Concomitant homozygosity for the prothrombin gene variant with mild deficiency of antithrombin III in a patient with multiple hepatic infarctions: a case report

<p>Abstract</p> <p>Introduction</p> <p>Hereditary causes of visceral thrombosis or thrombosis should be sought among young patients. We present a case of a young man presenting with multiple hepatic infarctions resulting in portal hypertension due to homozygosity of the prothrombin gene mutation not previously described in literature.</p> <p>Case presentation</p> <p>A 42-year-old Caucasian man with a previous history of idiopathic deep vein thrombosis 11 years earlier presented with vague abdominal pains and mildly abnormal liver function tests. An ultrasound and computed tomography scan showed evidence of hepatic infarction and portal hypertension (splenic varices). A thrombophilia screen confirmed a homozygous mutation for the prothrombin gene mutation, with mildly reduced levels of anti-thrombin III (AT III). Subsequent testing of his father and brother revealed heterozygosity for the same gene mutation.</p> <p>Conclusion</p> <p>Hepatic infarction is unusual due to the rich dual arterial and venous blood supply to the liver. In the absence of an arterial or haemodynamic insult causing hepatic infarction, a thrombophilia should be considered. To our knowledge, this is the first reported case of a hepatic infarction due to homozygosity of the prothrombin gene mutation. It is unclear whether homozygotes have a higher risk of thrombosis than heterozygotes. In someone presenting with a first thrombosis with this mutation, the case for life-long anticoagulation is unclear, but it may be necessary to prevent a second and more severe second thrombotic event, as occurred in this case.</p

Aprotinin versus desmopressin for patients undergoing operations with cardiopulmonary bypass A double-blind placebo-controlled study

Background. Aprotinin reduces blood loss in operations done with cardio-pulmonary bypass, whereas the use of desmopressin remains controversial. We compared aprotinin, desmopressin, and placebo in a double-blind, randomized trial to evaluate bleeding and transfusion requirements.Methods and results. One hundred forty-nine patients (48 received aprotinin, 50 desmopressin, 51 placebo) were included. Blood loss and transfusion requirements were recorded and levels of Factor VIII coagulant activity, von Willebrand's factor, thrombin-antithrombin complexes, and D-dimer were measured. Overall blood loss was 195 ± 146 ml/m2 in the aprotinin group, 400 ± 192 ml/m2 in the desmopressin group, and 489 ± 361 ml/m2 in the placebo group (95% confidence intervals: difference between desmopressin and aprotinin 98 to 312 ml/m2, p < 0.001; difference between placebo and aprotinin 190 to 398 ml/m2, p < 0.001). Twenty-six percent of patients treated with aprotinin, 66% of those treated with desmopressin, and 56% of those treated with placebo were given transfusion (95% confidence intervals: difference between aprotinin versus placebo plus desmopressin 51% to 71%, p < 0.001). Fibrinolytic activation throughout cardiopulmonary bypass was markedly higher with placebo or desmopressin administration. D-dimer level correlated with overall blood loss in patients receiving desmopressin or placebo, but not in those receiving aprotinin.Conclusion. Aprotinin administration reduces blood loss and transfusion requirements in cardiopulmonary bypass. This benefit may be explained by a lower activation of fibrinolysis

Health care resources for stroke patients in Spain, 2010: Analysis of a national survey by the Cerebrovascular Diseases Study Group

Introduction: Stroke is currently a major social health problem. For this reason, the Spanish Ministry of Health approved the Stroke National Strategy (SNS) in 2008 to improve the prevention, treatment and rehabilitation of stroke patients. This plan intends to guarantee 24-h, 365-days neurological assistance in the whole country by the end of 2010. Our aim was to analyze the situation of stroke assistance in Spain in 2009. Material and methods: A committee of neurologists practicing in the different autonomous communities (AC), and who had not participated in the preparation of the SNS, was created. A national survey was performed including the number of stroke units (SU) and their characteristics (monitoring, 24-h/7-day on-call neurology service, nursing staff ratio and the use of protocols), bed ratio of SU/100,000 people, availability of intravenous thrombolysis therapy, neurovascular intervention (NI) and telemedicine. Results: We included data from 145 hospitals. There are 39 SUs in Spain, unevenly distributed. The ratio between SU bed/number of people/AC varied from 1/75,000 to 1/1,037,000 inhabitants; Navarra and Cantabria met the goal. Intravenous thrombolysis therapy is used in 80 hospitals; the number of treatments per AC was between 7 and 536 in 2008. NI was performed in 63% of the AC, with a total of 28 qualified hospitals (although only 1 hospital performed it 24 h, 7 days a week in 2009). There were 3 hospitals offering clinical telemedicine services. Conclusions: Assistance for stroke patients has improved in Spain compared to previous years, but there are still some important differences between the AC that must be eliminated to achieve the objectives of the SNS. Resumen: Introducción: El ictus constituye un importante problema sociosanitario. Por ese motivo, el Ministerio de Sanidad aprobó en 2008 la Estrategia Nacional en Ictus (ENI) con el objetivo de mejorar la prevención, tratamiento y rehabilitación del paciente con ictus. Se pretende garantizar una atención neurológica en todo el país y a cualquier hora del día para final del 2010. Nuestro objetivo fue analizar la situación de la atención al ictus en España en el año 2009. Material y métodos: Se constituyó un comité de neurólogos de las diferentes CC. AA. que no hubieran participado en la ENI. Se elaboró una encuesta nacional que recogió el número de unidades de ictus (UI) y la dotación (monitorización, guardia de neurología 24 h/7 días, ratio de enfermería y existencia de protocolos), ratio cama UI/100.000 habitantes, presencia de trombólisis iv, intervencionismo neurovascular (INV) y telemedicina. Resultados: Se incluyeron datos de 145 hospitales. Existen 39 UI distribuidas de un modo desigual. La relación cama de UI/número de habitantes/comunidad autónoma osciló entre 1/75.000 a 1/1.037.000 habitantes, cumpliendo el objetivo Navarra y Cantabria. Se realiza trombólisis iv en 80 hospitales, el número osciló entre 7-536 tratamientos/CC. AA. durante el año 2008. Se realiza INV en el 63% de las CC. AA., teniendo 28 centros capacitados, aunque sólo 1 la realizaba en 2009 las 24 h/7 día. Existen 3 centros con telemedicina. Conclusiones: La asistencia al ictus ha mejorado en España respecto a unos años atrás, pero todavía existen importantes desigualdades por CC. AA. que deberían superarse si se quiere cumplir el objetivo de la ENI. Keywords: Stroke, Stroke thrombolysis, Stroke unit, Facilities survey, Palabras clave: Ictus, Unidades de ictus, Trombólisis, Encuesta recurso

Recursos asistenciales en ictus en España 2010: análisis de una encuesta nacional del Grupo de Estudio de Enfermedades Cerebrovasculares

Resumen: Introducción: El ictus constituye un importante problema sociosanitario. Por ese motivo, el Ministerio de Sanidad aprobó en 2008 la Estrategia Nacional en Ictus (ENI) con el objetivo de mejorar la prevención, tratamiento y rehabilitación del paciente con ictus. Se pretende garantizar una atención neurológica en todo el país y a cualquier hora del día para final del 2010. Nuestro objetivo fue analizar la situación de la atención al ictus en España en el año 2009. Material y métodos: Se constituyó un comité de neurólogos de las diferentes CC. AA. que no hubieran participado en la ENI. Se elaboró una encuesta nacional que recogió el número de unidades de ictus (UI) y la dotación (monitorización, guardia de neurología 24 h/7 días, ratio de enfermería y existencia de protocolos), ratio cama UI/100.000 habitantes, presencia de trombólisis iv, intervencionismo neurovascular (INV) y telemedicina. Resultados: Se incluyeron datos de 145 hospitales. Existen 39 UI distribuidas de un modo desigual. La relación cama de UI/número de habitantes/comunidad autónoma osciló entre 1/75.000 a 1/1.037.000 habitantes, cumpliendo el objetivo Navarra y Cantabria. Se realiza trombólisis iv en 80 hospitales, el número osciló entre 7-536 tratamientos/CC. AA. durante el año 2008. Se realiza INV en el 63% de las CC. AA., teniendo 28 centros capacitados, aunque sólo 1 la realizaba en 2009 las 24 h/7 día. Existen 3 centros con telemedicina. Conclusiones: La asistencia al ictus ha mejorado en España respecto a unos años atrás, pero todavía existen importantes desigualdades por CC. AA. que deberían superarse si se quiere cumplir el objetivo de la ENI. Abstract: Introduction: Stroke is currently a major social health problem. For this reason, the Spanish Ministry of Health approved the Stroke National Strategy (SNS) in 2008 to improve the prevention, treatment and rehabilitation of stroke patients. This plan intends to guarantee 24-hour, 365-days neurological assistance in the whole country by the end of 2010. Our aim was to analyse the situation of stroke assistance in Spain in 2009. Material and methods: A committee of neurologists practicing in the different autonomous communities (AC), and who had not participated in the preparation of the SNS, was created. A national survey was performed including the number of stroke units (SU) and their characteristics (monitoring, 24-h/7-day on-call neurology service, nursing staff ratio and the use of protocols), bed ratio of SU/100,000 people, availability of intravenous thrombolysis therapy, neurovascular intervention (NI) and telemedicine. Results: We included data from 145 hospitals. There are 39 SU in Spain, unevenly distributed. The ratio between SU bed/number of people/AC varied from 1/75,000 to 1/1,037,000 inhabitants; Navarra and Cantabria met the goal. Intravenous thrombolysis therapy is used in 80 hospitals; the number of treatments per AC was between 7 and 536 in 2008. NI was performed in the 63% of the AC, with a total of 28 qualified hospitals (although only 1 hospital performed it 24 h, 7 days a week in 2009). There were 3 hospitals offering clinical telemedicine services. Conclusions: Assistance for stroke patients has improved in Spain compared to previous years, but there are still some important differences between the AC that must be eliminated to achieve the objectives of the SNS. Palabras clave: Ictus, Unidades de ictus, Trombólisis, Encuesta recursos, Keywords: Stroke, Stroke thrombolysis, Stroke unit, Facilities surve