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Brain Sciences

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https://read.qxmd.com/read/30769941/the-contribution-of-pluripotent-stem-cell-psc-based-models-to-the-study-of-fragile-x-syndrome-fxs
#1
REVIEW
Manar Abu Diab, Rachel Eiges
Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a deficiency in the fragile X mental retardation protein (FMRP) due to a CGG repeat expansion in the 5'-UTR of the X-linked FMR1 gene. When CGGs expand beyond 200 copies, they lead to epigenetic gene silencing of the gene. In addition, the greater the allele size, the more likely it will become unstable and exhibit mosaicism for expansion size between and within tissues in affected individuals. The timing and mechanisms of FMR1 epigenetic gene silencing and repeat instability are far from being understood given the lack of appropriate cellular and animal models that can fully recapitulate the molecular features characteristic of the disease pathogenesis in humans...
February 15, 2019: Brain Sciences
https://read.qxmd.com/read/30769825/corticospinal-excitability-to-the-biceps-brachii-is-not-different-when-arm-cycling-at-a-self-selected-or-fixed-cadence
#2
Evan J Lockyer, Anna P Nippard, Kaitlyn Kean, Nicole Hollohan, Duane C Button, Kevin E Power
BACKGROUND: The present study compared corticospinal excitability to the biceps brachii muscle during arm cycling at a self-selected and a fixed cadence (SSC and FC, respectively). We hypothesized that corticospinal excitability would not be different between the two conditions. METHODS: The SSC was initially performed and the cycling cadence was recorded every 5 s for one minute. The average cadence of the SSC cycling trial was then used as a target for the FC of cycling that the participants were instructed to maintain...
February 14, 2019: Brain Sciences
https://read.qxmd.com/read/30759804/bilingual-and-monolingual-first-language-acquisition-experience-differentially-shapes-children-s-property-term-learning-evidence-from-behavioral-and-neurophysiological-measures
#3
Agnes Groba, Annick De Houwer, Hellmuth Obrig, Sonja Rossi
Studies of novel noun learning show bilingual children rely less on the Mutual Exclusivity Constraint (MEC) for word learning than monolinguals. Shifting the focus to learning novel property terms (adjectives), the present study compared 3.5- and five-year-old bilingual and monolingual preschoolers' adherence to the MEC. We found no bilingual-monolingual differences on a behavioral forced-choice task for the 3.5-year-olds, but five-year-old monolinguals adhered more to the MEC than bilinguals did. Older bilinguals adhered less to the MEC than younger ones, while there was no difference in MEC adherence between the younger and older monolinguals...
February 12, 2019: Brain Sciences
https://read.qxmd.com/read/30759772/pharmacological-reactivation-of-the-silenced-fmr1-gene-as-a-targeted-therapeutic-approach-for-fragile-x-syndrome
#4
REVIEW
Daman Kumari, Inbal Gazy, Karen Usdin
More than ~200 CGG repeats in the 5' untranslated region of the FMR1 gene results in transcriptional silencing and the absence of the FMR1 encoded protein, FMRP. FMRP is an RNA-binding protein that regulates the transport and translation of a variety of brain mRNAs in an activity-dependent manner. The loss of FMRP causes dysregulation of many neuronal pathways and results in an intellectual disability disorder, fragile X syndrome (FXS). Currently, there is no effective treatment for FXS. In this review, we discuss reactivation of the FMR1 gene as a potential approach for FXS treatment with an emphasis on the use of small molecules to inhibit the pathways important for gene silencing...
February 12, 2019: Brain Sciences
https://read.qxmd.com/read/30744137/working-memory-cognitive-load-andcardiorespiratory-fitness-testing-the-crunchmodel-with-near-infrared-spectroscopy
#5
Nounagnon Frutueux Agbangla, Michel Audiffren, Jean Pylouster, Cédric T Albinet
The present study aimed to examine the effects of chronological age and cardiorespiratory fitness (CRF) on cognitive performance and prefrontal cortex activity, and to test the compensation-related utilization of neural circuits hypothesis (CRUNCH). A total of 19 young adults (18⁻22 years) and 37 older ones (60⁻77 years) with a high or low CRF level were recruited to perform a working memory updating task under three different cognitive load conditions. Prefrontal cortex hemodynamic responses were continuously recorded using functional near-infrared spectroscopy, and behavioral performances and perceived difficulty were measured...
February 9, 2019: Brain Sciences
https://read.qxmd.com/read/30744034/assessment-and-management-of-hiv-associated-cognitive-impairment-experience-from-a-multidisciplinary-memory-service-for-people-living-with-hiv
#6
Kate Alford, Sube Banerjee, Eileen Nixon, Clara O'Brien, Olivia Pounds, Andrew Butler, Claire Elphick, Phillip Henshaw, Stuart Anderson, Jaime H Vera
As the HIV population ages, the prevalence of cognitive impairment (CI) is increasing, yet few services exist for the assessment and management of these individuals. Here we provide an initial description of a memory assessment service for people living with HIV and present data from a service evaluation undertaken in the clinic. We conducted an evaluation of the first 52 patients seen by the clinic. We present patient demographic data, assessment outcomes, diagnoses given and interventions delivered to those seen in the clinic...
February 8, 2019: Brain Sciences
https://read.qxmd.com/read/30744033/shared-neural-correlates-underlying-addictive-disorders-and-negative-urgency
#7
REVIEW
Miji Um, Zachary T Whitt, Rebecca Revilla, Taylor Hunton, Melissa A Cyders
Negative urgency is a personality trait reflecting the tendency to act rashly in response to extreme negative emotions and is considered a transdiagnostic endophenotype for problematic levels of addictive behaviors. Recent research has begun to identify the neural correlates of negative urgency, many of which appear to overlap with neural circuitry underlying addictive disorders associated with negative urgency. The goal of this qualitative review is to summarize the extant literature concerning the neural correlates of negative urgency, to compare these correlates with those implicated with addictive disorders, and to propose new ways to begin to leverage such findings in treatment and intervention approaches...
February 8, 2019: Brain Sciences
https://read.qxmd.com/read/30736461/dunn-s-model-of-sensory-processing-an-investigation-of-the-axes-of-the-four-quadrant-model-in-healthy-adults
#8
Alexia E Metz, Daniella Boling, Ashley DeVore, Holly Holladay, Jo Fu Liao, Karen Vander Vlutch
We examined the behavioral response (BR) and threshold (T) axes of Dunn's four-quadrant model of sensory processing (1997). We assessed whether they are ordinal ranges and if variation is associated with other similarly described characteristics: Introversion/Extraversion (I/E) of Eysenck's personality model (Sato, 2005), and somatosensory event related potentials (SERP) and their gating (Davies & Gavin, 2007). From healthy adults ( n = 139), we obtained: Adult/Adolescent Profile (A/ASP, Brown & Dunn, 2002) and Eysenck's Personality Questionnaire, Brief Version (Sato, 2005) scores and peak amplitude and gating factor of SERP P50...
February 7, 2019: Brain Sciences
https://read.qxmd.com/read/30736374/the-role-of-movement-analysis-in-diagnosing-and-monitoring-neurodegenerative-conditions-insights-from-gait-and-postural-control
#9
REVIEW
Christopher Buckley, Lisa Alcock, Ríona McArdle, Rana Zia Ur Rehman, Silvia Del Din, Claudia Mazzà, Alison J Yarnall, Lynn Rochester
Quantifying gait and postural control adds valuable information that aids in understanding neurological conditions where motor symptoms predominate and cause considerable functional impairment. Disease-specific clinical scales exist; however, they are often susceptible to subjectivity, and can lack sensitivity when identifying subtle gait and postural impairments in prodromal cohorts and longitudinally to document disease progression. Numerous devices are available to objectively quantify a range of measurement outcomes pertaining to gait and postural control; however, efforts are required to standardise and harmonise approaches that are specific to the neurological condition and clinical assessment...
February 6, 2019: Brain Sciences
https://read.qxmd.com/read/30764488/impaired-recognition-of-metrical-and-syntactic-boundaries-in-children-with-developmental-language-disorders
#10
Susan Richards, Usha Goswami
In oral language, syntactic structure is cued in part by phrasal metrical hierarchies of acoustic stress patterns. For example, many children's texts use prosodic phrasing comprising tightly integrated hierarchies of metre and syntax to highlight the phonological and syntactic structure of language. Children with developmental language disorders (DLDs) are relatively insensitive to acoustic stress. Here, we disrupted the coincidence of metrical and syntactic boundaries as cued by stress patterns in children's texts so that metrical and/or syntactic phrasing conflicted...
February 5, 2019: Brain Sciences
https://read.qxmd.com/read/30717399/the-application-of-adeno-associated-viral-vector-gene-therapy-to-the-treatment-of-fragile-x-syndrome
#11
REVIEW
David R Hampson, Alexander W M Hooper, Yosuke Niibori
Viral vector-mediated gene therapy has grown by leaps and bounds over the past several years. Although the reasons for this progress are varied, a deeper understanding of the basic biology of the viruses, the identification of new and improved versions of viral vectors, and simply the vast experience gained by extensive testing in both animal models of disease and in clinical trials, have been key factors. Several studies have investigated the efficacy of adeno-associated viral (AAV) vectors in the mouse model of fragile X syndrome where AAVs have been used to express fragile X mental retardation protein (FMRP), which is missing or highly reduced in the disorder...
February 2, 2019: Brain Sciences
https://read.qxmd.com/read/30717321/missed-diagnosis-of-major-depressive-disorder-with-catatonia-features
#12
Harry Jhawer, Meesha Sidhu, Rikinkumar S Patel
Catatonia is often a presentation of extreme anxiety and depression. Missing the diagnosis of catatonia would lead to improper treatment, which could be life-threatening. A thorough physical and psychiatric assessment is required for detecting the catatonic symptoms, especially, mutism and negativism in patients with depression. We discuss the case of a 58-year-old female that was incorrectly diagnosed and treated for major depressive disorder (MDD). The patient was then correctly diagnosed with MDD with catatonic features and improved once benzodiazepine (BZD) was started...
February 2, 2019: Brain Sciences
https://read.qxmd.com/read/30717266/parkinsonisms-and-glucocerebrosidase-deficiency-a-comprehensive-review-for-molecular-and-cellular-mechanism-of-glucocerebrosidase-deficiency
#13
REVIEW
Emilia M Gatto, Gustavo Da Prat, Jose Luis Etcheverry, Guillermo Drelichman, Martin Cesarini
In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson's disease (PD) or frontotemporal dementia. Epidemiological studies helped promote research in the field that continues to improve our understanding of the link between mutations in the glucocerebrosidase (GBA) gene and PD. We conducted a review of this link, highlighting the association in GBA mutation carriers and in Gaucher disease type 1 patients (GD type 1)...
February 1, 2019: Brain Sciences
https://read.qxmd.com/read/30704114/race-depression-and-financial-distress-in-a-nationally-representative-sample-of-american-adults
#14
Shervin Assari
Background: Although depression and financial distress are correlated, this association may differ for demographic groups, particularly based on race. Aim: Using a national sample of American adults, this study tested whether the association between Major Depressive Episode (MDE) and financial distress differs between African Americans and Whites. Methods: The National Survey of American Life (NSAL), 2003, enrolled 3570 African American and 891 Non-Hispanic White American adults. Demographic data (age and gender), socioeconomic position (SEP; i...
January 30, 2019: Brain Sciences
https://read.qxmd.com/read/30700060/on-the-relationship-between-p3-latency-and-mental-ability-as-a-function-of-increasing-demands-in-a-selective-attention-task
#15
Tugba Kapanci, Sarah Merks, Thomas H Rammsayer, Stefan J Troche
The mental speed approach to individual differences in mental ability (MA) is based on the assumption of higher speed of information processing in individuals with higher than those with lower MA. Empirical support of this assumption has been inconsistent when speed was measured by means of the P3 latency in the event-related potential (ERP). The present study investigated the association between MA and P3 latency as a function of task demands on selective attention. For this purpose, 20 men and 90 women performed on a standard continuous performance test (CPT1 condition) as well as on two further task conditions with lower (CPT0) and higher demands (CPT2) on selective attention...
January 29, 2019: Brain Sciences
https://read.qxmd.com/read/30699903/a-pilot-quantitative-evaluation-of-early-life-language-development-in-fragile-x-syndrome
#16
Debra L Reisinger, Rebecca C Shaffer, Ernest V Pedapati, Kelli C Dominick, Craig A Erickson
Language delay and communication deficits are a core characteristic of the fragile X syndrome (FXS) phenotype. To date, the literature examining early language development in FXS is limited potentially due to barriers in language assessment in very young children. The present study is one of the first to examine early language development through vocal production and the language learning environment in infants and toddlers with FXS utilizing an automated vocal analysis system. Child vocalizations, conversational turns, and adult word counts in the home environment were collected and analyzed in a group of nine infants and toddlers with FXS and compared to a typically developing (TD) normative sample...
January 29, 2019: Brain Sciences
https://read.qxmd.com/read/30699891/potential-application-of-optogenetic-stimulation-in-the-treatment-of-pain-and-migraine-headache-a-perspective-from-animal-studies
#17
REVIEW
Sufang Liu, Yuanyuan Tang, Ying Xing, Phillip Kramer, Larry Bellinger, Feng Tao
Optogenetic manipulation is uniquely useful in unraveling the functional organization of neuronal circuits in the central nervous system by enabling reversible gain- or loss-of-function of discrete populations of neurons within restricted brain regions. This state-of-the-art technology can produce circuit-specific neuromodulation by overexpressing light-sensitive proteins (opsins) in particular cell types of interest. Here, we discuss the principle of optogenetic manipulation and its application in pain research using animal models, and we also discuss how to potentially use optogenetic stimulation in the treatment of migraine headache in the future...
January 29, 2019: Brain Sciences
https://read.qxmd.com/read/30696038/electrical-brain-responses-reveal-sequential-constraints-on-planning-during-music-performance
#18
Brian Mathias, William J Gehring, Caroline Palmer
Elements in speech and music unfold sequentially over time. To produce sentences and melodies quickly and accurately, individuals must plan upcoming sequence events, as well as monitor outcomes via auditory feedback. We investigated the neural correlates of sequential planning and monitoring processes by manipulating auditory feedback during music performance. Pianists performed isochronous melodies from memory at an initially cued rate while their electroencephalogram was recorded. Pitch feedback was occasionally altered to match either an immediately upcoming Near-Future pitch (next sequence event) or a more distant Far-Future pitch (two events ahead of the current event)...
January 28, 2019: Brain Sciences
https://read.qxmd.com/read/30682814/connectivity-analysis-using-functional-brain-networks-to-evaluate-cognitive-activity-during-3d-modelling
#19
Muhammad Zeeshan Baig, Manolya Kavakli
Modelling 3D objects in CAD software requires special skills which require a novice user to undergo a series of training exercises to obtain. To minimize the training time for a novice user, the user-dependent factors must be studied. we have presented a comparative analysis of novice/expert information flow patterns. We have used Normalized Transfer Entropy (NTE) and Electroencephalogram (EEG) to investigate the differences. The experiment was divided into three cognitive states i.e., rest, drawing, and manipulation...
January 24, 2019: Brain Sciences
https://read.qxmd.com/read/30682776/neurostimulation-for-intractable-chronic-pain
#20
Timothy R Deer, Sameer Jain, Corey Hunter, Krishnan Chakravarthy
The field of neuromodulation has seen unprecedented growth over the course of the last decade with novel waveforms, hardware advancements, and novel chronic pain indications. We present here an updated review on spinal cord stimulation, dorsal root ganglion stimulation, and peripheral nerve stimulation. We focus on mechanisms of action, clinical indications, and future areas of research. We also present current drawbacks with current stimulation technology and suggest areas of future advancements. Given the current shortage of viable treatment options using a pharmacological based approach and conservative interventional therapies, neuromodulation presents an interesting area of growth and development for the interventional pain field and provides current and future practitioners a fresh outlook with regards to its place in the chronic pain treatment paradigm...
January 24, 2019: Brain Sciences
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