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https://www.readbyqxmd.com/read/28819289/escrt-iii-membrane-trafficking-misregulation-contributes-to-fragile-x-syndrome-synaptic-defects
#1
Dominic J Vita, Kendal Broadie
The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP). In the Drosophila FXS disease model, we found FMRP binds shrub mRNA (human Chmp4) to repress Shrub expression, causing overexpression during the disease state early-use critical period. The FXS hallmark is synaptic overelaboration causing circuit hyperconnectivity. Testing innervation of a central brain learning/memory center, we found FMRP loss and Shrub overexpression similarly increase connectivity...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28818232/review-of-the-endothelial-pathogenic-mechanism-of-tie2-related-venous-malformation
#2
REVIEW
Zhong Du, JiaWei Zheng, ZhiYuan Zhang, YanAn Wang
BACKGROUND: Venous malformation (VM) is a type of disease involving vascular morphogenesis in humans. Clinically, VM can be sporadic or inherited. TIE2, also known as TEK or HYK, is a member of the receptor tyrosine kinase subfamily and is highly conserved among species. In 1996, an arginine-to-tryptophan substitution at position 849 (R849W) in TIE2 was found to induce hereditary VM. Additional alterations in TIE2 involved in the pathogenesis of inherited or sporadic VM have since been reported...
September 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28814539/forward-a-registry-and-longitudinal-clinical-database-to-study-fragile-x-syndrome
#3
Stephanie L Sherman, Sharon A Kidd, Catharine Riley, Elizabeth Berry-Kravis, Howard F Andrews, Robert M Miller, Sharyn Lincoln, Mark Swanson, Walter E Kaufmann, W Ted Brown
BACKGROUND AND OBJECTIVE: Advances in the care of patients with fragile X syndrome (FXS) have been hampered by lack of data. This deficiency has produced fragmentary knowledge regarding the natural history of this condition, healthcare needs, and the effects of the disease on caregivers. To remedy this deficiency, the Fragile X Clinic and Research Consortium was established to facilitate research. Through a collective effort, the Fragile X Clinic and Research Consortium developed the Fragile X Online Registry With Accessible Research Database (FORWARD) to facilitate multisite data collection...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#4
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28809834/quantifying-infra-slow-dynamics-of-spectral-power-and-heart-rate-in-sleeping-mice
#5
Laura M J Fernandez, Sandro Lecci, Romain Cardis, Gil Vantomme, Elidie Béard, Anita Lüthi
Three vigilance states dominate mammalian life: wakefulness, non-rapid eye movement (non-REM) sleep, and REM sleep. As more neural correlates of behavior are identified in freely moving animals, this three-fold subdivision becomes too simplistic. During wakefulness, ensembles of global and local cortical activities, together with peripheral parameters such as pupillary diameter and sympathovagal balance, define various degrees of arousal. It remains unclear the extent to which sleep also forms a continuum of brain states-within which the degree of resilience to sensory stimuli and arousability, and perhaps other sleep functions, vary gradually-and how peripheral physiological states co-vary...
August 2, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28799463/rebuilding-research-capacity-in-fragile-states-the-case-of-a-somali-swedish-global-health-initiative
#6
Abdirisak Ahmed Dalmar, Abdullahi Sheik Hussein, Said Ahmed Walhad, Abdirashid Omer Ibrahim, Abshir Ali Abdi, Mohamed Khalid Ali, Derie Ismail Ereg, Khadra Ali Egal, Abdulkadir Mohamed Shirwa, Mohamed Hussain Aden, Marian Warsame Yusuf, Yakoub Aden Abdi, Lennart Freij, Annika Johansson, Khalif Bile Mohamud, Yusuf Abdulkadir, Maria Emmelin, Jaran Eriksen, Kerstin Erlandsson, Lars L Gustafsson, Anneli Ivarsson, Marie Klingberg-Allvin, John Kinsman, Carina Källestål, Mats Målqvist, Fatumo Osman, Lars-Åke Persson, Klas-Göran Sahlén, Stig Wall
This paper presents an initiative to revive the previous Somali-Swedish Research Cooperation, which started in 1981 and was cut short by the civil war in Somalia. A programme focusing on research capacity building in the health sector is currently underway through the work of an alliance of three partner groups: six new Somali universities, five Swedish universities, and Somali diaspora professionals. Somali ownership is key to the sustainability of the programme, as is close collaboration with Somali health ministries...
2017: Global Health Action
https://www.readbyqxmd.com/read/28798680/striatal-network-models-of-huntington-s-disease-dysfunction-phenotypes
#7
Pengsheng Zheng, James Kozloski
We present a network model of striatum, which generates "winnerless" dynamics typical for a network of sparse, unidirectionally connected inhibitory units. We observe that these dynamics, while interesting and a good match to normal striatal electrophysiological recordings, are fragile. Specifically, we find that randomly initialized networks often show dynamics more resembling "winner-take-all," and relate this "unhealthy" model activity to dysfunctional physiological and anatomical phenotypes in the striatum of Huntington's disease animal models...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28797939/informal-assistance-to-urban-families-and-the-risk-of-household-food-insecurity
#8
Christian King
RATIONALE: Food insecurity is a persistent social problem affecting one out of eight households in the United States. While evidence shows that public assistance programs (formal assistance) are effective in reducing food insecurity, there is more limited evidence documenting how informal support, through social capital, affects food insecurity. OBJECTIVE: To examine the role of informal support (through instrumental social support, social cohesion, social control, and social participation) on food insecurity transitions using longitudinal data of a sample of disadvantaged urban mothers from the Fragile Families and Child Wellbeing Study...
August 2, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28771973/trends-and-determinants-of-osteoporosis-treatment-and-screening-in-patients-with-rheumatoid-arthritis-compared-to-osteoarthritis
#9
Gulsen Ozen, Diane L Kamen, Ted R Mikuls, Bryant R England, Frederick Wolfe, Kaleb Michaud
OBJECTIVE: To profile osteoporosis (OP) care in patients with rheumatoid arthritis (RA) over the past decade. METHODS: Patients with RA or osteoarthritis (OA) were followed from 2003 through 2014. OP care was defined as receipt of OP treatment (with exception of calcium/vitamin D) or screening (OPTS). Adjusted trends over follow-up, and the factors associated with OP care were examined using the multivariable Cox proportional hazards. RESULTS: OPTS was reported in 67...
August 3, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28752476/bleeding-risk-with-invasive-procedures-in-patients-with-cirrhosis-and-coagulopathy
#10
REVIEW
Nekisa Zakeri, Emmanuel A Tsochatzis
PURPOSE OF REVIEW: Previous perceptions of cirrhosis as a hypocoagulable state have resulted in empirical blood product transfusions prior to invasive procedures. We evaluate procedure-related bleeding risks in patients with cirrhosis, assess the utility of conventional and newer global coagulation tests, and explore evidence surrounding prophylactic transfusion strategies. RECENT FINDINGS: Recent literature supports the concept of a rebalanced, albeit fragile, haemostasis equilibrium in cirrhosis, with a potential hypercoagulable tendency in stable patients...
September 2017: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/28742547/celiprolol-a-unique-selective-adrenoceptor-modulator
#11
James J Nawarskas, Angela Cheng-Lai, William H Frishman
Celiprolol is a β-blocker with a unique pharmacologic profile: it is a β1-andrenoceptor antagonist with partial β2 agonist activity. Given this combination of effects, celiprolol may be better described as a selective adrenoreceptor modulator. It has antihypertensive and antianginal properties and is indicated for those uses in various countries around the world. In the United States, however, the proposed indication for this drug will be for the treatment of vascular type Ehlers-Danlos syndrome, a rare connective tissue disorder characterized by fragile arterial structure and an increased risk of life-threatening vascular complications...
September 2017: Cardiology in Review
https://www.readbyqxmd.com/read/28734049/development-of-aptamers-against-unpurified-proteins
#12
Shinichi Goto, Kaori Tsukakoshi, Kazunori Ikebukuro
SELEX (Systematic Evolution of Ligands by EXponential enrichment) has been widely used for the generation of aptamers against target proteins. However, its requirement for pure target proteins remains a major problem in aptamer selection, as procedures for protein purification from crude bio-samples are not only complicated but also time and labour consuming. This is because native proteins can be found in a large number of diverse forms because of posttranslational modifications and their complicated molecular conformations...
July 22, 2017: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/28733846/implementation-of-a-standardized-protocol-to-manage-elderly-patients-with-low-energy-pelvic-fractures-can-service-improvement-be-expected
#13
Nikolaos K Kanakaris, Tess Greven, Robert M West, Arie B Van Vugt, Peter V Giannoudis
PURPOSE: The incidence of low energy pelvic fractures (FPFs) in the elderly is increasing. Comorbidities, decreased bone-quality, problematic fracture fixation and poor compliance represent some of their specific difficulties. In the absence of uniform management, a standard operating procedure (SOP) was introduced to our unit, aiming to improve the quality of services provided to these patients. METHODS: A cohort study was contacted to test the impact of (1) using a specific clinical algorithm and (2) using different antiosteoporotic drugs...
July 21, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28730199/the-amorphous-state-first-principles-derivation-of-the-gordon-taylor-equation-for-direct-prediction-of-the-glass-transition-temperature-of-mixtures-estimation-of-the-crossover-temperature-of-fragile-glass-formers-physical-basis-of-the-rule-of-2-3
#14
Peter J Skrdla, Philip D Floyd, Philip C Dell'Orco
Predicting the glass transition temperature (Tg) of mixtures has applications that span across industries and scientific disciplines. By plotting experimentally determined Tg values as a function of the glass composition, one can usually apply the Gordon-Taylor (G-T) equation to determine the slope, k, which subsequently can be used in Tg predictions. Traditionally viewed as a phenomenological/empirical model, this work proposes a physical basis for the G-T equation. The proposed equations allow for the calculation of k directly and, hence, they determine/predict the Tg values of mixtures algebraically...
August 9, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28729046/bone-mineralization-and-fracture-risk-assessment-in-the-pediatric-population
#15
Halley Wasserman, Catherine M Gordon
Identifying children most susceptible to clinically significant fragility fractures (low trauma fractures or vertebral compression fractures) or recurrent fractures is an important issue facing general pediatricians and subspecialists alike. Over the last decade, several imaging technologies, including dual-energy X-ray absorptiometry and peripheral quantitative computed tomography, have become useful to identify abnormal bone mineralization in children and in adolescents. This review aimed to summarize the latest literature on the utility of these modalities as they pertain to use in pediatrics...
July 17, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28724762/stability-of-cucumber-necrosis-virus-at-the-quasi-six-fold-axis-affects-zoospore-transmission
#16
Michael B Sherman, Kishore Kakani, D'Ann Rochon, Wen Jiang, Neil R Voss, Thomas J Smith
Cucumber necrosis virus (CNV) is a member of the genus Tombusvirus and has a monopartite positive-sense RNA genome. CNV is transmitted in nature via zoospores of the fungus, Olpidium bornovanus As with other members of the Tombusvirus genus, the CNV capsid swells when exposed to alkaline pH and EDTA. We previously demonstrated that a P73G mutation blocks the virus from zoospore transmission while not significantly affecting replication in plants (1). P73 lies immediately adjacent to a putative zinc binding site (2) that is formed by three icosahedrally related His residues in the N-termini of the C subunit at the quasi 6-fold axes...
July 19, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28721495/diversity-and-survival-of-artificial-lifeforms-under-sedimentation-and-random-motion
#17
Nicolas Glade, Olivier Bastien, Pascal Ballet
Cellular automata are often used to explore the numerous possible scenarios of what could have occurred at the origins of life and before, during the prebiotic ages, when very simple molecules started to assemble and organise into larger catalytic or informative structures, or to simulate ecosystems. Artificial self-maintained spatial structures emerge in cellular automata and are often used to represent molecules or living organisms. They converge generally towards homogeneous stationary soups of still-life creatures...
July 18, 2017: Theory in Biosciences, Theorie in Den Biowissenschaften
https://www.readbyqxmd.com/read/28720035/home-visiting-and-the-health-of-preterm-infants
#18
Patrick H Casey, Carmen Irby, Sandra Withers, Susan Dorsey, Jingyun Li, Malik Rettiganti
The results of home visiting programs which target medically fragile low-birth-weight preterm infants (LBWPT) have been inconsistent. We provided nurse/social worker home visits to families of LBWPT infants on a regular schedule. Teams were trained in approaches to improve the health and development of the infants. The completion of immunization series was sigmificantly higher and the infant mortality rates of the home visits childen were significanly lower compared to national and state rates. We used state Medicaid data and examined frequency of hospitalization, emergency department visits, routine and nonscheduled visits to primary care physician, and pharmacy use of the home-visited subjects compared with a propensity-matched group...
August 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28697590/prevalence-of-fragile-x-syndrome-among-children-receiving-special-education-and-carrier-states-in-first-degree-relatives
#19
B Chandrasekara, S Wijesundera, S S Chong, H N Perera
Introduction: Fragile X syndrome (FXS) is a genetically determined developmental disorder. Underlying genotype is cytosine-guanine-guanine (CGG) repeat expansions with over 200 repeats in the fragile X mental retardation 1 (FMR1) gene. Children with FXS are most accessible in special education institutions in Sri Lanka, with a total of approximately 6000 registered attendees. Objectives: The aim of the current study was to estimate the prevalence of FXS among special school attendees and to screen first degree relatives of affected children...
June 30, 2017: Ceylon Medical Journal
https://www.readbyqxmd.com/read/28695843/magnetic-impurity-doping-induced-spin-glass-state-and-short-range-zigzag-order-in-the-honeycomb-iridate-na-sub-2-sub-iro-sub-3-sub
#20
Wanping Cai, Zhengren Yan, Rumei Liu, Minghui Qin, Min Zeng, Xubing Lu, Xingsen Gao, Junming Liu
Based on the modied Heisenberg-Kitaev model, the eects of magnetic substitution on the magnetic properties of the honeycomb-lattice iridate Na2IrO3 are studied using Monte Carlo simulations. It is observed that the long-range zigzag state of the original system is rather fragile and can be replaced by a spin-glass state even for small substitution, well consistent with the experimental observation in Ru-substituted samples [Mehlawat, Sharma, and Singh, Phys. Rev. B 92, 134412 (2015)]...
July 11, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
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