946 resultados para CYP21 deficiency
Resumo:
Purpose: The purpose of this study was to examine the influence of three different high-intensity interval training (HIT) regimens on endurance performance in highly trained endurance athletes. Methods: Before, and after 2 and 4 wk of training, 38 cyclists and triathletes (mean +/- SD; age = 25 +/- 6 yr; mass = 75 +/- 7 kg; (V)over dot O-2peak = 64.5 +/- 5.2 mL.kg(-1).min(-1)) performed: 1) a progressive cycle test to measure peak oxygen consumption ((V)over dotO(2peak)) and peak aerobic power output (PPO), 2) a time to exhaustion test (T-max) at their (V)over dotO(2peak) power output (P-max), as well as 3) a 40-kin time-trial (TT40). Subjects were matched and assigned to one of four training groups (G(1), N = 8, 8 X 60% T-max P-max, 1:2 work:recovery ratio; G(2), N = 9, 8 X 60% T-max at P-max, recovery at 65% HRmax; G(3), N = 10, 12 X 30 s at 175% PPO, 4.5-min recovery; G(CON), N = 11). In addition to G(1) G(2), and G(3) performing HIT twice per week, all athletes maintained their regular low-intensity training throughout the experimental period. Results: All HIT groups improved TT40 performance (+4.4 to +5.8%) and PPO (+3.0 to +6.2%) significantly more than G(CON) (-0.9 to + 1.1 %; P < 0.05). Furthermore, G(1) (+5.4%) and G(2) (+8.1%) improved their (V)over dot O-2peak significantly more than G(CON) (+ 1.0%; P < 0.05). Conclusion: The present study has shown that when HIT incorporates P-max as the interval intensity and 60% of T-max as the interval duration, already highly trained cyclists can significantly improve their 40-km time trial performance. Moreover, the present data confirm prior research, in that repeated supramaximal HIT can significantly improve 40-km time trial performance.
Resumo:
The aims of the study were to compare the pathogenesis of Candida albicans infection in various organs and anatomical regions of C5-deficient (DBA/2) and C5-sufficient (BALB/c) mice, and to evaluate the importance of complement C5 and T lymphocytes as factors that determine host susceptibility or resistance. The kidneys of DBA/2 mice showed higher colonisation and more severe tissue damage than those of BALB/c, but infection at other sites, including oral and vaginal mucosa, was generally similar in the two strains. Passive transfer of C5-sufficient serum into DBA/2 mice decreased the fungal burden in the kidney, and prolonged survival of the reconstituted animals. Depletion of CD4(+) and/or CD8(+) cells did not exacerbate either systemic or mucosal infection when compared to controls, and passive transfer of splenocytes from infected donors caused only a small and transient reduction in numbers of yeasts recovered from the kidney of sub-lethally infected recipients. It is concluded that the acute susceptibility of the kidneys in this mouse strain is due to C5 deficiency expressed on a susceptible genetic background. T lymphocytes, however, appear to have minimal influence on recovery from systemic infection with this isolate of C. albicans. (C) 2003 Elsevier Science Ltd. All rights reserved.
Resumo:
The recent description of the respiratory pathogen human metapneumovirus (hMPV) has highlighted a deficiency in current diagnostic techniques for viral agents associated with acute lower respiratory tract infections. We describe two novel approaches to the detection of viral RNA by use of reverse transcriptase PCR (RT-PCR). The PCR products were identified after capture onto a solid-phase medium by hybridization with a sequence-specific, biotinylated oligonucleotide probe. The assay was applied to the screening of 329 nasopharyngeal aspirates sampled from patients suffering from respiratory tract disease. These samples were negative for other common microbial causes of respiratory tract disease. We were able to detect hMPV sequences in 32 (9.7%) samples collected from Australian patients during 2001. To further reduce result turnaround times we designed a fluorogenic TaqMan oligoprobe and combined it with the existing primers for use on the LightCycler platform. The real-time RT-PCR proved to be highly reproducible and detected hMPV in an additional 6 out of 62 samples (9.6%) tested during the comparison of the two diagnostic approaches. We found the real-time RT-PCR to be the test of choice for future investigation of samples for hMPV due to its speed, reproducibility, specificity, and sensitivity.
Resumo:
Krabbe's disease (galactocerebrosidase deficiency) rarely presents in adults, usually with predominantly upper motor neurone clinical features. We report a case in whom the clinical features were similar to motor neurone disease. Nerve conduction studies and neuroimaging were important in leading to the correct diagnosis. Differences in adult-onset presentations are described. (C) 2003 Elsevier Science Ltd. All rights reserved.
Resumo:
Previous studies have shown that a deficiency in DNA damage repair is associated with increased cancer risk, and exposure to UV radiation is a major risk factor for the development of malignant melanoma. High density of common nevi (moles) is a major risk factor for cutaneous melanoma. A nevus may result from a mutation in a single UV-exposed melanocyte which failed to repair DNA damage in one or more critical genes. XRCC3 and XRCC5 may have an effect on nevus count through their function as components of DNA repair processes that may be involved directly or indirectly in the repair of DNA damage due to UV radiation. This study aims to test the hypothesis that the frequency of flat or raised moles is associated with polymorphism at or near these DNA repair genes, and that certain alleles are associated with less efficient DNA repair, and greater nevus density. Twins were recruited from schools in south eastern Queensland and were examined close to their 12th birthday. Nurses examined each individual and counted all moles on the entire body surface. A 10cM genome scan of 274 families (642 individuals) was performed and microsatellite polymorphisms in XRCC3 and adjacent to XRCC5 were also typed. Linkage and association of nevus count to these loci were tested simultaneously using a structural-equation modeling approach implemented in MX. There is weak evidence for linkage of XRCC5 to a QTL influencing raised mole count, and also weak association. There is also weak evidence for association between flat mole count and XRCC3. No tests were significant after correction for testing multiple alleles, nor were any of the tests for total association significant. If variation in XRCC3 or XRCC5 influences UV sensitivity, and indirectly affects nevus density, then the effects are small.
Resumo:
Mutations in the E1alpha subunit of the pyruvate dehydrogenase multienzyme complex may result in congenital lactic acidosis, but little is known about the consequences of these mutations at the enzymatic level. Here we characterize two mutants (F205L and T231A) of human pyruvate dehydrogenase in vitro, using the enzyme expressed in Escherichia coli. Wild-type and mutant proteins were purified successfully and their kinetic parameters were measured. F205L shows impaired binding of the thiamin diphosphate cofactor, which may explain why patients carrying this mutation respond to high-dose vitamin B-1 therapy. T231A has very low activity and a greatly elevated K-m for pyruvate, and this combination of effects would be expected to result in severe lactic acidosis. The results lead to a better understanding of the consequences of these mutations on the functional and structural properties of the enzyme, which may lead to improved therapies for patients carrying these mutations.
Resumo:
Growth hormone (GH) profoundly affects the developing and adult myocardium. Adult patients with GH deficiency (GHD) and GH excess (acromegaly) provide important models in which to understand the effects of GH in adult cardiac physiology. An increasing body of clinical and experimental evidence illustrates the specific physiological abnormalities that are likely associated with the excess cardiovascular mortality observed in both acromegaly and GHD. Because human GH replacement is now available to treat adults with GHD, new questions emerge about the long-term cardiovascular effects of replacement therapy. In multiple trials, GH therapy for congestive heart failure has been proved ineffective in the absence of preexisting GHD. Case reports suggest that, in the setting of GHD, GH therapy can exert a potent beneficial effect on congestive heart failure. Long-term studies addressing cardiovascular morbidity and mortality are needed to assess the role of GH therapy for GHD.
Nitrification of high strength ammonia wastewtaer treatment - process selection is the major factor.
Resumo:
Biological nitrogen removal via the nitrite pathway in wastewater treatment is very important in Saving the cost of aeration and as an electron donor for denitrification. Wastewater nitrification and nitrite accumulation were carried out in a biofilm airlift reactor with autotrophic nitrifying biofilm. The biofilm reactor showed almost complete nitrification and most of the oxidized ammonium was present as nitrite at the ammonium load of 1.5 to 3.5 kg N/m3.d. Nitrite accumulation was stably achieved by the selective inhibition of nitrite oxidizers with free ammonia and dissolved oxygen limitation. Stable 100% conversion to nitrite could also be achieved even under the absence of free ammonia inhibition on nitrite oxidizers. Batch ammonium oxidation and nitrite oxidation with nitrite accumulating nitrifying biofilm showed that nitrite Oxidation was completely inhibited when free ammonia is higher than 0.2 mg N/L. However, nitrite oxidation activity was recovered as soon as the free ammonia concentration was below the threshold level when dissolved oxygen concentration was not the limiting factor. Fluorescence in situ hybridization analysis of cryosectioned nitrite accumulating nitrifying biofilm showed that the β-subclass of Proteobacteria, where ammonia oxidizers belong, was distributed outside the biofilm whereas the α-subclass of Proteobacteria, where nitrite oxidizers belong, was found mainly in the inner part of the biofilm. It is likely that dissolved oxygen deficiency or limitation in the inner part of the nitrifying biofilm, where nitrite oxidizers exist, is responsible for the complete shut down of the nitrite oxidizers activity under the absence of free ammonia inhibition.
Resumo:
Abnormalities of calcium and vitamin D metabolism in cystic fibrosis (CF) are well documented. We tested the hypothesis that alterations in calcium metabolism are related to vitamin D deficiency, and that bone resorption is increased relative to accretion in patients with CF. Calcitropic hormones, electrolytes, osteocalcin (OC) and bone alkaline phosphatase (BAP), (markers of bone mineralisation), urinary deoxypyridinoline [total (t) Dpd, a marker of bone resorption] and lumbar spine bone mineral density (LS BMD), expressed as a z-score, were measured in 149 (81 M) CF and 141 (61 M) control children aged 5.3-10.99 years, adolescents aged 11-17.99 years and adults aged 18-55.9 years. Data were analysed by multiple regression to adjust for age. In patients, FEV1% predicted and CRP (as disease severity markers), genotype and pancreatic status (PS) were recorded. The distribution of PTH differed between groups (P
Resumo:
Fazer prevenção em Saúde Pública implica em conhecimento sistematizado para a proposição de programas e sua avaliação. Quanto à prevenção de Deficiência Mental, que atinge cerca de 10% da população, pouco se conhece no país. Adotando uma metodologia para levantamento de ações preventivas de DM em hospitais e unidades de saúde, junto a gestantes e recém-nascidos, foi possível descrever e analisar a atuação da rede pública de saúde da Grande Vitória/ES, indicando os níveis de prevenção mais atendidos. Foram levantadas as ações de prevenção (AP) de cinco hospitais públicos de grande porte, nove (31%) unidades de saúde e seis secretarias de saúde, entre 1996-97. Os dados de 25 entrevistas mostram que esses locais realizavam 51,5% das 433 AP possíveis (57,4% da prevenção primária e 45,5% da secundária). Particularizando a atuação de cada município e local pesquisado, os dados fornecem subsídios para análises e possíveis mudanças nos indicadores de saúde materno-infantil.
Resumo:
Esse estudo objetivou investigar, em regime de casa de vegetação, o desempenho fisiológico de duas cultivares jovens e enxertadas de seringueira (Hevea brasiliensis), submetidas à deficiência hídrica e posterior recuperação. Os parâmetros analisados foram o potêncial hídrico foliar (ψw), taxa de sobrevivência e crescimento após reidratação e a fluorescência transiente da clorofila a. Trinta dias após a aclimatação, o déficit hídrico foi iniciado pela supressão total da água até o potencial hídrico (ψw) atingir valores críticos (38 dias), seguido por 30 dias de reidratação. Os dois genótipos (RRIM600 e FX3864) apresentaram um comportamentos semelhantes de redução do ψw com o avanço da supressão hídrica. Entretanto, o genótipo FX3864 mostrou-se mais susceptível ao déficit hídrico comprovado por valores que demonstram deficiência no transporte de elétrons no etapa fotoquímica da fotossíntese e por uma menor taxa de sobrevivência após desidratação e menor crescimento e desenvolvimento após a reidratação. RRIM600 apresentou uma maior tolerância à imposição da supressão hídrica, confirmada pelos valores da maioria dos parâmetros analisados e pelo menor tempo necessário para sua recuperação.
Resumo:
Nutritional surveys (food consumption, clinical and biochemichal) were conducted in a small institution for homeless children. Results showed that only 30% of the children presented adequate calorie intake. Most of the children presented adequate protein intake, but almost half consumed less than 2/3 of the calcium RDA considered necessary. Food handling, processing, and distribution also proved inadequate and wastage, high. Skinfold measurement showed up one case of obesity. Furthermore, most of the children presented clinical signs of vitamin A deficiency, mostly skin lesions; while about half presented clinical signs of riboflavin deficiency. Biochemical data showed that 63.6% had deficient plasma levels of vitamin A, none showed abnormal results for riboflavin excretion, four showed packed blood cell volume below normal, and all had normal hemoglobin levels. Stool examinations revealed a high rate of pathogenic protozoa (Hymenolepis nana), in fact, one of the highest in Brazilian literature.
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An investigation into support for restrictions on people testing seropositive for HIV is reported on. Data were collected during telephone interviews with two-hundred adults aged eighteen to sixty-five in the Chicago metropolitan area. Using the analytic technique of LISREL, six models which attempt to explain support for restrictions were tested. It was found that the model best supported by the data indicates that two groups contribute to support for restrictions on HIV carriers - one due to intolerance of homosexuality and one to mistrust of public health officials regarding their control and management of the AIDS epidemic. The relevance of these findings for public health policy makers is discussed.
Resumo:
Genomic damage is probably the most important fundamental cause of development and degenerative disease. It is also well established that genomic damage is produced by environmental exposure to genotoxins, medical procedures (e.g. radiation and chemicals), micronutrient deficiency (e.g. folate), lifestyle factors (e.g. alcohol, smoking, drugs and stress), and genetic factors such as inherited defects in DNA metabolism and/or repair. Tobacco smoke has been associated to a higher risk of development of cancer, especially in the oral cavity, larynx and lungs, as these are places of direct contact with many carcinogenic tobacco’s compounds. Alcohol is definitely a recognized agent that influence cells in a genotoxic form, been citied as a strong agent with potential in the development of carcinogenic lesions. Epidemiological evidence points to a strong synergistic effect between cigarette smoking and alcohol consumption in the induction of cancers in the oral cavity. Approximately 90% of human cancers originate from epithelial cells. Therefore, it could be argued that oral epithelial cells represent a preferred target site for early genotoxic events induced by carcinogenic agents entering the body via inhalation and ingestion. The MN assay in buccal cells was also used to study cancerous and precancerous lesions and to monitor the effects of a number of chemopreventive agents.
Resumo:
The deficiency of essential micronutrients and excess of toxic metals in cereals, an important food items for human nutrition, can cause public health risk. Therefore, before their consumption and adoption of soil supplementation, concentrations of essential micronutrients and metals in cereals should be monitored. This study collected soil and two varieties of wheat samples–Triticum aestivum L. (Jordão/bread wheat), and Triticum durum L. (Marialva/durum wheat) from Elvas area, Portugal and analyzed concentrations of As, Cr, Co, Fe, K, Na, Rb and Zn using Instrumental Neutron Activation Analysis (INAA) to focus on the risk of adverse public health issues. The low variability and moderate concentrations of metals in soils indicated a lower significant effect of environmental input on metal concentrations in agricultural soils. The Cr and Fe concentrations in soils that ranged from 93–117 and 26,400–31,300 mg/kg, respectively, were relatively high, but Zn concentration was very low (below detection limit <22 mg/kg) indicating that soils should be supplemented with Zn during cultivation. The concentrations of metals in roots and straw of both varieties of wheat decreased in the order of K>Fe>Na>Zn>Cr>Rb>As>Co. Concentrations of As, Co and Cr in root, straw and spike of both varieties were higher than the permissible limits with exception of a few samples. The concentrations of Zn in root, straw and spike were relatively low (4–30 mg/kg) indicating the deficiency of an essential micronutrient Zn in wheat cultivated in Portugal. The elemental transfer from soil to plant decreases with increasing growth of the plant. The concentrations of various metals in different parts of wheat followed the order: Root>Straw>Spike. A few root, straw and spike samples showed enrichment of metals, but the majority of the samples showed no enrichment. Potassium is enriched in all samples of root, straw and spike for both varieties of wheat. Relatively to the seed used for cultivation, Jordão presented higher transfer coefficients than Marialva, in particular for Co, Fe, and Na. The Jordão and Marialva cultivars accumulated not statistically significant different concentrations of different metals. The advantages of using INAA are the multielementality, low detection limits and use of solid samples (no need of digestion).