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2.
Mov Disord Clin Pract ; 11(1): 45-52, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38291837

RESUMO

BACKGROUND: RFC1-related disorder (RFC1/CANVAS) shares clinical features with other late-onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA-C). Thinning of cranial nerves V (CNV) and VIII (CNVIII) has been reported in magnetic resonance imaging (MRI) scans of RFC1/CANVAS, but its specificity remains unclear. OBJECTIVES: To assess the usefulness of CNV and CNVIII thinning to differentiate RFC1/CANVAS from SCA and MSA-C. METHODS: Seventeen individuals with RFC1/CANVAS, 57 with SCA (types 2, 3 and 6), 11 with MSA-C and 15 healthy controls were enrolled. The Balanced Fast Field Echo sequence was used for assessment of cranial nerves. Images were reviewed by a neuroradiologist, who classified these nerves as atrophic or normal, and subsequently the CNV was segmented manually by an experienced neurologist. Both assessments were blinded to patient and clinical data. Non-parametric tests were used to assess between-group comparisons. RESULTS: Atrophy of CNV and CNVIII, both alone and in combination, was significantly more frequent in the RFC1/CANVAS group than in healthy controls and all other ataxia groups. Atrophy of CNV had the highest sensitivity (82%) and combined CNV and CNVIII atrophy had the best specificity (92%) for diagnosing RFC1/CANVAS. In the quantitative analyses, CNV was significantly thinner in the RFC1/CANVAS group relative to all other groups. The cutoff CNV diameter that best identified RFC1/CANVAS was ≤2.2 mm (AUC = 0.91; sensitivity 88.2%, specificity 95.6%). CONCLUSION: MRI evaluation of CNV and CNVIII using a dedicated sequence is an easy-to-use tool that helps to distinguish RFC1/CANVAS from SCA and MSA-C.


Assuntos
Atrofia de Múltiplos Sistemas , Ataxias Espinocerebelares , Humanos , Ataxia/patologia , Atrofia/patologia , Cerebelo/patologia , Nervos Cranianos/patologia , Atrofia de Múltiplos Sistemas/diagnóstico , Ataxias Espinocerebelares/diagnóstico
5.
Parkinsonism Relat Disord ; 115: 105854, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37729670

RESUMO

INTRODUCTION: Parkinsonism is now recognized as an additional feature in RFC1/CANVAS syndrome; however, no systematic evaluation of nigrostriatal dopaminergic function has been published so far. METHODS: This is an observational, single-center study, which analyzed 13 patients with molecular confirmation of RFC1/CANVAS. Disease severity was assessed with the SARA scale. Each subject was carefully evaluated for the presence of parkinsonian features. Dopamine transporter (DAT) imaging was acquired and reconstructed in the transverse, coronal and sagittal planes 4 h after venous injection of 99mTc-TRODAT-1. An experienced nuclear physician performed the visual analysis of all images. RESULTS: Patients had a mean age of 62.3 ± 8.8 years, and there were 9 women. The mean SARA score was 15.5 ± 5.8. Nine patients had abnormal DAT imaging results. The putamen was more frequently affected than the caudate nucleus on both sides. Considering all regions, uptake of 99mTc-TRODAT-1 did not correlate with disease duration or SARA scores. Parkinsonism was noticed in 3/13 patients, all of which had abnormal DAT scans. Interestingly, six subjects had reduced DAT imaging uptake, but no clinical signs of parkinsonism. CONCLUSION: Nigrostriatal dysfunction is frequent in RFC1/CANVAS even in the absence of clinical parkinsonism and may occur early in the disease course.

18.
An Acad Bras Cienc ; 94(4): e20201914, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36102391

RESUMO

Fibrinolytic enzymes are considered promising alternative in the treatment of cardiovascular diseases by preventing fibrin clots. A protease from Mucor subtilissimus UCP 1262 was obtained by solid state fermentation and purified by ion exchange chromatography. The purified extract was administered at an acute dose of 2000 mg/mL to evaluate its toxic effects to the lungs of mice. After 14 days of treatment, a histomorphometric study was performed by the type 1 and 2 pneumocyte count and the evaluation of the lung area. As result, the experimental group showed a significant decrease of type 2 pneumocyte and although a decrease in the alveolar area was observed in relation to the control group, no significant pulmonary toxicity, emphysema, and fibrosis characteristics were detected. The in vitro tests suggest possible clinical applications for the enzyme.


Assuntos
Pulmão , Peptídeo Hidrolases , Animais , Camundongos , Peptídeo Hidrolases/química
20.
Braz J Biol ; 84: e259131, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35674597

RESUMO

Scolytinae species that, in high populations, can damage reducing wood production in forest crops. These beetles are monitored with traps baited with ethanol and increasing their efficiency can improve the integrated management of these insects. The objective was to evaluate the increase in the capture efficiency of Scolytinae with a semi-funnel trap model, in two experiments, one including wooden elements and other increasing the flight interception area and to correlate the numbers of these beetles collected with climatic factors. In the experiment 1, Eucalyptus urophylla S. T. Blake slats were directly attached to the collector flask and in another treatment, in addition to these slats, Cedrela sp. strips were inserted inside the bait holding hose. In the experiment 2, the insect interception area in the trap, originally 480 cm2, was expanded to 1,200 cm2 and compared with the model Pet-Santa Maria trap with an interception area of 550 cm2. Weekly collections were carried out between May 2018 and June 2019. The beetles collected were taken to the Wood Biodeterioration Laboratory of the Federal Rural University of Rio de Janeiro (UFRRJ) where they were sorted, identified at family level, counted and their number correlated with climatic factors. Statistical analyzes of the collected data were processed by the BioStat® 5.3 program. In the experiment 1 were collected 869 Scolytinae. The numbers of beetles collected per trap without modification, with E. urophylla slats and E. urophylla slats + Cedrela sp. strips were similar, 7.3 ± 3.8, 7.8 ± 6.2 and 7.7 ± 5.0 respectively. In the experiment 2 were collected 4,398 Scolytinae. Increasing the interception area of the beetles increased the efficiency of the semi-funnel trap, with 42.7 ± 20.5 Scolytinae collected compared to the original semi-funnel trap, 28.6 ± 12.6 and the Pet-Santa Maria, 20.4 ± 10.4, per trap. The number of Scolytinae did not correlate with climatic factors in the experiment 1 and it was correlated with temperature, relative humidity and wind speed, but not with precipitation, in the 2. The incorporation of E. urophylla slats or Cedrela sp. strips in the semi-funnel trap did not increase the number of beetles collected, but, the increase in the flight interception area and the temperature, relative humidity and wind speed were correlated with the number of beetles collected.


Assuntos
Besouros , Eucalyptus , Gorgulhos , Animais , Controle de Insetos , Temperatura
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