Budd-Chiari Syndrome in a Patient with JAK-2 V617F and Factor V G1691A Mutations.

Myeloproliferative neoplasms (MPN) are considered a risk factor for Budd-Chiari syndrome (BCS). The current classification of MPN by the World Health Organization is based on the presence of JAK-2 V617F somatic mutation, which is present in 40 to 60% of patients with BCS. Factor V Leiden mutation is found in around 53% of patients with BCS, representing the most common prothrombotic disease associated with the disorder. We describe a 48-year old woman with a past medical history of deep venous thrombosis in the left upper extremity and one episode in both lower extremities, one episode of transient ischaemic attack and essential thrombocythemia, who presented with jaundice, ascites and hepatomegaly. Budd-Chiari syndrome was diagnosed based on findings on Doppler ultrasound and liver biopsy. Doppler ultrasound showed narrowness of hepatic veins and inferior vena cava in its hepatic portion, diffuse echotexture and portal hypertension. Liver biopsy showed congestion of sinusoids and portal fibrosis. The patient was found to be a heterozygous carrier of Factor V and homozygous wild type G20210A prothrombin mutations. The JAK-2 V617F mutation was detected by allele-specific polymerase chain reaction (AS-PCR). The association of these mutations is rare, with only a few cases reported in the literature. The patient was treated with oral anticoagulation and antiplatelets with good results and proper follow-up. In conclusion, due to the possible coexistence of multiple prothrombotic factors in patients with Budd-Chiari syndrome, the approach to these patients must be focussed on searching for multiple factors and should include the JAK-2 V617F mutation.

Risk factors for wheezing in infants born in Cuba.

BACKGROUND: Cuba is a unique country, and despite limited economic development, has an excellent health system. However, the prevalence of asthma symptoms in children in Havana, Cuba, is unusually high. AIM: As early life exposures are critical to the aetiology of asthma, we have studied environmental influences on the risk of wheezing in Cuban infants. DESIGN: Cross-sectional study. METHODS: A random sample of 2032 children aged 12-15 months living in Havana was selected for inclusion in the cohort. Data were collected using questionnaires administered by researchers. RESULTS: Of 2032 infants invited to participate, 1956 (96%) infants provided data. The prevalence of any wheeze was 45%, severe wheeze requiring use of emergency services was 30% and recurrent wheeze on three or more occasions was 20%. The largest adjusted risk factors for any wheeze were presence of eczema [odds ratio (OR) 2.09; 95% confidence interval (CI) 1.48-2.94], family history of asthma (OR 2.05; 95% CI 1.60-2.62), poor ventilation in the house (OR 1.99; 95% CI 1.48-2.67), attendance at nursery (OR 1.78; 95% CI 1.24-2.57), male sex (OR1.52; 95% CI 1.19-1.96) and the number of smokers in the house (P < 0.03 for trend), OR 1.64 (95% CI 1.17-2.31) for three or more smokers in the house compared to no smokers in the household. CONCLUSION: We have identified several risk factors for any wheeze in young infants living in modern day Cuba. As the prevalence of smoking in the house is high (51%), intervention studies are required to determine effective strategies to improve infant health.