987 resultados para Ataxia-telangiectasia Atm


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Novas espécies são descritas: em Acanthoderini - Psapharochrus inaequalis sp. nov. e Psapharochrus irumus sp. nov. de Santa Cruz, Bolívia; Psapharochrus rondonensis sp. nov e Punctozotroctes tuberculatus sp. nov. de Rondônia, Brasil; Meridiotroctes truncata sp. nov. da Bahia, Brasil; em Pteropliini - Rhaphiptera apeara sp. nov. da Bahia (Brasil) and Ataxia parva sp. nov. da Paraíba (Brasil); em Onciderini - Oncideres disiunctus sp. nov. do Amazonas (Brasil).

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PURPOSE: The authors analyzed the 30-day and 6-month outcomes of 1,126 consecutive patients who underwent coronary stent implantation in 1996 and 1997. METHODS: The 30-day results and 6-month angiographic follow-up were analyzed in patients treated with coronary stents in 1996 and 1997. All patients underwent coronary stenting with high-pressure implantation (>12 atm) and antiplatelet drug regimen (aspirin plus ticlopidine). RESULTS: During the study period, 1,390 coronary stents were implanted in 1,200 vessels of 1,126 patients; 477 patients were treated in the year 1996 and 649 in 1997. The number of percutaneous procedures performed using stents increased significantly in 1997 compared to 1996 (64 % vs 48%, p=0.0001). The 30-day results were similar in both years; the success and stent thrombosis rates were equal (97% and 0.8%, respectively). The occurrence of new Q wave MI (1.3% vs 1.1%, 1996 vs 1997, p=NS), emergency coronary bypass surgery (1% vs 0.6%, 1996 vs 1997, p=NS) and 30-day death rates (0.2% vs 0.5%, 1996 vs 1997, p=NS) were similar. The 6-month restenosis rate was 25% in 1996 and 27% in 1997 (p= NS); the target vessel revascularization rate was 15% in 1996 and 16% in 1997 (p = NS). CONCLUSIONS: Intracoronary stenting showed a high success rate and a low incidence of 30-day occurrence of new major coronary events in both periods, despite the greater angiographic complexity of the patients treated with in 1997. These adverse variables did not have a negative influence at the 6-month clinical and angiographic follow-up, with similar rates of restenosis and ischemia-driven target lesion revascularization rates.

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Tese de Doutoramento em Ciências da Saúde

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OBJECTIVE:To verify the influence of moderate- or high-pressure balloon inflation during primary coronary stent implantation for acute myocardial infarction. METHODS: After successful coronary stent implantation, 82 patients were divided into 2 groups according to the last balloon inflation pressure: group 1 (³12 to <16 atm) and group 2 (³16 to 20 atm), each with 41 cases. All patients underwent late coronary angiography. RESULTS: In group 1, the mean stent deployment pressure was 13.58±0.92 atm, and in the group 2 it was 18.15±1.66 atm. Stents implanted with moderate pressures (³12 to <16 atm) had a significantly smaller postprocedural minimal lumen diameter, compared to with those with higher pressure, with lesser acute gain (2.7± 0.4 mm vs 2.9±04 mm; p=0.004), but the late lumen loss (0,9±0,8 mm vs 0,9±0,6 mm) and the restenosis (22% vs. 17.1%) and target-vessel revascularization rates (9.8% vs 7.3%) were similar between the groups. CONCLUSION: During AMI stenting, the use of high pressures (³16 atm) did not cause a measurable improvement in late outcome, either in the late loss, its index, and the net gain, or in clinical and angiographic restenosis rates.

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Reconhecer com precisão indivíduos com maior risco imediato de morte súbita cardíaca (MSC) ainda é uma questão em aberto. A natureza fortuita dos eventos cardiovasculares agudos não parece se adequar ao conhecido modelo de indução de taquicardia/fibrilação ventricular por um gatilho em sincronia a um substrato arritmogênico estático. Quanto ao mecanismo da MSC, uma instabilidade elétrica dinâmica explicaria melhor a raridade da associação simultânea de um gatilho certo a um substrato cardíaco apropriado. Diversos estudos tentaram medir essa instabilidade elétrica cardíaca (ou um equivalente válido) em uma sequência de batimentos cardíacos no ECG. Dentre os mecanismos possíveis podemos citar o prolongamento do QT, dispersão do QT, potenciais tardios, alternância de onda T ou T-wave alternans (TWA), e turbulência da frequência cardíaca. Este artigo se atém em particular ao papel da TWA no panorama atual da estratificação de risco cardíaco. Os achados sobre TWA ainda são heterogêneos, variando de um desempenho prognóstico muito bom até um quase nulo, dependendo da população clínica observada e protocolo clínico usado. Para preencher as atuais lacunas no conhecimento sobre TWA, profissionais médicos e pesquisadores devem explorar melhor as características técnicas das diversas tecnologias disponíveis para a avaliação de TWA e atentar ao fato de que os valores de TWA respondem a diversos outros fatores, além de medicamentos. Informações sobre mecanismos celulares e subcelulares da TWA estão fora do escopo deste artigo, mas são referenciados alguns dos principais trabalhos sobre este tópico, com o intuito de auxiliar no entendimento dos conceitos e fatos cobertos neste artigo.

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O presente trabalho teve por finalidade, verificar a importância das informações obtidas pelo estudo do Teor Relativo de Água dos tecidos das folhas e do Índice Refratométrico do suco celular para o controle da água de irrigação na cultura do tomateiro. Foi instalado um ensaio de verão e outro de inverno, constando cada um de tres tratamentos e sete repetições. A irrigação foi executada pelo método de sulcos de infiltração e as umidades do solo determinadas gravimetricamente. Os respectivos potenciais da água do solo foram calculados com o auxílio da placa de pressão e membrana de pressão. Os tratamentos se referiram a três níveis de potencial da água do solo a .7, 3.0 e 15.0 atm. Os dados obtidos foram utilizados para correlacionar o TRA e o IR com o potencial da água do solo. A análise e resultados obtidos para as condições estudadas, permitiram as conclusões principais: a) a manutenção do potencial da água do solo a níveis elevados proporcionou melhores produções. b) os resultados do TRA correlacionados com os respectivos potenciais da água do solo, proporcionaram um dado útil para o controle da água de irrigação. c) os resultados do IR correlacionados com os respectivos potenciais da água do solo, não ofereceram estimativas consistentes da água de irrigação.

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O presente trabalho buscou estimar os eventuais efeitos de pré-condicionamento fisiológico promovidos, durante o início da germinação das sementes de milho, por ambientes variáveis quanto à disponibilidade de água (0 a -12 atm). Para tanto, os períodos de deficiência eram sucedidos por prazos fixos de 5 dias sem limitações hídricas e comparados com uma testemunha que permaneceu, igualmente, sem restrições quanto à disponibilidade de água durante 5 dias. Os resultados encontrados indicaram que a técnica de pré-condicionamento hídrico das sementes pode, se devidamente adaptada em seus detalhes, propiciar algumas vantagens no desenvolvimento das plântulas delas oriundas. Adicionalmente, o tratamento químico fungicida das sementes, submetidas a pré-condicionamento hídrico, pode não trazer os benefícios esperados às plântulas; há casos isolados, ligados a produção de anormalidades nas estruturas embrionárias, em que o seu efeito é prejudicial.

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Novas espécies em Cerambycinae são descritas do Brasil, Piauí: Compsibidion paragraphycum sp. nov. (Neoibidionini). Em Lamiinae, - do Piauí: Trichohippopsis vestita sp. nov. (Agapanthiini); Oncioderes piauiensis sp. nov. (Onciderini); Cotycicuiara caracolensis sp. nov. (Desmiphorini); Xenofrea peculiaris sp. nov. (Xenofreini); Mariliana bellula sp. nov. (Hemilophini); - da Paraíba: Ataxia arenaria sp. nov. (Pteropliini); Dadoychus atrus sp. nov. (Hemilophini). Novos registros em Cerambycinae para o Piauí: Methia longipennis Martins, 1997 (Methiini); Tropidion sipolisi (Gounelle, 1909), Compsibidion decoratum (Gounelle, 1909), Cycnidolon obliquum Martins, 1969 (Neoibidionini); - para o Ceará: Paranyssicus conspicillatus (Erichson, 1847) (Elaphidiini); Aglaoschema collorata (Napp, 1993) (Compsocerini); - para a Bahia: Stizocera phtisica Gounelle, 1909 (Elaphidiini). Novos registros em Lamiinae para o Piauí: Dolichosybra tubericollis Breuning, 1942 (Apomecynini); Ceiupaba lineata Martins & Galileo, 1998, Cicuiara striata (Bates, 1866), Desmiphora pallida Bates, 1874 (Desmiphorini); Nesozineus apharus Galileo & Martins, 1996, Psapharochrus nigrovittatus (Zajciw, 1969) (Acanthoderini); - para o Ceará: Trichohippopsis rufula Breuning, 1958 (Agapanthiini); Ataxia parva Galileo & Martins, 2011 (Pteropliini); Desmiphora cirrosa Erichson, 1847 (Desmiphorini); - para a Paraíba: Eudesmus rubefactus Bates, 1865 (Onciderini); Laraesima ochreoapicalis Breuning, 1973 (Compsosomatini); Psapharochrus itatiayensis (Melzer, 1935) (Acanthoderini); - para a Bahia: Brasiliosoma tibialis (Breuning, 1948) (Compsosomatini); Adesmus hemispilus (Germar, 1821) (Hemilophini).

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Abstract: The use of an enriched CO2 atmosphere in tree nurseries has been envisaged as a promising technique to increase productivity and to obtain seedlings with a higher root/shoot ratio, an essential trait to respond to water stress in Mediterranean-type ecosystems. In that framework, we have analyzed the effects of three levels of atmospheric CO2 concentration (350, 500 and 700 ppm) on the germination rate, growth and morphology of seedlings of two Mediterranean oaks used in reforestation programs: the evergreen Quercus ilex L. and the deciduous Quercus cerrioides Wilk. et Costa. CO2 enrichment increased the germination rate of Q. cerrioides (from 70±7 to 81±3 %) while it decreased that of Q. ilex (from 71±10 to 41±12 %). Seedlings of both species increased approximately 60% their total biomass in response to CO2 enrichment but at two different CO2 concentrations: 500 ppm for Q. cerrioides and 700 ppm for Q. ilex. This increase in seedlings biomass was entirely due to an augmentation of root biomass. Considering germination and biomass partitioning, an enriched CO2 atmosphere might not be appropriate for growing Mediterranean evergreen oaks, such as Q. ilex, since it reduces acorn germination and the only gains in root biomass occur at a high concentration (700 ppm). On the other hand, a moderate CO2 enrichment (500 ppm) appears as a promising nursery technique to stimulate the germination, growth and root/shoot ratio of deciduous oaks, such as Q. cerrioides. Resumen: El uso de una atmósfera enriquecida en CO2 durante la fase de vivero puede contribuir a aumentar la producción viverística, a la vez que ayudar a conseguir plántulas con una mayor relación biomasa subterránea/biomasa aérea, más adecuadas para hacer frente al severo estrés hídrico que generalmente limita el éxito de las repoblaciones en el clima Mediterráneo. En este estudio hemos analizado el efecto de tres niveles de abonado carbónico atmosférico (350, 500 y 750 ppm) en la germinación y morfología de plántulas de encina (Quercus ilex) y roble cerrioide (Quercus cerrioides). Una atmósfera enriquecida en CO2 incrementó la germinación de Q. cerrioides (de 70±7 a 81±3 %) mientras que disminuyó la de Q. ilex (de 71±10 a 41±12 %). Las plántulas de ambas especies incrementaron aproximadamente un 60% su biomasa en respuesta a una mayor concentración de CO2, aunque esta respuesta se produjo a diferentes dosis: 500 ppm en Q. cerrioides y 700 ppm en Q. ilex. El aumento en la biomasa total de las plántulas se debió enteramente a un mayor desarrollo de su sistema radical, Considerando tanto la germinación como los efectos sobre la relación biomasa subterránea/biomasa aérea, una atmósfera enriquecida en CO2 no parece ser un tratamiento adecuado para la producción en vivero de plántulas de Q.ilex, puesto que diminuye su germinación y solo aumenta su sistema radicular a dosis muy elevadas (700 ppm). Por el contrario, un aumento moderado en la concentración de CO2 (500 ppm) aparece como una técnica interesante para estimular el crecimiento y obtener plántulas de Q. cerrioides con un sistema radical más desarrollado.

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Mice infected with 30 cercariae of Schistosoma mansoni developed portal and septal fibrosis due to the massive and concentrated deposition of eggs in the periportal areas which occurred following the 16th week after infection. The lesion resembled pipe-stem fibrosis seen in human hepatosplenic schistosomiasis in the following characters: portal fibrosis interconnecting portal spaces as well as portal spaces and central canals; portal inflammation; periovular granulomas; vascular obstruction and telangiectasia. The liver parenchyma maintained its normal architecture. Vascular injection techniques with Indian ink and vinylite revealed that the portal system developed numerous dilated collateral venules coming from the large and medium-sized portal branches, about 10 weeks after schistosome infection. The lodging of schistosome eggs into these collaterals resulted in granulomatous inflammation and fibrosis along all the portal tracts, thus forming the pipe-stem lesion. Although not readily demonstrable grossly, the pipe-stem fibrosis of murine schistosomiasis has many similarities with the human lesion and can be considered to have the same basic pathogenesis.

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Estudi elaborat a partir d’una estada a la School of Life Sciences de la University of Dundee, Gran Bretanya, entre gener i març del 2007.L'estrès osmòtic causa rà pidament l'activació de la quinasa WNK1, que fosforila i activa a continuació les quinases SPAK i OSR1, que alhora regulen canals i transportadors d’ions preexistents a la membrana cel•lular. El factor de transcripció NFAT5 és el principal regulador de la resposta cel•lular transcripcional secundà ria a hipertonicitat i s’ha descrit que les quinases p38, Fyn, PKA, ERK/MEK i ATM estan involucrades en la seva regulació post-traduccional. No obstant, com que la funció d’aquestes quinases no explica totalment els mecanismes d'activació de NFAT5, s’ha estudiat si l’activitat transcripcional de NFAT5 pot estar regulada per WNK1, SPAK o OSR1. Així doncs, es va observar que l’activitat d’un reporter dependent de NFAT5 no es veu afectada per la presència de cap de les quinases anteriors, en la seva forma wild-type o dominant negatiu. D’altra banda, es va estudiar quin domini de WNK1 és necessari per a que pugui respondre a hipertonicitat i quines quinases poden estar involucrades en la fosforilació de la serina 382 de WNK1. En conclusió, les dades obtingudes apunten que l’activació de WNK1 en resposta a estrès osmòtic requereix la seva fosforilació en la serina 382 per quinases upstream com PAK2 o RSK i que també és necessari un dels seus dominis coiled-coil, almenys els aminoà cids 558 i 561. Aquests processos, però, semblen ser independents de l’activació de NFAT5 en resposta a hipertonicitat.   

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The combination of skin induration with clinical features such as dyspnea, facial telangiectasia, digital infarctions and/or dysphagia supports the diagnosis of systemic sclerosis. The oesophageal dysmotility is associated with symptoms which may delay the diagnosis of gastro-oesophageal cancer. Herein we report a case of long standing systemic sclerosis with heartburn and dysphagia symptoms which were monitored closely. Unfortunately, these symptoms delayed the diagnosis of gastric adenocarcinoma. This case prompted us to review the evidence of the association of cancer and systemic sclerosis and if any oncologic evaluation is required during the follow-up of patients affected with systemic sclerosis.

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OBJECTIVE: To identify the genetic causes underlying autosomal recessive retinitis pigmentosa (arRP) and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: Three hundred forty-seven unrelated families affected by arRP and 33 unrelated families affected by retinitis pigmentosa (RP) plus noncongenital and progressive hearing loss, ataxia, or both, respectively. METHODS: A whole exome sequencing (WES) analysis was performed in 2 families segregating arRP. A mutational screening was performed in 378 additional unrelated families for the exon-intron boundaries of the ABHD12 gene. To establish a genotype-phenotype correlation, individuals who were homozygous or compound heterozygotes of mutations in ABHD12 underwent exhaustive clinical examinations by ophthalmologists, neurologists, and otologists. MAIN OUTCOME MEASURES: DNA sequence variants, best-corrected visual acuity, visual field assessments, electroretinogram responses, magnetic resonance imaging, and audiography. RESULTS: After a WES analysis, we identified 4 new mutations (p.Arg107Glufs*8, p.Trp159*, p.Arg186Pro, and p.Thr202Ile) in ABHD12 in 2 families (RP-1292 and W08-1833) previously diagnosed with nonsyndromic arRP, which cosegregated with the disease among the family members. Another homozygous mutation (p.His372Gln) was detected in 1 affected individual (RP-1487) from a cohort of 378 unrelated arRP and syndromic RP patients. After exhaustive clinical examinations by neurologists and otologists, the 4 affected members of the RP-1292 had no polyneuropathy or ataxia, and the sensorineural hearing loss and cataract were attributed to age or the normal course of the RP, whereas the affected members of the families W08-1833 and RP-1487 showed clearly symptoms associated with polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract (PHARC) syndrome. CONCLUSIONS: Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12. This is the first time missense mutations have been described for this gene. Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.

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In Rendu-Osler disease, haemorrhages due to gastrointestinal vascular malformations are common. Surgical and endoscopic treatments for haemorrhage due to gastrointestinal vascular malformations are compromised when lesions are diffuse, escape identification or are inaccessible to treatment. Hormonal treatment with oestrogen and progestagens is still controversial based on contradictory results from two randomised clinical trials. Although somatostatin and its long-acting analogue, octreotide, have been reported to be beneficial in preventing rebleeding, there is no consensus on this type of treatment. This case report shows how the combination of ethinyloestradiol and norethisterone markedly reduced the need for blood transfusions with few side effects in one patient; in comparison, octreotide seems less effective but this could be related to a worsening of the disease.

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The impact of curative radiotherapy depends mainly on the total dose delivered homogenously in the targeted volume. Nevertheless, the dose delivered to the surrounding healthy tissues may reduce the therapeutic ratio of many radiation treatments. Two different side effects (acute and late) can occur during and after radiotherapy. Of particular interest are the radiation-induced sequelae due to their irreversibility and the potential impact on daily quality of life. In a same population treated in one centre with the same technique, it appears that individual radiosensitivity clearly exists. In the hypothesis that genetic is involved in this area of research, lymphocytes seem to be the tissue of choice due to easy accessibility. Recently, low percentage of CD4 and CD8 lymphocyte apoptosis were shown to be correlated with high grade of sequelae. In addition, recent data suggest that patients with severe radiation-induced late side effects possess four or more single nucleotide polymorphisms (SNP) in candidate genes (ATM, SOD2, TGFB1, XRCC1, and XRCC3) and low radiation-induced CD8 lymphocyte apoptosis in vitro. On-going studies are being analyzing the entire genome using a Genome-wide association study (GWAS) analysis.