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https://www.readbyqxmd.com/read/29233179/immature-morphological-properties-in-subcellular-scale-structures-in-the-dentate-gyrus-of-schnurri-2-knockout-mice-a-model-for-schizophrenia-and-intellectual-disability
#1
Akito Nakao, Naoyuki Miyazaki, Koji Ohira, Hideo Hagihara, Tsuyoshi Takagi, Nobuteru Usuda, Shunsuke Ishii, Kazuyoshi Murata, Tsuyoshi Miyakawa
Accumulating evidence suggests that subcellular-scale structures such as dendritic spine and mitochondria may be involved in the pathogenesis/pathophysiology of schizophrenia and intellectual disability. Previously, we proposed mice lacking Schnurri-2 (Shn2; also called major histocompatibility complex [MHC]-binding protein 2 [MBP-2], or human immunodeficiency virus type I enhancer binding protein 2 [HIVEP2]) as a schizophrenia and intellectual disability model with mild chronic inflammation. In the mutants' brains, there are increases in C4b and C1q genes, which are considered to mediate synapse elimination during postnatal development...
December 12, 2017: Molecular Brain
https://www.readbyqxmd.com/read/29230938/normal-aptt-in-children-with-mild-factor-xi-deficiency
#2
John Puetz, Christopher Hugge, Karen Moser
It has been suggested that persons with factor XI deficiency can have a normal activated partial thromboplastin time (aPTT). This notion is based on limited data, especially in children. Because of the central role the aPTT plays in diagnostic algorithms for bleeding disorders, it is important to know if a normal aPTT eliminates the need for factor XI activity testing. Our institutional database contains seven children with factor XI deficiency, of whom four have a normal aPTT. This supports the hypothesis that children with factor XI deficiency can have a normal aPTT...
December 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29230092/fetomaternal-and-pediatric-toxoplasmosis
#3
Helieh S Oz
Toxoplasmosis is one of the most important causes of foodborne illnesses and inflammatory complications, as well as congenital disorders. Promiscuous Toxoplasma is transmitted by contaminated food and animal produce, water, vegetations, fruits and sexually through semen. Toxoplasma infects nucleated cells with a unique tropism for muscles and central nervous system and a mind bugging malicious effect. Pregnant women with acute or reactivated toxoplasmosis can transmit Toxoplasma via transplacental to the fetus...
December 2017: Journal of Pediatric Infectious Diseases
https://www.readbyqxmd.com/read/29229776/positive-charge-in-the-n-region-of-the-signal-peptide-contributes-to-efficient-post-translational-translocation-of-small-secretory-preproteins
#4
Huan Guo, Jinhong Sun, Xin Li, Yi Xiong, Heting Wang, Hua Shu, Ruimin Zhu, Qi Liu, Yumeng Huang, Rachel Madley, Yulun Wang, Jingqiu Cui, Peter Arvan, Ming Liu
Increasing evidence indicates that many small secretory preproteins can undergo post-translational translocation across the membrane of the endoplasmic reticulum (ER). Although the cellular machinery involved in post-translational translocation of small secretory preproteins has begun to be elucidated, the intrinsic signals contained within these small secretory preproteins that contribute to their efficient post-translational translocation remain unknown. Here, we analyzed the eukaryotic secretory proteome and discovered that it contains an increased percentage of small secretory preproteins with a positive charge in the n-region of the signal peptide (SP)...
December 11, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29229703/orai1-plays-a-crucial-role-in-central-sensitization-by-modulating-neuronal-excitability
#5
Yannong Dou, Jingsheng Xia, Ruby Gao, Xinghua Gao, Frances M Munoz, Dongyu Wei, Yuzhen Tian, James E Barrett, Seena Ajit, Olimpia Meucci, James W Putney, Yue Dai, Huijuan Hu
Pathological pain is a common and debilitating condition that is often poorly managed. Central sensitization is an important mechanism underlying pathological pain. However, candidate molecules involved in central sensitization remain unclear. Store-operated calcium channels (SOCs) mediate important calcium signals in non-excitable and excitable cells. SOCs have been implicated in a wide variety of human pathophysiological conditions including immunodeficiency, occlusive vascular diseases and cancer. However, the role of SOCs in central nervous system (CNS) disorders has been relatively unexplored...
December 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29228555/circulating-betatrophin-is-associated-with-insulin-resistance-in-humans-cross-sectional-and-interventional-studies-in-vivo-and-in-vitro
#6
Han Wang, Lin Du, Tong Wu, Gangyi Yang, Wenjing Hu, Hansheng Wang, Mengliu Yang, Dongfang Liu, Harvest F Gu, Zhiming Zhu, Hongting Zheng, Ling Li
Betatrophin has a closely relationship with metabolism. However, its effect on metabolism disorder remains unclear. This study was comprised of a series of cross-sectional and interventional studies in vivo and vitro. PCOS women with IR and healthy women were recruited from the general population and outpatients. Plasma betatrophin levels were measured with ELISA. Insulin sensitivity was assessed with EHC. Gene expressions at mRNA and protein levels were determined with RT-PCR and Western blotting. Influences of insulin, metformin, rosiglitazone and over- or knockdown-expression of betatrophin were analyzed ex vivo...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/29227296/lesch-nyhan-syndrome-and-its-variants-examining-the-behavioral-and-neurocognitive-phenotype
#7
James C Harris
PURPOSE OF REVIEW: Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic movement disorder, and compulsive self-injury with self-mutilation. The aim of this review is to summarize recent research that documents the extended behavioral, neurologic, and neurocognitive phenotype in classic LNS, to describe milder variants of HGprt deficiency that do not self-injure and have less severe neurological and cognitive deficits, and to provide an update on treatment for associated psychiatric and behavioral disorders...
December 7, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29225598/innovative-approaches-for-immune-tolerance-to-factor-viii-in-the-treatment-of-hemophilia-a
#8
REVIEW
Alexandra Sherman, Moanaro Biswas, Roland W Herzog
Hemophilia A (coagulation factor VIII deficiency) is a debilitating genetic disorder that is primarily treated with intravenous replacement therapy. Despite a variety of factor VIII protein formulations available, the risk of developing anti-dug antibodies ("inhibitors") remains. Overall, 20-30% of patients with severe disease develop inhibitors. Current clinical immune tolerance induction protocols to eliminate inhibitors are not effective in all patients, and there are no prophylactic protocols to prevent the immune response...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29224722/nrap-1-is-a-presynaptically-released-nmda-receptor-auxiliary-protein-that-modifies-synaptic-strength
#9
Ning Lei, Jerry E Mellem, Penelope J Brockie, David M Madsen, Andres V Maricq
NMDA receptors (NMDARs) are a subtype of postsynaptic ionotropic glutamate receptors that function as molecular coincidence detectors, have critical roles in models of learning, and are associated with a variety of neurological and psychiatric disorders. To date, no auxiliary proteins that modify NMDARs have been identified. Here, we report the identification of NRAP-1, an auxiliary protein in C. elegans that modulates NMDAR function. NMDAR-mediated currents were eliminated in nrap-1 mutants, as was NMDA-dependent behavior...
December 1, 2017: Neuron
https://www.readbyqxmd.com/read/29224415/preclinical-evaluation-of-saroglitazar-magnesium-a-dual-ppar-%C3%AE-%C3%AE-agonist-for-treatment-of-dyslipidemia-and-metabolic-disorders
#10
Harilal Patel, Poonam Giri, Prakash Patel, Sanjay Singh, Laxmikant Gupta, Urvesh Patel, Nirav Modi, Kalpesh Shah, Mukul R Jain, Nuggehally R Srinivas, Pankaj Patel
Saroglitazar, a novel peroxisome proliferator-activated receptor agonist (PPAR), regulates lipid and glucose metabolism. The objective of this report is to provide a preclinical evaluation (in vitro/in vivo) of ADME properties of saroglitazar. In vitro studies included determination of permeability, metabolic stability, plasma protein binding, CYP reaction phenotyping and CYP inhibitory liability. In vivo studies included oral bioavailability and pharmacokinetic assessment in mouse, rat and dog. The excretion of saroglitazar was determined in rats...
December 9, 2017: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/29223763/dyrk1a-haploinsufficiency-in-mice-causes-autistic-like-features-and-febrile-seizures
#11
Matthieu Raveau, Atsushi Shimohata, Kenji Amano, Hiroyuki Miyamoto, Kazuhiro Yamakawa
Mutations and copy number variants affecting DYRK1A gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1A are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (ASD) associated with microcephaly, febrile seizures and severe speech acquisition delay. Here we developed a mouse model harboring a frame-shift mutation in Dyrk1a resulting in a protein truncation and elimination of its kinase activity site. Dyrk1a+/- mice showed significant impairments in cognition and cognitive flexibility, communicative ultrasonic vocalizations, and social contacts...
December 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29221651/-the-myth-of-virgin-cleansing-latest-news-on-an-archaic-magico-religious-practice
#12
P Charlier, F Bou Abdallah, L Brun, V Hoang-Oppermann, S Deo, Y Mostefai-Dulac, M-F Mamzer, C Hervé
BACKGROUND: In the medical anthropology section of the Nanterre Hospital (France) for migrants and refugees, three cases were recorded of "virgin cleansing" in sub-Saharan African countries. PATIENTS AND METHODS: These consisted of sexual assaults (2 instances of rape and 1 of sexual interference) on sexually immature females (young girls) by patients with sexually transmitted infections (mainly HIV, syphilis) hoping they might thereby be cured. DISCUSSION: These particularly atrocious hetero-aggressive sexual practices based on magical arguments are unfortunately universal and are not limited to a specific culture...
December 5, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29217690/re-positioning-of-somatic-golgi-apparatus-is-essential-for-the-dendritic-establishment-of-adult-born-hippocampal-neurons
#13
Sneha Rao, Gregory W Kirschen, Joanna Szczurkowska, Adrian Di Antonio, Jia Wang, Shaoyu Ge, Maya Shelly
New dentate granule cells are continuously generated, and integrate into the pre-existing hippocampal network in the adult brain. How an adult-born neuron with initially simple spindle-like morphology develops into a complex dentate granule cell (DGC), consisting of a single apical dendrite with further branches, remains largely unknown. Here, using retroviruses to birth-date and manipulate newborn neurons, we examined initial dendritic formation, and possible underlying mechanisms. We found that GFP-expressing newborn cells began to establish a DGC-like morphology at around 7 days after birth, with a primary dendrite pointing to the molecular layer, but at this stage, with several neurites in the neurogenic zone...
December 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29217258/predictive-brain-networks-for-major-depression-in-a-semi-multimodal-fusion-hierarchical-feature-reduction-framework
#14
Jie Yang, Yingying Yin, Zuping Zhang, Jun Long, Jian Dong, Yuqun Zhang, Zhi Xu, Lei Li, Jie Liu, Yonggui Yuan
Major depressive disorder (MDD) is characterized by dysregulation of distributed structural and functional networks. It is now recognized that structural and functional networks are related at multiple temporal scales. The recent emergence of multimodal fusion methods has made it possible to comprehensively and systematically investigate brain networks and thereby provide essential information for influencing disease diagnosis and prognosis. However, such investigations are hampered by the inconsistent dimensionality features between structural and functional networks...
December 5, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29216883/transplant-eligibility-for-patients-with-affective-and-psychotic-disorders-a-review-of-practices-and-a-call-for-justice
#15
Katherine L Cahn-Fuller, Brendan Parent
BACKGROUND: The scarcity of human organs requires the transplant community to make difficult allocation decisions. This process begins at individual medical centers, where transplant teams decide which patients to place on the transplant waiting list. Each transplant center utilizes its own listing criteria to determine if a patient is eligible for transplantation. These criteria have historically considered preexisting affective and psychotic disorders to be relative or absolute contraindications to transplantation...
December 8, 2017: BMC Medical Ethics
https://www.readbyqxmd.com/read/29215076/a-novel-electroactive-agarose-aniline-pentamer-platform-as-a-potential-candidate-for-neural-tissue-engineering
#16
Payam Zarrintaj, Behnaz Bakhshandeh, Iraj Rezaeian, Behnam Heshmatian, Mohammad Reza Ganjali
Neuronal disorder is an important health challenge due to inadequate natural regeneration, which has been responded by tissue engineering, particularly with conductive materials. A bifunctional electroactive scaffold having agarose biodegradable and aniline pentamer (AP) conductive parts was designed that exhibits appropriate cell attachment/compatibility, as detected by PC12 cell seeding. The developed carboxyl-capped aniline-pentamer improved agarose cell adhesion potential, also the conductivity of scaffold was in the order 10-5 S/cm reported for cell membrane...
December 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29212553/household-knowledge-and-practices-concerning-malaria-and-indoor-residual-spraying-in-an-endemic-area-earmarked-for-malaria-elimination-in-iran
#17
Abdoulhossain Madani, Moussa Soleimani-Ahmadi, Sayed Hossein Davoodi, Alireza Sanei-Dehkordi, Seyed Aghil Jaberhashemi, Mehdi Zare, Teamur Aghamolaei
BACKGROUND: Indoor residual spraying of insecticide (IRS) is a key intervention for reducing the burden of malaria infection. Effectiveness and success of this strategy are to a considerable extent dependent on knowledge and practice of the target community regarding the IRS. Iran has entered the malaria elimination phase, and IRS has been considered as the main strategy for malaria vector control. Therefore, this study was conducted to determine the household knowledge and practices about malaria and IRS in Bashagard County, one of the malaria-endemic areas in the southeast of Iran...
December 6, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29211470/a-dipolar-cycloaddition-reaction-to-access-6-methyl-4-5-6-7-tetrahydro-1h-1-2-3-triazolo-4-5-c-pyridines-enables-the-discovery-synthesis-and-preclinical-profiling-of-a-p2x7-antagonist-clinical-candidate
#18
Christa C Chrovian, Akinola Soyode-Johnson, Alexander A Peterson, Christine F Gelin, Xiaohu Deng, Curt A Dvorak, Nicholas I Carruthers, Brian Lord, Ian Fraser, Leah Aluisio, Kevin J Coe, Brian Scott, Tatiana Koudriakova, Freddy Schoetens, Kia Sepassi, David J Gallacher, Anindya Bhattacharya, Michael A Letavic
A single pot dipolar cycloaddition reaction / Cope elimination sequence was developed to access novel 1,4,6,7-tetrahydro-5H-[1,2,3]triazolo[4,5-c]pyridine P2X7 antagonists that contain a synthetically challenging chiral center. The structure-activity relationships of the new compounds are described. Two of these compounds, (S)-(2-fluoro-3-(trifluoromethyl)phenyl)(1-(5-fluoropyrimidin-2-yl)-6-methyl-1,4,6,7-tetrahydro-5H-[1,2,3]triazolo[4,5-c]pyridin-5-yl)methanone (compound 14) and (S)-(3-fluoro-2-(trifluoromethyl)pyridin-4-yl)(1-(5-fluoropyrimidin-2-yl)-6-methyl-1,4,6,7-tetrahydro-5H-[1,2,3]triazolo[4,5-c]pyridin-5-yl)methanone (compound 20), were found to have robust P2X7 receptor occupancy at low doses in rat with ED50 values of 0...
December 6, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29202762/myocyte-membrane-and-microdomain-modifications-in-diabetes-determinants-of-ischemic-tolerance-and-cardioprotection
#19
REVIEW
Jake Russell, Eugene F Du Toit, Jason N Peart, Hemal H Patel, John P Headrick
Cardiovascular disease, predominantly ischemic heart disease (IHD), is the leading cause of death in diabetes mellitus (DM). In addition to eliciting cardiomyopathy, DM induces a 'wicked triumvirate': (i) increasing the risk and incidence of IHD and myocardial ischemia; (ii) decreasing myocardial tolerance to ischemia-reperfusion (I-R) injury; and (iii) inhibiting or eliminating responses to cardioprotective stimuli. Changes in ischemic tolerance and cardioprotective signaling may contribute to substantially higher mortality and morbidity following ischemic insult in DM patients...
December 4, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/29201383/an-autosomal-recessive-mutation-in-scl24a4-causing-enamel-hypoplasia-in-samoyed-and-its-relationship-to-breed-wide-genetic-diversity
#20
Niels C Pedersen, Bonnie Shope, Hongwei Liu
Background: Pure breeding of dogs has led to over 700 heritable disorders, of which almost 300 are Mendelian in nature. Seventy percent of the characterized mutations have an autosomal recessive mode of inheritance, indicative of positive selection during bouts of inbreeding primarily for new desired conformational traits. Samoyed suffer from several common complex genetic disorders, but up to this time only two X-linked and one autosomal dominant disorder have been identified. Previous studies based on pedigrees and SNP arrays have concluded that Samoyed breeders have done a good job in maintaining genetic diversity and avoiding excessive inbreeding...
2017: Canine Genetics and Epidemiology
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