10 research outputs found
Commentary: Anderson-Fabry Disease: A Rare Cause of Levodopa-Responsive Early Onset Parkinsonism
This case had young onset parkinsonism beginning at age 45 mainly affecting the right side with foot dystonia and limb pain as an early and prominent feature.1 There was a family history of renal disease in one sister, stroke like episodes and dementia in another sister, and ischemic cardiac disease in the father. Single-photon emission computed tomography of the dopamine transporter showed bilateral reduced uptake and there was a good levodopa response and later development non-motor fluctuations. Although a number of parkinsonian conditions particularly genetic forms of young onset parkinsonism are in the differential, the patient also showed signs of renal (microalbuminuria) and cardiac (left ventricular hypertrophy) dysfunction which further narrowed the differential to conditions such as mitochondrial disease and neuronal inclusion body disease (though brain MRI did not show characteristic white matter changes). Given the severity of pain and renal involvement, Anderson-Fabry was considered as the most likely diagnosis. This x-linked lysosomal storage disease is caused by absent or minimal enzymatic activity of α-galactosidase and usually affects males in whom its fully penetrant but has been described rarely also to affect women.2 It is important to recognize this condition given the availability of treatment with enzyme replacement therapy (agalsidase alfa). The list of genetic parkinsonian conditions is increasing.2 Involvement of non-neurologic organ systems in patient or family members may offer clues to diagnosis. Anderson-Fabry disease specifically must be kept in mind in anyone with young onset parkinsoni
Computer vision quantification of whole-body Parkinsonian bradykinesia using a large multi-site population.
Parkinson's disease (PD) is a common neurological disorder, with bradykinesia being one of its cardinal features. Objective quantification of bradykinesia using computer vision has the potential to standardise decision-making, for patient treatment and clinical trials, while facilitating remote assessment. We utilised a dataset of part-3 MDS-UPDRS motor assessments, collected at four independent clinical and one research sites on two continents, to build computer-vision-based models capable of inferring the correct severity rating robustly and consistently across all identifiable subgroups of patients. These results contrast with previous work limited by small sample sizes and small numbers of sites. Our bradykinesia estimation corresponded well with clinician ratings (interclass correlation 0.74). This agreement was consistent across four clinical sites. This result demonstrates how such technology can be successfully deployed into existing clinical workflows, with consumer-grade smartphone or tablet devices, adding minimal equipment cost and time
Commentary: Anderson-Fabry Disease: A Rare Cause of Levodopa-Responsive Early Onset Parkinsonism
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VERTICAL VARIATIONS IN THE PRINCIPLE CHEMICAL-PROPERTIES OF THE BLACK-SEA IN THE AUTUMN OF 1991
Basin-wide principal hydrochemical data for the upper 500 m of the Black Sea were obtained at a total of 197 stations during a multi-ship, multi-institutional, HYDROBLACK-91 cruise in September 1991. Only offshore stations, 38 from the 1991 joint cruise, 5 from R/V Knorr (1988),16 from R/V Atlantis-II (1969), and 9 from R/V Bilim (1990) cruises, are considered in conjunction with the present and past data as a function of potential density rather than depth. The oxycline, coinciding with the upper boundary of the permanent pycnocline (sigma(THETA) = 14.2-14.3), extended down to the sigma(THETA) = 15.3-15.4 surfaces during warm periods (June-September) and to the sigma(THETA) = 15.75 surface during spring periods. The lower boundary of the oxycline (O2 less-than-or-equal-to 20 muM) has remained constant within the last two decades when past and present spring data are considered, but has risen by 0.30 density units when late summer-autumn data are considered. Independent of the geographical location, the base of the transition layer was established at the sigma(THETA) = 16.15-16.20 surfaces where H2S greater-than-or-equal-to 5 muM. Nitrate and phosphate reached their maxima at sigma(THETA) = 15.3-15.4 surfaces and then decreased steadily with different slopes until the sigma(THETA) = 15.85-15.95 surfaces. At the anoxic interface, phosphate concentration increases about 10 fold from approximately 0.02-0.5 muM at the sigma(THETA) = 15.85-15.90 surface to 4-6 muM at the sigma(THETA) = 16.15-16.20 surface. Comparison with the data from the 1970's suggests that both the maximum values and the depth integrated mass of nitrate (g NO3-N/m2) between the sigma(THETA) = 14.2 and 16.0 surfaces have increased 2-3 fold, and the density surface where the NO3 maximum is established has shifted by 0.30 units in the late 1980's