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Michal M. Andelman‐Gur Richard J Leventer Mohammad Hujirat Christos Ganos Keren Yosovich Nirit Carmi Dorit Lev Andreea Nissenkorn William B. Dobyns Kailash Bhatia Tally Lerman‐Sagie Lubov Blumkin 《American journal of medical genetics. Part A》2020,182(10):2207-2213
The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder. 相似文献
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Gur A Karakoc M Erdogan S Nas K Cevik R Sarac AJ 《Clinical and experimental rheumatology》2002,20(6):753-760
OBJECTIVE: To determine whether there is any difference in regional cerebral blood flow (rCBF) and serum cytokine levels and association between clinical parameters and rCBF and serum cytokine levels in young females with fibromyalgia (FM). The other aim was to search whether the depression state has any effect on these two parameters. METHODS: Nineteen women with FM and 20 healthy women had 99mTc-HMPAO brain single-photon-emission computed tomography (SPECT) to evaluate rCBF. Serum interleukin (IL) levels (IL 1 beta, IL 2r, IL 6 and IL 8) were measured. Clinical and psychological evaluation was also carried out in FM patients and healthy controls. RESULTS: The patients with FM had significantly higher radioactivity uptake ratio in right and left caudate nucleus (p = 0.009, p = 0.001, respectively) than healthy controls. There was statistically significant decrease in the 99mTc-HMPAO uptake in the right superior parietal (p = 0.041), gyrus rectalis (p = 0.036) and pons (p = 0.023). FM patients had significantly higher serum IL 2r and IL 8 levels (p = 0.023, p = 0.011, respectively) than controls. Additionally, FM patients had significantly higher Fibromyalgia Impact Questionnaire (FIQ), Health Assessment Questionnaire (HAQ), and Hamilton Depression Rate scale (HDRS) scores (p = 0.000) than controls. Interestingly, the patients with mild depressive symptoms or without (i.e. HDRS-score < or = 16) had significantly higher serum IL 8 levels (p = 0.027) and increased radioactivity uptake ratio in the pons (P = 0.036) than the patients with more severe depressive symptoms (i.e. HDRS-score > 16). With regard to regional cerebral blood flow, significant correlations were detected between RSP and morning stiffness (r = 0.70, p < 0.01) and sleep disturbance (r = -0.53, p < 0.05), and between gyrus rectalis and FIQ score. There were significant correlations between LCN and IL-2 (P = 0.025), between RSP and morning stiffness (P = 0.006), sleep disturbance (P = 0.021) according to multiple regression analysis test. CONCLUSION: This study shows a significant increase in rCBF of caudate nuclei, a reduction in the pons, some cortical regions activity and a increase in IL 8, IL2r levels of young female patients with FM. These findings are more prominent in patients with low HDRS scores. 相似文献
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Dimitrios Tziakas Georgios Chalikias Dimitrios Stakos Armagan Altun Nasir Sivri Ertan Yetkin Mustafa Gur Goran Stankovic Zlatko Mehmedbegovic Vassilis Voudris Sofia Chatzikyriakou Xavier Garcia-Moll Antonio Serra Ploumis Passadakis Elias Thodis Vassilis Vargemezis Juan Carlos Kaski Stavros Konstantinides 《The American journal of cardiology》2014
37.
Gregory Light Tiffany A. Greenwood Neal R. Swerdlow Monica E. Calkins Robert Freedman Michael F. Green Raquel E. Gur Ruben C. Gur Laura C. Lazzeroni Keith H. Nuechterlein Ann Olincy Allen D. Radant Larry J. Seidman Larry J. Siever Jeremy M. Silverman Joyce Sprock William S. Stone Catherine A. Sugar Debby W. Tsuang Ming T. Tsuang Bruce I. Turetsky David L. Braff 《Schizophrenia bulletin》2014,40(6):1404-1411
Background:
Twin and multiplex family studies have established significant heritability for schizophrenia (SZ), often summarized as 81%. The Consortium on the Genetics of Schizophrenia (COGS-1) family study was designed to deconstruct the genetic architecture of SZ using neurocognitive and neurophysiological endophenotypes, for which heritability estimates ranged from 18% to 50% (mean = 30%). This study assessed the heritability of SZ in these families to determine whether there is a “heritability gap” between the diagnosis and related endophenotypes.Methods:
Nuclear families (N = 296) with a SZ proband, an unaffected sibling, and both parents (n = 1366 subjects; mean family size = 4.6) underwent comprehensive endophenotype and clinical characterization. The Family Interview for Genetic Studies was administered to all participants and used to obtain convergent psychiatric symptom information for additional first-degree relatives of interviewed subjects (N = 3304 subjects; mean family size = 11.2). Heritability estimates of psychotic disorders were computed for both nuclear and extended families.Results:
The heritability of SZ was 31% and 44% for nuclear and extended families. The inclusion of bipolar disorder increased the heritability to 37% for the nuclear families. When major depression was added, heritability estimates dropped to 34% and 20% for nuclear and extended families, respectively.Conclusions:
Endophenotypes and psychotic disorders exhibit comparable levels of heritability in the COGS-1 family sample. The ascertainment of families with discordant sibpairs to increase endophenotypic contrast may underestimate diagnostic heritability relative to other studies. However, population-based studies also report significantly lower heritability estimates for SZ. Collectively, these findings support the importance of endophenotype-based strategies and the dimensional view of psychosis.Key words: schizophrenia, psychosis, endophenotypes, cognition, biomarkers, heritability 相似文献38.
Chakravarti A Gur R Berry N Mathur MD 《Diagnostic microbiology and infectious disease》2000,36(4):273-274
Seventy one acute phase serum samples collected during an epidemic of dengue hemorrhagic fever were tested by immunoblot, a rapid immunochromatographic assay and Dengue Duo ELISA for presence of anti dengue IgM and IgG antibodies. A concordance of 81.7% and 76.1% was seen between the three tests for the detection of anti-dengue IgM antibodies and IgG antibodies respectively. The rapid test takes only five minutes, can be easily carried out in most laboratories and compares well with the ELISA and the immunoblot. 相似文献
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Physiological differences between neurons in layer 2 and layer 3 of primary visual cortex (V1) of alert macaque monkeys 总被引:1,自引:0,他引:1
The physiological literature does not distinguish between the superficial layers 2 and 3 of the primary visual cortex even though these two layers differ in their cytoarchitecture and anatomical connections. To distinguish layer 2 from layer 3, we have analysed the response characteristics of neurons recorded during microelectrode penetrations perpendicular to the cortical surface. Extracellular responses of single neurons to sweeping bars were recorded while macaque monkeys performed a fixation task. Data were analysed from penetrations where cells could be localized to specific depths in the cortex. Although the most superficial cells (depth, 145–371 μm; presumably layer 2) responded preferentially to particular stimulus orientations, they were less selective than cells encountered immediately beneath them (depth, 386–696 μm; presumably layer 3). Layer 2 cells had smaller spikes, higher levels of ongoing activity, larger receptive field activating regions, and less finely tuned selectivity for stimulus orientation and length than layer 3 cells. Direction selectivity was found only in layer 3. These data suggest that layer 3 is involved in generating and transmitting precise, localized information about image features, while the lesser selectivity of layer 2 cells may participate in top-down influences from higher cortical areas, as well as modulatory influences from subcortical brain regions. 相似文献