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James buxbaum

Paige M Siper, Vance Zemon, James Gordon, Julia George-Jones, Stacey Lurie, Jessica Zweifach, Teresa Tavassoli, A Ting Wang, Jesslyn Jamison, Joseph D Buxbaum, Alexander Kolevzon
OBJECTIVE: There is a critical need to identify biomarkers and objective outcome measures that can be used to understand underlying neural mechanisms in autism spectrum disorder (ASD). Visual evoked potentials (VEPs) offer a noninvasive technique to evaluate the functional integrity of neural mechanisms, specifically visual pathways, while probing for disease pathophysiology. METHODS: Transient VEPs (tVEPs) were obtained from 96 unmedicated children, including 37 children with ASD, 36 typically developing (TD) children, and 23 unaffected siblings (SIBS)...
2016: PloS One
Sujit S Kulkarni, Mayo Hotta, Linda Sher, Robert R Selby, Dilipkumar Parekh, James Buxbaum, Maria Stapfer
BACKGROUND: Mirizzi syndrome (MS) is characterized by an obstruction of the proximal bile duct due to extrinsic compression by either an impacted stone in the gallbladder neck or local inflammatory changes. Although this is a rare syndrome in developed countries (0.7-1.4 %), preoperative diagnosis and careful surgical management are essential to avoid bilio-vascular injuries and misdiagnosed malignancy. METHODS: The purpose of this study was to review our experience in the diagnosis and management of MS, assess the role of laparoscopy and the risk of concomitant gallbladder carcinoma...
September 1, 2016: Surgical Endoscopy
Daniel S Evans, Christy L Avery, Mike A Nalls, Guo Li, John Barnard, Erin N Smith, Toshiko Tanaka, Anne M Butler, Sarah G Buxbaum, Alvaro Alonso, Dan E Arking, Gerald S Berenson, Joshua C Bis, Steven Buyske, Cara L Carty, Wei Chen, Mina K Chung, Steven R Cummings, Rajat Deo, Charles B Eaton, Ervin R Fox, Susan R Heckbert, Gerardo Heiss, Lucia A Hindorff, Wen-Chi Hsueh, Aaron Isaacs, Yalda Jamshidi, Kathleen F Kerr, Felix Liu, Yongmei Liu, Kurt K Lohman, Jared W Magnani, Joseph F Maher, Reena Mehra, Yan A Meng, Solomon K Musani, Christopher Newton-Cheh, Kari E North, Bruce M Psaty, Susan Redline, Jerome I Rotter, Renate B Schnabel, Nicholas J Schork, Ralph V Shohet, Andrew B Singleton, Jonathan D Smith, Elsayed Z Soliman, Sathanur R Srinivasan, Herman A Taylor, David R Van Wagoner, James G Wilson, Taylor Young, Zhu-Ming Zhang, Alan B Zonderman, Michele K Evans, Luigi Ferrucci, Sarah S Murray, Gregory J Tranah, Eric A Whitsel, Alex P Reiner, Nona Sotoodehnia
The electrocardiographic QRS duration, a measure of ventricular depolarization and conduction, is associated with cardiovascular mortality. While genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with QRS duration at 22 loci among those of European descent, the genetic architecture of QRS duration in non-European populations is largely unknown. We therefore performed a GWAS meta-analysis of QRS duration in 13,031 African Americans from ten cohorts and a transethnic GWAS meta-analysis with additional results from populations of European descent...
August 29, 2016: Human Molecular Genetics
Yuji Kajiwara, Andrew McKenzie, Nate Dorr, Miguel A Gama Sosa, Gregory Elder, James Schmeidler, Dara L Dickstein, Ozlem Bozdagi, Bin Zhang, Joseph D Buxbaum
Recent studies have indicated that innate immune signalling molecules are involved in late-onset Alzheimer's disease (LOAD) risk. Amyloid beta (Aβ) accumulates in AD brain, and has been proposed to act as a trigger of innate immune responses. Caspase-4 is an important part of the innate immune response. We recently characterized transgenic mice carrying human CASP4, and observed that the mice manifested profound innate immune responses to lipopolysaccharide (LPS). Since these inflammatory processes are important in the aetiology of AD, we have now analysed the correlation of expression of caspase-4 in human brain with AD risk genes, and studied caspase-4 effects on AD-related phenotypes in APPswe/PS1deltaE9 (APP/PS1) mice...
August 11, 2016: Human Molecular Genetics
James Buxbaum, Nitzan Roth, Nima Motamedi, Terrance Lee, Paul Leonor, Mark Salem, Dolores Gibbs, John Vargo
OBJECTIVES: Sedation is required to perform endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic ultrasound (EUS) given the duration and complexity of these advanced procedures. Sedation options include anesthetist-directed sedation (ADS) vs. gastroenterologist-directed sedation (GDS). Although ADS has been shown to shorten induction and recovery times, it is not established whether it impacts likelihood of procedure completion. Our aim was to assess whether ADS impacts the success of advanced endoscopy procedures...
July 12, 2016: American Journal of Gastroenterology
James Buxbaum, Paul Leonor, Jonathan Tung, Christianne Lane, Ara Sahakian, Loren Laine
OBJECTIVES: Biliary cannulation is frequently the most difficult component of endoscopic retrograde cholangiopancreatography (ERCP). Techniques employed to improve safety and efficacy include wire-guided access and the use of sphincterotomes. However, a variety of options for these techniques are available and optimum strategies are not defined. We assessed whether the use of endoscopist- vs. assistant-controlled wire guidance and small vs. standard-diameter sphincterotomes improves safety and/or efficacy of bile duct cannulation...
July 5, 2016: American Journal of Gastroenterology
Ben Da, James Buxbaum
The practice of endoscopic sedation requires a thorough understanding of preprocedural assessment, sedation pharmacology, intraprocedure monitoring, adverse event management, and postprocedural care. The training process has become increasingly standardized and entails knowledge and practice-based components. The use of propofol in particular requires a higher level of structured training owing to its narrow therapeutic window. Simulation has increased opportunities for practice-based training in a controlled environment...
July 2016: Gastrointestinal Endoscopy Clinics of North America
Pedro Pimentel-Nunes, Diogo Libânio, Jorge Lage, Diogo Abrantes, Miguel Coimbra, Gianluca Esposito, David Hormozdi, Mike Pepper, Silvia Drasovean, Jonathan R White, Daniela Dobru, James Buxbaum, Krish Ragunath, Bruno Annibale, Mário Dinis-Ribeiro
BACKGROUND AND AIM: Some studies suggest that narrow-band imaging (NBI) can be more accurate at diagnosing gastric intestinal metaplasia and dysplasia than white-light endoscopy (WLE) alone. We aimed to assess the real-time diagnostic validity of high resolution endoscopy with and without NBI in the diagnosis of gastric premalignant conditions and to derive a classification for endoscopic grading of gastric intestinal metaplasia (EGGIM). METHODS: A multicenter prospective study (five centers: Portugal, Italy, Romania, UK, USA) was performed involving the systematic use of high resolution gastroscopes with image registry with and without NBI in a centralized informatics platform (available online)...
August 2016: Endoscopy
Sarah Sheibani, Saro Khemichian, John J Kim, Linda Hou, Arthur W Yan, James Buxbaum, Lily Dara, Loren Laine
UNLABELLED: The appropriate interval between ligation sessions for treatment of esophageal variceal bleeding is uncertain. The optimal interval would provide variceal eradication as rapidly as possible to lessen early rebleeding while minimizing ligation-induced adverse events. We randomly assigned patients hospitalized with acute esophageal variceal bleeding who had successful ligation at presentation to repeat ligation at 1-week or 2-week intervals. Beta-blocker therapy was also prescribed...
August 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Holly Rochefort, Lea Matsuoka, Konstantinos Chouliaras, Didi Mwengela, James Buxbaum, Sophoclis P Alexopoulos
Endoscopic retrograde cholangiopancreatography (ERCP) is frequently used to clear the common bile duct (CBD) in patients with choledocholithiasis. While a single ERCP is usually effective, many patients undergo multiple ERCP attempts before cholecystectomy. Here we sought to identify preoperative factors predictive of surgical complexity beyond routine laparoscopic cholecystectomy after ERCP. Data were prospectively collected for all ERCPs between September 2010 and February 2012 at a public academic medical center including demographics, indication, stone presence, CBD diameter, sphincterotomy, stent placement, and ERCP number...
February 2016: American Surgeon
Shou-Jiang Tang, Andreas S Vilmann, Adrian Saftoiu, Wanmei Wang, Costin Teodor Streba, Peter P Fink, Michael Griswold, Ruonan Wu, Christoph F Dietrich, Christian Jenssen, Michael Hocke, Marcus Kantowski, Jürgen Pohl, Paul Fockens, Jouke T Annema, Erik H F M van der Heijden, Roald Flesland Havre, Khanh Do-Cong Pham, Rastislav Kunda, Pierre H Deprez, Jinga Mariana, Enrique Vazquez-Sequeiros, Alberto Larghi, Elisabetta Buscarini, Pietro Fusaroli, Maor Lahav, Rajesh Puri, Pramod Kumar Garg, Malay Sharma, Fauze Maluf-Filho, Anand Sahai, William R Brugge, Linda S Lee, Harry R Aslanian, Andrew Y Wang, Vanessa M Shami, Arnold Markowitz, Ali A Siddiqui, Girish Mishra, James M Scheiman, Gerard Isenberg, Uzma D Siddiqui, Raj J Shah, James Buxbaum, Rabindra R Watson, Field F Willingham, Manoop S Bhutani, Michael J Levy, Cynthia Harris, Michael B Wallace, Christian Pállson Nolsøe, Torben Lorentzen, Niels Bang, Sten Mellerup Sørensen, Odd Helge Gilja, Mirko D'Onofrio, Fabio Piscaglia, Norbert Gritzmann, Maija Radzina, Zeno Adrian Sparchez, Paul S Sidhu, Simon Freeman, Timothy C McCowan, Cyrillo Rodrigues de Araujo, Akash Patel, Mohammad Adel Ali, Garth Campbell, Edward Chen, Peter Vilmann
BACKGROUND AND AIMS: EUS-guided FNA or biopsy sampling is widely practiced. Optimal sonographic visualization of the needle is critical for image-guided interventions. Of the several commercially available needles, bench-top testing and direct comparison of these needles have not been done to reveal their inherent echogenicity. The aims are to provide bench-top data that can be used to guide clinical applications and to promote future device research and development. METHODS: Descriptive bench-top testing and comparison of 8 commonly used EUS-FNA needles (all size 22 gauge): SonoTip Pro Control (Medi-Globe); Expect Slimline (Boston Scientific); EchoTip, EchoTip Ultra, EchoTip ProCore High Definition (Cook Medical); ClearView (Conmed); EZ Shot 2 (Olympus); and BNX (Beacon Endoscopic), and 2 new prototype needles, SonoCoat (Medi-Globe), coated by echogenic polymers made by Encapson...
September 2016: Gastrointestinal Endoscopy
Ben L Da, Ira A Shulman, Christianne Joy Lane, James Buxbaum
OBJECTIVE: The diagnosis of acute pancreatitis (AP) is defined as a constellation of abnormal pancreatic enzymes, imaging, and characteristic pain. The origin and clinical significance of isolated hyperlipasemia is unclear. METHODS: We prospectively evaluated patients with serum lipase level greater than 3 times the upper limit of normal (ULN) admitted to Los Angeles County Hospital from October 2014 to April 2015. Patients were identified by a daily laboratory query used to support an ongoing randomized trial of goal-directed therapy for AP (NCT 01761539)...
July 2016: Pancreas
Niraj Jani, James Buxbaum
Autoimmune pancreatitis (AIP) is part of a systemic fibrosclerotic process characterized by lymphoplasmacytic infiltrate with immunoglobulin G subtype-4 (IgG4) positive cells. It characteristically presents with biliary obstruction due to mass-like swelling of the pancreas. Frequently AIP is accompanied by extra-pancreatic manifestations including retroperitoneal fibrosis, thyroid disease, and salivary gland involvement. Auto-antibodies, hypergammaglobulemia, and prompt resolution of pancreatic and extrapancreatic findings with steroids signify its autoimmune nature...
November 6, 2015: World Journal of Gastrointestinal Pharmacology and Therapeutics
Stephan J Sanders, Xin He, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Kaitlin E Samocha, A Ercument Cicek, Michael T Murtha, Vanessa H Bal, Somer L Bishop, Shan Dong, Arthur P Goldberg, Cai Jinlu, John F Keaney, Lambertus Klei, Jeffrey D Mandell, Daniel Moreno-De-Luca, Christopher S Poultney, Elise B Robinson, Louw Smith, Tor Solli-Nowlan, Mack Y Su, Nicole A Teran, Michael F Walker, Donna M Werling, Arthur L Beaudet, Rita M Cantor, Eric Fombonne, Daniel H Geschwind, Dorothy E Grice, Catherine Lord, Jennifer K Lowe, Shrikant M Mane, Donna M Martin, Eric M Morrow, Michael E Talkowski, James S Sutcliffe, Christopher A Walsh, Timothy W Yu, David H Ledbetter, Christa Lese Martin, Edwin H Cook, Joseph D Buxbaum, Mark J Daly, Bernie Devlin, Kathryn Roeder, Matthew W State
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing...
September 23, 2015: Neuron
Robert A Kozol, Holly N Cukier, Bing Zou, Vera Mayo, Silvia De Rubeis, Guiqing Cai, Anthony J Griswold, Patrice L Whitehead, Jonathan L Haines, John R Gilbert, Michael L Cuccaro, Eden R Martin, James D Baker, Joseph D Buxbaum, Margaret A Pericak-Vance, Julia E Dallman
Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1-2% of children and adults, and is characterized by deficits in verbal and non-verbal communication, and social interactions, as well as the presence of repetitive behaviors and/or stereotyped interests. ASD is clinically and etiologically heterogeneous, with a strong genetic component. Here, we present functional data from syngap1 and shank3 zebrafish loss-of-function models of ASD...
July 15, 2015: Human Molecular Genetics
Arthur Yan, Alex Shindel, James Buxbaum
No abstract text is available yet for this article.
May 2015: Gastrointestinal Endoscopy
Gary W Beecham, Dennis W Dickson, William K Scott, Eden R Martin, Gerard Schellenberg, Karen Nuytemans, Eric B Larson, Joseph D Buxbaum, John Q Trojanowski, Vivianna M Van Deerlin, Howard I Hurtig, Deborah C Mash, Thomas G Beach, Juan C Troncoso, Olga Pletnikova, Matthew P Frosch, Bernardino Ghetti, Tatiana M Foroud, Lawrence S Honig, Karen Marder, Jean Paul Vonsattel, Samuel M Goldman, Harry V Vinters, Owen A Ross, Zbigniew K Wszolek, Liyong Wang, Derek M Dykxhoorn, Margaret A Pericak-Vance, Thomas J Montine, James B Leverenz, Ted M Dawson, Jeffery M Vance
OBJECTIVE: To minimize pathologic heterogeneity in genetic studies of Parkinson disease (PD), the Autopsy-Confirmed Parkinson Disease Genetics Consortium conducted a genome-wide association study using both patients with neuropathologically confirmed PD and controls. METHODS: Four hundred eighty-four cases and 1,145 controls met neuropathologic diagnostic criteria, were genotyped, and then imputed to 3,922,209 variants for genome-wide association study analysis...
March 10, 2015: Neurology
Thomas Kelly, James Buxbaum
Gastrointestinal symptoms of cystic fibrosis are the most important non-pulmonary manifestations of this genetic illness. Pancreatic manifestations include acute and chronic pancreatitis as well as pancreas insufficiency resulting in malnutrition. Complications in the gastrointestinal lumen are diverse and include distal intestinal obstruction syndrome (DIOS), meconium ileus, intussusception, and constipation; biliary tract complications include focal biliary cirrhosis and cholangiectasis. The common pathophysiology is the inspissation of secretions in the hollow structures of the gastrointestinal tract...
July 2015: Digestive Diseases and Sciences
James Buxbaum, Nancy Nguyen, Sujit Kulkarni, Suzanne Palmer, Adupa Rao, Robert Selby
BACKGROUND: As the survival of cystic fibrosis patients improves due to better treatment of its pulmonary manifestations, the management of hepatobiliary complications becomes increasingly vital. While focal biliary cirrhosis is common, large duct manifestations are less frequently encountered. METHODS: We prospectively evaluated cases of large bile duct disease in a large adult cystic fibrosis practice at the Keck Hospital of the University of Southern California...
June 2015: Digestive Diseases and Sciences
Li-San Wang, Adam C Naj, Robert R Graham, Paul K Crane, Brian W Kunkle, Carlos Cruchaga, Josue D Gonzalez Murcia, Lisa Cannon-Albright, Clinton T Baldwin, Henrik Zetterberg, Kaj Blennow, Walter A Kukull, Kelley M Faber, Nicole Schupf, Maria C Norton, JoAnn T Tschanz, Ronald G Munger, Christopher D Corcoran, Ekaterina Rogaeva, Chiao-Feng Lin, Beth A Dombroski, Laura B Cantwell, Amanda Partch, Otto Valladares, Hakon Hakonarson, Peter St George-Hyslop, Robert C Green, Alison M Goate, Tatiana M Foroud, Regina M Carney, Eric B Larson, Timothy W Behrens, John S K Kauwe, Jonathan L Haines, Lindsay A Farrer, Margaret A Pericak-Vance, Richard Mayeux, Gerard D Schellenberg, Marilyn S Albert, Roger L Albin, Liana G Apostolova, Steven E Arnold, Robert Barber, Michael Barmada, Lisa L Barnes, Thomas G Beach, James T Becker, Gary W Beecham, Duane Beekly, David A Bennett, Eileen H Bigio, Thomas D Bird, Deborah Blacker, Bradley F Boeve, James D Bowen, Adam Boxer, James R Burke, Joseph D Buxbaum, Nigel J Cairns, Chuanhai Cao, Chris S Carlson, Steven L Carroll, Helena C Chui, David G Clark, David H Cribbs, Elizabeth A Crocco, Charles DeCarli, Steven T DeKosky, F Yesim Demirci, Malcolm Dick, Dennis W Dickson, Ranjan Duara, Nilufer Ertekin-Taner, Kenneth B Fallon, Martin R Farlow, Steven Ferris, Matthew P Frosch, Douglas R Galasko, Mary Ganguli, Marla Gearing, Daniel H Geschwind, Bernardino Ghetti, John R Gilbert, Jonathan D Glass, Neill R Graff-Radford, John H Growdon, Ronald L Hamilton, Kara L Hamilton-Nelson, Lindy E Harrell, Elizabeth Head, Lawrence S Honig, Christine M Hulette, Bradley T Hyman, Gail P Jarvik, Gregory A Jicha, Lee-Way Jin, Gyungah Jun, Gyungah Jun, M Ilyas Kamboh, Anna Karydas, Jeffrey A Kaye, Ronald Kim, Edward H Koo, Neil W Kowall, Joel H Kramer, Frank M LaFerla, James J Lah, James B Leverenz, Allan I Levey, Gei Li, Andrew P Lieberman, Oscar L Lopez, Kathryn L Lunetta, Constantine G Lyketsos, Wendy J Mack, Daniel C Marson, Eden R Martin, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Ann C McKee, W Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, Thomas J Montine, John C Morris, Jill R Murrell, John M Olichney, Joseph E Parisi, William Perry, Elaine Peskind, Ronald C Petersen, Aimee Pierce, Wayne W Poon, Huntington Potter, Joseph F Quinn, Ashok Raj, Murray Raskind, Eric M Reiman, Barry Reisberg, Christiane Reitz, John M Ringman, Erik D Roberson, Howard J Rosen, Roger N Rosenberg, Mary Sano, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Rudolph E Tanzi, Tricia A Thornton-Wells, John Q Trojanowski, Juan C Troncoso, Debby W Tsuang, Vivianna M Van Deerlin, Linda J Van Eldik, Badri N Vardarajan, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Jennifer Williamson, Sarah Wishnek, Randall L Woltjer, Clinton B Wright, Steven G Younkin, Chang-En Yu, Lei Yu
IMPORTANCE: Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States. OBJECTIVE: To determine the frequency of the APP A673T variant in a large group of elderly cognitively normal controls and AD cases from the United States and in 2 case-control cohorts from Sweden...
February 2015: JAMA Neurology
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