Ectodermal dysplasia–skin fragility syndrome: a novel mutation in the PKP1 gene

Ectodermal dysplasia–skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, palmoplantar hyperkeratosis, onichodystrophy, perioral fissuring and noncicatricial alopecia. It is caused by plakophilin‐1 (PKP1) deficiency, which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case with a novel PKP1 mutation in intron 6.     

Central neuropathic pain in Parkinson's disease

INTRODUCTION: Central pain is one type of pain that occurs in patients with Parkinson's disease (PD). Because of its low incidence and prevalence, it often goes unnoticed and affected patients do not therefore receive adequate analgesic therapy, which increases their suffering. It is a burning pain with spontaneous onset and periods of exacerbation; pain is poorly localised and usually more intense on the more affected side. Its pathophysiology on patients with PD is not clearly defined. METHODS: We performed a search and systematic selection of all clinical studies published from January 1986 to September 2010 concerning central neuropathic pain in Parkinson's disease. CONCLUSIONS: Treatment with L-Dopa has not been demonstrated to have an analgesic effect on this type of pain. Future studies are required to improve our understanding of this condition, and to develop interventions for preventing and treating it.     

Mineral trioxide aggregate enriched with iron disulfide nanostructures: an evaluation of their physical and biological properties

The purpose of this study was to characterize mineral trioxide aggregates (MTA) enriched with iron disulfide (FeS₂) nanostructures at different concentrations, and to investigate their storage modulus, radiopacity, setting time, pH, cytotoxicity, and antimicrobial activity. Iron disulfide nanostructures [with particle size of 0.357 ± 0.156 μm (mean ± SD)] at weight ratios of 0.2, 0.4, 0.6, 0.8, and 1.0 wt% were added to white MTA (wMTA). The radiopacity, rheological properties, setting time, and pH, as well as the cytotoxicity (assessed using the MTT assay) and antibacterial activity (assessed using the broth microdilution test) were determined for MTA/FeS₂ nanostructures. The nanostructures did not modify the radiopacity values of wMTA (~6 mm of aluminium); however, they reduced the setting time from 18.2 ± 3.20 min to 13.7 ± 1.8 min, and the storage modulus was indicative of a good stiffness. Whereas the wMTA/FeS₂ nanostructures did not induce cytotoxicity when in contact with human pulp cells (HPCs) and human gingival fibroblasts (HGFs), they showed bacteriostatic activity against Staphylococcus aureus, Escherichia coli, and Enterococcus faecalis. Adding FeS₂ nanostructures to MTA might be an option for improving the root canal sealing and antibacterial effects of wMTA in endodontic treatments.     

Molecular Investigation of Tularemia Outbreaks,Spain, 1997–2008

Tularemia outbreaks occurred in northwestern Spain in 1997–1998 and 2007–2008 and affected >1,000 persons. We assessed isolates involved in these outbreaks by using pulsed-field gel electrophoresis with 2 restriction enzymes and multilocus variable number tandem repeat analysis of 16 genomic loci of Francisella tularensis, the cause of this disease. Isolates were divided into 3 pulsotypes by pulsed-field gel electrophoresis and 8 allelic profiles by multilocus variable number tandem repeat analysis. Isolates obtained from the second tularemia outbreak had the same genotypes as isolates obtained from the first outbreak. Both outbreaks were caused by genotypes of genetic subclade B.Br:FTNF002–00, which is widely distributed in countries in central and western Europe. Thus, reemergence of tularemia in Spain was not caused by the reintroduction of exotic strains, but probably by persistence of local reservoirs of infection.     

Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review

Clinical Rheumatology - Alkaptonuria is a rare, hereditary metabolic disorder in which a deficiency in the homogentisate 1,2-dioxygenase enzyme results in an accumulation of homogentisic acid....