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https://www.readbyqxmd.com/read/28551753/cerebellar-and-striatal-pathologies-in-mouse-models-of-autism-spectrum-disorder
#1
Saša Peter, Chris I De Zeeuw, Tobias M Boeckers, Michael J Schmeisser
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component. To date, several hundred different genetic mutations have been identified to play a role in its aetiology. The heterogeneity of genetic abnormalities combined with the different brain regions where aberrations are found makes the search for causative mechanisms a daunting task. Even within a limited number of brain regions, a myriad of different neural circuit dysfunctions may lead to ASD. Here, we review mouse models that incorporate mutations of ASD risk genes causing pathologies in the cerebellum and striatum and highlight the vulnerability of related circuit dysfunctions within these brain regions in ASD pathophysiology...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28551695/down-syndrome-increased-risk-of-dementia-and-lipid-disturbances
#2
Anna Kłosowska, Agnieszka Ćwiklińska, Agnieszka Kuchta, Agata Berlińska, Maciej Jankowski, Jolanta Wierzba
Down syndrome (DS) is the most common chromosomal aberration and genetically determined cause of intellectual disability. DS patients often present with some congenital defects and chronic diseases, including early onset dementia, which affects 70% of DS patients over 55 years of age and has a clinical presentation similar to Alzheimer disease (AD). The symptoms of DS originate from excessive genetic material within the "critical region" of the 21st chromosome. The "critical region" encompasses genes potentially associated with increase risk of dementia, e...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28551555/decreased-medial-prefrontal-cortex-activation-during-self-referential-processing-in-bipolar-mania
#3
Dorrit Herold, Tatiana Usnich, Stephanie Spengler, Bastian Sajonz, Michael Bauer, Felix Bermpohl
BACKGROUND: Patients with bipolar disorder in mania exhibit symptoms pointing towards altered self-referential processing, such as decreased self-focus, flight of ideas and high distractibility. In depression, the opposite pattern of symptoms has been connected to increased activation of medial prefrontal cortex (mPFC) during self-referential processing. In this study, we hypothesized that (1) patients with mania will exhibit decreased activation in the mPFC during self-referential processing and (2) will be more alexithymic and that levels of alexithymia will correlate negatively with mPFC activation...
April 27, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28551550/antidiabetic-properties-of-capparis-spinosa-l-and-its-components
#4
REVIEW
Hamideh Vahid, Hassan Rakhshandeh, Ahmad Ghorbani
An increasing line of evidence confirmed that apart from conventional hypoglycemic drugs, diet and medicinal plants have beneficial effects on diabetes. Capparis spinosa L. (Caper) is a perennial shrub in the Capparidaceae family. It grows in different regions of the world, particularly in Asian and African countries. A wide range of biological activities such as antioxidant, anti-inflammatory, anticancer, antimicrobial, and antidiabetic effects have been reported for this plant. In this review, it is focused on beneficial effects of C...
May 24, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28551012/activation-of-cb2-receptor-system-restores-cognitive-capacity-and-hippocampal-sox2-expression-in-a-transgenic-mouse-model-of-alzheimer-s-disease
#5
Jiang Wu, Mark Hocevar, Joseph F Foss, B Bihua Bie, Mohamed Naguib
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by neuroinflammation, extensive deposits of amyloid-β aggregates, and loss of memory and cognitive abilities. The brains of patients with AD show increased expression of cannabinoid receptor type 2 (CB2) receptors and glial markers. CB2 receptors act as a negative feedback regulator; when activated by a CB2 agonist, they can help limit the extent of the neuroinflammatory response and the subsequent development of neuronal damage in the central nervous system...
May 24, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28550979/status-of-blood-transfusion-in-world-health-organization-eastern-mediterranean-region-who-emr-successes-and-challenges
#6
REVIEW
Arezoo Darbandi, Pargol Mashati, Amir Yami, Arshia Gharehbaghian, Mehdi Tabrizi Namini, Ahmad Gharehbaghian
BACKGROUND: Blood products are used for patient treatment and survival in the cases of major surgery, hematological disorders or cancer therapy. Presently the main blood components are not yet replaceable by artificial products and all activities related to blood transfusion is highly dependent on the healthcare development of each country. The World Health Organization Eastern Mediterranean Region (WHO-EMR) comprises of 21 member states with variable socio-economic status effective on blood transfusion activities...
May 8, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28550509/possible-involvement-of-acss2-gene-in-alcoholism
#7
Andrea Frozino Ribeiro, Roseli Boerngen de Lacerda, Diego Correia, Ana Lúcia Brunialti-Godard, Débora Marques de Miranda, Valdir Ribeiro Campos, Valéria Fernandes de Souza, Angela Maria Ribeiro
Alcoholism is a psychiatric disorder that composes one of the principal causes of health disabilities in the world population. Furthermore, the available pharmacotherapy is limited. Therefore, this research was carried out to better understand the basis of the underlying neurobiological processes of this disorder and to discover potential therapeutic targets. Real-time PCR analysis was performed in the amygdala nuclei region of the brain of mice exposed to a chronic three-bottle free-choice model (water, 5 and 10% v/v ethanol)...
May 26, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28550256/cortical-thickness-and-depressive-symptoms-in-cognitively-normal-individuals-the-mayo-clinic-study-of%C3%A2-aging
#8
Anna Pink, Scott A Przybelski, Janina Krell-Roesch, Gorazd B Stokin, Rosebud O Roberts, Michelle M Mielke, David S Knopman, Clifford R Jack, Ronald C Petersen, Yonas E Geda
Altered cortical thickness has been observed in aging and various neurodegenerative disorders. Furthermore, reduced hippocampal volume has been reported in late-life depression. Even mild depressive symptoms are common in the elderly. However, little is known about the structural MRI measures of depressive symptoms in normal cognitive aging. Thus we sought to examine the association between depressive symptoms with cortical thickness and hippocampal volume as measured by brain MRI among community-dwelling participants...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550069/incidence-and-prevalence-of-nmosd-in-australia-and-new-zealand
#9
Wajih Bukhari, Kerri M Prain, Patrick Waters, Mark Woodhall, Cullen M O'Gorman, Laura Clarke, Roger A Silvestrini, Christine S Bundell, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Matthew Brown, Wallace J Brownlee, Helmut Butzkueven, William M Carroll, Celia Chen, Alan Coulthard, Russell C Dale, Chandi Das, Keith Dear, Marzena J Fabis-Pedrini, David Fulcher, David Gillis, Simon Hawke, Robert Heard, Andrew P D Henderson, Saman Heshmat, Suzanne Hodgkinson, Sofia Jimenez-Sanchez, Trevor Killpatrick, John King, Christopher Kneebone, Andrew J Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christpher Lynch, Richard Macdonell, Deborah F Mason, Pamela A McCombe, Michael P Pender, Jennifer A Pereira, John D Pollard, Stephen W Reddel, Cameron Shaw, Judith Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C Wong, Eppie M Yiu, Michael H Barnett, Allan G Kermode, Mark P Marriott, John D E Parratt, Mark Slee, Bruce V Taylor, Ernest Willoughby, Robert J Wilson, Angela Vincent, Simon A Broadley
OBJECTIVES: We have undertaken a clinic-based survey of neuromyelitis optica spectrum disorders (NMOSDs) in Australia and New Zealand to establish incidence and prevalence across the region and in populations of differing ancestry. BACKGROUND: NMOSD is a recently defined demyelinating disease of the central nervous system (CNS). The incidence and prevalence of NMOSD in Australia and New Zealand has not been established. METHODS: Centres managing patients with demyelinating disease of the CNS across Australia and New Zealand reported patients with clinical and laboratory features that were suspicious for NMOSD...
May 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28550021/effects-of-continuous-positive-airway-pressure-on-neurocognitive-architecture-and-function-in-patients-with-obstructive-sleep-apnoea-study-protocol-for-a-multicentre-randomised-controlled-trial
#10
Huajun Xu, Hui Wang, Jian Guan, Hongliang Yi, Yingjun Qian, Jianyin Zou, Yunyan Xia, Yiqun Fu, Xinyi Li, Xiao Jiao, Hengye Huang, Pin Dong, Ziwei Yu, Jun Yang, Mingliang Xiang, Jiping Li, Yanqing Chen, Peihua Wang, Yizhou Sun, Yuehua Li, Xiaojian Zheng, Wei Jia, Shankai Yin
OBJECTIVES: Many clinical studies have indicated that obstructive sleep apnoea (OSA), the most common chronic sleep disorder, may affect neurocognitive function, and that treatment for continuous positive airway pressure (CPAP) has some neurocognitive protective effects against the adverse effects of OSA. However, the effects of CPAP treatment on neurocognitive architecture and function remain unclear. Therefore, this multicentre trial was designed to investigate whether and when neurocognitive architecture and function in patients with OSA can be improved by CPAP treatment and to explore the role of gut microbiota in improving neurocognitive function during treatment...
May 25, 2017: BMJ Open
https://www.readbyqxmd.com/read/28549772/codon-optimized-rpgr-improves-stability-and-efficacy-of-aav8-gene-therapy-in-two-mouse-models-of-x-linked-retinitis-pigmentosa
#11
M Dominik Fischer, Michelle E McClements, Cristina Martinez-Fernandez de la Camara, Julia-Sophia Bellingrath, Daniyar Dauletbekov, Simon C Ramsden, Doron G Hickey, Alun R Barnard, Robert E MacLaren
X-linked retinitis pigmentosa (XLRP) is generally a severe form of retinitis pigmentosa, a neurodegenerative, blinding disorder of the retina. 70% of XLRP cases are due to mutations in the retina-specific isoform of the gene encoding retinitis pigmentosa GTPase regulator (RPGR(ORF15)). Despite successful RPGR(ORF15) gene replacement with adeno-associated viral (AAV) vectors being established in a number of animal models of XLRP, progression to human trials has not yet been possible. The inherent sequence instability in the purine-rich region of RPGR(ORF15) (which contains highly repetitive nucleotide sequences) leads to unpredictable recombination errors during viral vector cloning...
May 24, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28549475/kimura-s-disease-affecting-the-axillary-lymph-nodes-a-case-report
#12
Kenji Kuroda, Shinichiro Kashiwagi, Hitoshi Teraoka, Haruhito Kinoshita, Mikio Nanbara, Eiji Noda, Takaaki Chikugo, Kosei Hirakawa, Masaichi Ohira
BACKGROUND: Kimura's disease (KD; eosinophilic granuloma of soft tissue) is an inflammatory granulomatous disorder of unknown cause with eosinophilic infiltration that occurs mainly in soft tissue. KD occurs mainly in the head and neck, but development in the axillary region is very rare. CASE PRESENTATION: A 74-year-old Japanese woman was evaluated for a mass that she noted in the left axillary region. On physical examination, there was a palpable, thumb-sized, hard, elastic, freely movable mass in the left axilla...
May 26, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28549317/frontal-and-subcortical-grey-matter-reductions-in-ptsd
#13
Daniel C M O'Doherty, Ashleigh Tickell, Will Ryder, Charles Chan, Daniel F Hermens, Maxwell R Bennett, Jim Lagopoulos
Post-traumatic stress disorder (PTSD) is characterised by a range of debilitating psychological, physical and cognitive symptoms. PTSD has been associated with grey matter atrophy in limbic and frontal cortical brain regions. However, previous studies have reported heterogeneous findings, with grey matter changes observed beyond limbic/frontal areas. Seventy-five adults were recruited from the community, 25 diagnosed with PTSD along with 25 healthy and 25 trauma exposed age and gender matched controls. Participants underwent clinical assessment and magnetic resonance imaging...
May 19, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#14
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28548710/measurement-of-glycine-in-healthy-and-tumorous-brain-by-triple-refocusing-mrs-at-3%C3%A2-t-in-vivo
#15
Vivek Tiwari, Zhongxu An, Sandeep K Ganji, Jeannie Baxter, Toral R Patel, Edward Pan, Bruce E Mickey, Elizabeth A Maher, Marco C Pinho, Changho Choi
Glycine (Gly) has been implicated in several neurological disorders, including malignant brain tumors. The precise measurement of Gly is challenging largely as a result of the spectral overlap with myo-inositol (mI). We report a new triple-refocusing sequence for the reliable co-detection of Gly and mI at 3 T and for the evaluation of Gly in healthy and tumorous brain. The sequence parameters were optimized with density-matrix simulations and phantom validation. With a total TE of 134 ms, the sequence gave complete suppression of the mI signal between 3...
May 26, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28548543/systematic-review-of-clinical-guidance-documents-for-autism-spectrum-disorder-diagnostic-assessment-in-select-regions
#16
Melanie Penner, Evdokia Anagnostou, Lana Y Andoni, Wendy J Ungar
Clinical guidance documents play an important role in ensuring access to high-quality autism spectrum disorder diagnostic assessment practices. The objective was to perform a systematic review of professional association and government clinical guidance documents for autism spectrum disorder diagnostic assessment, analyzing their quality and content. The government search was limited to English-speaking, single-payer, publicly funded health systems. A quality appraisal was conducted by two appraisers using the Appraisal of Guidelines Research and Evaluation, second edition tool...
May 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28548510/density-propagator-for-many-body-localization-finite-size-effects-transient-subdiffusion-and-exponential-decay
#17
Soumya Bera, Giuseppe De Tomasi, Felix Weiner, Ferdinand Evers
We investigate charge relaxation in quantum wires of spinless disordered fermions (t-V model). Our observable is the time-dependent density propagator Π_{ϵ}(x,t), calculated in windows of different energy density ϵ of the many-body Hamiltonian and at different disorder strengths W, not exceeding the critical value W_{c}. The width Δx_{ϵ}(t) of Π_{ϵ}(x,t) exhibits a behavior dlnΔx_{ϵ}(t)/dlnt=β_{ϵ}(t), where the exponent function β_{ϵ}(t)≲1/2 is seen to depend strongly on L at all investigated parameter combinations...
May 12, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28548188/-epidemiology-of-premature-deaths-in-chile-between-2001-and-2010
#18
Roberto Bächler, Gloria Icaza, Alex Soto, Loreto Núñez, Carolina Orellana, Rolando Monsalve, Marcela Riquelme
BACKGROUND: Years of potential life lost (YPLL) is a parameter that allows to analyze premature deaths. AIM: To study the causes, differences by gender, geographic variations and the trend of premature deaths in the last decade in Chile. MATERIAL AND METHODS: Using death databases published by the Ministry of Health, YPLL were calculated for the decade 2001-2010, using the method proposed by the Organization for Economic Cooperation and Development...
March 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28548001/the-psychiatric-morbidity-of-women-who-give-birth-to-children-with-fetal-alcohol-spectrum-disorder-fasd-results-of-the-manitoba-mothers-and-fasd-study
#19
Deepa Singal, Marni Brownell, Dan Chateau, Ana Hanlon-Dearman, Sally Longstaffe, Leslie L Roos
OBJECTIVE: To investigate differences in physician-diagnosed psychiatric disorders between women who gave birth to children with a fetal alcohol spectrum disorder (FASD) diagnosis (study group) compared to women who gave birth to children without FASD (comparison group). METHODS: We linked population-level health and social services data to clinical data on FASD diagnoses to identify study group ( n = 702) and comparison group ( n = 2097) women matched 1:3 on date of birth of index child, region of residence, and socioeconomic status...
January 1, 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/28547871/sequence-based-analysis-of-protein-degradation-rates-a-computational-study-of-protein-degradation
#20
Miguel Correa Marrero, Aalt D J van Dijk, Dick de Ridder
Protein turnover is a key aspect of cellular homeostasis and proteome dynamics. However, there is little consensus on which properties of a protein determine its lifetime in the cell. In this work, we exploit two reliable datasets of experimental protein degradation rates to learn models and uncover determinants of protein degradation, with particular focus on properties that can be derived from the sequence. Our work shows that simple sequence features suffice to obtain predictive models of which the output correlates reasonably well with the experimentally measured values...
May 25, 2017: Proteins
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