First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL.

OBJECTIVE: To explore Notch3 mutation sites of Chinese patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: Direct sequencing of all exons in Notch3 gene was performed on 12 unrelated suspected CADASIL cases from mainland China. RESULT: A missense p.Arg587Cys (1759C>T) mutation in exon 11 was identified in 2 patients through genetic analysis. CONCLUSION: Chinese patients with CADASIL of R587C mutation in exon 11 was firstly reported.

Rupture during the endovascular treatment of intracranial aneurysms: outcomes and technical aspects.

OBJECT: The purpose of this study was to determine the incidence and outcomes of intraprocedural rupture (IPR) during endovascular coil embolization of intracranial aneurysm at a single center and to explore the technical reasons and put forward corresponding preventive measures for the feared event to serve as references for other endovascular specialists. METHODS: The aneurysm database in our series was retrospectively reviewed. From April 2005 to March 2009, 176 aneurysms were consecutively treated with coils in 161 patients and IPR occurred in 12 patients. The medical records for the 12 patients were seriously examined. RESULTS: Of the 12 patients (6.8 %), four were men and eight were women with a median age of 56 years. An emergency "rescue clipping" of the lesion was carried out in two patients, parent artery occlusion was performed in two cases, endovascular treatment was terminated in one case and aneurysm coiling was rapidly completed in the remaining seven cases. Complete occlusion was achieved in nine aneurysms and incomplete occlusion in one. One patient died, yielding a mortality rate of 8.3 %. The follow-up duration was 6-30 months (median 14 months) and the mean Glasgow Outcome Scale score at the last follow-up examination was 4.3. CONCLUSIONS: The rate of IPR during endovascular coiling of intracranial aneurysms is quite low and the clinical outcome from this complication need not be catastrophic if managed appropriately. Improved operation skill and practical experience exchange among neuroradiologists are essential to lower the incidence or better patient prognoses.

[Clinical observation on the prevention and treatment of perioperative delayed cerebrovasospasm in patients with aneurysmal subarachnoid hemorrhage by the comprehensive protocol of integrative medicine].

OBJECTIVE: To investigate the efficacy and safety of the comprehensive protocol of integrative medicine in preventing and treating perioperative delayed cerebrovasospasm (DCVS) in patients with aneurysmal subarachnoid hemorrhage (aSAH). METHODS: Using a prospective randomized controlled trial design, 63 aSAH inpatients were assigned to the treatment group (31 cases, 24 treated by intervention treatment and 7 by craniotomy) and the control group (32 cases, 26 treated by intervention treatment and 6 by craniotomy). All patients were treated with basic therapy and nimodipine. Those in the treatment group additionally took naomai jiejing decoction No. 1 and No. 2. The incidence and the mortality of DCVS, re-bleeding, hydrocephalus were compared on the 180th day. The middle cerebral artery mean flow velocity (Vm), PI value, linde-gard index on day 1, 3, 7, and 14 were compared. The Chinese medicine syndrome score, NIHSS, and revised Rankin questionnaire on day 1, 14, and 180 were compared. RESULTS: The DCVS occurred in 9 cases (29. 0%) of the treatment group and 17 patients (53.1%) of the control group, showing statistical difference (P < 0.05). The occurrence of re-hemorrhage was obviously lower in the treatment than in the control group (3.2% vs. 6.2%), showing statistical difference (P < 0. 05). There was no statistical difference in the mortality (6.4% vs. 9.4%) or the occurrence of hydrocephalus (29.0% vs 25.0%, P > 0.05). The Vm, PI, and linde-gard index on day 7, the Vm and linde-gard index on day 14 were obviously lower in the treatment group than in the control group (P < 0.05). The Chinese medicine syndrome score and NIHSS on day 14 and 180 were lower in the treatment group than in the control group, showing statistical difference (P < 0.05). CONCLUSION: The comprehensive protocol of integrative medicine could reduce the incidence of aSAH patients' DCVS, the Chinese medicine syndrome score and NIHSS, and improve their clinical symptoms.

The Effects of Electroacupuncture as an Adjunct Therapy on Poststroke Aphasia: A Systematic Review and Meta-Analysis.

Background: To systematically collate, appraise, and synthesize evidence of electroacupuncture (EA) as an adjunct therapy for poststroke aphasia (PSA) from randomized controlled trials (RCTs) through a systematic review and meta-analysis. Methods: An electronic search was conducted in eight databases to identify RCTs evaluating EA adjuvant therapy versus speech and language therapy (SLT). Methodological quality of the included trails was assessed by the Cochrane risk of bias. The software Review Manager 5.4 was used for data analysis. Results: Nineteen RCTs enrolling a total of 1263 subjects were identified. The use of EA combined with speech and language therapy (SLT) showed significant improvements in effective rate (RR 1.31, 95% CI [1.21, 1.41]), oral expression score (SMD 1.34, 95% CI [1.13, 1.56]), comprehension score (SMD 1.95, 95% CI [0.88, 3.03]), repetition score (SMD 1.84, 95% CI [0.75, 2.93]), naming score (SMD 1.97, 95% CI [0.81, 3.13]), and reading score (SMD 1.55, 95% CI [1.07, 2.04]) compared to the use of SLT alone. Conclusions: The pooled data indicate that EA combined with SLT for the treatment of PSA may improve clinical effectiveness, compared with SLT alone. Future high quality RCTs with large samples are still needed to confirm and expand our findings.

Efficacy and Safety of a Novel Thrombectomy Device in Patients With Acute Ischemic Stroke: A Randomized Controlled Trial.

Purpose: The Tonbridge stent is a novel retriever with several design improvements which aim to achieve promising flow reperfusion in the treatment of acute ischemic stroke (AIS). We conducted a randomized controlled, multicenter, non-inferiority trial to compare the safety and efficacy of the Tonbridge stent with the Solitaire FR. Methods: AIS patients aged 18-85 years with large vessel occlusion in anterior circulation who could undergo puncture within 6 h of symptom onset were included. Randomization was performed on a 1:1 ratio to thrombectomy with either the Tonbridge stent or the Solitaire FR. The primary efficacy endpoint was successful reperfusion using a modified thrombolysis in cerebral infarction score (mTICI) of 2b/3. Safety outcomes were symptomatic intracranial hemorrhage (sICH) within 24 ± 6 h and all-cause mortality within 90 days. A clinically relevant non-inferiority margin of 12% was chosen as the acceptable difference between groups. Secondary endpoints included time from groin puncture to reperfusion, National Institutes of Health Stroke Scale (NIHSS) score at 24 h and at 7 days, and a modified Rankin Scale (mRS) score of 0-2 at 90 days. Results: A total of 220 patients were enrolled; 104 patients underwent thrombectomy with the Tonbridge stent and 104 were treated with the Solitaire FR. In all test group patients, the Tonbridge was used as a single retriever without rescuing by other thrombectomy devices. Angioplasty with balloon and/or stent was performed in 26 patients in the Tonbridge group and 16 patients in the Solitaire group (p = 0.084). Before angioplasty, 86.5% of those in the Tonbridge group and 81.7% of those in the Solitaire group reached successful reperfusion (p = 0.343). Finally, more patients in the Tonbridge group achieved successful reperfusion (92.3 vs. 84.6%, 95% CI of difference value 0.9-16.7%, p < 0.0001). There were no significant differences on sICH within 24 ± 6 h between the two groups. All-cause mortality within 90 days was 13.5% in the Tonbridge group and 16.3% in the Solitaire group (p = 0.559). We noted no significant differences between groups on the NIHSS at either 24 h or 7 days and the mRS of 0-2 at 90 days. Conclusion: The trial indicated that the Tonbridge stent was non-inferior to the Solitaire FR within 6 h of symptom onset in cases of large vessel occlusion stroke. Clinical Trial Registration:ClinicalTrials.gov, number: NCT03210623.

[Application of neuroendoscopy in brain surgery].

OBJECTIVE: To investigate the effect of neuroendoscope on surgery. METHODS: 315 patients were treated with neuroendoscope. Endoscopic neurosurgery (EN) was used in 219 patients, endoscope-assisted microneurosurgery (EAM) in 72, and endoscope-controlled microneurosurgery (ECM) in 24. RESULTS: 201 (91.8%) of the 219 patients underwent EN effectively. In 72 patients who underwent EAM there was less retraction during tumor removal and visual control was improved. 21 (87.5%) of the 24 patients underwent ECM effectively. No severe complications were observed. CONCLUSION: Neuroendoscopy can reduce tissue trauma, improve visualization during tumor removal, and reduce complications.

[Quality of life and its influencing factors of advanced schistosomiasis patients in Qingpu District, Shanghai].

OBJECTIVE: To assess the quality of life (QOL) of advanced schistosomiasis patients, and understand its influencing factors. METHODS: A questionnaire survey was carried out by using WHOQOL-BREF, and the information of demography, family, illness, health status, and health service was collected. RESULTS: Among the 217 advanced patients, the average age was (75.33 ± 6.94) years, the ratio of male to female was 2:5, 89.86% of them were farmers, 75.58% were illiterate or semi-illiterate, and 88.94% belonged to the splenomegaly type. Totally 61.29% of the cases had the scores over average for the overall QOL, but the scores for the health and well-being were lower. There were a significant difference among the average scores of different domains of QOL (χ2 = 23.46, P < 0.01). Both the year of being diagnosed and clinical classification was not associated with the scores of QOL. Regularly taking physical activities was significantly associated with each of all the 4 domains. The factors such as onset of acute disease in 2 weeks, taking therapeutic pills daily, marital status, age, etc. impacted the specific domains of QOL. The overall QOL and the 4 domains of the patients were at medium level; meanwhile, the score of physiological domain was lower than the scores of the other 3 domains. CONCLUSIONS: The QOL(s) of advanced schistosomiasis patients in Qingpu District are relatively good. It is important to provide effective community health services and encourage the patients to take part in tempered sports or physical activities in order to keep their normal activities of daily living.

[Simulation experiment of survival and reproduction of artificially imported Oncomelania snails in Qingpu District, Shanghai].

OBJECTIVE: To understand the survival of imported Oncomelania snails in new environments with different densities in waterway net region, Qingpu District, Shanghai. METHODS: The snails collected from Guichi, Anhui Province were put into the ponds of 4 square meters and each had 25, 50, 100, 200, 400 and 800 pairs of snails, respectively. During the next 2 years, the temperature, humidity, the activities of snails and their second birth snails were investigated each day. All the data were analyzed statistically. RESULTS: The highest number of snails appeared from May to June on the surface of soils in different densities. The average numbers of snails were 2.0%-12.7% of whole put in snails, and the numbers of offspring were less than 2% of the whole put in snails. CONCLUSION: The survival and reproduction of artificially imported Oncomelania snails from Guichi, Anhui Province is not good in Qingpu District, Shanghai.

The chinese (cantonese) montreal cognitive assessment in patients with subcortical ischemic vascular dementia.

BACKGROUND: Subcortical ischemic vascular dementia (SIVD) has been proposed as the most frequent subtype of vascular cognitive impairment. The aim of this study was to evaluate the psychometric properties of the Chinese (Cantonese) Montreal Cognitive Assessment (CC-MoCA) in patients with SIVD in the Guangdong Province of China. METHODS: 71 SIVD patients and 60 matched controls were recruited for the CC-MoCA, Mini Mental State Examination and executive clock drawing tasks. Receiver-operating characteristic curve analyses were performed to determine optimal sensitivity and specificity of the CC-MoCA total score in differentiating mild vascular dementia (VaD) patients from moderate VaD patients and controls. RESULTS: The mean CC-MoCA scores of the controls, and mild and moderate VaD patients were 25.2 ± 3.8, 16.4 ± 3.7, and 10.0 ± 5.1, respectively. In our study, the optimal cutoff value for the CC-MoCA to be able to differentiate patients with mild VaD from controls is 21/22, and 13/14 to differentiate mild VaD from moderate VaD. CONCLUSION: The CC-MoCA is a useful cognitive screening instrument in SIVD patients.

[Preliminary observation on survival and reproduction of imported Oncomelania snails in water network regions: a simulated experiment].

OBJECTIVE: To observe the survival and reproduction of exotic imported Oncomelania snails in water network regions. METHODS: During a period between May 22, 2008 and August 7, 2009, a study pilot was established in a historical snail habitat in Qingpu District of Shanghai City. A total of 12 soil samples were collected from Qingpu, Jinshan and Songjiang districts and placed in the study area. Active marked adults snails without infections (with a female/male ratio of 1) were placed on soil surface, and the activity, survival and reproduction of snails on soil surface were observed. The temperature during the period of the study was recorded. RESULTS: During the experiment period, the highest temperature was 39 degrees C, the lowest was -3 degrees C, and the average was 20 degrees C. The activity of snails reduced significantly on the soil surface at high temperature in summer and low temperature in winter. There were 91 old snails (5.2%) that moved on soil surface in March and 73 (12.2% ) in June, 2009. A total of 26 and 59 offspring snails were found respectively in April and June, 2009, with average density of 2.17 snails/m2 (26/12) and 4.92 snails/m2 (59/12) respectively. CONCLUSIONS: The exotic imported snails can survive and reproduce in water network regions. Further monitoring should be strengthened on the imported snails in these regions.

Identification of spatial genetic boundaries using a multifractal model in human population genetics.

There are two purposes in displaying spatial genetic structure. One is that a visual representation of the variation of the genetic variable should be provided in the contour map. The other is that spatial genetic structure should be reflected by the patterns or the gradients with genetic boundaries in the map. Nevertheless, most conventional interpolation methods, such as Cavalli-Sforza's method in genography, inverse distance-weighted methods, and the Kriging technique, focus only on the first primary purpose because of their arbitrary thresholds marked on the maps. In this paper we present an application of the contour area multifractal model (CAMM) to human population genetics. The method enables the analysis of the geographic distribution of a genetic marker and provides an insight into the spatial and geometric properties of obtained patterns. Furthermore, the CAMM may overcome some of the limitations of other interpolation techniques because no arbitrary thresholds are necessary in the computation of genetic boundaries. The CAMM is built by establishing power law relationships between the area A (> or =rho) in the contour map and the value p itself after plotting these values on a log-log graph. A series of straight-line segments can be fitted to the points on the log-log graph, each representing a power law relationship between the area A (> or =rho) and the cutoff genetic variable value for rho in a particular range. These straight-line segments can yield a group of cutoff values, which can be identified as the genetic boundaries that can classify the map of genetic variable into discrete genetic zones. These genetic zones usually correspond to spatial genetic structure on the landscape. To provide a better understanding of the interest in the CAMM approach, we analyze the spatial genetic structures of three loci (ABO, HLA-A, and TPOX) in China using the CAMM. Each synthetic principal component (SPC) contour map of the three loci is created by using both Han and minority groups data together. These contour maps all present an obvious geographic diversity, which gradually increases from north to south, and show that the genetic differences among populations in different districts of the same nationality are greater than those among different nationalities of the same district. It is surprising to find that both the value of p and the fractal dimension alpha have a clear north to south gradient for each locus, and the same clear boundary between southern and northern Asians in each contour map is still seen in the zone of the Yangtze River, although substantial population migrations have occurred because of war or famine in the last 2,000 or 3,000 years. A clear genetic boundary between Europeans and Asians in each contour map is still seen in northwestern China with a small value of alpha, although the genetic gradient caused by gene flow between Europeans and Asians has tended to show expansion from northwestern China. From the three contour maps another interesting result can be found: The values of alpha north of the Yangtze River are generally less than those south of the Yangtze River. This indicates that the genetic differences among the populations north of the Yangtze River are generally smaller than those in populations south of the Yangtze River.