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https://www.readbyqxmd.com/read/28820193/a-modeling-study-of-methane-hydrate-decomposition-in-contact-with-the-external-surface-of-zeolites
#1
Konstantin S Smirnov
The behavior of methane hydrate (MH) enclosed between the (010) surfaces of the silicalite-1 zeolite was studied by means of molecular dynamics simulations at temperatures of 150 and 250 K. Calculations reveal that the interaction with the hydrophilic surface OH groups destabilizes the clathrate structure of hydrate. While MH mostly conserves the structure in the simulation at the low temperature, thermal motion at the high temperature breaks the fragilized cages of H-bonded water molecules, thus leading to the release of methane...
August 18, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#2
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28819289/escrt-iii-membrane-trafficking-misregulation-contributes-to-fragile-x-syndrome-synaptic-defects
#3
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/28818679/improved-assays-for-agg-interruptions-in-fragile-x-premutation-carriers
#4
Bruce E Hayward, Karen Usdin
The learning disability fragile X syndrome results from the presence of >200 CGG/CCG-repeats in exon 1 of the X-linked gene FMR1. Such alleles arise by expansion from maternally transmitted FMR1 premutation alleles, alleles having 55 to 200 repeats. Expansion risk is directly related to maternal repeat number. However, AGG interruptions to the repeat tract are important modifiers of expansion risk. Thus, the ability to identify such interruptions is crucial for the appropriate genetic counseling of women who are premutation carriers...
August 14, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28818232/review-of-the-endothelial-pathogenic-mechanism-of-tie2-related-venous-malformation
#5
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/28816346/homocysteine-lowering-interventions-for-preventing-cardiovascular-events
#6
REVIEW
Arturo J Martí-Carvajal, Ivan Solà, Dimitrios Lathyris, Mark Dayer
BACKGROUND: Cardiovascular disease, which includes coronary artery disease, stroke and peripheral vascular disease, is a leading cause of death worldwide. Homocysteine is an amino acid with biological functions in methionine metabolism. A postulated risk factor for cardiovascular disease is an elevated circulating total homocysteine level. The impact of homocysteine-lowering interventions, given to patients in the form of vitamins B6, B9 or B12 supplements, on cardiovascular events has been investigated...
August 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28816242/effect-of-the-mglur5-nam-basimglurant-on-behavior-in-adolescents-and-adults-with-fragile-x-syndrome-in-a-randomized-double-blind-placebo-controlled-trial-fragxis-phase-2-results
#7
Eriene A Youssef, Elizabeth Berry-Kravis, Christian Czech, Randi J Hagerman, David Hessl, Chin Y Wong, Michael Rabbia, Dennis Deptula, Amy John, Russell Kinch, Philip Drewitt, Lothar Lindemann, Moritz Marcinowski, Rachel Langland, Carsten Horn, Paulo Fontoura, Luca Santarelli, Jorge A Quiroz
Preclinical data suggests that inhibition of the mGluR5 receptor might hold therapeutic benefits in Fragile X syndrome (FXS). Treatment of Fmr1 knockout mice with mGluR5-negative allosteric modulators (NAMs) has been reported to correct a broad range of phenotypes related to FXS. The early short-term clinical trials with mGluR5 NAMs, including basimglurant, assessing the effects in individuals with FXS, were supportive of further exploration in larger, well-controlled trials. We evaluated basimglurant, a potent and selective mGluR5 NAM, in a 12-week, double-blind, parallel-group study of 183 adults and adolescents (aged 14-50, mean 23...
August 17, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28815953/epilepsy-in-fragile-x-syndrome-mimicking-panayiotopoulos-syndrome-description-of-three-patients
#8
Paolo Bonanni, Susanna Casellato, Franco Fabbro, Susanna Negrin
Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815939/paternal-transmission-of-a-fmr1-full-mutation-allele
#9
Maria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, Irene Madrigal, Elisabeth Gabau, Montserrat Milà
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome is a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. It is inherited as an X linked dominant trait, with a reduced penetrance (80% for males and 30% for females). Full mutation (FM) expansion from premutated alleles (PM) is only acquired via maternal meiosis, while paternal transmission always remains in the PM range. We present a 16-year-old girl with a mild fragile X syndrome phenotype...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815389/spine-bone-mineral-density-increases-after-6%C3%A2-months-of-exclusive-lactation-even-in-women-who-keep-breastfeeding
#10
Sandra Cooke-Hubley, Beth J Kirby, James E Valcour, Gerald Mugford, Jonathan D Adachi, Christopher S Kovacs
This pilot study enrolled 31 women who had breastfed exclusively for 6 months. Lumbar and thoracic BMD increased 4 and 5%, respectively. Femoral neck and total body BMD did not change. Return of menses and progestin-only pill use were two potential signals that predicted a greater increase in BMD. PURPOSE/INTRODUCTION: The skeleton is resorbed during lactation to provide much of the calcium content of milk. After lactation ceases, these deficits in skeletal mineral content are largely restored, such that lactation has a neutral or protective effect against the long-term risk of low bone mineral density (BMD), osteoporosis, and fragility fractures...
August 16, 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28814842/bfh-ostm-a-new-predictive-screening-tool-for-identifying-osteoporosis-in-elderly-han-chinese-males
#11
JiSheng Lin, Yong Yang, XiaoDong Zhang, Zhao Ma, Hao Wu, Yongjin Li, Xiuquan Yang, Qi Fei, Ai Guo
PURPOSE: To develop and validate a new clinical screening tool to identify primary osteoporosis by dual-energy X-ray absorptiometry (DXA) in two elderly Han Chinese male populations. METHODS: A cross-sectional study was conducted, enrolling 1,870 community-dwelling and 574 hospital-checkup elderly Han Chinese males aged ≥50 years. All subjects completed a structured questionnaire and had their bone mineral density (BMD) measured using DXA. Using logistic regression analysis in the 1,870 community-dwelling males, we assessed the ability of numerous potential clinical risk factors to identify male with osteoporosis...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28814761/transplantation-of-bioengineered-rat-lungs-recellularized-with-endothelial-and-adipose-derived-stromal-cells
#12
Ryoichiro Doi, Tomoshi Tsuchiya, Norisato Mitsutake, Satoshi Nishimura, Mutsumi Matsuu-Matsuyama, Yuka Nakazawa, Tomoo Ogi, Sadanori Akita, Hiroshi Yukawa, Yoshinobu Baba, Naoya Yamasaki, Keitaro Matsumoto, Takuro Miyazaki, Ryotaro Kamohara, Go Hatachi, Hideyori Sengyoku, Hironosuke Watanabe, Tomohiro Obata, Laura E Niklason, Takeshi Nagayasu
Bioengineered lungs consisting of a decellularized lung scaffold that is repopulated with a patient's own cells could provide desperately needed donor organs in the future. This approach has been tested in rats, and has been partially explored in porcine and human lungs. However, existing bioengineered lungs are fragile, in part because of their immature vascular structure. Herein, we report the application of adipose-derived stem/stromal cells (ASCs) for engineering the pulmonary vasculature in a decellularized rat lung scaffold...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814542/fragile-x-newborn-screening-lessons-learned-from-a-multisite-screening-study
#13
Donald B Bailey, Elizabeth Berry-Kravis, Louise W Gane, Sonia Guarda, Randi Hagerman, Cynthia M Powell, Flora Tassone, Anne Wheeler
BACKGROUND: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study. METHODS: Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28814541/assessing-the-fragile-x-syndrome-newborn-screening-landscape
#14
Catharine Riley, Anne Wheeler
BACKGROUND: Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification. METHODS: A literature review was conducted to identify issues, barriers, challenges, and approaches to addressing challenges related to NBS for FXS...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28814540/autism-spectrum-disorder-in-fragile-x-syndrome-cooccurring-conditions-and-current-treatment
#15
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, Elizabeth Berry-Kravis
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28814539/forward-a-registry-and-longitudinal-clinical-database-to-study-fragile-x-syndrome
#16
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/28814538/implications-of-the-fmr1-premutation-for-children-adolescents-adults-and-their-families
#17
Anne Wheeler, Melissa Raspa, Randi Hagerman, Marsha Mailick, Catharine Riley
BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for children and adolescents with an FMR1 premutation, including possible implications into adulthood...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28814537/public-health-literature-review-of-fragile-x-syndrome
#18
Melissa Raspa, Anne C Wheeler, Catharine Riley
OBJECTIVES: The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. METHODS: An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28814536/the-future-of-fragile-x-syndrome-cdc-stakeholder-meeting-summary
#19
Catharine Riley, Marsha Mailick, Elizabeth Berry-Kravis, Julie Bolen
No abstract text is available yet for this article.
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28813478/development-and-validation-of-a-multi-dimensional-measure-of-intellectual-humility
#20
Mark Alfano, Kathryn Iurino, Paul Stey, Brian Robinson, Markus Christen, Feng Yu, Daniel Lapsley
This paper presents five studies on the development and validation of a scale of intellectual humility. This scale captures cognitive, affective, behavioral, and motivational components of the construct that have been identified by various philosophers in their conceptual analyses of intellectual humility. We find that intellectual humility has four core dimensions: Open-mindedness (versus Arrogance), Intellectual Modesty (versus Vanity), Corrigibility (versus Fragility), and Engagement (versus Boredom). These dimensions display adequate self-informant agreement, and adequate convergent, divergent, and discriminant validity...
2017: PloS One
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