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https://www.readbyqxmd.com/read/29437009/the-bhlh-protein-nulp1-is-essential-for-femur-development-via-acting-as-a-cofactor-in-wnt-signaling-in-drosophila
#1
Q Zeng, Y Wan, P Zhu, M Zhao, F Jiang, J Chen, M Tang, X Zhu, Y Li, H Zha, Y Wang, M Hu, X Mo, Y Zhang, Y Deng, Y Chen, X Fan, Y Chen, X Ye, R Bodmer, K Ocorr, Z Jiang, J Zhuang, W Yuan, X Wu
The basic helix-loop-helix (bHLH) protein families are a large class of transcription factors, which are associated with cell proliferation, tissue differentiation, and other important development process. We reported that the Nuclear localized protein-1 (Nulp1) might act as a novel bHLH transcriptional factor to mediate cellular functions. However, its role in development in vivo remains unknown. Here we show that Drosophila Nulp1 (dNulp1) mutants, generated by CRISPR/Cas9 targeting the Domain of Unknown Function (DUF654) in its C terminal, are partially homozygous lethal and the rare escapers have bent femurs, which are similar to the major manifestation of congenital bent-bone dysplasia in human Stuve-Weidemann syndrome...
February 12, 2018: Current Molecular Medicine
https://www.readbyqxmd.com/read/29435853/do-patients-whose-tumor-achieved-a-pathological-response-relapse-at-specific-sites-a-substudy-of-the-eortc-10994-big-1-00-trial
#2
Kim C Aalders, Nathan Touati, Konstantinos Tryfonidis, Mylène Annonay, Saskia Litiere, Jonas Bergh, Alexandre Bodmer, David A Cameron, Hervé R Bonnefoi
PURPOSE: To determine the sites of first distant relapse in patients with or without pCR following neoadjuvant chemotherapy in breast cancer patients enrolled in the EORTC 10994/BIG-1-00 trial. METHODS: We included patients enrolled in the EORTC 10994/BIG-1-00 trial who received at least one chemotherapy cycle before surgery and who had been diagnosed with a distant relapse. pCR was defined as no evidence of residual invasive cancer in the primary tumor and axillary lymph nodes with or without residual ductal carcinoma in situ...
February 12, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29433483/control-of-staphylococcus-aureus-in-dairy-herds-in-a-region-with-raw-milk-cheese-production-farmers-attitudes-knowledge-behaviour-and-belief-in-self-efficacy
#3
Marie-Eve Cousin, Maria Christina Härdi-Landerer, Verena Völk, Michèle Bodmer
BACKGROUND: Contagious mastitis is an important disease in dairy cattle, and the causative agent S. aureus can also impair raw milk cheese quality. In a confined region in eastern Switzerland attitude, knowledge and behaviour towards S. aureus und S. aureus control was assessed in 90 dairy farmers with communal alpine pasturing including raw milk cheese production with the aid of a questionnaire. RESULTS: Forty-three out of 90 questionnaires were returned (48% return rate)...
February 13, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29352609/induction-of-mitophagy-in-the-hei-oc1-auditory-cell-line-and-activation-of-the-atg12-lc3-pathway-in-the-organ-of-corti
#4
Cristian Setz, Anne-Sophie Benischke, Anna Catharina Pinho Ferreira Bento, Yves Brand, Soledad Levano, Franziska Paech, Katharina Leitmeyer, Daniel Bodmer
Autophagy is a highly evolutionary conserved quality control defense mechanism within cells, which has also been implicated in cell death processes. In the mammalian inner ear, autophagy has been shown to play a role during early morphogenesis as well as in adult cochlear hair cells exposed to ototoxic insults. Mitophagy, a selective autophagic cell process targeting mitochondria, hasn't been studied in the inner ear so far. On this work, we searched for molecular indicators of mitophagy within House Ear Institute-Organ of Corti-1 (HEI-OC1) cells as well as in the organ of Corti (OC)...
January 11, 2018: Hearing Research
https://www.readbyqxmd.com/read/29329624/apparent-prevalence-of-and-risk-factors-for-infection-with-ostertagia-ostertagi-fasciola-hepatica-and-dictyocaulus-viviparus-in-swiss-dairy-herds
#5
C F Frey, R Eicher, K Raue, C Strube, M Bodmer, B Hentrich, B Gottstein, N Marreros
Infections with helminth parasites can negatively affect performance of dairy cows. Knowledge on infection intensity, spatial distributions and risk factors are key to develop targeted treatment strategies. Canada and most EU countries have conducted large investigations, but respective data for Switzerland were missing. We now performed a bulk tank milk serosurvey for Ostertagia ostertagi, Fasciola hepatica, and Dictyocaulus viviparus on a total of 1036 voluntarily participating dairy herds that were sampled at confinement periods, i...
January 30, 2018: Veterinary Parasitology
https://www.readbyqxmd.com/read/29315292/phase-i-study-of-sorafenib-combined-with-radiation-therapy-and-temozolomide-as-first-line-treatment-of-high-grade-glioma
#6
A F Hottinger, A Ben Aissa, V Espeli, D Squiban, N Dunkel, M I Vargas, T Hundsberger, N Mach, K Schaller, D C Weber, A Bodmer, P-Y Dietrich
This corrects the article DOI: 10.1038/bjc.2014.209.
January 9, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29301965/genetics-of-the-human-face-identification-of-large-effect-single-gene-variants
#7
Daniel J M Crouch, Bruce Winney, Willem P Koppen, William J Christmas, Katarzyna Hutnik, Tammy Day, Devendra Meena, Abdelhamid Boumertit, Pirro Hysi, Ayrun Nessa, Tim D Spector, Josef Kittler, Walter F Bodmer
To discover specific variants with relatively large effects on the human face, we have devised an approach to identifying facial features with high heritability. This is based on using twin data to estimate the additive genetic value of each point on a face, as provided by a 3D camera system. In addition, we have used the ethnic difference between East Asian and European faces as a further source of face genetic variation. We use principal components (PCs) analysis to provide a fine definition of the surface features of human faces around the eyes and of the profile, and chose upper and lower 10% extremes of the most heritable PCs for looking for genetic associations...
January 4, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29285406/virtual-autopsy-to-assess-sacral-anatomy-conditions-for-a-minimal-invasive-approach-to-the-spinal-canal-through-the-hiatus-sacralis
#8
Andrea Bodmer, Steffen Ross, Andreas Raabe, Jürgen Beck, Christian T Ulrich, Philippe Schucht
Background: Despite multiple advantages of minimally invasive techniques in spinal surgery, the currently used approaches may lead to postoperative pain and spinal instability. As a natural orifice, the hiatus sacralis offers a nontransmuscular alternative entry point for endoscopic approaches. In this study, we collected data about the complex anatomical conditions of the sacral canal as a basis for the development of a sacral endoscope. Methods: We retrospectively evaluated 192 postmortem human cadaveric specimens with computed tomography (CT)...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29273314/antibiotic-drug-use-and-the-risk-of-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-a-population-based-case-control-study
#9
Noel Frey, Andreas Bircher, Michael Bodmer, Susan S Jick, Christoph R Meier, Julia Spoendlin
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare, life-threatening mucocutaneous adverse drug reactions. Sulphonamide antibiotics are commonly accepted as one of the primary causes of SJS/TEN. This notion is based on results from two hospital-based case-control studies that identified the combined antibiotic cotrimoxazole (sulfamethoxazole and trimethoprim) as the cause of several SJS/TEN cases. Associations were also reported for penicillins, quinolones, cephalosporins, macrolides, tetracyclines, and metronidazole...
December 19, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29247099/evidence-assessing-the-diagnostic-performance-of-medical-smartphone-apps-a-systematic-review-and-exploratory-meta-analysis
#10
Rahel Buechi, Livia Faes, Lucas M Bachmann, Michael A Thiel, Nicolas S Bodmer, Martin K Schmid, Oliver Job, Kenny R Lienhard
OBJECTIVE: The number of mobile applications addressing health topics is increasing. Whether these apps underwent scientific evaluation is unclear. We comprehensively assessed papers investigating the diagnostic value of available diagnostic health applications using inbuilt smartphone sensors. METHODS: Systematic Review-MEDLINE, Scopus, Web of Science inclusive Medical Informatics and Business Source Premier (by citation of reference) were searched from inception until 15 December 2016...
December 14, 2017: BMJ Open
https://www.readbyqxmd.com/read/29237882/a-haldane-perspective-from-a-fisher-student
#11
W F Bodmer
No abstract text is available yet for this article.
November 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29230561/neurophysiological-variability-masks-differences-in-functional-neuroanatomical-networks-and-their-effectiveness-to-modulate-response-inhibition-between-children-and-adults
#12
Benjamin Bodmer, Moritz Mückschel, Veit Roessner, Christian Beste
Executive functions are well-known to undergo developmental changes from childhood to adulthood. Considerable efforts have been made to elucidate the affected system neurophysiological mechanisms. But while it is well-known that developmental changes affect intra-individual variability, this potential bias has largely been neglected when investigating the neurophysiology underlying developmental differences between children and adults. We hypothesize that due to differences in intra-individual variability of neural processes between children and adults, reliable group differences will only be evident after accounting for intra-individual variability in neurophysiological processes...
December 11, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/29222464/the-irish-dna-atlas-revealing-fine-scale-population-structure-and-history-within-ireland
#13
Edmund Gilbert, Seamus O'Reilly, Michael Merrigan, Darren McGettigan, Anne M Molloy, Lawrence C Brody, Walter Bodmer, Katarzyna Hutnik, Sean Ennis, Daniel J Lawson, James F Wilson, Gianpiero L Cavalleri
The extent of population structure within Ireland is largely unknown, as is the impact of historical migrations. Here we illustrate fine-scale genetic structure across Ireland that follows geographic boundaries and present evidence of admixture events into Ireland. Utilising the 'Irish DNA Atlas', a cohort (n = 194) of Irish individuals with four generations of ancestry linked to specific regions in Ireland, in combination with 2,039 individuals from the Peoples of the British Isles dataset, we show that the Irish population can be divided in 10 distinct geographically stratified genetic clusters; seven of 'Gaelic' Irish ancestry, and three of shared Irish-British ancestry...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29203786/antigen-specific-oncolytic-mv-based-tumor-vaccines-through-presentation-of-selected-tumor-associated-antigens-on-infected-cells-or-virus-like-particles
#14
Stefan Hutzler, Stephanie Erbar, Robert A Jabulowsky, Jan R H Hanauer, Jürgen H Schnotz, Tim Beissert, Bianca S Bodmer, Regina Eberle, Klaus Boller, Thorsten Klamp, Ugur Sahin, Michael D Mühlebach
Recombinant vaccine strain-derived measles virus (MV) is clinically tested both as vaccine platform to protect against other pathogens and as oncolytic virus for tumor treatment. To investigate the potential synergism in anti-tumoral efficacy of oncolytic and vaccine properties, we chose Ovalbumin and an ideal tumor antigen, claudin-6, for pre-clinical proof of concept. To enhance immunogenicity, both antigens were presented by retroviral virus-like particle produced in situ during MV-infection. All recombinant MV revealed normal growths, genetic stability, and proper expression and presentation of both antigens...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29182629/effects-of-peroxisome-proliferator-activated-receptors-ppar-%C3%AE-and-%C3%AE-agonists-on-cochlear-protection-from-oxidative-stress
#15
Marijana Sekulic-Jablanovic, Vesna Petkovic, Matthew B Wright, Krystsina Kucharava, Nathan Huerzeler, Soledad Levano, Yves Brand, Katharina Leitmeyer, Andrea Glutz, Alexander Bausch, Daniel Bodmer
Various insults cause ototoxicity in mammals by increasing oxidative stress leading to apoptosis of auditory hair cells (HCs). The thiazolidinediones (TZDs; e.g., pioglitazone) and fibrate (e.g., fenofibrate) drugs are used for the treatment of diabetes and dyslipidemia. These agents target the peroxisome proliferator-activated receptors, PPARγ and PPARα, which are transcription factors that influence glucose and lipid metabolism, inflammation, and organ protection. In this study, we explored the effects of pioglitazone and other PPAR agonists to prevent gentamicin-induced oxidative stress and apoptosis in mouse organ of Corti (OC) explants...
2017: PloS One
https://www.readbyqxmd.com/read/29076124/-long-term-outcome-analysis-of-subjective-and-objective-parameters-after-breast-reduction-in-159-cases-patients-judge-differently-from-plastic-surgeons
#16
Rik Osinga, Doris Babst, Elvira S Bodmer, Bjoern C Link, Elmar Fritsche, Urs Hug
Introduction This work assessed both subjective and objective postoperative parameters after breast reduction surgery and compared between patients and plastic surgeons. Patients and Methods After an average postoperative observation period of 6.7 ± 2.7 (2 - 13) years, 159 out of 259 patients (61 %) were examined. The mean age at the time of surgery was 37 ± 14 (15 - 74) years. The postoperative anatomy of the breast and other anthropometric parameters were measured in cm with the patient in an upright position...
October 26, 2017: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/29054899/lung-adenocarcinoma-metastastic-lesion-in-the-internal-auditory-meatus
#17
Eugene Hung Chih Wong, Daniel Bodmer, Nora Tetter, Yves Brand
Metastasis to the cerebellopontine angle (CPA) or internal auditory meatus (IAM) is rare.We report a rare case of a 69-year-old woman with metastatic lung adenocarcinoma, who presented with 2 weeks history of left-sided hearing loss and progressively worsening vertigo. Examination revealed a left-sided facial nerve palsy while pure tone audiometry (PTA) showed a new left-sided deafness. MRI showed a new enhancing soft tissue lesion in the left IAM, highly suspicious of new metastases from her progressive lung cancer, which contributed to her neuro-otological symptoms...
October 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29031895/chronic-pelvic-pain-in-an-interdisciplinary-setting-1-year-prospective%C3%A2-cohort
#18
Catherine Allaire, Christina Williams, Sonja Bodmer-Roy, Sean Zhu, Kristina Arion, Kristin Ambacher, Jessica Wu, Ali Yosef, Fontayne Wong, Heather Noga, Susannah Britnell, Holly Yager, Mohamed A Bedaiwy, Arianne Y Albert, Sarka Lisonkova, Paul J Yong
BACKGROUND: Chronic pelvic pain affects ∼15% of women, and presents a challenging problem for gynecologists due to its complex etiology involving multiple comorbidities. Thus, an interdisciplinary approach has been proposed for chronic pelvic pain, where these multifactorial comorbidities can be addressed by different interventions at a single integrated center. Moreover, while cross-sectional studies can provide some insight into the association between these comorbidities and chronic pelvic pain severity, prospective longitudinal cohorts can identify comorbidities associated with changes in chronic pelvic pain severity over time...
October 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29027197/the-risk-of-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-in-new-users-of-antiepileptic-drugs
#19
Noel Frey, Michael Bodmer, Andreas Bircher, Stephan Rüegg, Susan S Jick, Christoph R Meier, Julia Spoendlin
OBJECTIVE: Older antiepileptic drugs (AEDs) are known to cause Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN). However, evidence for newer AED is sparse. We quantified risks of SJS/TEN in association with use of all AEDs in the United Kingdom. METHODS: In a matched case-control study of 480 previously validated SJS/TEN cases (1995-2013) we used conditional logistic regression to calculate odds ratios (ORs) with 95% confidence intervals (CIs), and calculated absolute risks of SJS/TEN within separate cohorts of new users of 28 AEDs...
December 2017: Epilepsia
https://www.readbyqxmd.com/read/28986453/reduced-cardiac-calcineurin-expression-mimics-long-term-hypoxia-induced-heart-defects-in-drosophila
#20
Rachel Zarndt, Stanley M Walls, Karen Ocorr, Rolf Bodmer
BACKGROUND: Hypoxia is often associated with cardiopulmonary diseases, which represent some of the leading causes of mortality worldwide. Long-term hypoxia exposures, whether from disease or environmental condition, can cause cardiomyopathy and lead to heart failure. Indeed, hypoxia-induced heart failure is a hallmark feature of chronic mountain sickness in maladapted populations living at high altitude. In a previously established Drosophila heart model for long-term hypoxia exposure, we found that hypoxia caused heart dysfunction...
October 2017: Circulation. Cardiovascular Genetics
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