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Endophenotype

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https://www.readbyqxmd.com/read/30540774/increased-alzheimer-s-risk-during-the-menopause-transition-a-3-year-longitudinal-brain-imaging-study
#1
Lisa Mosconi, Aneela Rahman, Ivan Diaz, Xian Wu, Olivia Scheyer, Hollie Webb Hristov, Shankar Vallabhajosula, Richard S Isaacson, Mony J de Leon, Roberta Diaz Brinton
Two thirds of all persons with late-onset Alzheimer's disease (AD) are women. Identification of sex-based molecular mechanisms underpinning the female-based prevalence of AD would advance development of therapeutic targets during the prodromal AD phase when prevention or delay in progression is most likely to be effective. This 3-year brain imaging study examines the impact of the menopausal transition on Alzheimer's disease (AD) biomarker changes [brain β-amyloid load via 11C-PiB PET, and neurodegeneration via 18F-FDG PET and structural MRI] and cognitive performance in midlife...
2018: PloS One
https://www.readbyqxmd.com/read/30540621/machine-learning-based-prediction-of-clinical-pain-using-multimodal-neuroimaging-and-autonomic-metrics
#2
Jeungchan Lee, Ishtiaq Mawla, Jieun Kim, Marco L Loggia, Ana Ortiz, Changjin Jung, Suk-Tak Chan, Jessica Gerber, Vincent J Schmithorst, Robert R Edwards, Ajay D Wasan, Chantal Berna, Jian Kong, Ted J Kaptchuk, Randy L Gollub, Bruce R Rosen, Vitaly Napadow
Although self-report pain ratings are the gold standard in clinical pain assessment, they are inherently subjective in nature and significantly influenced by multidimensional contextual variables. Although objective biomarkers for pain could substantially aid pain diagnosis and development of novel therapies, reliable markers for clinical pain have been elusive. In this study, individualized physical maneuvers were used to exacerbate clinical pain in patients with chronic low back pain (N = 53), thereby experimentally producing lower and higher pain states...
October 17, 2018: Pain
https://www.readbyqxmd.com/read/30538772/brain-theranostics-and-radiotheranostics-exosomes-and-graphenes-in-vivo-as-novel-brain-theranostics
#3
REVIEW
Minseok Suh, Dong Soo Lee
Brain disease is one of the greatest threats to public health. Brain theranostics is recently taking shape, indicating the treatments of stroke, inflammatory brain disorders, psychiatric diseases, neurodevelopmental disease, and neurodegenerative disease. However, several factors, such as lack of endophenotype classification, blood-brain barrier (BBB), target determination, ignorance of biodistribution after administration, and complex intercellular communication between brain cells, make brain theranostics application difficult, especially when it comes to clinical application...
December 2018: Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/30533971/erratum-two-year-follow-up-of-isolated-epileptiform-discharges-in-autism-an-endophenotypic-biomarker
#4
(no author information available yet)
[This corrects the article on p. 219 in vol. 40, PMID: 29875528.].
November 2018: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/30528906/neuro-hemodynamic-endophenotypes-of-emotional-interference-in-ocd-fmri-study-using-emotion-counting-stroop-task
#5
Janardhanan C Narayanaswamy, Dania Jose, Sri Mahavir Agarwal, Sunil V Kalmady, Upasana Baruah, Venkataram Shivakumar, Chandrajit Prasad, Biju Viswanath, Naren P Rao, Ganesan Venkatasubramanian, Y C Janardhan Reddy
BACKGROUND: We sought to examine the endophenotype pattern of neuro-hemodynamic substrates of emotion counting Stroop (ecStroop) paradigm in patients with OCD, their unaffected siblings [first degree relatives-FDR] and healthy controls (HC). METHODS: OCD patients (medication naïve)[N = 16], their unaffected siblings(FDR)[N = 16] and HC [N = 24] were compared using an established ecStroop paradigm in a 3-Tesla fMRI. The relative BOLD signals corresponding to the three types of conditions (neural words-N, words with negative emotional salience-E and words with salience for OCD-O) were examined in the apriori hypothesized brain regions...
November 24, 2018: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/30528180/-affective-temperaments-in-drug-addicts-a-case-control-study
#6
N Charfi, N Mseddi, R Sallemi, A Zahaf, M Maâlej-Bouali, S Omri, R Feki, L Zouari, J Ben Thabet, M Maâlej
INTRODUCTION: The study of affective temperaments is a dimensional approach to personality that would provide a better understanding of the emergence of psychopathological disorders including addictive behaviors. However, in the literature, there is a lack of studies focusing on the links between this type of disorder and affective temperaments. Our objectives were to study the distribution of the five known affective temperaments in a group of drug addicts compared to a control group, and to identify sociodemographic and clinical factors associated with emotional traits...
December 5, 2018: L'Encéphale
https://www.readbyqxmd.com/read/30524331/numerical-processing-impairment-in-22q11-2-lcr22-4-to-lcr22-5-microdeletion-a-cognitive-neuropsychological-case-study
#7
Lívia de Fátima Silva Oliveira, Annelise Júlio-Costa, Fernanda Caroline Dos Santos, Maria Raquel Santos Carvalho, Vitor Geraldi Haase
Although progress has been made, the cognitive, biological and, particularly, the genetic underpinnings of math learning difficulties (MD) remain largely unknown. This difficulty stems from the heterogeneity of MD and from the large contribution of environmental factors to its etiology. Understanding endophenotypes, e.g., the role of the Approximate Number System (ANS), may help understanding the nature of MD. MD associated with ANS impairments has been described in some genetic conditions, e.g., 22q11.2 deletion syndrome (22q11...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/30524168/neurocognitive-endophenotypes-of-schizophrenia-and-bipolar-disorder-and-possible-associations-with-fkbp-variant-rs3800373
#8
Amra Memic, Fabian Streit, Lejla Hasandedic, Stephanie H Witt, Jana Strohmaier, Marcella Rietschel, Lilijana Oruc
Introduction: Schizophrenia(SCZ) and Bipolar disorder (BD) are frequently occurring and impairing disorders that affect around 1% of the population. Important endophenotypes in the genetic research of SCZ and BD are cognitive functions. Core symptoms for SCZ and BD are impairments in working memory, declarative memory and attention, all of which fulfill the criteria for an endophenotype. The FK506 Binding Protein 5 (FKBP5) gene codes for a co-chaperone of the glucocorticoid receptor and has been reported to be associated with cognition...
November 2018: Medical Archives
https://www.readbyqxmd.com/read/30499409/a-review-of-neuroimaging-studies-on-working-memory-paradigms-in-patients-with-bipolar-disorder
#9
Asen Beshkov, Mariyan Topolov, Feryhan Ahmed-Popova, Stefan Sivkov
New brain technologies including neuroimaging studies are powerful means for providing new insights into clinical and cognitive neuroscience. Bipolar disorder is a severe chronic phasic mental disease characterized by various cognitive dysfunctions. Working memory is one prominent domain of cognitive impairment in bipolar disorder. Disruptions in working memory are observed even in euthymic bipolar patients which makes it a potential endophenotypic marker for the disorder. Finding such markers may help in providing firm neurobiological basis for psychiatric nosologies and symptomatic presentations...
November 30, 2018: Current Topics in Medicinal Chemistry
https://www.readbyqxmd.com/read/30498565/brain-hyperserotonemia-causes-autism-relevant-social-deficits-in-mice
#10
Miho Tanaka, Atsushi Sato, Shinya Kasai, Yoko Hagino, Hiroko Kotajima-Murakami, Hirofumi Kashii, Yukio Takamatsu, Yasumasa Nishito, Masumi Inagaki, Masashi Mizuguchi, F Scott Hall, George R Uhl, Dennis Murphy, Ichiro Sora, Kazutaka Ikeda
Background: Hyperserotonemia in the brain is suspected to be an endophenotype of autism spectrum disorder (ASD). Reducing serotonin levels in the brain through modulation of serotonin transporter function may improve ASD symptoms. Methods: We analyzed behavior and gene expression to unveil the causal mechanism of ASD-relevant social deficits using serotonin transporter ( Sert ) knockout mice. Results: Social deficits were observed in both heterozygous knockout mice (HZ) and homozygous knockout mice (KO), but increases in general anxiety were only observed in KO mice...
2018: Molecular Autism
https://www.readbyqxmd.com/read/30487540/self-other-recognition-impairments-in-individuals-with-schizophrenia-a-new-experimental-paradigm-using-a-double-mirror
#11
Gaelle Keromnes, Tom Motillon, Nathalie Coulon, Alain Berthoz, Foucaud Du Boisgueheneuc, Moritz Wehrmann, Brice Martin, Bérangère Thirioux, Olivier Bonnot, Romain Ridereau, Eric Bellissant, Dominique Drapier, David Levoyer, Nemat Jaafari, Sylvie Tordjman
Clinical observations suggest early self-consciousness disturbances in schizophrenia. A double mirror combining the images of two individuals sitting on each side of the mirror was used to study self-other differentiation in 12 individuals with early onset schizophrenia (EOS) and 15 individuals with adult onset schizophrenia (AOS) compared to 27 typically developing controls (TDC) matched on age and sex. The effects of intermodal sensory perception (visual-tactile and visual-kinesthetic) on self-other recognition were also studied...
November 28, 2018: NPJ Schizophrenia
https://www.readbyqxmd.com/read/30479469/phenotypic-features-of-central-sensitization
#12
David A Williams
Purpose: The current manuscript reviews approaches for phenotyping central sensitization (CS). Methods: The manuscript covers the concept of diagnostic phenotyping, use of endophenotypes, biomarkers, and symptom clusters. Specifically, the components of CS that include general sensory sensitivity (assessed by quantitative sensory testing) and a symptom cluster denoting sleep difficulties, pain, affect, cognitive difficulties, and low energy (S.P.A.C.E.). Results: Each of the assessment domains are described with reference to CS and their presence in chronic overlapping pain conditions (COPCs) - conditions likely influenced by CS...
June 2018: Journal of Applied Biobehavioral Research
https://www.readbyqxmd.com/read/30478947/22q11-microdeletion-syndrome-and-ultra-high-risk-for-psychosis-the-role-of-neurological-soft-signs-as-an-independent-marker-of-vulnerability-for-psychosis
#13
Mariabernarda Pitzianti, Maria Pontillo, Stefano Vicari, Marco Armando, Augusto Pasini
AIM: 22q11 microdeletion syndrome has an increased risk for psychosis, similar to subjects at ultra-high risk for psychosis. Neurological soft signs are considered an endophenotype of psychotic disorders and a marker of vulnerability to Schizophrenia, consisting of overflow movements, dysrhythmia and speed of timed activities. To date, there are no studies that have evaluated the presence of the neurological soft signs in subjects with 22q11 microdeletion syndrome and there are a few studies that have analysed this issue in subjects at ultra-high risk...
November 26, 2018: Early Intervention in Psychiatry
https://www.readbyqxmd.com/read/30477416/predictors-of-response-and-remission-to-antidepressants-in-geriatric-depression-a-systematic-review
#14
Caroline Masse-Sibille, Bennabi Djamila, Giustiniani Julie, Haffen Emmanuel, Vandel Pierre, Chopard Gilles
BACKGROUND: Geriatric depression is a heterogeneous disorder that increases morbidity and mortality in a population that is already vulnerable. Predicting response and remission to antidepressants could help clinicians to optimize the management of antidepressants and reduce the consequences of depression. METHOD: The aim of this article is to present results of a systematic review of the literature on predictive factors related to antidepressant response and remission in older adults with depression...
November 2018: Journal of Geriatric Psychiatry and Neurology
https://www.readbyqxmd.com/read/30473198/neuroimaging-applications-in-tourette-s-syndrome
#15
Davide Martino, Christos Ganos, Yulia Worbe
Tics are neurodevelopmental hyperkinetic symptoms typically associated with unpleasant sensory experiences called premonitory urges. Tourette syndrome (TS) is the primary chronic tic disorder for which medical surveillance is most frequently required, and is associated with a complex phenotypical spectrum encompassing different types of abnormal behaviors. Animal models of tics support their link to phasic activity changes throughout the sensorimotor loop of the cortico-basal ganglia-thalamo-cortical network...
2018: International Review of Neurobiology
https://www.readbyqxmd.com/read/30472971/reward-systems-and-cognitions-in-major-depressive-disorder
#16
Marie-Laure Cléry-Melin, Fabrice Jollant, Philip Gorwood
A lack of motivation and anhedonia represent frequent and pervasive symptoms in depression, although with poor specificity. Historically described as a response bias, reward-related impairments in depression may account for the important aspects of the cognitive impairments associated with diagnosis of major depressive disorder. Reward processing is a broad psychological construct that can be parsed into 3 distinct components known as "reinforcement learning" (learning), "reward responsiveness" (liking), and "motivation to obtain a reward" (wanting)...
November 26, 2018: CNS Spectrums
https://www.readbyqxmd.com/read/30472272/neuro-metabolite-profiles-of-rodent-models-of-psychiatric-dysfunctions-characterised-by-mr-spectroscopy
#17
Sakthivel Sekar, Joanes Grandjean, Joanne Fv Garnell, Roland Willems, Hilde Duytschaever, Sankar Seramani, Huang Su, Luc Ver Donck, Kishore K Bhakoo
Neuroimaging endophenotypes in animal models provide an objective and translationally-relevant alternative to cognitive/behavioral traits in human psychopathologies. Metabolic alterations, such as those involved in the glutamate-cycle, have been proposed to play a preponderant role in both depression and schizophrenia. Chronic Mild Unpredictable Stress (CMUS) and sub-chronic administration of NMDA receptor antagonist generate animal models of depression and schizophrenia, respectively. The models are based on etiologically-relevant factors related to the induction and support of these psychopathologies...
November 22, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/30469123/electrophysiology-of-obsessive-compulsive-disorder-a-systematic-review-of-the-electroencephalographic-literature
#18
REVIEW
M Prabhavi N Perera, Neil W Bailey, Sally E Herring, Paul B Fitzgerald
Obsessive-compulsive disorder (OCD) is a chronic disease that causes significant decline in the quality of life of those affected. Due to our limited understanding of the underlying pathophysiology of OCD, successful treatment remains elusive. Although many have studied the pathophysiology of OCD through electroencephalography (EEG), limited attempts have been made to synthesize and interpret their findings. To bridge this gap, we conducted a comprehensive literature review using Medline/PubMed and considered the 65 most relevant studies published before June 2018...
November 14, 2018: Journal of Anxiety Disorders
https://www.readbyqxmd.com/read/30466960/ketogenic-diet-prevents-impaired-prepulse-inhibition-of-startle-in-an-acute-nmda-receptor-hypofunction-model-of-schizophrenia
#19
Ann-Katrin Kraeuter, Maarten van den Buuse, Zoltán Sarnyai
Recent transcriptomic, proteomic and metabolomics studies have highlighted an abnormal cerebral glucose and energy metabolism as one of the potential pathophysiological mechanisms of schizophrenia. This raises the possibility that a metabolically-based intervention might have therapeutic value in the management of schizophrenia, a notion supported by our recent results that a low carbohydrate/high-fat therapeutic ketogenic diet (KD) prevented a variety of behavioural abnormalities induced by pharmacological inhibition of NMDA glutamate receptors...
November 19, 2018: Schizophrenia Research
https://www.readbyqxmd.com/read/30451850/studying-and-modulating-schizophrenia-associated-dysfunctions-of-oligodendrocytes-with-patient-specific-cell-systems
#20
REVIEW
Florian J Raabe, Sabrina Galinski, Sergi Papiol, Peter G Falkai, Andrea Schmitt, Moritz J Rossner
Postmortem studies in patients with schizophrenia (SCZ) have revealed deficits in myelination, abnormalities in myelin gene expression and altered numbers of oligodendrocytes in the brain. However, gaining mechanistic insight into oligodendrocyte (OL) dysfunction and its contribution to SCZ has been challenging because of technical hurdles. The advent of individual patient-derived human-induced pluripotent stem cells (hiPSCs), combined with the generation of in principle any neuronal and glial cell type, including OLs and oligodendrocyte precursor cells (OPCs), holds great potential for understanding the molecular basis of the aetiopathogenesis of genetically complex psychiatric diseases such as SCZ and could pave the way towards personalized medicine...
November 19, 2018: NPJ Schizophrenia
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