Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

Familial expansile osteolysis (FEO) is a rare disorder causing bone dysplasia. The clinical features of FEO include early-onset hearing loss, tooth destruction, and progressive lytic expansion within limb bones causing pain, fracture, and deformity. An 18-bp duplication in the first exon of the TNFRSF11A gene encoding RANK has been previously identified in four FEO pedigrees. Despite having the identical mutation, phenotypic variations among affected individuals of the same and different pedigrees were noted. Another 18-bp duplication, one base proximal to the duplication previously reported, was subsequently found in two unrelated FEO patients. Finally, mutations overlapping with the mutations found in the FEO pedigrees have been found in ESH and early-onset PDB pedigrees. An Iranian FEO pedigree that contains six affected individuals dispersed in three generations has previously been introduced; here, the clinical features of the proband are reported in greater detail, and the genetic defect of the pedigree is presented. Direct sequencing of the entire coding region and upstream and downstream noncoding regions of TNFRSF11A in her DNA revealed the same 18-bp duplication mutation as previously found in the four FEO pedigrees. Additionally, eight sequence variations as compared to the TNFRSF11A reference sequence were identified, and a haplotype linked to the mutation based on these variations was defined. Although the mutation in the Iranian and four of the previously described FEO pedigrees was the same, haplotypes based on the intragenic SNPs suggest that the mutations do not share a common descent.

Neural network controlled three-phase four-wire shunt active powerfilter

A three-phase four-wire shunt active power filter for harmonic mitigation and reactive power compensation in power systems supplying nonlinear loads is presented. Three adaptive linear neurons are used to tackle the desired three-phase filter current templates. Another feedforward three-layer neural network is adopted to control the output filter compensating currents online. This is accomplished by producing the appropriate switching patterns of the converter's legs IGBTs. Adequate tracking of the filter current references is obtained by this method. The active filter injects the current required to compensate for the harmonic and reactive components of the line currents, Simulation results of the proposed active filter indicate a remarkable improvement in the source current waveforms. This is reflected in the enhancement of the unified power quality index defined. Also, the filter has exhibited quite a high dynamic response for step variations in the load current, assuring its potential for real-time applications

Compression therapy in leg ulcer management

Led ulcer management is an important consideration for all nurses involved in the care of older people. Non-specialists in tissue viability might not always be aware of the evidence base for best practice. The authors examine the effectiveness of multi-layer and single-layer long or short stretch bandage systems in leg ulcer management.

Persistence times of four amphipod species in the stomachs of brown trout

Four amphipod species fed to brown trout Salina trutta persisted in an easily identifiable form in trout stomachs for similar lengths of time. The data also allowed estimation of the maximum length of time ingested amphipods could persist in an identifiable form in brown trout stomachs at different temperatures. The data are thus useful in assessment of fish feeding patterns on amphipod assemblages in the laboratory and field. (C) 2001 The Fisheries Society of the British Isles.

Huddling in groups leads to daily energy savings in free-living African Four-Striped Grass Mice, Rhabdomys pumilio

1. Free-living animals make complex decisions associated with optimizing energy and nutrient intake. In environments where ambient temperatures fall below the thermoneutral zone, homeotherms must choose whether or not to forage, how long and what to forage for, and whether or not to perform activities that conserve energy.

Ruthenium complexes of the 1,4-bis(diphenylphosphino)-1,3-butadiene-bridged diphosphine 1,2,3,4-Me-4-NUPHOS: Solvent-dependent interconversion of four- and six-electron donor coordination and transfer hydrogenation activity

In chloroform, [RuCl2(nbd)(py)(2)] (1) (nbd = norbornadiene; py = pyridine) reacts with 1,4-bis(diphenylphosphino)-1,2,3,4-tetramethyl-1,3-butadiene (1,2,3,4-Me-4-NUPHOS) to give the dimer [Ru2Cl3(eta(4)-1,2,3,4-Me-4-NUPHOS)(2)]Cl (2a), whereas, in THF [RuCl2(1,2,3,4-Me-4-NUPHOS)(PY)(2)] (3) is isolated as the sole product of reaction. Compound 2 exists as a 4:1 mixture of two noninterconverting isomers, the major with C, symmetry and the minor with either C, or C-2 symmetry. A single-crystal X-ray analysis of [Ru2Cl3 (eta(4)-1,2,3,4-Me-4-NUPHOS)(2)] [SbF6] (2b), the hexafluoroantimonate salt of 2a, revealed that the diphosphine coordinates in an unusual manner, as a eta(4)-six-electron donor, bonded through both P atoms and one of the double bonds of the butadiene tether. Compounds 2a and 3 react with 1,2-ethylenediamine (en) in THF to afford [RuCl2(1,2,3,4-Me-4-NUPHOS)(en)] (4), which rapidly dissociates a chloride ligand in chloroform to give [RuCl(eta(4)-1,2,3,4-Me-4-NUPHOS)(en)] [Cl] (5a). Complexes 4 and 5a cleanly and quantitatively interconvert in a solvent-dependent equilibrium, and in THF 5a readily adds chloride to displace the eta(2)-interaction and re-form 4. A single-crystal X-ray structure determination of [RuCl(eta(4)-1,2,3,4-Me-4-NUPHOS)(en)][ClO4] (5b) confirmed that the diphosphine coordinates in an eta(4)-manner as a facial six-electron donor with the eta(2)-coordinated double bond occupying the site trans to chloride. The eta(4)-bonding mode can be readily identified by the unusually high-field chemical shift associated with the phosphorus atom adjacent to the eta(2)-coordinated double bond. Complexes 2a, 2b, 4, and 5a form catalysts that are active for transfer hydrogenation of a range of ketones. In all cases, catalysts formed from precursors 2a and 2b are markedly more active than those formed from 4 and 5a.