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.

Objective To explore the role of balloon-assisted coil embolization for ruptured wide-necked posterior communicating aneurysms in elderly patients. Methods Twenty-nine elderly patients with ruptured wide-necked posterior communicating aneurysms, admitted to and accepted balloon-assisted coil embolization in our hospital from September 2016 to December 2017, were chosen in our study. Eighteen patients had 0-2 of modified Rankin scale (mRS) scores on admission, 7 had 3 scores, and 4 had 4 scores. Twenty-one patients had Hunt-Hess grading I-II, and 8 had Hunt-Hess grading III-IV. Clinical data and treatment efficacy of the patients were retrospectively analyzed. Results Twenty-eight aneurysms were embolized successfully by balloon-assisted coil technique; one aneurysm due to unstable coil frame was treated by stent remolding. Raymond grading 1 was noted in 25 aneurysms and Raymond grading 2 in 4 aneurysms according to immediate post-embolization angiographic results. The mRS scores were 0-2 in 24 patients, 3 in 2 patients and 4 in one patient. Two patients died from systemic diseases (acute pneumonia with diabetic ketoacidosis and heart stroke). Three patients had complications associated with operation, including one with intraoperative aneurysmal rupture, one with laterality limb weakness, and one with contralateral limb paralysis; all recovered after treatment. Conclusion The balloon-assisted coil embolization is safe and effective for coil embolization for ruptured wide-necked posterior communicating aneurysms in elderly patients.

Aim To evaluate the efficacy and safety of different routes for vinpocetine injection by intravenous or trans-angiographic catheter on cerebral vasospasm(CVS).Methods A total of 105 aneurysmal subarachnoid hemorrhage(aSAH)patients with CVS following intracranial aneurysm embolization were chosen and randomly divided into group C, B and A, with 35 cases in each group.Patients in group C were treated with 3H therapeutic regimen, while those in group B and A were with 3H therapeutic regimen plus vinpocetine by intravenous injection or trans-angiographic catheter, respectively.The index including middle cerebral artery(MCA) blood flow velocity, National Institutes of Health stroke scale(NIHSS) score, Glasgow outcome scale(GOS) grading, clinical efficacy, hypotension rate and rehaemorrhagia rate were detected and compared among three groups.Results After the 7 d and 14 d treatment, the MCA blood flow velocity of group A and B was observed to be significantly lower than that of group C(P<0.05), and the MCA blood flow velocity of group A was significantly lower than that of group B(P<0.05).The NIHSS score of group A and B was significantly lower than that of group A(P<0.05), and the score of group A was significantly lower than that of group B(P<0.05) following 28 d treatment.Moreover,the clinical efficacy of group A and B was significantly higher than that of group C(P<0.05), and the clinical efficacy of group A was significantly higher than that of group B(P<0.05).After the 28 d treatment, the hypotension rate of group B was found to be significantly higher than that of group C and A(P<0.05), while there was no statistical difference(P>0.05) observed in the hypotension rate between group A and C.Also, there was no statistical difference(P>0.05)found in the rehaemorrhagia rate among three groups.However, the GOS grading of group A and B was significantly better than that of group C(P<0.05), and the grading of group A was significantly better than that of group B(P<0.05)after 3 months treatment.Conclusions Using vinpocetine by intravascular injection or by trans-angiographic catheter could be the efficient treatment for the CVS after intracranial aneurysm embolization, and vinpocetine injection by trans-angiographic catheter is the better mode of administration with the consideration of efficacy and safety.

Objective To evaluate the efficacy of unilateral atlanto-axial transpedicle screw fixation plus iliac bone graft for treatment of unstable atlas fractures combined with unilateral pedicle dysplasia or comminuted fractures.Methods A retrospective case control study was made on 44 patients with unstable atlas fractures surgically treated between January 2012 to June 2016.Unilateral atlanto-axial transpedicle screw fixation combined with iliac bone graft was performed for 22 patients combined with unilateral pedicle dysplasia or comminuted fractures in Group A[15 males,seven females;(37.5 ± 13.4)years],and bilateral atlanto-axial transpedicle screw fixation combined with iliac bone graft was performed for 22 patients without unilateral pedicle dysplasia or comminuted fractures in Group B [14 males,eight females;(38.1 ± 13.3)years].Between-group differences were compared concerning operation time,intraoperative blood loss,length of hospital stay,success rate of screw placement,postoperative atlantoaxial stability,surgery-related complications,visual analog scale (VAS),Japanese orthopedic association score (JOA) and bone fusion.Results Mean duration of follow-up was 28.4 months (range,14-48 months).In Group A,operation time was (123.4 ± 18.2) min,blood loss was (218.5 ± 80.2) ml,hospital stay was (7.1 ± 1.0)d,success rate of screw placement was 100％,postoperative atlanto-axial stability of all patients was obtained,and no complications occurred.In Group B,operation time was (173.4 ± 12.4) min,blood loss was (318.2 ± 61.7) ml,hospital stay was (7.2 ± 0.8) d,success rate of screw placement was 100％,postoperative atlanto-axial stability of all patients was obtained,and no complications occurred.There were significant differences in operation time and blood loss between the two groups (P ＜0.01),while not in hospital stay,success rate,postoperative atlant-oaxial stability,complication incidence,VAS and JOA (P ＞ 0.05).Conclusion Both treatments are effective,but unilateral atlanto-axial transpedicle screw fixation combined with iliac bone graft is associated with relatively shorter operation time and less blood loss and hence is considered as a better choice for treatment of unstable atlas fractures.

[Abstrict]Objective To explore the key points and clinical value of combined direct and indirect extracranial-in?tracranial (EC-IC) bypass in patients with adult moyamoya disease. Methods Retrospective analysis of combined revas?cularization surgery in 25 adult patients with moyamoya disease. The frontal branch and parietal branch of the superficial temporal artery (STA) were dissected. Combined revascularization surgery consisted of direct (anastomosis between the su?perficial temporal artery and cortical branch of the middle cerebral artery) and indirect (encephalodurogaleosynan-giosis EDAS) surgeries. Clinical status was evaluated using the modified Rankin Scale and NIHSS score at 1 day before, 1 week and 3 months after surgery. Results Thirty lateralities were successfully performed on 25 patients. Postoperative angiogra?phy or CTA and cranial computer tomography perfusion imaging(CTP) were conducted to examine the patency of the di?rect anastomosis and cerebral blood flow in 23 patientswithin 1 weeks after surgery . The results showed that the anasto?motic vascular patency was excellent and the cerebral blood flow increased in parallel to the relief of the patients’s isch?emic symptoms. The median mRS scores were 3 (1,3) before surgery, 2 (1,3) 1 week and 1 (0,3) 1 month after surgery.The median mRS scores were significantly improved (Z=15.14, P<0.01). The median NIHSS scores was 5 (4,8) preopera?tively and 4(2,7) postoperation 1 week and 3(1,4) 3 months. The median NIHSS scores were also significantly improved (Z=11.36, P<0.01). Unfortunately, two patients had complication and left hemiparesis. One patient complicated with con?tralateral hemisphere infarction and the another one complicated with ipsilateral hemispheric hemorrhage after operation. Conclusions Combined revascularization surgery may result in satisfying improvement in clinical, angiographic, and he?modynamic states and prevention of recurrent stroke. The stabilized hemodynamic is the key point in peroperative period for moyamoya patients.

A total of 105 patients with first-episode schizophrenia (male =51,female =54) and 99 normal controls (male =51,female =48) were included into this retrospective case-control study.Childhood trauma questionnaire-28 item short form (CTQ-SF) was used to assess the experience of childhood abuse.The result of binary logistic regression showed that emotional abuse (β =0.630,P ＜ 0.05) and emotional neglect(β =0.270,P ＜ 0.05) were included into the final model of predicting schizophrenia.It indicates that patients with first-episode schizophrenia experienced more early life stress than controls.Particularly emotional abuse and emotional neglect may play important roles in the onset of schizophrenia.

ObjectiveTo investigate norovirus infection status and indentify its epidemiological characteristics and genotype distribution in infantile viral diarrhea in Jiangsu.MethodsFour hundred and ninety-eight fecal specimens of infantile virus diarrhea cases were collected from Suzhou Children's hospital and Nanjing Children's hospital in 2010.Norovirus genegroup were detected by real-time RT-PCR,and genetype were determined by sequence analysis.Results Among all fecal specimens,2 (0.4％) cases were positive for norovirus G Ⅰ,and 190 (38％) cases for G Ⅱ.Nucleotide sequence analysis revealed that in the 2 samples for G Ⅰ,one strain was G Ⅰ 1 and another was G Ⅰ 3.Twenty-one strains were belonged to G Ⅱ 4 and 2 strains were G Ⅱ 3 in the 23 samples for G Ⅱ.ConclusionAs one of the most important pathogens causing infantile viral diarrhea in Jiangsu province,subtype G Ⅱ 4 was the main epidemic strain of norovirus,meanwhile other genotypes also existed.

Objective To study the expression of hypoxia inducible factor-lalpha (HIF-1α) and eyclooxygenase-2 (COX-2) in gastric carcinoma and its correlation with lymph node metastasis and microvascular density (MVD). -Methods HIF-1α and COX-2 expression were detected by immunohistochemistry in 64 cases of gastric carcinoma and 15 cases of normal gastric mucosa tissues, MVD of the section marked with CD34 antibody was calculated. Results The positive rates of HIF-1α and COX-2 in 64 cases of gastric carcinoma were 67.19% and 78.13% respectively. The expressions of HIF-1α and COX-2 were significantly higher in gastric carcinoma than in normal gastric mucosa tissue(P < 0.05). The expressions of HIF-1α and COX-2 in gastric carcinoma were significantly associated with TNM stage, invasive depth and lymph node metastasis (P< 0.05) except for patient's age, sex and tumor grade.There were positive correlation between HIF-1α expression with COX-2 (rs=0.584, P<0.01). The MVD of cases with positive HIF-1α expression(36.78±10.46) was significantly higher than those without HIF-1α expression(17.92±3.71), the MVD of cases with positive COX-2 expression(37.59±10.75) was also higher than those without COX-2 expression (18.43±4.15). The expression of HIF-1α and COX-2 was associated with MVD(rs=0.624, 0.697, P<0.01). Conclusion HIF-1α and COX-2 play important roles in the pathway of carcinogenesis and progression of gastric carcinoma, and they may contribute to tumor angiogenesis through the same way, thus combined detection of HIF-1α and COX-2 may be recommended for diagnosis of gastric cancer and estimation of prognosis.

To identify the regulatory region that are responsible for the expression of mPC-1, we have isolated and characterized the mPC-1 gene promoter. Sequence analysis of the mPC-1 5' -flanking region and a series of truncated constructs were performed, which were transiently transfected into the prostate cancer cell lines and non-prostate cancer cell lines and analyzed through Dual-luciferase reporter assay system. The relative activity of mPC-1 gene promoter was by far higher than pGL3-control containing SV40 promoter and enhancer and p61-PSA containing hPSA 6 kb promoter in AR (androgen receptor, AR ) -positive prostate cancer cell lines. The region from 599 bp to 449 bp of mPC-1 promoter might contain a negative regulatory element. The expression of mPC-1 1.1 kb fragment is mainly restricted into prostate cancer cell lines. The relative activity of mPC-1 1.1 kb 5'-flanking region was regulated by androgen. The results demonstrated that the 1.1 kb fragment of mPC-1 5' -flanking region was relatively strong and prostate cancer cell specific promoter region.The 1.1 kb promoter of mPC-1 gene might be well suited to prostate cancer gene therapy if the promoter was properly modified.

OBJECTIVETo observe long-term functional recovery after contralateral C7 transfer.

METHODSFrom August 1986 to July 2000, 224 patients with brachial plexus avulsion injuries were treated with contralateral C7 transfer in our department. Thirty-two patients were followed up for over 2 years for evaluation of the following items: 1 influence on healthy limb function; 2 sensory and motor recovery of the recipient nerves in the affected limb; and 3 coordination between the healthy and affected limbs.

RESULTSThere was no impairment of healthy limb function. Functional recovery of the recipient area reached > or =M3 in 8 patients (8/10, 80%) after musculocutaneous nerve neurotization, > or =M3 in 4 patients (4/6, 66%) after radial nerve neurotization, > or = M3 in 7 patients (7/14, 50%) and > or = M3 in 12 patients (85.7%) after median nerve neurotization, and > or = M3 in 1 patients (1/2, 50%) after thoracodorsal nerve neurotization. Synchronic contraction of the affected limb with the healthy limb occurred within 2-3 years in 12 patients, within 5 years in 13 patients, and over 5 years in 7 patients.

CONCLUSIONContralateral C7 transfer is an ideal procedure for the treatment of brachial plexus root avulsion injury. Selection of the whole root or the posterior division as neurotizer and a staged operation are the major factors influencing treatment outcome.

Adolescent ; Adult ; Brachial Plexus ; injuries ; surgery ; Child ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Motor Activity ; Nerve Transfer ; methods