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Advaitha Madireddy, Settapong T Kosiyatrakul, Rebecca A Boisvert, Emilia Herrera-Moyano, María L García-Rubio, Jeannine Gerhardt, Elizabeth A Vuono, Nichole Owen, Zi Yan, Susan Olson, Andrés Aguilera, Niall G Howlett, Carl L Schildkraut
Common fragile sites (CFSs) are genomic regions that are unstable under conditions of replicative stress. Although the characteristics of CFSs that render them vulnerable to stress are associated mainly with replication, the cellular pathways that protect CFSs during replication remain unclear. Here, we identify and describe a role for FANCD2 as a trans-acting facilitator of CFS replication, in the absence of exogenous replicative stress. In the absence of FANCD2, replication forks stall within the AT-rich fragility core of CFS, leading to dormant origin activation...
October 20, 2016: Molecular Cell
Nina Xie, He Gong, Joshua A Suhl, Pankaj Chopra, Tao Wang, Stephen T Warren
Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing. Epigenetic modifying drugs can only transiently and modestly induce FMR1 reactivation in the presence of the elongated CGG repeat. As a proof-of-principle, we excised the expanded CGG-repeat in both somatic cell hybrids containing the human fragile X chromosome and human FXS iPS cells using the CRISPR/Cas9 genome editing. We observed transcriptional reactivation in approximately 67% of the CRISPR cut hybrid colonies and in 20% of isolated human FXS iPSC colonies...
2016: PloS One
Gherardo Mazziotti, Anna Maria Formenti, Robert A Adler, John P Bilezikian, Ashley Grossman, Emilia Sbardella, Salvatore Minisola, Andrea Giustina
Glucocorticoid-induced osteoporosis is the most frequent form of secondary osteoporosis caused by chronic exposure to glucocorticoid excess. Pathogenesis of glucocorticoid-induced osteoporosis is multifactorial including direct effects of glucocorticoids on bone cells and indirect effects of glucocorticoids on several neuroendocrine and metabolic pathways. Fragility fractures occur early in glucocorticoid-induced osteoporosis and anti-osteoporotic drugs along with calcium and vitamin D should be started soon after exposure to glucocorticoid excess...
October 20, 2016: Endocrine
Mingzhu Xia, Yuting Chu, Tianyi Wang, Wu Lei, Fengyun Wang
As a kind of promising energetic materials, the double furazan-based and furoxan-based compounds have raised concerns of many researchers in recent years. In this paper, the optimized structures, energetic properties, heat of formation (HOF), detonation properties, and bond dissociation energies of these compounds were calculated by density functional theory (DFT) method. The results show that the N-O bond, which is close to the adjacent coordinated oxygen atom in furoxan ring, is more fragile than the other N-O bonds in the ring...
November 2016: Journal of Molecular Modeling
Faisal R Jahangiri, Sami Al Eissa, Samir Sayegh, Fahad Al Helal, Shomoukh A Al-Sharif, Monerah M Annaim, Sheryar Muhammad, Tanweer Aziz
A 16-year-old male patient with Ehler-Danlos syndrome (EDS) and a back deformity since birth presented with severe kyphoscoliosis. The patient was neurologically intact but had respiratory and cardiac insufficiencies. A two-stage vertebral column resection (VCR) at T9-T10 with multiple level fusion with multimodality intraoperative neurophysiological monitoring (IONM) was planned.  During the first stage, pedicle screws were placed at multiple spinal levels above and below the VCR level. Upper and lower somatosensory evoked potentials (SSEP), transcranial electrical motor evoked potentials (TCeMEP), and electromyography were monitored continuously and showed no significant changes...
August 31, 2016: Curēus
Y Nouma, W Ben Amar, M Zribi, S Bardaa, Z Hammami, S Maatoug
We report a case of a Tunisian footballer who was found dead abroad under suspicious circumstances. The cause of death was, originally, attributed to a lightning strike. The corpse was buried without/autopsy. Over thirty years later, the family requested the exhumation to verify the identity and the cause of death. The exhumation was performed in 2011. DNA profiling from teeth and femur bone samples confirmed the identity of the deceased. The dry bone study revealed defects in the skull and the pelvis evoking firearm injuries...
October 11, 2016: Journal of Forensic and Legal Medicine
Lijun Liu, Yongfeng Yin, Zenghu Zhang, Yashwant K Malaiya
Modern infrastructure networks are often coupled together and thus could be modeled as interdependent networks. Overload and interdependent effect make interdependent networks more fragile when suffering from attacks. Existing research has primarily concentrated on the cascading failure process of interdependent networks without load, or the robustness of isolated network with load. Only limited research has been done on the cascading failure process caused by overload in interdependent networks. Redundant design is a primary approach to enhance the reliability and robustness of the system...
2016: PloS One
Sven Ohl, Martin Rolfs
Visual short-term memory (VSTM) is a crucial repository of information when events unfold rapidly before our eyes, yet it maintains only a fraction of the sensory information encoded by the visual system. Here, we tested the hypothesis that saccadic eye movements provide a natural bottleneck for the transition of fragile content in sensory memory to VSTM. In 4 experiments, we show that saccades, planned and executed after the disappearance of a memory array, markedly bias visual memory performance. First, items that had appeared at the saccade target were more readily remembered than items that had appeared elsewhere, even though the saccade was irrelevant to the memory task (Experiment 1)...
October 20, 2016: Journal of Experimental Psychology. Learning, Memory, and Cognition
Amy Krans, Michael G Kearse, Peter K Todd
OBJECTIVE: Repeat associated non-AUG (RAN) translation drives production of toxic proteins from pathogenic repeat sequences in multiple untreatable neurodegenerative disorders. Fragile X-associated tremor/ataxia syndrome (FXTAS) is one such condition, resulting from a CGG trinucleotide repeat expansion in the 5' leader sequence of the FMR1 gene. RAN proteins from the CGG repeat accumulate in ubiquitinated inclusions in FXTAS patient brains and elicit toxicity. In addition to the CGG repeat, an antisense mRNA containing a CCG repeat is also transcribed from the FMR1 locus...
October 19, 2016: Annals of Neurology
Julia Angélica Gonçalves Silveira, Mirella Lauria D'Elia, Isabela de Oliveira Avelar, Lara Ribeiro de Almeida, Hudson Andrade Dos Santos, Danielle Ferreira de Magalhães Soares, Múcio Flávio Barbosa Ribeiro, Walter Dos Santos Lima, Roselene Ecco
An adult free-ranged female maned wolf was rescued from a periurban area subject to anthropogenic disturbances in the Minas Gerais, Brazil. The animal presented poor body condition and anemia. The clinical condition rapidly deteriorated culminating in dead and a necropsy was performed. The main gross lesions were marked anemia and blood content in the intestines accompanied by many types of parasites. The protozoa Rangelia vitalii was identified by histopathological analysis predominantly within the cytoplasm of endothelial cells of capillaries of the small intestine...
December 2016: International Journal for Parasitology. Parasites and Wildlife
Samhita Kumar, Alys Willman
Populations living in fragile and conflict-affected settings (FCS) endure serious hardship, often including witnessing or having direct exposure to violence. These experiences adversely affect the mind, body, and spirit, and diminish the capacity of individuals and communities to take full advantage of economic empowerment opportunities. A small but growing number of programs have begun to combine psychosocial support with livelihood support in FCS, with some promising indication that this combination can enhance project outcomes...
September 2016: Journal of Public Health Policy
Lee Hae Rim, Koo Bon-Sang, Jeon Eun-Ok, Han Moo-Sung, Min Kyung-Cheol, Lee Seung Baek, Bae Yeonji, Mo In-Pil
<p>Leucocytozoonosis was found in three layer farms in chickens with suspected fatty liver or fatty liver hemorrhagic syndrome in Korea between 2009 and 2011. These layer chicken flocks showed both mortality and decreased egg production for one or two weeks when they were between 59 and 82 weeks old. At the necropsy, the most prominent gross lesions were found in the liver, which was enlarged, had a fragile texture, exhibited yellowish discolorations, and had various hemorrhagic lesions. Tissue reactions associated with megaloschizonts specific for Leucocytozoon caulleryi were prominent upon microscopic examination of the liver without significant lipidosis...
October 17, 2016: Journal of Biomedical Research
Rosalind L Coleman, Susie McLean
INTRODUCTION: The offer of pre-exposure prophylaxis (PrEP) is recommended as an additional option for HIV prevention for people at substantial risk of HIV infection as part of combination HIV prevention approaches. Implementing this depends on integrating PrEP in public health programmes that address risky practices with evidence-based interventions, and that operate in an enabling legal and policy environment for the delivery of health services to those at higher risk of HIV infection...
2016: Journal of the International AIDS Society
Marcus D Mazur, Philipp Taussky, Joel D MacDonald, Min S Park
BACKGROUND AND IMPORTANCE: As the use of flow-diverting stents (FDSs) for intracranial aneurysms expands, a small number of case reports have described the successful treatment of blister aneurysms of the internal carotid artery with flow diversion. Blister aneurysms are uncommon and fragile lesions that historically have high rates of morbidity and mortality despite multiple treatment strategies. We report a case of rebleeding after treatment of a ruptured blister aneurysm with deployment of a single FDS...
November 2016: Neurosurgery
G Kerckhofs, M Durand, R Vangoitsenhoven, C Marin, B Van der Schueren, G Carmeliet, F P Luyten, L Geris, K Vandamme
High resolution microfocus X-ray computed tomography (HR-microCT) was employed to characterize the structural alterations of the cortical and trabecular bone in a mouse model of obesity-driven type 2 diabetes (T2DM). C57Bl/6J mice were randomly assigned for 14 weeks to either a control diet-fed (CTRL) or a high fat diet (HFD)-fed group developing obesity, hyperglycaemia and insulin resistance. The HFD group showed an increased trabecular thickness and a decreased trabecular number compared to CTRL animals. Midshaft tibia intracortical porosity was assessed at two spatial image resolutions...
October 19, 2016: Scientific Reports
Thomas Barnay
The economists interest in the relationships between health and work by studying three relations: the negative effect of the poor health on the position on the labor market, the positive influence of work on health but also the role of hard working conditions and employment on health status. If the international literature is plentiful, the French literature is more recent. In France, the effects of health events are more penalizing on the professional career when they onset in second part of career inviting in the implementation of a premature prevention in companies...
October 2016: Médecine Sciences: M/S
Thet Thet Mu, Aye Aye Sein, Tint Tint Kyi, Myo Min, Ne Myo Aung, Nicholas M Anstey, Myat Phone Kyaw, Chit Soe, Mar Mar Kyi, Josh Hanson
BACKGROUND: There has been an impressive recent reduction in the global incidence of malaria, but the development of artemisinin resistance in the Greater Mekong Region threatens this progress. Increasing artemisinin resistance is particularly important in Myanmar, as it is the country in the Greater Mekong Region with the greatest malaria burden. If malaria is to be eliminated in the region, it is essential to define the spatial and temporal epidemiology of the disease in Myanmar to inform control strategies optimally...
October 18, 2016: Malaria Journal
Manuel de la Matta
It is universally accepted that deep sedation involves more risks than light-to-moderate sedation. Deep sedation for endoscopic explorations is normally provided by anesthesiologists in Spain and in most countries of the European Unión. The present debate about deep sedation-anesthesia states goes beyond the topic of cardiovascular and respiratory adverse events, and targets the cognitive consequences and global increased mortality of uncontrolled sedation states, especially in specific fragile populations...
October 19, 2016: Revista Española de Enfermedades Digestivas
Wael Ahmed, Robert A Fowler, Victoria A McCredie
No abstract text is available yet for this article.
November 2016: Critical Care Medicine
Petra Žádníková, Krzysztof Wabnik, Anas Abuzeineh, Marҫal Gallemí, Dominique Van Der Straeten, Richard S Smith, Dirk Inzé, Jiří Friml, Przemyslaw Prusinkiewicz, Eva Benkova
Differential cell growth enables flexible organ bending in the presence of environmental signals such as light or gravity. A prominent example of the developmental processes based on differential cell growth is the formation of the apical hook that protects the fragile shoot apical meristem when it breaks through the soil during germination. Here, we combined in silico and in vivo approaches to identify a minimal mechanism producing auxin gradient-guided differential growth during the establishment of the apical hook in the model plant Arabidopsis thaliana...
October 17, 2016: Plant Cell
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