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1.
Phys Chem Chem Phys ; 25(40): 27142-27150, 2023 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-37789689

RESUMO

Herein, we investigate the DDT (1-dodecanethiol) functionalization of exfoliated MoS2 by using experimental and theoretical tools. For the functionalization of MoS2, DDT treatment was incorporated into the conventional NMP (N-methyl pyrrolidone) exfoliation procedure. Afterward, it has been demonstrated that the functionalization process is successful through optical, morphological and theoretical analysis. The D, G and 2LA peaks seen in the Raman spectrum of exfoliated NMP-MoS2 particles, indicate the formation of graphitic species on MoS2 sheets. In addition, as the DDT ratio increases, the vacant sites on MoS2 sheets diminish. Moreover, at an optimized ratio of DDT-NMP, the maximum number of graphitic quantum dots (GQDs) is observed on MoS2 nanosheets. Specifically, the STEM and AFM data confirm that GQDs reside on the MoS2 nano-sheets and also that the particle size of the DDT-MoS2 is mostly fixed, while the NMP-MoS2 show many smaller and distributed sizes. The comparison of PL intensities of the NMP-MoS2 and DDT-MoS2 samples states a 10-fold increment is visible, and a 60-fold increment in NIR region photoluminescent properties. Moreover, our results lay out understanding and perceptions on the surface and edge chemistry of exfoliated MoS2 and open up more opportunities for MoS2 and GQD particles with broader applications.

2.
Graefes Arch Clin Exp Ophthalmol ; 259(3): 759-768, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32945936

RESUMO

PURPOSE: To assess visual acuity in 5-year-old children with LEA chart and to estimate the frequency of reduced visual acuity in this age. METHOD: Study aimed at children attending the last year of preschool education in Public Kindergartens and Private Social Solidarity Institutions (IPSS) under the influence Regional Health Administration of the Médio Tejo, in Portugal. The 15-line LEA charts at 3 m were used and the presentation visual acuity was measured monocularly starting with the right eye. The ETDRS-fast methodology was used. RESULTS: A total of 3072 children participated, being 51% male and 54% from rural area. A rate of 13.7% children with a reduced level of visual acuity was found, that is, visual acuity worse or equal to 0.2 logMAR in at least one eye, or an interocular difference greater than two lines. CONCLUSION: This research shows that reduced VA frequency rate in children between 5 and 6 years old is high. The literature presents amblyopia (refractive and/or strabismic) and uncorrected refractive errors without amblyopia as the main cause of reduced VA in childhood, and these anomalies negatively affect child development, especially at the educational level. Reduced VA interferes with performance on a number of key tasks in the learning process. Thus, it is important to preserve the running program to identify these deficits and lead to their correction before the beginning of the school stage.


Assuntos
Ambliopia , Erros de Refração , Acuidade Visual , Ambliopia/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Portugal , Testes Visuais
3.
Environ Sci Pollut Res Int ; 22(5): 3249-56, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24788935

RESUMO

The present study investigated the optimization of arsenic adsorption onto natural clinoptilolite (NC-Na). Response surface methodology in combination with Box-Behnken design was used to optimize the parameters of the adsorption process. Solution pH, temperature, and initial arsenic concentration were chosen as the main process variables, and the amount of arsenic adsorbed was selected as the investigated response. The analysis of variance results of the response surface model for arsenate (As(V)) adsorption on NC-Na showed that the effects and the interactions of pH and temperature were highly significant according to the p values (p < 0.05). The optimum conditions were found to be the solution pH of 5.0, temperature of 45 °C, and initial concentration of 7.8 mg L(-1). The response surfaces derived from the models revealed that solution pH and temperature showed the greatest effect on the As(V) adsorption capacity of natural clinoptilolite.


Assuntos
Arseniatos/química , Poluentes Químicos da Água/química , Zeolitas/química , Adsorção , Arsênio/química , Concentração de Íons de Hidrogênio , Análise de Regressão , Temperatura , Turquia
4.
J Clin Pharm Ther ; 40(4): 486-8, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25381906

RESUMO

http://onlinelibrary.wiley.com/doi/10.1111/jcpt.12228/pdf The above article, published online on 10 November 2014 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the authors, the journal Editor in Chief, A. Li Wan Po, and John Wiley & Sons Ltd. The retraction has been agreed because, unknown to the authors, another group published a similar study based on the same material in the Indian Journal of Pharmacology: Kocayigit I, Can Y, Sahinkus S, et al. Spontaneous rectus sheath haematoma during rivaroxaban therapy. Indian Journal of Pharmacology. 2014;46(3):339-340. doi:10.4103/0253-7613.132193.

5.
Aust Dent J ; 57(4): 435-9, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23186567

RESUMO

BACKGROUND: The aim of this pilot study was to evaluate the effects of mouthrinses containing 7.5% povidone iodine and 0.2% chlorhexidine on bacteraemia following impacted third molar surgery. METHODS: Thirty-four patients were enrolled in this study. Patients in the first group were asked to rinse their mouth with the mouthrinse containing 7.5% povidone iodine, patients in the second group were asked to rinse with the mouthrinse containing 0.2% chlorhexidine and patients in the third group were asked to rinse with 0.9% NaCl (sterile saline) solution. All rinses were used for one minute preoperatively. Peripheral venous blood samples were collected at baseline (preoperatively), 1 and 15 minutes after the completion of surgical tooth removal. Each blood sample was divided in two, placed in aerobic and anaerobic culture bottles and processed for microbiological examination. RESULTS: Bactaeremia was detected in 33% of the povidone iodine group, 33% of the chlorhexidine group and 50% of the control group. Isolated bacteria were 58% anaerobes and predominantly 92%Streptococcus species. Incidence of bacteraemia was reduced with chlorhexidine and povidone iodine mouthrinses in third molar surgery, although the difference was not statistically significant (p > 0.05). CONCLUSIONS: Bacteraemia was reduced with antibacterial mouthrinses in third molar surgery. The results of this study should be confirmed with further studies conducted on a larger patient population and with different antibacterial mouthrinses.


Assuntos
Antibacterianos/uso terapêutico , Bacteriemia/tratamento farmacológico , Clorexidina/uso terapêutico , Dente Serotino/cirurgia , Antissépticos Bucais/uso terapêutico , Povidona-Iodo/uso terapêutico , Dente Impactado/cirurgia , Idoso , Bacteriemia/diagnóstico , Bactérias Anaeróbias/efeitos dos fármacos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Antissépticos Bucais/química , Projetos Piloto , Cuidados Pré-Operatórios , Streptococcus/efeitos dos fármacos , Extração Dentária/efeitos adversos , Adulto Jovem
6.
Environ Monit Assess ; 165(1-4): 389-97, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19415510

RESUMO

Efficacious botanical derivatives can provide an alternative to synthetic pesticides for organic farming systems. However, there is lack of information regarding the side effects of organic pesticides on key soil ecological processes. In this study, we investigated the effects of aqueous extracts from Urginea maritima and Euphorbia myrsinites exhibiting translaminar and systemic activity against pests on microbial biomass and enzymatic activities in soil. Two grams of plant material was extracted with 100 ml of water and then diluted 1:100, 2:100, and 4:100 with distilled water. Diluted plant extracts were applied around hypocotyl of tomato by soil drench. The effect of both plant extracts on microbial biomass C, amount of total N and organic C, and enzymatic activity in soil was significant. After the last application, the highest microbial biomass C was determined in the lowest U. maritima concentration (U 1:100). Soils treated with the highest concentration of U. maritima (U 4:100) had always lower SMBC content than control soil. All concentrations of E. myrsinites decreased microbial biomass C by 18% to 27% compared to the control. Total nitrogen and organic carbon decreased in soils without (control) and with treated U. maritima extract from first application to last application. Phosphatase, urease, and beta-glucosidase activities were monitored in plant extract-treated soils. Except U. maritima 1:100 treatments of second and fourth applications, the other treatments of plant extracts negatively affected enzymatic activity in soil. U. maritima and E. myrsinites plant extracts exhibited different effects on soil microbial biomass and activity, probably because of their different chemical contents.


Assuntos
Biomassa , Drimia/química , Enzimas/análise , Euphorbia/química , Inseticidas , Extratos Vegetais/farmacologia , Microbiologia do Solo , Solo/análise , Monitoramento Ambiental/métodos
7.
Environ Monit Assess ; 125(1-3): 47-57, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16897512

RESUMO

Seasonal variation of the concentrations of trace metals (Cd, Co, Cr, Cu, Fe, Mn, Ni, Pb and Zn) were measured by ICP-AES in the water and sediment from the Saricay Stream, Geyik Dam and Ortakoy Well in the same basin. Comparisons between trace metal concentrations in water and sediment in three sources (Stream, Dam and Well) were made. The concentrations of a large number of trace metals in the water and sediment were generally higher in the Stream than in the Well and Dam, particularly in summer. Trace metal concentration ranges in sediments of the Saricay Stream and its sources showed very wide ranges (as mass ratio): Co: 5-476 microg g(-1), Cr: 15-1308 microg g(-1), Cu: 7-128 microg g(-1), Fe: 1120-13210 microg g(-1), Mn: 150-2613 microg g(-1), Ni: 102-390 microg g(-1), Pb: 0.7-31.3 microg g(-1) and Zn: 18-304 microg g(-1), whereas Cd was not detected. Trace metal concentration ranges found in waters were: Co: 9.5-20.7 microg L(-1), Cr: 20.3-284 microg L(-1), Cu: 170-840 microg L(-1), Fe: 176-1830 microg L(-1), Mn: 29.3-387 microg L(-1), and Ni: 4.3-21.9 microg L(-1). Among the trace metals studied, Cd and Zn in two seasons and Pb in winter were usually not detected or in the recommended levels. In addition, Cd was not detected in the sediment during the winter season. The analysis of variance (one-way ANOVA) and correlation matrix was employed for the sediment and water samples of the two field surveys (summer and winter) comparison. The three sources showed differences in metal contents. The metal levels in sediments displayed marked seasonal and regional variations, which were attributed to anthropogenic influences and natural processes. In the Saricay Stream, high values of metals during the dry season showed an anthropological effect from small industry firms, e.g.: an olive mill and a dairy farm or water dilution during summer seasons. Finally, the pollution in this basin probably originated from small industrial, low quality coal-burned thermal power plants, and particularly agricultural and domestic waste discharges.


Assuntos
Sedimentos Geológicos/análise , Rios/química , Oligoelementos/análise , Poluentes Químicos da Água/análise , Água/química , Sedimentos Geológicos/química , Estações do Ano , Turquia
8.
Chemosphere ; 63(9): 1451-8, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16325225

RESUMO

Concentrations of heavy metals (Cd, Cr, Cu, Pb and Zn) were measured in water, bottom sediment and tissues (muscle and gills) of Leuciscus cephalus from the Dipsiz stream in the Yatagan basin (southwestern Turkey), the site of a thermal power plant. Results for levels in water were compared with national and international water quality guidelines, as well as literature values were reported for streams and rivers. Comparisons were made of metal concentrations in water and sediment with those in the muscle and gills of L. cephalus caught from the Dipsiz stream. We found that there was metal accumulation in the gills compared to the muscle. Concentrations of Cd, Pb, Zn and Cr in the gills were higher than that in the muscle; however, Cu levels were higher in muscle than that in gills. Concentrations of heavy metals in L. cephalus muscle were below the legal limits for human consumption, although Cr, Pb and Zn levels in the gills were above the limits in the fish taken from the Dipsiz stream. On the other hand, no correlation was found between metal concentrations in water and sediment or between metal concentrations in water and muscle and gills of L. cephalus. A positive correlation was found between concentrations of Cu and Zn in the sediment and in fish tissue, whereas there was no relationship between other metal concentrations in the sediment and water, and muscle and gills of L. cephalus. As with water, Pb and Cd concentrations in particular were higher in sediment than that in background levels. The results show that the pollutants from the thermal power plant may be a source of these elements.


Assuntos
Cyprinidae , Metais Pesados/análise , Poluentes Químicos da Água/análise , Animais , Monitoramento Ambiental , Cadeia Alimentar , Contaminação de Alimentos , Sedimentos Geológicos , Brânquias/química , Humanos , Metais Pesados/farmacocinética , Músculos/química , Centrais Elétricas , Rios , Distribuição Tecidual , Turquia
10.
Rev Neurol ; 37(11): 1032-4, 2003.
Artigo em Espanhol | MEDLINE | ID: mdl-14669143

RESUMO

CASE REPORT: We report the case of a 46-year-old patient, with a dural arteriovenous fistula in the left cavernous sinus fed by dural branches of both carotid siphons, by recurrent branches of the left ophthalmic artery (LOA) and by dural branches of the left external carotid artery. Twenty-four hours after arterial embolisation with polyvinyl alcohol particles, the patient suffered visual loss in the left eye. All feeders were embolized except the recurrent branches of the LOA, which became hypertrophied. Fluorescein angiography of the retina was normal. Transocular Doppler ultrasound showed a turbulent, inverted, low resistance flow in the LOA distal part, and a high resistance anterograde flow in the left central artery of the retina, which accounted for an ischemic optic neuropathy. CONCLUSIONS: The ischemic optic neuropathy resulted from a vascular steal phenomenon. Hypertrophy of recurrent branches of the LOA, after embolization of the remaining feeders, contributed to a low resistance shunt between the LOA proximal part and the left cavernous sinus. This shunt caused the inversion of flow in the distal part of the artery and the subsequent decrease of retrobulbar blood supply.


Assuntos
Malformações Vasculares do Sistema Nervoso Central/terapia , Embolização Terapêutica/efeitos adversos , Neuropatia Óptica Isquêmica/etiologia , Feminino , Humanos , Pessoa de Meia-Idade
11.
Rev. neurol. (Ed. impr.) ; 37(11): 1032-1034, 1 dic., 2003. ilus
Artigo em Espanhol | IBECS | ID: ibc-128652

RESUMO

Caso clínico. Paciente de 46 años, con una fístula arteriovenosa dural del seno cavernoso izquierdo, alimentada por ramificaciones durales de los dos sifones carotídeos, por ramificaciones recurrentes de la región proximal de la arteria oftálmica izquierda (AOI) y por ramificaciones de la arteria carótida externa homolateral. Después de 24 horas desde la embolización arterial con partículas de polivinil alcohol, sufrió un déficit visual del ojo izquierdo. Todos los pedículos alimentadores de la fístula se embolizaron, excepto las ramificaciones de la AOI, que se hipertrofiaron tras la embolización de las restantes. A pesar de la normalidad de la angiografía fluoresceínica retiniana, la ecografía Doppler transocular mostró un flujo turbulento, invertido y de baja resistencia en la región distal de la AOI, y un flujo anterógrado de alta resistencia en la arteria central de la retina homolateral, lo cual justifica una neuropatía óptica isquémica. Conclusiones. La neuropatía óptica isquémica se produjo como consecuencia de un fenómeno de robo vascular. La hipertrofia de las ramificaciones de la región proximal de la AOI, tras la embolización de los restantes pedículos alimentadores de la fístula, contribuyó en una comunicación de baja resistencia entre la región proximal de la arteria oftálmica y el seno cavernoso izquierdo, y causó la inversión del flujo en el tramo distal de la mencionada arteria y la consecuente disminución de la irrigación sanguínea retrobulbar (AU)


Case report. We report the case of a 46-year-old patient, with a dural arteriovenous fistula in the left cavernous sinus fed by dural branches of both carotid siphons, by recurrent branches of the left ophthalmic artery (LOA) and by dural branches of the left external carotid artery. Twenty-four hours after arterial embolization with polyvinyl alcohol particles, the patient suffered visual loss in the left eye. All feeders were embolized except the recurrent branches of the LOA, which became hypertrophied. Fluorescein angiography of the retina was normal. Transocular Doppler ultrasound showed a turbulent, inverted, low resistance flow in the LOA distal part, and a high resistance anterograde flow in the left central artery of the retina, which accounted for an ischemic optic neuropathy. Conclusions. The ischemic optic neuropathy resulted from a vascular steal phenomenon. Hypertrophy of recurrent branches of the LOA, after embolization of the remaining feeders, contributed to a low resistance shunt between the LOA proximal part and the left cavernous sinus. This shunt caused the inversion of flow in the distal part of the artery and the subsequent decrease of retrobulbar blood supply (AU)


Assuntos
Humanos , Masculino , Feminino , Neuropatia Óptica Isquêmica/epidemiologia , Fístula Arteriovenosa/complicações , Transtornos da Visão , Artéria Oftálmica/anormalidades , Seio Cavernoso/anormalidades
12.
Arch Oral Biol ; 48(7): 503-9, 2003 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12798153

RESUMO

The objective of the present prospective trial was to compare the efficacy of differently concentrated chlorhexidine varnishes (EC40) = 40% chlorhexidine and Cervitec = 1% chlorhexidine + 0.1% thymol) on levels of Mutans streptococci (ms), lactobacilli (lb) and plaque formation in interproximal plaque and saliva. Twenty-four volunteers with a high level of ms in saliva were randomized into two groups and treated with the experimental varnishes. Varnish applications were performed in accordance with literature. Over a period of 2 weeks Cervitec was applied three times and EC40 once or twice, depending on ms counts after first application. Four and 12 weeks after final varnish application ms in plaque and saliva were evaluated. Furthermore, lactobacilli (lb) counts in saliva and the effect on plaque formation were recorded. Both varnishes revealed a reduction of ms in interproximal plaque and saliva after 4 and 12 weeks. The highly concentrated varnish revealed a significantly stronger reduction of ms in plaque and saliva compared with the lowly-concentrated varnish. No effect could be demonstrated on lb counts and plaque formation. The results indicate that the chlorhexidine varnishes tested may reduce ms in both interproximal plaque and saliva. However, the application of the highly concentrated varnish EC40 results in a higher decrease of ms in plaque sites and saliva.


Assuntos
Anti-Infecciosos Locais/administração & dosagem , Clorexidina/administração & dosagem , Placa Dentária/prevenção & controle , Lactobacillus/efeitos dos fármacos , Streptococcus mutans/efeitos dos fármacos , Timol/administração & dosagem , Adulto , Anti-Infecciosos Locais/uso terapêutico , Clorexidina/uso terapêutico , Contagem de Colônia Microbiana , Placa Dentária/microbiologia , Relação Dose-Resposta a Droga , Combinação de Medicamentos , Humanos , Lactobacillus/isolamento & purificação , Pintura , Estudos Prospectivos , Saliva/microbiologia , Streptococcus mutans/isolamento & purificação , Timol/uso terapêutico
13.
Arch Neurol ; 59(4): 623-9, 2002 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11939898

RESUMO

BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely understood. OBJECTIVE: To examine the clinical and molecular characteristics of a large group of Portuguese and Brazilian families with ataxia to improve knowledge of the molecular diagnosis of SCA. PATIENTS AND METHODS: We have (1) assessed repeat sizes at all known TNR loci implicated in SCA; (2) determined frequency distributions of normal alleles and expansions; and (3) looked at genotype-phenotype correlations in 202 unrelated Portuguese and Brazilian patients with SCA. Molecular analysis of TNR expansions was performed using polymerase chain reaction amplification. RESULTS: Patients from 110 unrelated families with SCA showed TNR expansions at 1 of the loci studied. Dominantly transmitted cases had (CAG)(n) expansions at the Machado-Joseph disease gene (MJD1) (63%), at SCA2 (3%), the gene for dentatorubropallidoluysian atrophy (DRPLA) (2%), SCA6 (1%), or SCA7 (1%) loci, or (CTG)(n) expansions at the SCA8 (2%) gene, whereas (GAA)(n) expansions in the Freidreich ataxia gene (FRDA) were found in 64% of families with recessive ataxia. Isolated patients also had TNR expansions at the MJD1 (6%), SCA8 (6%), or FRDA (8%) genes; in addition, an expanded allele at the TATA-binding protein gene (TBP), with 43 CAGs, was present in a patient with ataxia and mental deterioration. Associations between frequencies of SCA2 and SCA6 and a frequency of large normal alleles were found in Portuguese and Brazilian individuals, respectively. Interestingly, no association between the frequencies of DRPLA and large normal alleles was found in the Portuguese group. CONCLUSIONS: Our results show that (1) a significant number of isolated cases of ataxia are due to TNR expansions; (2) expanded DRPLA alleles in Portuguese families may have evolved from an ancestral haplotype; and (3) small (CAG)(n) expansions at the TBP gene may cause SCA17.


Assuntos
Proteínas do Tecido Nervoso/genética , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos , Adenina/metabolismo , Adulto , Idoso , Alelos , Brasil , Citosina/metabolismo , Feminino , Guanina/metabolismo , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/metabolismo , Reação em Cadeia da Polimerase , Portugal
14.
Rev. neurol. (Ed. impr.) ; 33(8): 732-734, 16 oct., 2001.
Artigo em Es | IBECS | ID: ibc-27247

RESUMO

Introducción. Las cefaleas en racimos son poco frecuentes en la edad pediátrica. Encontramos, referidos en la literatura y definidos según los criterios de la International Headache Society, apenas 64 casos de inicio en edades inferiores a los 18 años (de ellos, apenas 17 casos se iniciaron antes de los 10 años de edad). Los factores hereditarios implicados en la génesis de esta patología fueron recientemente demostrados por Russel et al. Según estos autores, cerca del 7 por ciento de las cefaleas en racimos en el sexo femenino y el 3 por ciento en el sexo masculino tenían origen en factores genéticos (transmisión autosómica dominante de penetrancia variable). Caso clínico. Los autores describen el caso clínico de una niña con cefalea en racimos seguida en la Consulta de Neuropediatría, diagnosticada a los 3 años de edad y con sintomatología con 22 meses de evolución. Se discuten los diagnósticos diferenciales y las opciones terapéuticas disponibles para la edad pediátrica (AU)


Assuntos
Pré-Escolar , Criança , Masculino , Feminino , Humanos , Cefaleia Histamínica , Analgésicos não Narcóticos , Periodicidade , Bloqueadores dos Canais de Cálcio , Diagnóstico Diferencial , Acetaminofen , Flunarizina
15.
Rev Neurol ; 33(8): 732-5, 2001.
Artigo em Espanhol | MEDLINE | ID: mdl-11784969

RESUMO

INTRODUCTION: Cluster headache is a rare disorder in childhood. We identified, in the literature, 64 cases of cluster headache starting at or before 18 years (only 17 of them began before 10 years old). All patients met the criteria of the International Headache Society. Russell et al demonstrated recently that the cluster headache is an inherited disorder in some families. They conclude that the gene is present in 3 to 4% of males and 7 to 10% of females with cluster headache and that it has an autossomal dominant transmission. CLINICAL CASE: The authors report the clinical case of a five year old child with cluster headache starting at three years. This paper reviews the differential diagnosis and the treatment of cluster headache.


Assuntos
Cefaleia Histamínica , Acetaminofen/uso terapêutico , Analgésicos não Narcóticos/uso terapêutico , Bloqueadores dos Canais de Cálcio/uso terapêutico , Criança , Pré-Escolar , Cefaleia Histamínica/diagnóstico , Cefaleia Histamínica/tratamento farmacológico , Cefaleia Histamínica/genética , Cefaleia Histamínica/fisiopatologia , Diagnóstico Diferencial , Feminino , Flunarizina/uso terapêutico , Humanos , Masculino , Periodicidade
17.
Am J Hum Genet ; 66(3): 830-40, 2000 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10712199

RESUMO

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. Recently, an untranslated (CTG)n expansion on chromosome 13q was described as being the cause of SCA8. We have now (1) assessed the repeat size in a group of patients with ataxia and a large number of controls, (2) examined the intergenerational transmission of the repeat, and (3) estimated the instability of repeat size in the sperm of one patient and two healthy controls. Normal SCA8 chromosomes showed an apparently trimodal distribution, with classes of small (15-21 CTGs), intermediate (22-37 CTGs), and large (40-91 CTGs) alleles; large alleles accounted for only0.7% of all normal-size alleles. No expanded alleles (>/=100 CTGs) were found in controls. Expansion of the CTG tract was found in five families with ataxia; expanded alleles (all paternally transmitted) were characterized mostly by repeat-size contraction. There was a high germinal instability of both expanded and normal alleles: in one patient, the expanded allele (152 CTGs) had mostly contraction in size (often into the normal range); in the sperm of two normal controls, contractions were also more frequent, but occasional expansions into the upper limit of the normal size range were also seen. In conclusion, our results show (1) no overlapping between control (15-91) and pathogenic (100-152) alleles and (2) a high instability in spermatogenesis (both for expanded and normal alleles), suggesting a high mutational rate at the SCA8 locus.


Assuntos
Alelos , Espermatozoides/metabolismo , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Idade de Início , Idoso , Criança , Pré-Escolar , Feminino , Frequência do Gene/genética , Aconselhamento Genético , Variação Genética/genética , Haplótipos , Humanos , Masculino , Meiose/genética , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Mitose/genética , Mutagênese/genética , Linhagem , Penetrância , Espermatogênese/genética , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/fisiopatologia
18.
Chest ; 114(1): 160-5, 1998 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9674464

RESUMO

STUDY OBJECTIVE: To evaluate the role of intrapleural fibrinolytic treatment (IPFT) in traumatic clotted hemothorax. DESIGN AND PATIENTS: Between August 1995 and February 1997, 24 patients with traumatic clotted hemothorax were included. Streptokinase (SK), 250,000 IU, or urokinase (UK), 100,000 IU, diluted in 100 mL of saline solution was given daily. We administered 5.0+/-1.8 (range, 2 to 9) doses of SK or 6.25+/-5.97 (range, 2 to 15) doses of UK. SETTING: Dicle University School of Medicine, Thoracic and Cardiovascular Surgery Department. RESULTS: Complete response, which was defined as resolution of symptoms with complete drainage of fluid and no residual space radiographically, occurred in 15 (62.5%) patients. Partial response, which was defined as resolution of symptoms with a small pleural cavity, occurred in seven (29.2%) patients. Two patients (8.3%) required decortication; they were defined as nonresponders. The mean period of time between the diagnosis and fibrinolytic treatment (FT) was 11.65+/-6.38 (range, 4 to 25) days. There were no complications related to IPFT. There was no mortality during the course of IPFT. CONCLUSION: The use of intrapleural fibrinolytic agents has resulted in resolution of clotted hemothorax with an overall success rate of 91.7%. We recommend that IPFT should be added to the algorithm for management of clotted hemothorax before proceeding with minithoracotomy or pleural decortication.


Assuntos
Fibrinolíticos/uso terapêutico , Hemotórax/tratamento farmacológico , Traumatismos Torácicos/complicações , Terapia Trombolítica , Trombose/tratamento farmacológico , Adolescente , Adulto , Algoritmos , Criança , Drenagem , Estudos de Avaliação como Assunto , Feminino , Fibrinolíticos/administração & dosagem , Seguimentos , Hemotórax/etiologia , Humanos , Injeções , Masculino , Microcirurgia , Pessoa de Meia-Idade , Ativadores de Plasminogênio/administração & dosagem , Ativadores de Plasminogênio/uso terapêutico , Pleura/cirurgia , Indução de Remissão , Estreptoquinase/administração & dosagem , Estreptoquinase/uso terapêutico , Toracotomia , Trombose/etiologia , Fatores de Tempo , Resultado do Tratamento , Ativador de Plasminogênio Tipo Uroquinase/administração & dosagem , Ativador de Plasminogênio Tipo Uroquinase/uso terapêutico
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