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Carl M. Gay C. Allison Stewart Elizabeth M. Park Lixia Diao Sarah M. Groves Simon Heeke Barzin Y. Nabet Junya Fujimoto Luisa M. Solis Wei Lu Yuanxin Xi Robert J. Cardnell Qi Wang Giulia Fabbri Kasey R. Cargill Natalie I. Vokes Kavya Ramkumar Bingnan Zhang Lauren Averett Byers 《Cancer cell》2021,39(3):346-360.e7
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A 39-year-old healthy woman presented for decreased vision at distance and near for 4 years. She also noted a decrease in her color vision. Her best-corrected visual acuities were 20/70 in each eye. Her visual fields were abnormal, and she had bilateral sluggish pupils, impaired color vision, and optic disc pallor. The magnetic resonance imaging of the brain, heavy metal screen, autoimmune work-up, B12, B6, folate, erythrocyte sedimentation rate, rapid plasma reagin, and Lyme titer were all normal. Optical coherence tomography of the macula and electroretinogram were normal; the visual evoked potential was unrecordable in both eyes. She denied a family history of similar ocular issues, and genotyping of the OPA1 gene revealed a novel previously unreported mutation at IVS12+10T >C. 相似文献
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Cervical Lymphadenopathy has a large list of differential diagnosis. In India, Tuberculosis and Malignant Neoplasms are the most common specific causes for cervical lymph node enlargement. Kikuchi–Fujimoto Disease (KFD), is an uncommon but increasingly reported cause, especially in Asia. Awareness of this condition amongst physicians leads to an accurate diagnosis without the need for expensive and often potentially harmful investigations. The disease is self limiting and responds well to symptomatic treatment. 相似文献
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Athena Hadjixenofontos Michael A. Schmidt Patrice L. Whitehead Ioanna Konidari Dale J. Hedges Harry H. Wright Ruth K. Abramson Ramkumar Menon Scott M. Williams Michael L. Cuccaro Jonathan L. Haines John R. Gilbert Margaret A. Pericak‐Vance Eden R. Martin Jacob L. McCauley 《Annals of human genetics》2013,77(1):9-21
Despite the increasing speculation that oxidative stress and abnormal energy metabolism may play a role in Autism Spectrum Disorders (ASD), and the observation that patients with mitochondrial defects have symptoms consistent with ASD, there are no comprehensive published studies examining the role of mitochondrial variation in autism. Therefore, we have sought to comprehensively examine the role of mitochondrial DNA (mtDNA) variation with regard to ASD risk, employing a multi‐phase approach. In phase 1 of our experiment, we examined 132 mtDNA single‐nucleotide polymorphisms (SNPs) genotyped as part of our genome‐wide association studies of ASD. In phase 2 we genotyped the major European mitochondrial haplogroup‐defining variants within an expanded set of autism probands and controls. Finally in phase 3, we resequenced the entire mtDNA in a subset of our Caucasian samples (~400 proband‐father pairs). In each phase we tested whether mitochondrial variation showed evidence of association to ASD. Despite a thorough interrogation of mtDNA variation, we found no evidence to suggest a major role for mtDNA variation in ASD susceptibility. Accordingly, while there may be attractive biological hints suggesting the role of mitochondria in ASD our data indicate that mtDNA variation is not a major contributing factor to the development of ASD. 相似文献
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Truncated octahedral gold (Au) nanoparticles (NPs), Au nanocubes (NCs)-, and silver (Ag) NCs are used to study the effect of NPs shape, material and incorporation location on the performance of poly(3-hexylthiophene):[6,6]-phenyl-C71-butyric acid methyl ester (P3HT:PC71BM) based inverted bulk heterojunction (BHJ) organic solar cells (OSCs). Plasmonic OSCs (POSCs) with NPs incorporated as an interfacial layer between zinc oxide (ZnO) and active layer showed highest power conversion efficiency (PCE) and short circuit current density (Jsc) values for all kind of shapes and material compared to POSCs with NPs blended into the active layer. Near-field enhancement as well as enhanced forward scattering cross section is attributed for POSC performance improvement. Among the NPs with two shapes, POSCs with truncated octahedral Au NPs exceeded the photovoltaic performance compared to those of POSCs with Au and Ag NCs. Large number of antennas in truncated octahedral Au NPs compared to NC is reasoned to be the cause for this improvement. Even though Ag has better localised surface plasmon resoanance (LSPR) properties compared to Au, the POSCs with Ag NCs showed lower Jsc value and is due to reduced number of photons at the blue shifted LSPR wavelength of Ag NCs. The improvement in Jsc values of POSCs is confirmed by enhancement in absorption, external quantum efficiency (EQE), exciton generation and exciton dissociation probability measurements and is due to improved LSPR coupling of the NPs with the active layer. The surface enhanced Raman scattering (SERS) and photoluminescence (PL) studies confirm the absorption enhancement in the active layer by NP LSPR coupling and further confirm the enhancement in the photovoltaic performance of POSCs.Enhanced performance in organic solar cells by incorporating non-spherical metal nanoparticles. 相似文献