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Nataliya Di Donato, Ying Y Jean, A Murat Maga, Briana D Krewson, Alison B Shupp, Maria I Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A Willert, Agnieszka M Czaja, Rachel Johnson, Jessi A Stover, Steven Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimberly A Aldinger, Ghayda M Mirzaa, Anke Nissen, Karlla W Brigatti, Erik G Puffenberger, Kathleen J Millen, Kevin A Strauss, William B Dobyns, Carol M Troy, Robert N Jinks
Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from four unrelated families of diverse ethnic backgrounds. CRADD (also known as RAIDD) is a death-domain-containing adaptor protein that oligomerizes with PIDD and caspase-2 to initiate apoptosis...
October 18, 2016: American Journal of Human Genetics
Michael D Nissen
No abstract text is available yet for this article.
February 2016: Pathology
Silje Hovden, Marie Louise Jespersen, Peter H Nissen, Per Løgstrup Poulsen, Lars Rolighed, Søren A Ladefoged, Lars Rejnmark
Familial hypocalciuric hypercalcemia type 3 should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple neoplasia syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies and for the worry of being diagnosed with a cancer susceptibility syndrome.
October 2016: Clinical Case Reports
Maxwel Capsy Boga Ribeiro, Amanda Bueno de Araújo, Juverson Alves Terra-Júnior, Eduardo Crema, Nelson Adami Andreollo
Background: Surgical treatment of GERD by Nissen fundoplication is effective and safe, providing good results in the control of the disease. However, some authors have questioned the efficacy of this procedure and few studies on the long-term outcomes are available in the literature, especially in Brazil. Aim: To evaluate patients operated for gastro-esophageal reflux disease, for at least 10 years, by Nissen fundoplication. Methods: Thirty-two patients were interviewed and underwent upper digestive endoscopy, esophageal manometry, 24 h pH monitoring and barium esophagogram, before and after Nissen fundoplication...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Anders Nissen Bonde, Gregory Y H Lip, Anne-Lise Kamper, Emil L Fosbøl, Laila Staerk, Nicholas Carlson, Christian Torp-Pedersen, Gunnar Gislason, Jonas Bjerring Olesen
BACKGROUND AND PURPOSE: We sought to determine the risk of stroke/thromboembolism and bleeding associated with reduced renal function in patients with atrial fibrillation and the risk of stroke and bleeding associated with warfarin treatment in specific estimated glomerular filtration rate (eGFR) groups. METHODS: We conducted a register-based cohort study and included patients discharged with nonvalvular atrial fibrillation from 1997 to 2011 with available eGFR...
October 6, 2016: Stroke; a Journal of Cerebral Circulation
Steven E Nissen
No abstract text is available yet for this article.
October 18, 2016: Annals of Internal Medicine
Laila Staerk, Emil Loldrup Fosbøl, Gregory Y H Lip, Morten Lamberts, Anders Nissen Bonde, Christian Torp-Pedersen, Brice Ozenne, Thomas Alexander Gerds, Gunnar Hilmar Gislason, Jonas Bjerring Olesen
BACKGROUND: Non-vitamin K antagonist (VKA) oral anticoagulants (NOACs) are widely used as stroke prophylaxis in non-valvular atrial fibrillation (AF), but comparative data are sparse. PURPOSE: To compare dabigatran, rivaroxaban, and apixaban vs. VKA and the risk of stroke/thromboembolism (TE) and intracranial bleeding in AF. METHODS: Using Danish nationwide registries (2011-15), anticoagulant-naïve AF patients were identified when initiating VKA or an NOAC...
October 14, 2016: European Heart Journal
Alexander S Rosemurgy, Darrell Downs, Forat Swaid, Sharona B Ross
No abstract text is available yet for this article.
October 11, 2016: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
Alagappan Annamalai, Lauren Wisdom, Megan Herada, Mazen Nourredin, Walid Ayoub, Vinay Sundaram, Andrew Klein, Nicholas Nissen
Cirrhosis is a major cause of morbidity and mortality worldwide with liver transplantations as it only possible cure. In the face of a significant organ shortage many patients die waiting. A major complication of cirrhosis is the development of portal hypertension and ascites. The management of ascites has barely evolved over the last hundred years and includes only a few milestones in our treatment approach, but has overall significantly improved patient morbidity and survival. Our mainstay to ascites management includes changes in diet, diuretics, shunt procedures, and large volume paracentesis...
October 8, 2016: World Journal of Hepatology
Tetsuya Ishimaru, Masahiko Sugiyama, Mari Arai, Kaori Satoh, Chizue Uotani, Masataka Takahashi, Shohei Takami, Jun Fujishiro, Tadashi Iwanaka
AIM: Scoliosis, which is often associated with neurological impairment in children, sometimes makes it difficult to perform laparoscopic procedures. This study assessed the impact of scoliosis on performing laparoscopic Nissen fundoplication. METHODS: Medical records and radiographic examinations of patients who underwent laparoscopic Nissen fundoplication at a single institution from 2006 to 2015 were reviewed retrospectively. Patients' data on age at surgery, height, weight, duration of pneumoperitoneum, and amount of bleeding were collected...
October 11, 2016: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
Leif A Körte, Sebastian Blomeyer, Shari Heidemeyer, Jan Hendrick Nissen, Andreas Mix, Beate Neumann, Hans-Georg Stammler, Norbert W Mitzel
The doubly acid-functionalised aniline PhN[(CH2)3B(C6F5)2]2 shows rapidly exchanging boron acid groups at the central base function and is an active frustrated Lewis pair due to cooperative hydride binding by both Lewis acids. Here we report investigations on the effect of different substituents at the central nitrogen atom and on the effect of exchanging nitrogen by phosphorus. Treatment of diallyl-tert-butylaniline with one equivalent of HB(C6F5)2 led to formation of a seven-membered iminium hydridoborate ring; after mono-hydroboration the intermediately formed frustrated Lewis pair reacts with the second allylamine function under ring closure...
October 10, 2016: Dalton Transactions: An International Journal of Inorganic Chemistry
Brian Stegman, Mingyuan Shao, Stephen J Nicholls, Mohamed Elshazly, Leslie Cho, Peta King, Samir Kapadia, Murat Tuzcu, Steven E Nissen, Rishi Puri
BACKGROUND AND AIMS: High-intensity statin therapy (HIST) reduces cardiovascular events, however, sex-related differences in treatment effects are not well characterized. METHODS: A patient-level post hoc pooled analysis of 3 randomized trials utilizing serial coronary intravascular ultrasound was undertaken, testing the anti-atherosclerotic effects of HIST in coronary disease patients. Sex-related differences in changes (Δ) in coronary percent atheroma volume (PAV) were ascertained following 18-24 months of HIST (atorvastatin 80 mg or rosuvastatin 40 mg daily), and further characterized according to on-treatment lipid and lipoprotein levels...
September 15, 2016: Atherosclerosis
Paraskevas Gkolfakis, John Katsogridakis, Dimitrios Schizas, Ioannis S Papanikolaou
No abstract text is available yet for this article.
October 2016: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
Oral Ospanov, Almantas Maleckas, Akzhunus Orekeshova
BACKGROUND AND AIM: Established anti-reflux procedures such as fundoplications are less efficient in obese patients. The aim of this study was to investigate clinical effectiveness of the fundoplication combined with gastric greater curvature plication in the treatment of gastroesophageal reflux disease (GERD) in obese patients. MATERIALS AND METHODS: During the period from June 2010 to September 2014, patients operated for GERD with BMI from 30 to 39.9kg/m(2) were included into the prospective study...
September 20, 2016: Medicina
Mhd Belal Alsabek, Shawqi Arafat, Alaa Aldirani
BACHGROUND: Since the first laparoscopic cholecystectomy report in situs inversus totalis in 1991, the safety of this procedure has still been questionable. A few surgeons were preferred to perform an open cholecystectomy due to technical difficulties as well as various anatomical varieties that can be faced during surgery. CASE PRESENTATION: We report a case report of a 50 years old patient came with epigastric pain that radiated to her left shoulder, intermittent nausea, vomiting and bloating after some meals...
September 22, 2016: International Journal of Surgery Case Reports
C V Nissen, I M Heerfordt, S R Wiegell, C S Mikkelsen, H C Wulf
BACKGROUND: Photodynamic therapy (PDT) with methyl aminolevulinate (MAL) is highly effective for treating actinic keratosis (AKs) on the face/scalp, but less effective on the extremities. Insufficient accumulation of protoporphyrin IX (PpIX) may cause these inferior efficacy rates. However, it is possible to increase PpIX accumulation by extending MAL application time and/or pretreating the skin with curettage. OBJECTIVES: To investigate whether increased PpIX accumulation improves the effect of MAL-PDT for AKs in a randomized intraindividual study...
October 1, 2016: British Journal of Dermatology
Filip K Malinowski, Frederico Martins, Peter D Nissen, Edwin Barnes, Łukasz Cywiński, Mark S Rudner, Saeed Fallahi, Geoffrey C Gardner, Michael J Manfra, Charles M Marcus, Ferdinand Kuemmeth
Electron spins in gate-defined quantum dots provide a promising platform for quantum computation. In particular, spin-based quantum computing in gallium arsenide takes advantage of the high quality of semiconducting materials, reliability in fabricating arrays of quantum dots and accurate qubit operations. However, the effective magnetic noise arising from the hyperfine interaction with uncontrolled nuclear spins in the host lattice constitutes a major source of decoherence. Low-frequency nuclear noise, responsible for fast (10 ns) inhomogeneous dephasing, can be removed by echo techniques...
October 3, 2016: Nature Nanotechnology
Amy R Richardson, Dorothea C Lerman, Melissa A Nissen, Kally M Luck, Ashley E Neal, Shimin Bao, Loukia Tsami
Sight-word instruction can be a useful supplement to phonics-based methods under some circumstances. Nonetheless, few studies have evaluated the conditions under which pictures may be used successfully to teach sight-word reading. In this study, we extended prior research by examining two potential strategies for reducing the effects of overshadowing when using picture prompts. Five children with developmental disabilities and two typically developing children participated. In the first experiment, the therapist embedded sight words within pictures but gradually faded in the pictures as needed using a least-to-most prompting hierarchy...
September 30, 2016: Journal of Applied Behavior Analysis
Jens V Andersen, Sofie K Christensen, Blanca I Aldana, Jakob D Nissen, Heikki Tanila, Helle S Waagepetersen
Alterations in brain energy metabolism have been suggested to be of fundamental importance for the development of Alzheimer's disease (AD). However, specific changes in brain energetics in the early stages of AD are poorly known. The aim of this study was to investigate cerebral energy metabolism in the APPswe/PSEN1dE9 mouse prior to amyloid plaque formation. Acutely isolated cerebral cortical and hippocampal slices of 3-month-old APPswe/PSEN1dE9 and wild-type control mice were incubated in media containing [U-(13)C]glucose, [1,2-(13)C]acetate or [U-(13)C]glutamine, and tissue extracts were analyzed by mass spectrometry...
September 29, 2016: Neurochemical Research
Fuzeng Su, Cheng Zhang, Limu Ke, Zhi Wang, Yiliang Li, Huiling Li, Zhi Du
OBJECTIVE: To compare the efficacy and safety among laparoscopic Nissen, Toupet and Dor fundoplication in the treatment of hiatal hernia complicated with gastroesophageal reflux disease (GERD). METHODS: Clinical data of 276 patients of hiatal hernia complicated with GERD undergoing operation in our hospital from December 2012 to January 2015 were retrospectively analyzed, including 149 patients of laparoscopic Nissen fundoplication (Nissen group), 41 of laparoscopic Toupet fundoplication (Toupet group), and 86 patients of laparoscopic Dor fundoplication (Dor group)...
September 25, 2016: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
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