One case of early adult-onset dentatorubral-pallidoluysian atrophy with an onset of epilepsy / 中华神经科杂志

The clinical features, electroneurophysiology, neuroimaging and gene characteristics of one case of early adult-onset dentatorubral-pallidoluysian atrophy (DRPLA) with an onset of epilepsy were reported. The female patient had the onset manifestation of epilepsy. Whereafter, she progressively developed marked cerebellar ataxia, mental retardation and choreic movement. Electroencephalography showed that there were multiple complex slow waves in the whole brain cortex. Magnetic resonance imaging showed the patient had marked atrophies in the cerebral cortex, brainstem and cerebellum. Atrophin-1 gene detection revealed that the numbers of CAG repeats were 15/65 (the patient) and 14/54 (her father) respectively. Her father had no clinical manifestations until now. The mother and brother were normal. DRPLA has diverse clinical presentation,heterogeneous phenotypic spectrum, early adult-onset DRPLA is rare, and the specific gene detection can be helpful for a definitive diagnosis.

Hereditary neuralgic amyotrophy caused by SEPT9 gene mutation in a family / 中华神经科杂志

Objective:To analyze the clinical characteristics of hereditary neuralgic amyotrophy caused by SEPT9 gene mutation in a family to promote understanding this disease.Methods:The clinical manifestations, examination, imaging and electrophysiology of a family with hereditary neuralgic amyotrophy diagnosed by gene testing in the 960th Hospital of People′s Liberation Army in August 2013 were retrospectively analyzed.Results:The age of the onset ranged from children to middle-aged. The parent-child couples demonstrated the existence of marked anticipation, with earlier age of onset in successive generations. Male and female were involved. The forearm had circular skin creases at a young age. The sudden upper limb pain and weakness were first symptoms, the distal upper limb muscle weakness was more obvious than the proximal, and the wrist was saggy. The course was described as relapsing-remitting, and there were sufficient laxity of the skin and generalized muscle wasting. The cerebrospinal fluid examination and magnetic resonance examination of brachial plexus nerve were normal. The electrophysiology was limited to the peripheral nerve damage of the double upper limbs.Conclusions:Relapsing-remitting focal brachial plexus pain and weakness are the main manifestations of hereditary neuralgic amyotrophy, and the laxity of the skin and generalized thin muscle appear on sequel stage of the clinical repeated attack. The electrophysiological lesion is limited to brachial plexus nerve.

Secondary Short-Lasting Unilateral Neuralgiform Headache with Conjunctival Injection and Tearing: A New Case and a Literature Review

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) is a primary headache syndrome with an unclear pathogenesis. However, there is increasing evidence in the literature for secondary SUNCT being attributable to certain known lesions. We explored the possible neurobiological mechanism underlying SUNCT based on all reported cases of secondary SUNCT for which detailed information is available. Here we report a case of neuromyelitis optica spectrum disorders that had typical symptoms of SUNCT that might have been attributable to involvement of the spinal nucleus of the trigeminal nerve. We also review cases of secondary SUNCT reported in the English-language literature and analyze them for demographic characteristics, clinical features, response to treatment, and imaging findings. The literature review shows that secondary SUNCT can derive from a neoplasm, vascular disease, trauma, infection, inflammation, or congenital malformation. The pons with involvement of the trigeminal root entry zone was the most commonly affected region for inducing secondary SUNCT. In conclusion, the neurobiology of secondary SUNCT includes structures such as the nucleus and the trigeminal nerve with its branches, suggesting that some cases of primary SUNCT have underlying mechanisms that are related to existing focal damage that cannot be visualized.

Three scales in predicting prognosis of patients with heat stroke / 医学研究生学报

Objective The scale lists applied in the diagnosis and treatment of heat stroke generally draw on other specialty scales, and there is no specific scoring system on heat stroke verified by large-scale clinical trials.The paper compared common acute physiology and chronic health evaluationⅡ( APACHEⅡ) , dissolved inorganic carbon score( DIC score) , multiple organ dysfunction score( MOD score) for the prognostic evaluation of heat stroke patients, the sum of three scores and the sum of the percentages of three scores to the score sum on prognostic evaluation of heat stroke patients in order to find a scoring method with higher clinical value. Methods APACHEⅡ, MOD score, DIC score, the sum of three scores and the sum of three scores were applied on 43 patients with heat stroke admitted in our neurological intensive care unit ( NICU) or in intensive care unit ( ICU) .The analysis of the area under the receiver operating characteristic ( ROC) curve( AUC) analysis was made among five scores. Results The weighted sum of three scores has the largest AUC ( 0.896 ) in predicting the death of HS patients according to AUC.The optimal MOD score was 5.5 in predicting the death of HS with a sensitivity of 72.7%and a specifici-ty of 99.69%.The optimal DIC score was 1.5 in predicting the death of HS with a sensitivity of 100%and a specificity of 56.2%.The op-timal score of the sum of the percentages of three scores to the score sum was 0.727 in predicting the death of HS with a sensitivity of 72.7%and a specificity of 100%. Conclusion All the five scores can predict the prognosis of patients with heat stroke.However, due to the deficiency in the prognosis value, a more specific scoring system needs to be developed.

Risk factors of post-stroke disability in patients with acute cerebral infarction / 中华全科医师杂志

Objective To analyze the risk factors of post-stroke disability in patients with acute cerebral infarction.Methods Total 1 137 consecutive patients with acute cerebral infarction admitted in Department of Neurology, General Hospital of Jinan Military Region, were prospectively recruited from August 2010 to August 2014.According to Oxfordshire Community Stroke Project(OCSP), 275 patients were classified as total anterior circulation infarction, 377 as partial anterior circulation infarction,305 as posterior circulation infarction and 180 as lacunar infarction.The baseline data including age, gender, National Institute of Health Stroke Scale ( NIHSS) score were recorded.Recovery was assessed by modified Rankin Scale ( mRS) 6 months after stroke by telephone interview ( mRS≤2:good prognosis, 2

Correlation between chronic kidney disease and long-term outcome in patients with acute cerebral infarction / 中华神经科杂志

Objective To investigate the correlation between chronic kidney disease (CKD) and long-term outcomes in a large cohort of unselected patients with acute cerebral infarction.Methods Consecutive acute cerebral infarction patients hospitalized in Department of Neurology,General Hospital of Jinan Military Region were prospectively recruited from August 2010 to November 2013.The baseline data including age,sex,the National Institute of Health Stroke Scale (NIHSS) scores,type of Oxfordshire Community Stroke Project (OCSP:total anterior circulation infarct,partial anterior circulation infart,posterior circulation infarct and lacunar infarct),serum creatinine were recorded.Estimated glomerular filtration rate (eGFR) was calculated according to CKD epidemiology collaboration (CKD-EPI) equation.CKD was defined as eGFR ＜ 60 ml · min-1 · 1.73 m-2 body surface area.Patients were divided into eGFR≥60 ml · min-1 · 1.73 m-2 group and eGFR ＜ 60 ml · min-1 · 1.73 m-2 group.Recovery was assessed by modified Rankin Scale (mRS) 180 days after stroke by telephone interview (mRS≤2 reflected good prognosis,and mRS ＞ 2 reflected unfavorable prognosis).Multinominal Logistic regression analysis,Kaplan-Meier curve and log rank test were used.Results Eight hundred and fifty-two patients were enrolled,among them 93 patients were with CKD.Compared to patients without CKD,acute ischemic patients with CKD were older ((70.56 ± 11.86) years vs (63.11 ± 12.15) years,t =5.60,P =0.000),more likely with NIHSS ≥7 (59.14％ (55/93) vs 32.54％ (247/759),x2 =25.61,P =0.000),more likely with hypertension (89.25％ (83/93) vs 77.34％ (587/759),x2 =6.99,P =0.007),more likely with atrial fibrillation (29.03 ％ (27/93) vs 9.5 ％ (72/759),x2 =30.82,P =0.000),more likely with congestive heart failure (13.98％ (13/93) vs 3.03％ (23/759),x2 =24.54,P =0.000),more likely with tumour (6.50％ (6/93) vs 2.24％ (17/759),x2 =5.59,P =0.031).CKD was a independent prognostic factor for long-term poor outcome (OR =2.034,95％ CI 1.194-3.468) and long term mortality (OR =2.657,95％ CI 1.450-4.870).Kaplan-Meier estimate of patients without CKD for cumulative 180 days survival function for all-cause mortality was higher than those with CKD (79.57％ (74/93) vs 93.54％ (710/759),Log rank test:x2 =23.602,P =0.000).Conclusions Acute ischemic stroke patients with CKD are with more comorbidities.CKD is a independent prognostic factor for long-term poor outcomes and long term mortality in patients with acute cerebral infarction.

Correlation between anemia and outcome in patients with acute cerebral infarction / 中华神经科杂志

Objective To investigate the correlation between anemia and outcome in a large cohort of unselected patients with acute cerebral infarction.Methods Consecutive acute cerebral infarction patients who were hospitalized were prospectively recruited from August 2010 to November 2013.Eight hundred and fifty-eight patients were enrolled,and the baseline data including age,sex,National Institute of Health Stroke Scale(NIHSS) scores,type of Oxfordshire Community Stroke Project(OCSP:total anterior circulation infarct,partial anterior circulation infarct,posterior circulation infarct and lacunar infarct),serum creatinine,initial hemoglobin level,initial hematocrit level,etc,were recorded.Hemoglobin level and hematocrit level during hospitalization were also recorded.Domestic criteria were used to define if the patient had anemia on admission.Recovery was assessed by modified Rankin Scale (mRS) 180 days after stroke by telephone interview (mRS scores ≤ 2 reflected good prognosis,and mRS scores ＞ 2 reflected unfavorable prognosis).The influence on outcome by anemia on admission,initial hemoglobin level,nadir hemoglobin level,nadir hematocrit level was analyzed by multinomial Logistic regression analysis.Results Odds ratio of initial hemoglobin level for poor outcome was 1.013 (95％ CI 1.001-1.024,P =0.027) with each decrease in hemoglobin of 1 g/dl.Initial anemia(OR =2.417,95％ CI 1.202-4.859,P =0.013) was a independent prognostic factor for mortality;odds ratio of nadir hemoglobin level for mortality was 1.016(95％ CI 1.002-1.030,P =0.026) with each decrease in hemoglobin of 1 g/dl;odds ratio of nadir hematocrit level for mortality was 1.047(95％ CI 1.003-1.093,P =0.037) with decrease in hematocrit of one percentage point.Conclusions Initial hemoglobin level was a independent prognostic factor for poor outcome in patients with acute cerebral infarction.Anemia on admission,nadir hemoglobin level,nadir hematocrit level were independent prognostic factors for mortality in patients with acute cerebral infarction.

Clinical analysis of five cases positive for anti-N-methyl-D-aspartic acid (NMDA) receptor antibodies / 中国神经精神疾病杂志

Objective To summarize and analysis the clinical features, diagnosis and treatment of the cases which were positive for anti-N-methyl-D-aspartic acid (NMDA) receptor antibodies by indirect immunofluorescence assay (IFA). Methods We analyzed the disease process, clinical characteristics, auxiliary examination , diagnosis, treat-ment, and prognosis of five cases positive for anti NMDA receptor antibodies in their serum and cerebrospinal fluid (CSF). Results Four of the five cases positive for anti-N-methyl-D-aspartic acid (NMDA) receptor antibodies were di-agnosed with anti-NMDA receptor encephalitis and one was diagnosed with Herpes Simplex Virus Encephalitis(HSE). The five cases had a similar disease presentation including prodromal flu-like symptoms in three cases and psychiatric symptoms at onset in three cases. Four cases developed epilepsy and respiratory failure during the disease course and received treatment in the NICU. Four cases had movement disorders during the late stage of isease..Electroencephalo-graphs and brain MRI showed abnormalities in most cases. The virus infection and dysimmunity test were positive in four cases. Patients with the anti-NMDA receptor encephalitis could have a good immediate prognosis after treatment with hormone and immune globulin. However, two cases developed cancer and one case died during one year fol-low-up. Conclusion Patients with HSE may also test positive for anti-NMDA receptor antibodies. Thus, diagnosis of anti-NMDA receptor encephalitis requires a thorough evaluation including patient’s history and disease course to avoid misdiagnosis.

Clinical features and neuroimaging analysis of hemichorea and non-ketotic hyperglycemia / 中华全科医师杂志

Three cases of nonketotic hyperglycemia plus hemichorea were treated from 2011 to 2012.And the clinical data,radiological diagnosis and treatment were retrospectively analyzed.Three patients were all elderly diabetics with an onset level of glucose ＞ 20 mmol/L and negative urine ketone.Dance symptoms involved unilateral extremity and/or face.Cranial computed tomography showed highdensity lesions in contralateral putamen and caudate nucleus head.And magnetic resonance imaging detected T1 WI high signal,T2WI slightly low or equal signals.The diagnosis was based on clinical features and imaging manifestations.The primary treatment was lowering blood sugar plus uses of haloperidol,chlorpromazine and other drugs when necessary.Three cases were all cured.

The correlation between comorbidity and long-term outcome in patients with acute cerebral infarction / 中华神经科杂志

Objective To investigate the correlation between prestroke comorbidity and long-term outcomes in patients with acute cerebral infarction.Methods Consecutive acute ischemic stroke patients who were hospitalized were prospectively recruited from August 2010 to November 2012.Six hundred and forty-four patients were enrolled,the baseline data including Charlson Comorbidity Index (CCI),National Institute of Health Stroke Scale (NIHSS) score,type of Oxfordshire Community Stroke Project (OCSP:total anterior circulation infarct,partial anterior circulation infarct,posterior circulation infarct and lacunar infarct) were recorded.And recovery was assessed by modified Rankin Scale (mRS) 90 days after stroke by telephone interview (mRS score ≤ 2 reflected good prognosis,and mRS score ＞ 2 reflected unfavorable prognosis).Because CCI included specific comorbidity,we considered CCI,CCI without specific comorbidity and specific comorbidity as variable respectively.After screening the risk factors affecting prognosis using univariate analysis,the relationship between comorbidity and prognosis was estimated using multinomial logistic regression model.Results CCI was an independent predictor of good prognosis and unfavorable prognosis (OR =3.446,95％ CI 1.662-7.417; P =0.001).Congestive heart failure and diabetes were each independent predictor of good prognosis and unfavorable prognosis also (diabetes:OR =2.584,95％ CI 1.709-3.906,P =0.000; congestive heart failure:OR =6.229,95％ CI 1.705-22.755,P =0.006).Conclusions After acute ischemic stroke,the patients with the higher CCI score,diabetes and congestive heart failure are more likely to achieve unfavorable outcome.CCI,diabetes and congestive heart failure can each be used as a sensitive index to evaluate the 90 d prognosis of patients.Trial registration Clinical Research Center of China (CHiCTR-OCH-14004228)

Clinicopathological analysis on eight patients with rhabdomyolysis caused by exertional heat stroke / 中华神经科杂志

Objective To investigate the clinicopathological features and the pathogenesis of rhabdomyolysis caused by exertional heat stroke.Methods Eight patients including 6 military soldiers and 2 physical exercisers trained under high temperature environment were enrolled into this study.Their clinical manifestations were compatible with the diagnostic standard of exertional heat stroke.Consecutive blood biochemistry tests were performed in all patients,and electromyography and muscle biopsy in 3 cases.Results Eight patients were all male,with average age of 27.4 years old.The main clinical characteristics included myalgia in 4 patients,muscle weakness in 2 patients,fever in 5 patients,and tea-colored urine in 3 patients.One patient had acute renal failure,and 2 patients developed multiple organ failure syndromes and disseminated intravascular coagulation.One muscle biopsy done in the third day after the onset showed obvious muscle necrosis without inflammatory infiltrates,while the other 2 muscle biopsy done 2 weeks after the onset showed muscle necrosis companied by inflammatory phagocytic response.Six patients full recovered,1 patient partially recovered and one patient died.Conclusions Rhabdomyolysis caused by exertional heat stroke predominantly occurred in males.The main clinical features include muscle pain,weakness,significantly elevated serum creatine kinase and myoglobin level and myoglobinuria.Muscle pathology indicated muscle necrosis in the early stage and accompanied inflammatory infiltrates in the late stage.Most patients will get recovered with prompt diagnosis and treatment while the severe cases can be life-threatening.

Cerebral autosomal recessive arteriopathy with subcortical infarets and leukoencephalopathy / 国际脑血管病杂志

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive hereditary cerebral artery disease in the adolescence,and its main clinical manifestations are dementia,stroke,low back pain and alopecia.At present,most cases are from Japan.3-6 exon point mutations in the HTRA1 gene are associated with the onset of CARASIL.Brain histopathological examination showed a small arterial intimal thickening medial smooth muscle cell loss and hyalinization.Brain MRI showed a diffuse white matter abnormal signal and multiple subcortical infarcts.The diagnosis mainly depends on the characteristic clinical symptoms,imaging characteristics and genetic testing.It should be differentiated from cerebral autosomal dominant arteriopathy with sulcortical infarcts and leucoencephalopathy.

Clinical and pathological characteristics of primary Sj(o)gren's syndrome-associated neurological lesions / 中华全科医师杂志

Objective To explore clinical and pathological characteristics of neurological lesions in primary Sj(o)gren's syndrome (pSS).Methods Ten patients diagnosed as pSS with nervous system involvement were analyzed retrospectively with autoimmune antibody test,cerebrespinal fluid examination and Schivmer's test,six pSS patients with peripheral nervous system lesions (PNS-pSS) were examined with electromyography and nerve conduction velocity and four pSS patients with central nervous system lesions (CNS-pSS) were examined with cranial MRI to analyze their clinical and pathological characteristics.Salivary gland biopsy was performed for all the ten patients,sural nerve biopsy for those with PNS-pSS and brain biopsy or spinal autopsy for those with CNS-pSS.Results Clinically,six patients with PNS-pSS presented symmetrical sensory-motor peripheral neuropathy or pure sensory peripheral neuropathy and four patients with CNS-pSS presented multiple sclerosis,subacute transverse myelitis,encephalitis,pituitary stroke and acute meningitis with varied lesions in the myelin sheath and axon by electromyography and motor nerve conduction velocity.Cranial MRI showed lesions in the white matter of the brain,spinal cord and abnormal signals in the pituitary.Pathologically,sural nerve biopsy showed typical vasculitis and nonvasculitis characterized as degeneration of the axon and myelin sheath,salivary acinar gland biopsy showed its atrophy and infiltration with lymphocytes,and brain biopsy showed demyelination of the brain and spinal white matter,as well as infiltration of lymphocytes surrounding the veins,typical vasculitis and bleeding and necrosis of the pituitary.Conclusions Both central and peripheral nervous systems can be involved in pSS,with complicated clinical manifestations.Electrophysiology,cerebrospinal fluid tests and histopathological examinations by biopsy are essential in diagnosis for neurological lesions in patients with pSS.Inflammatory reaction of the blood vessels and tissues mediated by cell immunity may be involved in mechanism of its neurological lesions.

Rho/Rho-Kinase Signaling Pathway and Ischemic Cerebrovascular Disease / 国际脑血管病杂志

Rho/Rho-kinase signaling pathway is a ubiquitous one in vivo.It plays a role of "molecular switch"by regulating the polymeric state of intracellular actin cytoskeleton,and participates in the regulation of various cellular functions.Rho/Rho-kinase signaling pathway plays an important role in the risk factors.pathogenesis and pathophysiological processes of ischemic cerebrovascular disease.The inhibition of Rho/Rho-kinase signaling pathway may achieve a significant neuroprotective effect.

Leukoaraiosis / 国际脑血管病杂志

Leukoaraiosis is caused by a variety of diseases. It presents diffuse low density areas in periventricular and subcortical areas (centrum semiovale) on CT or presents diffuse high signals on T2-weighted imaging. Demyelination of white matter fibers caused by arteriopathy is one of the major causes of leukoaraiosis. This article reviews the clinical manifestation, imaging and pathological features of leukoaraiosis, as well as its pathogenesis.

Intercellular Adhesion Molecule-1 and Cerebral Ischemic Injury / 国际脑血管病杂志

Intercellular adhesion molecule-1 (ICAM-1) is one of the major molecules in mediating the adhesion between leucocytes and endothelial cells. The article mainly elaborates the expression of ICAM-1 and its effect during cerebral ischemia; it also discusses the interaction between ICAM-1 and other inflammatory cytokines. Anti-ICAM-1 treatment is expected to become one of effective methods in the management of cerebral ischemic injury.

Effect of Fujian Tablet on expression of axon guidance factor in rat after cerebral infarction / 中华中医药杂志

Objective: To explore the mechanism of Fujian Tablet in promoting neural regeneration by observing the effect of Fujian Tablet on the expression of slit in MCAO rats at different stages. Methods: 240 SD rats were randomly divided into normal control, sham operation, model and medicine groups, which were randomly divided into five subsets with 12 rats according to the day 3 and week 1, 2, 4, 6 stages. The rat models with middle cerebral artery occlusion were successfully established by the improved Longa EZ. The medicine group was gived with Fujian Tablet, other groups were given with commensurability distilled water. The expession of slit in the region around the infarction was observed by immunohistochemical method. Results: In the medicine group, slit -positive cells were obviously different with normal control group (P

Relationship between the apoptosis of cerebellar granule cell and changes of caspases-3 and Bcl-2 in rats with methylmercury intoxication / 临床神经病学杂志

Objective To explore the relationship between the apoptosis of cerebellar granule cell and the changes of caspases-3 and Bcl-2 in rats with methylmercury intoxication.Methods We chronologically observed the pathological changes of cerebellum in rats given methylmercury[4 mg/(kg?d)] at day 11, 15, 18 and 19. The apoptosis of cerebellar granule cell was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick-end-labeling (TUNEL) method, and the relationship between the apoptosis and the expression of caspases-3 and Bcl-2 was evaluated.Results At day 18, some sparse TUNEL positive granular cells could be observed, mainly in deep lamina adjacent to the white matter. At day 19, the apoptotic cells markedly increased, while the number of granular cells decreased with a well preservation of Purkinje cells demonstrated by calvindine immunostaining. MRF-1 and glial fibrillary acidic protein(GFAP) dyeing demonstrated severe microglia reaction and astrocytosis. From day 11, caspasese-3 mRNA expression up-regulated, increased gradually and reached peak at day 18, then decreased markedly at day 19. In contrast, Bcl-2 mRNA expression down-regulated from day 11, and decreased obviously at day 19. Zic-1 as a marker of granule cell decreased gradually after methylmercury administration and indicated degeneration of granule cells.Conclusion Cerebellar granular cell degeneration induced by methylmercury is related to apoptosis mediated by caspases-3 and Bcl-2 down regulated.

Effect of Fujian Tablets on Expression of Microtubule-associated Protein 2 in Cerebral Infarction Rats at Different Time Points / 广州中医药大学学报

Objective To observe the effect of Fujian Tablets(FT),a prescription with the actions of nourishing liver and kidney,on the expression of microtubule-associated protein 2(MAP-2) in cerebral infarction rats at different time points,and to explore its mechanism on promoting nerve cell differentiation.Methods A total of 240 male Sprague Dawley rats were divided into normal control group,sham-operation group,model group and FT group.Focal cerebral ischemia models were established by occlusion of the middle cerebral artery according to the reformed Longa method in rats,and were subdivided into 3-,7-,14-,28-,and 42-day cerebral infarction subgroups.FT group was given FT in the dose of 9 g?kg-1?d-1,and the other groups were given the same dose of distilled water.Results In the model group,MAP-2 expression in the hippocampus increased and reached a peak on day 3,which were notably different from that in the normal control group(P0.05).In FT group,MAP-2 expression increased on day 3,reached a peak on day 7,remained high level till day 14,and then decreased,the difference being significant compared with the model group(P

Relationship between the plasma inflammatory cytokines and carotid atherosclerosis in patients with ischemic cerebrovascular disease / 临床神经病学杂志

Objective To investigate the relationship between the plasma inflammatory cytokines and carotid atherosclerosis in patients with ischemic cerebrovascular disease(ICVD).Methods The levels of plasma interleukin (IL)-6,matrix metalloproteinase (MMP)-8 and soluble CD40 ligand (sCD40L) in 64 patients with ICVD were detected by enzyme-linked immunosorbent assay (ELISA),the severity of bilateral carotid atherosclerosis was measured by colour ultrasound.The results were compared with those of non ICVD controls. The association of the levels of plasma IL-6,MMP-8,sCD40L and the severity of carotid atherosclerosis were analysized. Results The levels of plasma IL-6,MMP-8,and sCD40L in patients with ICVD were significantly higher than those in control group(all P