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Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.
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Objective:To investigate the reproducibility of inflow-based vascular-space-occupancy (iVASO)-MRI in quantifying skeletal muscle perfusion and its potential clinical value in patients with dermatomyositis (DM).Methods:Totally 15 consecutive patients with DM and 15 healthy volunteers were enrolled in this prospective study from December 2018 to April 2019 at Nanfang Hospital, Southern Medical University. All subjects underwent T 1WI, short-tau inversion recovery (STIR) T 2WI, and iVASO-MRI of thigh on a 3.0 T MR scanner. According to findings on T 1WI and STIR T 2WI, the muscles were divided into normal, unaffected, edematous and atrophic or fat-infiltrated groups. Maximum arteriolar muscular blood volume (MBVa_max) and mean MBVa (MBVa_mean) of these 4 groups of muscles were obtained by 2 radiologists independently. In order to evaluate the reproducibility of iVASO, the repeated scan was performed 3 days later in 17 subjects (12 healthy volunteers and 5 DM patients), and the MBVa values were measured to calculate the intraclass correlation coefficients (ICC). The MBVa_max and MBVa_mean among the 4 groups were compared by using Kruskal-Wallis H test and the differences of each 2 groups was compare by using Mann-Whitney U test. Results:The ICC between the 2 observers was 0.95 and 0.96 for MBVa_max and MBVa_mean, respectively. The ICC between repeated tests was 0.87 and 0.89 for MBVa_max and MBVa_mean, respectively.There was significant difference among normal muscles, unaffected muscles, edematous muscles and atrophic or fat-infiltrated muscles ( P<0.001). Post hoc comparisons of MBVa_max and MBVa_mean showed that compared to normal muscles, unaffected muscles, edematous muscles and atrophic or fat-infiltrated muscles had a significant decrease of MBVa ( P<0.05). Unaffected muscles and edematous muscles showed no significant difference in terms of MBVa_max and MBVa_mean (both P=0.99), which were significantly higher than those of atrophic or fat-infiltrated muscles ( P<0.05). Conclusions:iVASO-MRIcan reliably quantify the MBVa of thigh muscular arteriolar, and it is potentially valuable in the diagnosis of DM.
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Neurology is one of the most difficult subjects in clinical medical education.How to improve the teaching model of neurology is a crucial problem.The systematic instructional design and problem-based learning (PBL) emerge as mature teaching techniques,and having a broad application prospect.However,simple PBL teaching model has not achieved the desired results,because PBL teaching method pays excessive attention to the subjective initiative of students,but ignores the supervision and assessment mechanisms,such as assessment,feedback,adjustment,which are the major concerns of systematic instructional design.This research tries to combine systematic instructional design with PBL teaching model,and explore the position in neurology teaching.By determining the teaching target,analysis of PBL teaching,writing teaching plans,organization of PBL teaching,feedback to adjust teaching design method,the final summative evaluation is done and the teaching,was completed.After practice tips may bring progress on neurology teaching mode.
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ObjectiveTo investigate the clinical features of Chinese dysgraphia and then probe into its mechanisms in a patient with semantic dementia(SD).MethodsThe patient with SD finished the writing part of the Aphasia Battery of Chinese (Aphasia Battery of Chinese,ABC) and the Chinese agraphia battery (Chinese agraphia battery,CAB ) in addition to a series of other neuropsychological tests.Results( 1 ) On the Wechsler Adult intelligence scale,the patient performed poorly on information and vocabulary with scores of 6/29 and 8/80,respectively.He spoke out only 11 names totally on the category fluency test within 1 minute,while 25 names or more than were normal.Semantic features test showed he made 37 right answers of 60 questions,with scores of 8/20 on category,7/20 on function and 8/20 on nature features.(2)The writing disorder exhibited Chinese aphasia agraphia with obvious difficulty in forming characters,wrong characters of the same pronunciation or the same form or unrelated errors,and grammatical impairments.Its damage from serious to light occurred in picture writing( 6/40),writing sentences to convey meaning(1/10),dictation(11/40) and automatic writing(35/40).The transcription was relatively preserved (40/40 ). (3)He scored 20 and 19 points on MMSE and MoCA.Executive function was damaged significantly,while recent memory was preserved relatively.ConclusionThe patient with SD shows an impoverished store of general knowledge and poor comprehension of single-word.The nature of SD's dysgraphia presents Chinese aphasia agraphia,undoubtedly due to progressive deterioration in semantic memory.More importantly,its error types and distribution show apparent discrepancy from that of alphabetic script.Presumably because Chinese writing system is logographic in nature and the pathway of comprehension concerning syllable-orthography-morphemes mapping,while alphabetic writing system follows a principle of mapping graphemes on-to phonemes and letters themselves dont stand for any meaning.
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AIM: Tongxinluo had showed effects of inducing proliferation and differentiation on neural stem cells in previous observations on animal models. The experiment would investigate the time-effect and dose-effect relationship of Tongxinluo on neurocyte lineage development from rat embryonic neural stem cells (NSCs). METHODS: Experiments were performed at the Laboratory of Functional Science of Southern Medical University from June to October 2007. ①Pregnant rats of 12-14 days were provided by Experimental Animal Center of Southern Medical University. The experiment was performed in strict compliance with all standards for ethics. Tongxinluo contained ginseng, leech, scorpion, ground beetle, centipede, pellicula cicadae, red peony root, borneol and so on. Tongxinluo was produced by Shijiazhuang Yiling Pharmaceutical Co., Ltd., No. Z19980015. Preparation of serum containing Tongxinluo: 1 g/kg per day Tongxinluo suspension was given by lavage in rats of high-dose Tongxinluo group, and 0.5 g/kg per day in rats of low-dose Tongxinluo group. 7 days later, sera were extracted from all the rats and sterilized with filtrating, followed by separate-loading and cryopreservation at –70 ℃. ②NSCs cultured were separated from 12th-14th day SD rat embryo. The third passage of cells was treated with serum containing Tongxinluo in the high-dose and low-dose Tongxinluo group. Rats were treated with common serum as a control. ③Proportion of various kinds of nerve cells was observed by immunofluorescence staining at days 1, 3 and 7. RESULTS: ①At day 1, there was few cells labeled with 5-bromodeoxyuridine (BrdU) (+) and glial fibrillary acidic protein (GFAP) (+) in high-dose Tongxinluo group, with rest cells all labeled with BrdU (+) and Nestin (+). While in low-dose Tongxinluo group and control group, all cells were BrdU(+)Nestin(+). ②At day 3, the ratios of cells labeled with Nestin (+), ?tubulin (+) or GFAP (+) differentiated with each other (P 0.05). ③The ratios of NSCs labeled with nestin (+) decreased soon after administered Tongxinluo, and increased after that. The ratios of ?tubulin (+) cells increased in the high-dose Tongxinluo group while increased firstly then decreased in the low-dose Tongxinluo group and control group. The ratios of GFAP (+) cells increased in the low-dose Tongxinluo group and control group while increased firstly then decreased in the high-dose Tongxinluo group. The ratios of GalC (+) cells had no remarkable change in the high-dose and low-dose Tongxinluo group, but increased significantly at day 7 in the control group. CONCLUSION: Tongxinluo may induce proliferation and neuronal differentiation of rat embryonic NSCs with time-effect and dose-effect relationship. The more Tongxinluo is administered, the more significant and permanent effects will be achieved.
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The systematic teaching does better to help students master and use what they have learned, and it will be good for avoidance of repeated contents and shortening teaching time. It can also help students find more interest in studying neurology.