Degradation of the drug diclofenac in water by sonolysis in presence of catalysts.

Diclofenac, as one of the most popular antiphlogistics, is produced in great quantities. Nowadays this drug is ubiquitously present in the aquatic environment due to its resistance to biodegradation. Degradation by ultrasonic irradiation is a possibility to eliminate diclofenac from water without the addition of chemicals.

Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern Europe [CFTRdele2,3(21 kb)].

A 43-year-old otherwise healthy female patient presented with mild pancreatitis. Her family history revealed that her only son had cystic fibrosis. Genotyping of the patient demonstrated CFTR compound heterozygosity CFTRdele2,3(21 kb) and R117H and wild type alleles of the poly-T-tract in intron 8 (7T/7T).

CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy.

Objective: To analyze the CARD15 gene in families with heritable multi-organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions.

Methods: Linkage mapping was performed in 10 families. Observed recombination events were used to exclude regions centromeric or telomeric to 16q12.

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

Small supernumerary marker chromosomes (SMC) are a heterogeneous group of chromosomes with an estimated frequency of approximately 0.14-0.72 per 1000 newborns and higher frequencies in particular populations such as the mentally retarded or infertile males.

Intracytoplasmic sperm injection may increase the risk of imprinting defects.

In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external factors. We report two children who were conceived by intracytoplasmic sperm injection (ICSI) and who developed Angelman syndrome.