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INTRODUCTION: Different clinico-biological parameters are used to estimate the amount of oxygen available for the organism. Oxygen saturation measured with pulse oxymetry (SpO2), oxygen saturation of arterial blood (SaO2) and oxygen partial pressure of the arterial blood (PaO2) are the most commonly used. CASE REPORT: We report the case of a patient admitted for investigation of respiratory failure in the context of chronic dyspnea of effort. SpO2 and SaO2 were decreased, though the PaO2 was normal. This mismatch between oxygen saturation and PaO2 led to the diagnosis of hemoglobinopathy (Bassett hemoglobin). CONCLUSION: The diagnosis of hemoglobinopathy should be considered in cases of oxygen desaturation with normal respiratory and cardiac investigations. There are no reasons to prescribe long-term oxygen to these patients.
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Análisis de los Gases de la Sangre/métodos , Hemoglobinopatías/diagnóstico , Oximetría , Oxígeno/sangre , Insuficiencia Respiratoria/diagnóstico , Adulto , Análisis de los Gases de la Sangre/normas , Diagnóstico Diferencial , Femenino , Hemoglobinopatías/sangre , Hemoglobinopatías/complicaciones , Humanos , Oxígeno/análisis , Insuficiencia Respiratoria/sangre , Insuficiencia Respiratoria/etiologíaAsunto(s)
Antígenos CD/metabolismo , Linfoma de Células B de la Zona Marginal/diagnóstico , Linfoma de Células B de la Zona Marginal/metabolismo , Células Neoplásicas Circulantes/metabolismo , Bazo/metabolismo , Bazo/patología , Antígenos CD/genética , Antígenos de Superficie/genética , Antígenos de Superficie/metabolismo , Humanos , Inmunofenotipificación , Linfoma de Células B de la Zona Marginal/genética , Trastornos Linfoproliferativos/metabolismoAsunto(s)
Cromosomas Humanos Par 2 , Cromosomas Humanos Par 8 , Chaperonas Moleculares/genética , Enfermedades Mielodisplásicas-Mieloproliferativas/genética , Proteínas de Complejo Poro Nuclear/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Translocación Genética , Femenino , Humanos , Persona de Mediana EdadRESUMEN
A cytological, immunophenotypical and cytogenetical study of 136 chronic B-cell proliferations (93 CLL, 43 B-cell lymphomas) was led in order to precise diagnosis and to characterize and appreciate chromosomal rearrangements. In this series, mainly selected on blood lymphocytosis criteria, B-CLL were twice more frequent than small B-cell lymphomas. Probes used revealed cryptic abnormalities, which remained unknown by conventional cytogenetics (CC). The frequency of clonal abnormalities (CC and FISH) was 74.8% for this series, with 74.4% for lymphomas and 75.3% for CLL, mainly of Binet stage A (69 A, 13 B, 1 C, 10 unspecified). Proportion was 88.4% in A stages and 84.6% in B stages. In CLL, 13q14 cryptic deletions and translocations were widely majority, 14q32 translocations and trisomy 12 being predominant in lymphoma series. Interphase FISH study of non-clonal metaphasic abnormalities with locus-specific probes often revealed unrecognised clones.
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Aberraciones Cromosómicas , Cromosomas Humanos/genética , Leucemia Linfocítica Crónica de Células B/genética , Linfoma de Células B/genética , Aneuploidia , Cromosomas Humanos/ultraestructura , Cromosomas Humanos Par 13/genética , Cromosomas Humanos Par 13/ultraestructura , Células Clonales/patología , Estudios de Cohortes , Femenino , Humanos , Inmunofenotipificación , Hibridación Fluorescente in Situ , Cariotipificación , Leucemia Linfocítica Crónica de Células B/patología , Linfoma de Células B/patología , Trastornos Linfoproliferativos/genética , Masculino , Estadificación de Neoplasias , Eliminación de SecuenciaRESUMEN
The association of sarcoidosis with hematological malignancies is a well-known phenomenon. To our knowledge, we report the first case involving sarcoidosis and acute promyelocytic leukemia (APL) t(15;17)(q22;q12-21). The major interest lies in the chronology of the two diseases: the APL demonstrated an unusual smoldering evolution, suggesting that pre-existing sarcoidosis may have a non-fortuitous immunological impact on leukemic clone proliferation.
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OBJECTIVE: The authors had for aim, to describe clinical and biological features of 11 cases of leptospirosis observed in Lorraine between 1996 and 2002, and to assess the interest of diagnostic methods. PATIENTS AND METHODS: A retrospective study was performed. The inclusion criteria was positive serological test for Leptospira. RESULTS: The contamination was mainly linked to water sports, during the summer holidays. The main symptom was fever, associated with moderate increase of aminotransferase serum level. Leptospira icterohaemorragiae was the most frequently identified serogroup. One 17-year-old male patient died after infection during water sports practice. CONCLUSION: Preventive measures should be considered for people exposed to Leptospira when practicing water sports.
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Leptospirosis/diagnóstico , Leptospirosis/transmisión , Adolescente , Adulto , Anciano , Humanos , Leptospira/aislamiento & purificación , Leptospirosis/mortalidad , Persona de Mediana Edad , Estudios Retrospectivos , Deportes , Análisis de Supervivencia , Microbiología del AguaRESUMEN
Although the French-American-British (FAB) morphologic classification of myeloid malignancies has been accepted for many years, the important advances in cytogenetic, immunophenotype and genetic fields needed to be integrated in an updated approach using all the available informations. Thus, the World Health Organization (WHO) Classification of haematopoietic malignancies not only incorporates morphology, immunophenotype, cytogenetic and molecular features, but also ensures to be clinically useful. This collaborative project has begun in 1995 and has been published in 2001. The proposed WHO classification is less a disruption with regard to the FAB classification than an updated revision where morphology is always important. These review emphasises the modifications proposed in the new WHO classification concerning the myeloid disorders.