Severe isoniazid related sideroblastic anemia.

Isoniazid induced sideroblastic anemia is a rare event. We report case of a 45 year old Caucasian women with development of severe anaemia 4 month after introduction of Isoniazid as part of Tuberculosis treatment. While haemoglobin fell to 47 g/L and erythrocyte count to 1.

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly spliced transcripts. Here, we genotyped for common CFTR variants and tested for associations in two ICP (ICP-A: 126 patients, 319 controls; ICP-B: 666 patients, 1,181 controls) and a CBAVD population (305 patients, 319 controls).

Nanoduct sweat testing for rapid diagnosis in newborns, infants and children with cystic fibrosis.

Determination of chloride concentration in sweat is the current diagnostic gold standard for Cystic Fibrosis (CF). Nanoduct is a new analyzing system measuring conductivity which requires only 3 microliters of sweat and gives results within 30 minutes. The aim of the study was to evaluate the applicability of this system in a clinical setting of three children's hospitals and borderline results were compared with sweat chloride concentration.