194 research outputs found

    Brain White Matter Involvement in Hereditary Spastic Paraplegias: Analysis with Multiple Diffusion Tensor Indices

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    BACKGROUND AND PURPOSE: The hereditary spastic paraplegias are a group of genetically heterogeneous neurodegenerative disorders, characterized by progressive spasticity and weakness of the lower limbs. Although conventional brain MR imaging findings are normal in patients with pure hereditary spastic paraplegia, microstructural alteration in the cerebral WM can be revealed with DTI. Concomitant investigation of multiple intrinsic diffusivities may shed light on the neurobiologic substrate of the WM degeneration pattern in patients with pure hereditary spastic paraplegia across the whole brain. MATERIALS AND METHODS: Tract-based spatial statistics analysis was performed to compare fractional anisotropy and mean, axial, and radial diffusivities of the WM skeleton in a group of 12 patients with pure hereditary spastic paraplegia and 12 healthy volunteers. Data were analyzed counting age and sex as nuisance covariates. The threshold-free cluster-enhancement option was applied, and the family-wise error rate was controlled by using permutation tests for nonparametric statistics. RESULTS: In pure hereditary spastic paraplegia, group widespread fractional anisotropy decreases and radial diffusivity and mean diffusivity increases ( P CONCLUSIONS: In patients with pure hereditary spastic paraplegia, alterations in multiple DTI indices were found. Radial diffusivity seems more sensitive to hereditary spastic paraplegia–related WM pathology and, in line with the lack of axial diffusivity changes, might indicate a widespread loss of myelin integrity. A decrease of fractional anisotropy alone in the frontal circuitry may reflect subtle disruption of the frontal connections

    Trends observed in bilateral cerebral palsy during a thirty-year period: A cohort study with an ICF-based overview.

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    Background To describe trends observed across thirty years in demographic and clinical characteristics and rehabilitation of patients with bilateral cerebral palsy. Methods This retrospective study includes 464 (261 M and 203 F) inpatients with bilateral cerebral palsy, born from 1967 to 1997 and discharged from an outpatient rehabilitative facility from 1985 to 2015. Data concerning the health profile were collected from medical reports and organized in the domains of Body Functions and Structure; Activity and participation and Personal and Environmental factors as proposed in the International Classification of Functioning Disability and Health (ICF). The trend observed over the three birth decades was discussed. Results The duration of the rehabilitative treatment decreased across decades approximately by two years per decade (from an initial 16.2 yrs to 12.3 yrs). Across the decades the rate of quadriplegia decreased, whereas rates of diplegia increased; spasticity was the prevalent observed motor type for all decades. The most frequent musculoskeletal disorder involved the middle inferior part of the body; among comorbidities a steady decrease in psychiatric disorders was found. With respect to the first decade a slight improvement was observed in the gross motor functioning and in the hand dexterity. No particular trend was observed concerning communication abilities. An increase in the use of pharmacological and surgical treatments for motor symptoms was observed. Conclusion This study presents and describes the functioning of a large sample of Italian patients with bilateral CP on the basis of the ICF framework and it discussed the trend observed across decades

    Free Mg(2+ )concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by (31)P MRS

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    BACKGROUND: The increase in cytosolic free Mg(2+ )occurring during exercise and initial recovery in human skeletal muscle is matched by a decrease in cytosolic pH as shown by in vivo phosphorus magnetic resonance spectroscopy ((31)P MRS). To investigate in vivo to what extent the homeostasis of intracellular free Mg(2+ )is linked to pH in human skeletal muscle, we studied patients with metabolic myopathies due to different disorders of glycogen metabolism that share a lack of intracellular acidification during muscle exercise. METHODS: We assessed by (31)P MRS the cytosolic pH and free magnesium concentration ([Mg(2+)]) in calf muscle during exercise and post-exercise recovery in two patients with McArdle's disease with muscle glycogen phosphorylase deficiency (McArdle), and two brothers both affected by Tarui's disease with muscle phosphofructokinase deficiency (PFK). RESULTS: All patients displayed a lack of intracellular acidosis during muscle exercise. At rest only one PFK patient showed a [Mg(2+)] higher than the value found in control subjects. During exercise and recovery the McArdle patients did not show any significant change in free [Mg(2+)], while both PFK patients showed decreased free [Mg(2+)] and a remarkable accumulation of phosphomonoesters (PME). During initial recovery both McArdle patients showed a small increase in free [Mg(2+)] while in PFK patients the pattern of free [Mg(2+)] was related to the rate of PME recovery. CONCLUSION: i) homeostasis of free [Mg(2+)] in human skeletal muscle is strongly linked to pH as shown by patients' [Mg(2+)] pattern during exercise; ii) the pattern of [Mg(2+)] during exercise and post-exercise recovery in both PFK patients suggests that [Mg(2+)] is influenced by the accumulation of the phosphorylated monosaccharide intermediates of glycogenolysis, as shown by the increased PME peak signal. iii) (31)P MRS is a suitable tool for the in vivo assessment of free cytosolic [Mg(2+)] in human skeletal muscle in different metabolic conditions

    Automated ICF Coding of Rehabilitation Notes for Low-Resource Languages via Continual Training of Language Models

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    : The coding of medical documents and in particular of rehabilitation notes using the International Classification of Functioning, Disability and Health (ICF) is a difficult task showing low agreement among experts. Such difficulty is mainly caused by the specific terminology that needs to be used for the task. In this paper, we address the task developing a model based on a large language model, BERT. By leveraging continual training of such a model using ICF textual descriptions, we are able to effectively encode rehabilitation notes expressed in Italian, an under-resourced language

    The International Classification of Functioning Disability and Health, version for children and youth as a roadmap for projecting and programming rehabilitation in a neuropaediatric hospital unit.

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    Objective To test the impact of introducing a format based on the International Classification of Functioning Disability and Health, version for children and youth (ICF-CY) as a road-map for in-hospital paediatric neuro-rehabilitation on target definition, intra-team communication and workload as perceived by involved professionals. Design Single-centre pilot testing with impact assessment. Patients Team members of a tertiary care paediatric neurorehabilitation unit included 15 consecutive patients with severe neurological conditions. Methods An ICF-CY based format for rehabilitation projection and programming was constructed and tested for 12 months. The format comprises 3 sections: project, programme, and follow-up. Impact on the rehabilitation team was assessed with a questionnaire. Results All cases were described according to their specific needs with appropriate ICF-CY codes, and the interventions were linked to needs and targets. ICF-CY was judged an efficient tool in providing a road-map for rehabilitation in this setting, although concern was voiced about timing and workload. Conclusion ICF-CY may work as a road-map for in-hospital paediatric neuro-rehabilitation. Its implementation results in perceived improvements in the process. Training requirements and accurate evaluation of timing, workload and organizational context are critical issues that should be addressed before results from the present experience are generalized

    A Population Survey in Italy Based on the ICF Classification: Recognizing Persons with Severe Disability

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    Aim of this paper is to describe functioning of subjects with “severe disability” collected with a protocol based on the International Classification of Functioning, Disability, and Health. It included sections on body functions and structures (BF and BS), activities and participation (A&P), and environmental factors (EF). In A&P, performance without personal support (WPS) was added to standard capacity and performance. Persons with severe disability were those reporting a number of very severe/complete problems in BF or in A&P-capacity superior to mean + 1SD. Correlations between BF and A&P and differences between capacity, performance-WPS, and performance were assessed with Spearman's coefficient. Out of 1051, 200 subjects were considered as severely disabled. Mild to moderate correlations between BF and A&P were reported (between 0.148 and 0.394 when the full range of impairments/limitations was taken into account; between 0.198 and 0.285 when only the severe impairments/limitations were taken into account); performance-WPS was less similar to performance than to capacity. Our approach enabled identifying subjects with “severe disability” and separating the effect of personal support from that of devices, policies, and service provision

    Holdridge Life Zone Map Republic of Argentina

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    Ecological zonation is a fundamental tool for territorial and ecosystem management. The Holdridge model is a system of ecological zoning based on the identification of bioclimatic units (life zones)that employs the variables of biotemperature, precipitation, potential evapotranspiration (EVT), EVT/P ratio, latitude, and altitude. Argentina displaysa high environmental variability. However, despite the completion of several comprehensive zonationsof intrinsicscientific value, the countrylacksanecological zonation withobjectively and precisely delimitedunits that may be repeated throughtime.The objective of this study was to identify and map the Holdridge life zones present in Argentina. Available climatic data wereintegrated at 1 km spatial resolution.The applied model revealed a highenvironmental heterogeneity, with a total of 83 life zones. Ofthis total, 72 corresponded to life zones in the original triangular model of 120 life zones described by Holdridge,and 11 were new life zones,extending the original model to a total of 131.The model recognized fivelatitudinal regions, from boreal to tropical,and sevenaltitudinal belts, from basal to nival.NorthwestArgentina contained the highest concentration of life zones.The life zones with the most geographic extent are Warm Temperate Dry Forest (15 percent of the nation)and Subtropical Dry Forest (9 percent), while Warm Temperate Alpine Wet Tundra and Subtropical Alpine WetTundra covered less than 0.1 percent.A wide range of biotemperatures, precipitation levels, and elevations,and their diverse combinations, explainwhy so manylife zones are present. Several factors influence climatic systems operating in Argentina,including itsgeographiclocation andnorth-south latitudinal extension (from about 21° to 55° S); the presence and characteristics of different portions of the Cordillera de los Andes (which reach elevations of up to 7000 m above sea level) in the west; the eastern lowlands; and the circumpolar oceanic current and related currents in the southern Pacific and southern AtlanticOceans.Application of the Holdridge system to Argentina resulted in an objective, detailed, and precise country bioclimatic zonation that highlights its environmental heterogeneity,which supports natural ecosystems, cultivated species,agriculture, forestry, and livestock production.This assessment can serve as a useful tool for evaluating the spatial evolution of climate change, land management and other socio-cultural aspects, biodiversity conservation, and other objectives.Fil: Derguy, María Rosa. Universidad Nacional de Avellaneda. Departamento de Ciencias Ambientales; Argentina. Universidad Nacional de la Plata. Facultad de Ciencias Agrarias y Forestales. Laboratorio de Investigacion de Sistemas Ecologicos y Ambientales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Frangi, Jorge Luis. Universidad Nacional de la Plata. Facultad de Ciencias Agrarias y Forestales. Laboratorio de Investigacion de Sistemas Ecologicos y Ambientales; ArgentinaFil: Drozd, Andrea Alejandra. Universidad Nacional de la Plata. Facultad de Ciencias Agrarias y Forestales. Laboratorio de Investigacion de Sistemas Ecologicos y Ambientales; ArgentinaFil: Arturi, Marcelo Fabián. Universidad Nacional de la Plata. Facultad de Ciencias Agrarias y Forestales. Laboratorio de Investigacion de Sistemas Ecologicos y Ambientales; ArgentinaFil: Martinuzzi, Sebastián. University Of Wisconsin-madison. Silvis Lab; Estados Unido

    Mapa de zonas de vida de Holdridge, República Argentina

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    El fin de este estudio fue identificar y mapear las zonas de vida de Holdridge presentes en Argentina. Se integraron datos climáticos disponibles a una resolución espacial de 1 km. La aplicación del modelo de Holdridge para Argentina resultó en una zonificación bioclimática objetiva, detallada y precisa del país que destaca la gran heterogeneidad ambiental del mismo para la vida espontánea, los cultivos y la producción agropecuaria y forestal, al mismo tiempo que puede emplearse como una herramienta útil para evaluar la evolución espacial de cambios climáticos, el uso de la tierra y otros aspectos socioculturales, la conservación de la biodiversidad, y demás finalidades.Universidad Nacional de La Plat
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