[Cerebrovascular disease in childhood: a retrospective analysis of hospital admissions in a tertiary hospital in the community of Valencia in the last ten years]. / Enfermedad cerebrovascular en la infancia. Análisis retrospectivo de los ingresos hospitalarios en los últimos diez años en un hospital terciario de la Comunidad Valenciana.

INTRODUCTION: There has been increasing interest in stroke in children in the last few years. A literature review produced little information on risk factors and other clinical questions. The aim of this study is to describe the characteristics of stroke in children, mainly in order to identify the risk factors, clinical presentation and outcomes. PATIENTS AND METHODS: A retrospective study was conducted on patients admitted to the Hospital La Fe in Valencia between January 2000 to September 2010 with the diagnosis of ischaemic or haemorrhagic stroke. RESULTS: A total of 76 patients were identified, of whom 44.7% had an ischaemic stroke and 55.3% had a haemorrhagic one. The average age of presentation was 6.8 years; 8.4 years for haemorrhagic strokes and 4.7 years for ischaemic strokes. Headache was the most frequent symptom of presentation. The most frequent risk factor was vascular malformations in haemorrhagic cerebral stroke, and vascular and cardiac disorders in ischaemic stroke. A study of prothrombotic factors was conducted on 34 patients, which was positive in 64.7% of them. As regards outcome, 17% of the patients died; only 3 patients had a secondary epilepsy, and 31% and 60% of the haemorrhagic and ischaemic stokes, respectively, had a hemiparesis. CONCLUSIONS: In this study we identified the principal risk factors as well as, the age of presentation, symptomatology and outcome. We would like to emphasise that the age of presentation was earlier in ischaemic strokes than in haemorrhagic ones.

Hemorragia intracraneal intraútero por trombopenia neonatal aloinmune: a propósito de dos casos y revisión de la literatura / In utero intracranial hemorrhage caused by neonatal alloimmune thrombocytopenia (NAIT). Report of two cases and literature update

Introducción: La trombopenia neonatal aloinmune (TNAI) es la causa más frecuente de trombopenia grave, aislada y precoz en el recién nacido sano. Es el resultado de la aloinmunización materna frente a antígenos plaquetarios humanos (HPA) del feto. El mecanismo fisiopatológico todavía es poco conocido. El paso de anticuerpos se produce en etapas tempranas de la gestación con consecuencias graves, como la hemorragia intracraneal. Casos clínicos: Se presentan dos casos de hemorragia intracraneal intraútero secundarios a TNAI. El primero de ellos seinicia con una gran hemorragia intraparenquimatosa, y requiere una única transfusión de donante aleatorio para remontar la cifra de plaquetas. El segundo se presenta con una hemorragia intraventricular y se trata con transfusiones seriadas de plaquetasHPA-1a negativas e inmunoglobulina intravenosa. Discusión y conclusiones: La TNAI se presenta generalmente como una trombopenia aislada y grave en el recién nacido. Eldiagnóstico es de exclusión y se confirma mediante la detección de anticuerpos antiplaquetarios en la madre. Dada la gravedad de las consecuencias, ante la sospecha de TNAI, deben realizarse de inmediato transfusiones de plaquetas, preferentemente de las compatibles, para evitar hemorragias. El riesgo de recurrencia en futuras gestaciones es muy elevado, por lo que se debe establecer un protocolo de manejo de éstas. El reto de futuro es el establecimiento de un cribado antenatal, como ya se hace con la isoinmunización Rh (AU)

Introduction: The neonatal alloimmune thrombocytopenia (NAIT) is the commonest cause of early isolated severe thrombocytopenia in the healthy newborn. It’s the result of maternal alloimmunization against fetal platelet antigens. However, the pathophysiologic mechanism is not well known yet. Alloantibodies cross the placenta in early stages of pregnancy provoking serious complications in the newborn such as intracranial hemorrhage. Case report: We present two cases of in utero intracranial hemorrhage caused by TNAI. In one of them a large intraparenchymal hemorrhage (IPH) was the first clinical symptom, how everhe recovered platelet count with just one transfusion of an aleatory donor, not needing further treatment. The second one exhibited at first an intraventricular hemorrhage (IVH) and was treated with serial transfusions of HPA-1a negative platelets and intravenous immunoglobulin (IVIG).Discussion and conclusions: The NAIT appears commonly as an isolated and severe thrombocytopenia in the newborn period. The diagnosis is made after excluding other causes of neonatal thrombocytopenia, and is confirmed proving the presence of maternal antiplatelet alloantibodies. Due to the severity of its consequences, when confronted with the suspicion of TNAI, a platelet transfusion should to be performed immediately preferably with negative antigen platelets to avoid bleeding. Since there is a high risk of recurrence in following gestations the availability of an established protocol is recommended. The future challenge is the establishment of antenatal screening programs similar to that performed in Rh isoimmunization (AU)

[Severe acquired aplastic anemia: historical outcome of patients treated by allogeneic bone marrow transplantation from matched sibling donors. A study by the Spanish Group for Bone Marrow Transplantation in Children (GETMON)]. / Aplasia medular grave adquirida: evolución histórica de los resultados obtenidos con trasplante de progenitores hematopoyéticos de donante familiar. Estudio del Grupo Español para el Trasplante de Médula Osea en Niños (GETMON).

INTRODUCTION: Allogeneic haematopoietic stem-cell transplantation is the treatment of choice for acquired aplastic anaemia in children. Experience with this approach from Spanish Working Party for Bone Marrow Transplantation in Children in two sequential time periods (1982-1990 and 1991-2004) is reported. PATIENTS AND METHODS: Sixty two consecutive patients with a median age of 10 years were transplanted; 18 in the 1982-1990 period and 44 in the 1991-2004 period. Conditioning regimen consisted mainly of irradiation and cyclophosphamide in the first period (72 % of patients) and cyclophosphamide +/- anti-thymocyte globulin (62 %) in the second. Graft versus host disease prophylaxis consisted of cyclosporine in most patients (57/62). RESULTS: Fifty one patients are alive and disease-free at a median follow-up of 127 months. Five years probability of event-free survival is 82 %. The survival increased from 61 % to 91 % during the two time periods. Eleven patients died from graft failure or rejection (3), acute or chronic graft versus host disease and infection (4) or multi-organ failure (4). Univariate analysis identified two significant prognostic factors: interval diagnostic/transplant and time period of transplant (for both p = 0.03). CONCLUSIONS: This experience corroborates that allogeneic haematopoietic stem-cell transplantation is the best treatment for severe acquired aplastic anaemia, with a current disease-free survival of 90 % of patients.

[Molecular characterization of thalassemias in the Valencia community and its relationship with the hematological phenotype]. / Caracterización molecular de las talasemias en la Comunidad Valenciana y su relación con el fenotipo hematológico.

PURPOSE: The aim of the study is to present the first results of molecular characterization of thalassaemias in Valencian Community and their relationship with the haematological parameters. PATIENTS AND METHODS: The study includes 87 thalassemic patients: 30 alpha-thalassaemias, 40 beta-thalassaemias and 17 delta beta-thalassaemias. The molecular alterations were studied in white cell blood DNA, either following different PCR methods or by testing the digestion of the amplified PCR products with selective restriction enzymes. RESULTS: The molecular characterization of beta-thalassaemias was achieved in 94% of the subjects, being the transition C-->T in CD-39 the most frequent (44%) of the mutations studied. 94% of the delta beta-thalassaemias studied corresponded to the delta beta-Spanish type. All the alpha thalassaemias characterized (64%) corresponded to the -alpha 3.7 deletion. The reamining 36% were negative for the alpha 0 deletions --MED, --20.5, or the non deletional mutations Hph I and NocI. DISCUSSION: In the Valencian Community, like what has been described for the beta-thalassaemias in other Mediterranean regions of Spain (Barcelona, Granada and Mallorca), a high incidence in C-->T transition in CD-39 was observed, in contrast with central and south-western regions of Spain, where the G-->A IVS-I-1 is the most frequent mutation. Our study supports that the IVS-I-6 mutations is the one with lower repercussions on the haematological parameters. Our study confirms the Spanish type of delta beta-thalassaemia as the most frequent in the Valencian Community, and that the 3.7 kb alpha deletion is the most frequent mutation for the alpha-thalassaemia, although alpha thalassaemia is also the poorly characterized form of thalassaemia.