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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 To investigate the influence of hyperfibrinogenemia in outcome of patients with acute brain infarction.Methods Consecutive acute cerebral infarction patients,admitted to our hospital from August 2010 to August 2014,were prospectively recruited.The baseline data,including age,gender,serum creatinine level,National Institute of Health Stroke Scale (NIHSS) scores,types of Oxfordshire Community Stroke Project (OCSP:total anterior circulation infarct,partial anterior circulation infarct,posterior circulation infarct and lacunar infarct),and plasma fibrinogen level within 24 h of admission were recorded.Patients were divided into two groups according to with or without hyperfibrinogenemia.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).Multi-variant Logistic regression analysis and Kaplan-Meier curve analysis were performed to analyze the influence of fibrinogen in bad prognosis and mortality ratio.Results A total of 495 patients were enrolled,including 123 patients with hyperfibrinogenemia.Good prognosis was noted in 200 patients and bad one was noted in 295 patients.As compared with patients without hyperfibrinogenemia,acute ischemic patients with hyperfibrinogenemia had significantly higher rate of bad prognosis (34.41％ vs.60.98％,P＜0.05);as compared with patients with good prognosis,patients with bad prognosis had significantly higher fibrinogen (3.00[0.95] g/L vs.3.35[1.4] g/L,P＜0.05).Spearman correlation analysis indicated that hyperfibrinogenemia was correlated to the mRS scores (r=0.219,P=0.026).Multivariate Logistic regression indicated that hyperfibrinogenemia within 24 hours since onset was an independent prognostic factor for long-term poor outcomes (OR=1.772,95％ CI:1.1003-3.130,P=0.049).Kaplan-Meier estimate of patients with hyperfibrinogenemia for cumulative 180 days survival function for all-cause mortality was lower than those without hyperfibrinogenemia (76.42％ [94/123] vs.91.40％ [340/372]).Conclusion In patients with acute cerebral infarction,hyperfibrinogenemia within 24 hours since onset is an independent prognostic factor for long term unfavorable outcome;the survival rate of patients with hyperfibrinogenemia is lower than that of patients without hyperfibrinogenemia.
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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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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.
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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.