INTRO COMPTR SCI II
INTRO COMPTR SCI II I&C Sci 22
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This 48 page Class Notes was uploaded by Joanie Armstrong on Saturday September 12, 2015. The Class Notes belongs to I&C Sci 22 at University of California - Irvine taught by Staff in Fall. Since its upload, it has received 102 views. For similar materials see /class/201853/i-c-sci-22-university-of-california-irvine in Information And Computer Science at University of California - Irvine.
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Date Created: 09/12/15
Velocardiofacial Syndrome Effects of Haploinssu ciency of the COMT gene on Brain Function Doron Gothelf MD The Behavioral Neurogenetics Center Feinberg Department of Child Psychiatry Schneider Children s Medical Center of Israel Tel Aviv University DSMBased Psychiatric Research Di SQS39dQ i de ned by DSNIHCD pl zeumn iermlagyJ gwnpmn lg and Sig g a Cagnitiw de cits Should Our Understanding of the Brain Start with DSMDefined Disorders Rusk Factor A Risk Factor H Rusk Factor B Risk Factor 3 Rusk Factor C Risk Factor D Rusk Factor E ehavmm Newrogemetmcs o Behavim39 o Psychiamc Sympmms o a o agmimm uawnmf39IlLwkrw s DNA 3mm iwmfem What is Schizophrenia Really Rusk Factor A Risk Factor H Risk Factor B Risk Factor 3 Rusk FactOr C Risk Factor D 22111 inlmh n VeloCardioFacial I DiGeorge I 22q112 Deletion Syndrome A Model For Understanding Etiological and Pathophysiological Pathways Leading to Schizophrenia VeloCardioFacial I DiGeorge Syndrome Typical facial features Cleft anomalies VCFS Congenital cardiac anomalies Immunological de ciencies D39George Hypocalcemia Syndrome mod anquot 9y similar on VCFS 8 D GQWQQ Syndhmxmg am Causal by a M cmdie gt m in Clhmmmame 22 IIIIDU HEM IDIHI JIQ Ill 22CI1 1 2 tar 73H quotquotquot m 1 c1 Cd 6 m 399 m m U I m to Q LLAE39LLEED g LL E II to F 4 onm g F mv r ngxmomgg ugtuv mx oz g m 8 Qmmw54ua omm2m8mr z m E Wmn mFmO IZDQFOOFOF F N 0 22011 V x 7 7 TRENDS in Mobcufnr 4mm d Fig1 EblstionsafZanaswciatsdwiththe 39 r TL quot reported 39 39 22w Huu n 1 quot 39 TDRof3Mbb Prevalence 12000 14000 live births The most common known microdeletion syndrome Cognitive De cits in VCFS Borderline intelligence Performance IQ lt verbal IQ in children Verbal IQ lt Performance IQ adults Relative strength in reading writing and spelling De cits in mathematics and visuospatial perception Common Psychiatric Disorders in VCFS ADHD 40 Anxiety disorders 50 Psychotic disorders 30 Depressive disorders 20 VCFS and Schizophrenia 30 of subjects with VCFS develop psychosis by early adulthood Murphy 1999 The psychotic disorder is clinically similar to idiopathic schizophrenia Bassett 2003 VCFS is the most common identi able genetic risk factor to schizophrenia Volumetric Findings in Children with VCFS 11 reduction in overall brain volume Relatively preserved prefrontal volume Decreased parietal lobe volume Decreased posterior fossa volumes eg cerebellar vermis Enlarged amygdala Eliez 2000 2002 Kates 2001 2006 Simon 2005 Cortical Thickness in VCFS Decreased cortical thickness in VCFS compared to controls Parietooccipital cortex Lateral occipital gyrus Inferior frontal gyrus Bearden Cerebral Cortex 2007 17188998 Candidate Gems fo Nemm pswhiiiatri dlimrdgrs mm the 22m 1 Rgg im IIIIDU HEM IDIHI JIQ Ill 22CI1 1 2 tar 73H quotquotquot m 1 c1 Cd 6 m 399 m m U I m to Q LLAE39LLEED g LL E II to F 4 onm g F mv r ngxmomgg ugtuv mx oz g m 8 Qmmw54ua omm2m8mr z m E Wmn mFmO IZDQFOOFOF F N 0 22011 V x 7 7 TRENDS in Mobcufnr 4mm d Fig1 EblstionsafZanaswciatsdwiththe 39 r TL quot reported 39 39 22w Huu n 1 quot 39 TDRof3Mbb affects catabolism of catecholamine neurotransmitters Catecholamine High activity Low activity Zalsman et al All subjects with VCFS carry only one copy of the COMT gene High activity m Low activity Catecholamine Pne onta Cognitive Function and Pm mnm opam ne Leve s The MGM Us Slhape Curve Prefro ntal Cognitive Function Prefrontal Dopamine Levels e dmenReiKlt en COMT Genotype and he Inverted Uu Shape Curve n nonNCFS Subjecb H lth suited Prefrontal CognltIVe j39HaIIMet MeUMet Function Prefrontal Dopamine Levels CONT Genotype and the Imerted Us Shape Curve n VCIFS Suhjm s Healthy subjects Prefrontal VCFS COQn39t39VB ValfMet MeUMet Val Function Prefrontal Dopamine Levels The Stanford Longitudinal Study 0 30 children with VCFS and 23 matched IQ controls were evaluated rst at the age of 13 years and reevaluated at 18 years o At time 1 none of the subjects had a psychotic disorder At time 2 seven subjects 30 developed a psychotic disorder Gothelf et al Nat Neuroscience 20051115002 Longitudlinal E ec of COMT Genotype on Change m VNIIQ in VCF S Change in verbal IQ WET1 scores 15 1 ram gt g 0 L ML quot1 W d 0 1o 5 0 7 M Q 5 10 765 H 1111an 15 20 I I Met Val CONT Genotype and Psychosis in VCFS 3970 6039 50 4o BPRS at T2 30 1 2039 I 10 Psychiatric Symptoms Predicting Psychosis in VCFS Mil Time 2 COMT Met Subthreshold Psychotic Sx Anxiety Disorder or SX OCD Lower VIQ HJ Treat with Atypical antipsycho cs Gothelf et al Am J Psychiatry 2007 1646639 Lomg md 3 0 nal Changes V urme Dmmg Adoescemce Figure 1a g 20 g E g o O E 3 10 t t E c g I U 0 39 g 39 8 a E O E 0 510 2 20 220111208 Con39trols DWWQ a W mg m i f l i v g Hm n W Kquot a 1 1 m 31 A A xx urrvn r V 390 r 2 7 KL 17 HQ WUQHS Y 1 18 1 9 W Wquot y Whit WV L Ev L f g E Mite Mattgr Lomgitmd inai Changes Superior Tempmal Gyms wing Addescwce Figure 1c 1 o O 00 A17 3 71a9 x rug n r 3123 1 Kgrg r 39239 Vnquot 39 339r 31 ilr3939 ugl g aJyQIQJ Mgu rw7amp1in UJUHLUHJUjkgl j I H O 0 O 2 Change in STG GM Vo ume 22 q1i3912DS Con39trols Longitudinal Changes Amygdalia V lmme DuwrimgAdQHesmme Change in Amygda a Volume Figure 1d 2 E 2417 39 39 3be A v E 1 av 39 r 4 r 1 O ng 531 UQUE W t M U J QQMQ 1 U Ef e I n I l39 C r l N iili iilii 22 1391 203 Con39trols CQMT Gem pe and PFC Activathm in MOMEVCFS subjects 00 Signal Change Normal Subjects 7 E E 1quot 47 J J 1F iv LU J F V4quot 7 39 aquot V in quotU 11 x quotquot 2 My g L J mg al mg39mirJUw JH h Wavy L CQWLMW u vix 11 valval valmet metmet COMT Genotype CQMT Geriatpr and PFC Agt vati m VCF S subjegts VCFS o Signal Change val met COMT Genotype GolNoGo Behavioral Scores VCFS Typicals Developmental n13 n14 Delay n9 Age 178 35 172 34 181 48 MalesIFemales 8l5 77 45 Fullscale IQ 745 189 1222 128 812 101 False alarms 132 121 84 51 153 147 rate RT to No Go 4118 1273 4177 1399 5328 2102 errors Typical Controls gt VCFS and Developmentally Delayed Controls Greater Parietal activation in VCFS vs controls during the GoINoGo condition Greater activation in VCFS compared to typically developing TD and developmentally disabled DD controls in superior amp inferior parietal lobules Gothelf et al Human Brain Mapping 2007 28533542 Greater ACC Activation Met gtVal in VCFS While Performing GolNoGo task 0 ROI analyses restricted to BA 946 and 2432 o BA24 Tel 4 5 31 Plt005 corrected Cluster size 54 voxels VCFS Met carriers compensate for an inhibitory de cit by additional recruitment of prefrontal regions Association of COMT Met with ADHD and OCD in VCFS an Israeli Sample Rate of psychiatric disorders n 55 ADHD 42 OCD 25 SZISzaff 9 I with COMT Met 39 q ADHD OCD SZISzal39f Control Gothelf et al Int J Neuropsychopharm 2007 103018 Periphem DA markers Em Respamse t0 AMIPT in VCFS Met Carrigrs 1 W 7 q WV a NI A r 7 FEM HRS M QH x W W WE x r 7 A a y my HQJW Q ECU QQWW a 250 22q1IDs b 3 Conlruls A 25 g E 200 39 m 5 2 3 150 me g E EE 15 100 2 P a 1 5 so 25 05 12 22qnos v y L Connols o 3 G O 3 100 Time hours Time hours an o O 32 o D o 0 Mean plasma PRL lugL R A CD 0 O C DAHVAraho O C O 0 Mean plasma HVA nmolJL A m 0 l m 0 O D O O gt 4 40 38 a u 4 y 30 1o 0 3 e U V c Time hours 0 3 6 0 3 6 Turns hours Time hours gm m m 3 3 GD Effect of COMT Genotype on Neurophysiological amp Cognitive Functions VCFS Met carriers compared to controls Elicited signi cantly smaller mismatch negativity MMN amplitudes for both tone duration and speech voicing deviants Performed more poorly on tests expressive language and verbal working memory tasks Baker Biol Psychiatry 2005 582331 Effect f CQM T Genotype an ram Morphology 25 A G A 52000 2 8000 E L 39 I 5 E 50000 6 39 1 gt 600039 3 f gt 5 3 48000 0 o o O E o I m 4000 0 c 8 g E s I c 46000 0 U I 0 lt a 0 j E L E 20 oo 39 39 T 5 oo o 39 g M F M g 440 GENDER GENDER Va Met LE 9 n r m Madman 2 Ka h 4 J h ji fi d a d COMT MetVal Genotype in VCFS Additional Findings No association between the COMT genotype and executive functioning and working memory Kates 2006 Van Amelsvoort 2008 Glaser 2006 Association of the COMT Val allele with worse cognitive functioning in children with VCFS Bearden 2004 No association of COMT genotype with schizophrenia but Met carriers performed worse on frontal cognitive tests communication and social functioning measures Bassett 2007 PQSSible Ex plamat1igtons fm mmmsistemes R hub JL gt T sjh xquot EMU W x Em w 165599 209750 lr3737865 I H I U H 1 2 3 4 5 6 1kb 29 kb 06 05 EIAGG 0 4 IAGA 1 DAAA 0 3 In El GAA g I GGA 0 2 lt EAAG r 01 r 0 OCD ADHD Control Possible Explanations for Inconsistencies in Results Interactions with other genes from the 22q112 deletion region eg PRODH VCFS subjects with COMT Met Hyperprolinemia had 28 increased risk for psychosis Raux 2007 Interaction with other genes outside the 22q112 deletion region eg BDNF Interaction with gender Difference in samples age range children vs adults and crosssectional vs longitudinal design Met carriers are doing better during childhood and deteriorate during adolescence following the increase in prefrontal dopamine levels Theoretical Model of Developmental Psychopathology in VCFS 6 Kates et al Am J Psychiatry 2007 22nd Informal Symposium on Kinetics and Photochemical Processes in the Atmosphere 2005 February 14 2005 745 AM 700 PM Beckman Center of the National Academies of Sciences and Engineering PROGRAM University of California at Irvine Sponsored by APEP Advanced Power and Energy Program at UCI AirUCI Environmental Molecular Science Institute supported by NSF California Air Resources Board The Henry Samueli School of Engineering National Science Foundation39s Atmospheric Sciences Program REGISTRATION amp BREAKFAST 745830 830840 SESSION 1 8409 10 9101030 SESSION 11 10301100 11001210 LUNCH 1210120 SESSION III 120150 150310 SESSION IV 310340 340500 500510 DINNER 510700 Arrival Registration Breakfast and Poster SetUp Welcome and Opening Remarks Invited Talk by Barbara FinlaysonPitts quotReactions at Interfaces The Next Frontier in Atmospheric Chemistryquot Poster Summaries and Viewing Posters 111 Invited Talk by Scott Samuelsen quotThe Emergence of Fuel Cells in Response to Atmospheric Chemistryquot Poster Summaries and Viewing Posters 1225 Invited Talk by David Cocker quotEvaluations of secondary of organic aerosol processes using the new UCR chamberquot Poster Summaries and Viewing Posters 2640 Invited Talk by Veronica Vaida quotAtmospheric photochemistry with Visible solar radiationquot Poster Summaries and Viewing Posters 4150 Concluding Remarks Dinner for those who stay poster removal LIST OF POSTERS Asterisks labels the presenting author S session number Pst Postertalk title Authors Presenter S Development of Laser IonizationMass Spectrometry for Chris Fernandez Guy Dadson 1 1 Studying 39 39 Radicals Liana Gonzalez and Scott Hewitt Chris Fernandez Significance of the Urban Canopy for Atmospheric Hurlock SGeyer A and 1 2 Chemistry Stutz J Steve Hurlock Jennie Thomas Angel Jimenez Interface reactions on NaCl and NaBr aerosols Aranda Donald Dabdub and 1 3 Influence on molecular halogen production Barbara FinlaysonPitts Jennie Thomas John Newberg and John 1 4 HalateHalide Reactions in Thin Film Water Hemminger John Newberg John Vieceli Martina Roeselova Nicholas Potter Liem Atmospheric Oxidants at the AirNVater Interface X Dang Bruce C Garrett and 1 5 39 39 and Solvation of OH and 03 Douglas J Tobias John Vieceli Rosa Aguilera Julie Lee Kinetics of Chlorine Atom Reactions with Gayathri Nagasundaram and 1 6 C39 39 39 Scott Hewitt Rosa Aguilera Chemistry and Photochemistry of NOy in Thin Water Kevin Ramazan Lisa Wingen 1 7 Films Using a Newly Designed Apparatus and Barbara FinlaysonPitts Kevin Ramazan Preliminary results on a study of acetonesulfuric Raffaella D39Auria and 1 8 acidwater ion clusters Richard P Turco RaffaeIIa D39Auria Heterogeneous Formation of Nitrous Acid in Urban Trick S Geyer A Hurlock S 1 9 Areas and Stutz J Sebastian Trick An FTIR study of S02 uptake and oxidation on OH William Robertson Huda radical processed seasalt components Implications Shaka and Barbara Finlayson William 1 10 for sulfur 39 in seasalt aerosol Pitts Robertson Yael Dubowski John Vieceli Douglas Tobias Anthony Gomez Ao Lin Sergey Realtime monitoring of ozonolysis of unsaturated Nizkorodov Rachelle SmaIIey SAMs using ATRFTIR Kinetics mechanisms and Theresa McIntire and Barbara 1 11 39 39 39 39 39 FinlaysonPitts Theresa McIntire Biomass Burning Influences on Atmospheric Alan Kwan John Crounse Paul 2 12 Cnmnn itinn During INTEX NA Wennberg Alan Kwan Andreas Beyersdorf Nicola Blake Aaron Swanson Simone Meinardi Jack Dibb Steve Sjostedt Dave Tanner Greg Approximation of Hydroxyl Concentrations in the Huey Donald Blake and F S Andreas 2 13 Summer Snowpack at Summit Greenland Rowland Beyersdorf Angela Baker Andreas Beyersdorf Lambert Doezema Aaron Katzenstein Simone Meinardi Donald Blake and F 2 14 l39 39 39 Di trihnrinn in US Cities S Rowland Angela Baker Barbara Barletta Simone Meinardi F Sherwood Rowland ChuenYu Chan Xinming Wang Shichun Zou Lo Yin Chan 2 15 Volatile Organic 39 in Chinese urban areas Donald R Blake Barbara Barletta Simultaneous Measurements of Vertical Columns and Chen C Lawrence L Boundary Layer Concentrations of NOS at Table Cageao R Sander S and 2 16 Mountain Stutz J Claudine Chen 0 Specific Characterization of Benzoapyrene Diones Using LCMSMS Ambient Monitoring of NO2 by Cavity Ringdown I 1 Air quality modeling what do numbers really mean Exequiel Tostado Noe Ramos and Krishna Foster James Hargrove Liming Wang Mark Muyskens Karen Muyskens and Jingsong Zhang Marc Carreras Marco Rodriguez Jack Brouwer Scott Samuelsen and Donald Dabdub Mo Arellanes and Suzanne Exequiel Tostado James Hargrove Marc Carreras 20 Monitoring Urban Aerosols for H 39 39 E Paulson Mo Arellanes Myeong Chung Rick Lazaro Field measurements of quinone mass loadings in Joscelyn Jackson Dianne 21 ambient particulate matter Lim and Aam Hasson Myeong Chung Violation of NAAQS levels for ozone in indoor Nicole Britigan and Sergey 22 39 y several quotair purifiersquot sold in US Nizkorodov Nicole Britigan Validation of MultiAxis DOAS Measurements of Pikelnaya O Hurlock S Trick 23 T 39 39 NO2 and HCHO S and Stutz J Olga Pikelnaya Atmospheric column abundances retrieved from groundbased nearinfrared solar spectra in Park Falls R Washenfelder G Toon JF Rebecca 24 Wisconsin Blavier Z Yang PO Wennberg quot 39 39 39 Vertical Profiles of Nocturnal O3NOx Chemistry in the Urban Boundary Layer Field Observations in Phoenix 25 and C quot Model Studies Wang S Trick S and Stutz J Shuhui Wang A Noell L S Alconcel D J Peroxy Radical Kinetics Studied by lnfrared Kinetic Robichaud M Okumura S P 26 HO2 EtO2 Sander Aaron Noell Temperature Dependent Kinetic Study of the Reactions 27 of Atomic Chlorine with Several VOCs at 260 340 K Ali Pirasteh and Zhuangjie Li Ali Pirasteh Ernesto C Tuazon Sara M Kinetics and Products of the OH RadicalInitiated Aschmann Noriko Nishino Janet 28 Reaction of 3Methyl2butenal Arey and Roger Atkinson Noriko Nishino Gabriel Aleman Cara Kinetics of Chlorine Atom Reactions with Naphthalene Malolepsy Claudia Quant 29 and quot 39 39 39 39 39 Xingyu Peng and Scott Hewitt Gabriel Aleman Jaron C Hansen Stanley P 30 Kinetics ofthe CIOOCI OH Reaction Sander Randall R Friedl Jaron C Hansen Experimental and Theoretical Study on lsoprene 31 Oxidation Initiated by Hydroxyl Radicals Jiho Park Simon W North Jiho Park Contributions of organic peroxides to secondary aerosol Kenneth Docherty VWbur Wu Kenneth 32 formed from reactions of wi Yong Bin Lim and Paul Ziemann Docherty 33 A Kinetic and Product Study of the Cl HO2 reaction Kevin Hickson and Leon Keyser Kevin Hickson The influence of Ammonia on Secondary Organic Kwangsam Na Cameron 34 Aerosol Formation Switzer and David Cocker Kwangsam Na Reactions of Chlorine Atoms with a Series of Aromatic Lin Wang Janet Arey and 35 l 39 39 39 Roger Atkinson Lin Wang Nga Lee Ng Jesse H Kroll Shane M Murphy Varuntida Varutbangkul Song Gao Chamber studies of secondary organic aerosol Richard C Flagan and John H 36 formation by glyoxal 39 39 Seinfeld Nga Lee Ng A Kinetic Study of the Rate Constants for the Gas Phase Reaction of the 13 Butadiene with OH Radical Over the Temperature Range 240340 K Using Relative RateDischarge Fast FlowMass Spectrometer 37 Technique Phu Nguyen and Zhuangjie Li Phu Nguyen A Kinetic Study of the Reaction of Atomic Chlorine with Octanal Nonanal and Decanal from 253 330 K Using the Relative RateDischarge Fast FlowMass 38 Method Rick Stoody and Zhuangjie Li Rick Stoody Products and mechanism of secondary organic aerosol formation from reactions of linear alkanes with O 40 radicals in the presence of NOx Yong Bin Lim and Paul Ziemann Yong Bin Lim Effects of Ammonia on the Reactions of Nitrogen 39 Dioxide in Water Vapor Bob Zhang and FuMing Tao Bob Zhang Andrew K Mollner Lin Feng Cavity Ringdown measurement of the photolysis Da Lin Stanley P Sander and 41 initiated OHN02 reaction Mitchio Okumura Andrew Mollner Anthony Gomez Maggie Walser Nicole Britigan Jiho 42 Photolysis of model aged organic aerosols Park Ao Lin Sergey Nizkorodov Anthony Gomez Theoretical Study of HydrogenBonded Complexes of Chlorophenols with Water or Ammonia Correlations Jun Han Richard L Deming 43 and Predictions of pKa Values and FuMing Tao Jun Han NearUV Photolysis Cross Section of CH3OOH and Coleen Roehl J L Fry Z 44 HMHP Determined via Action Marka and P O Wennberg Coleen Roehl Development of a triplequadrupole chemicalionization mass spectrometry TQCIMS system for insitu D C McCabe J D Crounse 45 39 39 ling A J Kwan and P O Wennberg David McCabe Juliane L Fry Anne B McCoy Joseph S Francisco Andrew K Vibrational Spectroscopy of ciscis HOONO Role of Mollner Paul Wennberg and 46 TorsionStretch Coupling and Quantum Yield Mitchio Okumura Juliane Fry Stable and Dissociative Photodetachment Studies of M Shane Bowen Kevin T the Allyl Alkoxide Anion CH2CHCH20 and the Early Daniel C Luhrs and 47 CH2CHCHOH Carbanion Robert E Continetti Kevin T Early Michael Ezell Michael Brown 48 Initial Studies of Nitrate F 39 y at Surfaces and Barbara FinlaysonPitts Michael Brown Sivakumaran Valluvadasan Kinetic study of the reaction OH N02 M under Daniel B Milligan William J Sivakumaran 49 39 39 condition Bloss and Stanley P Sander quot 39 Investigating the effects of Microwave heating and Stephen Mang Ao Lin and 50 vaporization on atmospheric aerosol particles Sergey Nizkorodov Stephen Mang LIST OF ATTENDEES Sorted by af liation Fullerton NOTES 22quotd Informal Symposium on Kinetics and Photochemical Processes in the Atmosphere NOTES 22quotd Informal Symposium on Kinetics and Photochemical Processes in the Atmosphere
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