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https://www.readbyqxmd.com/read/29153844/treatment-of-brain-disease-in-the-mucopolysaccharidoses
#1
REVIEW
Maurizio Scarpa, Paul J Orchard, Angela Schulz, Patricia I Dickson, Mark E Haskins, Maria L Escolar, Roberto Giugliani
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations and neurological symptoms. There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease...
October 16, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29152901/broad-spectrum-of-neuropsychiatric-phenotypes-associated-with-white-matter-disease-in-pten-hamartoma-tumor-syndrome
#2
Tugce B Balci, Jorge Davila, Denice Lewis, Addo Boafo, Erick Sell, Julie Richer, Sarah M Nikkel, Christine M Armour, Eva Tomiak, Matthew A Lines, Sarah L Sawyer
White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were referred for reasons other than developmental delay or ASD. Their clinical presentations ranged from asymptomatic macrocephaly with normal development/intellect, to obsessive compulsive disorder, and debilitating neurological disease...
November 20, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29152164/mutations-in-rab39b-in-individuals-with-intellectual-disability-autism-spectrum-disorder-and-macrocephaly
#3
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L Howe, Ny Hoang, Mohammed Uddin, Christian R Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29150292/neonatal-and-regressive-forms-of-autism-diseases-with-similar-symptoms-but-a-different-etiology
#4
William E Barbeau
Autistic Spectrum Disorder (ASD) can be a debilitating, life-long neurocognitive disease. ASD is caused by genetic and epigenetic factors and largely unknown and poorly understood environmental triggers. Signs and symptoms of ASD often appear in the first year of life while the disease strikes other infants who had previously been developing normally at around 2years of age. Ozonoff and her colleagues recently suggested that there are three different pathways or trajectories for the development of ASD in infants 6-24months of age...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29149154/philosophical-issues-and-psychological-variables-that-influence-the-determination-of-opioid-effectiveness-a-narrative-review
#5
Daniel Michael Doleys
BACKGROUND: The prescribing of opioids in the chronic pain setting is often based on the pharmacodynamics, pharmacokinetics, and pharmacogenetics of the drug obtained during development and clinical trials. However, the effectiveness of opioids varies widely and often appears to bear no relationship to the aforementioned variables. The impact of philosophical issues and psychological factors on determining how clinically effective opioid therapy is has often been over looked. OBJECTIVES: This manuscript provides a selective review and narrative summary of the philosophical issues and psychological factors which can influence opioid effectiveness...
November 2017: Pain Physician
https://www.readbyqxmd.com/read/29148845/speech-recovery-and-language-plasticity-can-be-facilitated-by-sensori-motor-fusion-training-in-chronic-non-fluent-aphasia-a-case-report-study
#6
Célise Haldin, Audrey Acher, Louise Kauffmann, Thomas Hueber, Emilie Cousin, Pierre Badin, Pascal Perrier, Diandra Fabre, Dominic Perennou, Olivier Detante, Assia Jaillard, Hélène Lœvenbruck, Monica Baciu
The rehabilitation of speech disorders benefits from providing visual information which may improve speech motor plans in patients. We tested the proof of concept of a rehabilitation method (Sensori-Motor Fusion, SMF; Ultraspeech player) in one post-stroke patient presenting chronic non-fluent aphasia. SMF allows visualisation by the patient of target tongue and lips movements using high-speed ultrasound and video imaging. This can improve the patient's awareness of his/her own lingual and labial movements, which can, in turn, improve the representation of articulatory movements and increase the ability to coordinate and combine articulatory gestures...
November 17, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/29147885/proceedings-of-the-2017-isev-symposium-on-hiv-neurohiv-drug-abuse-evs
#7
Guoku Hu, Sowmya Yelamanchili, Fatah Kashanchi, Norman Haughey, Vincent C Bond, Kenneth W Witwer, Lynn Pulliam, Shilpa Buch
Despite the success of combination antiretroviral therapy (cART), there is increased prevalence of HIV-associated neurocognitive disorders (HAND) in HIV-1-infected individuals on cART, which poses a major health care challenge. Adding further complexity to this long-term antiretroviral use is the comorbidity with drugs of abuse such as morphine, cocaine, and methamphetamine, which can in turn, exacerbate neurologic and cognitive deficits associated with HAND. Furthermore, HIV proteins, such as the transactivator of transcription (Tat) and the envelope protein (gp120), as well as antiretrovirals themselves can also contribute to the progression of neurodegeneration underlying HAND...
November 16, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/29145187/diogenes-syndrome
#8
Frédéric Assal
Diogenes syndrome (DS) is not a specific disease but a real neurobehavioral syndrome, characterized by severe domestic squalor, pathological hoarding, lack of insight into the condition, and no need for help. DS can be secondary when associated to psychosis or bipolar disorder, or primary when it occurs as a single entity, usually in the elderly. DS is a clinically complex transnosographic syndrome for which multidimensional approaches need to be considered: medical, psychiatric, neurological, social, scientific, and ethical...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29144831/attention-deficit-hyperactivity-disorder-unique-considerations-in-athletes
#9
Chaney G Stewman, Catherine Liebman, Laura Fink, Brad Sandella
CONTEXT: Attention deficit hyperactivity disorder (ADHD) is a common psychiatric condition in the general population, with evidence suggesting that it may be more common among athletes. EVIDENCE ACQUISITION: Literature searches were performed on PubMed, MEDLINE, and Cochrane databases for the years 2000 to 2016 utilizing the following key search terms: ADHD, ADD, guidelines, diagnosis, athlete, sports, treatment, pharmacotherapy, stimulants, risk, cardiovascular effects, concussion, and traumatic brain injury (TBI)...
November 1, 2017: Sports Health
https://www.readbyqxmd.com/read/29143197/three-cases-of-hereditary-tyrosinaemia-type-1-neuropsychiatric-outcomes-and-brain-imaging-following-treatment-with-ntbc
#10
Helen Walker, Mervi Pitkanen, Yusof Rahman, Sally F Barrington
AIM: To examine neuropsychiatric outcomes in adults with hereditary tyrosinaemia type I (HT-1), treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and correlate these with functional imaging as well as with tyrosine and phenylalanine-tyrosine (Phe:Tyr) ratios. DESIGN: We retrospectively reviewed the medical records of three adult HT-1 patients with a particular focus on their FDG PET/CT brain scans, neuropsychiatric assessment (including neurocognitive assessment and mood and anxiety ratings) as well as mean tyrosine and phenylalanine levels and Phe:Tyr ratios for 3-month period...
November 16, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29142315/hiv-1-counteracts-an-innate-restriction-by-amyloid-precursor-protein-resulting-in-neurodegeneration
#11
Qingqing Chai, Vladimir Jovasevic, Viacheslav Malikov, Yosef Sabo, Scott Morham, Derek Walsh, Mojgan H Naghavi
While beta-amyloid (Aβ), a classic hallmark of Alzheimer's disease (AD) and dementia, has long been known to be elevated in the human immunodeficiency virus type 1 (HIV-1)-infected brain, why and how Aβ is produced, along with its contribution to HIV-associated neurocognitive disorder (HAND) remains ill-defined. Here, we reveal that the membrane-associated amyloid precursor protein (APP) is highly expressed in macrophages and microglia, and acts as an innate restriction against HIV-1. APP binds the HIV-1 Gag polyprotein, retains it in lipid rafts and blocks HIV-1 virion production and spread...
November 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/29135068/contribution-of-genes-in-the-gabaergic-pathway-to-bipolar-disorder-and-its-executive-function-deficit-in-the-chinese-han-population
#12
Hongyan Ren, Lijie Guan, Liansheng Zhao, Yin Lin, Yincheng Wang, Zhenxing Yang, Xuan Li, Xiaohong Ma, Xiongchao Cheng, Wenhao Deng, Katherine J Aitchison, Liping Cao, Tao Li
In this study, we investigated the association between bipolar I disorder (BDI) and between cognitive deficits therein and SNPs in GABAergic receptor genes. The sample comprised 477 patients with BDI and 438 healthy controls, with three neurocognitive tests being administered in 123 patients and 164 controls. For three SNPs, rs505474, rs1398175, and rs4868029 in the GABRA2, GABRA4, and GABRP genes, respectively, their allele frequencies were significantly different between patients and controls (Bonferroni-adjusted p = values 3...
November 14, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29131878/association-of-brain-structure-changes-and-cognitive-function-with-combination-antiretroviral-therapy-in-hiv-positive-individuals
#13
Ryan Sanford, Lesley K Fellows, Beau M Ances, D Louis Collins
Importance: Despite the introduction of combination antiretroviral therapy (cART), HIV-associated neurocognitive disorders continue to be a problem for treated HIV-positive individuals. The cause of this impairment remains unclear. Objective: To determine if detectable brain changes occur during a 2-year period in HIV-positive individuals who were aviremic and treated with cART. Design, Setting, and Participants: In this longitudinal case-control study, participants underwent neuroimaging and neuropsychological assessment approximately 2 years apart...
November 13, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29128906/toll-like-receptor-3-mediates-hiv-1-induced-interleukin-6-expression-in-the-human-brain-endothelium-via-tak1-and-jnk-pathways-implications-for-viral-neuropathogenesis
#14
Biju Bhargavan, Georgette D Kanmogne
HIV-1-associated neurocognitive disorders (HAND) is associated with blood-brain-barrier (BBB) inflammation, and inflammation involves toll-like receptors (TLRs) signaling. It is not known whether primary human brain microvascular endothelial cells (HBMEC), the major BBB component, express TLRs or whether TLRs are involved in BBB dysfunction and HAND. We demonstrate that HBMEC express TLR3, 4, 5, 7, 9, and 10, and TLR3 was the most abundant. HIV-1 and TLR3 activation increased endothelial TLR3 transcription and expression...
November 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#15
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29125540/is-high-folic-acid-intake-a-risk-factor-for-autism-a-review
#16
REVIEW
Darrell Wiens, M Catherine DeSoto
Folate is required for metabolic processes and neural development. Insuring its adequate levels for pregnant women through supplementation of grain-based foods with synthetic folic acid (FA) in order to prevent neural tube defects has been an ongoing public health initiative. However, because women are advised to take multivitamins containing FA before and throughout pregnancy, the supplementation together with natural dietary folates has led to a demographic with high and rising serum levels of unmetabolized FA...
November 10, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29123473/neurobehavioral-abnormalities-associated-with-executive-dysfunction-after-traumatic-brain-injury
#17
REVIEW
Rodger Ll Wood, Andrew Worthington
Objective: This article will address how anomalies of executive function after traumatic brain injury (TBI) can translate into altered social behavior that has an impact on a person's capacity to live safely and independently in the community. Method: Review of literature on executive and neurobehavioral function linked to cognitive ageing in neurologically healthy populations and late neurocognitive effects of serious TBI. Information was collated from internet searches involving MEDLINE, PubMed, PyscINFO and Google Scholar as well as the authors' own catalogs...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29121595/from-the-psychosis-prodrome-to-the-first-episode-of-psychosis-no-evidence-of-a-cognitive-decline
#18
Ricardo E Carrión, Deborah J Walder, Andrea M Auther, Danielle McLaughlin, Heather O Zyla, Steven Adelsheim, Roderick Calkins, Cameron S Carter, Bentson McFarland, Ryan Melton, Tara Niendam, J Daniel Ragland, Tamara G Sale, Stephan F Taylor, William R McFarlane, Barbara A Cornblatt
Cognitive deficits have an important role in the neurodevelopment of schizophrenia and other psychotic disorders. However, there is a continuing debate as to whether cognitive impairments in the psychosis prodrome are stable predictors of eventual psychosis or undergo a decline due to the onset of psychosis. In the present study, to determine how cognition changes as illness emerges, we examined baseline neurocognitive performance in a large sample of helping-seeking youth ranging in clinical state from low-risk for psychosis through individuals at clinical high-risk (CHR) for illness to early first-episode patients (EFEP)...
October 19, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29121444/neurocognitive-functioning-clinical-course-and-functional-outcome-in-first-treatment-bipolar-i-disorder-patients-with-and-without-clinical-relapse-a-1-year-follow-up-study
#19
Christine Demmo, Trine V Lagerberg, Levi R Kvitland, Sofie R Aminoff, Tone Hellvin, Carmen Simonsen, Beathe Haatveit, Ole A Andreassen, Ingrid Melle, Torill Ueland
OBJECTIVES: Due to limited research on the association between recurrence of mood episodes and the longitudinal course of neurocognitive functioning in early phase bipolar I disorder (BD I), the impact of recurrence on neurocognition remains unclear. Further, a strong correlation between neurocognitive impairment and functional impairment has been demonstrated. The longitudinal relationship between neurocognitive impairment and functional outcome in relation to recurrence is, however, not established...
November 9, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/29118375/the-lipid-raft-dwelling-protein-us9-can-be-manipulated-to-target-app-compartmentalization-app-processing-and-neurodegenerative-disease-pathogenesis
#20
Renato Brandimarti, Gordon S Hill, Jonathan D Geiger, Olimpia Meucci
The trafficking behavior of the lipid raft-dwelling US9 protein from Herpes Simplex Virus strikingly overlaps with that of the amyloid precursor protein (APP). Both US9 and APP processing machinery rely on their ability to shuttle between endosomes and plasma membranes, as well as on their lateral accumulation in lipid rafts. Therefore, repurposing US9 to track/modify these molecular events represents a valid approach to investigate pathological states including Alzheimer's disease and HIV-associated neurocognitive disorders where APP misprocessing to amyloid beta formation has been observed...
November 8, 2017: Scientific Reports
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