Genetic heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2

The identification of genes responsible for the rare cases of familial leukemia may afford insight into the mechanism underlying the more common sporadic occurrences. Here we test a single family with 11 relevant meioses transmitting autosomal dominant acute myelogenous leukemia (AML) and myelodysplasia for linkage to three potential candidate loci. In a different family with inherited AML, linkage to chromosome 21q22.1-22.2 was recently reported; we exclude linkage to 21q22.1-22.2, demonstrating that familial AML is a heterogeneous disease. After reviewing familial leukemia and observing anticipation in the form of a declining age of onset with each generation, we had proposed 9p21-22 and 16q22 as additional candidate loci. Whereas linkage to 9p21-22 can be excluded, the finding of a maximum two-point LOD score of 2.82 with the microsatellite marker D16S522 at a recombination fraction theta = 0 provides evidence supporting linkage to 16q22. Haplotype analysis reveals a 23.5-cM (17.9-Mb) commonly inherited region among all affected family members extending from D16S451 to D1GS289, In order to extract maximum linkage information with missing individuals, incomplete informativeness with individual markers in this interval, and possible deviance from strict autosomal dominant inheritance, we performed nonparametric linkage analysis (NPL) and found a maximum NPL statistic corresponding to a P-value of .00098, close to the maximum conditional probability of linkage expected for a pedigree with this structure. Mutational analysis in this region specifically excludes expansion of the AT-rich minisatellite repeat FRA16B fragile site and the CAG trinucleotide repeat in the E2F-4 transcription factor. The ''repeat expansion detection'' method, capable of detecting dynamic mutation associated with anticipation, more generally excludes large CAG repeat expansion as a cause of leukemia in this family.

Immunogenicity of 23-valent pneumococcal polysaccharide vaccine in HIV-infected pregnant women and kinetics of passively acquired antibodies in young infants

Whether gestational immunization of HIV-infected mothers with the 23-valent pneumococcal polysaccharide vaccine (PPV) confers maternal and infant early life, passive protection is not known. We evaluated safety, immunogenicity and placental transfer of antibodies in 44 HIV-infected women. Pneumococcal IgG antibodies against serotypes 1, 3, 5, 613, 9V, and 14 were measured in mothers (pre-vaccination and at delivery), and infants (at birth, 1, 2, 3, and 6 months). PPV was safe and immunogenic in mothers. Newborns received 46-72% of maternal antibody titers. Overall, infants had antibody levels lower than protective by 2 months of age. Alternative pneumococcal vaccination of HIV-infected pregnant women should be explored with the aim of prolonging passive protection in their infants. (C) 2009 Elsevier Ltd. All rights reserved.

Prostaglandin mediates IL-23/IL-17-induced neutrophil migration in inflammation by inhibiting IL-12 and IFN gamma production

IL-23/IL-17-induced neutrophil recruitment plays a pivotal role in rheumatoid arthritis (RA). However, the mechanism of the neutrophil recruitment is obscure. Here we report that prostaglandin enhances the IL-23/IL-17-induced neutrophil migration in a murine model of RA by inhibiting IL-12 and IFN gamma production. Methylated BSA (mBSA) and IL-23-induced neutrophil migration was inhibited by anti-IL-23 and anti-IL-17 antibodies, COX inhibitors, IL-12, or IFN gamma but was enhanced by prostaglandin E(2) (PGE(2)). IL-23-induced IL-17 production was increased by PGE(2) and suppressed by COX-inhibition or IL-12. Furthermore, COX inhibition failed to reduce IL-23-induced neutrophil migration in IL-12- or IFN gamma-deficient mice. IL-17-induced neutrophil migration was not affected by COX inhibitors, IL-12, or IFN gamma but was inhibited by MK886 (a leukotriene synthesis inhibitor), anti-TNF alpha, anti-CXCL1, and anti-CXCL5 antibodies and by repertaxin (a CXCR1/2 antagonist). These treatments all inhibited mBSA- or IL-23-induced neutrophil migration. IL-17 induced neutrophil chemotaxis through a CXC chemokines-dependent pathway. Our results suggest that prostaglandin plays an important role in IL-23-induced neutrophil migration in arthritis by enhancing IL-17 synthesis and by inhibiting IL-12 and IFN gamma production. We thus provide a mechanism for the pathogenic role of the IL-23/IL-17 axis in RA and also suggest an additional mechanism of action for nonsteroidal anti-inflammatory drugs.

Influence of anesthetics on pharyngeal flap surgery: a 23-year study

This study assessed the influence of anesthetics on early complications after pharyngeal flap surgery. A 23-year retrospective chart review was carried out of all patients at the authors` institution who underwent superiorly based pharyngeal flap surgery. Variables analyzed were gender, age at the time of surgery, cleft type, anesthesia procedure used and complications in the early postoperative period. 2299 patients (50% male; 50% female) who underwent pharyngeal flap surgery between 1980 and 2003 were reviewed. The highest number of surgeries was performed in patients aged 11-20 years. There were 1042 patients with at least one type of complication. Of these, 39 required reoperation to control complications such as bleeding and airway obstruction. There were no records of death. Vomiting and pain were the most frequent postoperative complications (16% and 14% of patients, respectively). Lower complication rates were observed when anesthesia protocols included sevoflurane, propofol and opioids.

Monostotic fibrous dysplasia: a 23-year follow-up of a patient with spontaneous bone remodeling

Fibrous dysplasia is a benign fibro-osseous disease that affects one or more bones. Although its etiology has been defined, the mechanism of spontaneous resolution is still unclear. There is strong evidence indicating the occurrence of stabilization when bone maturation is completed. Deformities that lead to esthetic and functional disorders are observed in almost all cases. Plastic surgery is often recommended when the maxilla and mandible are involved. In the case of mild deformities, careful follow-up during skeletal growth is recommended. We describe here the 23-year follow-up of a patient with monostotic fibrous dysplasia whose disease had stabilized by 13 years of follow-up. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009; 107: 229-234)

Cytotoxic Effects of Different Concentrations of a Carbamide Peroxide Bleaching Gel on Odontoblast-Like Cells MDPC-23

This study evaluated the cytotoxic effects of a carbamide peroxide (CP) bleaching gel at different concentrations on odontoblast-like cells. Immortalized cells of the MDPC-23 cell line (30,000 cells/cm(2)) were incubated for 48 h. The bleaching gel was diluted in DMEM culture medium originating extracts with different CP concentrations. The amount (mu g/mL) of hydrogen peroxide (H(2)O(2)) released from each extract was measured by the leukocrystal violet/horseradish peroxidase enzyme assay. Five groups (n = 10) were formed according to the CP concentration in the extracts: G1-DMEM (control); G2-0.0001 % CP (0.025 mu g/mL H(2)O(2)); G3-0.001% CP (0.43 mu g/mL H(2)O(2)); G4-0.01% CP (2.21 mu g/mL H(2)O(2)); and G5-0.1 % CP (29.74 mu g/mL H(2)O(2)). MDPC-23 cells were exposed to the bleaching gel extracts for 60 min and cell metabolism was evaluated by the NITT assay. Data were analyzed statistically by one-way ANOVA and Tukey`s test (alpha = 0.05). Cell morphology was examined by scanning electron microscopy. The percentages of viable cells were as follows: G1, 100%; G2, 89.41%; G3, 82.4%; G4, 61.5%; and G5, 23.0%. G2 and G3 did not differ significantly (p > 0.05) from G1. The most severe cytotoxic effects were observed in G3 and G4. In conclusion, even at low concentrations, the CP gel extracts presented cytotoxic effects. This cytotoxicity was dose-dependent, and the 0.1% CP concentration caused the most intense cytopathic effects to the MDPC-23 cells. (C) 2009 Wiley Periodicals, Inc. J Biomed Mater Res Part B: Appl Biomater 9013: 907-912, 2009

A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

Background & Aims: Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y mutation have been well characterized, the effects of the H63D mutation remain unclear. We accessed a well-defined population in Busselton, Australia, and determined the frequency of the H63D mutation and its influence on total body iron stores. Methods: Serum transferrin saturation and ferritin levels were correlated with the H63D mutation in 2531 unrelated white subjects who did not possess the C282Y mutation. Results: Sixty-two subjects (2.1%) were homozygous for the H63D mutation, 711 (23.6%) were heterozygous, and 1758 (58.4%) were wild-type for the H63D mutation. Serum transferrin saturation was significantly increased in male and female H63D homozygotes and heterozygotes compared with wild-types. Serum ferritin levels within each gender were not influenced by H63D genotypes. Elevated transferrin saturation greater than or equal to45% was observed in a greater proportion of male H63D carriers than male wild-types. Male H63D homozygotes (9%) and heterozygotes (3%) were more likely to have both elevated transferrin saturation and elevated ferritin greater than or equal to300 ng/mL than male wild-types (0.7%). Homozygosity for H63D was not associated with the development of clinically significant iron overload. Conclusions: Presence of the H63D mutation results in a significant increase in serum transferrin saturation but does hot result in significant iron overload. In the absence of the C282Y mutation, the H63D mutation is not clinically significant.

Selective ingestion of pelagic versus benthic algae by the cockle Cerastoderma edule (Linne, 1758)

The pre-ingestive selection of microphytobenthic algae by the cockle Cerastoderma edule was studied in comparison with diets containing the pelagic diatom Phaeodactylum tricomutum. Treatments with the different diets covered a range of seston concentrations and organic content similar to field conditions. Rejection rates of C. edule exposed to the different treatments were significantly correlated with the concentration of total particulate matter. No significant differences in total rejection rates were found between pelagic and benthic diets. Organic rejection rate was significantly correlated with particulate organic matter of the treatments and no significant differences were found between both diets. Selection efficiency was significantly correlated with particulate organic matter concentration in both diets and no significant differences were found between the diets. Analysis of the pseudofeces composition by flow cytometry from cockles exposed to a mixed diet of microphytobenthic algae and P. tricornutum, showed a preferential ingestion of the pelagic diatom. Benthic species, such as small pennates and Navicula sp., were preferentially ingested in comparison to larger microphytobenthic species. The largest microphytobenthic species, Cylindrotheca sp., was significantly rejected. In general, C. edule is an opportunistic filter feeder that takes advantage of both pelagic and benthic algal cells.

Texto para discuss??o 23: reforma administrativa e direito adquirido

A Constitui????o n??o se interpreta mediante a lei ordin??ria; a lei ?? que tem a sua interpreta????o condicionada pela Constitui????o. A garantia constitucional inscrita no art. 5o, XXXVI, por expressa determina????o constitucional, tem aplica????o imediata (art. 5o, ??1o, CF), independendo de preceito legal regulador. Se o conceito de direito adquirido constitu??sse mat??ria de car??ter ordin??rio, a garantia constitucional do direito adquirido estaria de modo indireto ?? disposi????o do legislador, subordinada aos seus humores, esvaziada enquanto norma de prote????o individual. Al??m disso, ter??amos de admitir o paradoxo de um limite ao legislador depender da atua????o do pr??prio legislador

Fauna de Dissomphalus Ashmead (Hymenoptera, Bethylidae) da Mata Atlântica Brasileira, com descrição de 23 espécies novas

Foram realizadas coletas padronizadas em 18 pontos ao longo da Mata Atlântica Brasileira no escopo do Programa BIOTA/FAPESP usando-se varredura de vegetação, e armadilhas Malaise e Möricke. Foi coletado um total de 2.811 exemplares de Dissomphalus. Foram reconhecidas 30 espécies descritas, a saber: Dissomphalus conicus Azevedo, 2003, D. h-ramus Redighieri & Azevedo, 2004, D. laminaris Redighieri & Azevedo, 2004, D. manus Azevedo, 2003, D. umbilicus Azevedo, 2003, D. verrucosus Redighieri & Azevedo, 2004, D. alticlypeatus Azevedo, 2003, D. bicerutus Azevedo, 2003, D. gilvipes Evans, 1979, D. krombeini Azevedo, 1999, D. gordus Azevedo, 2003, D. undatus Azevedo, 2003, D. cristatus Redighieri & Azevedo, 2004, D. laticephalus Azevedo, 2003, D. lobicephalus Azevedo, 2003, D. completus Azevedo, 1999, D. gigantus Azevedo, 1999, D. scamatus Azevedo, 1999, D. napo Evans, 1979, D. punctatus (Kieffer, 1910), D. infissus Evans, 1969, D. plaumanni Evans, 1964, D. concavatus Azevedo, 1999, D. rectilineus Azevedo, 1999, D. bifurcatus Azevedo, 1999, D. extrarramis Azevedo, 1999, D. strictus Azevedo, 1999, D. connubialis Evans, 1966, D. microstictus Evans, 1969, D. scopatus Redighieri & Azevedo, 2004. Além disso, foram descritas e ilustradas 23 espécies novas: Dissomphalus inclinatus sp. nov., D. divisus sp. nov., D. distans sp. nov., D. crassus sp. nov., D. filiformis sp. nov., D. inflexus sp. nov., D. spissus sp. nov., D. firmus sp. nov., D. setosus sp. nov., D. tubulatus sp. nov., D. differens sp. nov., D. lamellatus sp. nov., D. fimbriatus sp. nov., D. magnus sp. nov., D. trilobatus sp. nov., D. amplifoveatus sp. nov., D. personatus sp. nov., D. excellens sp. nov., D. peculiaris sp. nov., D. bahiensis sp. nov., D. amplexus sp. nov., D. elegans sp. nov. e D. amplus sp. nov.. Foram propostos 2 grupos novos de espécies, brasiliensis com duas espécies e setosus com oito espécies. Dissomphalus connubialis Evans, 1966 foi revalidado a partir de D. brasiliensis Kieffer, 1910. Dissomphalus bispinulatus Evans, 1969 foi considerado sinônimo junior de D. brasiliensis. Foi proposto para o gênero uma chave de espécies Neotropicais baseada em machos. Algumas espécies como Dissomphalus rectilineus, D. plaumanni, D. connubialis e D. gigantus são amplamente distribuídos ao longo deste bioma. Por outro lado, espécies como Dissomphalus completus, D. bifurcatus, D. napo, D. gilvipes, D. microstictus, D. brasiliensis, D. scamatus, D. strictus, D. undatus, D. alticlypeatus, D. laticephalus, D. verrucosus, D. extrarramis, D. concavatus, D. krombeini, D. gordus, D. lobicephalus e 13 espécies novas são restritas a regiões específicas, apresentando congruência com os subcentros deste bioma.

Leaf consumption and duration of instars of the cassava defoliator Erinnyis ello (L., 1758) (Lepidoptera, Sphingidae)

The objectives of this research were to evaluate leaf consumption and the developmental time of the larvae of Erynnyis ello (L., 1758) (Lepidoptera, Sphingidae) reared on cassava, in order to obtain information for the integrated management of this pest. The larvae were reared on excised cassava leaves in Petri dishes and later in gerbox, and kept in chambers at 24 ± 2 ºC and 75 ± 10% RH. The total leaf area consumed by the larva to complete its development was 589.67 cm2; each of the five instars consumed, respectively: 1.89 cm2; 5.74 cm2; 17.48 cm2; 76.66 cm2; and 487.90 cm2. The consumption by the first three instars was insignificant, and did not reach 5% altogether; the 4th represented 13%; the 5th presented a consumption significantly higher, about 82.7%. The total time for the larval development was 22.61 days, and the duration for each of the five larval instar was, respectively: 4.35; 3.19; 3.32; 4.52; and 4.94 days. The pre-pupal period lasted 2.29 days. Since the highest consumption is by the 5th instar larva, the control should be applied before this age to avoid heavier damages to the cassava crop.

Revisão dos parasitas e outros agentes infecciosos que afectam as populações ibéricas de um carnívoro social - o texugo euroasiático (Meles Meles, Linnaeus 1758)

O texugo euroasiático é um dos carnívoros ibéricos passível de funcionar como reservatório de algumas zoonoses que podem afectar os animais domésticos, outros animais silvestres ou o Homem, cuja ecologia (ex. sociabilização) promove a manutenção e dispersão de algumas patologias. A listagem dos parasitas e das doenças infecciosas que afectam este predador na Europa foi já profundamente detalhada, mas nesses trabalhos há uma ausência quase completa de referências às populações ibéricas. Assim, o presente estudo tem como objectivo efectuar uma revisão bibliográfica dos trabalhos que mencionem o texugo como hospedeiro de ectoparasitas ou reservatório de outros agentes infecciosos, nomeadamente, pulgas (ex. Pulex), carraças (ex. Ixodes), piolhos (ex. Trichodectes),helmintos (ex. Mastophorus), bactérias (ex. Mycobacterium) e protozoários (ex. Toxoplama).

Ocorrência de infecção natural de Fasciola hepatica Linnaeus, 1758 em Lymnaea columella Say, 1817 no Vale do Paraíba, SP, Brasil

Foram registradas em Piquete, no vale do rio Paraíba do Sul (SP), Brasil, taxas de 1,22% e 0,14% de infecção natural em Lymnaea columella, por Fasciola hepatica. Em um único exemplar de Lymnaea columella dentre os 1.052 examinados, foram observadas rédias com xifidiocercárias, rédias com cercárias de Fasciola hepatica e metacercárias de Echinostomatidae.