Suchergebnisse

English Interorganizational relationships are important capacity-building mechanisms for non-governmental organizations. Based on case studies of six Peruvian NGOs, this study found that international NGOs play crucial roles in how Peruvian NGOs function. In contrast, collaborative relationships among these Peruvian NGOs and with the government are underdeveloped. Possible reasons for these findings are discussed. French Les relations inter organisations représentent d'importants mécanismes de construction d'aptitude pour les organisations non gouvernementales. Basée sur les études de cas de six ONGs péruviennes, cette étude démontre que les ONGs internationales jouent un rôle crucial dans le fonctionnement des ONGs péruviennes. Par contraste, les relations de coopération entre ces ONGs péruviennes et avec le gouvernement sont sous- développées. Les raisons possibles de ces résultats sont discutées. Spanish Las relaciones inter-organizacionales son importantes mecanismos de construcción para las organizaciones no gubernamentales. Basado en seis ONG peruanas, este estudio determinó que las ONG internacionales juegan un papel fundamental en el funcionamiento de las ONG peruanas. Por el contrario, las relaciones de colaboración entre estas ONG peruanas y el gobierno están subdesarrolladas. Las posibles razones de estos descubrimientos son discutidas.

Interorganizational relationships are important capacity-building mechanisms for non-governmental organizations. Based on case studies of six Peruvian NGOs, this study found that international NGOs play crucial roles in how Peruvian NGOs function. In contrast, collaborative relationships among these Peruvian NGOs and with the government are underdeveloped. Possible reasons for these findings are discussed.

Objective To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Methods Multimodal RFC1 repeat screening (PCR, Southern blot, whole-exome/genome sequencing?based approaches) combined with cross-sectional and longitudinal deep phenotyping in (1) cross-European cohort A (70 families) with ?2 features of CANVAS or ataxia with chronic cough (ACC) and (2) Turkish cohort B (105 families) with unselected late-onset ataxia. Results Prevalence of RFC1 disease was 67% in cohort A, 14% in unselected cohort B, 68% in clinical CANVAS, and 100% in ACC. RFC1 disease was also identified in Western and Eastern Asian individuals and even by whole-exome sequencing. Visual compensation, sensory symptoms, and cough were strong positive discriminative predictors (>90%) against RFC1-negative patients. The phenotype across 70 RFC1-positive patients was mostly multisystemic (69%), including dysautonomia (62%) and bradykinesia (28%) (overlap with cerebellar-type multiple system atrophy [MSA-C]), postural instability (49%), slow vertical saccades (17%), and chorea or dystonia (11%). Ataxia progression was ?1.3 Scale for the Assessment and Rating of Ataxia points per year (32 cross-sectional, 17 longitudinal assessments, follow-up ?9 years [mean 3.1 years]) but also included early falls, variable nonlinear phases of MSA-C?like progression (SARA points 2.5?5.5 per year), and premature death. Treatment trials require 330 (1-year trial) and 132 (2-year trial) patients in total to detect 50% reduced progression. Conclusions RFC1 disease is frequent and occurs across continents, with CANVAS and ACC as highly diagnostic phenotypes yet as variable, overlapping clusters along a continuous multisystemic disease spectrum, including MSA-C-overlap. Our natural history data help to inform future RFC1 treatment trials. Classification of Evidence This study provides Class II evidence that RFC1 repeat expansions are associated with CANVAS and ACC. ; FUNDING: Study Funding This work was supported via the European Union's Horizon 2020 research and innovation program by the BMBF under the frame of the E-Rare-3 network PREPARE (01GM1607; to M. Synofzik,M.A., H.P., B.P.v.d.W.), by the DFG under the frame of EJP-RD network PROSPAX (No. 441409627; M. Synofzik, B.P.v.d.W., A.N.B.), and grant 779257 "Solve-RD" (toM. Synofzik, B.P.v.d.W.). B.P.v.d.W. receives additional research support from ZonMW, Hersenstichting, Gossweiler Foundation, uniQure, and Radboud University Medical Centre. T.B.H. was supported by the DFG (No 418081722). A.T. receives funding from the University of T¨ubingen, medical faculty, for the Clinician Scientist Program grant 439-0-0. A.C. thanks Medical Research Council, MR/T001712/1) and Fondazione CARIPLO (2019-1836) for grant support. L.S., T.K., B.P.v.d.W., and M. Synofzik are members of the European Reference Network for Rare Neurological Diseases, project 739510. A.N.B. is supported by the Suna and Inan Kirac Foundation and Koç University School of Medicine.