Several common age-related mechanisms and factors influence muscle and bone, affecting functionality of both tissues. Sarcopenia is closely linked with osteoporosis, and their combined effect may exacerbate negative health outcomes. Fall-related fractures are some of the most serious consequences of these two systemic pathologies, with hip fracture being a major complication affecting osteoporotic and sarcopenic elderly. This work aims to review the literature on the current state of knowledge about the relations between sarcopenia and osteoporosis and to present the association between sarcopenia and osteoporosis and the risk of hip fracture. A literature search was performed in PubMed and Scopus databases for articles with the predefined terms "sarcopenia," "muscular atrophy," "femoral fractures," "hip fractures," "osteoporosis," and "bone density." There is a growing and significant interest being directed to sarcopenia and associated risk for osteoporotic hip fracture, but there still is a notorious heterogeneity in the methodology and cohort size of the available studies. Collectively, most of the studies herein analyzed indicate that sarcopenia could be a predictor of risk for hip fracture. The simultaneous evaluation of sarcopenia and osteoporosis may be of importance in identifying those patients in higher risk of suffering an osteoporotic hip fracture and who could benefit from preventive or therapeutic interventions, or both.

The tyrosine phosphatase PTPN22 allele 1858T has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. RA is the most frequent of those multifactorial diseases. The RA association was usually restricted to serum rheumatoid factor positive disease (RF ؉ ). No interaction was shown with HLA-DRB1, the first RA gene. Many case-control studies replicated the RA association, showing an allele frequency increase of Ϸ5% on average and large variations of population allele frequencies (2.1-15.5%). In multifactorial diseases, the final proof for a new susceptibility allele is provided by departure from Mendel's law (50% transmission from heterozygous parents). For PTPN22-1858T allele, convincing linkage proof was available only for type 1 diabetes. We aimed at providing this proof for RA. We analyzed 1,395 West European Caucasian individuals from 465 ''trio'' families. We replicated evidence for linkage, demonstrating departure from Mendel's law in this subset of early RA onset patients. We estimated the overtransmission of the 1858T allele in RF ؉ families: T ‫؍‬ 63%, P < 0.0007. The 1858T allele frequency increased from 11.0% in controls to 17.4% in RF ؉ RA for the French Caucasian population and the susceptibility genotype (1858T/T or T/C) from 20.2% to 31.6% [odds ratio (OR) ‫؍‬ 1.8 (1.2-2.8)]. In conclusion, we provided the linkage proof for the PTPN22-1858T allele and RF ؉ RA. With diabetes and RA, PTPN22 is therefore a ''linkage-proven'' autoimmunity gene. PTPN22 accounting for Ϸ1% of the RA familial aggregation, many new genes could be expected that are as many leads to definitive therapy for autoimmune diseases.linkage analysis ͉ R620W polymorphism ͉ rheumatoid factor ͉ transmission disequilibrium ͉ LYP protein

Introduction A candidate gene approach, in a large case-control association study in the Dutch population, has shown that a 480 kb block on chromosome 4q27 encompassing KIAA1109/Tenr/IL2/ IL21 genes is associated with rheumatoid arthritis. Compared with case-control association studies, family-based studies have the added advantage of controlling potential differences in population structure. Therefore, our aim was to test this association in populations of European origin by using a family-based approach.

No abstract

No abstract

No abstract

The integrin αvβ3, whose αv subunit is encoded by the ITGAV gene, plays a key role in angiogenesis. Hyperangiogenesis is involved in rheumatoid arthritis (RA) and the ITGAV gene is located in 2q31, one of the suggested RA susceptibility loci. Our aim was to test the ITGAV gene for association and linkage to RA in a family-based study from the European Caucasian population.Two single nucleotide polymorphisms were genotyped by PCRrestriction fragment length polymorphism in 100 French Caucasian RA trio families (one RA patient and both parents), 100 other French families and 265 European families available for replication. The genetic analyses for association and linkage were performed using the comparison of allelic frequencies (affected family-based controls), the transmission disequilibrium test, and the genotype relative risk.We observed a significant RA association for the C allele of rs3738919 in the first sample (affected family-based controls, RA index cases 66.5% versus controls 56.7%; P = 0.04). The second sample showed the same trend, and the third sample again showed a significant RA association. When all sets were combined, the association was confirmed (affected familybased controls, RA index cases 64.6% versus controls 58.1%; P = 0.005). The rs3738919-C allele was also linked to RA (transmission disequilibrium test, 56.5% versus50% of transmission; P = 0.009) and the C-allele-containing genotype was more frequent in RA index cases than in controls (RA index cases 372 versus controls 339; P = 0.002, odds ratio = 1.94, 95% confidence interval = 1.3-2.9). The rs3738919-C allele of the ITGAV gene is associated with RA in the European Caucasian population, suggesting ITGAV as a new minor RA susceptibility gene. AFBAC = affected family-based controls; bp = base pair; GRR = genotype relative risk; PCR = polymerase chain reaction; RA = rheumatoid arthritis; SNP = single nucleotide polymorphism; TDT = transmission disequilibrium test.

A new concept is presented for green analytical applications based on coupling on-line high-intensity focused ultrasound (HIFU) with a sequential injection/flow injection analysis (SIA/FIA) system. The potential of the SIA/HIFU/FIA scheme is demonstrated by taking mercury as a model analyte. Using inorganic mercury, methylmercury, phenylmercury, and diphenylmercury, the usefulness of the proposed methodology for the determination of inorganic and total mercury in waters and urine was demonstrated. The procedure requires low sample volumes and reagents and can be further applied to all chemical reactions involving HIFU. The inherent advantages of SIA, FIA, and HIFU applications in terms of high throughput, automation, low reagent consumption, and green chemistry are accomplished together for the first time in the present work.