Retinitis pigmentosa (RP) is a severe hereditary eye disorder characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Two of the RP associated mutations were found in the CNGB1 gene that encodes the B subunit of the rod cyclic nucleotide-gated channel (CNGB1a). One of them (c.3444+1G>A) is located at the donor site of exon 32 and has been proposed to result in...

Results The isolate was confirmed as E. coli O25b-sequence type (ST) 131 clone of B2 phylogenetic group. The isolate was resistant to all antibiotics tested except sulfamethoxazole, trimethoprim and nitrofurantoin and Etest confirmed that it is highly resistant to meropenem, imipenem, ciprofloxacin, cefotaxime and ceftazidime with MIC values of >16 mg/l, 32 mg/l, >64 mg/l, 32 mg/l & >32mg/l res...

We sought to study the nature of rifampicin resistance in Pseudomonas aeruginosa. We hypothesized that the rifamycin regions of RNA polymerase are conserved in P. aeruginosa and that rifampicin resistance is mediated by a mutation in the rpoB gene encoding the beta subunit of RNA polymerase. Transcription assays showed that 50 nM of rifampicin inhibited transcription > 99% in a clinical isolate...

Thanatophore dysplasia is a rare lethal bone dysplasia. It caused bya genetic mutation. There are two subtypes which very similar in their distinct radiological characteristics and mutations. Early diagnosis imperative based on antenatal ultrasound data.We report case of type I thanatophore diagnosed at 32 weeks amenorrhea 14 days by routine an 18-year-old woman, with no known family malformati...

How to spend your money is a difficult question and most easily solved by giving it, with all its worries, to us. As long as this is not yet done, one has to balance at old age the need for medication and other medical support against the need to buy healthy food and other goods needed for survival. We simulate this problem here with the Penna ageing model [1], an implementation of the mutation...

It has long been known that almost all isoniazid (INH) resistant mycobacteria lose the catalase and peroxidase activities along with reduced or no virulence for guinea pigs. Recently resistance to INH has become known to be associated with mutations of katG gene encoding the HPI (Hydroperoxidase I) type catalase and peroxidase. Among these mutations, the point mutation of codon 463 of katG gene...

BACKGROUND Mutations in the peripheral myelin protein 22 (PMP-22) gene are the most common cause of Charcot-Marie-Tooth neuropathy and may rarely occur in combination with other neurogenetic diseases. OBJECTIVE To characterize 3 families having a mutation in PMP-22 in addition to another neurogenetic disease mutation. DESIGN Clinical, electrophysiologic, and genetic evaluations were made of...