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Functional Disorders

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https://www.readbyqxmd.com/read/29444436/shwachman-diamond-syndrome-protein-sbds-maintains-human-telomeres-by-regulating-telomerase-recruitment
#1
Yi Liu, Feng Liu, Yizhao Cao, Huimin Xu, Yangxiu Wu, Su Wu, Dan Liu, Yong Zhao, Zhou Songyang, Wenbin Ma
Shwachman-Diamond syndrome (SDS) is a rare pediatric disease characterized by various systemic disorders, including hematopoietic dysfunction. The mutation of Shwachman-Bodian-Diamond syndrome (SBDS) gene has been proposed to be a major causative reason for SDS. Although SBDS patients were reported to have shorter telomere length in granulocytes, the underlying mechanism is still unclear. Here we provide data to elucidate the role of SBDS in telomere protection. We demonstrate that SBDS deficiency leads to telomere shortening...
February 13, 2018: Cell Reports
https://www.readbyqxmd.com/read/29444411/understanding-brain-functions-in-children-with-sleep-disordered-breathing
#2
Raouf Amin
No abstract text is available yet for this article.
February 14, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29444338/construct-validity-of-the-heart-failure-screening-tool-heart-fast-to-identify-heart-failure-patients-at-risk-of-poor-self-care-rasch-analysis
#3
Nicholas A Reynolds, Chantal F Ski, Samantha M McEvedy, David R Thompson, Jan Cameron
AIM: To psychometrically evaluate the Heart Failure Screening Tool (Heart-FaST) via: i) examination of internal construct validity; ii) testing of scale function in accordance with design; and iii) recommendation for change/s, if items are not well adjusted, to improve psychometric credential. BACKGROUND: Self-care is vital to the management of heart failure. The Heart-FaST may provide a prospective assessment of risk, regarding the likelihood that patients with heart failure will engage in self-care...
February 14, 2018: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/29444329/gastroesophageal-reflux-symptoms-are-not-sufficient-to-guide-esophageal-function-testing-in-lung-transplant-candidates
#4
S Posner, J Zheng, R K Wood, R A Shimpi, M G Hartwig, S-C Chow, D A Leiman
Gastroesophageal reflux disease and esophageal dysmotility are prevalent in patients with advanced lung disease and are associated with graft dysfunction following lung transplantation. As a result, many transplant centers perform esophageal function testing as part of the wait-listing process but guidelines for testing in this population are lacking. The aim of this study is to describe whether symptoms of gastroesophageal reflux correlate with abnormal results on pH-metry and high-resolution manometry and can be used to identify those who require testing...
February 9, 2018: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/29444252/human-striatal-response-to-reward-anticipation-linked-to-hippocampal-glutamate-levels
#5
Matthijs G Bossong, Robin Wilson, Elizabeth Appiah-Kusi, Philip McGuire, Sagnik Bhattacharyya
Background: Dysfunctional reward processing is associated with a number of psychiatric disorders, such as addiction and schizophrenia. It is thought that reward is regulated mainly by dopamine transmission in the ventral striatum. Contemporary animal models suggest that striatal dopamine concentrations and associated behaviours are related to glutamatergic functioning in the ventral hippocampus. However, in humans the association between reward-related ventral striatal response and hippocampal glutamate levels is unclear...
February 10, 2018: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29444170/genotypic-and-phenotypic-characterization-of-the-sdccag8tn-sb-tyr-2161b-ca1c2ove-mouse-model
#6
Katie Weihbrecht, Wesley A Goar, Calvin S Carter, Val C Sheffield, Seongjin Seo
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. To better understand the patho-mechanisms of NPHP and BBS caused by loss of SDCCAG8 function, we characterized an SDCCAG8 mouse model (Sdccag8Tn(sb-Tyr)2161B...
2018: PloS One
https://www.readbyqxmd.com/read/29444145/waggawagga-cli-a-command-line-tool-for-predicting-stable-single-%C3%AE-helices-sah-domains-and-the-sah-domain-distribution-across-eukaryotes
#7
Dominic Simm, Martin Kollmar
Stable single-alpha helices (SAH-domains) function as rigid connectors and constant force springs between structural domains, and can provide contact surfaces for protein-protein and protein-RNA interactions. SAH-domains mainly consist of charged amino acids and are monomeric and stable in polar solutions, characteristics which distinguish them from coiled-coil domains and intrinsically disordered regions. Although the number of reported SAH-domains is steadily increasing, genome-wide analyses of SAH-domains in eukaryotic genomes are still missing...
2018: PloS One
https://www.readbyqxmd.com/read/29444093/the-high-prevalence-of-playing-related-musculoskeletal-disorders-prmds-and-its-associated-factors-in-amateur-musicians-playing-in-student-orchestras-a-cross-sectional-study
#8
Laura M Kok, Karlijn A Groenewegen, Bionka M A Huisstede, Rob G H H Nelissen, A Boni M Rietveld, Saskia Haitjema
OBJECTIVE: Despite the high number of amateur musicians in the general population, little is known about the musculoskeletal health of amateur musicians. Playing a musical instrument is supposed to be a risk factor for the development of musculoskeletal complaints. This study aimed to evaluate playing-related musculoskeletal disorders (PRMDs) among amateur musicians playing in student orchestras. DESIGN: A cross-sectional study. PARTICIPANTS: 357 members of eleven Dutch student orchestras across the Netherlands were included in this study...
2018: PloS One
https://www.readbyqxmd.com/read/29443933/mental-health-interventions-for-parent-carers-of-children-with-autistic-spectrum-disorder-practice-guidelines-from-a-critical-interpretive-synthesis-cis-systematic-review
#9
REVIEW
Denise Catalano, Linda Holloway, Elias Mpofu
Parent carers of children with Autism Spectrum Disorder (ASD) often report increased levels of stress, depression, and anxiety. Unmet parent carer mental health needs pose a significant risk to the psychological, physical, and social well-being of the parents of the child affected by ASD and jeopardize the adaptive functioning of the family as well as the potential of the child affected by ASD. This systematic review identifies key qualities of interventions supporting the mental health of parent carers and proposes practitioner-parent carer support guidelines...
February 14, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29443755/argininemia-as-a-cause-of-severe-chronic-stunting-and-partial-growth-hormone-deficiency-pghd-a-case-report
#10
Xiaotang Cai, Dan Yu, Yongmei Xie, Hui Zhou
RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood. PATIENT CONCERNS: A Chinese boy initially presented with severe stunting and partial growth hormone deficiency (PGHD) at 3 years old and was initially treated with growth hormone replacement therapy...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29443458/the-functional-and-psychological-burden-of-empty-nose-syndrome
#11
Jamil Manji, Jayakar V Nayak, Andrew Thamboo
BACKGROUND: Empty nose syndrome (ENS) is a debilitating disorder thought to arise as a postsurgical phenomenon from excessive loss of nasal tissues. Affected patients often report a profound impact on all aspects of life, but the extent of this burden has not been quantified. We sought to determine the association of ENS with mental health and functional impairments. METHODS: A cross-sectional study was performed of individuals with ENS recruited from online ENS forums...
February 14, 2018: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/29443421/diabetes-uk-evidence-based-nutrition-guidelines-for-the-prevention-and-management-of-diabetes
#12
P A Dyson, D Twenefour, C Breen, A Duncan, E Elvin, L Goff, A Hill, P Kalsi, N Marsland, P McCardle, D Mellor, L Oliver, K Watson
A summary of the latest evidence-based nutrition guidelines for the prevention and management of diabetes is presented. These guidelines are based on existing recommendations last published in 2011, and were formulated by an expert panel of specialist dietitians after a literature review of recent evidence. Recommendations have been made in terms of foods rather than nutrients wherever possible. Guidelines for education and care delivery, prevention of Type 2 diabetes, glycaemic control for Type 1 and Type 2 diabetes, cardiovascular disease risk management, management of diabetes-related complications, other considerations including comorbidities, nutrition support, pregnancy and lactation, eating disorders, micronutrients, food supplements, functional foods, commercial diabetic foods and nutritive and non-nutritive sweeteners are included...
February 14, 2018: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29443059/in-vivo-electrophysiological-measurement-of-the-rat-ulnar-nerve-with-axonal-excitability-testing
#13
Brandon M Wild, Renée Morris, Mihai Moldovan, Christian Krarup, Arun V Krishnan, Ria Arnold
Electrophysiology enables the objective assessment of peripheral nerve function in vivo. Traditional nerve conduction measures such as amplitude and latency detect chronic axon loss and demyelination, respectively. Axonal excitability techniques "by threshold tracking" expand upon these measures by providing information regarding the activity of ion channels, pumps and exchangers that relate to acute function and may precede degenerative events. As such, the use of axonal excitability in animal models of neurological disorders may provide a useful in vivo measure to assess novel therapeutic interventions...
February 6, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29442920/investigation-of-disorder-in-mixed-phase-sp-%C3%A2-sp-%C3%A2-bonded-graphene-like-nanocarbon
#14
Sumati Patil, Sadhu Kolekar, Arvind Kumar, Prashant Alegaonkar, Suwarna Datar, C V Dharmadhikari
Disorder in a mixed phase, sp2-sp3 bonded graphene-like nanocarbon (GNC) lattice has been extensively studied for its electronic and field emission properties. Morphological investigations are performed using scanning electron microscopy (SEM) which depicts microstructures comprising of atomically flat terraces (c-planes) with an abundance of edges (ab planes which are orthogonal to c-planes). Scanning tunneling microscopy (STM) is used to observe the atomic structure of basal planes whereas field emission microscopy (FEM) is found to be suitable for resolving nanotopography of edges...
April 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29442806/hetero-functionalized-gold-nanoparticles-to-silence-au-rich-element-containing-mrnas-in-rage-expressing-inflammatory-cells-preparation-characterization-and-in-vitro-evaluation
#15
Gokila Devi Mathialagan, Narkunaraja Shanmugam
Diabetes, a chronic metabolic disorder associated with significantly accelerated rates of inflammation. Gold nanoparticle plays a crucial role in biomedical applications. We described the development of hetero-functionalized gold nanoparticles (hfAuNPs) for targeted selective gene silencing by RNAi interference. This hfAuNPs was developed by parallelly conjugating biotinylated ARE-siRNA (siRNA to Adenosine Uridine-rich elements) and biotinylated RAGE interacting-peptide (RIP) to streptavidin coated gold nanoparticles (aAuNPs) thus forms a complex that provides biocompatibility and functionality in a physiological environment...
May 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29442691/insulator-to-semiconductor-to-conductor-phase-like-transition-of-dna-chains
#16
C A Plazas, K M Fonseca-Romero, R R Rey-González
Using a tight-binding model, we study the transport of charge carriers through DNA molecular wires. In double-stranded DNA chains, according to Chargaff's rules, only Adenine-Thymine (AT) and Cytosine-Guanine (CG) pairs are allowed. In our model, a decimation procedure allows us to represent each pair of bases by a single site with one localized electronic state. We consider chains of different lengths with only AT (CG) sites, and ordered and disordered chains with both types of sites. Disordered chains may include short range correlation...
July 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29442663/cuttlefish-ink-tagged-photonic-crystal-particles-and-their-ion-responsive-construction
#17
Qionghua Xu, Huan Wang, Fanfan Fu, Cihui Liu, Zhuoyue Chen, Yuanjin Zhao
Colloidal crystal materials have potential values in coding, sensing, displaying and so on. Attempts to promote these values tend to focus on the development of functional colloidal crystal materials with high color saturations and bright structural colors for practical applications. Thus, this work presented novel cuttlefish ink nanoparticles doped colloidal crystal particle material, which had distinguishable and high saturation colors, and could response to the electric field and pH obviously. It was also found that the doping could result in a short-range order and long-range disorder structure of the colloidal crystals, which endowed them with wide viewing angles...
July 1, 2018: Journal of Nanoscience and Nanotechnology
https://www.readbyqxmd.com/read/29442522/the-impact-of-ptsd-clusters-on-cannabis-use-in-a-racially-diverse-trauma-exposed-sample-an-analysis-from-ecological-momentary-assessment
#18
Julia D Buckner, Emily R Jeffries, Ross D Crosby, Michael J Zvolensky, Courtenay E Cavanaugh, Stephen A Wonderlich
BACKGROUND: Accumulating evidence indicates a link between post-traumatic stress disorder (PTSD) and cannabis use and suggests that this link may vary as a function of the PTSD symptom cluster type. Consistent with negative reinforcement models of substance use, individuals with elevated Cluster D (Hyperarousal) symptoms may be more likely to use cannabis in response to elevated state anxiety and experience decreases in state anxiety after using cannabis. OBJECTIVES: We aimed to test hypotheses that the interaction of Cluster D and state anxiety would be related to subsequent cannabis use and that those with elevated Cluster D symptoms who used cannabis would report the greatest decreases in state anxiety...
February 14, 2018: American Journal of Drug and Alcohol Abuse
https://www.readbyqxmd.com/read/29442498/proteostasis-and-the-regulation-of-intra-and-extracellular-protein-aggregation-by-atp-independent-molecular-chaperones-lens-%C3%AE-crystallins-and-milk-caseins
#19
John A Carver, Heath Ecroyd, Roger J W Truscott, David C Thorn, Carl Holt
Molecular chaperone proteins perform a diversity of roles inside and outside the cell. One of the most important is the stabilization of misfolding proteins to prevent their aggregation, a process that is potentially detrimental to cell viability. Diseases such as Alzheimer's, Parkinson's, and cataract are characterized by the accumulation of protein aggregates. In vivo, many proteins are metastable and therefore under mild destabilizing conditions have an inherent tendency to misfold, aggregate, and hence lose functionality...
February 14, 2018: Accounts of Chemical Research
https://www.readbyqxmd.com/read/29442378/-shine-bright-like-a-diamond-is-research-on-high-functioning-adhd-at-last-entering-the-mainstream
#20
EDITORIAL
Klaus-Peter Lesch
The paper by Greven and colleagues (this issue) is intensifying discussion how research on attention-deficit/hyperactivity disorder (ADHD) can be moved away from the deficit-focused view to a concept, which is oriented towards resources a patient might be able to recruit to function at a high-level despite impairments. To promote understanding of high-functioning (HF)-ADHD, more longitudinal studies are required employing neuropsychologic, neuroimaging and neurobiologic approaches, with focus on compensatory mechanisms during fronto-striatal-amygdala maturation and adult plasticity as well as epigenetic modification marker screening strategies to identify homoeostatic processes of resilience in endophenotypic traits related to coping styles of target groups...
March 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
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