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Objective:To study the clinical, imaging and genetic characteristics of two Chinese families with oculopharyngeal muscular dystrophy (OPMD).Methods:The clinical data of the two families found in our hospital in August 2016 and May 2018 were analyzed. All the members were investigated in detail, and the clinical and imaging data of the probands were analyzed. Blood samples were collected from 22 members of the two families and PABPN1 gene analysis was performed. Results:There were 4 patients in family 1 with four generations and 4 patients in family 2 with three generations. The two probands presented ptosis, dysphagia at the age of 50 and 55. The proband of family 1 also showed diplopia, amyotrophy, weakness of proximal limbs, neurogenic changes in electromyogram (EMG), muscle fibers with rimmed vacuoles in muscle pathology, aspiration pneumonia in chest CT, and brainstem symmetric white matter lesions in cranial MR imaging. The proband of family 2 also showed eye muscle paralysis and lateral limb weakness, myogenic changes in EMG, bilateral parietal and right frontal lacunar infarctions in cranial MR imaging. Analysis of PABPN1 gene showed that the repeated mutation of PABPN1 trinucleotide (GCN) in 2 families was amplified from normal (GCG) 6(GCA) 3(GCG) to (GCG) 6(GCA) 3(GCG) 2(GCA) 3(GCG). Conclusion:OPMD has clinical heterogenicity; symmetrical white matter lesions in the brainstem might be found in cranial MR imaging; Chinese patients with OPMD have PABPN1 gene mutation, specificly manifested as (GCG) 6(GCA) 3(GCG) 2(GCA) 3(GCG) repeat mutations.
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Objective To investigate whether iron mass induces HO-1 overexpression and explore the role of HO-1 in rat intracerebral hemorrhage(ICH). Methods In this study,144 hydrated chloride aldehyde-anesthetized Sprague- Dawley rats were used,autologous blood were injected into the right caudate nucleus to establish the ICH model.Saline injection and health were served as controls.Deferoxamine(DFO)with an intraperitoneal injection served as intervention group.Enhanced Perl's reaction was used for iron staining and brain iron deposits were determined.Brain HO-1 level were examined by immunohistochemical analysis and reverse transcription polymerase chain reaction(RT-PCR). Results There was a 21-fold increase in iron deposits around the hematoma 7 days after the infusion of 100 μl of autologous blood.Markedly increased levels of perihematomal HO-1 immunoreactivity and HO-1 mRNA in all ICH rats were detected at 3-14 days.The addition of DFO significantly reduced iron deposits in the ipsilateral basal ganglia at 7-14 days after ICH.DFO also inhibited HO-1 overexpression at day 7,14.Correlations test showed that there were positive correlations of iron sediments with HO-1mRNA(r=0.647)and HO-1 immunopositive cells(r=0.209). Conclusions ICH causes iron accumulation in the brain.Iron overloading may induce HO-1 upregulation after ICH.Ratherly,the HO-1 moderate increasing possibly fits with the events,whereas HO-1 overexpression may result in its dysfunction.It may be prudent to intervene ICH with HO-1 inhibitor.
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Objective To explore the children and their family's specialties in attention-deficit hyperactivity disorder(ADHD).Method 60 cases of ADHD was diagnosed by employing ADHD Behavior Screen with DSM-IV .The control group was confirmed according to 1:1age and sex matched case control study design, then all children were surveyed themselves and family neuropsytric condition with questionnaire, Analyzed data with SAS6 12 statistics software.Results Children and family neuro-psytric surveying questionnaire showed that there were significant difference in partial or particular diet, habit of biting nail, family anamnesis, relation of parents, relation of parent-child, attitude of parents, uprearing mode of parents, characteristics of parents. Logistic elimination regression analysis indicated that partial-meal , biting-nail, mother's non-vivacious character and bad parental relation were the significant risk factors.Conclusion The bad habit of children and wrong family surrounding will promote occurrence of ADHD. Rectifing children's habits , changing mother's cyclothymia and cultivating good relation of father,doing so,the son might decrease incidence of ADHD.
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Objective To study the event related potentials(P 2,N 2, P 3 latency and wave altitude) in children with atention deficit hyperactinity disorder(ADHD). Methods ADHD case group was diagnosed by employing ADHD Behavior Screen with DSM Ⅳ and Neuro psychic Examination. The normal control group was confirmed according to sex and age matched design.All the children were evoked ERP with aural oddball paradigm and the data analyzed with SAS 6.12 statistics software.Results In ADHD group, error frequency in counting target stimulant of event related potentials was higher( P