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Objective To explore the clinical and genetic features of McLeod syndrome caused by XK gene mutation.Methods The clinical data of a patient who came from the Affiliated Brain Hospital of Nanjing Medical University in May 2017 and diagnosed as McLeod syndrome by gene detection were analyzed.Gene analysis was also carried out in his family to confirm the result.Results Acanthocytes in peripheral blood,systemic chorea symptom,and increased serum levels of creatine kinase were observed in this patient and his brother.The proband and his brother showed half mutations.One of the proband's sister was homozygous normal.The proband's mother,one of the proband's sister and the proband's daughter showed heterozygous mutations.The family analysis accorded with X-linked recessive inheritance trait.Genetic testing for mutations in the XK gene revealed a previously unreported hemizygous single base-pair frame shift deletion at exon 3 (c.1004G＞A).Conclusions A rare phenotype of a patient with McLeod syndrome is first described in mainland of China which was discovered coincidentally during routine blood group testing and consecutively genetically con fi rmed.One novel mutation in XK gene was found in the patient.For old male patient with multiple system disorders including dyskinetic movement disorders,cardiopathy,acanthocytes and elevated serum creatine kinase,a genetic test for XK gene mutation is highly suggested to confirm the McLeod syndrome.
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Vascular dementia is the primary cause of senile dementia in our country,which is the only preventable type of dementia now.qqais article reviews the advances in research on pathophysiology and imaging of vascular dementia.
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Objective To study the relationship between generalized tonic clonic epilepsy of different frequence seizure and erythrocyte ATPase activity.Methods We measured Na +/K + ATPase,Mg 2+ ATPase,Ca 2+ ATPase activity of 68 patients with generalized tonic clonic seizure who were divided into 3 groups by different frequence:Status epilepsy group (SE) for 26 cases,Frequency epilepsy (FE) group for 22 cases,epilepsy (EP) group for 20 cases and the normal controls for 35 cases.Results Erythrocyte Na +/K + ATPase in SE, FE group decreased,as compared with EP group,the normal control group, there was remar kable difference( P
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Objective To investigate the clinical features of limbic epilepsies and limbic status epilepticus.Methods The clinical data of two patients with limbic epilepsies and one patient with limbic status epilepticus were analysed retrospectively.Results 2 patients with limbic epilepsia were all young-aged onset of the disease.They manifested bouts of unconsciousness,nervous and fear,various automatism and autonomic nerves symptom.EEG showed spike discharge in unilateral or bilateral temporal area.MRI showed left hippocampns sclerosis in one case.Another case presented calcification focus in right internal temporal.One patient with limbic status epilepticus was middle-aged male,he manifested repeatedly onset of unconscious insanity,behavior disorders and psychiatric symptoms.There was over 30 min for once onset.EEG showed ? wave or ? wave in bilateral frontal and temporal area.MRI showed arachnoid cyst in left temporal lobe anterior.Three cases were controlled by Carbamazepine or Oxcarbazepine.Conclusion The clinical feature of limbic epilepsies and limbic status epilepticus have bouts of automatism,automic nerve symptom and psychiatric symptom attact,which have relation to impairment of hippocampus and almond body in interal temporal.
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Objective To investigate the clinical characteristics of Landau-Kleffner syndrome.Methods The clinical data of 3 patients with Landau-Kleffner syndrome was analyzed retrospectively.Results The clinical features of 3 cases presented acquired aphasia,epileptic attack and psychical behaviour abnormality.The EEG showed foci spike wave discharge,while the CT and MRI examination were normal.The epileptic attacks were controlled after treatment,but the recovery of aphasia and psychical behaviour abnormality was poor.Conclusions Acquired aphasia and epileptic attack are the clinical characteristics of Landau-Kleffner syndrome.The EEG shows spike wave dischargeis.Partial recovery can be obtained post-treatment.
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Objective To mainly discuss the relationship between histologic type and clinic manifestations of eosinophilic fasciitis. Methods Muscle biopsies in 6 cases of eosinophilic fasciitis were evaluated by the clinical, histopathology and enzyme histochemistry. Results All 6 cases were adults aged from 24-41 years (mean 35 years). Clinically, typical eosinophilic fasciitis charactristics were found in all cases. Histologically, three features appeared with diagnostic values. One was eosinophilic fasciitis with myopathy, one, eosinophilic fasciitis and another was focal fasciitis.Conclusions There may appear different histopathologic changes in eosinophilic fasciitis according to its clinic manifestations.
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Objective To explore the expression and significance of adhesion molecules ?2 integrin CD11c, CD18 in the polymorphonuclear neutrophils (PMN) and mononuclear leukocytes (MNL) of peripheral blood in patients with acute ischemic stroke (AIS).Methods Using indirect immunofluorescence and adopting a flow cytometry, the expressions of CD11c, CD18 in PMN and MNL in peripheral blood were measured within 72 h and 7 d after onset in 28 patients and 28 healthy controls.Results In AIS group, the expressions of CD11c, CD18 in PMN and MNL within 72 h ( 20.82?5.88, 218.25?89.00, 34.78?14.56 and 286.75?95.50, respectively) and at 7 d ( 18.60?5.52, 185.52?68.44, 31.97?14.47and 247.00?88.06, respectively) were significantly higher than those of normal control group ( 15.63?3.01, 150.76?41.20, 20.20?8.50 and 186.38?52.97, respectively)(all P
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0 05), and the adverse reaction for sulthiame was mild and no necessary to cure.Conclusion It is effective and safe in the treatment for GTCS with sulthiame.
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Objective To detect the levels of MBP and IL 16 in cerebrospinal fluid(CSF) and serum, investigate the correlation between them and the role in multiple sclerosis attacking process.Methods The levels of MBP and IL 16 of cerebral fluid and serum of 31 patients with MS were detected by ELISA and compared with those of 24 cases of inflammatory demyelinating polyneuropathy or 22 cases of healthy persons.Results CSF and serum levels of MBP were found increaed significantly in MS patients compared with those in IDP and in healthy controls(HC)(all P 0.05).The concentrations of MBP in CSF of MS significantly correlated with that of IL 16 in CSF( r =0.468, P 0.05).The concentration of MBP in CSF of MS significantly correlated with CSF that in serum( r =0.505, P 0.05).Conclusion MBP is one of the autoantigens that induce MS,IL 16 may be mainly produced in CNS due to MBP stimulation; IL 16 may act within CNS.
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Objective Study the expressions of intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1) in rat models of cerebral ischemia reperfusion and the protective effect of ?-Sodium Aescinate.Methods Rat models of cerebral ischemia-reperfusion were made using an intraluminal monofilament method and ?-Sodium Aescinate was given peritoneally to observe its protective effect. The histochemical change and the expression of ICAM-1, VCAM-1 were detected by HE staining and immunohistochemistry ways.Results (1) ?-Sodium Aescinate could obviously reduce the brain damage after ischemia reperfusion. (2) The expressions of ICAM-1, VCAM-1 in endothelial cells in ischemic territory increased after cerebral ischemia reperfusion. ICAM-1 immunoreactivity peaked at 24 h after reperfusion and VCAM-1 immunoreactivity peaked at 24～48 h after reperfusion. Both of them decreased gradually, but remained a higher level than normal 72 h after reperfusion. (3) ?-Sodium Aescinate could decrease the expressions of ICAM-1, VCAM-1 remarkably 24 h and 48 h after reperfusion.Conclusions High expressions of ICAM-1, VCAM-1 may be involved in the mechanism of cerebral ischemia reperfusion injury. ?-Sodium Aescinate may play its protective role by reducing the expressions of ICAM-1 and VCAM-1.