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71.
PurposeTo describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size.MethodsThe Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review. Deletion size was determined by DNA microarray.ResultsA history of regression at any age was present in 43% of all patients. Among those exhibiting regression, 67% had onset after the age of 30 months, affecting primarily motor and self-help skills. In 63% of all patients there was a history of seizures and a history of abnormal EEG was also present in 71%. No significant associations were found between regression and seizures or EEG abnormalities. Deletion size was significantly associated with EEG abnormalities, but not with regression or seizures.ConclusionThis study found a high rate of regression in PMS. In contrast to regression in autism, that often occurs earlier in development and affects language and social skills, we found regression in PMS most frequently has an onset in mid-childhood, affecting motor and self-help skills. We also found high rates of seizures and abnormal EEGs in patients with PMS. However, a history of abnormal EEG and seizures was not associated with an increased risk of regression. Larger deletion sizes were found to be significantly associated with a history of abnormal EEG. 相似文献
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73.
《Neurological research》2013,35(5):430-438
AbstractObjective: The aim of this study was to investigate whether NMDA receptor was involved in the upregulation of multidrug resistance protein 2 (Mrp2) expression during status epilepticus (SE).Methods: The alterations in the expression of Mrp2 at various time points after SE, and the inhibition of glutamate N-methyl-D-aspartate (NMDA) receptor on Mrp2 expression in hippocampus were both tested by quantitative real-time polymerase chain reaction and western blot. Moreover, immunofluorescence was also used to analyze the impact of the NMDA receptor antagonist, MK-801, on the distribution of Mrp2 in different brain areas.Results: The results showed that gene encoding Mrp2 was upregulated in hippocampus at 6 hours after the end of SE, and this initial increase was followed by gradual normalization. While between 3 and 72 hours after the end of SE, the protein level of Mrp2 was upregulated in hippocampus, with the highest level emerging at 24 hours. The increment of Mrp2 gene and protein induced by SE was prevented by MK-801 at 6 and 24 hours respectively after the end of SE in the hippocampus. Moreover, immunofluorescence showed that seizures-induced increase of Mrp2 expression was attenuated by the administration of MK-801 mainly in capillaries. Rats after SE exhibited a significant upregulation of Mrp2 in the capillary endothelial cells of the cerebral cortex, piriform cortex, and hippocampus, compared with those in control at 24 hours after the end of SE.Conclusion: The results indicated that the NMDA receptor plays an important role in the upregulation of Mrp2 expression in the blood–brain barrier. 相似文献
74.
M Vento LS De Vries A Alberola M Blennow S Steggerda G Greisen N Boronat 《Acta paediatrica (Oslo, Norway : 1992)》2010,99(4):497-501
In the neonatal period, seizures rank among the most common neurological symptoms, often indicating an underlying serious neurological condition. It is remarkable that although new tools have been incorporated into the diagnosis of neonatal seizures, there is no consensus about the therapeutic approach among different doctors and institutions. Hence, although phenobarbital is still considered the initial drug of choice, the protocols reported in the literature show a great variability in the approach to treatment of refractory seizures. We used a questionnaire to gain information regarding the treatment of seizures in the neonatal period in different European institutions. Conclusion: We conclude that phenobarbital is still the initial drug of choice followed by benzodiazepines, except in preterm infants with a birth weight below 1800 g. In refractory seizures, the use of continuous lidocaine infusion is most common. Of note, clinical studies with newer drugs have been mostly performed in the United States but not in Europe. 相似文献
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76.
Objective To investigate the changes of melatonin and cellular immunological function in children with febrile seizures and its clinical significance. Methods 50 children, including 23 cases with complex febrile seizure (CFS) and 27 cases with simple febrile seizure (SFS) , and 25 cases with upper respiratory infections children selected as control group were enrolled in this study. Serum melato- nin was measured by enzyme-linked immunosorbent assay (ELISA) and cellular immunological function was measured by flow eytomcter. Results The levels of serum melatonin in the 3 groups of CFS, SFS, control were(14. 91±2. 61) ng/L, (20. 72±2. 54) ng/L, (23.93± 2. Ol) ng/L, respectively. The melatonin levels in CFS children were significantly decreased than that in control group and SFS children (P <0. O1). CD3 + ,CD4 +, the ratio of CD4 + /CD8 + and CD8 + in CFS group were significantly decreased than that in control group and SFS group (P <0.01). The ratio of CD4 +/CD8 + in SFS group was significantly decreased than that in control group (P <0.05), but CD3 + ,CD4 + and CD8 + had no statistics significance among these groups(P >0. 05). The serum rnelatonin level were positive related withdecreaseddegreeofCD3+,CD4+ andtberatioofCD4+ /CDS+ (r≥0. 472, P <0.05). Conclusion The disorder cfcellular immunological function was possible related with the loss of serum melatonin, and the loss of serum melatonin maybe one of the reasons for febrile seizures relapse and brain injured. 相似文献
77.
A total of 21 cases of childhood neurocysticerosis seen over five years (1985–89) at JIPMER hospital Pondicherry, are reported.
Nine of these patients were males and twelve females. Their age ranged between 5 to 15 years. The presenting features were
convulsive seizures (14), features of raised intracranial pressure (6) and meningoencephalitis syndrome (1). Diagnosis of
neurocysticercosis was based on positive CSF serological tests (11), CT morphology (11), brain biopsy (1) and autopsy (1).
Praziquantel therapy was given in 4 cases, 3 of them showed remarkable improvement in neurological status and one died of
acute reaction. 相似文献
78.
Intra- and extracellular recording techniques were used to study the epileptiform activity generated by guinea pig hippocampal slices perfused with free-magnesium artificial cerebrospinal fluid in the presence of physiologic (4 mM), reduced (2 mM) or elevated (8 mM) extracellular potassium concentrations ([K(+)](o)). Extracellular field potentials along with intracellular recordings were recorded in CA1 or CA3 region. Reduction of [K(+)](o) significantly increased the latency of epileptiform field potential (EFP) appearance as well as burst discharge duration and decreased EFP repetition rate. Depending on different background [K(+)](o), epileptiform burst discharges appeared in different patterns including varied types of paroxysmal depolarisation shifts and burst activity in CA1 and CA3 subfields. Comparison with physiological and increased [K(+)](o,) reduction of [K(+)](o) significantly increased the mean duration of bursts, mean amplitude of depolarisation, mean after-hyperpolarisation duration, and inter-spike intervals in both CA1 and CA3 areas. Three distinct patterns were distinguished on the basis of their evoked firing pattern in response to application of depolarising current pulses in the interval of epileptiform burst discharges. Neurons superfused with 2 mM [K(+)](o) presented fast adapting pattern while cells washed with 4 or 8 mM [K(+)](o) exhibited intrinsically bursting or slow adapting patterns. Comparing the groups with different background [K(+)](o), there is a more severe form of discharges in low K(+) and a subtle difference between 4 and 8 mM K(+). The data indicate the importance of background [K(+)](o) on epileptiform burst discharge pattern and characteristics. 相似文献
79.
Successful neurosurgical treatment of childhood complex partial status epilepticus with focal resection 总被引:1,自引:1,他引:0
The treatment of complex partial status epilepticus continues to be controversial, especially with regard to the intensity of the treatment. Medical therapy and drug-induced coma are sometimes required. Rarely this may not be effective. A healthy 4-year old girl was first seen in complex partial status epilepticus. She had a 1-year history of cryptogenic partial-onset seizures. Detailed magnetic resonance imaging (MRI) studies were normal. Her course was refractory to multiple medical therapies and multiple subpial transection (MST). An urgent epilepsy surgery evaluation resulted in a focal cortical resection being performed over the right mesial parietal region with resultant seizure freedom and no significant neurologic deficit 2 years later. This patient illustrates the need to consider occult focal cortical dysplasia as a cause of nonconvulsive status epilepticus (NCSE) in children, and if it is not responsive to medical management, the utility of performing an urgent epilepsy surgery evaluation. 相似文献
80.
Long-term effects of status epilepticus in the immature brain are specific for age and model 总被引:19,自引:0,他引:19
PURPOSE: Status epilepticus (SE) is more common in children than adults and has a high mortality and morbidity rate. SE in adult rats results in long-term disturbances in learning and memory, as well as an enhanced seizure susceptibility to further seizures. In contrast, a number of studies suggest that the immature brain is less vulnerable to the morphologic and physiologic alterations after SE. The goal of this study was to determine whether the long-term consequences of SE during development on hippocampal plasticity and cognitive function are age and model specific. METHODS: We used lithium-pilocarpine (Li-PC) to induce SE at different age points during development (P12, P16, P20) and evaluated the effects of this abnormal neural activity on spatial memory performance and seizure susceptibility in the animals beginning at P55, corresponding to young adulthood. RESULTS: We demonstrated that SE at P12 did not result in any structural or functional changes detectable in adulthood, whereas SE at both P16 and P20 induced cell loss and mossy fiber sprouting within the hippocampus and cognitive impairment when the animals were tested as adults. CONCLUSIONS: Whereas the seizure threshold to generalized seizures was not altered, animals with SE at P20 showed an increased susceptibility to kindling in adulthood. 相似文献