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Endophenotypes

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https://www.readbyqxmd.com/read/29468918/relations-between-sleep-and-temperament-in-preschool-children-with-adhd
#1
Maria Grazia Melegari, Stefania Sette, Elena Vittori, Luca Mallia, Alessandra Devoto, Fabio Lucidi, Raffaele Ferri, Oliviero Bruni
OBJECTIVE: The objective of this study was to assess the links between temperament and sleep in a group of preschoolers with ADHD. METHOD: Twenty-five ADHD ( M = 5.37 years, SD = 1.09) and 22 typically developing (TD; M = 5.10, SD = 1.18) preschoolers participated in the study. Sleep was assessed with the Sleep Disturbance Scale and wrist actigraphy. The Preschool Temperament and Character Inventory (PsTCI) was used to evaluate the child temperament. RESULTS: ADHD children showed a temperamental profile characterized by higher novelty seeking, lower persistence, self-directness, and cooperativeness and marginally lower harm avoidance (HA) compared with controls...
February 1, 2018: Journal of Attention Disorders
https://www.readbyqxmd.com/read/29468419/establishment-of-an-italian-chronic-migraine-database-a-multicenter-pilot-study
#2
Piero Barbanti, L Fofi, S Cevoli, P Torelli, C Aurilia, G Egeo, L Grazzi, D D'Amico, G C Manzoni, P Cortelli, F Infarinato, N Vanacore
To optimize chronic migraine (CM) ascertainment and phenotype definition, provide adequate clinical management and health care procedures, and rationalize economic resources allocation, we performed an exploratory multicenter pilot study aimed at establishing a CM database, the first step for developing a future Italian CM registry. We enrolled 63 consecutive CM patients in four tertiary headache centers screened with face-to-face interviews using an ad hoc dedicated semi-structured questionnaire gathering detailed information on life-style, behavioral and socio-demographic factors, comorbidities, and migraine features before and after chronicization and healthcare resource use...
February 22, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29466051/effect-of-a-syringe-aspiration-technique-versus-a-mechanical-suction-technique-and-use-of-n-butylscopolammonium-bromide-on-the-quantity-and-quality-of-bronchoalveolar-lavage-fluid-samples-obtained-from-horses-with-the-summer-pasture-endophenotype-of-equine
#3
Jacquelyn E Bowser, Lais R R Costa, Alba U Rodil, Christine T Lopp, Melanie E Johnson, Robert W Wills, Cyprianna E Swiderski
OBJECTIVE To evaluate the effect of 2 bronchoalveolar lavage (BAL) sampling techniques and the use of N-butylscopolammonium bromide (NBB) on the quantity and quality of BAL fluid (BALF) samples obtained from horses with the summer pasture endophenotype of equine asthma. ANIMALS 8 horses with the summer pasture endophenotype of equine asthma. PROCEDURES BAL was performed bilaterally (right and left lung sites) with a flexible videoendoscope passed through the left or right nasal passage. During lavage of the first lung site, a BALF sample was collected by means of either gentle syringe aspiration or mechanical suction with a pressure-regulated wall-mounted suction pump...
March 2018: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/29466043/neuropathologic-features-of-the-hippocampus-and-amygdala-in-cats-with-familial-spontaneous-epilepsy
#4
Yoshihiko Yu, Daisuke Hasegawa, Yuji Hamamoto, Shunta Mizoguchi, Takayuki Kuwabara, Aki Fujiwara-Igarashi, Masaya Tsuboi, James Ken Chambers, Michio Fujita, Kazuyuki Uchida
OBJECTIVE To investigate epilepsy-related neuropathologic changes in cats of a familial spontaneous epileptic strain (ie, familial spontaneous epileptic cats [FSECs]). ANIMALS 6 FSECs, 9 age-matched unrelated healthy control cats, and 2 nonaffected (without clinical seizures)dams and 1 nonaffected sire of FSECs. PROCEDURES Immunohistochemical analyses were used to evaluate hippocampal sclerosis, amygdaloid sclerosis, mossy fiber sprouting, and granule cell pathological changes. Values were compared between FSECs and control cats...
March 2018: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/29458411/genome-wide-pleiotropy-analysis-of-neuropathological-traits-related-to-alzheimer-s-disease
#5
Jaeyoon Chung, Xiaoling Zhang, Mariet Allen, Xue Wang, Yiyi Ma, Gary Beecham, Thomas J Montine, Steven G Younkin, Dennis W Dickson, Todd E Golde, Nathan D Price, Nilüfer Ertekin-Taner, Kathryn L Lunetta, Jesse Mez, Richard Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Gerard Schellenberg, Gyungah R Jun, Lindsay A Farrer
BACKGROUND: Simultaneous consideration of two neuropathological traits related to Alzheimer's disease (AD) has not been attempted in a genome-wide association study. METHODS: We conducted genome-wide pleiotropy analyses using association summary statistics from the Beecham et al. study (PLoS Genet 10:e1004606, 2014) for AD-related neuropathological traits, including neuritic plaque (NP), neurofibrillary tangle (NFT), and cerebral amyloid angiopathy (CAA). Significant findings were further examined by expression quantitative trait locus and differentially expressed gene analyses in AD vs...
February 20, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29447300/explaining-suicide-attempt-with-personality-traits-of-aggression-and-impulsivity-in-a-high-risk-tribal-population-of-india
#6
Piyoosh Kumar Singh, V R Rao
INTRODUCTION: Suicide is a spectrum of behavior including suicide ideation and suicidal attempt and is undoubtedly the outcome of the interaction of several factors. The role of two main constructs of human nature, aggression and impulsivity, has been discussed broadly in relation to suicide, as endophenotypes or traits of personality, in research and in clinical practice across diagnoses. The objective of our study was to assess impulsive and aggressive behaviors among primitive people of the Idu Mishmi tribe, who are known for high suicide completer and attempter rates...
2018: PloS One
https://www.readbyqxmd.com/read/29442378/-shine-bright-like-a-diamond-is-research-on-high-functioning-adhd-at-last-entering-the-mainstream
#7
EDITORIAL
Klaus-Peter Lesch
The paper by Greven and colleagues (this issue) is intensifying discussion how research on attention-deficit/hyperactivity disorder (ADHD) can be moved away from the deficit-focused view to a concept, which is oriented towards resources a patient might be able to recruit to function at a high-level despite impairments. To promote understanding of high-functioning (HF)-ADHD, more longitudinal studies are required employing neuropsychologic, neuroimaging and neurobiologic approaches, with focus on compensatory mechanisms during fronto-striatal-amygdala maturation and adult plasticity as well as epigenetic modification marker screening strategies to identify homoeostatic processes of resilience in endophenotypic traits related to coping styles of target groups...
March 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29441659/genetic-polymorphisms-associated-with-circadian-rhythm-dysregulation-provide-new-perspectives-on-bipolar-disorder
#8
REVIEW
Thomaz Oliveira, Victor Marinho, Valécia Carvalho, Francisco Magalhães, Kaline Rocha, Carla Ayres, Silmar Teixeira, Monara Nunes, Victor Hugo Bastos, Giovanny R Pinto
OBJECTIVES: The objective of this study was to present a broad view of how genetic polymorphisms in genes that control the rhythmicity and function of circadian rhythm may influence the etiology, pathophysiology and treatment of bipolar disorder (BD). METHODS: A bibliographic search was performed to identify and select papers reporting studies on variations in circadian genes and BD. A search of Medline, Google Scholar, Scopus, and Web of Science was carried out to review the literature...
February 13, 2018: Bipolar Disorders
https://www.readbyqxmd.com/read/29437016/commentary-endophenotypes-as-disease-modifiers-decoding-the-biology-of-alzheimer-s-by-genome-wide-association-studies
#9
A R Neelakandan, G K Rajanikant
No abstract text is available yet for this article.
February 13, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29434535/altered-expression-profile-of-iglon-family-of-neural-cell-adhesion-molecules-in-the-dorsolateral-prefrontal-cortex-of-schizophrenic-patients
#10
Karina Karis, Kattri-Liis Eskla, Maria Kaare, Karin Täht, Jana Tuusov, Tanel Visnapuu, Jürgen Innos, Mohan Jayaram, Tõnis Timmusk, Cynthia S Weickert, Marika Väli, Eero Vasar, Mari-Anne Philips
Neural adhesion proteins are crucial in the development and maintenance of functional neural connectivity. Growing evidence suggests that the IgLON family of neural adhesion molecules LSAMP, NTM, NEGR1, and OPCML are important candidates in forming the susceptibility to schizophrenia (SCZ). IgLON proteins have been shown to be involved in neurite outgrowth, synaptic plasticity and neuronal connectivity, all of which have been shown to be altered in the brains of patients with the diagnosis of schizophrenia...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29430562/specific-symptoms-may-discriminate-between-fibromyalgia-patients-with-vs-without-objective-test-evidence-of-small-fiber-polyneuropathy
#11
Mette Lodahl, Roi Treister, Anne Louise Oaklander
Introduction: Multiple studies now confirm that ∼40% of patients with fibromyalgia syndrome meet diagnostic criteria for small-fiber polyneuropathy (SFPN) and have objective pathologic or physiologic evidence of SFPN, whereas 60% do not. Given possibilities that tens or hundreds of millions globally could have SFPN, developing screening tools becomes important. Objectives: This analysis explored whether specific symptoms might help distinguish these fibromyalgia endophenotypes...
January 2018: Pain Reports (Baltimore, Md.)
https://www.readbyqxmd.com/read/29426848/sleep-endophenotypes-of-schizophrenia-slow-waves-and-sleep-spindles-in-unaffected-first-degree-relatives
#12
Armando D'Agostino, Anna Castelnovo, Simone Cavallotti, Cecilia Casetta, Matteo Marcatili, Orsola Gambini, Mariapaola Canevini, Giulio Tononi, Brady Riedner, Fabio Ferrarelli, Simone Sarasso
Sleep spindles and slow waves are the main brain oscillations occurring in non-REM sleep. Several lines of evidence suggest that spindles are initiated within the thalamus, whereas slow waves are generated and modulated in the cortex. A decrease in sleep spindle activity has been described in Schizophrenia (SCZ), including chronic, early course, and early onset patients. In contrast, slow waves have been inconsistently found to be reduced in SCZ, possibly due to confounds like duration of illness and antipsychotic medication exposure...
February 9, 2018: NPJ Schizophrenia
https://www.readbyqxmd.com/read/29410046/systems-biology-and-in-vitro-validation-identifies-fam129a-as-asthma-steroid-response-modulator
#13
Michael J McGeachie, George L Clemmer, Boris Hayete, Heming Xing, Karl Runge, Ann Chen Wu, Xiaofeng Jiang, Quan Lu, Bruce Church, Iya Khalil, Kelan Tantisira, Scott Weiss
BACKGROUND: Variation in response to the most commonly used class of asthma controller medication, inhaled corticosteroids (ICS), presents a serious challenge in asthma management, particularly for steroid-resistant patients who display little or no response to treatment. OBJECTIVE: We applied a systems-biology approach to primary clinical and genomic data to identify and validate genes that modulate steroid response in children with asthma. METHODS: We selected 104 ICS-treated asthmatic non-Hispanic white children and determined a Steroid Responsiveness Endophenotype (SRE) using observations of six clinical measures over four years...
January 30, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29409977/extending-the-analysis-of-zebrafish-behavioral-endophenotypes-for-modeling-psychiatric-disorders-fear-conditioning-to-conspecific-alarm-response
#14
Caio Maximino, Daniele L Meinerz, Barbara D Fontana, Nathana J Mezzomo, Flavia V Stefanello, Alessandro de S Prestes, Cibele B Batista, Maribel A Rubin, Nilda V Barbosa, João Batista T Rocha, Monica G Lima, Denis B Rosemberg
Anxiety, trauma- and stressor-related disorders are severe psychiatric conditions that affect human population worldwide. Given their genetic tractability, evolutionarily conserved neurotransmitter systems, and extensive behavioral repertoire, zebrafish have become an emergent model organism in translational neuroscience. Here, we investigate whether a single exposure to conspecific alarm substance (CAS) produces fear conditioning in zebrafish using a conditioned place aversion (CPA) paradigm, as well as the persistence of aversive responses at different time intervals...
February 2, 2018: Behavioural Processes
https://www.readbyqxmd.com/read/29396321/conceptual-endophentoypes-a-strategy-to-advance-the-impact-of-psychoneuroendocrinology-in-precision-medicine
#15
REVIEW
Dirk Hellhammer, Gunther Meinlschmidt, Jens C Pruessner
Psychobiological research has generated a tremendous amount of findings on the psychological, neuroendocrine, molecular and environmental processes that are directly relevant for mental and physical health, but have overwhelmed our capacity to meaningfully absorb, integrate, and utilize this knowledge base. Here, we reflect about suitable strategies to improve the translational success of psychoneuroendocrinological research in the era of precision medicine. Following a strategy advocated by the National Research Council and the tradition of endophenotype-based research, we advance here a new approach, termed "conceptual endophenotypes"...
January 9, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29396146/defining-substance-use-disorders-the-need-for-peripheral-biomarkers
#16
REVIEW
Kristopher J Bough, Jonathan D Pollock
Addiction is a brain disease, and current diagnostic criteria for substance use disorders (SUDs) are qualitative. Nevertheless, scientific advances are beginning to characterize neurobiological domains. Combining multiple units of measure may provide an opportunity to deconstruct the heterogeneities of a SUD and define endophenotypes by using peripheral biospecimens. There are several recent examples of potential biomarker types that can be examined, together with their categorical applications for SUDs. We propose that, in conjunction with rapidly advancing statistical and mathematical modeling techniques, there is now a unique opportunity for the discovery of composite biomarkers within specific domains of addiction; these may lay the foundation for future biomarker qualification, with important implications for drug development and medical care...
January 15, 2018: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/29395244/the-effects-of-ghrelin-on-sleep-appetite-and-memory-and-its-possible-role-in-depression-a-review-of-the-literature
#17
V Morin, F Hozer, J-F Costemale-Lacoste
OBJECTIVES: Ghrelin is an orexigenic digestive hormone that plays a role in sleep and memory. Our work aims is to synthesize the effects of ghrelin on appetite, sleep and memory, and also to evidence its role in depressive disorders. METHODS: A systematic search was carried out on PubMed with no time boundaries. The following MeSH terms were used: ghrelin AND (appetite regulation OR obesity), (sleep wake disorders OR sleep) (memory OR cognition disorders) (depression OR depressive disorder OR mood disorder)...
January 26, 2018: L'Encéphale
https://www.readbyqxmd.com/read/29394989/assessment-of-the-clinical-relevance-of-brca2-missense-variants-by-functional-and-computational-approaches
#18
Lucia Guidugli, Hermela Shimelis, David L Masica, Vernon S Pankratz, Gary B Lipton, Namit Singh, Chunling Hu, Alvaro N A Monteiro, Noralane M Lindor, David E Goldgar, Rachel Karchin, Edwin S Iversen, Fergus J Couch
Many variants of uncertain significance (VUS) have been identified in BRCA2 through clinical genetic testing. VUS pose a significant clinical challenge because the contribution of these variants to cancer risk has not been determined. We conducted a comprehensive assessment of VUS in the BRCA2 C-terminal DNA binding domain (DBD) by using a validated functional assay of BRCA2 homologous recombination (HR) DNA-repair activity and defined a classifier of variant pathogenicity. Among 139 variants evaluated, 54 had ≥99% probability of pathogenicity, and 73 had ≥95% probability of neutrality...
January 17, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29370954/how-to-disentangle-psychobiological-stress-reactivity-and-recovery-a-comparison-of-model-based-and-non-compartmental-analyses-of-cortisol-concentrations
#19
Robert Miller, Jan-Georg Wojtyniak, Lisa J Weckesser, Nina C Alexander, Veronika Engert, Thorsten Lehr
This article seeks to address the prevailing issue of how to measure specific process components of psychobiological stress responses. Particularly the change of cortisol secretion due to stress exposure has been discussed as an endophenotype of many psychosomatic health outcomes. To assess its process components, a large variety of non-compartmental parameters (i.e., composite measures of substance concentrations at different points in time) like the area under the concentration-time curve (AUC) are commonly utilized...
December 29, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29370871/data-driven-identification-of-endophenotypes-of-alzheimer-s-disease-progression-implications-for-clinical-trials-and-therapeutic-interventions
#20
Nophar Geifman, Richard E Kennedy, Lon S Schneider, Iain Buchan, Roberta Diaz Brinton
BACKGROUND: Given the complex and progressive nature of Alzheimer's disease (AD), a precision medicine approach for diagnosis and treatment requires the identification of patient subgroups with biomedically distinct and actionable phenotype definitions. METHODS: Longitudinal patient-level data for 1160 AD patients receiving placebo or no treatment with a follow-up of up to 18 months were extracted from an integrated clinical trials dataset. We used latent class mixed modelling (LCMM) to identify patient subgroups demonstrating distinct patterns of change over time in disease severity, as measured by the Alzheimer's Disease Assessment Scale-cognitive subscale score...
January 15, 2018: Alzheimer's Research & Therapy
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