Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...

Biomonitoring survey conducted with glaucous gulls from Svalbard have demonstrated that this top-predator-scavenger species accumulates a wide array of chemicals of environmental concern, including organohalogens, trace elements, organometals, and several non-halogenated and non-metallic-compounds. Among these contaminants are those subjected to global bans or restrictions in North America and ...

Monitoring extracellular matrix (ECM) components is one of the key methods used to determine tissue quality in three-dimensional scaffolds for regenerative medicine and clinical purposes. Raman spectroscopy can be used for non-invasive sensing of cellular and ECM biochemistry. We have investigated the use of conventional (confocal and semiconfocal) Raman microspectroscopy and fibre-optic Raman ...

Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but us...

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) has been used here for the analysis of an unfractionated copolymer sample of poly(butyleneadipate-co-butyleneterephthalate) (PBA/PBT). This is our first report on unfractionated samples, since previous studies by MALDI-TOF MS have concerned copolymer fractions. Mass-resolved peaks are seen up to 8000 Da....

Editor Mastocytosis is a disorder characterized by mast cell (MC) proliferation and accumulation within various organs, most commonly the skin. Multiple KIT mutations have been reported in patients with adult mastocytosis, but the potential association of specific KIT mutations with specific subtypes of mastocytosis remains to be clarified. We present the case of a 32-year-old caucasian woman w...

Combining technologies to engineer scaffolds that can offer physical and chemical cues to cells is an attractive approach in tissue engineering and regenerative medicine. In this study, we have fabricated polymer-ceramic hybrid scaffolds for bone regeneration by combining rapid prototyping (RP), electrospinning (ESP) and a biomimetic coating method in order to provide mechanical support and a p...

In this study, hydroxyapatite, tetracalcium phosphate, HPEO/PBT 55145 copolymer, PEO/PBT 55!45 copolymer (Polyactive) and siiicone rubber were implanted as dense blocks, subcutaneously and. into the tibia of rats. Biocompatibility and degradation were investigated but most attention was directed to .the bone/biomaterial interactions. None of the matenals showed any significant adverse tissue re...

Scaffolds from poly(ethylene oxide) and poly(butylene terephthalate), PEOT/PBT, with a PEO molecular weight of 1,000 and a PEOT content of 70 weight% (1000PEOT70PBT30) were prepared by leaching salt particles (425-500 microm). Scaffolds of 73.5, 80.6 and 85.0% porosity were treated with a CO(2) gas plasma and seeded with rat bone marrow stromal cells (BMSCs). After in vitro culture for 7 days (...

Idiopathic Parkinson's disease (PD) is a complex disease caused by multiple, mainly unknown, genetic and environmental factors. The Ventral root avulsion 1 (Vra1) locus on rat chromosome 8 includes the Glutathione S-transferase alpha 4 (Gsta4) gene and has been identified in crosses between Dark Agouti (DA) and Piebald Virol Glaxo (PVG) rat strains as being associated to neurodegeneration after...