Osteology of the extant North American fishes of the genus Hiodon Lesueur, 1818 (Teleostei: Osteoglossomorpha: Hiodontiformes) / Eric J. Hilton.

n.s. no.100(2002)

HIV heterogeneity and proximity of homestead to roads in rural South Africa: an exploration using a geographical information system

OBJECTIVE To describe heterogeneity of HIV prevalence among pregnant women in Hlabisa health district, South Africa and to correlate this with proximity of homestead to roads. METHODS HIV prevalence measured through anonymous surveillance among pregnant women and stratified by local village clinic. Polygons were created around each clinic, assuming women attend the clinic nearest their home. A geographical information system (GIS) calculated the mean distance from homesteads in each clinic catchment to nearest primary (1 degrees) and to nearest primary or secondary (2 degrees) road. RESULTS We found marked HIV heterogeneity by clinic catchment (range 19-31% (P < 0.001). A polygon plot demonstrated lower HIV prevalence in catchments remote from 1 degrees roads. Mean distance from homesteads to nearest 1 degrees or 2 degrees road varied by clinic catchment from 1623 to 7569 m. The mean distance from homesteads to a 1 degrees or 2 degrees road for each clinic catchment was strongly correlated with HIV prevalence (r = 0.66; P = 0.002). CONCLUSIONS The substantial HIV heterogeneity in this district is closely correlated with proximity to a 1 degrees or 2 degrees road. GIS is a powerful tool to demonstrate and to start to analyse this observation. Further research is needed to better understand this relationship both at ecological and individual levels, and to develop interventions to reduce the spread of HIV infection.

Risk of multiple myeloma is associated with polymorphisms within telomerase genes and telomere length

Compelling biological and epidemiological evidences point to a key role of genetic variants of the TERT and TERC genes in cancer development. We analyzed the genetic variability of these two gene regions using samples of 2,267 multiple myeloma (MM) cases and 2,796 healthy controls. We found that a TERT variant, rs2242652, is associated with reduced MM susceptibility (OR?=?0.81; 95% CI: 0.72-0.92; p?=?0.001). In addition we measured the leukocyte telomere length (LTL) in a subgroup of 140 cases who were chemotherapy-free at the time of blood donation and 468 controls, and found that MM patients had longer telomeres compared to controls (OR?=?1.19; 95% CI: 0.63-2.24; ptrend ?=?0.01 comparing the quartile with the longest LTL versus the shortest LTL). Our data suggest the hypothesis of decreased disease risk by genetic variants that reduce the efficiency of the telomerase complex. This reduced efficiency leads to shorter telomere ends, which in turn may also be a marker of decreased MM risk.

Type 2 diabetes-related variants influence the risk of developing multiple myeloma: results from the IMMEnSE consortium

Type 2 diabetes (T2D) has been suggested to be a risk factor for multiple myeloma (MM), but the relationship between the two traits is still not well understood. The aims of this study were to evaluate whether 58 genome-wide-association-studies (GWAS)-identified common variants for T2D influence the risk of developing MM and to determine whether predictive models built with these variants might help to predict the disease risk. We conducted a case–control study including 1420 MM patients and 1858 controls ascertained through the International Multiple Myeloma (IMMEnSE) consortium. Subjects carrying the KCNQ1rs2237892T allele or the CDKN2A-2Brs2383208G/G, IGF1rs35767T/T and MADDrs7944584T/T genotypes had a significantly increased risk of MM (odds ratio (OR)=1.32–2.13) whereas those carrying the KCNJ11rs5215C, KCNJ11rs5219T and THADArs7578597C alleles or the FTOrs8050136A/A and LTArs1041981C/C genotypes showed a significantly decreased risk of developing the disease (OR=0.76–0.85). Interestingly, a prediction model including those T2D-related variants associated with the risk of MM showed a significantly improved discriminatory ability to predict the disease when compared to a model without genetic information (area under the curve (AUC)=0.645 vs AUC=0.629; P=4.05×10-06). A gender-stratified analysis also revealed a significant gender effect modification for ADAM30rs2641348 and NOTCH2rs10923931 variants (Pinteraction=0.001 and 0.0004, respectively). Men carrying the ADAM30rs2641348C and NOTCH2rs10923931T alleles had a significantly decreased risk of MM whereas an opposite but not significant effect was observed in women (ORM=0.71 and ORM=0.66 vs ORW=1.22 and ORW=1.15, respectively). These results suggest that TD2-related variants may influence the risk of developing MM and their genotyping might help to improve MM risk prediction models.

Macroepizoísmo em Libinia ferreirae (Crustacea, Brachyura, Majidae)

Um estudo de distribuição dos macroepizóicos foi realizado numa população do caranguejo-aranha Libinia ferreirae Brito Capello, 1871 proveniente do litoral dos estados do Paraná e de Santa Catarina. O material biológico foi obtido junto aos pescadores, e faz parte do rejeito de pesca. Os caranguejos foram mensurados e os macroepizóicos identificados e contados. Os seguintes macroepizóicos sésseis foram registrados: Calliactis tricolor (Lesueur, 1817) (Cnidaria); Actiniaria (Cnidaria); Arca sp. (Mollusca); Ostreidae (Mollusca); Acanthodesia tenuis (Desor, 1848) (Bryozoa); Cirripedia e duas espécies tubícolas de Gammaridea (Crustacea). Além destes organismos ocorreram dois tubos desabitados e quatro animais vágeis. A anêmona C. tricolor foi a espécie mais abundante e freqüente, sendo, provavelmente, utilizada como mecanismo de camuflagem pelo caranguejo. O macroepizoísmo em L. ferreirae está relacionado com a idade ou tamanho do caranguejo, tendo maior incidência naqueles mais velhos ou de maior porte. Entretanto, a densidade dos macroepizóicos por caranguejo se mantém em torno de três. Não há relação entre o macroepizoísmo e o sexo do hospedeiro; somente fêmeas ovígeras utilizam desse recurso mais freqüentemente do que as não-ovígeras. Devido à maior área de fixação, os macroepizóicos colonizam principalmente a carapaça do caranguejo, enquanto nos pereiópodos há predominância de Bryozoa.

Genetics and molecular epidemiology of multiple myeloma: the rationale for the IMMEnSE consortium (review).

There is strong evidence suggesting the presence of a genetic component in the aetiology of multiple myeloma (MM). However no genetic risk factors have been unequivocally established so far. To further our understanding of the genetic determinants of MM risk, a promising strategy is to collect a large set of patients in a consortium, as successfully done for other cancers. In this article, we review the main findings in the genetic susceptibility and pharmacogenetics of MM and present the strategy of the IMMEnSE (International Multiple Myeloma rESEarch) consortium in contributing to determine the role of genetic variation in pharmacogenetics and in MM risk.

Autophagosome maturation is impaired in Fabry disease.

Fabry disease is a lysosomal storage disorder (LSD) caused by a deficiency in alpha-galactosidase A. The disease is characterized by severe major organ involvement, but the pathologic mechanisms responsible have not been elucidated. Disruptions of autophagic processes have been reported for other LSDs, but have not yet been investigated in Fabry disease. Renal biopsies were obtained from five adult male Fabry disease patients before and after three years of enzyme replacement therapy (ERT) with agalsidase alfa. Vacuole accumulation was seen in renal biopsies from all patients compared with control biopsies. Decreases in the number of vacuoles were seen after three years of ERT primarily in renal endothelial cells and mesangial cells. Measurement of the levels of LC3, a specific autophagy marker, in cultured cells from Fabry patients revealed increased basal levels compared to cells from non-Fabry subjects and a larger increase in response to starvation than seen in non-Fabry cells. Starvation in the presence of protease inhibitors did not result in a significant increase in LC3 in Fabry cells, whereas a further increase in LC3 was observed in non-Fabry cells, an observation that is consistent with impaired autophagic flux in Fabry disease. Overexpression of LC3 mRNA in Fabry fibroblasts compared to control cells is consistent with an upregulation of autophagy. Furthermore, LC3 and p62/SQSTM1 (that binds to LC3) staining in renal tissues and in cultured fibroblasts from Fabry patients supports impairment of autophagic flux. These findings suggest that Fabry disease is linked to a deregulation of autophagy.

Resultados científicos do cruzeiro do "Baependi" e do "Vega" à Ilha da Trindade: o gênero Firoloida, Prosobranchia Heteropoda

From the Jaseur Bank, off the Brazilian coast at 20º 30' S - 35º 50' W, were collected a few specimens of one of the less known species of the Heteropoda: Firoloida lesueuri (d'Orbigny). A detailed anatomical description follows aiming at the elucidation of some obscure points in the litterature on the subject and at showing the identity of most of the previously described "species" of the genus Firoloida. Special care was taken with the study of the nervous system of which most of the descriptions found were discordant. The author arrived at the conclusion that the pleural ganglia are either missing of fused to the cerebral ganglia, that the supraintestinal ganglion (left parietal ganglion) is present in the posterior region and is close to the subintestinal or right parietal ganglion, being both located near the rear end of the body. The innervations are described and discussed as well as the fusion of extensive tracts of the connectives. The present material is shown to be identical to F. kowalewskyi, well described by Vayssière and Tesch; F. desmaresti (Lesueur 1817) is shown to be undistinguishable from F. blainvilleana and F. gracilis. F. aculeata and F. gaimardi are here considered as "nomina nuda". F. liguriae Issel 1907 is admitted as separate species in spite of its insufficient description and, finally, F. vigilans (Troschel 1855), unsatisfactorily described from only one specimen is perhaps a valid species. A table is presented to show the slight differences between the 4 species which are undoubtedly very similar. F. desmaresti is found only in the Atlantic north of the line and a few points south and close to it as well as in dependent seas, while F. lesueuri is common to the south Atlantic, south Indie and south Pacific oceans, extending north only up to the Azores Islands. F. liguriae is from the south western Atlantic. ?F. vigilans would be an endemic species from Messina (Mediterranean).