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1.
Sci Total Environ ; 870: 161867, 2023 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-36716885

RESUMO

Microplastics (MPs) and nanoplastics (NPs) from mulch films and other plastic materials employed in vegetable and small fruit production pose a major threat to agricultural ecosystems. For conducting controlled studies on MPs' and NPs' (MNPs') ecotoxicity to soil organisms and plants and fate and transport in soil, surrogate MNPs are required that mimic MNPs that form in agricultural fields. We have developed a procedure to prepare MPs from plastic films or pellets using mechanical milling and sieving, and conversion of the resultant MPs into NPs through wet grinding, both steps of which mimic the degradation and fragmentation of plastics in nature. The major goal of this study was to determine if cryogenic exposure of two biodegradable mulch films effectively mimics the embrittlement caused by environmental weathering in terms of the dimensional, thermal, chemical, and biodegradability properties of the formed MNPs. We found differences in size, surface charge, thermal and chemical properties, and biodegradability in soil between MNPs prepared from cryogenically treated vs. environmentally weathered films, related to the photochemical reactions occurring in the environment that were not mimicked by cryogenic treatment, such as depolymerization and cross-link formation. We also investigated the size reduction process for NPs and found that the size distribution was bimodal, with populations centered at 50 nm and 150-300 nm, and as the size reduction process progressed, the former subpopulation's proportion increased. The biodegradability of MPs in soil was greater than for NPs, a counter-intuitive trend since greater surface area exposure for NPs would increase biodegradability. The result isassociated with differences in surface and chemical properties and to minor components that are readily leached out during the formation of NPs. In summary, the use of weathered plastics as feedstock would likely produce MNPs that are more realistic than cryogenically-treated unweathered films for use in experimental studies.

2.
Rev Med Interne ; 42(8): 541-557, 2021 Aug.
Artigo em Francês | MEDLINE | ID: mdl-33455836

RESUMO

Mitochondrial diseases, characterized by a respiratory chain deficiency, are considered as rare genetic diseases but are the most frequent among inherited metabolic disorders. The complexity of their diagnosis is due to the dual control by the mitochondrial (mtDNA) and the nuclear DNA (nDNA), and to the heterogeneous clinical presentations; illegitimate association of symptoms should prompt the clinician to evoke a mitochondrial disorder. The goals of this review are to provide clinicians a better understanding of mitochondrial diseases in adults. After a brief overview on the mitochondrial origin and functions, especially their role in the energy metabolism, we will describe the genetic bases for mitochondrial diseases, then we will describe the various clinical presentations with the different affected tissues as well as the main symptoms encountered. Even if the new sequencing approaches have profoundly changed the diagnostic process, the brain imaging, the biological, the biochemical, and the histological explorations are still important highlighting the need for a multidisciplinary approach. While for most of the patients with a mitochondrial disease, only supportive and symptomatic therapies are available, recent advances in the understanding of the pathophysiological mechanisms have been made and new therapies are being developed and are evaluated in human clinical trials.


Assuntos
Doenças Mitocondriais , Adulto , Humanos , Mitocôndrias , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/epidemiologia , Doenças Mitocondriais/genética
3.
Genet Test Mol Biomarkers ; 24(6): 352-358, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32423256

RESUMO

Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.42%); the specificity was 0.975 (97.56%); the positive predictive value was 0.909 (90.91%) and the negative predictive value was 0.987 (98.77%). Conclusions: Gene copy number analyses of the VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs.


Assuntos
Triagem Neonatal/métodos , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Aneuploidia , Cromossomos Humanos X , Variações do Número de Cópias de DNA/genética , Feminino , Dosagem de Genes , Humanos , Recém-Nascido , Cariotipagem/métodos , Síndrome de Klinefelter/diagnóstico , Masculino , México , Diagnóstico Pré-Natal/métodos , Proteínas R-SNARE/genética , Aberrações dos Cromossomos Sexuais , Cromossomos Sexuais/genética , Proteína da Região Y Determinante do Sexo/genética , Proteína de Homoeobox de Baixa Estatura/genética , Trissomia/diagnóstico , Síndrome de Turner/diagnóstico
4.
J Mol Evol ; 85(5-6): 172-187, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29094190

RESUMO

Hypoxia at deep-sea hydrothermal vents represents one of the most basic challenges for metazoans, which then requires specific adaptations to acquire oxygen to meet their metabolic needs. Hydrothermal vent scale-worms (Polychaeta; Polynoidae) express large amounts of extracellular single- and multi-domain hemoglobins, in contrast with their shallow-water relatives that only possess intracellular globins in their nervous system (neuroglobins). We sequenced the gene encoding the single-domain (SD) globin from nine species of polynoids found in various vent and deep-sea reduced microhabitats (and associated constraints) to determine if the Polynoidae SD globins have been the targets of diversifying selection. Although extracellular, all the SD globins (and multi-domain ones) form a monophyletic clade that clusters within the intracellular globin group of other annelids, indicating that these hemoglobins have evolved from an intracellular myoglobin-like form. Positive selection could not be detected at the major ecological changes that the colonization of the deep-sea and hydrothermal vents represents. This suggests that no major structural modification was necessary to allow the globins to function under these conditions. The mere expression of these globins extracellularly may have been sufficiently advantageous for the polynoids living in hypoxic hydrothermal vents. Among hydrothermal vent species, positively selected amino acids were only detected in the phylogenetic lineage leading to the two mussel-commensal species (Branchipolynoe). In this lineage, the multiplicity of hemoglobins could have lessened the selective pressure on the SD hemoglobin, allowing the acquisition of novel functions by positive Darwinian selection. Conversely, the colonization of hotter environments (species of Branchinotogluma) does not seem to have required additional modifications.


Assuntos
Globinas/genética , Poliquetos/genética , Sequência de Aminoácidos , Animais , Anelídeos/genética , Globinas/metabolismo , Hemoglobinas/genética , Fontes Hidrotermais , Consumo de Oxigênio/genética , Consumo de Oxigênio/fisiologia , Filogenia , Poliquetos/metabolismo , Seleção Genética/genética
5.
Nervenarzt ; 88(11): 1259-1265, 2017 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-27550388

RESUMO

BACKGROUND: Despite of the undisputed impact of education quality on becoming a specialist in psychiatry and psychotherapist, systematic studies in this field do not exist in Germany, apart from the evaluation of practical education by the medical councils. MATERIALS AND METHODS: The Akademie-OWL, an education union of psychiatric clinics in the East Westphalia region of Germany, has provided 12-item questionnaire-based routine evaluations of theoretical education seminars since 2009. Seminars are held by consultants of psychiatry and psychotherapy within six separate weeks over a period of four years. All lecturers receive feedback from the evaluation. The results of this ongoing evaluation are presented using a typical example and in an aggregated format as a time series on the basis of one global item. RESULTS: The data show that (1) the full range of a five-point Likert scale is used by the candidates, (2) psychiatric competences of the lecturers are more positively evaluated than their didactic competences, (3) neither within the four-years period of psychiatric education nor between different generations of candidates are systematic changes of evaluation results observed, and (4) minor to moderate differences of evaluation were observed between the different thematic fields of psychiatry and psychotherapy. DISCUSSION: These results indicate the need of more systematic education research on establishing valid and reliable specific instruments as well as the need of systematic training of didactic competences of teaching consultants.


Assuntos
Educação Médica Continuada , Psiquiatria/educação , Psicoterapia/educação , Faculdades de Medicina , Especialização , Competência Clínica , Currículo , Docentes de Medicina , Alemanha , Humanos , Inquéritos e Questionários
6.
PLoS One ; 10(12): e0144092, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26656122

RESUMO

Two tick-borne diseases with expanding case and vector distributions are ehrlichiosis (transmitted by Amblyomma americanum) and rickettiosis (transmitted by A. maculatum and Dermacentor variabilis). There is a critical need to identify the specific habitats where each of these species is likely to be encountered to classify and pinpoint risk areas. Consequently, an in-depth tick prevalence study was conducted on the dominant ticks in the southeast. Vegetation, soil, and remote sensing data were used to test the hypothesis that habitat and vegetation variables can predict tick abundances. No variables were significant predictors of A. americanum adult and nymph tick abundance, and no clustering was evident because this species was found throughout the study area. For A. maculatum adult tick abundance was predicted by NDVI and by the interaction between habitat type and plant diversity; two significant population clusters were identified in a heterogeneous area suitable for quail habitat. For D. variabilis no environmental variables were significant predictors of adult abundance; however, D. variabilis collections clustered in three significant areas best described as agriculture areas with defined edges. This study identified few landscape and vegetation variables associated with tick presence. While some variables were significantly associated with tick populations, the amount of explained variation was not useful for predicting reliably where ticks occur; consequently, additional research that includes multiple sampling seasons and locations throughout the southeast are warranted. This low amount of explained variation may also be due to the use of hosts for dispersal, and potentially to other abiotic and biotic variables. Host species play a large role in the establishment, maintenance, and dispersal of a tick species, as well as the maintenance of disease cycles, dispersal to new areas, and identification of risk areas.


Assuntos
Ecossistema , Ixodidae/crescimento & desenvolvimento , Análise de Variância , Animais , Análise por Conglomerados , Feminino , Masculino , Sudeste dos Estados Unidos
7.
Rev Neurol (Paris) ; 169(8-9): 663-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24011981

RESUMO

INTRODUCTION: Exercise intolerance (EI) is a frequent motive for seeking neuromuscular consultation and may be a sign of metabolic disease or, rarely, muscular dystrophy. The diagnosis is not established in many patients with a typical clinical presentation. Nevertheless, some of them complain of sleep disorders and more especially of restless legs syndrome (RLS). OBJECTIVE: The objective of our study was to estimate the frequency of RLS in patients presenting with EI. METHODS: Our retrospective observational study included all patients seen in the center from 2005 to 2011, who were subsequently investigated for EI in the neuromuscular department of the Caen University hospital. Data were collected on clinical RLS and muscular investigations (creatine kinase [CK], EMG, maximal exercise tests magnetic resonance imaging [MRI] and muscle biopsy obtained along with muscle exploration). RESULTS: Of the 318 patient records analyzed, 84 showed patients accurately complaining of EI. RLS was diagnosed in 25 of these patients (29.7%). This percentage was significantly higher (P<0.001) than found in the general population. Improvement was seen in 91.3% of the patients receiving specific treatment. CONCLUSION: RLS can sometimes present with pain, potentially worsening with exercise, inappropriately leading to a hypothesis of EI. Clinicians should thus explore the possible diagnosis of RLS when a muscular disease is not found in patients presenting with such symptoms.


Assuntos
Tolerância ao Exercício/fisiologia , Síndrome das Pernas Inquietas/etiologia , Adolescente , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Observacionais como Assunto , Encaminhamento e Consulta , Síndrome das Pernas Inquietas/epidemiologia , Estudos Retrospectivos , Adulto Jovem
8.
AJNR Am J Neuroradiol ; 31(7): 1290-6, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20360341

RESUMO

BACKGROUND AND PURPOSE: Ischemic stroke is commonly embolic, either from carotid atherosclerosis or from cardiac origin. These potential sources of emboli need to be investigated to accurately prescribe secondary stroke prevention. Moreover, the mortality in ischemic stroke patients due to ischemic heart disease is greater than that of age-matched controls, thus making evaluation for coronary artery disease important in this patient population. The purpose of this study was to evaluate the image quality of a comprehensive CTA protocol in patients with acute stroke that expands the standard CTA coverage to include all 4 chambers of the heart and the coronary arteries. MATERIALS AND METHODS: One hundred twenty patients consecutively admitted to the emergency department with suspected cerebrovascular ischemia undergoing standard-of-care CTA were prospectively enrolled in our study. We used an original tailored acquisition protocol using a 64-section CT scanner, consisting of a dual-phase intravenous injection of iodinated contrast and saline flush, in conjunction with a dual-phase CT acquisition, ascending from the top of the aortic arch to the vertex of the head, then descending from the top of the aortic arch to the diaphragm. No beta blockers were administered. The image quality, attenuation, and CNRs of the carotid, aortic, vertebral, and coronary arteries were assessed. RESULTS: Carotid, aorta, and vertebral artery image quality was 100% diagnostic (rated good or excellent) in all patients. Coronary artery image quality was diagnostic in 58% of RCA segments, 73% of LAD segments, and 63% of LCX segments. When we considered proximal segments only, the diagnostic quality rose to 71% in the RCA, 83% in the LAD, and 74% in the LCX. CONCLUSIONS: Our stroke protocol achieved excellent opacification of the left heart chambers, the cervical arteries, and each coronary artery, in addition to adequate carotid and coronary artery image quality.


Assuntos
Isquemia Encefálica/diagnóstico por imagem , Serviços Médicos de Emergência/métodos , Acidente Vascular Cerebral/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Doença Aguda , Adulto , Idoso , Idoso de 80 Anos ou mais , Aorta Torácica/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Artérias Carótidas/diagnóstico por imagem , Angiografia Coronária , Feminino , Coração/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Tomografia Computadorizada por Raios X/normas , Artéria Vertebral/diagnóstico por imagem
9.
Mol Biol Evol ; 27(1): 143-52, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19755665

RESUMO

Hemoglobin is the most common respiratory pigment in annelids. It can be intra or extracellular, and this latter type can form large multimeric complexes. The hydrothermal vent scale worms Branchipolynoe symmytilida and Branchipolynoe seepensis express an extracellular tetra-domain hemoglobin (Hb) that is unique in annelids. We sequenced the gene for the single-domain and tetra-domain globins in these two species. The single-domain gene codes for a mature protein of 137 amino acids, and the tetra-domain gene codes for a mature protein of 552 amino acids. The single-domain gene has a typical three exon/two intron structure, with introns located at their typical positions (B12.2 and G7.0). This structure is repeated four times in the tetra-domain gene, with no bridge introns or linker sequences between domains. The phylogenetic position of Branchipolynoe globins among known annelid globins revealed that, although extracellular, they cluster within the annelid intracellular globins clade, suggesting that the extracellular state of these Hbs is the result of convergent evolution. The tetra-domain structure likely resulted from two tandem duplications, domain 1 giving rise to domain 2 and after this the two-domain gene duplicated to produce domains 3 and 4. The high O(2) affinity of Branchipolynoe extracellular globins may be explained by the two key residues (B10Y and E7Q) in the heme pocket in each of the domains of the single and tetra-domain globins, which have been shown to be essential in the oxygen-avid Hb from the nematode Ascaris suum. This peculiar globin evolutionary path seems to be very different from other annelid extracellular globins and is most likely the product of evolutionary tinkering associated with the strong selective pressure to adapt to chronic hypoxia that characterizes hydrothermal vents.


Assuntos
Evolução Molecular , Hemoglobinas/genética , Poliquetos/genética , Estrutura Terciária de Proteína/genética , Sequência de Aminoácidos , Animais , Clonagem Molecular , DNA Complementar/química , Globinas/genética , Hemoglobinas/química , Íntrons , Dados de Sequência Molecular , Filogenia , Regiões Promotoras Genéticas , Alinhamento de Sequência , Análise de Sequência de DNA
10.
Eur Neurol ; 60(5): 244-52, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18756089

RESUMO

OBJECTIVE: The purpose of this study was to assess how imaging findings on admission perfusion CT (PCT) and follow-up noncontrast CT (NCT), and their changes over time, correlate with clinical scores of stroke severity measured on admission, at discharge and at 6-month follow-up. METHODS: Fifty-two patients with suspected hemispheric acute ischemic stroke underwent a PCT within the first 24 h of symptom onset and a follow-up NCT of the brain between 24 h and 3 months after the initial stroke CT study. NIH Stroke Scale (NIHSS) scores were recorded for each patient at admission, discharge and 6 months; modified Rankin scores were determined at discharge and 6 months. Baseline PCT and follow-up NCT were analyzed quantitatively (volume of ischemic/infarcted tissue) and semiquantitatively (anatomical grading score derived from the Alberta Stroke Program Early CT Score). The correlation between imaging volumes/scores and clinical scores was assessed. Analysis was performed for all patients considered together and separately for those with right and left hemispheric strokes. RESULTS: Significant correlations were found between clinical scores and both quantitative and semiquantitative imaging. The volume of the acute PCT mean transit time lesion showed best correlation with admission NIHSS scores (R2 = 0.61, p < 0.001). This association was significantly better for left hemispheric strokes (R(2) = 0.80, p < 0.001) than for right hemispheric strokes (R2 = 0.39, p = 0.131). Correlation between imaging and NIHSS scores was better than correlation between imaging and modified Rankin scores (p = 0.047). The correlation with discharge clinical scores was better than that with 6-month clinical scores (p = 0.012). CONCLUSIONS: Baseline PCT and follow-up NCT volumes predict stroke severity at baseline, discharge and, to a lesser extent, 6 months. The correlation is stronger for left-sided infarctions. This finding supports the use of PCT as a surrogate stroke outcome measure.


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/fisiopatologia , Tomografia Computadorizada de Emissão , Adulto , Idoso , Idoso de 80 Anos ou mais , Meios de Contraste , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada de Emissão/métodos
11.
AJNR Am J Neuroradiol ; 29(5): 875-82, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18272562

RESUMO

BACKGROUND AND PURPOSE: Plaque morphologic features have been suggested as a complement to luminal narrowing measurements for assessing the risk of stroke associated with carotid atherosclerotic disease, giving rise to the concept of "vulnerable plaque." The purpose of this study was to evaluate the ability of multidetector-row CT angiography (CTA) to assess the composition and characteristics of carotid artery atherosclerotic plaques with use of histologic examination as the gold standard. MATERIALS AND METHODS: Eight patients with transient ischemic attacks who underwent carotid CTA and "en bloc" endarterectomy were enrolled in a prospective study. An ex vivo micro-CT study of each endarterectomy specimen was obtained, followed by histologic examination. A systematic comparison of CTA images with histologic sections and micro-CT images was performed to determine the CT attenuation associated with each component of the atherosclerotic plaques. A computer algorithm was subsequently developed that automatically identifies the components of the carotid atherosclerotic plaques, based on the density of each pixel. A neuroradiologist's reading of this computer analysis was compared with the interpretation of the histologic slides by a pathologist with respect to the types and characteristics of the carotid plaques. RESULTS: There was a 72.6% agreement between CTA and histologic examination in carotid plaque characterization. CTA showed perfect concordance for calcifications. A significant overlap between densities associated with lipid-rich necrotic core, connective tissue, and hemorrhage limited the reliability of individual pixel readings to identify these components. However, CTA showed good correlation with histologic examination for large lipid cores (kappa = 0.796; P < .001) and large hemorrhages (kappa = 0.712; P = .102). CTA performed well in detecting ulcerations (kappa = 0.855) and in measuring the fibrous cap thickness (R(2) = 0.77; P < .001). CONCLUSION: The composition of carotid atherosclerotic plaques determined by CTA reflects plaque composition defined by histologic examination.


Assuntos
Artérias Carótidas/diagnóstico por imagem , Estenose das Carótidas/diagnóstico por imagem , Angiografia Cerebral/métodos , Intensificação de Imagem Radiográfica/métodos , Tomografia Computadorizada por Raios X/métodos , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
12.
J Neuroradiol ; 35(3): 157-64, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18242708

RESUMO

BACKGROUND AND PURPOSE: Imaging techniques utilizing acetazolamide challenges classically measure cerebral blood flow (CBF). In addition to measuring CBF, Perfusion-CT (PCT) can also assess cerebral blood volume (CBV) and mean transit time (MTT), expanding but also complicating the results of acetazolamide challenges performed using PCT. The goal of this study is to clarify the interpretation of PCT studies obtained during acetazolamide challenges. METHODS: Four consecutive patients were referred for evaluation of their cerebrovascular reserve because of suspected or known large vessel stenosis or occlusion. In one patient, the potential stenosis was found to be artifactual, and this subject was considered as a normal control. The remaining three patients had clinical histories clearly suggestive of a worsening in cerebrovascular reserve (no.1 with a single transient ischemic attack (TIA), no.2 with several TIAs, no.3 with multiple, prolonged TIAs). All patients underwent a baseline PCT scan, followed by intravenous injection of 1g acetazolamide and, 20 min postinjection, by a second PCT scan at exactly the same locations as the first. PCT cerebral blood flow, volume, and mean transit time values were measured in regions of interest (ROIs) encompassing the brain tissue at-risk and the normal brain tissue, defined based on the site of occlusion and the anatomy of the Circle of Willis. Changes in PCT parameters were calculated in corresponding ROIs on pre- and postacetazolamide PCT maps. RESULTS: As compared to the normal control patient, baseline CBF values in the at-risk regions were similar in patients nos.1 and 2, and lower in patient no.3. After acetazolamide administration, CBF increased by 32% in the normal patient and decreased by 11, 11, and 9% in the at-risk regions in patients nos.1, 2, and 3, respectively; CBV was stable for all patients except no.3, who showed a 36% increase; MTT was the PCT parameter whose change best differentiated the four patients (-17% in the normal patient, +9% in patient no.1, +24% in patient no.2, +48% in patient no.3). Interestingly, the baseline MTT values, measured before acetazolamide injection, showed a similar, gradual increase in the four patients, ranging from 4.5 to 8.1s. CONCLUSION: The degree of impairment in cerebrovascular reserve, as assessed by clinical history, correlated most closely with the change in MTT in response to acetazolamide. Increased baseline MTT values may be a static, quantitative indicator of compromised cerebrovascular reserve in at-risk territories.


Assuntos
Acetazolamida , Anticonvulsivantes , Circulação Cerebrovascular/fisiologia , Transtornos Cerebrovasculares/diagnóstico por imagem , Transtornos Cerebrovasculares/fisiopatologia , Tomografia Computadorizada por Raios X , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
13.
Biochem Biophys Res Commun ; 362(3): 601-5, 2007 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-17761147

RESUMO

We describe a young woman who presented with a progressive myopathy since the age of 9. Spectrophotometric analysis of the respiratory chain in muscle tissue revealed combined and profound complex I, III, II+III, and IV deficiency ranging from 60% to 95% associated with morphological and histochemical abnormalities of the muscle. An exhaustive screening of mitochondrial transfer and ribosomal RNAs showed a novel G>A substitution at nucleotide position 3090 which was detected only in urine sediment and muscle of the patient and was not found in her mother's blood cells and urine sample. We suggest that this novel de novo mutation in the 16S ribosomal RNA, a nucleotide which is highly conserved in different species, would impair mitochondrial protein synthesis and would cause a severe myopathy.


Assuntos
Mitocôndrias/metabolismo , Músculos/patologia , Doenças Musculares/patologia , Mutação Puntual , RNA Ribossômico 16S/genética , RNA Ribossômico 16S/metabolismo , Adulto , Criança , DNA Mitocondrial/metabolismo , Transporte de Elétrons , Feminino , Humanos , Masculino , Músculos/metabolismo , Linhagem , RNA Ribossômico/metabolismo , Espectrofotometria
14.
Theor Appl Genet ; 111(1): 136-49, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15864524

RESUMO

HPLC analysis was used to examine the cytosine methylation of total DNA extracted from four early-flowering lines that were induced by treating germinating seeds of flax (Linum usitatissimum) with the DNA demethylating agent 5-azacytidine. In the normal lines that gave rise to the induced early-flowering lines, flowering usually begins approximately 50 days after sowing. The early-flowering lines flower 7-13 days earlier than normal. The normal level of cytosine methylation was approximately 14% of the cytosines and 2.7% of the nucleosides. In the early-flowering lines, these levels were 6.2% lower than normal in DNA from the terminal leaf clusters of 14-day-old seedlings and 9.7% lower than normal in DNA from the cotyledons and immature shoot buds of 4-day-old seedlings. This hypomethylation was seen in lines that were five to nine generations beyond the treatment generation. The level of hypomethylation was similar in three of the four early-flowering lines, but was not as low in the fourth line, which flowers early but not quite as early as the other three lines. Unexpectedly, the degree of hypomethylation seen in segregant lines, derived by selecting for the early-flowering phenotype in the F(2) and F(3) generations of out-crosses, was similar to that seen in the early-flowering lines. Analysis of the methylation levels in segregating generations of out-crosses between early-flowering and normal lines demonstrated a decrease in methylation level during the selection of early-flowering segregants. The results suggest an association between hypomethylation and the early-flowering phenotype, and that the hypomethylated regions may not be randomly distributed throughout the genome of the early-flowering lines.


Assuntos
Azacitidina/farmacologia , Metilação de DNA/efeitos dos fármacos , Linho/crescimento & desenvolvimento , Flores/fisiologia , Fenótipo , Composição de Bases , Cruzamentos Genéticos , Citosina/metabolismo , Linho/genética , Flores/efeitos dos fármacos , Fatores de Tempo
16.
J Hered ; 94(6): 464-71, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-14691313

RESUMO

Two Drosophila pseudoobscura genomic clones have sequence similarity to the Drosophila melanogaster amylase region that maps to the 53CD region on the D. melanogaster cytogenetic map. The two clones with similarity to amylase map to sections 73A and 78C of the D. pseudoobscura third chromosome cytogenetic map. The complete sequences of both the 73A and 78C regions were compared to the D. melanogaster genome to determine if the coding region for amylase is present in both regions and to determine the evolutionary mechanism responsible for the observed distribution of the amylase gene or genes. The D. pseudoobscura 73A and 78C linkage groups are conserved with the D. melanogaster 41E and 53CD regions, respectively. The amylase gene, however, has not maintained its conserved linkage between the two species. These data indicate that amylase has moved via a transposition event in the D. melanogaster or D. pseudoobscura lineage. The predicted genes within the 73A and 78C regions show patterns of molecular evolution in synonymous and nonsynonymous sites that are consistent with previous studies of these two species.


Assuntos
Amilases/genética , Drosophila melanogaster/genética , Drosophila/genética , Evolução Molecular , Rearranjo Gênico , Animais , Sequência de Bases , Drosophila melanogaster/enzimologia , Previsões , Análise de Sequência de DNA , Especificidade da Espécie
17.
Oecologia ; 134(4): 547-53, 2003 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-12647127

RESUMO

We investigated the effects of changes in soil C and N availability on N mineralization, nitrification, denitrification, NH(3) volatilization, and soil respiration in the Mojave Desert. Results indicate a C limitation to microbial N cycling. Soils from underneath the canopies of Larrea tridentata (DC.) Cov., Pleuraphis rigida Thurber, and Lycium spp. exhibited higher rates of CO(2 ) flux, lower rates of NH(3) volatilization, and a decrease in inorganic N (NH(4)(+)-N and NO(3)(-)-N) with C addition. In addition to C limitation, soils from plant interspaces also exhibited a N limitation. Soils from all locations had net immobilization of N over the course of a 15-day laboratory incubation. However, soils from interspaces had lower rates of net nitrification and potential denitrification compared to soils from under plant canopies. The response to changes in C availability appears to be a short-term increase in microbial immobilization of inorganic N. Under controlled conditions, and over a longer time period, the effects of C and N availability appear to give way to larger differences due to spatial location. These findings have implications for ecosystems undergoing changes in soil C and N availability due to such processes as desertification, exotic species invasions, or elevated atmospheric CO(2) concentration.


Assuntos
Carbono/análise , Carbono/metabolismo , Clima Desértico , Nitrogênio/análise , Nitrogênio/metabolismo , Microbiologia do Solo , Solo , Amônia/análise , Disponibilidade Biológica , California , Dióxido de Carbono/análise , Ecossistema , Volatilização
18.
Oecologia ; 131(3): 463-467, 2002 May.
Artigo em Inglês | MEDLINE | ID: mdl-28547719

RESUMO

We examined soil and vegetation N isotopic composition (δ15N) and soil inorganic N availability in an intact Mojave desert ecosystem to evaluate potential effects of elevated atmospheric CO2 on N cycling. Vegetation from the dominant perennial shrub Larrea tridentata under elevated CO2 was enriched in 15N. Over a 7-month sampling period, Larrea δ15N values increased from 5.7±0.1‰ to 9.0±1.1‰ with elevated CO2; under ambient conditions, δ15N values of shrubs increased from 4.9±0.3‰ to 6.6±0.7‰. No difference was found in soil δ15N under elevated and ambient CO2. Soil δ15N values under the drought deciduous shrubs Lycium spp. were greatest (7.2±0.3‰), and soil under the C4 perennial bunchgrass Pleuraphis rigida had the lowest values (4.5±0.2‰). Several mechanisms could explain the enrichment in 15N of vegetation with elevated CO2. Results suggest that microbial activity has increased with elevated CO2, enriching pools of plant-available N and decreasing N availability. This hypothesis is supported by a significant reduction of plant-available N under elevated CO2. This indicates that exposure to elevated CO2 has resulted in significant perturbations to the soil N cycle, and that plant δ15N may be a useful tool for interpreting changes in the N cycle in numerous ecosystems.

19.
Acad Emerg Med ; 8(10): 968-73, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11581083

RESUMO

OBJECTIVES: Automated external defibrillators (AEDs) provide an opportunity to improve survival in out-of-hospital, ventricular fibrillation (VF) cardiac arrest by enabling laypersons not trained in rhythm recognition to deliver lifesaving therapy. The potential role of emergency dispatchers in the layperson use of AEDs is uncertain. This study was performed to examine whether dispatcher telephone assistance affected AED skill performance during a simulated VF cardiac arrest among a cohort of older adults. The hypothesis was that dispatcher assistance would increase the proportion who were able to correctly deliver a shock, but might require additional time. METHODS: One hundred fifty community-dwelling persons aged 58-84 years were recruited from eight senior centers in King County, Washington. All participants had received AED training approximately six months previously. For this study, the participants were randomized to AED operation with or without dispatcher assistance during a simulated VF cardiac arrest. The proportions who successfully delivered a shock and the time intervals from collapse to shock were compared between the two groups. RESULTS: The participants who received dispatcher assistance were more likely to correctly deliver a shock with the AED during the simulated VF cardiac arrest (91% vs 68%, p = 0.001). Among those who were able to deliver a shock, the participants who received dispatcher assistance required a longer time interval from collapse to shock [median (25th, 75th percentile) = 193 seconds (165, 225) for dispatcher assistance, and 148 seconds (138, 166) for no dispatcher assistance, p = 0.001]. CONCLUSIONS: Among older laypersons previously trained in AED operation, dispatcher assistance may increase the proportion who can successfully deliver a shock during a VF cardiac arrest.


Assuntos
Desfibriladores Implantáveis , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Desfibriladores Implantáveis/psicologia , Cardioversão Elétrica/instrumentação , Cardioversão Elétrica/psicologia , Feminino , Parada Cardíaca/complicações , Parada Cardíaca/psicologia , Parada Cardíaca/terapia , Humanos , Masculino , Competência Mental/psicologia , Pessoa de Meia-Idade , Fatores de Tempo , Fibrilação Ventricular/complicações , Fibrilação Ventricular/psicologia , Fibrilação Ventricular/terapia , Washington/epidemiologia
20.
Genetics ; 159(2): 673-87, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11606543

RESUMO

A 3.5-kb segment of the alcohol dehydrogenase (Adh) region that includes the Adh and Adh-related genes was sequenced in 139 Drosophila pseudoobscura strains collected from 13 populations. The Adh gene encodes four protein alleles and rejects a neutral model of protein evolution with the McDonald-Kreitman test, although the number of segregating synonymous sites is too high to conclude that adaptive selection has operated. The Adh-related gene encodes 18 protein haplotypes and fails to reject an equilibrium neutral model. The populations fail to show significant geographic differentiation of the Adh-related haplotypes. Eight of 404 single nucleotide polymorphisms (SNPs) in the Adh region were in significant linkage disequilibrium with three ADHR protein alleles. Coalescent simulations with and without recombination were used to derive the expected levels of significant linkage disequilibrium between SNPs and 18 protein haplotypes. Maximum levels of linkage disequilibrium are expected for protein alleles at moderate frequencies. In coalescent models without recombination, linkage disequilibrium decays between SNPs and high frequency haplotypes because common alleles mutate to haplotypes that are rare or that reach moderate frequency. The implication of this study is that linkage disequilibrium mapping has the highest probability of success with disease-causing alleles at frequencies of 10%.


Assuntos
Álcool Desidrogenase/genética , Alelos , Drosophila/genética , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Animais , Drosophila/enzimologia , Evolução Molecular , Haplótipos , Filogenia
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