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801.
Data from two global studies (6-week open-label, phase 1 study; 20-day double-blind, phase 3 study) and their 1-year open-label extensions were pooled to assess long-term effects of adjunctive topiramate on adaptive behavior in infants with clinical or video-electroencephalographic evidence of refractory, partial-onset seizures. The primary safety and efficacy results of adjunctive topiramate treatment were reported previously. We report the changes in adaptive behavior of infants, based on Vineland Scales of Adaptive Behavior. Of 284 infants (mean [S.D.] age, 12 [6.3] months) enrolled, 89% (n = 252) manifested partial-onset seizures, and 41% (n = 116) manifested clinically relevant, symptomatic etiologies at pretreatment baseline. Overall, Vineland scores were below average at pretreatment baseline. The most frequently used concomitant antiepileptic drugs included valproic acid (59%), phenobarbital (31%), and carbamazepine (19%). The most common treatment-emergent cognitive and neuropsychiatric adverse events included anorexia (35%) and somnolence (27%). A clinically significant decline (approximately 15 points, or 1 S.D.) occurred in both Vineland Scales composite (mean change, -14.0) and domain standard scores from pretreatment baseline to open-label extension endpoint. However, individual domain raw scores increased, indicating that infants progressed in acquisitions of adaptive skill, but at a slower rate than the normative population. 相似文献
802.
Etheridge SP Bowles NE Arrington CB Pilcher T Rope A Wilde AA Alders M Saarel EV Tavernier R Timothy KW Tristani-Firouzi M 《American journal of medical genetics. Part A》2011,(10):2578-2583
Timothy syndrome type 1 (TS-1) is a rare disorder that affects multiple organ systems and has a high incidence of sudden death due to profound QT prolongation and resultant ventricular arrhythmias. All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C). Most patients reported in the literature represent highly affected individuals who present early in life with severe cardiac and neurological manifestations. Here, we describe somatic mosaicism in TS-1 patients with less severe manifestations than the typical TS-1 patient. These findings suggest that the TS prognosis may not be as dismal as previously reported. Moreover, our findings have implications for genetic counseling in that previously described de novo TS mutations may represent cases of parental mosaicism and warrant careful genotyping of parental tissue other than peripheral blood lymphocytes. 相似文献
803.
Opinion statement Once the correct diagnosis of migraine in a child is established, a treatment plan can be developed. This often entails a
combination of acute therapies, preventive therapies, and biobehavioral interventions. Goals of treatment should be clearly
established for the patients and parents, and realistic time courses discussed. Overall outcome in terms of disability and
quality of life also may need to be addressed and included within the evaluation and management scheme. 相似文献
804.
805.
Following prolonged mitotic spindle disruption by microtubule poisons, mammalian cells delay their entry into anaphase, then progressively slip out of mitosis and become tetraploid. Normal cells then stop cycling before S-phase onset, but the mechanisms underlying this arrest are still unclear. Here we show that a double block prevents endo-reduplication. First, cells that exit mitosis without a functional microtubule network are driven toward G0. Reconstitution of the network unmasks a second block that relies on DNA double-strand breaks occurring early in the G1 phase that follows the mitotic block. We propose that a stress signal elicited upon mitotic impairment triggers breakage, which couples the leaky spindle checkpoint to the stringent DNA damage response. Consistent with this finding, cells defective for the damage response continue cycling and acquire, within a single cell cycle, both chromosome rearrangements and abnormal chromosome numbers that remarkably mimic the complex genetic hallmark of tumorigenesis. 相似文献
806.
807.
Hope L. O’Brien Marielle A. Kabbouche Andrew D. Hershey 《Current treatment options in neurology》2010,12(3):178-185
The recognition of the diagnosis of migraine in the pediatric population is increasing. Early and aggressive treatment of migraine in children and adolescents with the use of over-the-counter medications has proven effective. In addition, the off-label use of many migraine-specific medications is often accepted in the absence of sufficient evidence-based trials. Mild to severe cases of migraine should be treated with NSAIDs, with triptans used for moderate to severe headaches that are unresponsive to over-the-counter therapy. Rescue medication including dihydroergotamine (DHE) should be used for intractable migraines, preferably in the hospital setting. In patients with associated symptoms of nausea and vomiting, antiemetics with antidopaminergic properties can be helpful through their action on central migraine generation. Furthermore, patients and families should be educated about nonpharmacologic aspects of management such as preventing episodic migraine through lifestyle modification and avoidance of triggers. 相似文献
808.
Emotional and behavioral problems in children and adolescents with and without intellectual disability 总被引:5,自引:0,他引:5
Dekker MC Koot HM van der Ende J Verhulst FC 《Journal of child psychology and psychiatry, and allied disciplines》2002,43(8):1087-1098
BACKGROUND: The main objective of this study was to assess and compare the prevalence of a wide range of emotional and behavioral problems in children with and without intellectual disability (ID). METHODS: We studied 1,041 non-residential children randomly selected from special schools for educable (IQ 60 to 80) and trainable (IQ 30 to 60) children without severe additional physical or sensory impairments, and compared them to 1,855 children randomly selected from the general population (both ages 6 to 18). Parents completed the Child Behavior Checklist (CBCL), and teachers the Teacher's Report Form (TRF). RESULTS: Controlling for sex, age, and socioeconomic status, we found that both educable and trainable children had significantly higher mean scores on all CBCL and TRF scales than children without ID, except for trainable children on the scales Anxious/Depressed and Somatic Complaints. Almost 50% of children with ID had a Total Problem score in the deviant range compared to about 18% in children without ID. Compared to children without ID, the most prominent problem behaviors of educable children were Social Problems, Attention Problems, and Aggressive Behavior, and trainable children had an increased risk for Social Problems, Attention Problems, Withdrawn and Thought Problems. CONCLUSIONS: Elevated scale scores reflected differences between children with and without ID over a broad range of items, and not solely on items more likely to be related to developmental delay. Therefore, problem areas covered by the items in these scales deserve special attention in the mental health care of children with ID. 相似文献
809.
Benoit Faucher Philippe Stein Brigitte Granel Pierre-Jean Weiller Patrick Disdier Jacques Serratrice Jean Robert Harlé Jean Marc Durand Yves Frances Sandrine Guis Thao Pham Nathalie Bardin Marielle Sanmarco 《European Journal of Internal Medicine》2010,21(2):114-117
BackgroundAnti-RNA polymerase III antibodies (anti-RNAP III) have been reported as potential immune markers of Systemic Sclerosis (SSc). Until now, their clinical use was disregarded because of technical difficulties to perform immunoprecipitation. Recently, ELISA kits became commercially available allowing an easy detection of anti-RNAP III. We intended to clarify the relevance of these antibodies in the diagnosis of SSc by ELISA detection.MethodsThe prevalence of anti-RNAP III was analyzed using two ELISA kits in 50 consecutive SSc patients from Marseilles in South of France. Controls included 66 patients with other systemic autoimmune diseases, 34 viral diseases and 50 healthy subjects. Positive results with at least one ELISA kit were controlled by immunoprecipitation which is the reference assay.ResultsIn this study, positivity for anti-centromere and/or anti-topoisomerase I antibodies was observed in 84% of SSc patients. The prevalence of anti-RNAP III in SSc patients was 0% to 6% (3/50) depending on the ELISA kit and only 2% by immunoprecipitation. Concerning controls, two rheumatoid arthritis patients were positive using ELISA (6%), including one with immunoprecipitation confirmation. No anti-RNAP III was detected in systemic lupus erythematosus patients. Three blood donors and one viral disease control were positive using ELISA, but all were negative by immunoprecipitation.ConclusionsAnti-RNAP III was rarely detected in a French population of SSc patients. Their prevalence was even lower than the one observed in rheumatoid arthritis controls. Therefore local immunologic profiles should be established before deciding a change in clinical practice for SSc immune screening. 相似文献
810.
Faez T Renaud G Defontaine M Calle S de Jong N 《Physics in medicine and biology》2011,56(19):6459-6473
In this paper, the influence of a dynamic variation in the ambient pressure on the subharmonic response of phospholipid-coated microbubbles was investigated. The ambient pressure in water was modulated by a 2.5 kHz acoustic wave with a peak amplitude of 15 kPa. We investigated the fundamental and subharmonic emissions at two driving frequencies: 5 and 10 MHz. The modulation of the bubble radius induced by the dynamic variation in the liquid ambient pressure subsequently causes modulations of the scattered acoustic pressure at the fundamental and subharmonic frequencies (half the fundamental frequency). As a first result, we measured that the variation in the ambient pressure of 15 kPa can modulate the subharmonic amplitude up to 10 dB as compared to the static atmospheric pressure condition. As a second result, we noticed that the relative subharmonic amplitude modulation as a function of the LF acoustic pressure was symmetrical for the 5 MHz driving frequency but asymmetric for 10 MHz. In the latter case, the subharmonic amplitude was more enhanced for an ambient overpressure than reduced for an ambient depression of the same amplitude likely due to the buckling of the lipid shell. However, the fundamental amplitude was symmetrically modulated during bubble compression and expansion. Moreover, subharmonic and fundamental amplitude modulations were found to be either in phase or out of phase with the low-frequency acoustic pressure. Numerical simulations showed that this behavior can be obtained depending on the bubbles' diameter. The highest subharmonic amplitude was measured when microbubbles were insonified at 10 MHz. This fact together with the asymmetry observed in the subharmonic modulation suggests that smaller bubbles with a buckling shell are excited at 10 MHz compared to 5 MHz. These results present new potentials for in vitro characterization of contrast agent microbubbles and possibly a new imaging modality. 相似文献