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https://www.readbyqxmd.com/read/29896732/-clinical-phenotypes-and-genetic-study-of-2-cases-with-22q13-deletion-syndrome
#1
Jihang Luo, Di Fang, Wenjuan Qiu, Bing Xiao, Yanjie Fan, Jun Ye, Lianshu Han, Huiwen Zhang, Yongguo Yu, Lili Liang, Xuefan Gu
OBJECTIVE: To determine the genetic etiology and clinical characteristics of 2 boys featuring development delay (DD). METHODS: Routine chromosomal banding was performed to analyze the karyotypes of the patients and their parents. Single nucleotide polymorphism array (SNP array) analysis was employed to identify pathogenic deletion/duplication of chromosomes, and quantitative real-time PCR (qPCR) was performed to confirm the results. RESULTS: Patient 1 showed a global developmental delay, especially impaired language development, seizures, behavioral problems belonging to the autism spectrum and mild facial dysmorphism...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29892213/neuronal-dysfunction-and-behavioral-abnormalities-are-evoked-by-neural-cells-and-aggravated-by-inflammatory-microglia-in-peroxisomal-%C3%AE-oxidation-deficiency
#2
Lien Beckers, Stijn Stroobants, Rudi D'Hooge, Myriam Baes
It is becoming evident that microglia, the resident immune cells of the central nervous system (CNS), are active contributors in neurological disorders. Nevertheless, the impact of microgliosis on neuropathology, behavior and clinical decline in neuropathological conditions remains elusive. A mouse model lacking multifunctional protein-2 (MFP2), a pivotal enzyme in peroxisomal β-oxidation, develops a fatal disorder characterized by motor problems similar to the milder form of human disease. The molecular mechanisms underlying neurological decline in men and mice remain unknown...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29889069/minor-hallucinations-in-alzheimer-s-disease
#3
Maria Ruiz, Alfonso Arias, Ernesto Sánchez-Llanos, Maria Pilar Gil, Ricard López-Ortega, Faridé Dakterzada, Francisco Purroy, Gerard Piñol-Ripoll
BACKGROUND: Hallucinations may have a broad spectrum and include so-called minor hallucinations (MHs). MH includes passage hallucinations (PHs), visual illusions, and presence hallucinations (PrHs). OBJECTIVE: To determine the prevalence and characteristics of MH in Alzheimer's disease (AD) and amnestic mild cognitive impairment (aMCI) patients, and to describe their potential relationship with cognition, behavioral symptoms, and use of psychoactive drugs. METHODS: We have recruited prospectively and consecutively 268 subjects (90 AD mild-moderate drug-naïve patients, 78 aMCI, and 100 controls)...
June 4, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29886192/maternal-iodine-supplementation-improves-motor-coordination-in-offspring-by-modulating-the-mglur1-signaling-pathway-in-mild-iodine-deficiency-induced-hypothyroxinemia-rats
#4
Yuan Wang, Jun Han, Xi Chen, Xinning Zeng, Yi Wang, Jing Dong, Jie Chen
Iodine is an essential component for thyroid hormone synthesis. Epidemiological investigations have demonstrated that maternal mild iodine deficiency (ID)-induced hypothyroxinemia can affect intellectual and behavioral function in offspring. There is no definitive evidence demonstrating the effects of maternal iodine supplementation on neurobehavioral function in regional areas with mild ID. Thus, we aimed to clarify the effects of maternal mild ID and iodine supplementation on motor coordination in offspring and illuminate the underlying molecular mechanisms...
May 1, 2018: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29884735/neurologic-outcomes-in-pediatric-cardiac-arrest-survivors-enrolled-in-the-thapca-trials
#5
Rebecca Ichord, Faye S Silverstein, Beth S Slomine, Russell Telford, James Christensen, Richard Holubkov, J Michael Dean, Frank W Moler
OBJECTIVE: To implement a standardized approach to characterize neurologic outcomes among 12-month survivors in the Therapeutic Hypothermia after Pediatric Cardiac Arrest (THAPCA) trials. METHODS: Two multicenter trials enrolled children age 48 hours to 18 years who remained comatose after cardiac arrest (CA) occurring out-of-hospital (THAPCA-OH, NCT00878644) or in-hospital (THAPCA-IH, NCT00880087); patients were randomized to therapeutic hypothermia or therapeutic normothermia...
June 8, 2018: Neurology
https://www.readbyqxmd.com/read/29876247/neuroplasticity-of-cognitive-control-networks-following-cognitive-training-for-chronic-traumatic-brain-injury
#6
Kihwan Han, Sandra B Chapman, Daniel C Krawczyk
Cognitive control is the ability to coordinate thoughts and actions to achieve goals. Cognitive control impairments are one of the most persistent and devastating sequalae of traumatic brain injuries (TBI). There have been efforts to improve cognitive control in individuals with post-acute TBI. Several studies have reported changes in neuropsychological measures suggesting the efficacy of cognitive training in improving cognitive control. Yet, the neural substrates of improved cognitive control after training remains poorly understood...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29870545/the-pkc-%C3%AE-selective-inhibitor-enzastaurin-impairs-memory-in-middle-aged-rats
#7
Mari N Willeman, Sarah E Mennenga, Ashley L Siniard, Jason J Corneveaux, Matt De Both, Lauren T Hewitt, Candy W S Tsang, Jason Caselli, B Blair Braden, Heather A Bimonte-Nelson, Matthew J Huentelman
Enzastaurin is a Protein Kinase C-β selective inhibitor that was developed to treat cancers. Protein Kinase C-β is an important enzyme for a variety of neuronal functions; in particular, previous rodent studies have reported deficits in spatial and fear-conditioned learning and memory with lower levels of Protein Kinase C-β. Due to Enzastaurin's mechanism of action, the present study investigated the consequences of Enzastaurin exposure on learning and memory in 12-month-old Fischer-344 male rats. Rats were treated daily with subcutaneous injections of either vehicle or Enzastaurin, and behaviorally tested using the spatial reference memory Morris Water Maze...
2018: PloS One
https://www.readbyqxmd.com/read/29867761/-in-utero-and-postnatal-propylthiouracil-induced-mild-hypothyroidism-impairs-maternal-behavior-in-mice
#8
Miski Aghnia Khairinisa, Yusuke Takatsuru, Izuki Amano, Michifumi Kokubo, Asahi Haijima, Wataru Miyazaki, Noriyuki Koibuchi
Thyroid hormones (THs) play crucial roles in general and brain development. Even if the hypothyroidism is mild, it may alter brain function, resulting in irreversible behavioral alterations. Although various behavioral analyses have been conducted, the effects of propylthiouracil (PTU) treatment during in utero and postnatal periods on maternal behavior have not yet been studied. The present study examined in mice whether THs insufficiency during development induce behavioral changes. Pregnant C57BL/6j mice were divided into three groups, and each group was administered different dosages of PTU (0, 5, or 50 ppm) in drinking water during in utero and postnatal periods (from gestational day 14 to postnatal day 21)...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29867442/the-dose-dependent-effects-of-vascular-risk-factors-on-dynamic-compensatory-neural-processes-in-mild-cognitive-impairment
#9
Haifeng Chen, Fan Su, Qing Ye, Zan Wang, Hao Shu, Feng Bai
Background/Objectives: Mild cognitive impairment (MCI) has been associated with risk for Alzheimer's Disease (AD). Previous investigations have suggested that vascular risk factors (VRFs) were associated with cognitive decline and AD pathogenesis, and the intervention of VRFs may be a possible way to prevent dementia. However, in MCI, little is known about the potential impacts of VRFs on neural networks and their neural substrates, which may be a neuroimaging biomarker of the disease progression. Methods: 128 elderly Han Chinese participants (67 MCI subjects and 61 matched normal elderly) with or without VRFs (hypertension, diabetes mellitus, hypercholesterolemia, smoking and alcohol drinking) underwent the resting-state functional magnetic resonance imaging (fMRI) and neuropsychological tests...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29867384/the-alteration-of-emotion-regulation-precedes-the-deficits-in-interval-timing-in-the-bachd-rat-model-for-huntington-disease
#10
Daniel Garces, Nicole El Massioui, Charlotte Lamirault, Olaf Riess, Huu P Nguyen, Bruce L Brown, Valérie Doyère
Huntington disease (HD) is an autosomal dominantly inherited, progressive neurodegenerative disorder which is accompanied by executive dysfunctions and emotional alteration. The aim of the present study was to assess the impact of emotion/stress on on-going highly demanding cognitive tasks, i.e., temporal processing, as a function of age in BACHD rats (a "full length" model of HD). Middle-aged (4-6 months) and old (10-12 months) rats were first trained on a 2 vs. 8-s temporal discrimination task, and then exposed to a series of bisection tests under normal and stressful (10 mild unpredictable foot-shocks) conditions...
2018: Frontiers in Integrative Neuroscience
https://www.readbyqxmd.com/read/29864451/microrna-and-mrna-profiles-in-ventral-tegmental-area-relevant-to-stress-induced-depression-and-resilience
#11
Xiaoyan Sun, Zhenhua Song, Yawei Si, Jin-Hui Wang
Chronic stress with lack of reward presumably may impair brain reward circuit, leading to major depressive disorder (MDD). Most individuals experiencing chronic stress do not suffer from MDD, i.e., resilience, implying the presence of endogenous anti-depression in the brain. Molecular mechanisms underlying stress-induced depression versus resilience were investigated. Mice were treated by chronic unpredictable mild stress (CUMS) for four weeks. Their mood state was assessed by behavioral tasks, such as sucrose preference, Y-maze and forced swimming testes...
June 1, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29851873/bedside-approach-to-the-mental-status-assessment
#12
David F Tang-Wai, Morris Freedman
PURPOSE OF REVIEW: This article presents a clinically useful approach to obtaining the history and performing the mental status examination of patients with cognitive, language, or behavioral problems. RECENT FINDINGS: Laboratory and imaging biomarkers are being developed for accurate diagnosis of neurobehavioral disorders, yet few are currently available for clinical use. Moreover, not all centers have access to these potential tools. Practicing clinicians are therefore left primarily with their skills of history taking and examination...
June 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29848155/longitudinal-optogenetic-motor-mapping-revealed-structural-and-functional-impairments-and-enhanced-corticorubral-projection-following-contusive-spinal-cord-injury-in-mice
#13
Jun Qian, Wei Wu, Wenhui Xiong, Zhi Chai, Xiao-Ming Xu, Xiaoming Jin
Current evaluation of impairment and repair after spinal cord injury (SCI) is largely dependent on behavioral assessment and histological analysis of injured tissue and pathways. Here we evaluated whether transcranial optogenetic mapping of motor cortex could reflect longitudinal structural and functional damage and recovery after SCI. In Thy1-Channelrhodopsin2 transgenic mice, repeated motor mappings were made by recording optogenetically-evoked electromyograms (EMGs) of a hindlimb at baseline and 1 day, and 2, 4, and 6 weeks after mild, moderate, and severe spinal cord contusion...
May 31, 2018: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29846084/neuro-nutrients-as-anti-alzheimer-s-disease-agents-a-critical-review
#14
Sunil K Ravi, Ramesh B Narasingappa, Bruno Vincent
Alzheimer's disease (AD) is characterized by a massive neuronal death causing memory loss, cognitive impairment and behavioral alteration that ultimately lead to dementia and death. AD is a multi-factorial pathology controlled by molecular events such as oxidative stress, protein aggregation, mitochondrial dysfunction and neuro inflammation. Nowadays, there is no efficient disease-modifying treatment for AD and epidemiological studies have suggested that diet and nutrition have a significant impact on the development of this disorder...
May 30, 2018: Critical Reviews in Food Science and Nutrition
https://www.readbyqxmd.com/read/29843239/a-survey-of-patient-and-partner-outcome-and-treatment-preferences-in-mild-cognitive-impairment
#15
Glenn E Smith, Melanie Chandler, Julie A Fields, Jeremiah Aakre, Dona E C Locke
BACKGROUND: The patient-centered movement in health care is increasing efforts to design studies and interventions that address the outcomes that matter most to patients and their families. Research has not adequately addressed Alzheimer's disease patient and caregiver preferences. OBJECTIVE: To survey the outcome and treatment preferences of patients and caregivers who had completed a multicomponent behavioral intervention for mild cognitive impairment (MCI). METHODS: Extending prior work, we conducted an online survey regarding outcome and intervention preferences...
May 18, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29809032/functional-changes-in-the-cortical-semantic-network-in-amnestic-mild-cognitive-impairment
#16
Jessica Pineault, Pierre Jolicoeur, Stephan Grimault, Patrick Bermudez, Simona Maria Brambati, Jacinthe Lacombe, Juan Manuel Villalpando, Marie-Jeanne Kergoat, Sven Joubert
OBJECTIVE: Semantic memory impairment has been documented in individuals with amnestic Mild cognitive impairment (aMCI), who are at risk of developing Alzheimer's disease (AD), yet little is known about the neural basis of this breakdown. The aim of this study was to investigate the brain mechanisms associated with semantic performance in aMCI patients. METHOD: A group of aMCI patients and a group of healthy controls carried out a semantic categorization task while their brain activity was recorded using magnetoencephalography (MEG)...
May 2018: Neuropsychology
https://www.readbyqxmd.com/read/29805380/frontal-white-matter-hyperintensity-is-associated-with-verbal-aggressiveness-in-elderly-women-with-alzheimer-disease-and-amnestic-mild-cognitive-impairment
#17
Noriko Ogama, Takashi Sakurai, Naoki Saji, Toshiharu Nakai, Shumpei Niida, Kenji Toba, Hiroyuki Umegaki, Masafumi Kuzuya
Background/Aims: Behavioral and psychological symptoms of dementia (BPSD) are exhibited in most patients with Alzheimer disease (AD). Although white matter hyperintensity (WMH) is often observed with AD, the precise role of WMH in BPSD remains unclear. The current study aimed to identify the impact of regional WMH on specific features of BPSD in persons with mild to moderate AD and amnestic mild cognitive impairment (aMCI). Methods: A sample of 256 female outpatients with AD ( n = 217) and aMCI ( n = 39) were recruited...
January 2018: Dementia and Geriatric Cognitive Disorders Extra
https://www.readbyqxmd.com/read/29789032/neuropsychological-correlates-of-instrumental-activities-of-daily-living-in-neurocognitive-disorders-a-possible-role-for-executive-dysfunction-and-mood-changes
#18
Martina Amanzio, Sara Palermo, Milena Zucca, Rosalba Rosato, Elisa Rubino, Daniela Leotta, Massimo Bartoli, Innocenzo Rainero
ABSTRACTSince baseline executive dysfunction predicts worsening Instrumental Activities of Daily Living (i-ADL) over time and progression to Alzheimer's Disease (AD), we aimed to analyze the role of neuropsychological variables to outline which factors can contribute to functional impairment. Specific attention to executive functions (EFs) has been given.A total of 144 subjects complaining of different cognitive deficits - ranging from "MCI likely due to AD" to "mild AD patients" - underwent an overall neuropsychological assessment...
May 23, 2018: International Psychogeriatrics
https://www.readbyqxmd.com/read/29782327/relation-of-white-matter-hyperintensities-and-motor-deficits-in-chronic-stroke
#19
Jarrod M Hicks, Edward Taub, Brent Womble, Ameen Barghi, Tyler Rickards, Victor W Mark, Gitendra Uswatte
BACKGROUND: Infarct size and location account for only a relatively small portion of post-stroke motor impairment, suggesting that other less obvious factors may be involved. OBJECTIVE: Examine the relationship between white matter hyperintensity (WMH) load among other factors and upper extremity motor deficit in patients with mild to moderate chronic stroke. METHODS: The magnetic resonance images of 28 patients were studied. WMH load was assessed as total WMH volume and WMH overlap with the corticospinal tract in the centrum semiovale...
2018: Restorative Neurology and Neuroscience
https://www.readbyqxmd.com/read/29781960/a-peripherally-restricted-cannabinoid-1-receptor-agonist-as-a-novel-analgesic-in-cancer-induced-bone-pain
#20
Hong Zhang, Dominique M Lund, Haley A Ciccone, William D Staatz, Mohab M Ibrahim, Tally M Largent-Milnes, Herbert H Seltzman, Igor Spigelman, Todd W Vanderah
Many malignant cancers, including breast cancer, have a propensity to invade bones, leading to excruciating bone pain. Opioids are the primary analgesics used to alleviate this cancer-induced bone pain (CIBP) but are associated with numerous severe side effects, including enhanced bone degradation, which significantly impairs patients' quality of life. In contrast, agonists activating only peripheral CB1 receptors (CB1Rs) have been shown to effectively alleviate multiple chronic pain conditions with limited side effects, yet no studies have evaluated their role(s) in CIBP...
May 16, 2018: Pain
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