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The article reported the clinical, electrophysiological, renal pathology and gene mutation characteristics of a patient with action myoclonus-renal failure syndrome (AMRF). The patient was a young male who developed epilepsy at the age of 16 and gradually developed tremor, ataxia, and myoclonic seizures. Brain magnetic resonance imaging was normal. The electrophysiological manifestations of the nerve were symmetrical multiple sensory and motor nerve conduction velocity deceleration, especially the easily embedded site of the nerve. Renal pathology showed focal segmental glomerulosclerosis. A new complex heterozygous mutation of SCARB2 gene c.534_537delinsCT (chr4:7710074) and c.358G>T (chr4:7710217) was detected in the patient and verified by his family. The 2 heterozygous mutations were respectively from the patient′s parents. AMRF is a rare type of epilepsy in adolescents. The early manifestations were myoclonus or abnormal renal function, with great clinical heterogeneity and easy to be misdiagnosed and missed diagnosis. The final diagnosis depends on genetic testing.
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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.
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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.
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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.
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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.
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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.
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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.
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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
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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