1.Clinical features and treatment status of adolescent patients with bipolar disorder
Qian SUN ; Wei JIANG ; Jiong LUO ; Wen WANG ; Hu WANG ; Yanping REN
Sichuan Mental Health 2023;36(3):197-201
		                        		
		                        			
		                        			BackgroundGender and age differences in the clinical manifestations of patients with bipolar disorder can affect the clinical diagnosis and treatment process. The current treatment effect of bipolar disorder in adolescents is not ideal, which has become the main reason for disability during the learning period. ObjectiveTo analyze the clinical features and medication therapy status of bipolar disorder in adolescents, and to provide references to support for personalized diagnosis and treatment. MethodsOn January 16, 2023, 1 169 patients with bipolar disorder who were hospitalized at Beijing Anding Hospital Affiliated Capital Medical University from January 1, 2014 to December 31, 2017 were retrospectively enrolled. Medical records were collected and analyzed to compare the clinical features among patients of different gender and age groups, and to explore the differences in medication use among patients of different genders in different types of seizures. ResultsMale patients reported a larger proportion of manic episodes, and a smaller proportion of depressive episodes than female patients (P<0.05).Female patients reported a larger proportion of non-suicidal self-harm behaviors than male patients (χ2=7.761, P<0.01).And patients in low-age group featured a larger proportion of mixed seizures, impulsive behaviors and family history of bipolar disorders along with a smaller proportion of manic episodes than those in high-age group (P<0.05 or 0.01). High-age group had a longer average length of hospital stay than low-age group (t=-2.930, P<0.01). In manic episode patients, males were found to have a larger proportion of valproate and atypical antipsychotic drug administration than females (P<0.01). Among atypical antipsychotic drugs, males accounted for a larger proportion of administration of risperidone and olanzapine (χ2=26.957) than females (P<0.05 or 0.01), while females constituted a larger proportion of administration of quetiapine (χ2=14.865) and aripiprazole than males (P<0.01). In depressive episode patients, females had a larger proportion of administration of olanzapine than males (P<0.01). In patients with mixed seizures, females occupied a larger proportion of administration of lithium carbonate than males (χ2=9.253, P<0.01), and males exhibited a larger proportion of administration of valproate than females (P<0.05). ConclusionDifferences have been shown in diagnostic classification and concomitant symptoms among adolescent bipolar disorder of different genders and ages. Furthermore, medications of lithium carbonate, valproate, atypical antipsychotic and other drugs differ by gender among adolescents of different subtypes of bipolar disorder. [Funded by Key Special Project of the National Key R&D Program of the Ministry of Science and Technology for "Major Chronic Non communicable Disease Prevention and Control Research" (number, 2017YFC1311101)] 
		                        		
		                        		
		                        		
		                        	
2.Clincal practice of pelvic exenteration for late complications of pelvic radiation injury.
Teng Hui MA ; Yan Jiong HE ; Zuo Lin ZHOU
Chinese Journal of Gastrointestinal Surgery 2023;26(3):235-240
		                        		
		                        			
		                        			Pelvic radiation injury can potentially involve multiple pelvic organs, and due to its progressive and irreversible nature, its late stage can be complicated by fistulas, perforations, obstructions and other complications involved multiple pelvic organs, which seriously affect the long-term survival and the quality of life of patients. As a multidisciplinary surgical approach, pelvic exenteration has potential application in the treatment of late complications of pelvic radiation injury by completely removing the irradiated lesion, relieving symptoms and avoiding recurrence of symptoms. In clinical practice, we should advocate the concept of "pelvic radiation injury", emphasize multidisciplinary collaboration, fully evaluate the overall status of patients, primary tumor and pelvic radiation injury. We should follow the principles of "damage-control" and "extended resection", and follow the principle of enhanced recovery after surgery to achieve the goal of ensuring the surgical safety, relieving patients' symptoms and improving patients' quality of life and long-term survival.
		                        		
		                        		
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Pelvic Exenteration/adverse effects*
		                        			;
		                        		
		                        			Postoperative Complications
		                        			;
		                        		
		                        			Quality of Life
		                        			;
		                        		
		                        			Radiation Injuries/surgery*
		                        			;
		                        		
		                        			Neoplasm Recurrence, Local/surgery*
		                        			;
		                        		
		                        			Retrospective Studies
		                        			
		                        		
		                        	
3.A flowchart for the diagnosis and differential diagnosis of post-stroke aphasia types in the Chinese language and treatment of post-stroke aphasia
Yinhua WANG ; Wanliang DU ; Xiaona YANG ; Jun YAN ; Wei SUN ; Jing BAI ; Jiong ZHOU ; Aihong ZHOU ; Jianping NIU ; Chuanling LI ; Jian WANG
Chinese Journal of Geriatrics 2022;41(4):488-496
		                        		
		                        			
		                        			This article aims to comprehensively review the concept, etiology, classification, classical cortical mapping, assessment, a proposed flowchart for the diagnosis and differential diagnosis, treatment, rehabilitation, mechanisms of development and recovery, prognosis, and influencing factors for post-stroke aphasia(PSA)types in the Chinese language.We emphasize the necessity and significance of neuroimaging assessment of the brain and blood vessels and neuropsychological assessment in the diagnosis and differential diagnosis of PSA in Chinese.We also recommend and encourage the use of the dichotomies of internal vs.external and anterior vs.posterior as a starting point, based on the association of anatomical locations of the brain and blood vessels with brain language areas and language disorders.A classification system of PSA in Chinese developed from this approach in the form of a flowchart is well-suited for guiding the clinical treatment of cerebral stroke.Incorporating the "four elements" , the flowchart enables convenient diagnosis, classification and differential diagnosis of PSA in Chinese and facilitates targeted and personalized rehabilitation planning to benefit the patient.This article introduces the use of memantine, piracetam, donepezil and other drugs for PSA treatment, evaluates clinical trials on memantine conducted in China and abroad and its mechanisms of action for the treatment of PSA, and discusses how rehabilitation therapy achieves therapeutic effects.For the treatment of PSA, clinical research and practice using drugs such as memantine, piracetam and donepezil in combination with non-pharmacotherapy and rehabilitation training should be promoted.
		                        		
		                        		
		                        		
		                        	
4.Development of a
Yiying YANG ; Qingqing SUN ; Yang LIU ; Hanzhi YIN ; Wenping YANG ; Yang WANG ; Ying LIU ; Yuxian LI ; Shen PANG ; Wenxi LIU ; Qian ZHANG ; Fang YUAN ; Shiwen QIU ; Jiong LI ; Xuefeng WANG ; Keqiang FAN ; Weishan WANG ; Zilong LI ; Shouliang YIN
Journal of Zhejiang University. Science. B 2021;22(5):383-396
		                        		
		                        		
		                        		
		                        	
5.Effects of Tanreqing Capsule on the negative conversion time of nucleic acid in patients with COVID-19: A retrospective cohort study.
Xing ZHANG ; Yan XUE ; Xuan CHEN ; Jia-Min WU ; Zi-Jian SU ; Meng SUN ; Lu-Jiong LIU ; Yi-Bao ZHANG ; Yi-le ZHANG ; Gui-Hua XU ; Miao-Yan SHI ; Xiu-Ming SONG ; Yun-Fei LU ; Xiao-Rong CHEN ; Wei ZHANG ; Qi CHEN
Journal of Integrative Medicine 2021;19(1):36-41
		                        		
		                        			OBJECTIVE:
		                        			Traditional Chinese medicine plays a significant role in the treatment of the pandemic of coronavirus disease 2019 (COVID-19). Tanreqing Capsule (TRQC) was used in the treatment of COVID-19 patients in the Shanghai Public Health Clinical Center. This study aimed to investigate the clinical efficacy of TRQC in the treatment of COVID-19.
		                        		
		                        			METHODS:
		                        			A retrospective cohort study was conducted on 82 patients who had laboratory-confirmed mild and moderate COVID-19; patients were treated with TRQC in one designated hospital. The treatment and control groups consisted of 25 and 57 cases, respectively. The treatment group was given TRQC orally three times a day, three pills each time, in addition to conventional Western medicine treatments which were also administered to the control group. The clinical efficacy indicators, such as the negative conversion time of pharyngeal swab nucleic acid, the negative conversion time of fecal nucleic acid, the duration of negative conversion of pharyngeal-fecal nucleic acid, and the improvement in the level of immune indicators such as T-cell subsets (CD3, CD4 and CD45) were monitored.
		                        		
		                        			RESULTS:
		                        			COVID-19 patients in the treatment group, compared to the control group, had a shorter negative conversion time of fecal nucleic acid (4 vs. 9 days, P = 0.047) and a shorter interval of negative conversion of pharyngeal-fecal nucleic acid (0 vs. 2 days, P = 0.042). The level of CD3
		                        		
		                        			CONCLUSION
		                        			Significant reductions in the negative conversion time of fecal nucleic acid and the duration of negative conversion of pharyngeal-fecal nucleic acid were identified in the treatment group as compared to the control group, illustrating the potential therapeutic benefits of using TRQC as a complement to conventional medicine in patients with mild and moderate COVID-19. The underlying mechanism may be related to the improved levels of the immune indicator CD3
		                        		
		                        		
		                        		
		                        			Adult
		                        			;
		                        		
		                        			Antiviral Agents/therapeutic use*
		                        			;
		                        		
		                        			COVID-19/pathology*
		                        			;
		                        		
		                        			Capsules
		                        			;
		                        		
		                        			DNA, Viral/analysis*
		                        			;
		                        		
		                        			Drugs, Chinese Herbal/therapeutic use*
		                        			;
		                        		
		                        			Feces/virology*
		                        			;
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Length of Stay
		                        			;
		                        		
		                        			Lymphocyte Count
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Medicine, Chinese Traditional/methods*
		                        			;
		                        		
		                        			Middle Aged
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			SARS-CoV-2/genetics*
		                        			;
		                        		
		                        			Severity of Illness Index
		                        			;
		                        		
		                        			Treatment Outcome
		                        			;
		                        		
		                        			Young Adult
		                        			
		                        		
		                        	
6.Early therapeutic interventions of traditional Chinese medicine in COVID-19 patients: A retrospective cohort study.
Miao-Yan SHI ; Shi-Qi SUN ; Wei ZHANG ; Xing ZHANG ; Gui-Hua XU ; Xuan CHEN ; Zi-Jian SU ; Xiu-Ming SONG ; Lu-Jiong LIU ; Yi-Bao ZHANG ; Yi-le ZHANG ; Meng SUN ; Qi CHEN ; Yan XUE ; Hua LÜ ; Wei-An YUAN ; Xiao-Rong CHEN ; Yun-Fei LU
Journal of Integrative Medicine 2021;19(3):226-231
		                        		
		                        			OBJECTIVE:
		                        			To observe the early interventions of traditional Chinese Medicine (TCM) on the conversion time of nucleic acid in patients with coronavirus disease 2019 (COVID-19), and find possible underlying mechanisms of action.
		                        		
		                        			METHODS:
		                        			A retrospective cohort study was conducted on 300 confirmed COVID-19 patients who were treated with TCM, at a designated hospital in China. The patients were categorized into three groups: TCM1, TCM2 and TCM3, who respectively received TCM interventions within 7, 8-14, and greater than 15 days of hospitalization. Different indicators such as the conversion time of pharyngeal swab nucleic acid, the conversion time of fecal nucleic acid, length of hospital stay, and inflammatory markers (leukocyte count, and lymphocyte count and percentage) were analyzed to observe the impact of early TCM interventions on these groups.
		                        		
		                        			RESULTS:
		                        			The median conversion times of pharyngeal swab nucleic acid in the three groups were 5.5, 7 and 16 d (P < 0.001), with TCM1 and TCM2 being statistically different from TCM3 (P < 0.01). TCM1 (P < 0.05) and TCM3 (P < 0.01) were statistically different from TCM2. The median conversion times of fecal nucleic acid in the three groups were 7, 9 and 17 d (P < 0.001). Conversion times of fecal nucleic acid in TCM1 were statistically different from TCM3 and TCM2 (P < 0.01). The median lengths of hospital stay in the three groups were 13, 16 and 21 d (P < 0.001). TCM1 and TCM2 were statistically different from TCM3 (P < 0.01); TCM1 and TCM3 were statistically different from TCM2 (P < 0.01). Both leucocyte and lymphocyte counts increased gradually with an increase in the length of hospital stay in TCM1 group patients, with a statistically significant difference observed at each time point in the group (P < 0.001). Statistically significant differences in lymphocyte count and percentage in TCM2 (P < 0.001), and in leucocyte count (P = 0.043) and lymphocyte count (P = 0.038) in TCM3 were observed. The comparison among the three groups showed a statistically significant difference in lymphocyte percentage on the third day of admission (P = 0.044).
		                        		
		                        			CONCLUSION
		                        			In this study, it was observed that in COVID-19 patients treated with a combination of Chinese and Western medicines, TCM intervention earlier in the hospital stay correlated with faster conversion time of pharyngeal swab and fecal nucleic acid, as well as shorter length of hospital stay, thus helping promote faster recovery of the patient. The underlying mechanism of action may be related to improving inflammation in patients with COVID-19.
		                        		
		                        		
		                        		
		                        			Adult
		                        			;
		                        		
		                        			Aged
		                        			;
		                        		
		                        			COVID-19/drug therapy*
		                        			;
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Length of Stay
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Medicine, Chinese Traditional
		                        			;
		                        		
		                        			Middle Aged
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			SARS-CoV-2
		                        			
		                        		
		                        	
7.Expert Concensus on Triune Personalized Treatment of Pelvic Tumor Based on Three-Dimensional Printing
Songtao AI ; Zhengdong CAI ; Feiyan CHEN ; Kerong DAI ; Yang DONG ; Lingjie FU ; Yongqiang HAO ; Yingqi HUA ; Wenbo JIANG ; Jiong MEI ; Yuhui SHEN ; Wei SUN ; Rong WAN ; Yichao WANG ; Zhiwei WANG ; Haifeng WEI ; Wen WU ; Jianru XIAO ; Wangjun YAN ; Xinghai YANG ; Chunlin ZHANG ; Weibin ZHANG
Journal of Medical Biomechanics 2021;36(1):E001-E005
		                        		
		                        			
		                        			 The adjacent anatomy of the pelvis is complicated, with digestive, urinary, reproductive and other organs as well as important blood vessels and nerves. Therefore, accurate resection of pelvic tumors and precise reconstruction of defects after resection are extremely difficult. The development of medical 3D printing technology provides new ideas for precise resection and personalized reconstruction of pelvic tumors. The “triune” application of 3D printing personalized lesion model, osteotomy guide plate and reconstruction prosthesis in pelvic tumor limb salvage reconstruction treatment has achieved good clinical results. However, the current lack of normative guidance standards such as preparation and application of 3D printing personalized lesion model, osteotomy guide plate and reconstruction prosthesis restricts its promotion and application. The formulation of this consensus provides normative guidance for 3D printing personalized pelvic tumor limb salvage reconstruction treatment. 
		                        		
		                        		
		                        		
		                        	
8.Clinical features and prognosis of anastomotic leak after anterior resection for rectal cancer following neoadjuvant chemoradiotherapy.
Qi Yuan QIN ; Ya Li WU ; Yong Hua CAI ; Ying Yi KUANG ; Yan Jiong HE ; Xiao Yan HUANG ; Hui WANG ; Teng Hui MA
Chinese Journal of Gastrointestinal Surgery 2021;24(6):513-522
		                        		
		                        			
		                        			Objective: To explore clinical features and prognosis of anastomotic leak (AL) after anterior resection following neoadjuvant chemoradiotherapy for rectal cancer patients. Methods: A retrospective cohort study was performed. Data were retrieved from colorectal cancer database of the Sixth Affiliated Hospital, Sun Yat-sen University. The clinical data of 470 patients with rectal cancer who underwent anterior resection after neoadjuvant chemoradiotherapy at our department from September 2010 to December 2018 were enrolled. Clinical features and outcome of postoperative AL were analyzed. The primary outcomes were the short-term and long-term incidence and severity of AL (ISREC grading standard was adopted). The secondary outcomes were the prognostic indicators of AL, including the secondary chronic presacral sinus, anastomotic stenosis and persistent stoma. Patients received regular follow-up every 3-6 months after surgery, including physical examination, blood test, colonoscopy and image; those received follow-up once a year after postoperative 2-year; those who did not return to our hospital received telephone follow-up. Data of this study were retrieved up to January 2020. Univariate χ(2) test and multivariate logistic analysis were used to identify risk factors of AL and prognostic factors of persistent stoma. Results: There were 331 males (70.4%) with the average age of (53.5±11.6) years. Distance from tumor to anal verge ≤ 5 cm was found in 228 (48.5%) patients. The diverting stoma was performed in 440 (93.6%) patients. After a median follow-up of 28 months, AL was found in 129 (27.4%) patients, including 67 (14.3%) patients with clinical leak (ISREC grade B-C). The median time for diagnosis of AL was 70 days (2-515 days) after index surgery. Common symptoms included sacrococcygeal pain (27.9%, 36/129), purulent discharge through anus (25.6%, 33/129), and rectal irritation (17.8%, 23/129). Sixty five point one percent (84/129) of the defect site was at the posterior wall of the anastomosis. Transanal incision and drainage or lavage (27.9%, 36/129) and percutaneous drainage under ultrasound or CT (17.1%, 22/129) were the most common management. Chronic presacral sinus tract could not be evaluated in 12 patients because imaging was performed more than 1 year after the operation. Evaluation beyond 1 year showed that 73 of 458 eligible patients (15.9%) were found with chronic presacral sinus, accounting for 62.4% (73/117) of patients with AL; 69 of 454 (15.2%) were diagnosed with anastomotic stenosis, of whom 49 were secondary to AL; 59 of 470 (12.6%) had persistent stoma due to AL. Univariate analysis showed that male, operative duration > 180 minutes, intraoperative blood loss >150 ml, and pelvic radiation injury were associated with AL (all P<0.05). Multivariate analysis showed that male (OR=1.72, 95% CI: 1.04-2.86, P=0.036), intraoperative blood loss > 150 ml (OR=1.82, 95% CI: 1.11-2.97, P=0.017), and pelvic radiation injury (OR=4.90, 95% CI: 3.09-7.76, P<0.001) were independent risk factors of AL after anterior resection. For patients with AL, clinical leak (ISREC grade B-C) (OR=9.59, 95% CI: 3.73-24.69, P<0.001), age ≤55 years (OR=3.35, 95% CI: 1.35-8.30, P=0.009), distance from tumor to anal verge ≤ 5 cm (OR=3.33, 95% CI: 1.25-8.92, P=0.017), and pelvic radiation injury (OR=3.29, 95% CI: 1.33-8.14, P=0.010) were independent risk factors of persistent stoma. Conclusions: AL after anterior resection following neoadjuvant chemoradiotherapy for rectal cancer patients is common. Among patients with AL, the proportion of those needing persistent stoma is high. Pelvic radiation injury is significantly associated with occurrence of AL and subsequent persistent stoma. Sphincter-preserving surgery for rectal cancer should be selectively used based on the risk of pelvic radiation injury, which is beneficial to reduce the incidence of AL and improve the quality of life.
		                        		
		                        		
		                        		
		                        			Adult
		                        			;
		                        		
		                        			Aged
		                        			;
		                        		
		                        			Anastomosis, Surgical
		                        			;
		                        		
		                        			Anastomotic Leak
		                        			;
		                        		
		                        			Chemoradiotherapy
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Middle Aged
		                        			;
		                        		
		                        			Neoadjuvant Therapy
		                        			;
		                        		
		                        			Prognosis
		                        			;
		                        		
		                        			Quality of Life
		                        			;
		                        		
		                        			Rectal Neoplasms/surgery*
		                        			;
		                        		
		                        			Retrospective Studies
		                        			
		                        		
		                        	
9.Meta analysis of diseased bowel resection versus diversion enterostomy in the treatment of late severe complications of chronic radiation-induced rectal injury.
Zuo Lin ZHOU ; Yan Jiong HE ; Xiao Yan HUANG ; Teng Hui MA
Chinese Journal of Gastrointestinal Surgery 2021;24(11):1015-1023
		                        		
		                        			
		                        			Objective: To investigate the efficacy and safety of diseased bowel resection and diversion enterostomy in the treatment of late severe complications of chronic radiation-induced late rectal injury (RLRI). Methods: Studies about comparison of diseased bowel resection and diversion enterostomy in the treatment of late severe complications of chronic RLRI were screened and retrieved from databases, including PubMed, EMBASE, Scopus, Web of Science, Cochrane Library, CNKI, VIP, CBM and Wanfang. The following terms in Chinese were used to search [Title/Abstract]: radiation-induced intestinal injury, radiation proctitis, surgery. The following English terms were used to search: Radiation-induced intestinal injury, Bowel injury from radiation, Radiation proctitis, Surgery, Colostomy. Literature inclusion criteria: (1) studies with control groups, published at home and abroad publicly, about the postoperative effects of diseased bowel resection vs. diversion enterostomy on RLRI patients with late severe complications; (2) the period of the study performed in the literatures must be clear; (3) patients at the preoperative diagnosis for RLRI with refractory bleeding, narrow, obstruction, perforation or fistula, etc.; (4) diseased bowel resection included Hartmann, Dixon, Bacon and Parks; diversion enterostomy included colostomy and ileostomy; (5) if the studies were published by the same institution or authors at the same time, the study with the biggest sample size was chosen; studies conducted in different time with different subjects were simultaneously included; (6) at least one prognostic indicator of the following parameters should be included: the improvement of symptoms, postoperative complications, mortality, and reversed stomas rate. The stoma reduction rate was defined as the ratio of successful closure of colostomy after diseased bowel resection and diversion enterostomy. The method of direct calculation or the method of convert into direct calculation were used for stoma reduction rate. Exclusion criteria: (1) a single-arm study without control group; (2) RLRI patients did not undergo diseased bowel resection or diversion enterostomy at the first time; (3) RLRI patients with distant metastasis; (4) the statistical method in the study was not appropriate; (5) the information was not complete, such as a lack of prognosis in the observational indexes. After screening literatures according to criteria, data retrieval and quality evaluation were carried out. Review Manager 5.3 software was used for Meta-analysis. Sensitivity analysis was used to exam the stability of results. Funnel diagram was used to analyze the bias of publication. Results: A total of 11 literatures were enrolled, including 426 RLRI patients with late severe complications, of whom 174 underwent diseased bowel resection (resection group) and 252 underwent diversion enterostomy (diversion group), respectively. Compared with diversion group, although resection group had a higher morbidity of complication (35.1% vs. 15.9%, OR=2.67, 95% CI: 1.58 to 4.53, P<0.001), but it was more advantageous in symptom improvement (94.2% vs. 64.1%, OR=6.19, 95% CI: 2.47 to 15.52, P<0.001) and stoma reductions (62.8% vs. 5.1%, OR=15.17, 95% CI: 1.21 to 189.74, P=0.030), and the differences were significant (both P<0.05). No significant difference in postoperative mortality was found between the two groups (10.1% vs. 18.8%, OR=0.74, 95% CI: 0.21 to 2.59, P=0.640). There were no obvious changes between the two groups after sensitivity analysis for the prognostic indicators (the symptoms improved, postoperative complications, mortality, and reversed stomas rate) compared with the meta-analysis results before exclusion, suggesting that the results were robust and credible. Funnel diagram analysis suggested a small published bias. Conclusions: Chronic RLRI patients with late severe complications undergoing diseased bowel resection have higher risk of complication, while their long-term mortality is comparable to those undergoing diversion enterostomy. Diseased bowel resection is better in postoperative improvement of symptoms and stoma reduction rate.
		                        		
		                        		
		                        		
		                        			Colostomy
		                        			;
		                        		
		                        			Enterostomy
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Ileostomy
		                        			;
		                        		
		                        			Radiation Injuries/surgery*
		                        			;
		                        		
		                        			Rectum/surgery*
		                        			;
		                        		
		                        			Surgical Stomas
		                        			
		                        		
		                        	
10.The phenotypic and genetic spectrum of colony-stimulating factor 1 receptor gene-related leukoencephalopathy in China
Jingying WU ; Zaiqiang ZHANG ; Qing LIU ; Jun XU ; Weihai XU ; Liyong WU ; Zhiying WU ; Kang WANG ; Jianjun WU ; Zhangyu ZOU ; Haishan JIANG ; Wei ZHANG ; Wei GE ; Yuhu ZHANG ; Tongxia ZHANG ; Lixia ZHANG ; Zhanhang WANG ; Li LING ; Chang ZHOU ; Yun LI ; Beisha TANG ; Jianguang TANG ; Ping ZHONG ; Liang SHANG ; Yimin SUN ; Guixian ZHAO ; Xiuhe ZHAO ; Hongfu LI ; Jiong HU ; Jieling JIANG ; Chao ZHANG ; Xinghua LUAN ; Yuwu ZHAO ; Wotu TIAN ; Feixia ZHAN ; Xiaohang QIAN ; Huidong TANG ; Yuyan TAN ; Chunkang CHANG ; Youshan ZHAO ; Li CAO
Chinese Journal of Neurology 2021;54(11):1109-1118
		                        		
		                        			
		                        			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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