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Type Ⅰ sialidosis is a neurosomatic disorder related to the storage of lysosomal and induced by shortage of neuraminidase. It is an autosomal recessive disorder, maybe heterogeneous in its onset, clinical manifestations and prognosis. A case of type Ⅰ sialidosis with a missense mutation in the α-N-acetyl-neuraminidase (NEU1) gene is reported. The patient was characterized by reduced visual acuity, ataxia and subcortical myoclonus. Although the macular cherry red spots were not detected in the male patient, his bilateral visual evoked potential showed severely prolonged latencies of P100, which was consistent with continuous decline of his visions. Finally, he was treated with carbamazepine and clonazepam with moderate improvement in the symptom of myoclonus. In order to make the definite diagnosis, the importance of a clinical history integrating all the patient′s clinical manifestations and the mutation in NEU1 gene was highlighted. Regardless of being an uncommon disorder, the burden for those patients with sialidosis was significant. Therefore, this diagnosis in the relevant setting should always be considered.
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@#Ca2+ leak via ryanodine receptor type 2 (RyR2) can cause potentially fatal arrhythmias, and RyR2 mutations have been shown in the aetiology of catecholaminergic polymorphic ventricular tachycardia. We report the case of a patient with catecholaminergic polymorphic ventricular tachycardia resulting from a RYR2 mutation who had not only typical electroencephalogram changes, but also epileptiform discharges in electroencephalogram. We believe the changes were closely related to the RYR2 mutation.
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Objective In order to evaluate that whether Pluronic P85 coated poly(butylcyanoacrylate) nanoparti-cles was able to deliver antiepileptic drug phenytoin into the brain va bypassing mesial temporal lobe epilepsy (MTLE)-induced Pgp in a rat model of MTLE. Methods The rat model of MTLE, induced by li-pilocarpine, was divided in-to two groups (6 for nanoparticle drug group and 7 for PHT drug group). Immunohistochemistry assay was performed to detect Pgp expression at the hippocampus. Nanoparticles were prepared by interfacial polymerization method. Dialysate samples of brain were collected at 30, 60, 120, 180, 240 and 300 min after drug administration by microdialysis tech-nology. Samples were analyzed by high performance liquid chromatography (HPLC). Results The area under the curve (AUC) ratio of brain/plasma in Nanoparticle drug group was 0.370.10 which was significantly higher compared with 0.190.06 in conventional PHT drug group (P<0.05). The Pgp immunopositive area, as assessed by analysis of labeled surface area, was higher in the DG, CA3 and CA1 sector in the hippocampus of MTLE rats when compared to the normal rats. Conclusions Pluronic P85 coated PBCA nanoparticles can significantly deliver PHT into brain via bypassing MTLE-induced Pgp in a rat model of MTLE.
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To investigate the effects of carbamazepine (CBZ) on the plasma concentrations of valproic acid (VPA) and its toxic metabolite 2-propyl-4-pentenoic acid (4-ene VPA) in epileptic patients, the plasma concentrations of VPA and 4-ene VPA were determined, and the effect of CBZ on pharmacokinetics of VPA was evaluated. All patients had been divided into two groups (VPA group, n = 87; and VPA+CBZ group, n = 19). As compared to VPA group, the combination of CBZ significantly (P < 0.01) decreased the trough concentration of VPA [VPA group, (69.5 +/- 28.8) microg x mL(-1); VPA+CBZ group, (46.3 +/- 25.6) microg x mL(-1)] and does-adjusted VPA trough concentration [VPA group, (4.89 +/- 2.21) microg x mL(-1) x mg(-1) x kg(-1); VPA+CBZ group, (3.14 +/- 1.74) microg x mL(-1) x mg(-1) x kg(-1)]. However, the addition of CBZ did not influence the concentration of 4-ene VPA. The present study revealed that coadministration of CBZ can reduce VPA plasma concentration and may impact VPA clinical effect, therefore therapeutic drug mornitoring of VPA should be used when combined use of CBZ and VPA.
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Objective To investigate the reproductive endocrine status of women with epilepsy at childbearing age and to systematically analyze the clinical features of reproductive endocrine disorders,especially polycystic ovarian syndrome (PCOS),to facilitate early detection and timely intervention.Methods In this study,scoring of anthropometry and physical signs,menstrul assessment,examination of sex hormone and pelvic ultrasound in women with epilepsy at childbearing age were performed,and the data such as overweight,central obesity,oligo/amenorrhea,luteinizing hormone (LH)/follicule-stimulating hormone (FSH),hyperandrogenism and polycystic ovary (PCO) were collected. The characteristics of their reproductive endocrine hormone disorders were analyzed statistically. Results The age of these patients was (22. 5 ± 7.0 ) years,and women younger than 30 years old and at their peak fertility accounted for 84. 89%. The prevalence rate of PCOS in women with epilepsy at childbearing age (12. 75% ) was significantly higher than that of ordinary women at childbearing age (7.2%) in China.Highly specific indicators for PCOS were hyperandrogenism (100%),LH/FSH ＞ 2 (93%) and oligo/amenorrhea (90%),whilst the highly sensitive indicators for PCOS were PCO (92%), oligo/amenorrhea (85%) and hyperandrogenism (54%). This study revealed statistically significant difference in LH,LH/FSH and testosterone (T) between PCOS group (LH: (10.24 ± 6.92) IU/L; LH/FSH;(2.20 ± 1.16);T: ( 1.07 ± 0. 35) ng/ml) and non-PCOS group ( LH: (4. 16 ± 2.62 ) IU/L; LH/FSH:( 0. 87 ± 0. 56 );T: (0. 46 ±0. 25) ng/ml,t = -3. 899,-4. 240 and -4. 918 respectively,all P ＜0. 01 ). Conclusions Hormone indices are objective indicators for the diagnosis of PCOS. In clinical practice,attention should be paid to height,weight,abodominal circumference,menstrul history and ultrasound examination of the ovary in women with epilepsy.When reproductive endocrine hormone disorders are suspected from clinical features,the sex hormones (T,LH,and FSH ) should be checked to allow timely detection and early interventions.
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[Objective]This study was designed to identify the risk factors related with reproductive endocrinology disorder in Chinese women of child-bearing age with epilepsy.[Methods]The clinical data of 102 women with epilepsy were collected.The patient were grouped according to seven aspects(seizure onset age,seizure type,seizure frequency,duration of epilepsy,AED type,age of start AED therapy and duration of therapy)and the contribution of these factors in development of PCOS and its components were analyzed.[Results]The incidence of hyperandrogenemia in the patients with an early onset age(≤14 years old)was higher than the ones with an onset age＞14 years old.Onset age≤14 was the risk factor of hyperandrogenemia in logistic regression analysis.The incidence of a/oligomenorrhea,polycystic ovaries,hyperandrogenemia and PCOS in the valproate-treated women were 40.63%,50.00%,15.65%,and 34.38%,respectively,which were higher than the no-therapy group and nonvalproate treated group.Valproate therapy was the risk factor of PCOS and its components.[Conclusion]Valproate therapy was the risk factor of PCOS and its components in Chinese women of child-bearing age with epilepsy.Onset age≤14 was the risk factor of hyperandrogenemia.
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Objective To evaluate the efficacy and tolerability of zonisamide (ZNS) as add-on therapy in patients with refractory partial seizures.Methods In this Chinese muiticenter, double-blind, randomized, placebo-contrclled trial, ZNS was compared with placebo add-on therapy in 217 patients (intent-to treat (ITT) population) with uncontrolled partial-onset seizures.All patients entered a 3-month baseline period followed by a 4-week titration interval and a 12-week maintenance period.The starting dose of ZNS group was 100 mg/d, increased by 100 mg/d every week and reached the goal of 400 mg/d.The main outcome was measured by the median of the percentage of decreased seizure frequency.The secondary ouwomes points included the percentage of patients who had seizure attacks decreased by more than 50%,and adverse events.Results The median of the percentage of decreased seizure frequency in ZNS group was 33.33%, and the placebo group was 0.Thirty-eight patients (34.23%) experienced more than 50% reduction in the seizure frequency in ZNS group, compared with 19.81% of patients (21 cases) in the placebo group (χ2 =5.7159,P =0.0168) ; Moreover, 13 (11.71%) patients in ZNS group and 5 patients in placebo group were seizure free, 25 patients in ZNS group and 16 patients in placebo group who had seizure attacks decreased by more than 50%.The availability rate in ZNS group was higher than placebo group (34.23% vs 19.81%, U=2.4701, P=0.0135).The most common adverse events in ZNS group were drowsiness, fatigue, decreased appetite, gastrointestinal complaints, insomnia and constipation.Conclusion Zonisamide treatment was generally well tolerated and was associated with significant reductions in seizure frequency as adjunctive treatment for partial-onset seizures.
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Objective To assess the clinical efficacy and safety of topiramate in adult and children patients with epilepsy. Methods Open-label experience with topiramate as adjunctive, added-on to monotherapy and monotherapy were analyzed.The efficacy was assessed by comparing the average frequency per month for 3 months after topiramate added to the maintenance period of the baseline therapy. Results Topiramate was proven to be a valuable new antiepileptic drug either in monotherapy (86%) or in added-on therapy (70%) on partial onset epilepsy, West syndrome and Lennox-Gastaut syndrome, and showed no tolerance.The topiramate dosage in patients with monotherapy [(85.87?29.19)mg/d in adult] is lower than in those using added-on therapy [(161.11?58.18)mg/d] significantly, and the most common adverse events were CNS-related, but few patients had discontinued the therapy.Conclusions The topiramate used for monotherapy or added-on therapy should be regarded as an effective and widespread antiepileptic drug, without tolerance and severe adverse actions.