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https://www.readbyqxmd.com/read/28646443/recent-discoveries-in-monogenic-disorders-of-childhood-bone-fragility
#1
REVIEW
Riikka E Mäkitie, Anders J Kämpe, Fulya Taylan, Outi Mäkitie
PURPOSE OF REVIEW: This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. RECENT FINDINGS: Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function...
June 23, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28645359/a-fragile-balance-dendritic-spines-learning-and-memory
#2
Ruth F McCann, David A Ross
No abstract text is available yet for this article.
July 15, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28645226/the-fragile-spell-of-desire-a-functional-perspective-on-changes-in-sexual-desire-across-relationship-development
#3
Gurit E Birnbaum
The sexual behavioral system evolved to motivate reproductive acts by arousing sexual desire. Building on the idea that this system has also been "exploited" by evolutionary processes to promote enduring bonds between romantic partners, the present article introduces an integrative model that delineates the functional significance of sexual desire in relationship formation and maintenance. This model explains why individuals' sexual reaction to their partner is context-dependent, clarifying how changes in the nature of interdependence over the course of relationships alter the ways in which specific predictors of sexual desire tend to promote (or inhibit) desire and thereby affect relationship depth and stability...
June 1, 2017: Personality and Social Psychology Review
https://www.readbyqxmd.com/read/28642660/bone-fragility-fracture-risk-and-trauma-a-complicated-triangle-in-children
#4
De-Fa Huang, Deng-Kun Lv, Qi-Lin Zhao, Li-Feng Zhang
OBJECTIVE: To analyze whether association between bone fragility and risk of fracture depends on the trauma level. METHOD: All participants along with their mothers underwent DXA scan and body measurements. The subjects answered a self-report questionnaire about their physical activities and the precipitating causes. The questionnaire results were associated with DXA performed at the baseline visit. RESULTS: A total 374 children with available DXA scan and complete follow-up of 5 years were included in the final analysis...
March 2017: Acta Ortopedica Brasileira
https://www.readbyqxmd.com/read/28641975/engendering-drug-problems-materialising-gender-in-the-dudit-and-other-screening-and-diagnostic-apparatuses
#5
Robyn Dwyer, Suzanne Fraser
It is widely accepted that alcohol and other drug consumption is profoundly gendered. Just where this gendering is occurring, however, remains the subject of debate. We contend that one important and overlooked site where the gendering of substance consumption and addiction is taking place is through AOD research itself: in particular, through the addiction screening and diagnostic tools designed to measure and track substance consumption and problems within populations. These tools establish key criteria and set numerical threshold scores for the identification of problems...
June 19, 2017: International Journal on Drug Policy
https://www.readbyqxmd.com/read/28641957/kindler-syndrome-complicated-by-invasive-squamous-cell-carcinoma-of-the-palate
#6
H Souldi, M Y Bajja, M Mahtar
INTRODUCTION: Kindler syndrome is a very rare, autosomal recessive genodermatosis characterized by skin fragility and photosensitivity in infancy with progressive poikiloderma. CASE REPORT: We report the case of a young woman with a history of Kindler syndrome predominantly characterized by extensive involvement of the oropharyngeal mucosa. The patient presented with an ulcerative lesion of the palate. Computed tomography and biopsy concluded on unresectable invasive squamous cell carcinoma of the hard palate...
June 19, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28641941/role-of-recombination-and-replication-fork-restart-in-repeat-instability
#7
REVIEW
Erica J Polleys, Nealia C M House, Catherine H Freudenreich
Eukaryotic genomes contain many repetitive DNA sequences that exhibit size instability. Some repeat elements have the added complication of being able to form secondary structures, such as hairpin loops, slipped DNA, triplex DNA or G-quadruplexes. Especially when repeat sequences are long, these DNA structures can form a significant impediment to DNA replication and repair, leading to DNA nicks, gaps, and breaks. In turn, repair or replication fork restart attempts within the repeat DNA can lead to addition or removal of repeat elements, which can sometimes lead to disease...
June 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28640668/absence-of-the-fragile-x-mental-retardation-protein-results-in-defects-of-rna-editing-of-neuronal-mrnas-in-mouse
#8
Alice Filippini, Daniela Bonini, Caroline Lacoux, Laura Pacini, Maria Zingariello, Laura Sancillo, Daniela Bosisio, Valentina Salvi, Jessica Mingardi, Luca La Via, Francesca Zalfa, Claudia Bagni, Alessandro Barbon
The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism. Recently, an unexpected function of FMRP in modulating the activity of Adenosine Deaminase Acting on RNA (ADAR) enzymes has been reported both in Drosophila and Zebrafish. ADARs are RNA-binding proteins that increase transcriptional complexity through a post-transcriptional mechanism called RNA editing. In order to evaluate the ADAR2-FMRP interaction in mammals we analysed several RNA editing re-coding sites in the fmr1 knockout (KO) mice...
June 22, 2017: RNA Biology
https://www.readbyqxmd.com/read/28640244/systematic-design-and-comparison-of-expanded-carrier-screening-panels
#9
Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, Gregory J Hogan, Kambiz Karimi, Sophie I Candille, Nikita Mehta, Rebecca Mar-Heyming, K Eerik Kaseniit, H Peter Kang, Eric A Evans, James D Goldberg, Gabriel A Lazarin, Imran S Haque
PurposeThe recent growth in pan-ethnic expanded carrier screening (ECS) has raised questions about how such panels might be designed and evaluated systematically. Design principles for ECS panels might improve clinical detection of at-risk couples and facilitate objective discussions of panel choice.MethodsGuided by medical-society statements, we propose a method for the design of ECS panels that aims to maximize the aggregate and per-disease sensitivity and specificity across a range of Mendelian disorders considered serious by a systematic classification scheme...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28640219/topical-application-of-trisodium-ascorbyl-6-palmitate-2-phosphate-actively-supplies-ascorbate-to-skin-cells-in-an-ascorbate-transporter-independent-manner
#10
Shuichi Shibuya, Ikuyo Sakaguchi, Shintaro Ito, Eiko Kato, Kenji Watanabe, Naotaka Izuo, Takahiko Shimizu
Ascorbic acid (AA) possesses multiple beneficial functions, such as regulating collagen biosynthesis and redox balance in the skin. AA derivatives have been developed to overcome this compound's high fragility and to assist with AA supplementation to the skin. However, how AA derivatives are transferred into cells and converted to AA in the skin remains unclear. In the present study, we showed that AA treatment failed to increase the cellular AA level in the presence of AA transporter inhibitors, indicating an AA transporter-dependent action...
June 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28639660/a-flexible-robust-and-antifouling-asymmetric-membrane-based-on-ultra-long-ceramic-polymeric-fibers-for-high-efficiency-separation-of-oil-water-emulsions
#11
Kui Wang, Wubulikasimu Yiming, Jayaprakash Saththasivam, Zhaoyang Liu
Polymeric and ceramic asymmetric membranes have dominated commercial membranes for water treatment. However, polymeric membranes are prone to becoming fouled, while ceramic membranes are mechanically fragile. Here, we report a novel concept to develop asymmetric membranes based on ultra-long ceramic/polymeric fibers, with the combined merits of good mechanical stability, excellent fouling resistance and high oil/water selectivity, in order to meet the stringent requirements for practical oil/water separation...
June 22, 2017: Nanoscale
https://www.readbyqxmd.com/read/28639252/ethnic-variations-in-serum-25-oh-d-levels-and-bone-ultrasound-attenuation-measurements-in-blacks-and-whites
#12
Rosario Sakamoto, D Thorpe, R Knutsen, L Beeson, S Knutsen
Vitamin D deficiency is more common in Blacks, yet Blacks have lower prevalence of bone fragility fractures or osteoporosis than Whites. Broadband ultrasound attenuation (BUA) has been used to explore the association between serum 25(OH)D levels and bone quality in White and non-white populations. We investigated serum 25(OH)D status with corresponding BUA measurements assessed cross sectionally in a cohort of 232 Blacks and 260 Whites, aged 30-95 years who were part of the calibration study of the large Adventist Health Study-2 (AHS-2)...
June 21, 2017: Journal of Racial and Ethnic Health Disparities
https://www.readbyqxmd.com/read/28636296/-follow-up-of-the-long-term-cancer-survivor
#13
Francesco Sciotto, Céline Py, Petros Tsantoulis
Improvements in diagnosis and treatments explain the notable increase in patients chronically affected or recovering from cancer. This is a fragile population, who is physically, psychologically and socially affected by the consequences of the disease and the associated treatments. In addition to detecting a possible relapse, oncologists and primary care physicians have to deal with a variety of issues like psychological distress, sexual dysfunction, cardiotoxicity, cognitive impairment, fatigue and, in some cases, a second primary cancer...
May 17, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28635106/long-noncoding-rna-and-its-contribution-to-autism-spectrum-disorders
#14
REVIEW
Jie Tang, Yizhen Yu, Wei Yang
Recent studies have indicated that long noncoding RNAs (lncRNAs) play important roles in multiple processes, such as epigenetic regulation, gene expression regulation, development, nutrition-related and other diseases, toxic response, and response to drugs. Although the functional roles and mechanisms of several lncRNAs have been discovered, a better understanding of the vast majority of lncRNAs remains elusive. To understand the functional roles and mechanisms of lncRNAs is critical because these transcripts represent the majority of the transcriptional output of the mammalian genome...
June 20, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28634832/the-fragility-of-randomized-controlled-trials-in-intracranial-hemorrhage
#15
REVIEW
Yanfei Shen, Xuping Cheng, Weimin Zhang
Fragility of randomized controlled trials (RCTs) has been evaluated using a novel metric called fragility index (FI), which measures how many events the statistical significance of a dichotomous outcome depends on. This study aimed to evaluate the fragility of RCTs in intracranial hemorrhage. Literature search (PubMed/Embase) identified all RCTs of intracranial hemorrhage since 2006. The overall distribution of FI was evaluated. Subgroup and spearman correlation analyses were made to explore potential factors that may affect FI value...
June 20, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28634634/pain-and-fracture-related-limitations-persist-6%C3%A2-months-after-a-fragility-fracture
#16
Joanna E M Sale, Lucy Frankel, Stephen Thielke, Larry Funnell
Our objective was to examine the experience of pain after a fracture beyond the conventional healing duration of 6 months. We conducted a phenomenological study in participants who were deemed high risk for future fracture and recruited through an urban fracture clinic in Toronto, Canada. In-depth interviews were conducted with questions addressing the experience of pain, the status of recovery from the fracture, ways in which the fracture affected one's daily activities, and interactions with health care providers...
June 20, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28634578/neonatal-venous-thromboembolism
#17
REVIEW
Kristina M Haley
Neonates are the pediatric population at highest risk for development of venous thromboembolism (VTE), and the incidence of VTE in the neonatal population is increasing. This is especially true in the critically ill population. Several large studies indicate that the incidence of neonatal VTE is up almost threefold in the last two decades. Central lines, fluid fluctuations, sepsis, liver dysfunction, and inflammation contribute to the risk profile for VTE development in ill neonates. In addition, the neonatal hemostatic system is different from that of older children and adults...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28634468/fragile-x-syndrome-prevalence-treatment-and-prevention-in-china
#18
REVIEW
Manman Niu, Ying Han, Angel Belle C Dy, Junbao Du, Hongfang Jin, Jiong Qin, Jing Zhang, Qinrui Li, Randi J Hagerman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. Although FXS has been studied for several decades, there is relatively little basic science or clinical research being performed on FXS in China. Indeed, there is a large gap between China and Western countries in the FXS field. China has a potentially large number of FXS patients. However, many of them are underdiagnosed or even misdiagnosed, and treatments are not always administered in the Chinese population...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28632970/hexaazatriphenylene-based-hydrogen-bonded-organic-framework-with-permanent-porosity-and-single-crystallinity-synthesis-structural-uptaking-and-photophysical-characterization
#19
Ichiro Hisaki, Nobuaki Ikenaka, Eduardo Gomez, Boiko Cohen, Norimitsu Tohnai, Abderrazzak Douhal
Hydrogen-bonded organic frameworks (HOFs) have drawn unprecedented interests because of their high crystallinity as well as facile process for construction, deconstruction, and reassembly arising from reversible bond formation-dissociation. However, structural fragility and low stability frequently prevent formation of robust HOFs with permanent porosity. Herein, we report that hexakis(4-carboxyphenyl)-hexaazatriphenylene (CPHAT) forms three dimensionally networked H-bonded framework CPHAT-1. Interestingly, the activated framework CPHAT-1a retains not only permanent porosity but single-crystallinity, enabling precise structural characterization and property evaluation on a single crystal...
June 20, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28632163/melatonin-as-a-novel-interventional-candidate-for-fragile-x-syndrome-with-autism-spectrum-disorder-in-humans
#20
REVIEW
Jinyoung Won, Yunho Jin, Jeonghyun Choi, Sookyoung Park, Tae Ho Lee, Sang-Rae Lee, Kyu-Tae Chang, Yonggeun Hong
Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation (fmr) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses...
June 20, 2017: International Journal of Molecular Sciences
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