Women with Gaucher Disease.

Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche has been described, although it has not been related to fertility problems. Menorrhagia is relatively frequent, being related to the presence of thrombocytopenia, thrombocytopathies or coagulation disorders. On the other hand, pregnancy planning is an increasingly frequent concern. All patients should undergo genetic counseling, and it is important to monitor the appearance or worsening of organomegaly, bone and hematologic abnormalities to establish clinical and therapeutic recommendations. Management during the puerperium will depend on the evolution of gestation, and, during the lactation period, the potential appearance of bone complications should be assessed. An early onset of menopause, compared to the general population, has also been described, which may accelerate the development of osteopenia. Finally, although the usual screening protocols for neoplasms are currently being performed, it is recommended to watch for early signs of liver or renal neoplasms when examining the results of imaging tests performed during evaluations for this disease.

Enfermedad de Niemann-Pick tipo B: una causa rara de quistes pulmonares / Niemann-Pick Disease Type B: A Rare Cause of Lung Cysts

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¿Cuál es la rentabilidad diagnóstica del frotis de sangre periférica? / What is the diagnostic yield of the peripheral blood smear?

Fundamento y objetivo. A pesar de que el frotis de sangre periférica es una herramienta muy útil en el diagnóstico de diversas enfermedades, para que aporte beneficio es crucial que el encargado de examinarlo conozca datos clínicos del paciente y sepa qué tiene que buscar o descartar. El objetivo de nuestro trabajo fue evaluar el beneficio real que aporta el frotis y los factores que predicen su impacto en la práctica clínica. Pacientes y métodos. Se analizaron de forma prospectiva todos los frotis consecutivos (n = 618) solicitados en un mes por 6 hospitales de la comunidad de Madrid y revisados en nuestro laboratorio. En cada frotis se evaluó la información previa aportada por el médico peticionario y la serie hematológica alterada. Clasificamos cada frotis, según lo que aportó al clínico, en: a) sin información relevante; b) confirma diagnóstico ya conocido, y c) aporta información relevante para el diagnóstico o pronóstico. Resultados. No se obtuvo ninguna información relevante en 402 frotis (65,04%). En los frotis útiles se observó mayor proporción de sospechas diagnósticas previas (20%) en comparación con los no diagnósticos (5,1%) (p < 0,001) y menos peticiones con hemograma normal (3,8 vs 42,7%, p < 0,001). Conclusiones. En nuestra experiencia, 2 de cada 3 frotis solicitados no aportan ninguna información relevante. Conocer la sospecha diagnóstica y tener al menos una de las 3 series alteradas tiene impacto significativo en la rentabilidad del frotis(AU)

Background and objetive. Although examination of peripheral blood smear is a very helpful tool in the diagnosis of several pathologies, it is essential that the person who performs it knows the patient clinical data and what to look for in order to obtain the highest benefit. The aim of this study is to determine the proportion of useful blood smears in clinical practice and to identify possible predictive factors. Patients and methods. We prospectively analysed 618 consecutive peripheral blood smears performed in our laboratory, requested by 6 hospitals in Madrid. Clinical features provided by the physician and abnormalities in complete blood count (none / white cells / red cells / platelets / all of them) were evaluated in each case. According to the information obtained from them, blood smears were classified into: a) non-diagnostic; b) a previously-known diagnosis is confirmed, and c) new relevant information provided. Results. No useful information was obtained by 402 (65.04%) blood smears. A higher proportion of previous clinical suspicions was observed in helpful blood smears compared to non-diagnostic ones (20% vs 5.1%, P<.001), and also less for completely normal blood counts (3.8% vs 42.7%, P <.001). Conclusions. In our experience, two thirds of requested peripheral blood smears provide no useful information at all. Clinical suspicion and the presence of at least one abnormality in complete blood count showed a significant impact in blood smear yield(AU)