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Hereditary spastic paraplegia type 58 is rare, caused by pathogenic variations in KIF1C gene. Here, a case diagnosed in Qilu Hospital, Shandong University, was reported. The 15-year-old female suffered tremor in bilateral upper limbs which was aggravated gradually since age 8. Cerebellar ataxia, positive pyramidal tract sign and dystonic tremor were prominent on physical examination. The brain magnetic resonance imaging showed T 2-hyperintense signals in bilateral pyramidal tracts, optic radiations and superior cerebellar peduncles, with mild cerebellar atrophy. Whole exon sequencing revealed the unreported homozygous c.425_426delTG (p.V142Gfs*10) mutation which was presumed pathogenic.
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Objective To optimize the measurement and analysis method for carbon-14 in environmental biological samples, and to provide technical support for the formulation of standard methods for carbon-14 measurement in environmental biological samples. Methods Through the optimization research on the carbon dioxide absorption method, the moisture content and carbon content of biological samples were measured with the moisture meter and the element analyzer according to the simplified personnel operation and the optimized process steps of the method, and intra- and inter-laboratory validation of the method was carried out. Results Under typical conditions, the lower limit of detection of the method reached 3 Bq/kg, and there were a relative standard deviation within laboratories of less than 17% and a relative standard deviation between laboratories of less than 14%, with a relative error of less than 19%. Most of the sample pretreatment was directly completed by the instrument and equipment, which improved the precision and accuracy of the measurement of moisture content and carbon content in samples, and reduced the influence of experiment personnel’s operation differences on the test results. Conclusion The lower limit of detection, precision, and accuracy of the optimized method meet the relevant requirements for the determination of carbon-14 in biological samples.
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<p><b>OBJECTIVE</b>To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).</p><p><b>METHODS</b>Clinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.</p><p><b>RESULTS</b>The genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father.</p><p><b>CONCLUSION</b>Based on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.</p>
Subject(s)
Adult , Child, Preschool , Female , Humans , Male , Asian People , Genetics , Base Sequence , China , Glycogen Debranching Enzyme System , Genetics , Metabolism , Glycogen Storage Disease Type III , Genetics , Molecular Sequence Data , Pedigree , Point MutationABSTRACT
Objective To investigate the effects of remifentanil on NF-κB activity in a rabbit model of myocardial ischemia/reperfusion (I/R) injury. Methods Fifty New Zealand white rabbits were randomly divided into 5 groups (n = 10 each): sham operation group (group S); group I/R; low dose of remifentanil group (group L); median dose of remifentanil group (group M); high dose of remifentanil group (group H). In group I/R, L,M and H, myocardial I/R was produced by occlusion of left anterior descending artery for 30 min followed by 120 min reperfusion.In group S and I/R,10 min before ischemia,normal saline was infused at 5 ml·l·h-1 via the external jugular vein until the end of 120 min reperfusion. In group L, M and H, remifentanil was infused at 1, 5 and 10ug·kg·min-1 respectively 10 min before ischemia until the end of 120 min reperfusion,and the other procedures were the same as those in group I/R. The myocardial tissues were taken at the end of 120 min reperfusion for determination of NF-κB expression which was used to reflect the activity of NF-κB and microscopic examination. Results The activity of NF-κB was significantly higher in group I/R, L, M and H than in group S. The activity of NF-κB was gradually decreased with the increase in the dose of remifentanil in group L, M and H compared with group I/R. The microscopic examination showed that remifentanil significantly attenuated I/R-induced injury in a dose-dependent manner. Conclusion Infusion of remifentanil reduces myocardial I/R injury through decreasing the activity of NF-κB in a doee-dependent manner.
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Objective To study the effects and mechanism of Huangqi against myocardium injury induced by ischemia and reperfusion in rats. Methods Totally 30 male Sprague-Dauley rats were randomly divided into three groups: control group (C group), ischemia/reperfusion group (I/R group), ischemic pretreatment with Huangqi group (H+I/R group), with 10 rats in each. The left anterior descending (LAD) coronary artery was ligated to establish the ischemia/reperfusion heart model. Huangqi was administered before the model was established in the H+I/R group. The pathologic changes of myocardial tissues (under light and electron microscopy), content of creatine kinase (CK), lactate dehydrogenase (LDH), malondialdehyde (MDA) and the activity of superoxide dismutase (SOD) in serum, as well as activities of Na~+K~+-ATPase and Ca~(2+)-ATPase in myocardial tissues were observed. Results Light and electron microscopic examination showed that the necrotic degeneration and pathologic changes of myocardiocytes in Huangqi group were significantly milder than those in the model group. The levels of CK, LDH, MDA were decreased significantly in Huangqi group (P<0.05), the activities of SOD, Na~+K~+-ATPase and Ca~(2+)-ATPase in myocardial tissues in Huangqi group significantly increased (P<0.05). Conclusion Huangqi shows a significantly protective effect on myocardial I/R injury in rats. The mechanism may be related to multiple factors, including improving microcirculation, forming anti-oxygen free radicals and decreasing calcium overload.
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Objective To study the effects and mechanism of Huangqi against myocardium injury induced by ischemia and reperfusion in rats.Methods Totally 30 male Sprague-Dauley rats were randomly divided into three groups: control group(C group),ischemia/reperfusion group(I/R group),ischemic pretreatment with Huangqi group(H+I/R group),with 10 rats in each.The left anterior descending(LAD) coronary artery was ligated to establish the ischemia/reperfusion heart model.Huangqi was administered before the model was established in the H+I/R group.The pathologic changes of myocardial tissues(under light and electron microscopy),content of creatine kinase(CK),lactate dehydrogenase(LDH),malondialdehyde(MDA) and the activity of superoxide dismutase(SOD) in serum,as well as activities of Na+K+-ATPase and Ca2+-ATPase in myocardial tissues were observed.Results Light and electron microscopic examination showed that the necrotic degeneration and pathologic changes of myocardiocytes in Huangqi group were significantly milder than those in the model group.The levels of CK,LDH,MDA were decreased significantly in Huangqi group(P
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Objective To investigate the effects of inhaling isoflurane and enflurane on the spontaneous neural discharge of the neurones in rat hippocampus. Methods Whole cell patchclamp recording te chnique was used to observe the effects of isoflurane and enflurane on the spont aneous discharge rate of the neurons in the hippocampus on the brain slice of ne w-born SD rats. After decapitation, the whole brain of the rat was removed and put into artificial cerebrospinal fluid (ACSF) saturated with 1.36 g?L -1 O 2 and 0.098 g?L -1 CO 2 mixed gas at 4 ℃ . Brain was cut into 300～400 ? m thick slices containing the hippocampus. Whole cell patchc lamp recording technique was used to observe the effects of isoflurane with dif ferent concentrations on the spontaneous discharge rate of neurons in the hippoc ampus on the brain slices. Results Isoflurane and enfluran e could significantly inhibit the spontaneous neural discharge of neurons in the hippocampus in a dose-dependant manner. The effects of spontaneous neural disc harge of hippocampus inhibited by isoflurane (0.12 g?L -1 ～0.36 g?L -1 ) and enflurane (0.2 g?L -1 ～0.6 g?L -1 ) could be recove red following washing off with ACSF for 5 min. Conclusion T he spontaneous discharge rate of neurons in the hippocampus can be reversibly in hibited by isoflurane and enflurane. Hippocampus may be an important action site of anesthetics isoflurane and enflurane in the central nervous system.