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Christian Rellstab, Stefan Zoller, Lorenz Walthert, Isabelle Lesur, Andrea R Pluess, René Graf, Catherine Bodénès, Christoph Sperisen, Antoine Kremer, Felix Gugerli
Testing how populations are locally adapted and predicting their response to their future environment is of key importance in view of climate change. Landscape genomics is a powerful approach to investigate genes and environmental factors involved in local adaptation. In a pooled amplicon sequencing approach of 94 genes in 71 populations, we tested if >3'500 single nucleotide polymorphisms (SNPs) in the three most common oak species in Switzerland (Quercus petraea, Q. pubescens, Q. robur) show an association with abiotic factors related to local topography, historical climate, and soil characteristics...
October 19, 2016: Molecular Ecology
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
October 19, 2016: American Journal of Medical Genetics. Part A
Christiane Al-Haddad, Maamoun Abdul Fattah, Karine Ismail, Ziad Bashshur
BACKGROUND AND OBJECTIVE: To detect changes in the choroidal layer at the macular area in amblyopic eyes. PATIENTS AND METHODS: A cross-sectional study of 50 amblyopic patients (20 strabismic and 30 anisometropic) and 50 controls was done. Cross-sectional images using enhanced depth optical coherence tomography (OCT) were taken. Thicknesses were measured subfoveally and at 1,500 µm nasally, temporally, inferiorly, and superiorly. Submacular corresponding choroidal areas were also computed...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Matthias Echternach, Fabian Burk, Michael Burdumy, Christian T Herbst, Marie Köberlein, Michael Döllinger, Bernhard Richter
OBJECTIVES/HYPOTHESIS: In professional classical singing, an even voice quality throughout the entire singing voice range is essential. Transitions between vocal registers (passaggio) are the technically most challenging aspects in classical singing. It is hypothesized that they are most affected by vocal fold mass lesions (VFML). STUDY DESIGN: Cohort study. METHODS: In this study, the effect of VFML on vocal fold vibration in the passaggio regions was analyzed in four female and three male singers suffering from organic dysphonia...
October 18, 2016: Laryngoscope
Lena-Marie Kortland, Anne Alfter, Oliver Bähr, Barbara Carl, Richard Dodel, Thomas M Freiman, Kristina Hubert, Kolja Jahnke, Susanne Knake, Felix von Podewils, Jens-Peter Reese, Uwe Runge, Christian Senft, Helmuth Steinmetz, Felix Rosenow, Adam Strzelczyk
OBJECTIVE: To provide first data on inpatient costs and cost-driving factors due to nonrefractory status epilepticus (NSE), refractory status epilepticus (RSE), and super-refractory status epilepticus (SRSE). METHODS: In 2013 and 2014, all adult patients treated due to status epilepticus (SE) at the university hospitals in Frankfurt, Greifswald, and Marburg were analyzed for healthcare utilization. RESULTS: We evaluated 341 admissions in 316 patients (65...
October 18, 2016: Epilepsia
Christian Schäfer, Tobias Paprotka, Ellen Heitzer, Mark Eccleston, Johannes Noe, Stefan Holdenrieder, Frank Diehl, Alain Thierry
Researchers working in industrial laboratories as well as in academic laboratories discussed topics related to the use of extracellular nucleic acids in different fields. These included areas like non-invasive prenatal diagnosis, the application of different methods for the analysis and characterization of patients with benign and malignant diseases and technical aspects associated with extracellular nucleic acids. In addition, the possibilities and chances for a cooperation of researchers working in different worlds, i...
2016: Advances in Experimental Medicine and Biology
Mareike Klinger-Strobel, Oliwia Makarewicz, Mathias W Pletz, Andreas Stallmach, Christian Lautenschläger
Biofilm formation, also known as microfouling, on indwelling medical devices such as catheters or prosthetic joints causes difficult to treat and recurrent infections. It is also the initial step for biocorrosion of surfaces in aquatic environment. An efficient prevention of microfouling is preferable but the development of antibiofilm surfaces is enormously challenging. Therefore, soda-lime, aluminosilicate, and three borosilicate glasses with different TiO2 and ZnO compositions were investigated on their feasibility to prevent biofilm formation by standardized in vitro biofilm assays using different pathogenic bacteria...
December 2016: Journal of Materials Science. Materials in Medicine
Ahmed E Othman, Thomas K Eigentler, Georg Bier, Christina Pfannenberg, Hans Bösmüller, Christian Thiel, Claus Garbe, Konstantin Nikolaou, Bernhard Klumpp
OBJECTIVE: To assess the appearance of gastrointestinal melanoma metastases on CT and PET/CT and evaluate the diagnostic value of CT and PET/CT compared with surgery and histopathology. METHODS: We retrospectively included 41 consecutive patients (aged 56.1 ± 13.5 years) with gastrointestinal melanoma metastases who underwent preoperative imaging (CT: all, PET/CT: n = 24) and metastasectomy. Two blinded radiologists assessed CT and PET/CT for gastrointestinal metastases and complications...
October 17, 2016: European Radiology
Christian Güldner, Isabell Diogo, Eva Bernd, Stephanie Dräger, Magis Mandapathil, Afshin Teymoortash, Hesham Negm, Thomas Wilhelm
Cone beam computed tomography (CBCT, syn. digital volume tomography = DVT) was introduced into ENT imaging more than 10 years ago. The main focus was on imaging of the paranasal sinuses and traumatology of the mid face. In recent years, it has also been used in imaging of chronic ear diseases (especially in visualizing middle and inner ear implants), but an exact description of the advantages and limitations of visualizing precise anatomy in a relevant number of patients is still missing. The data sets of CBCT imaging of the middle and inner ear of 204 patients were analyzed regarding the visualization of 18 different anatomic structures...
October 17, 2016: European Archives of Oto-rhino-laryngology
Christoph Scherfler, Alois Josef Schiefecker, Margarete Delazer, Ronny Beer, Thomas Bodner, Georg Spinka, Mario Kofler, Bettina Pfausler, Christian Kremser, Michael Schocke, Thomas Benke, Elke R Gizewski, Erich Schmutzhard, Raimund Helbok
OBJECTIVE: MRI parameters of iron concentration (R2*, transverse relaxation rate), microstructural integrity (mean diffusivity and fractional anisotropy), as well as gray and white matter volumes were analyzed in patients with subarachnoid hemorrhage (SAH) and uncomplicated clinical course to detect the evolution of brain tissue changes 3 weeks and 12 months after ictus. METHODS: MRI scans of 14 SAH patients (aneurysm of the anterior communicating artery, n = 5; no aneurysm n = 9) were compared with 14 age-matched healthy control subjects...
October 2016: Annals of Clinical and Translational Neurology
Christian Brigolin, Nathan McKenty, Kirit Pindolia, Barry Wolf
Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities. Untreated individuals with biotinidase deficiency cannot recycle biotin from biocytin (N-biotinyl-ϵ-lysine), the proteolytic digestion product of protein-bound biotin. Biotin therapy can markedly resolve symptoms, or can prevent the development of symptoms if initiated early. To understand better the pathogenesis of the neurological problems in the disorder in humans, we have compared gene transcription changes during the first week post-birth in the brains of biotinidase-deficient, transgenic, knock-out mice at days 1 and 8 and compared to changes in wildtype mice at the same times...
December 2016: Molecular Genetics and Metabolism Reports
Gabrielle G Tardieu, Christian Fisahn, Marios Loukas, Marc Moisi, Jens Chapman, Rod J Oskouian, R Shane Tubbs
The epidural space contains the internal vertebral venous plexus, adipose, and other connective tissues. In the anatomical literature, there are nonspecific descriptions of varying fibrous connective tissue bands in the epidural space, mainly mentioned in the lumbar region, that tether the dural sac to the posterior longitudinal ligament, the vertebral canal, and the ligamentum flavum. These ligaments have been termed as Hofmann's ligaments. This review expands on the anatomy and function of Hofmann's ligaments, increasing the awareness of their presence and serves as an impetus for further study of their histology, innervation, and function...
September 13, 2016: Curēus
Christian Svendsen Juhl, Martin Ballegaard, Morten H Bestle, Peer Tfelt-Hansen
Meralgia paresthetica (MP) is a mononeuropathy of the lateral femoral cutaneous nerve (LFCN) caused by external compression of the nerve during its course close to the anterior superior iliac spine. We present a case of a patient with acute respiratory distress induced by Legionella pneumonia who was admitted to the intensive care unit (ICU) for mechanical ventilation. In the ICU, the patient received one session of prone position ventilation for 8.5 consecutive hours. At evaluation six months later, the patient reported persistent bilateral numbness of the anterolateral thigh, which he complained had begun right after he woke up at the ICU...
2016: Case Reports in Critical Care
Martin Möckel, Julia Searle, Henning Thomas Baberg, Peter Dirschedl, Benny Levenson, Jürgen Malzahn, Thomas Mansky, Christian Günster, Elke Jeschke
OBJECTIVES: We aimed to analyse the short-term and long-term outcome of patients with end-stage renal disease (ESRD) undergoing percutaneous intervention (PCI) as compared to coronary artery bypass surgery (CABG) to evaluate the optimal coronary revascularisation strategy. DESIGN: Retrospective analysis of routine statutory health insurance data between 2010 and 2012. MAIN OUTCOME MEASURES: Primary outcome was adjusted all-cause mortality after 30 days and major adverse cardiovascular and cerebrovascular events at 1 year...
2016: Open Heart
Gabriel Marzinotto, José C Rosales, Mounîm A El-Yacoubi, Sonia Garcia-Salicetti, Christian Kahindo, Hélène Kerhervé, Victoria Cristancho-Lacroix, Anne-Sophie Rigaud
Characterizing age from handwriting (HW) has important applications, as it is key to distinguishing normal HW evolution with age from abnormal HW change, potentially triggered by neurodegenerative decline. We propose, in this work, an original approach for online HW style characterization based on a two-level clustering scheme. The first level generates writer-independent word clusters from raw spatial-dynamic HW information. At the second level, each writer's words are converted into a Bag of Prototype Words that is augmented by an interword stability measure...
2016: Computational and Mathematical Methods in Medicine
Christian Adam, Jonas Wohlfarth, Maike Haußmann, Helga Sennefelder, Annette Rodin, Mareike Maler, Stefan F Martin, Matthias Goebeler, Marc Schmidt
Chromium allergy is a common occupational skin disease mediated by chromium (VI)-specific T cells that induce delayed-type hypersensitivity in sensitized individuals. Additionally, chromium (VI) can act as irritant. Both responses critically require innate immune activation, but if and how chromium (VI) elicits this signal is currently unclear.Using human monocytes, primary human keratinocytes and murine dendritic cells we show that chromium (VI) compounds fail to trigger direct proinflammatory activation but potently induce processing and secretion of IL-1β...
October 14, 2016: Journal of Investigative Dermatology
Henrik Vase, Steffen Christensen, Aage Christiansen, Christian Juhl Therkelsen, Evald Høj Christiansen, Hans Eiskjær, Steen Hvidtfeldt Poulsen
INTRODUCTION: Mechanical circulatory support may be considered as a therapeutic option in selected patients with refractory cardiac arrest (rCA). Animal studies suggest a potential role for the Impella(®) left ventricular assist device in this setting, but so far no human data have been published. METHODS: Eight patients with rCA were treated with the Impella CP(®) device at our institution from November 2014 to October 2015. The Impella CP(®) was used at the discretion of the treating physicians in patients with rCA and pulseless electrical activity with presumed primary left ventricular failure...
October 14, 2016: Resuscitation
Raghu L Motaganahalli, Matthew R Smeds, Michael P Harlander-Locke, Peter F Lawrence, Naoki Fujimura, Randall R DeMartino, Giovanni De Caridi, Alberto Munoz, Sherene Shalhub, Susanna H Shin, Kwame S Amankwah, Hugh A Gelabert, David A Rigberg, Jeffrey J Siracuse, Alik Farber, E Sebastian Debus, Christian Behrendt, Jin H Joh, Naveed U Saqib, Kristofer M Charlton-Ouw, Catherine M Wittgen
BACKGROUND: Adventitial cystic disease (ACD) is an unusual arteriopathy; case reports and small series constitute the available literature regarding treatment. We sought to examine the presentation, contemporary management, and long-term outcomes using a multi-institutional database. METHODS: Using a standardized database, 14 institutions retrospectively collected demographics, comorbidities, presentation/symptoms, imaging, treatment, and follow-up data on consecutive patients treated for ACD during a 10-year period, using Society for Vascular Surgery reporting standards for limb ischemia...
October 14, 2016: Journal of Vascular Surgery
Christian Willersinn, Patrik Mouron, Gabriele Mack, Michael Siegrist
Potatoes are one of the commodities with the highest loss shares along the entire supply chain. In the present study, we analyzed six potential loss reduction scenarios concerning their environmental-socio-economic sustainability compared with the current situation by using the "SustainOS" methodology. For this purpose, life cycle assessments, full-cost calculations and an online consumer survey were conducted. Environmental improvements through loss reduction were rather small and did not cross limits of significance, but the socio-economic performance of the entire supply chain can be improved considerably...
October 14, 2016: Waste Management
David A Shearer, William Sparkes, Jonny Northeast, Daniel J Cunningham, Christian J Cook, Liam P Kilduff
OBJECTIVES: Biochemical (e.g. creatine kinase (CK)) and neuromuscular (e.g. peak power output (PPO)) markers of recovery are expensive and require specialist equipment. Perceptual measures are an effective alternative, yet most validated scales are too long for daily use. DESIGN: This study utilises a longitudinal multi-level design to test an adapted Brief Assessment of Mood (BAM+), with four extra items and a 100mm visual analogue scale to measure recovery. METHODS: Elite under-21 academy soccer players (N=11) were monitored across five games with data (BAM+, CK and PPO) collected for each game at 24h pre, 24h and 48h post-match...
October 5, 2016: Journal of Science and Medicine in Sport
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