Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the , including intronic and promoter regions, was achieved in the 556 individuals recruited the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing.

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.

The diagnosis of von Willebrand disease (VWD) remains difficult in a significant proportion of patients. A Spanish multicentre study investigated a cohort of 556 patients from 330 families who were analysed centrally. VWD was confirmed in 480.

Prophylaxis therapy in haemophilia A: current situation in Spain.

The Spanish Epidemiological Study in Haemophilia carried out in 2006 enrolled 2400 patients [2081-86.7% with haemophilia A (HA) and 319-13.3% with haemophilia B]; 465 of them (19.

Haemophilia in Spain.

To determine the prevalence of haemophilia A and B and their complications in Spain, and to characterize the health care network providing support to haemophiliac patients. The study examines clinical and genetic characteristics, treatment options, and complications observed during the course of the disease. Cross-sectional multi-centre study.

Development of a new disease-specific quality-of-life questionnaire to adults living with haemophilia.

A haemophilia-specific health-related quality-of-life questionnaire (named 'Hemofilia-QoL') was developed to assess quality-of-life in adults with haemophilia, and was psychometrically tested. Seventy-three interviews with haemophilia patients and health care professionals were used to generate the items included in the questionnaire, and expert ratings on the items formulated were used to screen them for potential omission. This was followed by psychometric testing in a sample of 35 patients.

[Recurrent ischemic strokes secondary to acquired hypercoagulability in a patient with prostatic adenocarcinoma].

Hypercoagulable states are frequently associated to malignancies. We report the case of a 67 year-old patient with prostatic cancer (T3NxM1) and deep venous thrombosis, whose initial coagulation studies were normal. He was treated with acenocumarol and hormonal blockade with flutamide and leuprolerin acetate.

A new Spanish family with Hb Louisville.

The clinical, hematological, and biochemical characteristics of a new family with heterozygous hemoglobin (Hb) Louisville are described. The family showed a decrease in both oxygen affinity and cooperativity with the normal Bohr effect. This family has the greatest number of affected members reported to date.

[Paget's disease involving the face. Apropos of 4 cases].

This study describes four cases of Paget's deforming dystrophy involving the jaw. In three of them the course of the disease affected only the bone involved whilst in the fourth the bones of the vault of the skull and some cranial nerves were affected in time. The prevalence of the female sex and of involvement of the maxilla was evident.