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https://www.readbyqxmd.com/read/28335910/management-strategies-for-cln2-disease
#1
REVIEW
Ruth E Williams, Heather R Adams, Martin Blohm, Jessica L Cohen-Pfeffer, Emily de Los Reyes, Jonas Denecke, Kristen Drago, Charlie Fairhurst, Margie Frazier, Norberto Guelbert, Szilárd Kiss, Annamaria Kofler, John A Lawson, Lenora Lehwald, Mary-Anne Leung, Svetlana Mikhaylova, Jonathan W Mink, Miriam Nickel, Renée Shediac, Katherine Sims, Nicola Specchio, Meral Topcu, Ina von Löbbecke, Andrea West, Boris Zernikow, Angela Schulz
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability...
April 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28330312/isolation-and-screening-of-l-asparaginase-free-of-glutaminase-and-urease-from-fungal-sp
#2
Kruthi Doriya, Devarai Santhosh Kumar
L-Asparaginase is a chemotherapeutic drug used in the treatment of acute lymphoblastic leukaemia (ALL), a malignant disorder in children. L-Asparaginase helps in removing acrylamide found in fried and baked foods that is carcinogenic in nature. L-Asparaginase is present in plants, animals and microbes. Various microorganisms such as bacteria, yeast and fungi are generally used for the production of L-asparaginase as it is difficult to obtain the same from plants and animals. L-Asparaginase from bacteria causes anaphylaxis and other abnormal sensitive reactions due to low specificity to asparagine...
December 2016: 3 Biotech
https://www.readbyqxmd.com/read/28320224/identification-of-common-neural-circuit-disruptions-in-cognitive-control-across-psychiatric-disorders
#3
Lisa M McTeague, Julia Huemer, David M Carreon, Ying Jiang, Simon B Eickhoff, Amit Etkin
OBJECTIVE: Cognitive deficits are a common feature of psychiatric disorders. The authors investigated the nature of disruptions in neural circuitry underlying cognitive control capacities across psychiatric disorders through a transdiagnostic neuroimaging meta-analysis. METHOD: A PubMed search was conducted for whole-brain functional neuroimaging articles published through June 2015 that compared activation in patients with axis I disorders and matched healthy control participants during cognitive control tasks...
March 21, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28295339/annual-research-review-childhood-maltreatment-latent-vulnerability-and-the-shift-to-preventative-psychiatry-the-contribution-of-functional-brain-imaging
#4
REVIEW
Eamon J McCrory, Mattia I Gerin, Essi Viding
BACKGROUND: Childhood maltreatment is a potent predictor of poor mental health across the life span. We argue that there is a need to improve the understanding of the mechanisms that confer psychiatric vulnerability following maltreatment, if we are to progress from simply treating those with a manifest disorder, to developing effective preventative approaches that can help offset the likelihood that such disorders will emerge in the first place. METHODS: We review extant functional neuroimaging studies of children and adolescents exposed to early neglect and/or maltreatment, including physical, sexual and emotional abuse across four neurocognitive domains: threat processing, reward processing, emotion regulation and executive control...
April 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28275980/-1-h-15-n-13-c-resonance-assignment-of-plant-dehydrin-early-response-to-dehydration-10-erd10
#5
Cesyen Cedeño, Szymon Żerko, Peter Tompa, Wiktor Koźmiński
Early response to dehydration 10 protein (ERD10) is an intrinsically disordered protein from Arabidopsis thaliana. The protein is upregulated during stress however its mechanism of action at atomic level is not well understood. In the present work multidimensional NMR methodologies are used in order to facilitate the process of chemical shift assignment. The information provided here supports further NMR spectroscopy experiments aimed at elucidation of ERD10 behaviour during molecular recognition events with other proteins...
March 8, 2017: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/28261479/neurocognitive-functions-and-social-functioning-in-young-females-with-recent-onset-anorexia-nervosa-and-recovered-individuals
#6
Mette Bentz, Jens Richardt Moellegaard Jepsen, Gry Kjaersdam Telléus, Ulla Moslet, Tine Pedersen, Cynthia M Bulik, Kerstin Jessica Plessen
BACKGROUND: Young individuals with anorexia nervosa (AN) or recovered from AN display impairments of social function. To date, however, it is not clear whether they differ from controls with respect to neurocognitive performance and whether those functions contribute to the compromised social function observed in individuals with AN. METHODS: We included 43 young females with first-episode AN, 28 individuals recovered from adolescent-onset AN, and 41 control individuals (14-22 yr), all without comorbid autism spectrum disorder...
2017: Journal of Eating Disorders
https://www.readbyqxmd.com/read/28257006/solid-state-nmr-and-short-range-order-in-crystalline-oxides-and-silicates-a-new-tool-in-paramagnetic-resonances
#7
Jonathan F Stebbins, Ryan J McCarty, Aaron C Palke
Most applications of high-resolution NMR to questions of short-range order/disorder in inorganic materials have been made in systems where ions with unpaired electron spins are of negligible concentration, with structural information extracted primarily from chemical shifts, quadrupolar coupling parameters, and nuclear dipolar couplings. In some cases, however, the often-large additional resonance shifts caused by interactions between unpaired electron and nuclear spins can provide unique new structural information in materials with contents of paramagnetic cations ranging from hundreds of ppm to several per cent and even higher...
March 1, 2017: Acta Crystallographica. Section C, Structural Chemistry
https://www.readbyqxmd.com/read/28244020/air-travel-circadian-rhythms-hormones-and-autoimmunity
#8
REVIEW
J Torres-Ruiz, A Sulli, M Cutolo, Y Shoenfeld
Biological rhythms are fundamental for homeostasis and have recently been involved in the regulatory processes of various organs and systems. Circadian cycle proteins and hormones have a direct effect on the inflammatory response and have shown pro- or anti-inflammatory effects in animal models of autoimmune diseases. The cells of the immune system have their own circadian rhythm, and the light-dark cycle directly influences the inflammatory response. On the other hand, patients with autoimmune diseases characteristically have sleep disorders and fatigue, and in certain disease, such as rheumatoid arthritis (RA), a frank periodicity in the signs and symptoms is recognized...
February 27, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28242338/the-relationship-between-impulse-control-disorders-and-cognitive-dysfunctions-in-parkinson-s-disease-a-meta-analysis
#9
REVIEW
Gabriella Santangelo, Simona Raimo, Paolo Barone
Impulse Control Disorders (ICD) are associated with impairment in cognitive flexibility and cortical inhibition. In Parkinson's Disease (PD) the relationship between ICD and cognitive dysfunctions is still unclear: some studies found different cognitive profiles between Parkinsonians with and without ICD, whereas others did not. Moreover, findings from studies on ICD in PD are conflicting on which cognitive function is altered. A meta-analysis of 34 studies was performed to shed light on relationship between ICD and cognitive dysfunctions and to reveal the cognitive function compromised in Parkinsonians with ICD...
February 24, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28240944/a-brief-tool-to-differentiate-factors-contributing-to-insomnia-complaints
#10
Donald Townsend, Louis Kazaglis, Kay Savik, Adam Smerud, Conrad Iber
OBJECTIVE: A complaint of insomnia may have many causes. A brief tool examining contributing factors may be useful for nonsleep specialists. This study describes the development of the Insomnia Symptoms Assessment (ISA) for examining insomnia complaints. METHOD: ISA questions were designed to identify symptoms that may represent 1 of 8 possible factors contributing to insomnia symptoms, including delayed sleep phase syndrome (DSPS), shift work sleep disorder (SWSD), obstructive sleep apnea (OSA), mental health, chronic pain, restless leg syndrome (RLS), poor sleep hygiene, and psychophysiological insomnia (PI)...
March 2017: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/28223962/molecular-mechanisms-in-mood-regulation-involving-the-circadian-clock
#11
REVIEW
Urs Albrecht
The circadian system coordinates activities and functions in cells and tissues in order to optimize body functions in anticipation to daily changes in the environment. Disruption of the circadian system, due to irregular lifestyle such as rotating shift work, frequent travel across time-zones, or chronic stress, is correlated with several diseases such as obesity, cancer, and neurological disorders. Molecular mechanisms linking the circadian clock with neurological functions have been uncovered suggesting that disruption of the clock may be critically involved in the development of mood disorders...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28214594/association-between-light-at-night-melatonin-secretion-sleep-deprivation-and-the-internal-clock-health-impacts-and-mechanisms-of-circadian-disruption
#12
REVIEW
Yvan Touitou, Alain Reinberg, David Touitou
Exposure to Artificial Light At Night (ALAN) results in a disruption of the circadian system, which is deleterious to health. In industrialized countries, 75% of the total workforce is estimated to have been involved in shift work and night work. Epidemiologic studies, mainly of nurses, have revealed an association between sustained night work and a 50-100% higher incidence of breast cancer. The potential and multifactorial mechanisms of the effects include the suppression of melatonin secretion by ALAN, sleep deprivation, and circadian disruption...
March 15, 2017: Life Sciences
https://www.readbyqxmd.com/read/28203201/modulation-of-synaptic-plasticity-in-the-cortex-needs-to-understand-all-the-players
#13
REVIEW
Claire N J Meunier, Pascal Chameau, Philippe M Fossier
The prefrontal cortex (PFC) is involved in cognitive tasks such as working memory, decision making, risk assessment and regulation of attention. These functions performed by the PFC are supposed to rely on rhythmic electrical activity generated by neuronal network oscillations determined by a precise balance between excitation and inhibition balance (E/I balance) resulting from the coordinated activities of recurrent excitation and feedback and feedforward inhibition. Functional alterations in PFC functions have been associated with cognitive deficits in several pathologies such as major depression, anxiety and schizophrenia...
2017: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/28198811/%C3%AE-thalassemia-patients-revealed-a-significant-change-of-untargeted-metabolites-in-comparison-to-healthy-individuals
#14
Syed Ghulam Musharraf, Ayesha Iqbal, Saqib Hussain Ansari, Sadia Parveen, Ishtiaq Ahmad Khan, Amna Jabbar Siddiqui
β-Thalassemia is one of the most prevalent forms of congenital blood disorders characterized by reduced hemoglobin levels with severe complications, affecting all dimensions of life. The mechanisms underlying the phenotypic heterogeneity of β-thalassemia are still poorly understood. We aimed to work over metabolite biomarkers to improve mechanistic understanding of phenotypic heterogeneity and hence better management of disorder at different levels. Untargeted serum metabolites were analyzed after protein precipitation and SPE (solid phase extraction) from 100 β-thalassemia patients and 61 healthy controls using GC-MS...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28195660/facilitators-and-barriers-to-the-adoption-of-ergonomic-solutions-in-construction
#15
Ann Marie Dale, Lisa Jaegers, Laura Welch, Ellen Barnidge, Nancy Weaver, Bradley A Evanoff
BACKGROUND: Rates of musculoskeletal disorders in construction remain high. Few studies have described barriers and facilitators to the use of available ergonomic solutions. This paper describes these barriers and facilitators and their relationship to the level of adoption. METHODS: Three analysts rated 16 proposed ergonomic solutions from a participatory ergonomics study and assessed the level of adoption, six adoption characteristics, and identified the category of adoption from a theoretical model...
March 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/28182562/in-silico-modeling-of-the-functional-role-of-reduced-sialylation-in-sodium-and-potassium-channel-gating-of-mouse-ventricular-myocytes
#16
Dongping Du, Hui Yang, Andrew R Ednie, Eric S Bennett
Cardiac ion channels are highly glycosylated membrane proteins, with up to 30% of the protein's mass containing glycans. Heart diseases often accompany individuals with congenital disorders of glycosylation (CDG). However, cardiac dysfunction among CDG patients is not yet fully understood. There is an urgent need to study how aberrant glycosylation impacts cardiac electrical signaling. Our previous works reported that congenitally reduced sialylation achieved through deletion of the sialyltransferase gene, ST3Gal4, leads to altered gating of voltage-gated Na+ and K+ channels (Nav and Kv, respectively)...
February 6, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28173798/spasmogenic-and-spasmolytic-activity-of-rind-of-punica-granatum-linn
#17
Niaz Ali, Ayesha Jamil, Syed Wadood Ali Shah, Ismail Shah, Ghayour Ahmed
BACKGROUND: Rind of Punica granatum is traditionally used in treatment of abdominal cramps and various GIT disorders. So far spasmolytic activity of rind of Punica granatum has been reported using in vitro model. However, its mode of action is not explored yet. Therefore, the current work describes the possible mode of action for spasmolytic activity of methanolic extract of rind of Punica granatum (Pg. Cr). Acute toxicity study is also performed to determine its safe dose range. METHODS: Rind of Punica granatum was subjected to shade drying...
February 7, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28167329/the-role-of-set-shifting-in-auditory-verbal-hallucinations
#18
Sara Siddi, Donatella Rita Petretto, Caterina Burrai, Rosanna Scanu, Antonella Baita, Pierfranco Trincas, Emanuela Trogu, Liliana Campus, Augusto Contu, Antonio Preti
BACKGROUND: Auditory verbal hallucinations (AVHs) are a cardinal characteristic of psychosis. Recent research on the neuropsychological mechanism of AVHs has focused on source monitoring failure, but a few studies have suggested the involvement of attention, working memory, processing speed, verbal learning, memory, and executive functions. In this study we examined the neuropsychological profile of patients with AVHs, assuming that the mechanism underlying this symptom could be a dysfunction of specific cognitive domains...
January 21, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28167115/association-between-autistic-traits-and-emotion-adaptation-to-partially-occluded-faces
#19
Chengwen Luo, Edwin Burns, Hong Xu
Prolonged exposure to a happy face makes subsequently presented faces appear sadder: the facial emotion aftereffect (FEA). People with autism spectrum disorders and their relatives have diminished holistic perception of faces. Levels of autism can be measured continuously in the general population by autistic traits using the autism-quotient (AQ). Prior work has not found any association between AQ and FEA in adults, possibly due to non-holistic processing strategies employed by those at the higher end of the spectrum...
February 16, 2017: Vision Research
https://www.readbyqxmd.com/read/28157094/treadmill-exercise-exerts-neuroprotection-and-regulates-microglial-polarization-and-oxidative-stress-in-a-streptozotocin-induced-rat-model-of-sporadic-alzheimer-s-disease
#20
Yujiao Lu, Yan Dong, Donovan Tucker, Ruimin Wang, Mohammad Ejaz Ahmed, Darrell Brann, Quanguang Zhang
Recent work has suggested that exercise may be beneficial in preventing or ameliorating symptoms of several neurological disorders, although the mechanism is not entirely understood. The current study was designed to examine the potential beneficial effect of treadmill exercise upon cognitive function in a streptozotocin (STZ)-induced rat model of Alzheimer's disease (AD). Animals underwent treadmill exercise (30 min/day, 5 days/week) for 4 weeks after bilateral STZ intracerebroventricular injection (2.4 mg/kg)...
2017: Journal of Alzheimer's Disease: JAD
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