الملخص
<p><b>Background</b>Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNA) gene has previously been associated with maternally inherited diabetes and deafness. However, the association between MERRF and mitochondrial T14709C mutation (m.T14709C) has never been reported before.</p><p><b>Methods</b>Clinical information of a 17-year-old patient was collected; muscle biopsy and next-generation sequencing (NGS) of whole mitochondrial and neuromuscular disease panel were then conducted. Finally, sanger sequencing was carried out to confirm the mutations.</p><p><b>Results</b>The patient presented a typical MERRF phenotype with muscle weakness, epileptic seizure, clonic episodes, cerebellar ataxia, and spinal scoliosis. Muscle biopsy showed RRFs which indicated abnormal mitochondrial functions. NGS of whole mitochondrial gene revealed m.T14709C mutation, confirmed by Sanger sequencing.</p><p><b>Conclusion</b>We present a sporadic patient with typical MERRF presentation carrying the mutation of m.T14709C, which expanded the spectrum of m.T14709C.</p>
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AIM:To explore relationship between the normal strehl ratio ( SR ) values of total aberrations/SR values of total higher-order aberrations and modulation transfer function ( MTF ) at total corneal at different pupil diameters in normal population. METHODS: To exam the SR values of total aberrations and SR values of total higher-order aberrations of total corneals in 200 people ( 400 eyes ) using SIRIUS 3D topography system and analysis the corresponding root-mean-square ( RMS) . RESULTS: The subjects with different pupil diameters (3. 0, 5. 0, 6. 0, 7. 0mm)'s exam results of total corneal were as following:SR value of total aberrations 100’(0. 45±0. 12), (0. 25±0. 06), (0. 17±0. 05), (0. 13±0. 04); SR value of total higher order ab cerrations 100’(0. 69±0. 14), (0. 34±0. 07), (0. 24±0. 05), (0. 16±0. 04);SR value of total aberrations 200’(0. 45±0. 12), (0. 24±0. 06), (0. 20±0. 04), (0. 16±0. 03); SR value of total higher order aberrations 200’(0.70±0. 13), (0. 35±0. 07), (0. 27±0. 06), (0. 20±0.04 ) . The SR values of each group decreases with the increases of pupil diameters. The SR values of total aberrations and SR values of total higher - order aberrations at total corneals are negatively correlated with corresponding RMS value. When the pupil diameter is small, the SR value of total aberrations is more related to higher frequency region of MTF. When the pupil diameter is big, the SR value of total aberrations is more related to lower frequency region of MTF. CONCLUSION: The visual performance of normal people can be well reflected by SR values of total aberrations and SR values of total higher - order aberrations at total corneal.
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Objective To study the effects of recombinant human erythropoietin (rhEPO) on learning and memory functions and expressions of apoptosis-related proteins (P53 and Bcl-2) in rats induced by chronic cerebral ischemia.Methods Sixteen healthy male SD rats were randomly divided into control group and experimental group (n=8); the permanent bilateral occlusion of common carotid arteries in these rats was adopted to establish the chronic cerebral ischemia models; rats in the experimental group weekly received intranasal rhEPO delivery at the dose of 150 U/125 μL after chronic ischemia for 3 days,whereas models in the control group accepted equivalent volume of saline at the same time.Eight weeks after the inducement,Morris water maze test was performed to evaluate the movement and the spatial learning and memory capabilities.Morphology changes of cerebral cortex and hippocampal CA1 nerve cells were observed by HE staining.P53 and Bcl-2 proteins levels were detected by immunohistochemistry.The number of apoptotic cells was detected by means of TUNEL.Results Morris water maze test showed that shorter escape latency and higher frequency through platform in the experimental group were noted as compared with those in the control group (P＜0.05).HE staining indicated that less pyramidal cells and more serious karyopyknosis changes of cerebral cortex and hippocampal CA1 nerve cells and thinner cerebral cortex in control group were noted as compared with those in the experimental group (P＜0.05).Immunohistochemistry indicated that the experiment group had increased Bal-2 expression and mean gray value of P53 as compared with control group (P＜0.05).TUNEL showed that the apoptotic cells of control group were significantly increased as compared with those in the experimental group (P＜0.05).Conclusion The rhEPO can improve the abilities of movement,memory and spatial orientation in rats induced by chronic cerebral ischemia,whose mechanism might be related to the restrain apoptosis.
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Objective To study the influence of recombinant human erythropoietin (rHEPO) in expressions of nuclear factor-erythroid 2-related factor 2 (Nrf2) and heme oxygenase-1 (HO-1) in rats after acute cerebral ischemia, explore the anti-oxidant mechanism of rhEPO. Methods Thirty-six healthy male SD rats were randomly divided into sham-operated group,model group,rhEPO treatment group.The rat models of left middle cerebral artery occlusion in the later 2 groups were induced by suture method.rhEPO (5000 IU/kg) was injected intraperitoneally into the rats ofrhEPO treatment group 2 hafter the success of ischemia model making, while those of the sham-operated group and model groupwere given equal volume of saline.Rats were sacrificed 24 h after ischemia; and the levels of Nrf2 andHO-1 in the brain tissues were detected by immunohistochemistry and Western blotting. Results The immunohistochemistry showed that,as compared with those in the sham-operated group,the Nrf2- and HO-1- positive cells obviously increased in rats of the model group and rhEPO treatment group (P＜0.05),and rats of the rhEPO treatment group had significantly larger numbers of Nrf2- and HO-1- positive cells than rats of the model group (P＜0.05); these positive cells were mainly neurons and astrocytes located in ischemic areas.Western blotting also indicated that the expressions of Nrf2 and HO-1 were enhanced in the order of sham-operated group, model group and rhEPO treatment group; statistically significant difference was noted between each 2 groups (P＜0.05). Conclusion The rhEPO may exert a neuroprotective effect by activating Keap1-Nrf2/ARE pathway after acute cerebral ischemia.
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@#ObjectiveTo probe the clinical features,diagnosis and treatment of idiopathic generalized myokymia.MethodsSeven patients with idiopathic generalized myokymia were analysed retrospectively.ResultsAll 7 patients showed prominent myokymia characterized by undulating and vermicular movements spreading across the muscle surface. The myokymia in gastrocnemius muscles in all cases. The myokymia also appeared in both upper extremities in 5 patients,and in faces,waist,back,abdomen and all extremities in 2 patients. Muscle rippling movement was induced and increased by exercise,and persistent during sleep. The vermicular myokymia could be observed easily in the relaxation of the muscles. Electromyography tests showed myokymic discharges in 5 patients,but normal in 2 patients. 5 patients of them were cured with carbamazepine and phenytoin sodium.ConclusionThere are typical clinical features and effective treatment in the patients with idiopathic generalized myokymia.