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Age-related Pattern (age-related + pattern)
Selected AbstractsAngelman Syndrome: Difficulties in EEG Pattern Recognition and Possible MisinterpretationsEPILEPSIA, Issue 8 2003Kette D. Valente Summary: Purpose: This study aimed to evaluate the sensitivity of the EEG in Angelman syndrome (AS), to verify the age at onset of suggestive EEGs and to study EEG patterns, analyzing variations and comparing our findings with nomenclature previously used. Methods: Seventy EEG and 15 V-EEGs of 26 patients were analyzed. Suggestive EEG patterns of AS were classified in delta pattern (DP), theta pattern (TP), and posterior discharges (PDs). Generic terms were used to simplify the analysis. Results: Suggestive EEGs were observed in 25 (96.2%) patients. DP occurred in 22 patients with four variants,hypsarrhythmic-like: irregular, high-amplitude, generalized delta activity (DA) with multifocal epileptiform discharges (EDs); slow variant: regular, high-amplitude, generalized DA with rare EDs; ill-defined slow spike-and-wave: regular, high-amplitude, generalized DA with superimposed EDs characterizing a slow wave, with notched appearance; triphasic-like: rhythmic, moderate-amplitude DA over anterior regions with superimposed EDs. TP was observed in eight patients, as generalized or over the posterior regions. PDs were seen in 19 patients as runs of sharp waves or runs of high-amplitude slow waves with superimposed EDs. TP was the only age-related pattern (younger than 8 years) and observed only in patients with deletion. In 15 patients who had an EEG before the clinical diagnosis, 60% had a suggestive tracing. Conclusions: Although some EEG descriptions are not very detailed, and every author describes findings in a slightly different manner, obviously a common denominator must exist. In this context, EEG seems to be a very sensitive method for the diagnosis of AS, offering an opportunity to corroborate this etiologic diagnosis. Conversely, we do not believe that these patterns may be accounted as specific, except for the delta pattern, which seems to be extremely unusual in other syndromes. Other EEG patterns observed in AS, such as theta activity and PDs, occur in a wide variety of disorders. Nonetheless, their importance for the EEG diagnosis of AS is supported by the fact that they are associated with other features and may be helpful in a proper clinical setting. [source] Genetics of dermatofibrosarcoma protuberans family of tumors: From ring chromosomes to tyrosine kinase inhibitor treatmentGENES, CHROMOSOMES AND CANCER, Issue 1 2003Nicolas Sirvent Dermatofibrosarcoma protuberans (DP) is a rare, slow-growing, infiltrating dermal neoplasm of intermediate malignancy, made up of spindle-shaped tumor cells often positive for CD34. The preferred treatment is wide surgical excision with pathologically negative margins. At the cytogenetic level, DP cells are characterized by either supernumerary ring chromosomes, which have been shown by using fluorescence in situ hybridization techniques to be derived from chromosome 22 and to contain low-level amplified sequences from 17q22-qter and 22q10,q13.1, or t(17;22), that are most often unbalanced. Both the rings and linear der(22) contain a specific fusion of COL1A1 with PDGFB. Similar to other tumors, the COL1A1-PDGFB fusion is occasionally cryptic, associated with complex chromosomal rearrangements. Although rings have been mainly observed in adults, translocations have been reported in all pediatric cases. DP is therefore a unique example of a tumor in which (i) the same molecular event occurs either on rings or linear translocation derivatives, (ii) the chromosomal abnormalities display an age-related pattern, and (iii) the presence of the specific fusion gene is associated with the gain of chromosomal segments, probably taking advantage of gene dosage effects. In all DP cases that underwent molecular investigations, the breakpoint localization in PDGFB was found to be remarkably constant, placing exon 2 under the control of the COL1A1 promoter. In contrast, the COL1A1 breakpoint was found to be variably located within the exons of the ,-helical coding region (exons 6,49). No preferential COL1A1 breakpoint and no correlation between the breakpoint location and the age of the patient or any clinical or histological particularity have been described. The COL1A1-PDGFB fusion is detectable by multiplex RT-PCR with a combination of forward primers designed from a variety of COL1A1 exons and one reverse primer from PDGFB exon 2. Recent studies have determined the molecular identity of "classical" DP, giant cell fibroblastoma, Bednar tumor, adult superficial fibrosarcoma, and the granular cell variant of DP. In approximately 8% of DP cases, the COL1A1-PDGFB fusion is not found, suggesting that genes other than COL1A1 or PDGFB might be involved in a subset of cases. It has been proposed that PDGFB acts as a mitogen in DP cells by autocrine stimulation of the PDGF receptor. It is encouraging that inhibitory effects of the PDGF receptor tyrosine kinase antagonist imatinib mesylate have been demonstrated in vivo; such targeted therapies might be warranted in the near future for treatment of the few DP cases not manageable by surgery. © 2003 Wiley-Liss, Inc. [source] Age- and sex-related patterns of serum interferon-, activity in lupus familiesARTHRITIS & RHEUMATISM, Issue 7 2008Timothy B. Niewold Objective Interferon-, (IFN,) levels are elevated in many patients with systemic lupus erythematosus (SLE) and may play a primary role in its pathogenesis. The purpose of this study was to determine whether serum IFN, activity in SLE patients and their healthy first-degree relatives is highest in early adulthood, when the incidence of SLE is greatest. Methods Serum samples from 315 SLE patients, 359 healthy first-degree relatives, and 141 healthy unrelated donors were measured for IFN, activity using a functional reporter cell assay. IFN, activity was analyzed in relation to age, and subgroups with high levels of IFN, activity were identified within the large data sets using a Mann-Whitney sliding window segmentation algorithm. The significance of each subgrouping was ranked by Kruskal-Wallis testing. Results Age was inversely correlated with IFN, activity in female SLE patients (r = ,0.20, P = 0.001) as well as their healthy female first-degree relatives (r = ,0.16, P = 0.02). In male patients and their healthy male first-degree relatives, there was no significant overall correlation between age and serum IFN, activity. The segmentation algorithm revealed significantly increased IFN, activity between the ages of 12 and 22 years in female SLE patients and between the ages of 16 and 29 years in male SLE patients. Both male and female healthy first-degree relatives had significantly decreased IFN, activity after the age of 50 years. Conclusion Serum IFN, activity is higher in younger individuals in the SLE family cohorts, and this tendency is accentuated in affected individuals. This age-related pattern of IFN, activity may contribute to the increased incidence of SLE in early adulthood, and interestingly, males and females had similar age-related patterns of IFN, activity. [source] Age- and subcaste-related patterns of serotonergic immunoreactivity in the optic lobes of the ant Pheidole dentataDEVELOPMENTAL NEUROBIOLOGY, Issue 11 2008Marc A. Seid Abstract Serotonin, a biogenic amine known to be a neuromodulator of insect behavior, has recently been associated with age-related patterns of task performance in the ant Pheidole dentata. We identified worker age- and subcaste-related patterns of serotonergic activity within the optic lobes of the P. dentata brain to further examine its relationship to polyethism. We found strong immunoreactivity in the optic lobes of the brains of both minor and major workers. Serotonergic cell bodies in the optic lobes increased significantly in number as major and minor workers matured. Old major workers had greater numbers of serotonergic cell bodies than minors of a similar age. This age-related increase in serotonergic immunoreactivity, as well as the presence of diffuse serotonin networks in the mushroom bodies, antennal lobes, and central complex, occurs concomitantly with an increase in the size of worker task repertoires. Our results suggest that serotonin is associated with the development of the visual system, enabling the detection of task-related stimuli outside the nest, thus playing a significant role in worker behavioral development and colony-wide division of labor. © 2008 Wiley Periodicals, Inc. Develop Neurobiol, 2008. [source] Ecological Associations of Alcohol Outlets With Underage and Young Adult InjuriesALCOHOLISM, Issue 3 2010Paul J. Gruenewald Objective:, This paper argues that associations between rates of 3 specific problems related to alcohol (i.e., accidents, traffic crashes, and assaults) should be differentially related to densities of alcohol outlets among underage youth and young adults based upon age-related patterns of alcohol outlet use. Methods:, Zip code-level population models assessed local and distal effects of alcohol outlets upon rates of hospital discharges for these outcomes. Results:, Densities of off-premise alcohol outlets were significantly related to injuries from accidents, assaults, and traffic crashes for both underage youth and young adults. Densities of bars were associated with more assaults and densities of restaurants were associated with more traffic crash injuries for young adults. Conclusions:, The distribution of alcohol-related injuries relative to alcohol outlets reflect patterns of alcohol outlet use. [source] Age- and sex-related patterns of serum interferon-, activity in lupus familiesARTHRITIS & RHEUMATISM, Issue 7 2008Timothy B. Niewold Objective Interferon-, (IFN,) levels are elevated in many patients with systemic lupus erythematosus (SLE) and may play a primary role in its pathogenesis. The purpose of this study was to determine whether serum IFN, activity in SLE patients and their healthy first-degree relatives is highest in early adulthood, when the incidence of SLE is greatest. Methods Serum samples from 315 SLE patients, 359 healthy first-degree relatives, and 141 healthy unrelated donors were measured for IFN, activity using a functional reporter cell assay. IFN, activity was analyzed in relation to age, and subgroups with high levels of IFN, activity were identified within the large data sets using a Mann-Whitney sliding window segmentation algorithm. The significance of each subgrouping was ranked by Kruskal-Wallis testing. Results Age was inversely correlated with IFN, activity in female SLE patients (r = ,0.20, P = 0.001) as well as their healthy female first-degree relatives (r = ,0.16, P = 0.02). In male patients and their healthy male first-degree relatives, there was no significant overall correlation between age and serum IFN, activity. The segmentation algorithm revealed significantly increased IFN, activity between the ages of 12 and 22 years in female SLE patients and between the ages of 16 and 29 years in male SLE patients. Both male and female healthy first-degree relatives had significantly decreased IFN, activity after the age of 50 years. Conclusion Serum IFN, activity is higher in younger individuals in the SLE family cohorts, and this tendency is accentuated in affected individuals. This age-related pattern of IFN, activity may contribute to the increased incidence of SLE in early adulthood, and interestingly, males and females had similar age-related patterns of IFN, activity. [source] |