BackgroundEarly onset Parkinson's disease (EOPD) is a neurodegenerative disease associated with the action ofto genetic factors. A mutated phospholipase A2 type VI gene (PLA2G6) is considered to be one of pathogenic genes involved in EOPD development. Although EOPD caused by a mutated PLA2G6 has been recorded in major databases, not all mutant genotypes have been reported. Here, we report a case of PLA2G6-related EOPD caused by a novel compound heterozygous mutation.Case presentationThe case was an of 26-year-old young male with a 2-year course of disease. The onset of the disease was insidious and developed gradually. The patient presented with unsteady walking, bradykinesia, unresponsiveness, and decreased facial expression. Auxiliary examination showed a compound heterozygous mutation of the PLA2G6gene with c.991G > T and c.1427 + 1G > A. Mild atrophy of the cerebrum and cerebellum was detected on brain MRI. The patient was diagnosed with EOPD. We administered treatment with Madopar, which was effective. After a two-year disease course, we observed progression to stage 5 according to the Hoehn-Yahr Scale (without medicine in the off-stage). An MDS-UPDRS III score of 62 was obtained, with characteristics of severe disease and rapid progress. The diagnosis was an EOPD phenotype caused by a combination of mutations at the c.991G > T and c.1427 + 1G > A sites of the PLA2G6gene.ConclusionAfter active treatment, the disease was set under control, with no significant progression during the three-month follow-up period. Dyskinesia did not recur after reducing the Madopar dose. The freezing sign was slightly decreased and the wearing-off was delayed to 2 h.
When evaluating the performance of Research and Development (R&D) and Scientific and Technological (S&T) transformation activities in universities, the existing studies do not contain prior strategy analysis and inequality analysis. In this regard, prior strategy reflects the relative attention paid by universities to R&D and S&T transformation activities, while inequality analysis assists us in better understanding technological inequality in efficiency across universities. Additionally, this study contributes to the existing literatures by proposing new concepts of window‐based cross‐efficiency, window‐based relative weights and a network Data Envelopment Analysis model. Our framework is able to evaluate the efficiency, perform priority analysis and identify the sources of technological inequality. Empirically, this study focuses on universities in Chinese provinces from 2007 to 2019. This study is of high policy practice, since it provides policy makers with how each university has performed during the examined period and what are the underling factors driving efficiency changes.
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