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<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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@#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.