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https://www.readbyqxmd.com/read/27911380/method-for-identifying-small-molecule-inhibitors-of-the-protein-protein-interaction-between-hcn1-and-trip8b
#1
Ye Han, Kyle A Lyman, Matt Clutter, Gary E Schiltz, Quratul-Ain Ismail, Xiangying Cheng, Chi-Hao Luan, Dane M Chetkovich
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels are expressed ubiquitously throughout the brain, where they function to regulate the excitability of neurons. The subcellular distribution of these channels in pyramidal neurons of hippocampal area CA1 is regulated by tetratricopeptide repeat-containing Rab8b interacting protein (TRIP8b), an auxiliary subunit. Genetic knockout of HCN pore forming subunits or TRIP8b, both lead to an increase in antidepressant-like behavior, suggesting that limiting the function of HCN channels may be useful as a treatment for Major Depressive Disorder (MDD)...
November 11, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27910247/auditory-processing-in-noise-is-associated-with-complex-patterns-of-disrupted-functional-connectivity-in-autism-spectrum-disorder
#2
Fahimeh Mamashli, Sheraz Khan, Hari Bharadwaj, Konstantinos Michmizos, Santosh Ganesan, Keri-Lee A Garel, Javeria Ali Hashmi, Martha R Herbert, Matti Hämäläinen, Tal Kenet
Autism spectrum disorder (ASD) is associated with difficulty in processing speech in a noisy background, but the neural mechanisms that underlie this deficit have not been mapped. To address this question, we used magnetoencephalography to compare the cortical responses between ASD and typically developing (TD) individuals to a passive mismatch paradigm. We repeated the paradigm twice, once in a quiet background, and once in the presence of background noise. We focused on both the evoked mismatch field (MMF) response in temporal and frontal cortical locations, and functional connectivity with spectral specificity between those locations...
December 2, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27910108/a-day-in-the-life-of-a-m%C3%A3-ni%C3%A3-re-s-patient-understanding-the-lived-experiences-and-mental-health-impacts-of-m%C3%A3-ni%C3%A3-re-s-disease
#3
Sarah L Bell, Jessica Tyrrell, Cassandra Phoenix
Concepts of social practice are increasingly being used to understand experiences of everyday life, particularly in relation to consumption and healthy lifestyles. This article builds on this in the context of lives disrupted and reshaped by chronic illness. It uses social practice theory to examine the lived experiences of individuals with Ménière's disease; a long-term progressive vestibular disorder, defined by episodes of severe and debilitating vertigo, aural fullness, tinnitus and sensorineural hearing loss...
December 2, 2016: Sociology of Health & Illness
https://www.readbyqxmd.com/read/27910002/the-rice-pentatricopeptide-repeat-gene-tcd10-is-needed-for-chloroplast-development-under-cold-stress
#4
Lanlan Wu, Jun Wu, Yanxia Liu, Xiaodi Gong, Jianlong Xu, Dongzhi Lin, Yanjun Dong
BACKGROUND: Chloroplast plays a vital role in plant development and growth. The pentatricopeptide repeat (PPR) gene family is one of the largest gene families in plants. In addition, cold stress affects a broad spectrum of cellular components, e.g. chloroplast, and metabolism in plants. However, the regulatory mechanism for rice PPR genes on chloroplast development still remains elusive under cold stress. RESULT: In this paper, we characterized a new rice PPR gene mutant tcd10 (thermo-sensitive chlorophyll-deficient mutant 10) that exhibits the albino phenotype, malformed chloroplast and could not survive after the 5-leaf stage when grown at 20 °C, but does the normal phenotype at 32 °C...
December 2016: Rice
https://www.readbyqxmd.com/read/27909390/child-welfare-involved-parents-and-pathways-triple-p-perceptions-of-program-acceptability-and-appropriateness
#5
Ericka M Lewis, Megan Feely, Kristen D Seay, Nicole Fedoravicis, Patricia L Kohl
Nearly half of children in the child welfare system have clinically significant behavior problems and are at risk of developing disruptive behavioral disorders. Yet, behavioral parent training interventions, which are the most effective way to treat these problems, are rarely provided to child welfare involved families. As a result, little is known about the acceptability and appropriateness of these parent training interventions with these families. This qualitative study explored implementation outcomes of an evidenced-based parenting intervention, Pathways Triple P, with families in the child welfare system...
December 2016: Journal of Child and Family Studies
https://www.readbyqxmd.com/read/27909215/cure-for-thalassemia-major-from-allogeneic-hematopoietic-stem-cell-transplantation-to-gene-therapy
#6
Alok Srivastava, Ramachandran V Shaji
Allogeneic hematopoietic stem cell transplantation has been established for several decades as a gene replacement therapy for patients with thalassemia major and now offers very high rates of cure to those who are able to access this therapy. Outcomes have improved tremendously over the last decade even in high-risk patients. The limited data available suggests that the long-term outcome is also excellent with >90% survival but for best results, hematopoietic stem cell transplantation should be offered early before any end organ damage occurs...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27906179/pink1-dependent-phosphorylation-of-pink1-and-parkin-is-essential-for-mitochondrial-quality-control
#7
Na Zhuang, Lin Li, She Chen, Tao Wang
Mitochondrial dysfunction has been linked to the pathogenesis of a large number of inherited diseases in humans, including Parkinson's disease, the second most common neurodegenerative disorder. The Parkinson's disease genes pink1 and parkin, which encode a mitochondrially targeted protein kinase, and an E3 ubiquitin ligase, respectively, participate in a key mitochondrial quality-control pathway that eliminates damaged mitochondria. In the current study, we established an in vivo PINK1/Parkin-induced photoreceptor neuron degeneration model in Drosophila with the aim of dissecting the PINK1/Parkin pathway in detail...
December 1, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#8
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27904835/a-novel-dominant-d109a-cryab-mutation-in-a-family-with-myofibrillar-myopathy-affects-%C3%AE-b-crystallin-structure
#9
Jakub P Fichna, Anna Potulska-Chromik, Przemysław Miszta, Maria Jolanta Redowicz, Anna M Kaminska, Cezary Zekanowski, Sławomir Filipek
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5). Here, we report a case study of a 63-year-old Polish female with a progressive lower limb weakness and muscle biopsy suggesting a myofibrillar myopathy, and extra-muscular multisystemic involvement, including cataract and cardiomiopathy...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/27902832/association-of-irritability-and-anxiety-with-the-neural-mechanisms-of-implicit-face-emotion-processing-in-youths-with-psychopathology
#10
Joel Stoddard, Wan-Ling Tseng, Pilyoung Kim, Gang Chen, Jennifer Yi, Laura Donahue, Melissa A Brotman, Kenneth E Towbin, Daniel S Pine, Ellen Leibenluft
Importance: Psychiatric comorbidity complicates clinical care and confounds efforts to elucidate the pathophysiology of commonly occurring symptoms in youths. To our knowledge, few studies have simultaneously assessed the effect of 2 continuously distributed traits on brain-behavior relationships in children with psychopathology. Objective: To determine shared and unique effects of 2 major dimensions of child psychopathology, irritability and anxiety, on neural responses to facial emotions during functional magnetic resonance imaging...
November 30, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27899419/progressive-cl-channel-defects-reveal-disrupted-skeletal-muscle-maturation-in-r6-2-huntington-s-mice
#11
Daniel R Miranda, Monica Wong, Shannon H Romer, Cynthia McKee, Gabriela Garza-Vasquez, Alyssa C Medina, Volker Bahn, Andrew D Steele, Robert J Talmadge, Andrew A Voss
Huntington's disease (HD) patients suffer from progressive and debilitating motor dysfunction. Previously, we discovered reduced skeletal muscle chloride channel (ClC-1) currents, inwardly rectifying potassium (Kir) channel currents, and membrane capacitance in R6/2 transgenic HD mice. The ClC-1 loss-of-function correlated with increased aberrant mRNA processing and decreased levels of full-length ClC-1 mRNA (Clcn1 gene). Physiologically, the resulting muscle hyperexcitability may help explain involuntary contractions of HD...
November 29, 2016: Journal of General Physiology
https://www.readbyqxmd.com/read/27899296/targeting-the-norepinephrinergic-system-in-parkinson-s-disease-and-related-disorders-the-locus-coeruleus-story
#12
Yannick Vermeiren, Peter P De Deyn
Parkinson's disease (PD), dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD) are related, progressive and debilitating neurodegenerative disorders with hallmark features that include a variety of motor and non-motor symptoms (behavioral, autonomic and cognitive dysfunction). For almost half a century, the motor aspects have been attributed to Lewy pathology (LP) predominantly in the substantia nigra (SN), causing a major loss of dopaminergic neurons. However, the relative success of dopaminergic replacement therapies for alleviation of solely the parkinsonian features has prompted researchers to further explore other monoaminergic strategies which may tackle all PD-related aspects...
November 26, 2016: Neurochemistry International
https://www.readbyqxmd.com/read/27895287/sudden-sensorineural-hearing-loss-is-there-a-connection-with-inner-ear-electrolytic-disorders-a-literature-review
#13
EDITORIAL
Andrea Ciorba, Virginia Corazzi, Chiara Bianchini, Claudia Aimoni, Henryk Skarzynski, Piotr Henryk Skarzynski, Stavros Hatzopoulos
Electrolytic disorders of the inner ear represent a model that could be implicated in partially explaining the pathogenesis of sudden sensorineural hearing loss (SSNHL). Different types of electrolytes and different inner-ear loci are involved in cochlear homeostasis physiologically, to ensure the maintenance of an ion-balanced cochlear environment allowing a normal hair cell function. It has been hypothesized that a sudden loss of endocochlear potential, due to a rapid disruption of the inner ear fluid osmolality, could be responsible for a deterioration of the hearing function caused by damaged hair cells...
December 2016: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/27895088/hormonal-alterations-in-pcos-and-its-influence-on-bone-metabolism
#14
Abhaya Krishnan, Sridhar Muthusami
According to the World Health Organization (WHO) polycystic ovary syndrome (PCOS) occurs in 4-8% of women worldwide. The prevalence of PCOS in Indian adolescents is 12.2% according to ICMR (Indian Council of Medical Research) report. National Institute of Health documented that it affects approximately 5 million women of reproductive age in the United States . Hormonal imbalance is the characteristic of many women with polycystic ovarian syndrome. The impact of various endocrine changes in PCOS women and their relevance to bone remains to be documented...
November 28, 2016: Journal of Endocrinology
https://www.readbyqxmd.com/read/27894940/changes-in-the-mrna-expression-of-structural-proteins-hormone-synthesis-and-secretion-from-bovine-placentome-sections-after-ddt-and-dde-treatment
#15
A Wojciechowska, J Mlynarczuk, J Kotwica
Disorders in the barrier function and secretory activity of the placenta can be caused by xenobiotics (XB) present in the environment and their accumulation in tissues of living organisms. Thus, the aim of this study was to investigate the effect of 1,1,1-trichloro-2,2,-bis-4-chlorophenyl-ethane (DDT) and its metabolite 1,1-dichloro-2,2-bis-4-chlorophenyl-ethene (DDE) (for 24 or 48h) at doses of 1, 10 or 100ng/ml on the function of cow placentome sections in the second trimester of pregnancy. DDT and DDE affected neither (P>0...
November 25, 2016: Toxicology
https://www.readbyqxmd.com/read/27894304/brain-inflammation-is-accompanied-by-peripheral-inflammation-in-cstb-mice-a-model-for-progressive-myoclonus-epilepsy
#16
Olesya Okuneva, Zhilin Li, Inken Körber, Saara Tegelberg, Tarja Joensuu, Li Tian, Anna-Elina Lehesjoki
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessively inherited childhood-onset neurodegenerative disorder, characterized by myoclonus, seizures, and ataxia. Mutations in the cystatin B gene (CSTB) underlie EPM1. The CSTB-deficient (Cstb (-/-) ) mouse model recapitulates key features of EPM1, including myoclonic seizures. The mice show early microglial activation that precedes seizure onset and neuronal loss and leads to neuroinflammation. We here characterized the inflammatory phenotype of Cstb (-/-) mice in more detail...
November 28, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27891556/comparing-self-regulation-associated-event-related-potentials-in-preschool-children-with-and-without-high-levels-of-disruptive-behavior
#17
Adam S Grabell, Sheryl L Olson, Twila Tardif, Meaghan C Thompson, William J Gehring
Deficient self-regulation plays a key role in the etiology of early onset disruptive behavior disorders and signals risk for chronic psychopathology. However, to date, there has been no research comparing preschool children with and without high levels of disruptive behavior using Event Related Potentials (ERPs) associated with specific self-regulation sub-processes. We examined 15 preschool children with high levels of disruptive behavior (35 % female) and 20 peers with low disruptive behavior (50 % female) who completed a Go/No-go task that provided emotionally valenced feedback...
November 28, 2016: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/27890827/adolescent-gbr12909-exposure-induces-oxidative-stress-disrupts-parvalbumin-positive-interneurons-and-leads-to-hyperactivity-and-impulsivity-in-adult-mice
#18
Asma Khan, Loek A W de Jong, Mary E Kamenski, Kerin K Higa, Jacinta D Lucero, Jared W Young, M Margarita Behrens, Susan B Powell
The adolescent period in mammals is a critical period of brain maturation and thus represents a time of susceptibility to environmental insult, e.g. psychosocial stress and/or drugs of abuse, which may cause lasting impairments in brain function and behavior and even precipitate symptoms in at-risk individuals. One likely effect of these environmental insults is to increase oxidative stress in the developing adolescent brain. Indeed, there is increasing evidence that redox dysregulation plays an important role in the development of schizophrenia and other neuropsychiatric disorders and that GABA interneurons are particularly susceptible to alterations in oxidative stress...
November 24, 2016: Neuroscience
https://www.readbyqxmd.com/read/27888270/cerebellar-volume-in-children-with-attention-deficit-hyperactivity-disorder-adhd-replication-study
#19
Aleksandra Wyciszkiewicz, Mikolaj A Pawlak, Krzysztof Krawiec
Attention Deficit Hyperactivity Disorder (ADHD) is associated with altered cerebellar volume and cerebellum is associated with cognitive performance. However there are mixed results regarding the cerebellar volume in young patients with ADHD. To clarify the size and direction of this effect, we conducted the analysis on the large public database of brain images. The aim of this study was to confirm that cerebellar volume in ADHD is smaller than in control subjects in currently the largest publicly available cohort of ADHD subjects...
November 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27887910/assessment-of-serum-level-of-corticotropin-releasing-factor-in-primary-nocturnal-enuresis
#20
Ayat A Motawie, Amany M Abd Al-Aziz, Hanan M Hamed, Amany A A Fatouh, Mona A M Awad, Amany Abd El-Ghany
INTRODUCTION: Primary nocturnal enuresis is one of the sleep related phenomena characterized by disruption in the relationship between arousal and urination. Corticotropin-releasing factor (CRF) is a neurohormone released from the paraventricular nucleus of the hypothalamus into the median eminence to elicit release of adrenocorticotrophin from the anterior pituitary. It may act to modulate autonomic function and behavior in concert with the endocrine effects. Conflicting animal studies about the role of CRF in micturition, either facilitating or inhibiting, have been raised...
October 24, 2016: Journal of Pediatric Urology
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