ABSTRACT
Infective endocarditis (IE) is an infectious disease that affects the inner surface of the heart. Its first symptom often manifests as a localized neurological deficit, which can conceal the diagnosis of IE and delay the treatment. Here is a report of a severe case of IE with complicated central nervous system complications admitted to the First Hospital of Jilin University, so as to improve clinicians′ attention to the diagnosis and treatment of such conditions.
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Glucose transporter type 1 deficiency syndrome is a rare neurometabolic disorder caused by mutations of the solute carrier family 2 facilitated glucose transporter member 1 (SLC2A1) gene,characterized by complex manifestations including early onset epilepsy,motor and mental retardation,and movement disorders and so on.Ketogenic-diet is most suitable therapy and should be commenced as early as possible because timing the initiation of the diet may prevent seizure,movement disorder,and cognitive impairment.This review aims to improve the clinicians' understanding of glucose transporter type 1 deficiency syndrome to ensure the diagnosis as early as possible.
ABSTRACT
Glucose transporter type 1 deficiency syndrome is a rare neurometabolic disorder caused by mutations of the solute carrier family 2 facilitated glucose transporter member 1 (SLC2A1) gene, characterized by complex manifestations including early onset epilepsy, motor and mental retardation, and movement disorders and so on. Ketogenic-diet is most suitable therapy and should be commenced as early as possible because timing the initiation of the diet may prevent seizure, movement disorder, and cognitive impairment. This review aims to improve the clinicians′ understanding of glucose transporter type 1 deficiency syndrome to ensure the diagnosis as early as possible.
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy(CADASIL)is a common hereditary disease caused by NOTCH3 gene. The major clinical manifestations includerecurrent small-vessel ischaemic events, migraine, dementia and mood disturbance. Herein, wereport a 32-years-old male presented with right leg weakness and persistent migraine. We carried outneurological exams, genetic testing, blood and cerebrospinal fluid analysis (CSF) as well as magneticresonance imaging (MRI) for the brain and spinal cord. There were no anti-aquaporin-4 antibodiesand oligoclonal bands in the CSF and blood investigations were within the normal range. MRI scansrevealed multiple hyperintense regions in the brain and longitudinally hyperintense signal in spinal cord.Further, we identified a c.383G>A(p.Cys128Tyr) mutation in NOTCH3 gene. Therefore, the patientwas diagnosed with CADASIL concurrent with spinal cord lesion. The patient’s condition slightlyimproved after two weeks treatment with daily dosage of 0.5 g citicoline and 75 mg clopidogrel.
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Multidrug resistance proteins (MRP2, ABCC2) may play a role in drug resistance in epilepsy by limiting gastrointestinal absorption and brain access of antiepileptic drugs (AEDs). We sought to investigate the effects of ABCC2 polymorphisms on plasma carbamazepine (CBZ) concentrations and pharmacoresistance in Chinese patients with epilepsy. ABCC2 rs717620, rs2273697, rs3740066 polymorphisms were genotyped by polymerase chain reaction amplification followed by restriction fragment length polymorphism analysis or direct automated DNA sequencing in 80 patients treated with CBZ monotherapy. There were no differences in CBZ maintenance doses or adjusted plasma CBZ concentrations among the ABCC2 rs717620, rs2273697 and rs3740066 genotypic groups. No associations between all the studied genotypes and haplotypes involving the three SNPs of ABCC2 and CBZ resistance were observed in this patient cohort. These results suggest that ABCC2 polymorphisms may not contribute to interindividual variabilities in CBZ daily maintenance doses, plasma concentrations, and treatment efficacy.
Subject(s)
EpilepsyABSTRACT
Objective The poor sleep quality of epileptic patients may be partly due to the occurrence epileptiform discharges (EDs).We observed the number of interictal discharges in each sleep stage and explored the associations between EDs and sleep phases in epilepsy patients.Methods Two hundred and forty epileptic patients and 213 healthy volunteers were enrolled in the current study.For all subjects,video-electroencephalogram monitoring and 24 h-night polysomnography were conducted to detect EDs and analyze the sleep structures.Results EDs were detected in 88.7％ (213/240) of epilepsy patients with the most frequent cases from the temporal lobe.The EDs detected during waking,sleeping,or both waking and non-rapid eye movement (NREM) sleep stage accounted for 20.6％ (44/213),40.4％ (86/213),and 38.9％ (83/213) of the total patients,respectively.The total sleep time and time spent in REM were similar between the epileptic patients and healthy volunteers.However,epileptic patients spent a significantly longer mean sleep time in NREM Ⅰ-Ⅱ ((304 ±39) min versus (225 ±29) min,t =3.51,P =0.000) and less in NREM Ⅲ-Ⅳ ((49 ± 7) min versus (133 ± 17) min,t =2.30,P =0.000) than healthy volunteers.Furthermore,asymmetric sleep spindles and fragmentary sleep structure as well as high inversion frequency were found in epilepsy patients,respectively.Conclusion Combination of long-term video electroencephalogram with polysomnography is a useful method to analyze associations between EDs and the sleep-wake cycle.This strategy can also help identify the nature of sleep disorders in epileptic patients,which may improve the treatment efficacy.
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Objective: To investigate the association between the CYP3A5 genetic polymorphism and the serum concentrations of carbamazepine (CBZ), to provide guidance for individualized drug dosing. Methods: Eighty-four epilepsy patients taking CBZ were included in this study. Their clinical data were recorded and CBZ serum concentrations were measured. The CYP3A5 6986 genetic polymorphism was assessed using a polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) assay. Patients were divided according to genotype into CYP3A5 expressor (CYP3A5*1/*1 genotype and CYP3A5*1/*3 genotypes) and non-expressor groups (CYP3A5*3/*3). The two groups were compared for the total dose of CBZ, dose of CBZ/kg body weight, serum drug concentration, dose-corrected serum concentration, and standardized serum concentration. Results: The total dose of CBZ and the dose of CBZ/kg body weight was higher in the CYP3A5 expressor group than the non-expressor (P = 0.043 and P = 0.014, respectively). The dose-corrected and standardized serum concentrations were lower in the CYP3A5 expressor group than the non-expressor (P = 0.001 and P < 0.001, respectively). There was however, no signifi cant difference in serum drug concentration between the two groups (P = 0.487). Conclusions: There was a close relationship between CYP3A5 genetic polymorphism and the serum concentrations of carbamazepine.
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Objective To investigate the charateristics of pathological changes in hippocampal subregions in rats with epilepsy induced with different doses kainic acid(KA) ,discuss the etiology and pathway of epileptic wave.Methods 30 male Wistar rats were randomly divided into control group,low(0.025 ?g) and high(0.1 ?g) dose KA injection groups with 10 rats each.KA was focally injected into the right amygdala by a glass micropipette connected to an air pressure system to make epilepsy model.The pathological characteristics in hippocampal subregions in rats with epilepsy induced with different doses KA were observed.Results Compared with control group,high dose KA injection mainly caused neuron loss in the CA3 region,while pyramidal and dentate granule cells were evenly distributed with normal shape and size.Low dose KA injection caused severe damage in both CA1 and CA3 regions.Dentate granule cells didn't show any pathological change and neuron loss in low dose injection.Conclusion The pathological changes in hippocampal subregions in rats with epilepsy induced with KA are different with different doses KA,it might be related to the pathway of epileptic wave and the specific properties of hippocampus.
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Objective To investigate the expression of connexin CX43 using hybridization techniques after GABA restraining receptor gene was transferred into the supramammillary of hypothalamus in Kainic acid(KA) induced epileptic rats.Methods Twenty-four male Wistar rats were divided into four groups: control group(n=2),surgery group(n=2),KA group(n=10) and GABA restraining receptor gene transferred group(GABA group)(n=10).No treatment was given to the control group.Physiological saline(1 ?L) was injected into right amygdala of rat in surgery group.In KA group,KA(1 ?L,1 ?g) was injected into the amygdala of rat to build epileptic model.In GABA group,the GABA restraining receptor gene(400 nL,40 ng) was transferred into the supramammillary of hypothalamus by HVJ-liposome 48 h before KA was injected into amygdala.The expressions of CX43 mRNA and morphological changes different time(3 h,6 h,24 h,3d,7d) were observed by in situ hybridization in each group.Results In control group and surgery group,the morphological manifestations were normal,and the hippocampus structures were complete.In KA group,swell and degenerative hippocampus neurons were showed and deteriorated with time.In GABA group,the degeneration and necroses of hippocampus neurons were relatively alleviated.The positive expression of CX43 mRNA was few in control group and surgery group.And in KA group it increased with time.In GABA group,the positive expression of CX43 mRNA was fewer than that of KA group at every period.Conclusion The expression of CX43 mRNA in hippocampus can be decreased by transferring GABA receptor gene into hypothalamus.