearly improves both survival and long term quality of life. A rigorous selection of the candidates is of paramount importance to improve the results of LT because of the lack of shortage of organs. This selection requires a multidisciplinary assessment to refuse patients with absolute exclusion criteria or general medical conditions that impact negatively on short- and long-term outcome. One of the major difficulties is to determine the best time to refer patients to transplantation, arguing the comparison between the predicted survival time of the candidate, under optimal medical therapy, with or without LT. The selection period is also an active process to prepare the patients to the postoperative follow-up and includes a nutritional and rehabilitation program with an educational and psychological preparation. The aim of the present work is to gather the worldwide principles of the selection of the CF patients for LT, commonly used by the LT centers. These recommendations should provide the CF center practitioners with the main elements to prepare their patients to an LT project before a relentless end-stage clinical condition.
Asunto(s)
Fibrosis Quística/cirugía , Trasplante de Pulmón , Adolescente , Adulto , Factores de Edad , Niño , Preescolar , Contraindicaciones , Humanos , Trasplante de Pulmón/psicología , Persona de Mediana Edad , Selección de Paciente , Cuidados Preoperatorios , Calidad de VidaAsunto(s)
Trasplante de Corazón-Pulmón , Trasplante de Pulmón , Selección de Paciente , Adulto , Factores de Edad , Algoritmos , Bronquiectasia/cirugía , Contraindicaciones , Fibrosis Quística/cirugía , Árboles de Decisión , Francia/epidemiología , Trasplante de Corazón-Pulmón/métodos , Trasplante de Corazón-Pulmón/mortalidad , Trasplante de Corazón-Pulmón/estadística & datos numéricos , Trasplante de Corazón-Pulmón/tendencias , Humanos , Hipertensión Pulmonar/cirugía , Enfermedades Pulmonares Obstructivas/cirugía , Trasplante de Pulmón/métodos , Trasplante de Pulmón/mortalidad , Trasplante de Pulmón/estadística & datos numéricos , Trasplante de Pulmón/tendencias , Pronóstico , Fibrosis Pulmonar/cirugía , Análisis de SupervivenciaRESUMEN
THE ONLY SOLUTION: Despite significant progress in the management of patients with multiple sclerosis, lung transplantation remains the only chance for survival in those with severe respiratory failure. WAITING LIST INCLUSION CRITERIA: Lung function tests, the patientís general states and psychological and familial factors all contribute to determining inscription on lung transplantation waiting lists. TECHNICAL ASPECTS: Heart-lung, monoblock two-lung and sequential two-lung transplantations are detailed according to the respective advantages and disadvantages. RESULTS: Hospital mortality is about 5% and 5-year survival about 50%. However, only 10% of the patients on waiting lists due to the lack of organs survive for 2 years. PERSPECTIVES: The number of grafts must be increased by developing lobular grafts from live donors using the bipartition technique. Nevertheless, xenografts remain the most promising perspective for increasing the number of patients who can benefit from this therapy.
Asunto(s)
Fibrosis Quística/cirugía , Trasplante de Corazón-Pulmón/métodos , Trasplante de Pulmón/métodos , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Resultado del TratamientoRESUMEN
The authors report three sisters with bilateral isolated apical pleural fibrosis of unknown origin, which did not respond to empirical antituberculosis therapy and oral corticosteroids. The disease evolved in an unrelenting fashion producing pleural fibrosis at the lung bases and leading to the death of two sisters and to lung transplantation in the other one. There was no history of other familial disease or consanguinity. The particular features of these cases and the differences from other reports of apparently cryptogenic pleural fibrosis are outlined.
Asunto(s)
Enfermedades Pleurales/congénito , Adulto , Biopsia , Broncoscopía , Diagnóstico Diferencial , Resultado Fatal , Femenino , Fibrosis/complicaciones , Fibrosis/congénito , Fibrosis/diagnóstico , Humanos , Trasplante de Pulmón , Núcleo Familiar , Enfermedades Pleurales/complicaciones , Enfermedades Pleurales/diagnóstico , Radiografía Torácica , Insuficiencia Respiratoria/etiología , Insuficiencia Respiratoria/cirugía , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Heart lung transplantation for++ cystic fibrosis is now performed in patients with severe lung disease but the experience is still scarce with the exception of some specialized centers. PATIENTS AND METHODS: Twenty-one patients underwent heart-lung transplantation between September 1989 and November 1994 in our institution, with a high standard of reliability in tracheal anastomosis and with a low incidence of hospital mortality (5%). RESULTS: The actuarial patient survival is 90.2% (95% confidence interval, 70 to 97%) at 1 year and 75.7% (95% confidence interval, 51 to 90%) at 3 and 4 years. The mean forced expiratory volume in 1 second (FEV1) increases from 20.1% predicted preoperatively to 76.1%. CONCLUSION: Despite the presence of airway pathogens, these results confirm that heart-lung transplantation for cystic fibrosis leads to a pronounced improvement in lung function and good rehabilitation after surgery. The two main obstacles are the shortage of donor organs and the possibility of late deterioration in lung function with a progressive airflow obstruction.
Asunto(s)
Fibrosis Quística/cirugía , Trasplante de Corazón-Pulmón/métodos , Adolescente , Adulto , Niño , Femenino , Volumen Espiratorio Forzado , Trasplante de Corazón-Pulmón/estadística & datos numéricos , Humanos , Masculino , Morbilidad , Periodo PosoperatorioAsunto(s)
Ciclosporina/farmacocinética , Fibrosis Quística/cirugía , Trasplante de Corazón-Pulmón/inmunología , Inmunosupresores/uso terapéutico , Trasplante de Riñón/inmunología , Trasplante de Hígado/inmunología , Trasplante de Pulmón/inmunología , Administración Oral , Adolescente , Adulto , Azatioprina/uso terapéutico , Disponibilidad Biológica , Niño , Ciclosporina/administración & dosificación , Ciclosporina/sangre , Fibrosis Quística/metabolismo , Quimioterapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Masculino , Tasa de Depuración Metabólica , Esteroides/uso terapéutico , Factores de TiempoRESUMEN
The thyroid gland involvement in sarcoidosis is rare but not exceptional. Usually there is little or no clinical expression although hyperthyroidism may be present. The granulomatous infiltration of the thyroid gland cannot be responsible for all the abnormalities observed. In certain cases, there is undoubtedly an autoimmune disease. We report a case of concomitant discovery of sarcoidosis and Hashimoto's thyroiditis. Despite their relative frequency, there could be a relationship between these two pathologies, especially in light of their similar pathophysiology.
Asunto(s)
Sarcoidosis/complicaciones , Tiroiditis Autoinmune/etiología , Femenino , Humanos , Persona de Mediana Edad , Sarcoidosis/fisiopatología , Tiroiditis Autoinmune/fisiopatologíaRESUMEN
As early as 1987, several teams in France began lung transplantation for patients with cystic fibrosis. Most of these teams propose transplantation when the life expectancy is under 2 years. The major functional criteria are VEMS < 30%, PaC02 > 50 mmHg and PaO2 < 55 mmHg. This contribution focuses on psychologic, nutritional and infectious aspects required in preparing the patients for transplantation and on graft selection. Surgical techniques and patient care after transplantation are also reported. The overall probability of survival after transplantation for cystic fibrosis is 48, 35 and 29% at 1, 2 and 3 years respectively with wide intercentre variation. The lack of sufficient graft supply and the risk of post-transplantation degradation remain the two principal problems for transplantation in cystic fibrosis.