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1.
Rheumatol Int ; 33(10): 2523-7, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23604731

RESUMO

The aim of this multicentre study is to investigate the incidence and risk factors for falls in ambulatory rheumatoid arthritis (RA) patients. One hundred and eighty-five ambulatory RA patients who have been followed up in 3 different centres were included in study. Patients were a part of Turkish League Against Rheumatism-Follow-up Program. All patients were evaluated at the baseline in terms of demographic features, falls history in the last year, disease-specific characteristics and co-morbidities. Functional status was evaluated by chair stand test with five repetitions and heel-toe walking. Erythrocyte sedimentation rate and CRP values were measured. Study patients were followed by the three monthly visits during a year. Patients were asked to fill the fall diary and/or call the doctor when a fall happens. The features of falls were recorded to the files at the time of the fall. The mean age was 56.7 ± 11.4 years. Four patients were drop out the study. Thirty-four patients fell and 2 had fractures during 1 year. Falls were found to be correlated with age, visual analogue score for pain, previous falls, use of assistive devices for ambulation, use of two or more medications and ability to do heel-toe walking. In the multivariate regression analysis, previous falls and use of assistive device for ambulation were found to be independent risk factors for falls (p = 0.004 OR 3.3 95 % CI 1.5-7.4, p = 0.001 OR 6.2 95 % CI 2-19.1). Fall history in the last year and using an assistive ambulation device are the predictors of the falls.


Assuntos
Acidentes por Quedas/estatística & dados numéricos , Artrite Reumatoide/fisiopatologia , Marcha/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Incidência , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco
2.
Analyst ; 135(8): 1918-25, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20532304

RESUMO

A novel visualization methodology based on the use of immunofluorescence and Confocal Laser Scanning Microscopy (CLSM) was used to quantify and visualize tyrosinase enzyme within a MWCNTs matrix immobilized onto carbon based screen-printed electrodes. CLSM was shown to be an extremely powerful technique which allowed a clear visualization of the distribution of the enzyme within both the MWCNTs and carbon based layers and provided additional and useful morphological data for a better understanding of the interaction between biomolecules and electrode materials. Transmission Electron Microscopy (TEM) and Scanning Electron Microscopy (SEM) were also employed to fully characterize the system components. The proposed MWCNT/Tyrosinase matrix was applied to the detection of phenol, as an alternative biosensor material. Electrochemical analytical performances of the biosensor were investigated in order to determine the optimal fabrication design along with the enzyme stability. The biosensor based on the developed biomaterial matrix proved promising results in terms of cost, simplicity and analytical performance. A detection limit of 1.35 microM and a sensitivity of 47.4 microA mM(-1) within a linear response range of 2.5 to 75 microM phenol were obtained. The biosensor performed well as a disposable device and could be stored in a refrigerator (-18 degrees C) without loss of activity for up to 2 months.


Assuntos
Eletroquímica/métodos , Imunofluorescência/métodos , Microscopia Confocal/métodos , Monofenol Mono-Oxigenase/química , Nanotubos de Carbono/química , Fenóis/análise , Técnicas Biossensoriais , Eletrodos , Estrutura Molecular , Monofenol Mono-Oxigenase/metabolismo
3.
J Clin Neurosci ; 82(Pt B): 214-218, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33246910

RESUMO

Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive spasticity and weakness in the lower limbs and corpus callosum agenesis. We report on two siblings in a consanguineous family, presenting both the clinical and molecular diagnoses of MPSIIIB and SPG54 with novel mutations by using whole exome sequencing (WES). This interesting finding shows that we should be aware of the importance of using WES for diagnosing rare diseases in consanguineous families.


Assuntos
Acetilglucosaminidase/genética , Mucopolissacaridose III/genética , Paraplegia/genética , Agenesia do Corpo Caloso , Feminino , Homozigoto , Humanos , Mutação , Fosfolipases/genética , Sequenciamento do Exoma
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