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https://www.readbyqxmd.com/read/28108836/smad-dependent-signaling-plays-a-detrimental-role-in-a-fly-model-of-smarcb1-deficiency-and-the-biology-of-atypical-teratoid-rhabdoid-tumors
#1
Astrid Jeibmann, Jacqueline Schulz, Kristin Eikmeier, Pascal D Johann, Katharina Thiel, Isabel Tegeder, Oliver Ambrée, Michael C Frühwald, Stefan M Pfister, Marcel Kool, Werner Paulus, Martin Hasselblatt
Atypical teratoid/rhabdoid tumors (ATRT) are highly malignant brain tumors arising in young children. The majority of ATRT is characterized by inactivation of the chromatin remodeling complex member SMARCB1 (INI1/hSNF5). Little is known, however, on downstream pathways involved in the detrimental effects of SMARCB1 deficiency which might also represent targets for treatment. Using Drosophila melanogaster and the Gal4-UAS system, modifier screens were performed in order to identify the role of SMAD dependent signaling in the lethal phenotype associated with knockdown of snr1, the fly homolog of SMARCB1...
January 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28108779/-laudation-of-professor-dr-med-uwe-frithjof-haustein-on-the-occasion-of-his-80th-birthday
#2
P Nenoff, J Kleine-Tebbe, J C Simon
No abstract text is available yet for this article.
January 20, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28108447/mirmine-a-database-of-human-mirna-expression-profiles
#3
Bharat Panwar, Gilbert S Omenn, Yuanfang Guan
MOTIVATION: MicroRNAs (miRNAs) are small non-coding RNAs that are involved in post-transcriptional regulation of gene expression. In this high-throughput sequencing era, a tremendous amount of RNA-seq data is accumulating, and full utilization of publicly available miRNA data is an important challenge. These data are useful to determine expression values for each miRNA, but quantification pipelines are in a primitive stage and still evolving; there are many factors that affect expression values significantly...
January 19, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28105575/bongkrekic-acid-a-review-of-a-lesser-known-mitochondrial-toxin
#4
REVIEW
Mehruba Anwar, Amelia Kasper, Alaina R Steck, Joshua G Schier
INTRODUCTION: Bongkrekic acid (BA) has a unique mechanism of toxicity among the mitochondrial toxins: it inhibits adenine nucleotide translocase (ANT) rather than the electron transport chain. Bongkrekic acid is produced by the bacterium Burkholderia gladioli pathovar cocovenenans (B. cocovenenans) which has been implicated in outbreaks of food-borne illness involving coconut- and corn-based products in Indonesia and China. Our objective was to summarize what is known about the epidemiology, exposure sources, toxicokinetics, pathophysiology, clinical presentation, and diagnosis and treatment of human BA poisoning...
January 19, 2017: Journal of Medical Toxicology: Official Journal of the American College of Medical Toxicology
https://www.readbyqxmd.com/read/28103842/one-size-doesn-t-fit-all-cross-sectional-associations-between-neighborhood-walkability-crime-and-physical-activity-depends-on-age-and-sex-of-residents
#5
Andrea S Richardson, Wendy M Troxel, Madhumita B Ghosh-Dastidar, Robin Beckman, Gerald P Hunter, Amy S DeSantis, Natalie Colabianchi, Tamara Dubowitz
BACKGROUND: Low-income African American adults are disproportionately affected by obesity and are also least likely to engage in recommended levels of physical activity (Flegal et al. JAMA 303(3):235-41, 2010; Tucker et al. Am J Prev Med 40(4):454-61, 2011). Moderate-to-vigorous physical activity (MVPA) is an important factor for weight management and control, as well as for reducing disease risk (Andersen et al. Lancet 368(9532):299-304, 2006; Boreham and Riddoch J Sports Sci 19(12):915-29, 2001; Carson et al...
January 19, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28103642/subcutaneous-adipose-tissue-response-to-a-non-invasive-hyperthermic-treatment-using-a-1-060%C3%A2-nm-laser
#6
John W Decorato, Bo Chen, Rafael Sierra
BACKGROUND: We postulated that a hyperthermic treatment using a 1,060 nm laser can cause a controlled adipocyte injury resulting in non-invasive fat reduction. This three-part study identified treatment parameters for a safe and tolerable treatment, demonstrated short- and long-term tissue response, and assessed the potential of this treatment for non-invasive fat reduction. METHODS: In vivo temperature measurements were conducted prior to abdominoplasty via a thermal camera (for surface readings) and thermocouple needle (for subcutaneous readings)...
January 19, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28103628/treatment-of-a-vulvar-paget-s-disease-by-photodynamic-therapy-with-a-new-light-emitting-fabric-based-device
#7
Claire Vicentini, Olivier Carpentier, Fabienne Lecomte, Elise Thecua, Laurent Mortier, Serge R Mordon
INTRODUCTION: The non-invasive vulvar Paget's disease is an intra-epidermal carcinoma with glandular characteristics. It appears like an erythematous plaque. The main symptoms are pruritus and pain. The standard treatment is surgical excision in depth. This treatment is complicated with a severe morbidity and photodynamic therapy can be an alternative choice. However, the pain experienced during the photodynamic treatment of vulvar lesion is intense and leads to a premature interruption of the treatment...
January 19, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28103604/modification-of-first-impression-formation-and-personality-by-manipulating-outer-appearance
#8
Susanne-Marie Hüttner, Michael Linden
BACKGROUND/AIMS: Global impression is the first item in any psychopathological evaluation, as patients often elicit negative responses in other persons by a dysfunctional first impression formation. This can lead to interactional problems and stigmatization. This study tested to what degree the perception of "personality" can be changed by simple manipulations of the outer appearance of a person. METHOD: A total of 92 persons were given two different photos of the same female, one with hair combed back and the other with "open" curly hair...
January 20, 2017: Psychopathology
https://www.readbyqxmd.com/read/28103202/erratum-for-the-paper-cytology-of-pericardial-effusion-due-to-malignancy-kalogeraki-a-lazopoulos-g-papadakis-gz-tamiolakis-d-karvela-kalogeraki-i-karvelas-kalogerakis-m-segredakis-j-papadakis-m-moustou-e-datseri-g-chalkiadakis-ge-tzardi-m-rom-j-intern-med-2016
#9
https://www.readbyqxmd.com/read/28102881/erratum-for-schulz-pj-et-al-swiss-med-wkly-2007-137-suppl-155-132s-137s
#10
Peter J Schulz, Uwe Hartung, Joachim Haess, Angelo Tomada
No abstract text is available yet for this article.
January 19, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#11
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102863/a-taxonomy-of-medical-uncertainties-in-clinical-genome-sequencing
#12
Paul K J Han, Kendall L Umstead, Barbara A Bernhardt, Robert C Green, Steven Joffe, Barbara Koenig, Ian Krantz, Leo B Waterston, Leslie G Biesecker, Barbara B Biesecker
PURPOSE: Clinical next-generation sequencing (CNGS) is introducing new opportunities and challenges into the practice of medicine. Simultaneously, these technologies are generating uncertainties of an unprecedented scale that laboratories, clinicians, and patients are required to address and manage. We describe in this report the conceptual design of a new taxonomy of uncertainties around the use of CNGS in health care. METHODS: Interviews to delineate the dimensions of uncertainty in CNGS were conducted with genomics experts and themes were extracted in order to expand on a previously published three-dimensional taxonomy of medical uncertainty...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#13
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102861/clinical-utility-of-next-generation-sequencing-for-inherited-bone-marrow-failure-syndromes
#14
Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo Harigae, Shinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano, Seiji Kojima
PURPOSE: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. METHODS: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). RESULTS: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28099347/prediction-of-risk-of-diabetic-retinopathy-for-all-cause-mortality-stroke-and-heart-failure-evidence-from-epidemiological-observational-studies
#15
Xiao-Rong Zhu, Yong-Peng Zhang, Lu Bai, Xue-Lian Zhang, Jian-Bo Zhou, Jin-Kui Yang
To examine and quantify the potential relation between diabetic retinopathy (DR) and risk of all-cause mortality, stroke and heart failure (HF).The resources of meta-analysis of epidemiological observational studies were from Pub-med, EMBASE, CINAHL, Cochrane Library, conference, and proceedings.Random/fixed effects models were used to calculate pooled subgroup analysis stratified by different grades of DR was performed to explore the potential source of heterogeneity. Statistical manipulations were undertaken using program STATA...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28099052/mhealth-intervention-elements-and-user-characteristics-determine-utility-a-mixed-methods-analysis
#16
Lyndsay A Nelson, Shelagh A Mulvaney, Kevin B Johnson, Chandra Y Osborn
BACKGROUND: Mobile health (mHealth) interventions are improving the medication adherence of adults with type 2 diabetes mellitus (T2DM), but few studies examine how users experience these interventions. Therefore, we used a mixed-methods approach to understand how T2DM users experience a text messaging and interactive voice response (IVR)-delivered medication adherence intervention called MEssaging for Diabetes (MED). METHODS: Adults with T2DM used MED as part of a 3-month pilot study...
January 2017: Diabetes Technology & Therapeutics
https://www.readbyqxmd.com/read/28099034/re-evidence-that-dry-needling-is-the-intent-to-bypass-regulation-to-practice-acupuncture-in-the-united-states-by-fan-et-al-j-altern-complement-med-2016-22-591-593
#17
Jan Dommerholt, Robert Stanborough
No abstract text is available yet for this article.
January 18, 2017: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
https://www.readbyqxmd.com/read/28098509/-compassionate-use-protocol-for-auditory-brainstem-implantation-in-neurofibromatosis-type-2-early-house-ear-institute-experience
#18
Daniel S Roberts, William H Slattery, Brian S Chen, Steve R Otto, Marc S Schwartz, Gregory P Lekovic
OBJECTIVE: To report the preliminary outcomes of auditory brainstem implantation (ABI) under a compassionate use protocol for two ABI devices that are not approved by the US Food and Drug Administration. METHODS: A retrospective review was performed of neurofibromatosis type 2 (NF2) patients who underwent microsurgery for vestibular schwannoma (VS) and placement of either the Cochlear ABI541 or Med-El Synchrony ABIs. Peri-operative and device- related complications were reviewed...
January 18, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28097749/positive-contrast-from-cells-labeled-with-iron-oxide-nanoparticles-quantitation-of-imaging-data
#19
Sergey Magnitsky, Jinjin Zhang, Djaudat Idiyatullin, Geetha Mohan, Michael Garwood, Nancy E Lane, Sharmila Majumdar
PURPOSE: Conventional T2 -weighted MRI produces a hypointense signal from iron-labeled cells, which renders quantification unfeasible. We tested a SWeep Imaging with Fourier Transformation (SWIFT) MRI pulse sequence to generate a quantifiable hyperintense signal from iron-labeled cells. METHODS: Mesenchymal stem cells (MSCs) were labeled with different concentrations of iron oxide particles and examined for cell viability, proliferation, and differentiation. The SWIFT sequence was optimized to detect and quantify the amount of iron in the muscle tissue after injection of iron oxide solution and iron-labeled MSCs...
January 17, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28097733/optimized-amplitude-modulated-multiband-rf-pulse-design
#20
Samy Abo Seada, Anthony N Price, Joseph V Hajnal, Shaihan J Malik
PURPOSE: Multiband pulses are characterized by highly temporally modulated waveforms. Rapid phase or frequency modulation can be extremely demanding on the performance of radiofrequency (RF) pulse generation, which can lead to errors that can be avoided if pulses are restricted to amplitude modulation (AM) only. In this work, three existing multiband pulse design techniques are modified to produce AM waveforms. THEORY AND METHODS: Multiband refocusing pulses were designed using phase optimization, time shifting, and root flipping...
January 17, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
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