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https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#1
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
February 22, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#2
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28221369/chemistry-based-molecular-signature-underlying-the-atypia-of-clozapine
#3
T Cardozo, E Shmelkov, K Felsovalyi, J Swetnam, T Butler, D Malaspina, S V Shmelkov
The central nervous system is functionally organized as a dynamic network of interacting neural circuits that underlies observable behaviors. At higher resolution, these behaviors, or phenotypes, are defined by the activity of a specific set of biomolecules within those circuits. Identification of molecules that govern psychiatric phenotypes is a major challenge. The only organic molecular entities objectively associated with psychiatric phenotypes in humans are drugs that induce psychiatric phenotypes and drugs used for treatment of specific psychiatric conditions...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28218824/decreased-home-cage-movement-and-oromotor-impairments-in-adult-fmr1-ko-mice
#4
Stephen J Bonasera, Tammy R Chaudoin, Evan H Goulding, Mateusz Mittek, Anna Dunaevsky
Fragile X syndrome (FXS) is a common inherited disorder that significantly impacts family and patient day-to-day living across the entire lifespan. The childhood and adolescent behavioral consequences of FXS are well-appreciated. However, there are significantly fewer studies (except those examining psychiatric comorbidities) assessing behavioral phenotypes seen in adults with FXS. Mice engineered with a genetic lesion of Fmr1 recapitulate important molecular and neuroanatomical characteristics of FXS, and provide a means to evaluate adult behavioral phenotypes associated with FXS...
February 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28213064/juvenile-treatment-with-a-novel-mglur2-agonist-mglur3-antagonist-compound-ly395756-reverses-learning-deficits-and-cognitive-flexibility-impairments-in-adults-in-a-neurodevelopmental-model-of-schizophrenia
#5
Meng-Lin Li, Yelena Gulchina, Sarah A Monaco, Bo Xing, Brielle R Ferguson, Yan-Chun Li, Feng Li, Xi-Quan Hu, Wen-Jun Gao
Schizophrenia (SCZ) is a neurodevelopmental psychiatric disorder, in which cognitive function becomes disrupted at early stages of the disease. Although the mechanisms underlying cognitive impairments remain unclear, N-methyl-D-aspartate receptors (NMDAR) hypofunctioning in the prefrontal cortex (PFC) has been implicated. Moreover, cognitive symptoms in SCZ are usually unresponsive to treatment with current antipsychotics and by onset, disruption of the dopamine system, not NMDAR hypofunctioning, dominates the symptoms...
February 16, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28212015/discovery-and-preclinical-characterization-of-3-4-4-chlorophenyl-7-fluoroquinoline-3-yl-sulfonyl-benzonitrile-a-novel-non-acetylenic-metabotropic-glutamate-receptor-5-mglur5-negative-allosteric-modulator-for-psychiatric-indications
#6
János Galambos, Attila Bielik, Mikhail Krasavin, Zoltán Orgován, György Domány, Katalin Nógrádi, Gábor Wágner, György T Balogh, Zoltán Béni, János Koti, Zoltán Szakács, Amrita Bobok, Sándor Kolok, Mónika L Miko-Bakk, Mónika Vastag, Katalin Sághy, Judit Laszy, Attila Sándor Halász, Ottilia Balázs, Krisztina Gál, István Greiner, Zsolt Szombathelyi, György M Keserű
Negative allosteric modulators (NAM) of metabotropic glutamate receptor 5 (mGluR5) have been implicated as potential pharmacotherapy for a number of psychiatric diseases including anxiety and depression. Most of the mGluR5 NAM clinical candidates can be characterized by the central acetylenic moiety that connects the terminal pharmacophores. Identification of a sulfoquinoline hit via high throughput screening (HTS) followed by optimization provided a 4-phenyl-3-aryl-sulfoquinoline lead compound with the minimal pharmacophore...
February 17, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28210848/prefrontal-hippocampal-coupling-by-theta-rhythm-and-by-2-5%C3%A2-hz-oscillation-in-the-delta-band-the-role-of-the-nucleus-reuniens-of-the-thalamus
#7
Alexis Roy, Frans Pettersson Svensson, Amna Mazeh, Bernat Kocsis
Rhythmic synchronizations of hippocampus (HC) and prefrontal cortex (PFC) at theta frequencies (4-8 Hz) are thought to mediate key cognitive functions, and disruptions of HC-PFC coupling were implicated in psychiatric diseases. Theta coupling is thought to represent a HC-to-PFC drive transmitted via the well-described unidirectional HC projection to PFC. In comparison, communication in the PFC-to-HC direction is less understood, partly because no known direct anatomical connection exists. Two recent findings, i...
February 16, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28199192/convergence-of-neurotransmissions-at-synapse-on-ieg-regulation-in-nucleus
#8
Mamoru Fukuchi, Masaaki Tsuda
There is no doubt that synaptic activity-regulated expression of immediate early genes (IEGs) contributes to long-lasting changes in neural functions, including learning and memory. Consequently, dysregulation of IEG expression has been involved in the conditions of neural and psychiatric disorders and cognitive dysfunction. This has mainly been demonstrated using genetically modified animal models and neuropharmacological analyses. The regulatory mechanisms of IEG expression have been investigated recently and have re-emphasized the role of IEG expression in plasticity-related processes as well as elucidating molecular mechanisms and drug targets for neurological and psychiatric disorders...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28198416/a-one-week-5-choice-serial-reaction-time-task-to-measure-impulsivity-and-attention-in-adult-and-adolescent-mice
#9
Esther Remmelink, Uyen Chau, August B Smit, Matthijs Verhage, Maarten Loos
Many psychiatric disorders emerge during adolescence. The study of executive functions in animal models of these disorders critically requires short-duration tasks measuring these functions before the animal ages. Here, a novel 5-choice serial reaction time task (5-CSRTT) protocol is presented, to measure attention and impulsivity within one week, without scheduled food deprivation and with little animal handling. Mice were allowed 24-h/day task access from their home-cage, during which they could self-pace task progression and earn unlimited food rewards depending on task performance...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28195241/brain-fingerprints-of-olfaction-a-novel-structural-method-for-assessing-olfactory-cortical-networks-in-health-and-disease
#10
A Fjaeldstad, H M Fernandes, T J Van Hartevelt, C Gleesborg, A Møller, T Ovesen, M L Kringelbach
Olfactory deficits are a common (often prodromal) symptom of neurodegenerative or psychiatric disorders. As such, olfaction could have great potential as an early biomarker of disease, for example using neuroimaging to investigate the breakdown of structural connectivity profile of the primary olfactory networks. We investigated the suitability for this purpose in two existing neuroimaging maps of olfactory networks. We found problems with both existing neuroimaging maps in terms of their structural connectivity to known secondary olfactory networks...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28194598/student-run-clinics-a-novel-approach-to-integrated-care-teaching-and-recruitment
#11
Liza I Mishan, Dianna Dragatsi
The purpose of this study is to assess the educational impact of incorporating a psychiatry consult service into a medical student-run clinic. In November 2014, a psychiatry consult service was introduced at the Columbia-Harlem Homeless Medical Partnership (CHHMP), a student-run clinic located in Harlem, New York. From September 2015 to January 2016, surveys (Qualtrics) were then distributed to student members of the clinic. Surveys assessed how the psychiatric consult service impacted students' knowledge, skills and attitudes about psychiatry...
February 13, 2017: Community Mental Health Journal
https://www.readbyqxmd.com/read/28194132/molecular-imaging-markers-to-track-huntington-s-disease-pathology
#12
REVIEW
Heather Wilson, Rosa De Micco, Flavia Niccolini, Marios Politis
Huntington's disease (HD) is a progressive, monogenic dominant neurodegenerative disorder caused by repeat expansion mutation in the huntingtin gene. The accumulation of mutant huntingtin protein, forming intranuclear inclusions, subsequently leads to degeneration of medium spiny neurons in the striatum and cortical areas. Genetic testing can identify HD gene carriers before individuals develop overt cognitive, psychiatric, and chorea symptoms. Thus, HD gene carriers can be studied in premanifest stages to understand and track the evolution of HD pathology...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28186671/modeling-neurodevelopmental-and-psychiatric-diseases-with-human-ipscs
#13
REVIEW
Zhexing Wen
Neurodevelopmental and psychiatric disorders, including autism spectrum disorder and schizophrenia, are complex and heterogeneous disorders that affect a large portion of the world's population. While the causes are still poorly understood, currently available treatments are limited; the development of rational therapeutics based on an understanding of the etiology and pathogenesis of the disease is imperative. The breakthrough technology of deriving induced pluripotent stem cells (iPSCs), reprogrammed from somatic cells of healthy subjects or patients, offers an unprecedented opportunity to recapitulate both normal and pathological development of human tissue, thereby opening up a new avenue for disease modeling and drug development in a more genetically tractable and disease-relevant system...
February 10, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28182445/state-dependent-alterations-in-inhibitory-control-and-emotional-face-identification-in-seasonal-affective-disorder
#14
Liv V Hjordt, Dea S Stenbæk, Kathrine Skak Madsen, Brenda Mc Mahon, Christian G Jensen, Martin Vestergaard, Ida Hageman, David Meder, Steen G Hasselbalch, Gitte M Knudsen
BACKGROUND: Depressed individuals often exhibit impaired inhibition to negative input and identification of positive stimuli, but it is unclear whether this is a state or trait feature. We here exploited a naturalistic model, namely individuals with seasonal affective disorder (SAD), to study this feature longitudinally. AIM: The goal of this study was to examine seasonal changes in inhibitory control and identification of emotional faces in individuals with SAD...
February 9, 2017: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/28178870/group-treatment-for-adults-with-adhd-based-on-a-novel-combination-of-cognitive-and-dialectical-behavior-interventions
#15
Berkeh Nasri, Malin Castenfors, Peggy Fredlund, Ylva Ginsberg, Nils Lindefors, Viktor Kaldo
OBJECTIVES: To evaluate feasibility and preliminary effects of a new group treatment manual for adults with ADHD and to explore adherence to treatment and its relation to outcome. METHOD: Eighteen adults with ADHD recruited from neuropsychiatric units in Stockholm underwent a 14-week program including combined cognitive and dialectical behavior therapy. Assessments were made at baseline, posttreatment, and follow-up, at one and six months after treatment end. Primary outcome measure was the Adult ADHD Self Report Scale version 1...
January 1, 2017: Journal of Attention Disorders
https://www.readbyqxmd.com/read/28176297/ptsd-psychotropic-medication-use-and-the-risk-of-dementia-among-us-veterans-a-retrospective-cohort-study
#16
Francis Mawanda, Robert B Wallace, Kimberly McCoy, Thad E Abrams
OBJECTIVE: To determine the associations between PTSD, psychotropic medication use, and the risk for dementia. DESIGN: Retrospective cohort. PARTICIPANTS: Nationwide sample of US veterans (N = 417,172) aged ≥56 years during fiscal year (FY) 2003 without a diagnosis of dementia or mild cognitive impairment at baseline (FY02-03) and ≥1 clinical encounter every 2 years during follow-up (FY04-12). MEASURES: Demographic characteristics; diagnosis of PTSD, dementia, and medical and psychiatric comorbidity (defined by ICD-9 codes); and psychotropic medication use including selective serotonin reuptake inhibitors (SSRI), serotonin-norepinephrine reuptake inhibitors (SNRI), novel antidepressants (NA), benzodiazepines (BZA), and atypical antipsychotics (AA)...
February 8, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28176274/microglial-function-during-glucose-deprivation-inflammatory-and-neuropsychiatric-implications
#17
Matthew A Churchward, Devan R Tchir, Kathryn G Todd
Inflammation is increasingly recognized as a contributor to the pathophysiology of neuropsychiatric disorders, including depression, anxiety disorders and autism, though the factors leading to contextually inappropriate or sustained inflammation in pathological conditions are yet to be elucidated. Microglia, as the key mediators of inflammation in the CNS, serve as likely candidates in initiating pathological inflammation and as an ideal point of therapeutic intervention. Glucose deprivation, as a component of the pathophysiology of ischemia or occurring transiently in diabetes, may serve to modify microglial function contributing to inflammatory injury...
February 7, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28173780/protocol-for-the-encode-trial-evaluating-a-novel-online-depression-intervention-for-persons-with-epilepsy
#18
Björn Meyer, Mario Weiss, Martin Holtkamp, Stephan Arnold, Katja Brückner, Johanna Schröder, Franziska Scheibe, Yvonne Nestoriuc
BACKGROUND: Depression is common among persons with epilepsy (PwE), affecting roughly one in three individuals, and its presence is associated with personal suffering, impaired quality of life, and worse prognosis. Despite the availability of effective treatments, depression is often overlooked and treated inadequately in PwE, in part because of assumed concerns over drug interactions or proconvulsant effects of antidepressants. Internet-administered psychological interventions might complement antidepressant medication or psychotherapy, and preliminary evidence suggests that they can be effective...
February 7, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28169463/relationship-between-epigenetic-regulation-dietary-habits-and-the-developmental-origins-of-health-and-disease-theory
#19
REVIEW
Kazuki Mochizuki, Natsuyo Hariya, Kazue Honma, Toshinao Goda
Environmental stressors during developmental stages are hypothesized to increase the risk of developing metabolic diseases such as obesity, type 2 diabetes, hypertension, and psychiatric diseases during later life. This theory is known as the Developmental Origins of Health and Disease (DOHaD). Recent studies suggest that accumulation of environmental stress, including during developmental stages, is internalized as acquired information designated as "epigenetic memory." This epigenetic memory is generally indicated as DNA methylation and histone modifications in the chromatin...
February 7, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28168595/juvenile-huntington-s-disease-diagnostic-and-treatment-considerations-for-the-psychiatrist
#20
REVIEW
Joanna Quigley
Juvenile Huntington's disease (JHD) is a neurodegenerative disease with onset prior to the age of 21. While it accounts for a relatively small proportion of Huntington's disease (HD) diagnoses, its impact is significant on the quality of life for those affected. Clinicians may be unaware that HD can present in childhood and adolescence, delaying diagnosis. HD develops due to an expanded CAG repeat in the huntington gene. Rigidity, dystonia, and seizures are more common in JHD. Cognitive changes such as executive function impairments and decline in school performance are common...
February 2017: Current Psychiatry Reports
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