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81.
Emily M. Bryant John J. Millichap Egidio Spinelli Jeffrey D. Calhoun Christopher Miller Jessica Giannelli Jacqueline Wolak Victoria Sanders Gemma L. Carvill Joel Charrow 《American journal of medical genetics. Part A》2020,182(6):1460-1465
Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis. 相似文献
82.
Dong Li Rebecca C. Ahrens‐Nicklas Janice Baker Vikas Bhambhani Amy Calhoun Julie S. Cohen Matthew A. Deardorff Alberto Fernández‐Jaén Benjamin Kamien Mahim Jain Fiona Mckenzie Mark Mintz Constance Motter Kirsten Niles Alyssa Ritter Curtis Rogers Maian Roifman Sharron Townshend Catherine Ward‐Melver Samantha A. Schrier Vergano 《American journal of medical genetics. Part A》2020,182(9):2058-2067
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Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation
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Shile Qi Rogers F. Silva Daoqiang Zhang Sergey M. Plis Robyn Miller Victor M. Vergara Rongtao Jiang Dongmei Zhi Jing Sui Vince D. Calhoun 《Human brain mapping》2022,43(4):1280
Advances in imaging acquisition techniques allow multiple imaging modalities to be collected from the same subject. Each individual modality offers limited yet unique views of the functional, structural, or dynamic temporal features of the brain. Multimodal fusion provides effective ways to leverage these complementary perspectives from multiple modalities. However, the majority of current multimodal fusion approaches involving functional magnetic resonance imaging (fMRI) are limited to 3D feature summaries that do not incorporate its rich temporal information. Thus, we propose a novel three‐way parallel group independent component analysis (pGICA) fusion method that incorporates the first‐level 4D fMRI data (temporal information included) by parallelizing group ICA into parallel ICA via a unified optimization framework. A new variability matrix was defined to capture subject‐wise functional variability and then link it to the mixing matrices of the other two modalities. Simulation results show that the three‐way pGICA provides highly accurate cross‐modality linkage estimation under both weakly and strongly correlated conditions, as well as comparable source estimation under different noise levels. Results using real brain imaging data identified one linked functional–structural–diffusion component associated to differences between schizophrenia and controls. This was replicated in an independent cohort, and the identified components were also correlated with major cognitive domains. Functional network connectivity revealed visual–subcortical and default mode‐cerebellum pairs that discriminate between schizophrenia and controls. Overall, both simulation and real data results support the use of three‐way pGICA to identify multimodal spatiotemporal links and to pursue the study of brain disorders under a single unifying multimodal framework. 相似文献
88.
Amy S. Badura-Brack Mackenzie S. Mills Christine M. Embury Maya M. Khanna Alicia Klanecky Earl Julia M. Stephen Yu-Ping Wang Vince D. Calhoun Tony W. Wilson 《Journal of psychiatry & neuroscience : JPN》2020,45(4):288
BackgroundChildhood trauma is reliably associated with smaller hippocampal volume in adults; however, this finding has not been shown in children, and even less is known about how sex and trauma interact to affect limbic structural development in children.MethodsTypically developing children aged 9 to 15 years who completed a trauma history questionnaire and structural T1-weighted MRI were included in this study (n = 172; 85 female, 87 male). All children who reported 4 or more traumas (n = 36) composed the high trauma group, and all children who reported 3 or fewer traumas (n = 136) composed the low trauma group. Using multivariate analysis of covariance, we compared FreeSurfer-derived structural MRI volumes (normalized by total intracranial volume) of the amygdalar, hippocampal and parahippocampal regions by sex and trauma level, controlling for age and study site.ResultsWe found a significant sex × trauma interaction, such that girls with high trauma had greater volumes than boys with high trauma. Follow-up analyses indicated significantly increased volumes for girls and generally decreased volumes for boys, specifically in the hippocampal and parahippocampal regions for the high trauma group; we observed no sex differences in the low trauma group. We noted no interaction effect for the amygdalae.LimitationsWe assessed a community sample and did not include a clinical sample. We did not collect data about the ages at which children experienced trauma.ConclusionResults revealed that psychological trauma affects brain development differently in girls and boys. These findings need to be followed longitudinally to elucidate how structural differences progress and contribute to well-known sex disparities in psychopathology. 相似文献
89.
Preventing Episodic Migraine With Caloric Vestibular Stimulation: A Randomized Controlled Trial
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David Wilkinson PhD Kristen K. Ade PhD Lesco L. Rogers MD Deborah K. Attix PhD Maragatha Kuchibhatla PhD Martin D. Slade MPH Lanty L. Smith LLB Kathryn P. Poynter RN Daniel T. Laskowitz MD Marshall C. Freeman MD Michael E. Hoffer MD Joel R. Saper MD Dianne L. Scott MD Mohamed Sakel MD Anne H. Calhoun MD Robert D. Black PhD 《Headache》2017,57(7):1065-1087
90.
Shile Qi Jing Sui Jiayu Chen Jingyu Liu Rongtao Jiang Rogers Silva Armin Iraji Eswar Damaraju Mustafa Salman Dongdong Lin Zening Fu Dongmei Zhi Jessica A. Turner Juan Bustillo Judith M. Ford Daniel H. Mathalon James Voyvodic Sarah McEwen Adrian Preda Aysenil Belger Steven G. Potkin Bryon A. Mueller Tulay Adali Vince D. Calhoun 《Human brain mapping》2019,40(13):3795-3809
There is growing evidence that rather than using a single brain imaging modality to study its association with physiological or symptomatic features, the field is paying more attention to fusion of multimodal information. However, most current multimodal fusion approaches that incorporate functional magnetic resonance imaging (fMRI) are restricted to second‐level 3D features, rather than the original 4D fMRI data. This trade‐off is that the valuable temporal information is not utilized during the fusion step. Here we are motivated to propose a novel approach called “parallel group ICA+ICA” that incorporates temporal fMRI information from group independent component analysis (GICA) into a parallel independent component analysis (ICA) framework, aiming to enable direct fusion of first‐level fMRI features with other modalities (e.g., structural MRI), which thus can detect linked functional network variability and structural covariations. Simulation results show that the proposed method yields accurate intermodality linkage detection regardless of whether it is strong or weak. When applied to real data, we identified one pair of significantly associated fMRI‐sMRI components that show group difference between schizophrenia and controls in both modalities, and this linkage can be replicated in an independent cohort. Finally, multiple cognitive domain scores can be predicted by the features identified in the linked component pair by our proposed method. We also show these multimodal brain features can predict multiple cognitive scores in an independent cohort. Overall, results demonstrate the ability of parallel GICA+ICA to estimate joint information from 4D and 3D data without discarding much of the available information up front, and the potential for using this approach to identify imaging biomarkers to study brain disorders. 相似文献