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https://www.readbyqxmd.com/read/28213805/an-overview-of-autism-spectrum-disorder-heterogeneity-and-treatment-options
#1
REVIEW
Anne Masi, Marilena M DeMayo, Nicholas Glozier, Adam J Guastella
Since the documented observations of Kanner in 1943, there has been great debate about the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known as autism spectrum disorder (ASD). Reflecting this complicated history, there has been continual refinement from DSM-III with 'Infantile Autism' to the current DSM-V diagnosis. The disorder is now widely accepted as a complex, pervasive, heterogeneous condition with multiple etiologies, sub-types, and developmental trajectories. Diagnosis remains based on observation of atypical behaviors, with criteria of persistent deficits in social communication and restricted and repetitive patterns of behavior...
February 17, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28213519/an-extra-amino-acid-residue-in-transmembrane-domain-10-of-the-gaba-transporter-gat-1-is-required-for-efficient-ion-coupled-transport
#2
Oshrat Dayan, Anu Nagarajan, Raven Shah, Assaf Ben-Yona, Lucy R Forrest, Baruch I Kanner
The GABA transporter GAT-1 mediates electrogenic transport of its substrate together with sodium and chloride. It is a member of the neurotransmitter:sodium:symporters, which are crucial for synaptic transmission. Compared to all other neurotransmitter:sodium:symporters, GAT-1 and the other members of the GABA transporter subfamily, all contain an extra amino acid residue at or near a conserved glycine in transmembrane segment 10. Therefore, we studied the functional impact of deletion and replacement mutants of Gly-457, and its two adjacent residues in GAT-1...
February 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28196430/first-in-human-trial-of-a-type-i-positive-allosteric-modulator-of-alpha7-nicotinic-acetylcholine-receptors-pharmacokinetics-safety-and-evidence-for-neurocognitive-effect-of-avl-3288
#3
Kelvin W Gee, Ann Olincy, Richard Kanner, Lynn Johnson, Derk Hogenkamp, Josette Harris, Minhtam Tran, Stephen A Edmonds, William Sauer, Ryan Yoshimura, Timothy Johnstone, Robert Freedman
Type I positive allosteric modulators (PAMs) of the alpha7-nicotinic receptor enhance its cholinergic activation while preserving the spatiotemporal features of synaptic transmission and the receptor's characteristic rapid desensitization kinetics. Alpha7-nicotinic receptor agonists have shown promise for improving cognition in schizophrenia, but longer-term trials have been disappointing. Therefore, the type I PAM AVL-3288 was evaluated for safety and preliminary evidence of neurocognitive effect in healthy human subjects...
February 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28180327/phosphorylation-specific-status-of-rnai-triggers-in-pharmacokinetic-and-biodistribution-analyses
#4
Vladimir S Trubetskoy, Jacob B Griffin, Anthony L Nicholas, Eric M Nord, Zhao Xu, Ryan M Peterson, Christine I Wooddell, David B Rozema, Darren H Wakefield, David L Lewis, Steven B Kanner
No abstract text is available yet for this article.
February 17, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28160869/association-between-selective-serotonin-reuptake-inhibitor-antidepressants-and-increased-risk-of-poststroke-epilepsy
#5
EDITORIAL
Andres M Kanner
No abstract text is available yet for this article.
February 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28158174/soleve-image-guided-targeted-hyperstimulation-analgesia-show-promising-clinical-results-in-chronic-low-back-pain
#6
Miguel Gorenberg, Ori Kanner
No abstract text is available yet for this article.
February 2017: Pain Physician
https://www.readbyqxmd.com/read/28158172/image-guided-targeted-hyperstimulation-analgesia-is-superior-to-placebo-in-chronic-low-back-pain
#7
Miguel Gorenberg, Ori Kanner
No abstract text is available yet for this article.
February 2017: Pain Physician
https://www.readbyqxmd.com/read/28089420/regression-of-intracranial-meningioma-following-treatment-with-nivolumab-case-report-and-review-of-the-literature
#8
Efrat Gelerstein, Assaf Berger, Tali Jonas-Kimchi, Ido Strauss, Andrew A Kanner, Deborah T Blumenthal, Maya Gottfried, Nevo Margalit, Zvi Ram, Tal Shahar
The treatment of refractory meningiomas remains a challenge for both neurosurgeons and neuro-oncologists. There have been no clinical reports of the use or effects of anti-PD-1 therapy in patients with meningioma. We describe a patient whose intracranial meningioma decreased significantly in size after treatment with nivolumab, a monoclonal antibody targeting PD-1, for a concomitant advanced lung cancer. This is the first clinical report suggesting that antibodies targeting PD-1 are effective in treating meningioma...
March 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28048850/su-g-brc-14-multi-lesion-multi-rx-brain-radiosurgery-with-novel-single-isocenter-technique
#9
N Honig, S Alani, A Schlocker, N Shtraus, A Kanner
PURPOSE: There is a strong trend to treat multiple brain metastases with radiosurgery rather than whole brain irradiation. This feasibility study investigates a novel planning technique for radio-surgical treatment of multiple brain lesions with differing dose prescriptions, a single isocenter, and dynamic conformal arcs. The novel technique will be compared to the well-established single-isocenter volumetric modulated arc therapy (VMAT) technique commonly used for treating brain lesions...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/27886180/microrna-regulation-of-endothelial-trex1-reprograms-the-tumour-microenvironment
#10
RaeAnna Wilson, Cristina Espinosa-Diez, Nathan Kanner, Namita Chatterjee, Rebecca Ruhl, Christina Hipfinger, Sunil J Advani, Jie Li, Omar F Khan, Aleksandra Franovic, Sara M Weis, Sushil Kumar, Lisa M Coussens, Daniel G Anderson, Clark C Chen, David A Cheresh, Sudarshan Anand
Rather than targeting tumour cells directly, elements of the tumour microenvironment can be modulated to sensitize tumours to the effects of therapy. Here we report a unique mechanism by which ectopic microRNA-103 can manipulate tumour-associated endothelial cells to enhance tumour cell death. Using gain-and-loss of function approaches, we show that miR-103 exacerbates DNA damage and inhibits angiogenesis in vitro and in vivo. Local, systemic or vascular-targeted delivery of miR-103 in tumour-bearing mice decreased angiogenesis and tumour growth...
November 25, 2016: Nature Communications
https://www.readbyqxmd.com/read/27884642/psychiatric-comorbidities-in-epilepsy-should-they-be-considered-in-the-classification-of-epileptic-disorders
#11
Andres M Kanner
The prevalence of psychiatric comorbidities is relatively high in people with epilepsy (PWE), as one in three patients will have experienced a psychiatric disorder in the course of their life. The new definition of epilepsy recognizes these comorbidities as part of the seizure disorder, which need to be recognized and treated together with the actual epileptic seizures. Psychiatric comorbidities have a complex relation with epilepsy, being associated with a negative course of the seizure disorder, worse tolerance of pharmacotherapy with AEDs, development of iatrogenic psychiatric complications from pharmacologic and surgical treatments, and increased mortality risks...
November 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27669633/aging-with-autism-spectrum-disorder-an-emerging-public-health-problem
#12
Ana Hategan, James A Bourgeois, Jeremy Goldberg
From 1943, when Leo Kanner originally described autism, and to the first objective criteria for "infantile autism" in DSM-III and the inclusion of Asperger's disorder in DSM-IV, the subsequent classification scheme for autistic disorders has led to a substantial change with the 2013 issuance of the DSM-5 by including subcategories into one umbrella diagnosis of autism spectrum disorder (ASD) (Baker, 2013). ASD is a lifelong neurodevelopmental disorder, characterized by social and communication impairments and restricted, stereotypical patterns of behavior (Baker, 2013)...
September 27, 2016: International Psychogeriatrics
https://www.readbyqxmd.com/read/27651455/phosphorylation-specific-status-of-rnai-triggers-in-pharmacokinetic-and-biodistribution-analyses
#13
Vladimir S Trubetskoy, Jacob B Griffin, Anthony L Nicholas, Eric M Nord, Zhao Xu, Ryan M Peterson, Christine I Wooddell, David B Rozema, Darren H Wakefield, David L Lewis, Steven B Kanner
The RNA interference (RNAi)-based therapeutic ARC-520 for chronic hepatitis B virus (HBV) infection consists of a melittin-derived peptide conjugated to N-acetylgalactosamine for hepatocyte targeting and endosomal escape, and cholesterol-conjugated RNAi triggers, which together result in HBV gene silencing. To characterize the kinetics of RNAi trigger delivery and 5'-phosphorylation of guide strands correlating with gene knockdown, we employed a peptide-nucleic acid (PNA) hybridization assay. A fluorescent sense strand PNA probe binding to RNAi duplex guide strands was coupled with anion exchange high performance liquid chromatography to quantitate guide strands and metabolites...
September 19, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27624646/kanner-asperger-and-frankl-a-third-man-at-the-genesis-of-the-autism-diagnosis
#14
John E Robison
Scholars have long speculated about how Kanner and Asperger's descriptions of autistic behavior appeared just 1 year apart in America and Austria even as World War II had severed communication between the two countries. Both conspiracy and serendipity have been alleged, but a simpler explanation has now emerged. Autistic knowledge crossed the Atlantic with Georg Frankl-a previously unrecognized "man in the middle" who followed his fiancé to America. The evidence presented here fills in many blanks and suggests both Kanner and Asperger benefited from Frankl's insight...
September 13, 2016: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/27579823/biomarkers-predictive-of-exacerbations-in-the-spiromics-and-copdgene-cohorts
#15
Jason D Keene, Sean Jacobson, Katerina Kechris, Gregory L Kinney, Marilyn G Foreman, Claire M Doerschuk, Barry J Make, Jeffrey L Curtis, Stephen I Rennard, R Graham Barr, Eugene R Bleecker, Richard E Kanner, Eric C Kleerup, Nadia N Hansel, Prescott G Woodruff, MeiLan K Han, Robert Paine, Fernando J Martinez, Russell P Bowler, Wanda K O'Neal
RATIONALE: Chronic obstructive pulmonary disease exacerbations are associated with disease progression, higher healthcare cost, and increased mortality. Published predictors of future exacerbations include previous exacerbation, airflow obstruction, poor overall health, home oxygen use, and gastroesophageal reflux. OBJECTIVES: To determine the value of adding blood biomarkers to clinical variables to predict exacerbations. METHODS: Subjects from the SPIROMICS (Subpopulations and Intermediate Outcomes Measures in COPD Study) (n = 1,544) and COPDGene (Genetic Epidemiology of COPD) (n = 602) cohorts had 90 plasma or serum candidate proteins measured on study entry using Myriad-RBM multiplex panels...
February 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27564413/age-and-small-airway-imaging-abnormalities-in-subjects-with-and-without-airflow-obstruction-in-spiromics
#16
Carlos H Martinez, Alejandro A Diaz, Catherine Meldrum, Jeffrey L Curtis, Christopher B Cooper, Cheryl Pirozzi, Richard E Kanner, Robert Paine, Prescott G Woodruff, Eugene R Bleecker, Nadia N Hansel, R Graham Barr, Nathaniel Marchetti, Gerard J Criner, Ella A Kazerooni, Eric A Hoffman, Brian D Ross, Craig J Galban, Christine T Cigolle, Fernando J Martinez, MeiLan K Han
RATIONALE: Aging is associated with reduced FEV1 to FVC ratio (FEV1/FVC), hyperinflation, and alveolar enlargement, but little is known about how age affects small airways. OBJECTIVES: To determine if chest computed tomography (CT)-assessed functional small airway would increase with age, even among asymptomatic individuals. METHODS: We used parametric response mapping analysis of paired inspiratory/expiratory CTs to identify functional small airway abnormality (PRM(FSA)) and emphysema (PRM(EMPH)) in the SPIROMICS (Subpopulations and Intermediate Outcome Measures in COPD Study) cohort...
February 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27544484/astrocytes-from-old-alzheimer-s-disease-mice-are-impaired-in-a%C3%AE-uptake-and-in-neuroprotection
#17
Tal Iram, Dorit Trudler, David Kain, Sivan Kanner, Ronit Galron, Robert Vassar, Ari Barzilai, Pablo Blinder, Zvi Fishelson, Dan Frenkel
In Alzheimer's disease (AD), astrocytes undergo morphological changes ranging from atrophy to hypertrophy, but the effect of such changes at the functional level is still largely unknown. Here, we aimed to investigate whether alterations in astrocyte activity in AD are transient and depend on their microenvironment, or whether they are irreversible. We established and characterized a new protocol for the isolation of adult astrocytes and discovered that astrocytes isolated from old 5xFAD mice have higher GFAP expression than astrocytes derived from WT mice, as observed in vivo...
August 17, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27532455/common-genetic-polymorphisms-influence-blood-biomarker-measurements-in-copd
#18
Wei Sun, Katerina Kechris, Sean Jacobson, M Bradley Drummond, Gregory A Hawkins, Jenny Yang, Ting-Huei Chen, Pedro Miguel Quibrera, Wayne Anderson, R Graham Barr, Patricia V Basta, Eugene R Bleecker, Terri Beaty, Richard Casaburi, Peter Castaldi, Michael H Cho, Alejandro Comellas, James D Crapo, Gerard Criner, Dawn Demeo, Stephanie A Christenson, David J Couper, Jeffrey L Curtis, Claire M Doerschuk, Christine M Freeman, Natalia A Gouskova, MeiLan K Han, Nicola A Hanania, Nadia N Hansel, Craig P Hersh, Eric A Hoffman, Robert J Kaner, Richard E Kanner, Eric C Kleerup, Sharon Lutz, Fernando J Martinez, Deborah A Meyers, Stephen P Peters, Elizabeth A Regan, Stephen I Rennard, Mary Beth Scholand, Edwin K Silverman, Prescott G Woodruff, Wanda K O'Neal, Russell P Bowler
Implementing precision medicine for complex diseases such as chronic obstructive lung disease (COPD) will require extensive use of biomarkers and an in-depth understanding of how genetic, epigenetic, and environmental variations contribute to phenotypic diversity and disease progression. A meta-analysis from two large cohorts of current and former smokers with and without COPD [SPIROMICS (N = 750); COPDGene (N = 590)] was used to identify single nucleotide polymorphisms (SNPs) associated with measurement of 88 blood proteins (protein quantitative trait loci; pQTLs)...
August 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27492391/klippel-tr%C3%A3-naunay-syndrome-need-for-careful-clinical-classification
#19
Kevin R Volz, Christopher D Kanner, Julie Evans, Kevin D Evans
Klippel-Trénaunay syndrome (KTS) is a rare congenital malformation characterized by a triad of clinical presentations: (1) capillary malformations manifesting as a "port wine stain"; (2) limb hypertrophy; and (3) venous varicosities. It is distinguished from Parkes-Weber syndrome by the absence of substantial arteriovenous shunting. Due to the clinical implications of an arteriovenous fistula, differentiation between the two syndromes is important, as the prognosis and treatment greatly differ. We present a series of 5 cases of suspected KTS, while emphasizing the difficulties in distinguishing KTS from Parkes-Weber syndrome without diagnostic imaging and underscoring the importance of accurately classifying patients with the appropriate syndrome...
September 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27464262/long-term-evolution-of-multiple-sclerosis-disability-in-the-treatment-era
#20
Bruce A C Cree, Pierre-Antoine Gourraud, Jorge R Oksenberg, Carolyn Bevan, Elizabeth Crabtree-Hartman, Jeffrey M Gelfand, Douglas S Goodin, Jennifer Graves, Ari J Green, Ellen Mowry, Darin T Okuda, Daniel Pelletier, H-Christian von Büdingen, Scott S Zamvil, Alisha Agrawal, Stacy Caillier, Caroline Ciocca, Refujia Gomez, Rachel Kanner, Robin Lincoln, Antoine Lizee, Pamela Qualley, Adam Santaniello, Leena Suleiman, Monica Bucci, Valentina Panara, Nico Papinutto, William A Stern, Alyssa H Zhu, Gary R Cutter, Sergio Baranzini, Roland G Henry, Stephen L Hauser
OBJECTIVE: To characterize the accrual of long-term disability in a cohort of actively treated multiple sclerosis (MS) patients and to assess whether clinical and magnetic resonance imaging (MRI) data used in clinical trials have long-term prognostic value. METHODS: This is a prospective study of 517 actively managed MS patients enrolled at a single center. RESULTS: More than 91% of patients were retained, with data ascertained up to 10 years after the baseline visit...
October 2016: Annals of Neurology
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