Exposure to N(2)O in healthcare workers is associated with alterations of vitamin B12 metabolic status, the extent of which depends on the level of exposure.

Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell-to-cell signaling during differentiation and is conserved from C. elegans to human. We report a paracentric inversion (PAI) of chromosome 20p12.2p13 in an individual with AGS who also had alpha-1-antitrypsin deficiency. To our knowledge, this is the first published case of PAI involving the short arm of chromosome 20. Using FISH, fiberFISH, and molecular studies with a approximately 40 kb cosmid clone encompassing the entire 36 kb JAG1 gene, we demonstrate that the gene was disrupted by the inversion breakpoint between exons 5 and 6. An unusual association between two most common causes of chronic liver disease in childhood, AGS and alpha-1-antitrypsin deficiency, as well as their influence on the proband's abnormal phenotype are discussed.

Alpha-1-antitrypsin phenotypes of umbilical cord serum from 741 Polish newborns were studied by isoelectric focusing. The frequencies of the PI alleles were: PI*M1 = 0.7199, PI*M2 = 0.1613, PI*M3 = 0.0965, PI*S = 0.0094, PI*Z = 0.0067, and PI*Var(F, I, L) = 0.0060. The data obtained for Poland were compared to those for other European populations.

The aim of this work was to assess the prevalence of a genetic predisposition to disseminated intravascular coagulation (DIC) among acutely poisoned patients. Activated protein C resistence (APCR) is a genetically determined cause of thrombophilia and DIC development. One hundred seventy-six subjects were divided into three groups: one consisted of 83 acutely poisoned patients with DIC; a second consisted of 57 acutely poisoned patients without DIC; the third group consisted of 91 healthy controls. Abnormal results of APCR testing were found in 24.1% of the poisoned DIC group, 5.3% of the poisoned nonDIC group, and 3.3% of the control group. Genetic tests were performed in 37 selected patients. Factor V Leiden mutation (G/A genotype) was determined to be present in people whose R index value was below 1.9. These results raise the possibility that outcomes of acute poisonings may be influenced by genetic predisposition.