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Yuji Itoh, Daniel Petkovsek, Peter K Kaiser, Rishi P Singh, Justis P Ehlers
BACKGROUND AND OBJECTIVE: To assess the relationship between spectral-domain optical coherence tomography (SD-OCT) features and functional outcomes for diabetic macular edema (DME) undergoing treatment with intravitreal bevacizumab (Avastin; Genentech, South San Francisco, CA). PATIENTS AND METHODS: Institutional review board-approved, retrospective, consecutive case series of eyes receiving intravitreal bevacizumab (1.25 mg) for DME. SD-OCT features were evaluated and correlated with functional response to anti-vascular endothelial growth factor (VEGF) therapy...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Toke Bek, Anders Heijl
No abstract text is available yet for this article.
November 2016: Acta Ophthalmologica
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L Mitchell, Deborah A Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F Michael Pope, Peter H Byers, Johannes Zschocke
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition...
September 27, 2016: American Journal of Human Genetics
Heléne E K Sundelin, Olof Stephansson, Kari Johansson, Jonas F Ludvigsson
INTRODUCTION: An increased risk of preterm birth in women with Joint Hypermobility Syndrome (JHS) or Ehlers-Danlos Syndrome (EDS) is suspected. MATERIAL AND METHODS: In this nationwide cohort study from 1997 through 2011, women with either JHS or EDS or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby 314 singleton births to women with JHS/EDS before delivery were identified. These births were compared with 1,247,864 singleton births to women without a diagnosis of JHS/EDS...
October 14, 2016: Acta Obstetricia et Gynecologica Scandinavica
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Giulia Carini, Valeria Cinquina, Nicola Chiarelli, Silvia Majore, Marina Colombi, Marco Castori
Filamin A is an X-linked, ubiquitous actin-binding protein whose mutations are associated to multiple disorders with limited genotype-phenotype correlations. While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The term "Ehlers-Danlos syndrome (EDS) with periventricular heterotopias" has been used in females with neurological, cardiovascular, integument and joint manifestations, but this nosology is still a matter of debate...
October 14, 2016: American Journal of Medical Genetics. Part A
Nicole Ben Salem, Fabian H Leendertz, Bernhard Ehlers
We identified with PCR and sequencing the full genomes of the recently discovered Pan troglodytes verus polyomavirus 8 and Piliocolobus badius polyomavirus 2 in a western chimpanzee and a western red colobus free-ranging in Taï National Park of Côte d'Ivoire.
October 13, 2016: Genome Announcements
Graham H Bothamley, Cordula Ehlers, Irina Salonka, Alena Skrahina, Angels Orcau, Luigi R Codecasa, Maurizio Ferrarese, Dragica Pesut, Ivan Solovic, Andrii Dudnyk, Luis Anibarro, Claudia Denkinger, Lorenzo Guglielmetti, Inge Muylle, Marco Confalonieri
BACKGROUND: Objectives: To determine whether the incidence of tuberculosis with pregnancy is more common than would be expected from the crude birth rate; to see whether there is significant delay in the diagnosis of tuberculosis during pregnancy. METHOD: Design: A cross-sectional survey. SETTING: 13 tuberculosis clinics within different European countries and the USA. POPULATION/SAMPLE: All patients with tuberculosis seen at these clinics for a period > 1 year...
October 12, 2016: BMC Pregnancy and Childbirth
Diane K Ehlers, Jason Fanning, Elizabeth A Awick, Arthur F Kramer, Edward McAuley NCT01472744.
2016: PloS One
Estibaliz Arce, Michael D Ehlers
No abstract text is available yet for this article.
October 5, 2016: Clinical Pharmacology and Therapeutics
Katie M Hallahan, Brian Cost, Jeff M Goshe, William J Dupps, Sunil K Srivastava, Justis P Ehlers
PURPOSE: To correlate intraoperative interface fluid dynamics during Descemet stripping automated endothelial keratoplasty (DSAEK) surgery using intraoperative optical coherence tomography (iOCT) in the PIONEER (Prospective Intraoperative and Perioperative Ophthalmic ImagiNg with Optical CohEncE TomogRaphy) study with postoperative outcomes. DESIGN: Prospective consecutive, interventional, comparative case series PARTICIPANTS: One hundred and seventy-eight eyes of 173 patients undergoing DSAEK from the Cole Eye Institute, Cleveland, USA...
October 1, 2016: American Journal of Ophthalmology
Tony Chung Tung Lo, Stephen Tung Yeung, Sujin Lee, Kira Skavinski, Solomon Liao
OBJECTIVE: Ehlers-Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers-Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. CASE REPORT: A 27-year-old Caucasian female with a history of Ehlers-Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions...
2016: Journal of Pain Research
Matthew J Eagleton
BACKGROUND: Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels. Patients with these defects frequently present at a young age with spontaneous arterial complications involving the medium-sized arteries. Complications involving the hollow organs, such as spontaneous colonic perforation, are observed as well...
September 26, 2016: Journal of Vascular Surgery
Christian Lerner, Roland Jakob-Roetne, Bernd Buettelmann, Andreas Ehler, Markus Rudolph, Rosa María Rodríguez Sarmiento
A fragment screening approach designed to target specifically the S-adenosyl-l-methionine pocket of catechol O-methyl transferase allowed the identification of structurally related fragments of high ligand efficiency and with activity on the described orthogonal assays. By use of a reliable enzymatic assay together with X-ray crystallography as guidance, a series of fragment modifications revealed an SAR and, after several expansions, potent lead compounds could be obtained. For the first time nonphenolic and small low nanomolar potent, SAM competitive COMT inhibitors are reported...
October 14, 2016: Journal of Medicinal Chemistry
A Fikree, R Aktar, J K Morris, R Grahame, C H Knowles, Q Aziz
BACKGROUND: Patients with Ehlers-Danlos syndrome-hypermobility type (EDS-HT) have increased prevalence of gastrointestinal (GI) symptoms, particularly reflux and dyspepsia. EDS-HT is associated with dysautonomia, psychopathology, and chronic pain which can be associated with GI symptoms. The association between GI symptoms and EDS-HT in a 'non-patient' population and the effect of the above-mentioned factors has never been studied. METHODS: In a cross sectional study, a hypermobility questionnaire was used to screen university students; further clinical examination established the diagnosis of EDS-HT...
September 28, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
R Lee, J Yuan, E Ehler
No abstract text is available yet for this article.
October 1, 2016: International Journal of Radiation Oncology, Biology, Physics
Leah S Richmond-Rakerd, Jacqueline M Otto, Wendy S Slutske, Cindy L Ehlers, Kirk C Wilhelmsen, Ian R Gizer
INTRODUCTION: Tobacco use is associated with variation at the 15q25 gene cluster and the Cytochrome P450 (CYP) genes CYP2A6 and CYP2B6. Despite the variety of outcomes associated with these genes, few studies have adopted a data-driven approach to defining tobacco use phenotypes for genetic association analyses. We used factor analysis to generate a tobacco use measure, explored its incremental validity over a simple indicator of tobacco involvement: cigarettes per day (CPD), and tested both phenotypes in a genetic association study...
September 23, 2016: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
S M C George, A Vandersteen, E Nigar, D J P Ferguson, E J Topham, F M Pope
Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is either autosomal dominant or recessive. Previously grouped into 11 different subtypes, with increasing knowledge of the underlying molecular defects, it was reclassified in 1997 into 6 major groups, with type VIII excluded from this classification. Type VIII EDS is a very rare subtype, characterized by severe, early-onset periodontitis, skin fragility and abnormal scarring...
October 2016: Clinical and Experimental Dermatology
Pearl K Jones, Brett H Shaw, Satish R Raj
Postural tachycardia syndrome (POTS) is a multifactorial clinical syndrome defined by an increase in heart rate of ≥30 bpm on standing from supine position (or ≥40 bpm in children). It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve when in supine position. Patients often have additional symptoms including severe fatigue and difficulty concentrating. There are several possible pathophysiologic mechanisms including hypovolaemia, small-fibre peripheral neuropathy and hyperadrenergic states...
September 22, 2016: Practical Neurology
Mao Li, Marijana Radić Stojković, Martin Ehlers, Elio Zellermann, Ivo Piantanida, Carsten Schmuck
Peptides that adopt β-helix structures are predominantly found in transmembrane protein domains or in the lipid bilayer of vesicles. Constructing a β-helix structure in pure water has been considered difficult without the addition of membrane mimics. Herein, we report such an example; peptide 1 self-assembles into a supramolecular β-helix in pure water based on charge interactions between the individual peptides. Peptide 1 further showed intriguing transitions from small particles to helical fibers in a time-dependent process...
October 10, 2016: Angewandte Chemie
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