Bleeding from oesophageal varices in pregnancy.

Bleeding from oesophageal varices is the most fearful event in pregnant women with cirrhosis and is the main cause of death in this group. Its approach and treatment are controversial, with ligation, sclerosis and ß-blockers as possible choices. Follow-up must be multidisciplinary and delivery programmed because of the high risk of bleeding. Delivery route is also controversial. We present a case of a pregnant woman, with alcoholic cirrhosis and upper tract bleeding during the second trimester of pregnancy. She was submitted to an oesophagogastroduodenoscopy (OGD), which revealed varices grade II/III in the lower third of the oesophagus. She was transfused and was haemodynamically stable. It was decided not to start ß-blockers. The pregnancy went well, with regular follow-up in obstetrics and hepatology. A deficiency of α-1 antitrypsin was detected. Delivery was programmed at 39 weeks of gestation, and a caesarean section was performed, with good maternal and fetal outcome.

Contribution for new genetic markers of rheumatoid arthritis activity and severity: sequencing of the tumor necrosis factor-alpha gene promoter.

The objective of this study was to assess whether clinical measures of rheumatoid arthritis activity and severity were influenced by tumor necrosis factor-alpha (TNF-alpha) promoter genotype/haplotype markers. Each patient's disease activity was assessed by the disease activity score using 28 joint counts (DAS28) and functional capacity by the Health Assessment Questionnaire (HAQ) score. Systemic manifestations, radiological damage evaluated by the Sharp/van der Heijde (SvdH) score, disease-modifying anti-rheumatic drug use, joint surgeries, and work disability were also assessed. The promoter region of the TNF-alpha gene, between nucleotides -1,318 and +49, was sequenced using an automated platform. Five hundred fifty-four patients were evaluated and genotyped for 10 single-nucleotide polymorphism (SNP) markers, but 5 of these markers were excluded due to failure to fall within Hardy-Weinberg equilibrium or to monomorphism. Patients with more than 10 years of disease duration (DD) presented significant associations between the -857 SNP and systemic manifestations, as well as joint surgeries. Associations were also found between the -308 SNP and work disability in patients with more than 2 years of DD and radiological damage in patients with less than 10 years of DD. A borderline effect was found between the -238 SNP and HAQ score and radiological damage in patients with 2 to 10 years of DD. An association was also found between haplotypes and the SvdH score for those with more than 10 years of DD. An association was found between some TNF-alpha promoter SNPs and systemic manifestations, radiological progression, HAQ score, work disability, and joint surgeries, particularly in some classes of DD and between haplotypes and radiological progression for those with more than 10 years of DD.