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behavioral variant

Joline Tung, Lih Shin Tew, Carmine Coluccini, Yue-Der Lin, Yit Lung Khung
Here, we described the outcome of thermal grafting of 2-ethynylaniline, 3-ethynylaniline and 4-ethynylaniline respectively on hydrogenated Si(100) surface. Using high resolution X-ray photoelectron spectroscopy (XPS) and atomic force microscopy (AFM), it was found that the grafting of these compounds could be attributed to resonating structures that arises from the position of electron donating NH2 and the electron withdrawing acetylene group. For the ortho- and para-positioned acetylene group, surface reactions were observed to proceed predominantly via the acetylene to form a Si-C bond while the meta-positioned acetylene group was found to have undergone nucleophilic grafting through the NH2 onto the silicon surface to form Si-N bond...
June 22, 2018: Chemistry: a European Journal
Seth Madlon-Kay, Michael J Montague, Lauren J N Brent, Samuel Ellis, Brian Zhong, Noah Snyder-Mackler, Julie E Horvath, Jesse Haynes Pate Skene, Michael L Platt
The neuropeptides oxytocin (OT) and arginine vasopressin (AVP) influence pair bonding, attachment, and sociality, as well as anxiety and stress responses in humans and other mammals. The effects of these peptides are mediated by genetic variability in their associated receptors, OXTR and the AVPR gene family. However, the role of these genes in regulating social behaviors in non-human primates is not well understood. To address this question, we examined whether genetic variation in the OT receptor gene OXTR and the AVP receptor genes AVPR1A and AVPR1B influence naturally-occurring social behavior in free-ranging rhesus macaques-gregarious primates that share many features of their biology and social behavior with humans...
June 21, 2018: American Journal of Primatology
Francisco Javier Queipo Gutiérrez, Ángel Panizo, Antonio Tienza, Irene Rodriguez, Jesús Javier Sola, Jordi Temprana-Salvador, Inés de Torres, Javier Pardo-Mindán
Pigmented microcystic chromophobe renal cell carcinoma (PMChRCC) is a recently described morphologic variant of ChRCC. We have identified 42 cases in 40 patients in the last 24 years. We have investigated their clinical, morphologic, immunohistochemical, and cytogenetic features. Chromosomal abnormalities of chromosomes 7 and 17 were evaluated by automated dual-color silver-enhanced in situ hybridization on paraffin-embedded tissue. Chromosomal imbalance was defined on the basis of changes in both chromosomal index and signal distribution...
June 21, 2018: Virchows Archiv: An International Journal of Pathology
Charles R Marshall, Christopher J D Hardy, Micah Allen, Lucy L Russell, Camilla N Clark, Rebecca L Bond, Katrina M Dick, Emilie V Brotherhood, Jonathan D Rohrer, James M Kilner, Jason D Warren
Objective: To establish proof-of-principle for the use of heart rate responses as objective measures of degraded emotional reactivity across the frontotemporal dementia spectrum, and to demonstrate specific relationships between cardiac autonomic responses and anatomical patterns of neurodegeneration. Methods: Thirty-two patients representing all major frontotemporal dementia syndromes and 19 healthy older controls performed an emotion recognition task, viewing dynamic, naturalistic videos of facial emotions while ECG was recorded...
June 2018: Annals of Clinical and Translational Neurology
Sara Vanegas, Diana Ramirez-Montaño, Estephania Candelo, Marwan Shinawi, Harry Pachajoa
Pathogenic variants in WAC are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic facial features, developmental delay, hyperactivity, and recurrent respiratory infections...
May 2018: Molecular Syndromology
Brian M Sweis, Mark J Thomas, A David Redish
Regret can be defined as the subjective experience of recognizing that one has made a mistake and that a better alternative could have been selected. The experience of regret is thought to carry negative utility. This typically takes two distinct forms: augmenting immediate postregret valuations to make up for losses, and augmenting long-term changes in decision-making strategies to avoid future instances of regret altogether. While the short-term changes in valuation have been studied in human psychology, economics, neuroscience, and even recently in nonhuman-primate and rodent neurophysiology, the latter long-term process has received far less attention, with no reports of regret avoidance in nonhuman decision-making paradigms...
June 2018: PLoS Biology
Almudena Pino-Angeles, Themis Lazaridis
Melittin is a short cationic peptide that exerts cytolytic effects on bacterial and eukaryotic cells. Experiments suggest that in zwitterionic membranes, melittin forms transmembrane toroidal pores supported by four to eight peptides. A recently constructed melittin variant with a reduced cationic charge, MelP5, is active at 10-fold lower concentrations. In previous work, we performed molecular dynamics simulations on the microsecond timescale to examine the supramolecular pore structure of a melittin tetramer in zwitterionic and partially anionic membranes...
June 19, 2018: Biophysical Journal
David Jakabek, Brian D Power, Matthew D Macfarlane, Mark Walterfang, Dennis Velakoulis, Danielle van Westen, Jimmy Lätt, Markus Nilsson, Jeffrey C L Looi, Alexander F Santillo
Behavioral variant frontotemporal dementia (bvFTD) has been predominantly considered as a frontotemporal cortical disease, with limited direct investigation of frontal-subcortical connections. We aim to characterize the grey and white matter components of frontal-thalamic and frontal-striatal circuits in bvFTD. Twenty-four patients with bvFTD and 24 healthy controls underwent morphological and diffusion imaging. Subcortical structures were manually segmented according to published protocols. Probabilistic pathways were reconstructed separately from the dorsolateral, orbitofrontal and medial prefrontal cortex to the striatum and thalamus...
June 20, 2018: Human Brain Mapping
D Quelhas, J Jaeken, A Fortuna, L Azevedo, A Bandeira, G Matthijs, E Martins
This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G >gt; A (p.G276D), c.73C >gt; T (p...
June 20, 2018: JIMD Reports
Gholamreza Jahanshahi, Elham Arzhang, Soheila Derisavy, Laleh Davoodi, Salman Shakeri
Ameloblastoma is a locally invasive tumor derived from odontogenic epithelium. An uncommon variant of ameloblastoma is granular cell type, which cannot distinguish from other ameloblastoma subtypes by clinical and radiographic findings alone. Only review of it's microscopic features allows distinction from other subtypes. The purpose of this article is to present a case of granular cell ameloblastoma. This subtype should be distinguished from the other histopathologic subtypes because of it's higher recurrence rate and more aggressive biological behavior...
May 2018: Dental Research Journal
Karen M Wassarman
6S RNA is a small RNA regulator of RNA polymerase (RNAP) that is present broadly throughout the bacterial kingdom. Initial functional studies in Escherichia coli revealed that 6S RNA forms a complex with RNAP resulting in regulation of transcription, and cells lacking 6S RNA have altered survival phenotypes. The last decade has focused on deepening the understanding of several aspects of 6S RNA activity, including (i) addressing questions of how broadly conserved 6S RNAs are in diverse organisms through continued identification and initial characterization of divergent 6S RNAs; (ii) the nature of the 6S RNA-RNAP interaction through examination of variant proteins and mutant RNAs, cross-linking approaches, and ultimately a cryo-electron microscopic structure; (iii) the physiological consequences of 6S RNA function through identification of the 6S RNA regulon and promoter features that determine 6S RNA sensitivity; and (iv) the mechanism and cellular impact of 6S RNA-directed synthesis of product RNAs (i...
May 2018: Microbiology Spectrum
Noriyuki Watanabe, Haruo Ohtani, Shuichi Mori, Masahiro Iguchi, Alexander Zaboronok, Noriaki Sakamoto, Masahide Matsuda, Eiichi Ishikawa, Akira Matsumura
Although liposarcomas are the most common soft tissue sarcomas, their intracranial variants are extremely rare. Here, we present a case of a primary intracranial myxoid liposarcoma in a 23-year-old Japanese man who presented with generalized seizures and a mass in the left frontal lobe. The tumor was totally removed, and histological analyses pointed to liposarcoma. Thirteen years after his initial treatment, the patient presented with right-side weakness and local recurrence of tumor was discovered. Histology from the second resection confirmed the diagnosis of myxoid liposarcoma...
June 19, 2018: Acta Neurochirurgica
Alice Y Hua, Isabel J Sible, David C Perry, Katherine P Rankin, Joel H Kramer, Bruce L Miller, Howard J Rosen, Virginia E Sturm
Behavioral variant frontotemporal dementia (bvFTD) is a neurodegenerative disease characterized by profound changes in emotions and empathy. Although most patients with bvFTD become less sensitive to negative emotional cues, some patients become more sensitive to positive emotional stimuli. We investigated whether dysregulated positive emotions in bvFTD undermine empathy by making it difficult for patients to share (emotional empathy), recognize (cognitive empathy), and respond (real-world empathy) to emotions in others...
2018: Frontiers in Neurology
Leslea J Hlusko
The past few years of genetic research on primate quantitative trait variation have been notable in the diversity of phenotypes explored, ranging from classic skeletal measurements to behavior, through to levels of gene expression, and with observations from both captive and wild populations. These studies demonstrate the importance of captive pedigreed breeding colonies, populations that can be matched to their wild counterparts to enable comparison of genetic architectures. Non-human primate genotype:phenotype maps are essential for placing human variation within an evolutionary framework as well as for gaining insight to human biology...
June 15, 2018: Current Opinion in Genetics & Development
Patrick Vizeli, Matthias E Liechti
Methylenedioxymethamphetamine (MDMA) increases oxytocin, empathy, and prosociality. Oxytocin plays a critical role in emotion processing and social behavior and has been shown to mediate the prosocial effects of MDMA in animals. Genetic variants, such as single-nucleotide polymorphisms (SNPs), of the oxytocin receptor (OXTR) may influence the emotional and social effects of MDMA in humans. The effects of common genetic variants of the OXTR (rs53576, rs1042778, and rs2254298 SNPs) on the emotional, empathogenic, and prosocial effects of MDMA were characterized in up to 132 healthy subjects in a pooled analysis of eight double-blind, placebo-controlled studies...
2018: PloS One
Gang Li, Mengyu Shen, Yuhui Yang, Shuai Le, Ming Li, Jing Wang, Yan Zhao, Yinling Tan, Fuquan Hu, Shuguang Lu
Adaptation of bacteria to phage predation poses a major obstacle for phage therapy. Bacteria adopt multiple mechanisms, such as inhibition of phage adsorption and CRISPR/Cas systems, to resist phage infection. Here, a phage-resistant mutant of Pseudomonas aeruginosa strain PA1 under the infection of lytic phage PaP1 was selected for further study. The PaP1-resistant variant, termed PA1RG, showed decreased adsorption to PaP1 and was devoid of long chain O -antigen on its cell envelope. Whole genome sequencing and comparative analysis revealed a single nucleotide mutation in the gene PA1S_08510, which encodes the O -antigen polymerase Wzy that is involved in lipopolysaccharide (LPS) biosynthesis...
2018: Frontiers in Microbiology
Joanna I Giza, Jihye Kim, Heidi C Meyer, Agustin Anastasia, Iva Dincheva, Crystal I Zheng, Katherine Lopez, Henrietta Bains, Jianmin Yang, Clay Bracken, Conor Liston, Deqiang Jing, Barbara L Hempstead, Francis S Lee
A human variant in the BDNF gene (Val66Met; rs6265) is associated with impaired fear extinction. Using super-resolution imaging, we demonstrate that the BDNF Met prodomain disassembles dendritic spines and eliminates synapses in hippocampal neurons. In vivo, ventral CA1 (vCA1) hippocampal neurons undergo similar morphological changes dependent on their transient co-expression of a SorCS2/p75NTR receptor complex during peri-adolescence. BDNF Met prodomain infusion into the vCA1 during this developmental time frame reduces dendritic spine density and prelimbic (PL) projections, impairing cued fear extinction...
June 2, 2018: Neuron
Flavio Di Stasio, Suppa Antonio, Fabbrini Andrea, Marsili Luca, Asci Francesco, Conte Antonella, Trebbastoni Alessandro, De Lena Carlo, Berardelli Alfredo
In frontotemporal dementia (FTD), the behavioral variant (bv-FTD) and nonfluent variant of primary progressive aphasia (nfv-PPA) reflect a prominent neurodegenerative involvement of the frontal lobe networks, which may include the premotor and motor areas and thus cause heterogeneous clinical symptoms including parkinsonism. With the technique of transcranial magnetic stimulation, we investigated long-term potentiation- and long-term depression-like plasticity in the primary motor cortex of bv-FTD and nfv-PPA patients, with and without parkinsonism, by using the theta-burst stimulation (TBS) protocol...
May 29, 2018: Neurobiology of Aging
Wendie N Marks, Madeline E Parker, Nadine K Zabder, Quentin Greba, Terrance P Snutch, John G Howland
The roles of low-voltage-activated (T-type) calcium channels in brain diseases have been studied extensively. Less is known regarding the involvement of T-type channels in cognition and behavior. Sensory integration (SI) is a cognitive process whereby the brain uses unimodal or multimodal sensory features to create a comprehensive representation of the environment. The multisensory object oddity (MSO) task assesses SI using combinations of sensory features of objects, either in the same or different sensory modalities...
July 2018: Learning & Memory
Azzam Hazim, Youssef Belhamadia, Stevan Dubljevic
Cardiac alternans is a disturbance in heart rhythm that is linked to the onset of lethal cardiac arrhythmias. Mechanical perturbation control has been recently used to suppress alternans in cardiac tissue of relevant size. In this control strategy, cardiac tissue mechanics are perturbed via active tension generated by the heart's electrical activity, which alters the tissue's electric wave profile through mechanoelectric coupling. We analyze the effects of mechanical perturbation on the dynamics of a map model that couples the membrane voltage and active tension systems at the cellular level...
May 2018: Physical Review. E
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