The phenotypic and genetic spectrum of colony-stimulating factor 1 receptor gene-related leukoencephalopathy in China / 中华神经科杂志

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.

Research progress on the relationship of brown adipose tissue with polycystic ovary syndrome / 浙江大学学报·医学版

Brown adipose tissue (BAT) holds great promise for the prevention and treatment of metabolism diseases through thermoregulation. Polycystic ovary syndrome (PCOS) is a complex condition with anovulation, hyperandrogenism, and polycystic ovaries, and also manifests glucolipid metabolic disorders. Recent researches have shown that transplantation of BAT into a PCOS rat could significantly alleviate the phenotypes. This article reviews the role of BAT in pathogenesis of PCOS, which may provide information for prevention and treatment of PCOS.

Transcranial Doppler ultrasonographic evaluation of vertebral artery hypoplasia and focal artery stenosis / 国际脑血管病杂志

Objective To investigate the diagnostic values of transcranial Doppler ultrasonography (TCD) for vertebral artery hypoplasia (VAH) and focal vertebral artery stenosis (fVAS) with CT angiography (CTA) finding as a standard.Methods Consecutive patient who underwent TCD and CTA were included.According to the findings of CTA,they were divided into 3 groups:a normal group,a VAH group,and a fVAS group.The TCD parameters included the mean flow velocity (MFV),peak systolic velocity (PSV),pulsatility index (PI),resistance index (RI) and asymmetry index (AI),and they were compared among the groups,respectively.The receiver operator characteristic (ROC) curves were used to evaluate the sensitivity and specificity of TCD parameters for diagnosis of VAH and fVAS.Results A total of 405 patients were enrolled,including 278 (68.6％) in the normal group,75 (18.5％) in the VAH group,and 52 (12.8％) in the fVAS group.There were significant differences in MFV,PSV,PI,and RI on the affected sides among different groups (the affected side in the normal group was defined as the right side).The blood flow velocity in the VAH group was the slowest,and that in the fVAS group was the fastest.Other parameters had the same trend.There were significant differences in MFV and PSV on the unaffected side among different groups.The blood flow velocity in the VAH group was significantly faster,the fVAS group was slightly faster,and the fVAS group was less than the VAH group.There were significant differences in AI among different groups,and it could be used as an indicator for diagnosis of VAH (the area under the curve 0.78,95％ confidence interval 0.72-0.84;P＜0.001).With the AI ＞33.7％ as a cut-off value,the sensitivity and specificity of VAH diagnosis were 74.7％ and 68.7％.Conclusions Attention should be paid to identifying VAH and fVAS when using TCD for evaluation of vertebral artery.AI ＞33.7％ can be used as a reference index for diagnosis of VAH.

Progress of High-resolution Magnetic Resonance Imaging in Evaluating Cerebral Atherosclerotic Plaques (re-view) / 中国康复理论与实践

High-resolution magnetic resonance imaging (HRMRI) is a safe, non-invasive, inexpensive, accurate and reproducible clini-cal imaging modality, and the results can acutely reflect the extent of atherosclerotic disease and have high predictive values for future clini-cal events. It uses black blood imaging techniques and can obtain sufficient sensitivity for submillimetre imaging. HRMRI has been used widely to visualize the vessel wall and differentiate the components of atherosclerotic plaques. It is of important clinical meaning to evaluate plaque vulnerability with HRMRI, which is related to the remodeling pattern, plaque burden, intraplaque hemorrhage and contrast enhance-ment, and plaque distribution, etc.

Vertebral artery hypoplasia and posterior circulation ischemic stroke / 国际脑血管病杂志

Vertebral artery hypoplasia is a frequent variation type of vertebral arteries.At present,there is no unified theory about the relationship between vertebral artery hypoplasia and posterior circulation ischemic stroke.The available evidence suggests that vertebral artery hypoplasia may be a precipitating factor for posterior circulation ischemic stroke; particularly other vascular risk factors coexist.This article elaborates the epidemiology of vertebral artery hypoplasia,the clinical manifestation and imaging features of vertebral artery hypoplasia in patients with posterior circulation ischemic stroke,and the possible mechanism of vertebral artery hypoplasia caused posterior circulation ischemic stroke.

The effection of Shenfu Injection (Ginseng-radix aconitum Injection) to the coagulation in the patient of multiple trauma complicated with shock / 中华急诊医学杂志

Objective To investigate the effection of Shenfu Injection (Ginseng-radix aconitum Injection)to the blood coagulation system and its prognosis in the patient of multiple trauma complicated with shock.Methods We prospectively studied 90 patients of multiple trauma complicated with shock,who came from the emergency center of the Second Affiliated Hospital of Medicine' s college of Zhe-Jiang University and emergency department of Lishui People' s Hospital from February 2007 to December 2011,and excluded those suffered with the dysfunction of coagulation system and uncontrolled ongoing bleeding before trauma.And then these eligible patients were randomly divided into two groups:treatment group ( 45 cases ) and control group (45 cases),the control group were received the routine treatment,the treatment group were received Shenfu Injection in early stage based on the routine treatment.The two groups were measured the platelet count (PLT),prothrombin time (PT),activated partial thromboplastin time (APTT),thrombin time (TT),fibrinogen (FIB) before treatment and 3,7 days after treatment.Results The differences of the PLT,PT,APTT,TT,FIB between the treatment group and control group at 3,7 d after the treatment was statistically significant (P ＜ 0.05 ). Conclusions Shenfu Injection has positive regulation to the coagulation system in the patient of multiple trauma complicated with shock.

Relationship of serum prealbumin level with the severity of acute ischemic stroke in 2522 patients / 中华临床营养杂志

Objective To assess the relationship of serum prealbumin level with the severity of acute ischemic stroke (AIS).Methods The clinical data of 2522 AIS patients who were admitted in Peking Union Medical College Hospital from 2000 to 2008 were retrospectively analyzed.The serum prealbumin and hypersensitive C-reactive protein (hs-CRP) levels were evaluated by immunoturbidimetric assay within 24 hours after admission.The AIS severity was evaluated at admission using modified Rankin Scale (mRS).Patients were divided into mild AIS group (mRS score ≤ 3 ) and severe AIS group (mRS score ＞ 3 ).The levels of serum prealbumin and hs-CRP were compared between these two groups,and the relationship between praalbumin and hs-CRP was also analyzed.Results There were 1697 patients in the mild group (average mRS score:1.67) and 825 patients in the severe group ( average mRS score:4.53 ).The severe group had significantly lower prealbumin level [ ( 191.20,82.00)versus (219.18,72.00) mg/L,P =0.000] and higher hs-CRP level [ (6.01,8.22) versus (4.15,6.93) mg/L,P =0.000 ] than the mild group,respectively.Partial regression analysis showed that the stroke severity was negatively correlated with serum prealbumin level (r =-0.115,P =0.000) and positively correlated with hs-CRP level (r =0.098,P =0.000).Serum prealbumin level was inversely correlated with hs-CRP level ( r =- 0.396,P =0.000).Conclusion The prealbumin level is relevant with the severity of AIS and inflammation.

Analysis of a case of Wallerian degeneration after stroke / 中华神经科杂志

Objective To study the process and mechanism underlying Wallerian degeneration of the central nervous system after stroke.Methods A case suspected of stroke with bilateral symmetrical lesions in middle cerebellar peduncles (MCPs) was described.The etiology of bilateral MCP abnormal signals on MR was analyzed according to the clinical process and neuroanatomy.Results Unilateral paramedian pontine infarction,covering the crossing area of pontocerebellar fibers, would cause bilateral secondary degeneration of MCPs,with hyperintense signals on T2-,Flair and diffusion-weighted images.Conclusions Wallerian degeneration of projecting system is a common sequel after stroke and should not be misdiagnosed as other diseases.

Risk factors of recurrent ischemic stroke: a retrospective analysis / 中华神经科杂志

Objective To examine the recurrent ischemic stroke(RIS)in hospitalized patients predicted by Essen Stroke Risk Score(ESRS)and investigate the effect of intensive antiplatelet therapy in patients with high risk of RIS. Methods Retrospective analysis of patients with acute noncardioembolic ischemic stroke consecutively admitted to Peking Union Medical College Hospital(PUMCH)during 2001-2008. All 1008 patients were included in this study, 377 hospitalized in 2001-2002, 315 in 2005 and 316 in 2008. High risk of RIS was defined as ESRS ≥3. The average ESRS score in three groups and percentage of patients with high risk of RIS in each group were calculated. Risk of RIS was evaluated by comparing the average ESRS score in these three groups. Patients with high risk and taking clopidogrel treatment were also evaluated. Results Average ESRS score was 2. 67 ± 1.47,3.55 ± 1.40 and 3.93 ± 1.48(F= 150. 85,P=0.000)in groups of patients hospitalized in 2001-2002, 2005 and 2008 respectively. A significant difference was shown in percentage of high risk patients with ESRS ≥3 in three groups: as 51.64% in 2001-2002,77. 19% in 2005 and 85. 45% in 2008(X2=98.30,P=0. 000),showing a trend of increasing risk of RIS. Except for patients age, rates of having the risk factors in patients increased significantly, including hypertension, diabetes, myocardial infarction, myocardial diseases, smoking,vascular disease and stroke history. Clopidogrel usage has been increasing to 25.63% in 2008, but was far behind high ratio of high risk RIS patients(85.45%). Conclusions This retrospective study showd an increasing trend in RIS risk during 2001-2008. Identifying high risk patients and applying intensified antiplatelet therapy might play an important role in reducing the risk of RIS.