RESUMO
Fungi of the Ascomycota phylum were isolated from oil-soaked sand patties collected from beaches following the Deepwater Horizon oil spill. To examine their ability to degrade oil, fungal isolates were grown on oiled quartz at 20°C, 30°C and 40°C. Consistent trends in oil degradation were not related to fungal species or temperature and all isolates degraded variable quantities of oil (32-65%). Fungal isolates preferentially degraded short (Assuntos
Ascomicetos/isolamento & purificação
, Ascomicetos/metabolismo
, Poluição por Petróleo
, Petróleo/metabolismo
, Alcanos/química
, Alcanos/metabolismo
, Biodegradação Ambiental
, Poluentes Ambientais/química
, Poluentes Ambientais/metabolismo
, Golfo do México
, Peso Molecular
, Hidrocarbonetos Policíclicos Aromáticos/química
, Hidrocarbonetos Policíclicos Aromáticos/metabolismo
, Quartzo
, Dióxido de Silício
RESUMO
BACKGROUND AND PURPOSE: The aim of our study was to determine the utility of longitudinal magnetic resonance imaging (MRI) measurements as potential biomarkers in the main genetic variants of frontotemporal dementia (FTD), including microtubule-associated protein tau (MAPT) and progranulin (GRN) mutations and C9ORF72 repeat expansions, as well as sporadic FTD. METHODS: In this longitudinal study, 58 subjects were identified who had at least two MRI and MAPT mutations (n = 21), GRN mutations (n = 11), C9ORF72 repeat expansions (n = 11) or sporadic FTD (n = 15). A total of 198 serial MRI measurements were analyzed. Rates of whole brain atrophy were calculated using the boundary shift integral. Regional rates of atrophy were calculated using tensor-based morphometry. Sample size estimates were calculated. RESULTS: Progressive brain atrophy was observed in all groups, with fastest rates of whole brain atrophy in GRN, followed by sporadic FTD, C9ORF72 and MAPT. All variants showed greatest rates in the frontal and temporal lobes, with parietal lobes also strikingly affected in GRN. Regional rates of atrophy across all lobes were greater in GRN compared to the other groups. C9ORF72 showed greater rates of atrophy in the left cerebellum and right occipital lobe than MAPT, and sporadic FTD showed greater rates in the anterior cingulate than C9ORF72 and MAPT. Sample size estimates were lowest using temporal lobe rates in GRN, ventricular rates in MAPT and C9ORF72, and whole brain rates in sporadic FTD. CONCLUSION: These data support the utility of using rates of atrophy as outcome measures in future drug trials in FTD and show that different imaging biomarkers may offer advantages in the different variants of FTD.
Assuntos
Encéfalo/patologia , Demência Frontotemporal/patologia , Peptídeos e Proteínas de Sinalização Intercelular/genética , Imageamento por Ressonância Magnética/métodos , Proteínas/genética , Proteínas tau/genética , Idoso , Atrofia/patologia , Biomarcadores , Proteína C9orf72 , Feminino , Demência Frontotemporal/diagnóstico , Demência Frontotemporal/genética , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Mutação , ProgranulinasRESUMO
OBJECTIVE: To determine the proton magnetic resonance spectroscopy ((1)H MRS) changes in carriers of microtubule-associated protein (MAPT) mutations in a case-control study. METHODS: Patients with MAPT mutations (N279K, V337M, R406W, IVS9-10G>T, P301L) from 5 different families (n = 24) underwent MRI and single voxel (1)H MRS from the posterior cingulate gyrus inferior precuneus at 3 T. Ten of the patients were symptomatic with median Clinical Dementia Rating sum of boxes score (CDR-SOB) of 6.5 and 14 patients were presymptomatic with CDR-SOB of 0. Age- and sex-matched controls (n = 24) were recruited. RESULTS: Symptomatic MAPT mutation carriers were characterized by decreased N-acetylaspartate/creatine (NAA/Cr) ratio, an index of neuronal integrity, increased myoinositol (mI)/Cr ratio, a possible marker for glial activity, decreased NAA/mI, and hippocampal atrophy (p < 0.001). Whereas presymptomatic MAPT mutation carriers had elevated mI/Cr and decreased NAA/mI (p < 0.001), NAA/Cr levels and hippocampal volumes were not different from controls. Decrease in NAA/Cr (R(2) = 0. 22; p = 0.021) and hippocampal volumes (R(2) = 0.46; p < 0.001) were associated with proximity to the expected or actual age at symptom onset in MAPT mutation carriers. CONCLUSION: (1)H MRS metabolite abnormalities characterized by an elevated mI/Cr and decreased NAA/mI are present several years before the onset of symptoms in MAPT mutation carriers. The data suggest an ordered sequencing of the (1)H MRS and MRI biomarkers. MI/Cr, a possible index of glial proliferation, precedes the decrease in neuronal integrity marker NAA/Cr and hippocampal atrophy. (1)H MRS may be a useful inclusion biomarker for preventive trials in presymptomatic carriers of MAPT mutations and possibly other proteinopathies.
Assuntos
Heterozigoto , Espectroscopia de Ressonância Magnética , Mutação , Tauopatias/metabolismo , Proteínas tau/fisiologia , Adulto , Idoso , Biomarcadores/metabolismo , Estudos de Casos e Controles , Demência/diagnóstico , Demência/genética , Demência/metabolismo , Feminino , Hipocampo/metabolismo , Hipocampo/patologia , Humanos , Espectroscopia de Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Tauopatias/diagnóstico , Tauopatias/genética , Proteínas tau/genética , Proteínas tau/metabolismoRESUMO
As national programmes respond to the new opportunities presented for scaling up preventive chemotherapy programmes for the coadministration of drugs to target lymphatic filariasis, onchocerciasis, schistosomiasis, soil-transmitted helminthiasis, and trachoma, possible synergies between existing disease-specific policies and protocols need to be examined. In this report we compare present policies for mapping, monitoring, and surveillance for these diseases, drawing attention to both the challenges and opportunities for integration. Although full integration of all elements of mapping, monitoring, and surveillance strategies might not be feasible for the diseases targeted through the preventive chemotherapy approach, there are opportunities for integration, and we present examples of integrated strategies. Finally, if advantage is to be taken of scaled up interventions to address neglected tropical diseases, efforts to develop rapid, inexpensive, and easy-to-use methods, whether disease-specific or integrated, should be increased. We present a framework for development of an integrated monitoring and evaluation system that combines both integrated and disease-specific strategies.
Assuntos
Países em Desenvolvimento , Política de Saúde , Doenças Parasitárias/epidemiologia , Vigilância da População , Clima Tropical , Filariose Linfática/diagnóstico , Filariose Linfática/epidemiologia , Helmintíase/diagnóstico , Helmintíase/epidemiologia , Helmintíase/transmissão , Humanos , Oncocercose/diagnóstico , Oncocercose/epidemiologia , Doenças Parasitárias/diagnóstico , Doenças Parasitárias/prevenção & controle , Esquistossomose/diagnóstico , Esquistossomose/epidemiologia , Tracoma/diagnóstico , Tracoma/epidemiologiaRESUMO
OBJECTIVE: Plasma A beta levels are elevated in early-onset Alzheimer disease (AD) caused by autosomal dominant mutations. Our objective was to determine whether similar genetic elevations exist in late-onset AD (LOAD). METHODS: We measured plasma A beta in first-degree relatives of patients with LOAD in a cross-sectional series and in extended LOAD families. We screened these subjects for pathogenic mutations in early-onset AD genes and determined their ApoE genotypes. RESULTS: Plasma A beta is significantly elevated in the LOAD first-degree relatives in comparison to unrelated controls and married-in spouses. These elevations are not due to ApoE epsilon 4 or pathogenic coding mutations in the known early-onset AD genes. CONCLUSIONS: The findings provide strong evidence for the existence of novel, as yet unknown genetic factors that affect late-onset Alzheimer disease by increasing A beta.
Assuntos
Doença de Alzheimer/sangue , Peptídeos beta-Amiloides/sangue , Saúde da Família , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/genética , Apolipoproteína E4/genética , Ensaio de Imunoadsorção Enzimática/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fragmentos de Peptídeos/sangue , Polimorfismo Genético , Presenilinas/genética , Escalas de Graduação Psiquiátrica , Fatores Sexuais , Fatores de TempoRESUMO
In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. Comparison of the tau genotype/haplotype carrying the mutation and the initial clinical sign showed association between H1/H1 and parkinsonism and between H1/H2 and personality change. Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course.
Assuntos
Cromossomos Humanos Par 17/genética , Degeneração Lobar Frontotemporal/genética , Ligação Genética , Mutação/genética , Transtornos Parkinsonianos/genética , Proteínas tau/genética , Adulto , Feminino , Degeneração Lobar Frontotemporal/patologia , Genótipo , Haplótipos/genética , Humanos , Masculino , Transtornos Parkinsonianos/patologia , Adulto JovemRESUMO
OBJECTIVE: To report genealogic, clinical, imaging, neuropathologic, and genetic data from a Canadian kindred with dystonia and brain calcinosis originally described in 1985. METHODS: The authors performed clinical examinations and CT and PET studies of the head and analyzed blood samples. One autopsy was performed. RESULTS: The family tree was expanded to 166 individuals. No individuals were newly affected with dystonia, but postural tremor developed in two. The mean age at symptom onset was 19 years. Eight individuals had dystonia: three focal, one segmental, one multifocal, and three generalized. Seven displayed additional signs: chorea, intellectual decline, postural tremor, and dysarthria. CT studies were performed on five affected and 10 at-risk family members. All affected individuals and eight at-risk individuals had brain calcinosis. PET scans in two individuals showed reduced D(1)- and D(2)-receptor binding and reduced uptake of 6-[(18)F]fluoro-l-dopa. Autopsy of one affected individual showed extensive depositions of calcium in the basal ganglia, thalamus, cerebral white matter, and cerebellum. No specific immunohistochemistry abnormalities were seen. Genome search data showed no evidence of linkage to the previously described loci IBGC1, DYT1, and DYT12. CONCLUSIONS: The phenotype of this family consists of dystonia-plus syndrome. Brain calcium deposits vary in severity and distribution, suggesting that calcifications alone are not entirely responsible for the observed clinical signs. Further studies are needed to elucidate the etiology of this heterogeneous group of disorders.
Assuntos
Encefalopatias/epidemiologia , Encefalopatias/genética , Calcinose/epidemiologia , Calcinose/genética , Cromossomos Humanos Par 14/genética , Distúrbios Distônicos/epidemiologia , Distúrbios Distônicos/genética , Adolescente , Adulto , Idoso , Canadá/epidemiologia , Criança , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Comorbidade , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Prevalência , Medição de Risco/métodos , Fatores de RiscoRESUMO
PURPOSE/OBJECTIVES: To describe patient outcomes (e.g., pain intensity and relief, satisfaction, expectations) and analgesic practices of healthcare providers for inpatients and outpatients in community hospital settings. DESIGN: Descriptive, correlational, and random sampling. SETTING: Three community-based institutions in southeast Louisiana. SAMPLE: 114 inpatients and outpatients with cancer-related or acute postoperative pain. Inpatients (n = 68) mostly were women and younger than 60 years of age. Outpatients (n = 46) mostly were men and older than 60 years of age. Both groups were predominantly well-educated and Caucasian. METHODS: Subjects completed a modified version of the American Pain Society's Patient Satisfaction Survey. Researchers completed a chart audit tool reviewing analgesic prescriptive and administrative practices. FINDINGS: Weak to moderately strong correlations existed for the relationships between the satisfaction variables and the pain intensity, pain relief, and expectation variables for all subjects. Satisfaction with current pain intensity was correlated most strongly with pain intensity and relief scores. Higher pain intensity and relief were related to lower satisfaction with current pain intensity. CONCLUSIONS: Regardless of setting or pain type, subjects experienced significant amounts of pain during a 24-hour period. Patient expectations for experiencing high levels of pain were realized, but expectations for significant pain relief were not. IMPLICATIONS FOR NURSING PRACTICE: Institutional pain management programs that approach pain from a multidimensional perspective need to be developed. Continued education for healthcare professionals and patients is a vital part of this process.
Assuntos
Analgésicos/uso terapêutico , Hospitais Comunitários/normas , Auditoria Médica , Medição da Dor/classificação , Dor/tratamento farmacológico , Satisfação do Paciente/estatística & dados numéricos , Adulto , Idoso , Feminino , Humanos , Pacientes Internados/psicologia , Louisiana , Masculino , Pessoa de Meia-Idade , Neoplasias/complicações , Enfermagem Oncológica , Avaliação de Processos e Resultados em Cuidados de Saúde , Pacientes Ambulatoriais/psicologia , Dor/etiologia , Dor/fisiopatologiaRESUMO
Religious commitment as an influence upon seeking help for psychological problems has not received the same level of research attention as variables such as sex, ethnicity and cultural background. The construing of members of a group of committed UK Christians was investigated, regarding their receiving such help from a variety of different helpers, professional and non-professional, secular and spiritual. Each participant was asked to interpret the factors statistically identified from construct and element relationships in a repertory grid that they had completed. Their commentaries formed the data for a qualitative thematic analysis, which gave rise to four main themes. From these, a tentative model is discussed. Possible implications for the acceptance of service provision by the substantial minority groups of religiously committed people in the UK are considered in the light of this model--and in the light of the further research that would be needed to establish it.
Assuntos
Atitude , Transtornos do Humor/terapia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Religião e Psicologia , Adulto , Cristianismo , Feminino , Humanos , Masculino , Serviços de Saúde MentalRESUMO
We describe a diffuse large cell (Kiel-1) lymphoma in a 76-year-old man that is noteworthy because, apart from a missing Y, the only chromosome change was a hitherto undescribed reciprocal translocation, t(9;11)(p21-22;q13). It is interesting that the breakpoints lay in the vicinity of genes that encode proteins engaged in cell cycle control: CCND1 situated at 11q13 and p15 and p16 at 9p21.
Assuntos
Cromossomos Humanos Par 11 , Cromossomos Humanos Par 9 , Linfoma Difuso de Grandes Células B/genética , Cromossomo Y , Ciclo Celular , Bandeamento Cromossômico , Deleção Cromossômica , Humanos , MasculinoRESUMO
In view of the sparsity of reports on nucleolar organizer regions (NORs) in human tumor metaphase chromosomes, we have applied the silver (Ag-NOR) technique to a previously studied testicular germ-cell tumor that had an abnormal translocation, which involved a 13p, and to nine new sequentially studied tumors. Six of the new tumors, and the germ cell tumor, showed ectopic NORs (e.g., at the end of the long arm of acrocentrics or metacentrics, or interstitially in metacentrics): five carcinomas and a leiomyosarcoma, all of which also revealed numerous structural chromosome changes after G-banding. The three tumors that did not show ectopic NORs were lymphomas with relatively simple karyotypic changes. It seems that the presence of ectopic NORs in the majority of the tumors is a reflection of the multiplicity of structural changes in these tumors and does not signify that there is any particular propensity for acrocentrics to take part in these changes. It was interesting that several of the chromosomes showed large notably a metacentric in a squamous cell carcinoma of the skin in which the Ag-NOR-positive region was seen as an unstained gap in unbanded and G-banded chromosomes.
Assuntos
Metáfase , Neoplasias/genética , Região Organizadora do Nucléolo , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Coloração pela PrataRESUMO
Europe has taken legislative measures to improve the management of packaging and packaging waste. This article outlines the arguments for excluding medical device packaging from the provisions of the recently published European Directive on packaging and packaging waste. Developments in a new barrier test method and further increases in the price of raw materials are also discussed.
Assuntos
Equipamentos e Provisões , Embalagem de Produtos/normas , Reutilização de Equipamento , Europa (Continente) , Estudos de Avaliação como Assunto , Guias como Assunto , Humanos , Embalagem de Produtos/economia , Embalagem de Produtos/legislação & jurisprudênciaRESUMO
Chromosome studies on a highly malignant tumor, a small cell carcinoma of the bladder (the first to be studied cytogenetically), showed a hypertriploid mainline and a hypertetraploid minor line. Extensive chromosomal rearrangements were present in both lines, some rearranged chromosomes being seen in only one of the lines, while others, derived from chromosomes 6, 9, 11, 13, and 18, were seen in both. Although different giant chromosomes were present in the two lines, they shared a possibly significant common feature: multiple copies of 2q. DNA flow cytometry confirmed that the tumor had a hypertriploid main mode and showed that dysplastic surface epithelium present in the histologic material also had a hypertriploid DNA index. p53 expression in the tumor was demonstrated by flow cytometry.
Assuntos
Carcinoma de Células Pequenas/genética , Aberrações Cromossômicas , Proteína Supressora de Tumor p53/genética , Neoplasias da Bexiga Urinária/genética , DNA de Neoplasias/análise , Humanos , Cariotipagem , Masculino , Pessoa de Meia-IdadeRESUMO
In a previous study, we described 17p+ chromosomes in about 40% of carcinomas of the cervix, but it was usually not possible to identify the additional material on the short arm of the chromosome 17. Here we report an apparently identical rearranged chromosome in two squamous cell carcinomas of the cervix and one of the skin, in which the whole of 17p has been replaced by the long arm of a chromosome 22: der(17;22)(q10;q10), suggesting that this rearrangement may represent a significant step in the development of carcinomas of the cervix and other sites.
Assuntos
Aberrações Cromossômicas , Neoplasias Cutâneas/genética , Neoplasias do Colo do Útero/genética , Adulto , Feminino , Humanos , Cariotipagem , Masculino , Pessoa de Meia-IdadeRESUMO
Conventional video-recordings of pediatric bronchoscopic procedures are routinely performed in many centers. The limitations of conventional video-recordings include an inability to concurrently compare serially recorded images, lack of color fidelity of the displayed image, difficulty in image retrieval of archived video, and the inability to subject the image to mathematical analysis. We describe a computer interface which addresses each of these limitations.
Assuntos
Broncoscopia/métodos , Sistemas Computacionais , Gravação de Videoteipe , Broncoscópios , Criança , Apresentação de Dados , Tecnologia de Fibra Óptica/instrumentação , Humanos , Pediatria/instrumentação , Software , Gravação de Videoteipe/instrumentação , Gravação de Videoteipe/métodosRESUMO
Deletions of the long arm of chromosome 7, with breakpoints varying from q11 to q34, are described in 13 malignant tumors, including three carcinomas of the prostate, three colorectal carcinomas, and four testicular germ cell tumors. In two of the tumors, the chromosome also had a deletion of 7p. Review of the literature shows that 7q- chromosomes have been detected in various tumor types and are particularly common in benign and malignant mesothelial tumors, secondary leukemias, testicular cancers, and carcinomas of the ovary and prostate. Their significance may lie in loss of an unknown tumor-suppressor gene situated distally on 7q.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 7 , Neoplasias/genética , Neoplasias da Mama/genética , Neoplasias Colorretais/genética , Feminino , Humanos , Masculino , Neoplasias Ovarianas/genética , Neoplasias da Próstata/genética , Neoplasias Testiculares/genética , Neoplasias da Bexiga Urinária/genéticaRESUMO
A chromosome 12-derived marker was seen in each of 3 testicular germ cell tumors that lacked the i(12p). An interesting feature of 2 of the markers was that the major part, including the centromere, of an acrocentric (a #13 and #14, respectively) was translocated onto 12p, resulting in a dicentric. In the third tumor, 13q (translocated onto 12q) was again probably involved in the rearrangement. The findings support the view that the amplification of genes on 12p represents a significant step in the development of germ cell tumors.