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https://www.readbyqxmd.com/read/28533516/asd-restricted-and-repetitive-behaviors-associated-at-17q21-33-genes-prioritized-by-expression-in-fetal-brains
#1
R M Cantor, L Navarro, H Won, R L Walker, J K Lowe, D H Geschwind
Autism spectrum disorder (ASD) is a behaviorally defined condition that manifests in infancy or early childhood as deficits in communication skills and social interactions. Often, restricted and repetitive behaviors (RRBs) accompany this disorder. ASD is polygenic and genetically complex, so we hypothesized that focusing analyses on intermediate core component phenotypes, such as RRBs, can reduce genetic heterogeneity and improve statistical power. Applying this approach, we mined Caucasian genome-wide association studies (GWAS) data from two of the largest ASD family cohorts, the Autism Genetics Resource Exchange and Autism Genome Project (AGP)...
May 23, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#2
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28525481/comparison-of-the-clinical-and-radiographic-results-between-cervical-artificial-disk-replacement-and-anterior-cervical-fusion-a-6-year-prospective-nonrandomized-comparative-study
#3
Wei Tian, Kai Yan, Xiao Han, Jie Yu, Peihao Jin, Xiaoguang Han
STUDY DESIGN: Prospective nonrandomized comparative study. OBJECTIVE: To compare the long-term clinical and radiographic results of cervical artificial disk replacement (CADR) and anterior cervical discectomy and fusion (ACDF), and to provide our evidence if CADR could reduce adjacent segment degeneration (ASD). SUMMARY OF BACKGROUND DATA: CADR is widely used in spine surgery today. Despite the short-term results of it having been ascertained, the long-term results are still under observation...
June 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28520841/chronic-inflammatory-pain-impairs-mglur5-mediated-depolarization-induced-suppression-of-excitation-in-the-anterior-cingulate-cortex
#4
Baolin Guo, Jiaqi Wang, Han Yao, Keke Ren, Jing Chen, Jing Yang, Guohong Cai, Haiying Liu, Yunlong Fan, Wenting Wang, Shengxi Wu
The anterior cingulate cortex (ACC) is a critical hub for nociceptive perception and pain-related anxiety. Long-term synaptic plasticity in ACC was found to be important for chronic inflammatory pain and pain-related anxiety. As short-term synaptic plasticity, depolarization-induced suppression of excitation (DSE) is involved in several conditions, such as chronic stress, epilepsy, and autism. However, it is still unknown whether DSE in the ACC is involved in the central sensitization of pain and anxiety. Using a whole-cell patch clamp, calcium imaging, western blot, and behavioral testing, we found that DSE was induced by a 2 s depolarization in postsynaptic pyramidal cells in ACC...
May 17, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28513186/initially-intact-neural-responses-to-pain-in-autism-are-diminished-during-sustained-pain
#5
Michelle D Failla, Estephan J Moana-Filho, Greg K Essick, Grace T Baranek, Baxter P Rogers, Carissa J Cascio
Pain assessments typically depend on self-report of the pain experience. Yet, in individuals with autism spectrum disorders, this can be an unreliable due to communication difficulties. Importantly, observations of behavioral hypo- and hyperresponsivity to pain suggest altered pain sensitivity in autism spectrum disorder. Neuroimaging may provide insight into mechanisms underlying pain behaviors. The neural pain signature reliably responds to painful stimulation and is modulated by other outside regions, affecting the pain experience...
May 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28506079/the-neural-correlates-of-emotional-lability-in-children-with-asd
#6
Randi Bennett, Krishna Somandapalli, Adriana Di Martino, Amy Roy
OBJECTIVE: Autism spectrum disorder (ASD) is exceptionally heterogeneous in both clinical and physiopathological presentations. Clinical variability applies to ASD-specific symptoms as well as frequent comorbid psychopathology such as emotional lability (EL). To date, the physiopathological underpinnings of the co-occurrence of EL and ASD are unknown. As a first step, we examined within-ASD inter-individual variability of EL and its neuronal correlates using resting-state fMRI (R-fMRI)...
May 15, 2017: Brain Connectivity
https://www.readbyqxmd.com/read/28503904/white-matter-compromise-in-autism-differentiating-motion-confounds-from-true-differences-in-diffusion-tensor-imaging
#7
Seraphina K Solders, Ruth A Carper, Ralph-Axel Müller
Common findings from diffusion tensor imaging (DTI) in autism spectrum disorder (ASD) include reduced fractional anisotropy (FA), and increased mean and radial diffusivity (MD, RD) of white matter tracts. However, findings may be confounded by head motion. We examined how group-level motion matching affects DTI comparisons between ASD and typically developing (TD) groups. We included 57 ASD and 50 TD participants, comparing three subsets at increasing levels of motion-matching stringency: full sample (FS); quality-controlled (QC); and quantitatively-matched (QM)...
May 15, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28499438/early-developed-asd-adjacent-segmental-disease-in-patients-after-surgical-treatment-of-the-spine-due-to-cancer-metastases
#8
Grzegorz Guzik
BACKGROUND: The causes of ASD are still relatively unknown. Correlation between clinical status of patients and radiological MRI findings is of primary importance. The radiological classifications proposed by Pfirmann and Oner are most commonly used to assess intradiscal degenerative changes. The aim of the study was to assess the influence of the extension of spine fixation on the risk of developing ASD in a short time after surgery. METHODS: A total of 332 patients with spinal tumors were treated in our hospital between 2010 and 2013...
May 12, 2017: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/28479531/-structural-brain-development-in-healthy-children-and-adolescents
#9
Izumi Matsudaira, Ryuta Kawashima, Yasuyuki Taki
Brain maturation progresses throughout childhood into adolescence. Investigating the mechanism of brain development during these periods in healthy people is necessary for some clinical purposes. For example, these mechanisms are needed to investigate the mechanism of impaired brain maturation in neurodevelopmental disorders-such as autism spectrum disorders or attention-deficit hyper disorder-and improve early prevention of psychiatric or neurodegenerative diseases like depression or Alzheimer's disease. Voxel-based morphometry (VBM) is an effective way to analyze brain magnetic resonance images (MRI) of children and adolescents, as the brain structures of children and adolescents vary widely depending on their age, sex, and several other factors...
May 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28479476/high-resolution-magnetic-resonance-imaging-reveals-nuclei-of-the-human-amygdala-manual-segmentation-to-automatic-atlas
#10
Z M Saygin, D Kliemann, J E Iglesias, A J W van der Kouwe, E Boyd, M Reuter, A Stevens, K Van Leemput, A McKee, M P Frosch, B Fischl, J C Augustinack
The amygdala is composed of multiple nuclei with unique functions and connections in the limbic system and to the rest of the brain. However, standard in vivo neuroimaging tools to automatically delineate the amygdala into its multiple nuclei are still rare. By scanning postmortem specimens at high resolution (100-150µm) at 7T field strength (n = 10), we were able to visualize and label nine amygdala nuclei (anterior amygdaloid, cortico-amygdaloid transition area; basal, lateral, accessory basal, central, cortical medial, paralaminar nuclei)...
May 4, 2017: NeuroImage
https://www.readbyqxmd.com/read/28479324/theta-oscillations-during-active-sleep-synchronize-the-developing-rubro-hippocampal-sensorimotor-network
#11
Carlos Del Rio-Bermudez, Jangjin Kim, Greta Sokoloff, Mark S Blumberg
Neuronal oscillations comprise a fundamental mechanism by which distant neural structures establish and express functional connectivity. Long-range functional connectivity between the hippocampus and other forebrain structures is enabled by theta oscillations. Here, we show for the first time that the infant rat red nucleus (RN)-a brainstem sensorimotor structure-exhibits theta (4-7 Hz) oscillations restricted primarily to periods of active (REM) sleep. At postnatal day 8 (P8), theta is expressed as brief bursts immediately following myoclonic twitches; by P12, theta oscillations are expressed continuously across bouts of active sleep...
May 22, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28470431/radiogenomics-of-lower-grade-glioma-algorithmically-assessed-tumor-shape-is-associated-with-tumor-genomic-subtypes-and-patient-outcomes-in-a-multi-institutional-study-with-the-cancer-genome-atlas-data
#12
Maciej A Mazurowski, Kal Clark, Nicholas M Czarnek, Parisa Shamsesfandabadi, Katherine B Peters, Ashirbani Saha
Recent studies identified distinct genomic subtypes of lower-grade gliomas that could potentially be used to guide patient treatment. This study aims to determine whether there is an association between genomics of lower-grade glioma tumors and patient outcomes using algorithmic measurements of tumor shape in magnetic resonance imaging (MRI). We analyzed preoperative imaging and genomic subtype data from 110 patients with lower-grade gliomas (WHO grade II and III) from The Cancer Genome Atlas. Computer algorithms were applied to analyze the imaging data and provided five quantitative measurements of tumor shape in two and three dimensions...
May 3, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28460842/the-emergence-of-network-inefficiencies-in-infants-with-autism-spectrum-disorder
#13
John D Lewis, Alan C Evans, John R Pruett, Kelly N Botteron, Robert C McKinstry, Lonnie Zwaigenbaum, Annette Estes, D Louis Collins, Penelope Kostopoulos, Guido Gerig, Stephen Dager, Sarah Paterson, Robert T Schultz, Martin Styner, Heather Hazlett, Joseph Piven
BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral features that emerge during the first years of life. Research indicates that abnormalities in brain connectivity are associated with these behavioral features. However, the inclusion of individuals past the age of onset of the defining behaviors complicates interpretation of the observed abnormalities: they may be cascade effects of earlier neuropathology and behavioral abnormalities. Our recent study of network efficiency in a cohort of 24-month-olds at high and low familial risk for ASD reduced this confound; we reported reduced network efficiencies in toddlers classified with ASD...
March 16, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28455777/insights-into-nano-and-micron-scale-phase-separation-in-amorphous-solid-dispersions-using-fluorescence-based-techniques-in-combination-with-solid-state-nuclear-magnetic-resonance-spectroscopy
#14
Hitesh S Purohit, James D Ormes, Sugandha Saboo, Yongchao Su, Matthew S Lamm, Amanda K P Mann, Lynne S Taylor
PURPOSE: Miscibility between the drug and the polymer in an amorphous solid dispersion (ASD) is considered to be one of the most important factors impacting the solid state stability and dissolution performance of the active pharmaceutical ingredient (API). The research described herein utilizes emerging fluorescence-based methodologies to probe (im)miscibility of itraconazole (ITZ)-hydroxypropyl methylcellulose (HPMC) ASDs. METHODS: The ASDs were prepared by solvent evaporation with varying evaporation rates and were characterized by steady-state fluorescence spectroscopy, confocal imaging, differential scanning calorimetry (DSC), and solid state nuclear magnetic resonance (ssNMR) spectroscopy...
April 28, 2017: Pharmaceutical Research
https://www.readbyqxmd.com/read/28452230/comparing-book-and-tablet-based-picture-activity-schedules-acquisition-and-preference
#15
Aimee Giles, Victoria Markham
Picture activity schedules consist of a sequence of images representing the order of tasks for a person to complete. Although, picture activity schedules have traditionally been presented in a book format, recently picture activity schedules have been evaluated on technological devices such as an iPod™ touch. The present study compared the efficiency of picture activity schedule acquisition on book- and tablet-based modalities. In addition, participant preference for each modality was assessed. Three boys aged below 5 years with a diagnosis of autism participated...
April 1, 2017: Behavior Modification
https://www.readbyqxmd.com/read/28452081/heightened-brain-response-to-pain-anticipation-in-high-functioning-adults-with-autism-spectrum-disorder
#16
Xiaosi Gu, Thomas J Zhou, Evdokia Anagnostou, Latha Soorya, Alexander Kolevzon, Patrick R Hof, Jin Fan
Autism spectrum disorder (ASD) is marked by both socio-communicative difficulties and abnormalities in sensory processing. Much of the work on sensory deficits in ASD has focused on tactile sensations and the perceptual aspects of somatosensation, such as encoding of stimulus intensity and location. Although aberrant pain processing has often been noted in clinical observations of patients with ASD, it remains largely uninvestigated. Importantly, the neural mechanism underlying higher-order cognitive aspects of pain processing such as pain anticipation also remains unknown...
April 27, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28439973/intracardiac-versus-transesophageal-echocardiography-to-guide-transcatheter-closure-of-interatrial-communications-nationwide-trend-and-comparative-analysis
#17
Fahad Alqahtani, Ashwin Bhirud, Sami Aljohani, James Mills, Akram Kawsara, Ashok Runkana, Mohamad Alkhouli
OBJECTIVES: This study aimed to assess current temporal trends in utilization of ICE versus TEE guided closure of interatrial communications, and to compare periprocedural complications and resource utilization between the two imaging modalities. BACKGROUND: While transesophageal echocardiography (TEE) has historically been used to guide percutaneous structural heart interventions, intracardiac echocardiography (ICE) is being increasingly utilized to guide many of these procedures such as closure of interatrial communications...
April 25, 2017: Journal of Interventional Cardiology
https://www.readbyqxmd.com/read/28436342/comparison-of-neural-substrates-of-temporal-discounting-between-youth-with-autism-spectrum-disorder-and-with-obsessive-compulsive-disorder
#18
C O Carlisi, L Norman, C M Murphy, A Christakou, K Chantiluke, V Giampietro, A Simmons, M Brammer, D G Murphy, D Mataix-Cols, K Rubia
BACKGROUND: Autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) share abnormalities in hot executive functions such as reward-based decision-making, as measured in the temporal discounting task (TD). No studies, however, have directly compared these disorders to investigate common/distinct neural profiles underlying such abnormalities. We wanted to test whether reward-based decision-making is a shared transdiagnostic feature of both disorders with similar neurofunctional substrates or whether it is a shared phenotype with disorder-differential neurofunctional underpinnings...
April 24, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28434615/searching-for-cross-diagnostic-convergence-neural-mechanisms-governing-excitation-and-inhibition-balance-in-schizophrenia-and-autism-spectrum-disorders
#19
REVIEW
Jennifer H Foss-Feig, Brendan D Adkinson, Jie Lisa Ji, Genevieve Yang, Vinod H Srihari, James C McPartland, John H Krystal, John D Murray, Alan Anticevic
Recent theoretical accounts have proposed excitation and inhibition (E/I) imbalance as a possible mechanistic, network-level hypothesis underlying neural and behavioral dysfunction across neurodevelopmental disorders, particularly autism spectrum disorder (ASD) and schizophrenia (SCZ). These two disorders share some overlap in their clinical presentation as well as convergence in their underlying genes and neurobiology. However, there are also clear points of dissociation in terms of phenotypes and putatively affected neural circuitry...
May 15, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28429189/using-time-perception-to-explore-implicit-sensitivity-to-emotional-stimuli-in-autism-spectrum-disorder
#20
Catherine R G Jones, Anna Lambrechts, Sebastian B Gaigg
Establishing whether implicit responses to emotional cues are intact in autism spectrum disorder (ASD) is fundamental to ascertaining why their emotional understanding is compromised. We used a temporal bisection task to assess for responsiveness to face and wildlife images that varied in emotional salience. There were no significant differences between an adult ASD and comparison group, with both showing implicit overestimation of emotional stimuli. Further, there was no correlation between overestimation of emotional stimuli and autistic traits in undergraduate students...
April 20, 2017: Journal of Autism and Developmental Disorders
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