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https://www.readbyqxmd.com/read/27920664/investigation-of-snp-rs2060546-immediately-upstream-to-ntn4-in-a-danish-gilles-de-la-tourette-syndrome-cohort
#1
Shanmukha S Padmanabhuni, Rayan Houssari, Ann-Louise Esserlind, Jes Olesen, Thomas M Werge, Thomas F Hansen, Birgitte Bertelsen, Fotis Tsetsos, Peristera Paschou, Zeynep Tümer
Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. GTS is a complex disorder, with environmental factors and several genes involved. Although variations within a few genes such as AADAC, NRXN1, SLITRK1, HDC, and IMMP2L have been tentatively associated with GTS (in a small number of patients), the causative genes underlying GTS pathophysiology remain unknown. In a previous genome-wide association study (GWAS) a single nucleotide polymorphism (SNP, rs2060546) near the Netrin-4 (NTN4 - MIM 610401) gene was shown to be associated with GTS [odds ratio (OR) = 1...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27911167/recommendations-for-a-nomenclature-system-for-reporting-methylation-aberrations-in-imprinted-domains
#2
David Monk, Joannella Morales, Johan T den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer
The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs). However, comparisons between these studies are routinely hampered by the lack of consistency in reporting sites of methylation evaluated. To avoid confusion surrounding nomenclature, special care is needed to communicate results accurately, especially between scientists and other health care professionals...
December 2, 2016: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/27884419/a-novel-deep-inspiration-maneuver-for-difficult-transseptal-puncture
#3
Tolga Aksu, Tumer Erdem Guler, Kivanc Yalin, Sukriye Ebru Golcuk, Kazim Serhan Ozcan, Niyazi Guler
Transseptal puncture (TSP) may not be possible in cases of an elastic, aneurysmal, or thickened interatrial septum (IAS). During deep inspiration (DI), the chest wall expands and the diaphragm descends. This makes intrapleural pressure to become more negative, which leads to movement of the IAS to the right side. The aim of this study was to verify prospectively the feasibility, safety, and outcome of DI associated with conventional TSP technique in patients with challenging IAS anatomy. From September 2012 to May 2016, 224 patients underwent TSP due to different indications...
November 1, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27875792/investigation-of-cd40-gene-rs4810485-and-rs1883832-mutations-in-patients-with-recurrent-aphthous-stomatitis
#4
Serbulent Yigit, Akin Tekcan, Aydin Rustemoglu, Mehmet Kemal Tumer, Goknur Kalkan, Kaan Yerliyurt
OBJECTIVES: Recurrent aphthous stomatitis (RAS) is a common painful disorder affecting oral health, mucosa and overall quality of life. The etiopathogenesis of RAS remains unclear. RAS shows a large genetic diversity among the patients. In present study, we investigated whether CD40 gene rs4810485 and rs1883832 are associated with RAS and its clinical findings in Turkish patients. MATERIALS AND METHODS: Genomic DNA obtained from 387 individuals (160 patients with RAS and 227 healthy controls) were used in the study...
November 5, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/27865293/septal-ablation-for-hypertrophic-obstructive-cardiomyopathy-transcoronary-and-endocardial-approach
#5
REVIEW
Tolga Aksu, Tumer Guler, Kivanc Yalin, Sukriye Ebru Golcuk, Kazim Ozcan
Septal reduction therapy is the gold standard treatment method for symptomatic, hypertrophic obstructive cardiomyopathy. Although surgical myectomy is a well-established and effective technique with decades of experience in its application, use of transcoronary alcohol septal ablation has increased precipitously owing to the less-invasive nature of the procedure. Moreover, endocardial septal ablation therapy is a relatively newly defined modality, and outcomes of the procedure are not clearly elucidated yet...
November 2016: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/27820421/cyp1b1-mutations-in-individuals-with-primary-congenital-glaucoma-and-residing-in-denmark
#6
Karen Grønskov, Alba Redó-Riveiro, Lisbeth Sandfeld, Nathalie Zibrandtsen, Pernille Harris, Daniella Bach-Holm, Zeynep Tümer
PURPOSE OF THE STUDY: Primary congenital glaucoma (PCG OMIM 231300) can be caused by pathogenic sequence variations in cytochrome P450, subfamily 1, polypeptide 1 (CYP1B1). The purpose of this study was to investigate the contribution of sequence variations in CYP1B1 in a cohort of individuals with PCG residing in Denmark. METHODS: The study included 37 unrelated individuals with PCG. Individuals were investigated for CYP1B1 mutations by Sanger sequencing of polymerase chain reaction products using BigDye terminators and capillary electrophoresis...
December 2016: Journal of Glaucoma
https://www.readbyqxmd.com/read/27639428/toxicity-of-ricin-a-chain-is-reduced-in-mammalian-cells-by-inhibiting-its-interaction-with-the-ribosome
#7
Amanda E Jetzt, Xiao-Ping Li, Nilgun E Tumer, Wendie S Cohick
Ricin is a potent ribotoxin that is considered a bioterror threat due to its ease of isolation and possibility of aerosolization. In yeast, mutation of arginine residues away from the active site results in a ricin toxin A chain (RTA) variant that is unable to bind the ribosome and exhibits reduced cytotoxicity. The goal of the present work was to determine if these residues contribute to ribosome binding and cytotoxicity of RTA in mammalian cells. The RTA mutant R193A/R235A did not interact with mammalian ribosomes, while a G212E variant with a point mutation near its active site bound ribosomes similarly to wild-type (WT) RTA...
November 1, 2016: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/27609434/role-of-endocardial-septal-ablation-in-the-treatment-of-hypertrophic-obstructive-cardiomyopathy
#8
Tolga Aksu, Tümer Erdem Güler, Kıvanç Yalın, Şükriye Ebru Gölcük, Kazım Serhan Özcan
Septal reduction therapy is accepted as a first therapeutic option for symptomatic drug-resistant hypertrophic obstructive cardiomyopathy (HOCM). Although, surgical septal myectomy is the gold standard method, alcohol septal ablation is a well-studied alternative approach in the patients with suitable anatomy. Endocardial septal ablation (ESA) therapy was relatively new defined modality and outcomes of the procedure were not clearly elucidated yet. We aimed to review the clinical aspects of ESA procedure and provide some historical background...
September 2016: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/27601976/ts-eurotrain-a-european-wide-investigation-and-training-network-on-the-etiology-and-pathophysiology-of-gilles-de-la-tourette-syndrome
#9
Natalie J Forde, Ahmad S Kanaan, Joanna Widomska, Shanmukha S Padmanabhuni, Ester Nespoli, John Alexander, Juan I Rodriguez Arranz, Siyan Fan, Rayan Houssari, Muhammad S Nawaz, Francesca Rizzo, Luca Pagliaroli, Nuno R Zilhäo, Tamas Aranyi, Csaba Barta, Tobias M Boeckers, Dorret I Boomsma, Wim R Buisman, Jan K Buitelaar, Danielle Cath, Andrea Dietrich, Nicole Driessen, Petros Drineas, Michelle Dunlap, Sarah Gerasch, Jeffrey Glennon, Bastian Hengerer, Odile A van den Heuvel, Cathrine Jespersgaard, Harald E Möller, Kirsten R Müller-Vahl, Thaïra J C Openneer, Geert Poelmans, Petra J W Pouwels, Jeremiah M Scharf, Hreinn Stefansson, Zeynep Tümer, Dick J Veltman, Ysbrand D van der Werf, Pieter J Hoekstra, Andrea Ludolph, Peristera Paschou
Gilles de la Tourette Syndrome (GTS) is characterized by the presence of multiple motor and phonic tics with a fluctuating course of intensity, frequency, and severity. Up to 90% of patients with GTS present with comorbid conditions, most commonly attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD), thus providing an excellent model for the exploration of shared etiology across disorders. TS-EUROTRAIN (FP7-PEOPLE-2012-ITN, Grant Agr.No. 316978) is a Marie Curie Initial Training Network (http://ts-eurotrain...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27600507/conserved-arginines-at-the-p-protein-stalk-binding-site-and-the-active-site-are-critical-for-ribosome-interactions-of-shiga-toxins-but-do-not-contribute-to-differences-in-the-affinity-of-the-a1-subunits-for-the-ribosome
#10
Debaleena Basu, Jennifer N Kahn, Xiao-Ping Li, Nilgun E Tumer
The A1 subunits of Shiga toxin 1 (Stx1A1) and Shiga toxin 2 (Stx2A1) interact with the conserved C termini of ribosomal-stalk P-proteins to remove a specific adenine from the sarcin/ricin loop. We previously showed that Stx2A1 has higher affinity for the ribosome and higher catalytic activity than Stx1A1. To determine if conserved arginines at the distal face of the active site contribute to the higher affinity of Stx2A1 for the ribosome, we mutated Arg172, Arg176, and Arg179 in both toxins. We show that Arg172 and Arg176 are more important than Arg179 for the depurination activity and toxicity of Stx1A1 and Stx2A1...
December 2016: Infection and Immunity
https://www.readbyqxmd.com/read/27596958/induced-pluripotent-stem-cell-derived-neurons-for-the-study-of-spinocerebellar-ataxia-type-3
#11
Susanne K Hansen, Tina C Stummann, Helena Borland, Lis F Hasholt, Zeynep Tümer, Jørgen E Nielsen, Mikkel A Rasmussen, Troels T Nielsen, Justus C A Daechsel, Karina Fog, Poul Hyttel
The neurodegenerative disease spinocerebellar ataxia type 3 (SCA3) is caused by a CAG-repeat expansion in the ATXN3 gene. In this study, induced pluripotent stem cell (iPSC) lines were established from two SCA3 patients. Dermal fibroblasts were reprogrammed using an integration-free method and the resulting SCA3 iPSCs were differentiated into neurons. These neuronal lines harbored the disease causing mutation, expressed comparable levels of several neuronal markers and responded to the neurotransmitters, glutamate/glycine, GABA and acetylcholine...
August 16, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27585961/diagnosis-and-management-of-silver-russell-syndrome-first-international-consensus-statement
#12
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Jet Bliek, Ana P M Canton, Krystyna H Chrzanowska, Justin H Davies, Renuka P Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C S Hokken-Koelega, Alexander A Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E Moore, Philip G Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D Harbison, I Karen Temple, Deborah J G Mackay, Irène Netchine
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype...
September 2, 2016: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/27584283/fructose-consumption-does-not-worsen-bone-deficits-resulting-from-high-fat-feeding-in-young-male-rats-1127-board-1-june-1-3-15-pm-5-15-pm
#13
Joshua F Yarrow, Hale Z Toklu, Alex Balaez, Ean G Phillips, Dana M Otzel, Cong Chen, Thomas J Wronski, J Ignacio Aguirre, Yasemin Sakarya, Nihal Tumer, Phillip J Scarpace
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/27566694/unanswered-questions-in-complex-fractionated-atrial-electrogram-ablation
#14
REVIEW
Tolga Aksu, Tümer Erdem Guler, Kivanc Yalin, Ali Oto
Pulmonary vein isolation has been accepted as potential target for ablation of paroxysmal atrial fibrillation (AF) given that the pulmonary veins are the main source of AF triggers. However, ablation strategies for persistent AF are less well defined. Mapping and ablation of complex fractionated atrial electrograms (CFAEs) is one strategy that has been proposed as a strategy for substrate modification although there is no consensus on their definition and procedural end points. Results of clinical studies have been conflicting...
November 2016: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/27552085/congenital-microphthalmia-anophthalmia-and-coloboma-among-live-births-in-denmark
#15
Laura Roos, Hanne Jensen, Karen Grønskov, René Holst, Zeynep Tümer
PURPOSE: This study aims to quantify the occurrence of the congenital eye malformations anophthalmia (AO), microphthalmia (MO) and coloboma among liveborn infants in Denmark, and to estimate the rate of chromosomal abnormalities in this group of patients. METHODS: A cohort of patients born in 1995-2012 with diagnoses of MO/AO or coloboma was identified from the Danish National Patient Registry (DNPR), and their ocular and extra-ocular diagnoses were reviewed. In order to assess the occurrence of chromosomal abnormalities in the cohort, the data were cross-referenced with the Danish Cytogenetic Central Registry (DCCR)...
October 2016: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/27529277/spices-for-prevention-and-treatment-of-cancers
#16
REVIEW
Jie Zheng, Yue Zhou, Ya Li, Dong-Ping Xu, Sha Li, Hua-Bin Li
Spices have been widely used as food flavorings and folk medicines for thousands of years. Numerous studies have documented the antioxidant, anti-inflammatory and immunomodulatory effects of spices, which might be related to prevention and treatment of several cancers, including lung, liver, breast, stomach, colorectum, cervix, and prostate cancers. Several spices are potential sources for prevention and treatment of cancers, such as Curcuma longa (tumeric), Nigella sativa (black cumin), Zingiber officinale (ginger), Allium sativum (garlic), Crocus sativus (saffron), Piper nigrum (black pepper) and Capsicum annum (chili pepper), which contained several important bioactive compounds, such as curcumin, thymoquinone, piperine and capsaicin...
August 12, 2016: Nutrients
https://www.readbyqxmd.com/read/27511346/impact-of-antimicrobial-drug-restrictions-on-doctors-behaviors
#17
Oğuz Karabay, Salih Hoşoğlu, Ertuğrul Güçlü, Şerife Akalin, Fatma Aybala Altay, Emsal Aydin, Bahadır Ceylan, Aygül Çelik, İlhami Çelik, Tuna Demirdal, Keziban Demirli, Nurettin Erben, Ünal Erkorkmaz, Serpil Erol, Ömer Evirgen, İbak Gönen, Ayşe Ebru Güner, Tümer Güven, Ayten Kadanali, Mücahide Esra Koçoğlu, Ömer Faruk Kökoğlu, Abdulkadir Küçükbayrak, Fatma Sargin, Mahmut Sünnetçioğlu, Şebnem Şenol, Meltem İşikgöz Taşbakan, Recep Tekin, Vedat Turhan, Gürdal Yilmaz, Behiye Dede
BACKGROUND/AIM: Broad-spectrum antibiotics have become available for use only with the approval of infectious disease specialists (IDSs) since 2003 in Turkey. This study aimed to analyze the tendencies of doctors who are not disease specialists (non-IDSs) towards the restriction of antibiotics. MATERIALS AND METHODS: A questionnaire form was prepared, which included a total of 22 questions about the impact of antibiotic restriction (AR) policy, the role of IDSs in the restriction, and the perception of this change in antibiotic consumption...
2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/27508155/altered-potassium-atp-channel-signaling-in-mesenteric-arteries-of-old-high-salt-fed-rats
#18
Melissa A Whidden, Bilgen Basgut, Nataliya Kirichenko, Benedek Erdos, Nihal Tümer
PURPOSE: Both aging and the consumption of a high salt diet are associated with clear changes in the vascular system that can lead to the development of cardiovascular disease; however the mechanisms are not clearly understood. Therefore, we examined whether aging and the consumption of excess salt alters the function of potassium ATP-dependent channel signaling in mesenteric arteries. METHODS: Young (7 months) and old (29 months) Fischer 344 x Brown Norway rats were fed a control or a high salt diet (8% NaCl) for 12 days and mesenteric arteries were utilized for vascular reactivity measurements...
June 2016: Journal of Exercise Nutrition & Biochemistry
https://www.readbyqxmd.com/read/27495945/bone-shape-difference-between-control-and-osteochondral-defect-groups-of-the-ankle-joint
#19
N Tümer, L Blankevoort, M van de Giessen, M P Terra, P A de Jong, H Weinans, G J M Tuijthof, A A Zadpoor
OBJECTIVE: The etiology of osteochondral defects (OCDs), for which the ankle (talocrural) joint is one of the common sites, is not yet fully understood. In this study, we hypothesized that bone shape plays a role in development of OCDs. Therefore, we quantitatively compared the morphology of the talus and the distal tibia between an OCD group and a control group. METHODS: The shape variations of the talus and distal tibia were described separately by constructing two statistical shape models (SSMs) based on the segmentation of the bones from ankle computed tomography (CT) scans obtained from control (i...
August 3, 2016: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/27381195/caecum-location-in-laboratory-rats-and-mice-an-anatomical-and-radiological-study
#20
Murat Uysal, Serdar Savaş Gül, Serhat Karaman, Ufuk Tas, Hilal Irmak Sapmaz, Funda Uysal, Kursad Aytekin, Mehmet Kemal Tümer
Intraperitoneal (i.p.) injection is the most frequently used method for implementing parenteral therapies in rats and mice. Whether the caecum is located in the right caudal quadrant or left caudal quadrant in the abdominal cavity is not clear. For that reason, we have developed a method for identifying the location of the caecum in rats and mice and thus revealed the most reliable location for i.p. injection in these animals. Two hundred Wistar albino rats and 100 BALB/c mice were used. The location of the caecum was determined by revealing the intra-abdominal organs immediately following euthanasia, photographing the organs, and archiving the images...
July 4, 2016: Laboratory Animals
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