Objective To investigate the clinical features of Menkes disease(MD)caused by ATP7A gene mutation.Methods Clinical data of one MD patient was retrospectively analyzed,and the literature on the MD cases was reviewed.Results The patient was a 7-month-old male.The initial symptoms were epilepsy,feeding difficulties and psychomotor retardation,followed by distinctive facial appearance,hair abnormality,pectus excavatum and hypotonia.Biochemical tests revealed reduced serum ceruloplasmin and copper.Brain MRI showed diffuse cerebral atrophy,cerebral dysplasia and subdural effusion.Genetic testing showed that there was a new hemizygous mutation c.2916+2(IVS14)T＞C in the ATP7A gene splicing site on the X chromosome,which verified that the mother was a heterozygous carrier with a normal phenotype.Conclusions MD often starts in infancy and childhood.MD may involve multi-system such as the nervous system and connective tissues,and should be diagnosed with genetic testing.

Blood brain barrier (BBB) injury is the main pathological manifestation of many neurological diseases. Glycocalyx is the gel layer covering the lumen side of vascular endothelial cells, which plays an important role in regulating BBB function. However, glycocalyx is very fragile and easily damaged in various neurological diseases, leading to BBB destruction. This article focuses on the potential role of glycocalyx in cerebrovascular disease, the possible mechanisms related to glycocalyx and BBB injury, and explores the potential therapeutic strategies for protecting and restoring endothelial glycocalyx.

Endoscopic resection(ER)and laparoscopic surgery are the main methods for treatment of early gastric cancer(EGC).Radical gastrectomy(RG)and lymph node dissection are required for the patients who don't meet the indications of ER,but it may cause postoperative stomach dysfunction and reduce quality of life(QOL).Pylorus-preserving gastrectomy(PPG)is one of the function-preserving gastrectomy for EGC.The short-term complications of PPG are equal to that of RG and it is also beneficial to long-term nutritional status and QOL.The 5-year survival rate of PPG is similar to that of distal subtotal gastrectomy(DSG)according to a retrospective study of the matched cohort.But delayed gastric emptying(DGE)is a common problem in the short and long term after PPG.The limited lymph node dissection of PPG makes its application not widely promoted.Sentinel node navigation surgery(SNNS)may provide more personalized and minimally invasive surgery,in order to preserve the gastric function to the maximum extent.

O'Sullivan-Mcleod syndrome is a very rare variant of MND with a good prognosis. Its clinical feature is distal lower motor neuron syndrome of both upper limbs, and there is no effective treatment at present. We reported a case of O'Sullivan-Mcleod syndrome in this paper.The patient exhibited with middle-aged progressive distal muscle weakness and atrophy of both upper limbs, without sensory, cognitive or behavioral impairment and without pyramidal tract sign. Laboratory examination, imaging and genetic tests showed no obvious abnormalities. EMG revealed neurogenic damage to the small muscles of both hands. Now we retrospectively analyzed the clinical features of a patient with O'Sullivan-McLeod syndrome, and data from 18 cases for comparative analysis, in order to improve its understanding by clinicians.

Objective To establish the reference values and evaluate influence factors of turns-amplitude clouds for healthy Chinese.Methods We recruited 59 healthy subjects From July 2017 to December 2017 in Nanfang Hospital,Southern Medical University,including 34 males and 25 females,who were divided into young group (15-39 years old),middle-aged group (40-64 years old) and the elderly group (over 65 years),respectively.The number of turns (NT) and mean amplitude (MA) normative data of sternocleidomastoid muscle,deltoid muscle,biceps brachii muscle,extensor digitorum muscle,abductor digiti minimi muscle,quadriceps femoris muscle,tibialis anterior muscle,and gastrocnemius muscle were obtained by using concentric needle electrodes.A total of 20-30 records were collected from each muscle in different degree of contraction.A linear regression of lg(MA-100) versus lgNT was made and the slope,intercept,the 95％ confidence interval of intercept,the largest MA and largest NT were calculated for each muscle.The influence factors,such as gender,age,muscles,and dominant limbs on the shape of cloud were evaluated by using the Chow breakpoint test.Results Normal turns-amplitude clouds were obtained and presented in this article.Muscle and age were found to be the main influence factors affecting the shape of cloud,and gender may affect some clouds,while the dominant limbs had little influence on the shape of the cloud.Conclusion The reference values of turns-amplitude cloud based on muscle,gender and age are of practical significance in clinic.

Objective To analyze the influence of general anesthesia (GA) on bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in treating Parkinson's disease (PD) through microelectrode recording (MER),and discuss the differences between different modes of anesthesia.Methods A retrospective analysis was performed on clinical data of 31 PD patients accepted bilateral STN-DBS in our hospital from June 2015 to June 2017.Nine patients accepted surgery under GA (A group):4 patients were treated with intravenous anesthesia (A1 group),and 5 patients were treated with inhalation anesthesia (A2 group);22 patients accepted surgery under local anesthesia LA group.MER indexes,including STN discharge frequency,STN recorded length,and maximum target error,and short-term (6 months) efficacy were recorded.A linear regression analysis was performed to find possible influence factors on discharge frequency and improving rate of UPDRS scores.Results The discharge frequencies of B group,A1 group and A2 group were 51.42 Hz±6.28 Hz,35.79 Hz±7.02 Hz and 43.18 Hz±5.87 Hz,respectively,with significant differences (F=12.181,P=0.000);as compared with that in the B group,the discharge frequencies of A1 group and A2 group were significantly lower (P＜0.05).The STN recorded lengths of B group,A1 group and A2 group were 5.48 mm±0.33 mm,5.06 mm±0.15 mm and 5.22 mam±0.16 mm,respectively,with significant differences (F=4.115,P=0.027);as compared with that in the B group,the recorded lengths of A1 group and A2 group were significantly shorter (P＜0.05).A1 group had the maximum target error,but no significant differences were noted among the 3 groups (P＞ 0.05).Six months after the surgery,the UPDRS-Ⅲ scores and Schwab-England scores of A group and B group were decreased and daily levodopa equivalent (LEDD) was decreased.As compared with B group,A group had significantly better improvement in Hoehn & Yahr grading (P＜0.05).Disease durations were positively correlated with discharge frequency (r=0.539,P=0.002);age and improving rate of UPDRS scores were negatively correlated (r=-0.572,P=-0.001);preoperative LEDD and improving rate of UPDRS scores were positively correlated (r=0.725,P=-0.000).Conclusions Bilateral STN-DBS performed under GA in PD enjoys good efficacy,which shows no obvious difference as compared with that under LA.Inhalation anesthesia had less influence on electrophysiology than intravenous anesthesia.

Objective To analyze quantitatively the safety and efficacy of statin therapy in acute phrase for acute ischemic stroke with the method of meta-analysis.Methods We performed a systematic literature search including the Cochrane Library,MEDLINE and EMBASE for published trials about statin therapy and the outcomes of acute ischemic stroke.Then we performed a meta-analysis with included studies to investigate the association between statin therapy and clinical outcome and mortality.All of the data were pooled and meta-analyzed by Cochrane Collaboration RevMan 5.3 meta-analysis software.Statistical heterogeneity between studies was evaluated by the chi-square and I-square tests.Forest plots were used to summarize study data and Egger tests were used to assess publication bias.Results A total of 27 studies including 52 034 patients,comprising 19 212 statin users and 32 822 non-statin users met the inclusion criteria,4 studies were randomized controlled trials (RCTs),and 23 were observational trials (OTs).Both pre-or post-stroke statin use was associated with reduced mortality.Statin use is associated with favorable functional outcome at hospital discharge and on the ninetieth day regardless of initiation time for pre-stroke group and post-stroke group.The results from observational trials were consistent with randomized controlled trials.There was no evidence of publication bias for all comparisons by Egger tests.Conclusions Statin therapy before or after AIS is safe and effective.

Objective To investigate the risk factors for bacterial pneumonia and the predictive value of early serum procalcitonin (PCT) level for bacterial pneumonia and sepsis classification in patients with acute stroke. Methods The patients with acute stroke in neurological intensive care unit were enroled retrospectively and divided into either a bacterial pneumonia group or a non-infection group according to whether they had bacterial pneumonia or not. The former was redivided into a non-severe sepsis subgroup and a severe sepsis subgroup according to the sepsis classification. The demographics, baseline clinical data, and PCT level (the bacterial pneumonia group was the PCT level when infection occurred, the non-infection group was the PCT level within 24 h of admission) were compared. Multivariate logistic regression analysis was used to identify the independent risk factors for bacterial pneumonia. Receiver operator characteristic (ROC) curve was used to analyze the predictive value of serum PCT level for bacterial pneumonia and sepsis
classification. Results A total of 164 patients with acute stroke were enroled in the study, including 114 in the bacterial pneumonia group (66 in the non-severe sepsis subgroup and 48 in the severe sepsis subgroup) and 50 in the non-infection group. There were significant differences in age, fasting blood glucose level, Glasgow coma scale (GCS) score, and PCT level between the bacterial pneumonia group and the non-infection group (P < 0. 05 ). Multivariate logistic regression analysis showed that fasting blood glucose level ≥7 mmol/L (odds ratio [ OR] 8. 488, 95% confidence interval [ CI] 2. 739 - 26. 300; P < 0. 01), GCS score ≤8 (OR 11. 361, 95% CI 2. 175 - 59. 352; P < 0. 01), and PCT level ≥0. 050 ng/ml (OR 16. 715, CI 5. 075 - 55. 049; P < 0. 01) were the independent risk factors for bacterial pneumonia. In the bacterial pneumonia group, the PCT level (median; interquartile range) in the severe sepsis subgroup was significantly higher than that in the non-severe sepsis subgroup (0. 835 [ 0. 164 - 1. 715 ] ng/ml vs. 0. 114 [0. 073 - 0. 275 ] ng/ml; Z = 4. 818, P < 0. 01 ). ROC curve analysis showed that PCT ≥0. 070 ng/ml could better predict the occurrence of bacterial pneumonia in patients with acute stroke, with sensitivity of 84. 2% , specificity of 74. 0% and the area under the ROC curve of 0. 865 (CI 0. 806 - 0. 924, P < 0. 01); PCT 0. 669 ng/mlcould better predict the occurrence of severe sepsis in acute stroke patients with bacterial pneumonia, with sensitivity of 56. 3% , specificity of 92. 4% and the area under the ROC curve of 0. 765 (CI 0. 672 - 0. 858; P < 0. 01). Conclusions The early PCT level ≥0. 050 ng/ml was an independent risk factor for occurring bacterial pneumonia in patients with acute stroke, its level had certaln predictive value for bacterial pneumonia and the severity of infection.

Objective To evaluate the changes ofcerebrovascular reserve (CVR) of patients with obstructive sleep apnea hypopnea syndrome (OSAHS) by transcranial cerebral doppler (TCD) and to study its relation with stroke.Methods One hundred and twenty-six patients with OSAHS,admitted to our hospitals from July 2012 to January 2013 and diagnosed as having OSAHS,were chosen in our study;they were divided into mild OSAHS group (n=49),moderate OSAHS group (n=44) and severe OSAHS group (n=33) according to test results of polysomnography (PSG).Another 40 healthy controls were collected.The CVR of all subjects were evaluated by TCD merging with CO2 experiment and compared among different groups.All the subjects were accepted continued two-year follow-up and recorded the accidents of stroke.The morbidities of stroke were compared between different groups.Results As compared with those in the control group and mild OSAHS group,all of the contractile reserve,dilatation reserve and overall reserve descended in moderate OSAHS group and severe OSAHS group with statistically significant differences (P＜0.05).As compared with those in the moderate OSAHS group,all of the contractile reserve,dilatation reserve and overall reserve descended in severe OSAHS group,and the differences were statistically significant (P＜0.05).In the two years of follow-up,the incidence of stroke in the severe OSAHS group (12.12％) was significantly higher than that in the control group (0％),mild OSAHS group (0％) and moderate OSAHS group (4.55％,P＜0.05).Conclusion The heavier the condition of OSAHS,the more obviously descended the CVR;the stroke morbidity of severe OSAHS patients is increased significantly.

Objective To investigate the predictive value of the 40 Hz auditory steady state response (40-Hz ASSR) in the short-term prognosis of patients with brainstem stroke.Methods The 40-Hz ASSR and brainstem auditory evoked potentials (BAEP) examinations were recorded and graded from 36 patients with brainstem stroke admitted in the Neurological Intensive Care Unit (NICU). Tue end point of short-term prognostic evaluation was at the time of leaving the NICU. Tue patients with brainstem stroke were divided into the survival group (n =21) and the death group (including brain death,n = 15). The correlation between the grade of the 40-Hz ASSR or BAEP and the short-term prognosis was analyzed. Results The grade of the 40-Hz ASSR (r=0.571,P =0.000) or BAEP (r =0.441,P =0.001 ) was significantly correlated with the short-term prognosis in patients with brainstem stroke. The sensitivity,specificity and accuracy of the 40-Hz ASSR were 60.00％,100％ and 83.33％,respectively,and those for BAEP were 66. 67％,71.43％ and 69. 44％,respectively. Conclusions Tue 40-Hz ASSR has a certain short-term prognostic value in patients with brainstem stroke. The higher the grade of 40-Hz ASSR is,the more serious the illness,and the worse the prognosis.