Read by QxMD icon Read


Catherine I Carty, Alison M Lee, Nathan A E Wienandt, Edward L Stevens, Derron A Alves, John A Browne, Jill Bryan, Eoin G Ryan, Joseph P Cassidy
BACKGROUND: An unusual presentation of skin disease was identified in two related neonatal Pedigree Limousin calves presented to University Veterinary Hospital, University College Dublin, following detailed post mortem examination a diagnosis of dermatosparaxis was made. Dermatosparaxis in animals or Ehlers Danlos Syndrome, which is the analogous condition seen in humans, is a connective tissue disorder characterised by extreme skin fragility. To the authors' knowledge this is the first report of such a diagnosis in the Limousin breed and the features of this lethal phenotype were severe in comparison to previous reports of the condition...
2016: Irish Veterinary Journal
Matthew J Gazzellone, Mehdi Zarrei, Christie L Burton, Susan Walker, Mohammed Uddin, S M Shaheen, Julie Coste, Rageen Rajendram, Reva J Schachter, Marlena Colasanto, Gregory L Hanna, David R Rosenberg, Noam Soreni, Kate D Fitzgerald, Christian R Marshall, Janet A Buchanan, Daniele Merico, Paul D Arnold, Stephen W Scherer
BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0...
2016: Journal of Neurodevelopmental Disorders
Tobias Bluhmki, Raphael Simon Peter, Kilian Rapp, Hans-Helmut König, Clemens Becker, Ivonne Lindlbauer, Dietrich Rothenbacher, Jan Beyersmann, Gisela Büchele
OBJECTIVES: Persons with osteoporotic fracture history are subject to an increased risk for subsequent fractures and mortality. The aim of this retrospective study was to investigate the impact of a previous osteoporotic low-impact (fragility) index fracture (eg, forearm, lower leg) on mortality of a subsequent femoral fracture. DESIGN: Retrospective cohort study. PARTICIPANTS/MEASUREMENTS: Claims data of a German health insurance agency including >1...
October 21, 2016: Journal of the American Medical Directors Association
M Lakranbi, S Rabiou, L Belliraj, I Issoufou, F Z Ammor, J Ghalimi, Y Ouadnouni, M Smahi
INTRODUCTION: The occurrence of empyema after pneumonectomy or in suites with chronic pleural pocket is a dreaded complication. The management is long and difficult. The authors report their experience before this complication including infection control by an emptying of the pleural pocket percutaneous drainage or thoracostomy which will be complemented by a thoracomyoplasty the aim to erase the pleural pocket. MATERIALS AND METHODS: This is a retrospective study conducted between 2009 and 2015 concerning the records of 9 patients treated for empyema or in the aftermath of a lung resection or as part of a chronic pleural pocket and calcific...
October 21, 2016: Revue de Pneumologie Clinique
Marta Pardo, Eleonore Beurel, Richard S Jope
Cotinine is the major metabolite of nicotine and has displayed some capacity for improving cognition in mouse models following chronic administration. We tested if acute cotinine treatment is capable of improving cognition in the mouse model of Fragile X syndrome, Fmr1(-/-) knockout mice, and if this is related to inhibition by cotinine treatment of glycogen synthase kinase-3β (GSK3β), which is abnormally active in Fmr1(-/-) mice. Acute cotinine treatment increased the inhibitory serine-phosphorylation of GSK3β and the activating phosphorylation of AKT, which can mediate serine-phosphorylation of GSK3β, in both wild-type and Fmr1(-/-) mouse hippocampus...
October 24, 2016: European Journal of Neuroscience
Sonia Merino, Nekane Ibarluzea, Hiart Maortua, Begoña Prieto, Idoia Rouco, Maria-Asunción López-Aríztegui, Maria-Isabel Tejada
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country...
October 21, 2016: Genes
Wenjing Yang, Xianguo Fu, Juan Liao, Xiaoyan Guo, Fenghua Lan
Objective To construct a eukaryotic expression vector of human fragile X mental retardation 1 (FMR1) gene and establish stably transfected HeLa cells. Methods The full-length FMR1 cDNA fragment was amplified by PCR and inserted into eukaryotic expression vector pEGFP-N2 using restriction enzyme. The recombinant plasmid pEGFP-N2-FMR1, after identified by restriction digestion and DNA sequencing, was transfected into HeLa cells by lipofectamine 2000. The stably transfected cell line was obtained by screening with G418...
November 2016: Xi Bao Yu Fen Zi Mian Yi Xue za Zhi, Chinese Journal of Cellular and Molecular Immunology
M Teresa Viciosa, Joaquim J Moura Ramos, Hermínio P Diogo
The slow molecular mobility in the amorphous solid state of 3 active pharmaceutical drugs (cimetidine, nizatidine, and famotidine) has been studied using differential scanning calorimetry and the 2 dielectric-related techniques of dielectric relaxation spectroscopy and thermally stimulated depolarization currents. The glass-forming ability, the glass stability, and the tendency for crystallization from the equilibrium melt were investigated by differential scanning calorimetry, which also provided the characterization of the main relaxation of the 3 glass formers...
October 20, 2016: Journal of Pharmaceutical Sciences
Amrut Borade, Harish Kempegowda, Akhil Tawari, Michael Suk, Daniel S Horwitz
INTRODUCTION: Care gaps have been identified in the treatment of osteoporosis after the occurrence of a fragility hip fracture. HiROC (High Risk Osteoporosis Clinic) is a fracture liaison service implemented at our institution. In ProvenCare geriatric hip fracture care program at our institution pre-set orders for the inpatient HiROC consults were prescribed. We hypothesized that there will be a significant increase in the rate of enrollment of patients in the HiROC program after the integration of the pre-set orders...
October 17, 2016: Injury
Katsuto Tamai, Jouni Uitto
Epidermolysis bullosa is a group of heritable skin fragility disorders with considerable morbidity and mortality. It is known to be caused by mutations in as many as 18 distinct genes, but there is no specific or effective treatment. Preclinical developments of gene correction, protein replacement, and cell-based approaches for treatment have suggested new therapeutic avenues, and some of them, including bone marrow transplantation and mesenchymal stem cell therapy, have entered into early clinical trials. Hammersen et al...
November 2016: Journal of Investigative Dermatology
M I Alvarez-Mora, L Rodriguez-Revenga, I Madrigal, M Guitart-Mampel, G Garrabou, M Milà
Mitochondrial involvement plays an important role in neurodegenerative diseases. At least one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of presenting an adult-onset neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). In an attempt to provide new insights into the mechanisms involved in the pathogenesis of FXTAS, we characterized mitochondrial function and dynamics by the assessment of oxidative respiratory chain function, mitochondrial content, oxidative stress levels, and mitochondrial network complexity...
October 22, 2016: Molecular Neurobiology
Matthias Groh, Laura Oana Albulescu, Agnese Cristini, Natalia Gromak
R-loops comprise an RNA/DNA hybrid and displaced single-stranded DNA. They play crucial biological functions and are implicated in neurological diseases, including ataxias, amyotrophic lateral sclerosis, nucleotide expansion disorders (Friedreich ataxia, Fragile X syndrome) and cancer. Currently it is unclear which mechanisms cause R-loops structures to become pathogenic. The RNA/DNA helicase Senataxin (SETX) is one of the best characterised R-loop-binding factors in vivo. Mutations in SETX are linked to two neurodegenerative disorders: ataxia with oculomotor apraxia type 2 (AOA2) and amyotrophic lateral sclerosis type 4 (ALS4)...
October 19, 2016: Journal of Molecular Biology
Muhammad Abdul Haq, Yunlan Su, Dujin Wang
Materials which adjust their properties in response to environmental factors such as temperature, pH and ionic strength are rapidly evolving and known as smart materials. Hydrogels formed by smart polymers have various applications. Among the smart polymers, thermoresponsive polymer poly(N-isopropylacrylamide)(PNIPAM) is very important because of its well defined structure and property specially its temperature response is closed to human body and can be finetuned as well. Mechanical properties are critical for the performance of stimuli responsive hydrogels in diverse applications...
January 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
Markus T Hongisto, Maria Nuotio, Tiina Luukkaala, Olli Väistö, Harri K Pihlajamäki
BACKGROUND: Institutionalization after hip fracture is a socio-economical burden. We examined the predictive value of Instrumental Activities of Daily Living (IADL) and Mini Mental State Examination (MMSE) for institutionalization after hip fracture to identify patients at risk for institutionalization. METHODS: Fragility hip fracture patients ≥65 years of age (n = 584) were comprehensively examined at a geriatric outpatient clinic 4 to 6 months after surgery and followed 1 year postoperatively...
October 22, 2016: BMC Musculoskeletal Disorders
Gordon X Wang, Stephen J Smith, Philippe Mourrain
The distribution of proteins within sub-synaptic compartments is an essential aspect of their neurological function. Current methodology such as electron microscopy (EM) and super-resolution imaging techniques can provide precise localization of proteins, but are often limited to a small number of one-time observations with narrow spatial and molecular coverage. The diversity of synaptic proteins and synapse types demands synapse analysis on a scale that is prohibitive with current methods. Here, we demonstrate SubSynMAP, a fast, multiplexed sub-synaptic protein analysis method using wide-field data from deconvolution array tomography (ATD)...
October 22, 2016: ELife
D E Beaton, M Vidmar, K B Pitzul, R Sujic, N K Rotondi, E R Bogoch, J E M Sale, R Jain, J Weldon
: We evaluated the impact of a more intensive version of an existing post-fracture coordinator-based fracture prevention program and found that the addition of a full-risk assessment improved treatment rates. These findings provide additional support for more intensive programs aimed at reducing the risk of re-fractures. INTRODUCTION: Evidence-based guidelines support coordinator-based programs to improve post-fracture osteoporosis guideline uptake, with more intensive programs including bone mineral density (BMD) testing and/or treatment being associated with better patient outcomes...
October 21, 2016: Osteoporosis International
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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"