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# fragil

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#1
Filipa Dias Costa, Carla Maia, Susana Almeida, Ricardo Ferreira
Bone fractures are not uncommon in paediatric age. However, when recurrent, an underlying clinical condition must not be excluded. We describe the case of a boy aged 7 years, referred for investigation of recurrent bone fractures. Personal and family histories were unremarkable. Physical examination was normal. Almost all primary bone disorders were excluded. Additional laboratory investigations ruled out the majority of secondary causes of bone fragility. Coeliac disease (CD) serologies, however, were positive, and duodenal biopsies confirmed this diagnosis (Marsh III B)...
January 20, 2017: BMJ Case Reports
#2
Syuji Kurogi, Tomohisa Sekimoto, Taro Funamoto, Tomomi Ota, Shihoko Nakamura, Takuya Nagai, Mai Nakahara, Kumiko Yoshinobu, Kimi Araki, Masatake Araki, Etsuo Chosa
Despite numerous genetic studies on bone metabolism, understanding of the specific mechanisms is lacking. We developed an efficient screening system to identify novel genes involved in bone metabolism using mutant mouse strains registered with the Exchangeable Gene Trap Clones (EGTC) database. From 1278 trap clones in the EGTC database, 52 candidate lines were selected in the first screening, determined based on "EST profile", "X-gal", "Related article", and "Novel gene". For the second screening, bone morphometric analysis, biomechanical strength analysis, bone X-gal staining, etc...
January 20, 2017: Scientific Reports
#3
Rebecca Pedersini, Sara Monteverdi, Gherardo Mazziotti, Vito Amoroso, Elisa Roca, Filippo Maffezzoni, Lucia Vassalli, Filippo Rodella, Anna Maria Formenti, Stefano Frara, Roberto Maroldi, Alfredo Berruti, Edda Simoncini, Andrea Giustina
BACKGROUND: The impact of long-term adjuvant therapy with aromatase inhibitors (AIs) on vertebral fracture (VF) risk is still unclear. OBJECTIVE: In this cross-sectional study, we explored the prevalence and determinants of VFs in breast cancer (BC) patients before and during AI therapy. Each woman underwent a dual-energy X-ray absorptiometry (DXA) to evaluate bone mineral density (BMD) and identify VFs by a quantitative morphometric approach. Blood samples were collected to measure serum hormone and calcium levels...
January 16, 2017: Bone
#4
Olga Ciepiela, Anna Adamowicz-Salach, Agata Zgodzińska, Magdalena Łazowska, Iwona Kotuła
BACKGROUND: Osmotic Fragility Test (OFT) is widely considered as a sensitive indicator of red blood cells' sensitivity to the hypotonic solution. It is often used as a screening test for the diagnosis of hereditary spherocytosis (HS). Nowadays, the osmotic fragility test based on flow cytometric analysis (FCM OF) is widely used in laboratory practice. The purpose of this study was to optimize the assay sensitivity and to validate its clinical application in the diagnostic screening of childhood anemias...
January 19, 2017: Cytometry. Part B, Clinical Cytometry
#5
Fen-Biao Gao, Joel D Richter
Sellier et al. (2017) show that translation of expanded CGG repeats in fragile X-associated tremor/ataxia syndrome is initiated at an upstream ACG near-cognate start codon. The resulting polyglycine-containing protein, but not repeat RNA, is pathogenic by disrupting the nuclear lamina.
January 18, 2017: Neuron
#6
Sebastiano Bernini, Francesco Puosi, Dino Leporini
We investigate by Molecular Dynamics simulations of a molecular liquid the thermodynamic scaling (TS) of the structural relaxation time $\tau_\alpha$ in terms of the quantity $T\rho^{-\gamma_{ts}}$ where T and rho are the temperature and the density, respectively. The liquid does not exhibit strong virial-energy correlations. We propose how to evaluate both the characteristic exponent $\gamma_{ts}$ and the TS master curve by resorting to experimentally accessible quantities characterising the anharmonic elasticity and no details about the microscopic interactions...
January 19, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
#7
Shimin Cao, Jiaojiao Zhou, Xuan Wei, Shu-Guang Cheng
Massless charge carriers in gate potential modulate graphene quantum well transport in a same way that electromagnetic wave propagates in optical fibers. Recent experiment by Kim {\it et al} (Nat. Phys. 12 1022) reports the valley symmetry preserved transport in graphene carrier guider. Based on a tight-binding model, the valley resolved transport coefficients are calculated with the method of scattering matrix theory. For a straight potential well, valley resolved conductance is quantized with value $2n+1$ multiply $2e^2/h$ with integer $n$...
January 19, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
#8
Annette F Baas, Wilko Spiering, Frans L Moll, Lieve Page-Christiaens, Ingrid C M Beenakkers, Dennis Dooijes, Evert-Jan P A Vonken, Jasper J van der Smagt, Nine V Knoers, Steven V Koenen, Joost A van Herwaarden, Gertjan Tj Sieswerda
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c...
February 2017: American Journal of Medical Genetics. Part A
#9
O Gonschorek, S Hauck, T Weiß, V Bühren
INTRODUCTION: There is still no general consensus about the management of osteoporotic vertebral fractures. Recommendations depend on type of fracture, grade of instability, bone quality, and general conditions of the patient. Spontaneous fractures may be considered to be treated different compared to cases with high-velocity trauma. METHODS: According to the DVO, patients without trauma should first be treated conservatively. However, there is no more strict time protocol of 3 or 6 week conservative treatment before operations may be indicated...
January 18, 2017: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
#10
REVIEW
Emmanuel Biver, Alexandra Calmy, René Rizzoli
Chronic infections with human immunodeficiency virus (HIV), hepatitis B virus (HBV) or hepatitis C virus (HCV) add to age-dependent bone loss and may contribute to lower bone strength in the elderly. In this review, we report recent highlights on the epidemiology of bone fragility in chronic viral infections with HIV, HCV and HBV, its physiopathology and discuss the interference of antiviral therapies with bone metabolism. Chronic infections influence bone through the interactions between risk factors for bone fragility and falls (which are highly prevalent in infected patients), virus activity and antiviral drugs...
January 2017: Therapeutic Advances in Musculoskeletal Disease
#11
Sineida Berbert Ferreira, Morton Scheinberg, Denise Steiner, Tatiana Steiner, Gustavo Longhi Bedin, Rachel Berbert Ferreira
Alopecia areata (AA) is a chronic, autoimmune disease. The main symptom is massive hair loss, localized or diffuse, in the scalp and the whole body. However, nails may also be involved, and brittleness, fragility and pitting can be signs of nail dystrophy in AA patients. Here, we report the case of a male patient with AA refractory to various treatments, including oral, topical and intralesional corticosteroids, immunosuppressants, cyclosporin and PUVA (oxoralen plus ultraviolet light), all interrupted due to side effects...
September 2016: Case Reports in Dermatology
#12
Yu Liu, David Sumpter
Community ecosystems at very different levels of biological organization often have similar properties. Coexistence of multiple species, cross-feeding, biodiversity and fluctuating population dynamics are just a few of the properties that arise in a range of ecological settings. Here we develop a bottom-up model of consumer-resource interactions, in the form of an artificial ecosystem 'number soup', which reflects basic properties of many bacterial and other community ecologies. We demonstrate four key properties of the number soup model: (i) communities self-organize so that all available resources are fully consumed; (ii) reciprocal cross-feeding is a common evolutionary outcome, which evolves in a number of stages, and many transitional species are involved; (iii) the evolved ecosystems are often 'robust yet fragile', with keystone species required to prevent the whole system from collapsing; (iv) non-equilibrium dynamics and chaotic patterns are general properties, readily generating rich biodiversity...
January 2017: Journal of the Royal Society, Interface
#13
Yuchen Yang, Jianfang Li, Shuhuan Yang, Xinnian Li, Lu Fang, Cairong Zhong, Norman C Duke, Renchao Zhou, Suhua Shi
BACKGROUND: A large-scale systematical investigation of the influence of Pleistocene climate oscillation on mangrove population dynamics could enrich our knowledge about the evolutionary history during times of historical climate change, which in turn may provide important information for their conservation. RESULTS: In this study, phylogeography of a mangrove tree Sonneratia alba was studied by sequencing three chloroplast fragments and seven nuclear genes. A low level of genetic diversity at the population level was detected across its range, especially at the range margins, which was mainly attributed to the steep sea-level drop and associated climate fluctuations during the Pleistocene glacial periods...
January 18, 2017: BMC Evolutionary Biology
#14
Edgar Nunes de Moraes, Juliana Alves do Carmo, Flávia Lanna de Moraes, Raquel Souza Azevedo, Carla Jorge Machado, Dalia Elena Romero Montilla
OBJECTIVE: To evaluate the adequacy of the Clinical-Functional Vulnerability Index-20, a rapid triage instrument to test vulnerability in Brazilian older adults, for the use in primary health care. METHODS: The study included convenience sample of 397 patients aged older than or equal to 60 years attended at Centro de Referência para o Idoso (Reference Center for Older Adults) and of 52 older adults the same age attended at the community. The results of the questionnaire, consisting of 20 questions, were compared with those of the Comprehensive Geriatric Assessment, considered a reference for identifying frail older adults...
December 22, 2016: Revista de Saúde Pública
#15
Hilary P Grocott
February 2017: Anesthesia and Analgesia
#16
Hyun Woo Cho, Bong June Sung
We investigate the glass transition and interfacial dynamics of single strand fibers of flexible polymers by employing molecular dynamics (MD) simulations along with a coarse grained model. While the polymer fiber has drawn significant attention due to its applicability in tissue engineering and stretchable electronics, its dynamic properties, especially the glass transition temperature (Tg), are yet to be understood at the molecular level. For example, there has been a controversy on the effect of the polymer fiber radius (R) on Tg: Tg decreased with a decrease in R for some polymer fibers, whereas Tg of other polymer fibers was not sensitive to R...
January 18, 2017: Soft Matter
#17
Juan-Camilo Cárdenas, Marco A Janssen, Manita Ale, Ram Bastakoti, Adriana Bernal, Juthathip Chalermphol, Yazhen Gong, Hoon Shin, Ganesh Shivakoti, Yibo Wang, John M Anderies
Smallholder agricultural systems, strongly dependent on water resources and investments in shared infrastructure, make a significant contribution to food security in developing countries. These communities are being increasingly integrated into the global economy and are exposed to new global climate-related risks that may affect their willingness to cooperate in community-level collective action problems. We performed field experiments on public goods with private and collective risks in 118 small-scale rice-producing communities in four countries...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
#18
Wai Chan, Leann E Smith, Jan S Greenberg, Jinkuk Hong, Marsha R Mailick
The present investigation explored long-term relationships of behavioral symptoms of adolescents and adults with developmental disabilities with the mental health of their mothers. Fragile X premutation carrier mothers of an adolescent or adult child with fragile X syndrome (n = 95), and mothers of a grown child with autism (n = 213) were included. Behavioral symptoms at Time 1 were hypothesized to predict maternal depressive symptoms at Time 3 via maternal executive dysfunction at Time 2. Results provided support for the mediating pathway of executive dysfunction...
January 2017: American Journal on Intellectual and Developmental Disabilities
#19
Andy Tay, Dino Di Carlo
Techniques offering remote control of neural activity with high spatiotemporal resolution and specificity are invaluable for deciphering the physiological roles of different classes of neurons in brain development and disease. Here, we first confirm that micro-fabricated substrates with enhanced magnetic field gradients allow for wireless stimulation of neural circuits dosed with magnetic nanoparticles using calcium indicator dyes. We also investigate the mechanism of mechano-transduction in this system and identify that N-type mechano-sensitive calcium ion channels play a key role in signal generation in response to magnetic force...
January 17, 2017: Nano Letters
#20
Pengfei Li, Yaqi Zhang, Zeming Chen, Peng Gao, Tao Wu, Li-Min Wang
The enthalpy relaxation is performed in the glassy Ge22Se78 to understand the dynamic behaviors. The structure of the glass is examined by X-ray diffraction and Raman spectra. The dynamic parameters such as the fragility, stretching exponent and non-linear factor are determined. A low fragility of m = 27 is exhibited for the chalcogenide, however, the stretching exponent is found not to have a larger value. The enthalpy relaxation spectra are constructed for various glass formers, and a relationship between the fragility and the symmetry of the spectra is demonstrated...
January 17, 2017: Scientific Reports
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