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https://www.readbyqxmd.com/read/28324302/huntington-s-disease-update-on-treatments
#1
REVIEW
Kara J Wyant, Andrew J Ridder, Praveen Dayalu
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, ending in death. Despite the discovery of the underlying genetic mutation more than 20 years ago, treatment remains focused on symptomatic management. Chorea, the most recognizable symptom, responds to medication that reduces dopaminergic neurotransmission. Psychiatric symptoms such as depression and anxiety may also respond well to symptomatic therapies...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28320191/c9orf72-hexanucleotide-repeat-expansions-are-not-a-common-cause-of-obsessive-compulsive-disorder
#2
Karissa C Arthur, Alberto M Rivera, Jack Samuels, Ying Wang, Marco Grados, Fernando S Goes, Brion Maher, Gerald Nestadt, Bryan J Traynor
Obsessive-compulsive disorder (OCD) is a polygenic neuropsychiatric disorder characterized by repetitive thoughts and behaviors that cause distress. The pathogenic repeat expansion [GGGGCC]n found at the C9orf72 locus is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and has also been documented in patients with psychosis and schizophrenia. Furthermore, obsessions and compulsions have been identified in patients diagnosed with ALS and/or FTD and carrying the pathogenic repeat expansion...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28318911/cannabis-use-polysubstance-use-and-psychosis-spectrum-symptoms-in-a-community-based-sample-of-u-s-youth
#3
Jason D Jones, Monica E Calkins, J Cobb Scott, Emily C Bach, Raquel E Gur
PURPOSE: To examine how cannabis use and polysubstance use among cannabis users relate to psychosis spectrum (PS) symptoms in a large community-based sample of U.S. youth. METHODS: Four thousand one hundred seventy-one youths (aged 14-21 years; mean = 16.90 years, SD = 1.85; 55% female) from the Philadelphia Neurodevelopmental Cohort completed assessments of substance use, PS symptoms, and confounding variables (e.g., demographics, comorbid psychopathology, and trauma exposure)...
March 16, 2017: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/28318360/axillary-hyperhidrosis-a-focused-review
#4
Jason E Sammons, Amor Khachemoune
Axillary hyperhidrosis is characterized by an increased amount of sweat production, localized to the armpits, to compensate for environmental conditions and to control thermoregulation. It affects about 3.12% of the US population. It has a significant effect on one's psychological and physical health, as well as one's occupational life. The objective of this paper is to review the epidemiology, clinical presentation, pathophysiology, histology, and genetics, and management and treatment of axillary hyperhidrosis...
March 20, 2017: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28317218/rodent-models-of-genetic-and-chromosomal-variations-in-psychiatric-disorders
#5
Jun Nomura, Geetha Kannan, Toru Takumi
Elucidating the molecular basis of complex human psychiatric disorders is challenging due to the multitude of factors that underpin these disorders. Genetic and chromosomal changes are two factors that have been suggested to be involved in psychiatric disorders. Indeed, numerous risk loci have been identified in autism spectrum disorders (ASD), schizophrenia, and related psychiatric disorders. Here, we introduce genetic animal models that disturb excitatory-inhibitory (E/I) balance in the brain and animal models mirroring human chromosomal abnormalities, both of which may be implicated in ASD pathophysiology...
March 20, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28315479/biopsychosocial-influence-on-shoulder-pain-rationale-and-protocol-for-a-pre-clinical-trial
#6
Steven Z George, Roland Staud, Paul A Borsa, Samuel S Wu, Margaret R Wallace, Warren H Greenfield, Lauren N Mackie, Roger B Fillingim
BACKGROUND: Chronic musculoskeletal pain conditions are a prevalent and disabling problem. Preventing chronic musculoskeletal pain requires multifactorial treatment approaches that address its complex etiology. Prior cohort studies identified a high risk subgroup comprised of variation in COMT genotype and pain catastrophizing. This subgroup had increased chance of heightened pain responses (in a pre-clinical model) and higher 12month post-operatives pain intensity ratings (in a clinical model)...
March 14, 2017: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/28315459/dynamic-reorganization-of-intrinsic-functional-networks-in-the-mouse-brain
#7
Joanes Grandjean, Maria Giulia Preti, Thomas Aw Bolton, Michaela Buerge, Erich Seifritz, Christopher R Pryce, Dimitri Van De Ville, Markus Rudin
Functional connectivity (FC) derived from resting-state functional magnetic resonance imaging (rs-fMRI) allows for the integrative study of neuronal processes at a macroscopic level. The majority of studies to date have assumed stationary interactions between brain regions, without considering the dynamic aspects of network organization. Only recently has the latter received increased attention, predominantly in human studies. Applying dynamic FC (dFC) analysis to mice is attractive given the relative simplicity of the mouse brain and the possibility to explore mechanisms underlying network dynamics using pharmacological, environmental or genetic interventions...
March 14, 2017: NeuroImage
https://www.readbyqxmd.com/read/28314733/genetics-implicate-common-mechanisms-in-autism-and-schizophrenia-synaptic-activity-and-immunity
#8
REVIEW
Xiaoming Liu, Zhengwei Li, Conghai Fan, Dongli Zhang, Jiao Chen
The diagnosis of debilitating psychiatric disorders like autism spectrum disorder (ASD) and schizophrenia (SCHZ) is on the rise. These are severe conditions that lead to social isolation and require lifelong professional care. Improved diagnosis of ASD and SCHZ provides early access to medication and therapy, but the reality is that the mechanisms and the cellular pathology underlying these conditions are mostly unknown at this time. Although both ASD and SCHZ have strong inherited components, genetic risk seems to be distributed in hundreds of variants, each conferring low risk...
March 17, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28301828/steeper-discounting-of-delayed-rewards-in-schizophrenia-but-not-first-degree-relatives
#9
Linda Q Yu, Sangil Lee, Natalie Katchmar, Theodore D Satterthwaite, Joseph W Kable, Daniel H Wolf
Excessive discounting of future rewards has been related to a variety of risky behaviors and adverse clinical conditions. Prior work examining delay discounting in schizophrenia suggests an elevated discount rate. However, it remains uncertain whether this reflects the disease process itself or an underlying genetic vulnerability, whether it is selective for delay discounting or reflects pervasive changes in decision-making, and whether it is driven by specific clinical dimensions such as cognitive impairment...
March 7, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28301762/sex-differences-in-binge-eating-gonadal-hormone-effects-across-development
#10
Kelly L Klump, Kristen M Culbert, Cheryl L Sisk
Eating disorders are highly sexually differentiated disorders that exhibit a female predominance in risk. Most theories focus on psychosocial explanations to the exclusion of biological/genetic influences. The purpose of this descriptive review is to evaluate evidence from animal and human studies in support of gonadal hormone effects on sex differences in binge eating. Although research is in its nascent stages, findings suggest that increased prenatal testosterone exposure in males appears to protect against binge eating...
March 16, 2017: Annual Review of Clinical Psychology
https://www.readbyqxmd.com/read/28301323/deciphering-the-modulatory-role-of-oxytocin-in-human-altruism
#11
René Hurlemann, Nina Marsh
Unlike any other species, humans frequently engage in altruistic behaviors by which they increase another individual's welfare even if this implies personal costs. The psychological motives underlying altruistic behaviors remain diverse, ranging from the ability to reciprocate trust and cooperation to bonding and empathizing with family members or even genetically unrelated others. This article explores the neuroendocrine architecture of altruism by emphasizing the crucial role of the evolutionarily highly conserved peptide hormone oxytocin as a modulator of cooperative behaviors including empathy-driven altruism...
March 16, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/28300617/sex-and-gender-related-prevalence-cardiovascular-risk-and-therapeutic-approach-in-metabolic-syndrome-a-review-of-the-literature
#12
REVIEW
Giacomo Pucci, Riccardo Alcidi, Lisanne Tap, Francesca Battista, Francesco Mattace-Raso, Giuseppe Schillaci
Metabolic syndrome (MS), a cluster of metabolic abnormalities linked to insulin-resistance and abdominal obesity, is associated with an increased risk of Type II diabetes mellitus (DM) and cardiovascular (CV) disease. Its prevalence is high, affecting 20% to 30% of the general population, and increases with age in a sex-specific manner: in fact, while below 50 years it is slightly higher in men, it reverses after 50 years. The pronounced age-related increase in the prevalence of MS in women occurs as the result of several factors, which may be classified into sex- and gender-related factors...
March 11, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28299468/gw-sem-a-statistical-package-to-conduct-genome-wide-structural-equation-modeling
#13
Brad Verhulst, Hermine H Maes, Michael C Neale
Improving the accuracy of phenotyping through the use of advanced psychometric tools will increase the power to find significant associations with genetic variants and expand the range of possible hypotheses that can be tested on a genome-wide scale. Multivariate methods, such as structural equation modeling (SEM), are valuable in the phenotypic analysis of psychiatric and substance use phenotypes, but these methods have not been integrated into standard genome-wide association analyses because fitting a SEM at each single nucleotide polymorphism (SNP) along the genome was hitherto considered to be too computationally demanding...
March 15, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28297590/insight-into-illness-and-cognition-in-schizophrenia-in-earlier-and-later-life
#14
Philip Gerretsen, Aristotle N Voineskos, Ariel Graff-Guerrero, Mahesh Menon, Bruce G Pollock, David C Mamo, Benoit H Mulsant, Tarek K Rajji
OBJECTIVE: Impaired insight into illness in schizophrenia is associated with illness severity and deficits in premorbid intellectual function, executive function, and memory. A previous study of patients aged 60 years and older found that illness severity and premorbid intellectual function accounted for variance in insight impairment. As such, we aimed to test whether similar relationships would be observed in earlier life. METHODS: A retrospective analysis was performed on 1 large sample of participants (n = 171) with a DSM-IV-TR diagnosis of schizophrenia aged 19 to 79 years acquired from 2 studies: (1) a psychosocial intervention trial for older persons with schizophrenia (June 2008 to May 2014) and (2) a diffusion tensor imaging and genetics study of psychosis across the life span (February 2007 to December 2013)...
March 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28296209/the-urinary-1-h-nmr-metabolomics-profile-of-an-italian-autistic-children-population-and-their-unaffected-siblings
#15
Milena Lussu, Antonio Noto, Alice Masili, Andrea C Rinaldi, Angelica Dessì, Maria De Angelis, Andrea De Giacomo, Vassilios Fanos, Luigi Atzori, Ruggiero Francavilla
Autism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined. The purpose of this study was to evaluate the potential use of (1) H-NMR metabolomics to analyze the global biochemical signature of ASD patients (n = 21) and controls (n = 21), these being siblings of autistic patients...
March 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28295013/impact-of-familial-loading-on-prefrontal-activation-in-major-psychiatric-disorders-a-near-infrared-spectroscopy-nirs-study
#16
Kazutaka Ohi, Takamitsu Shimada, Hiroaki Kihara, Toshiki Yasuyama, Kazuyuki Sawai, Yukihisa Matsuda, Kazuaki Oshima, Hiroaki Okubo, Yusuke Nitta, Takashi Uehara, Yasuhiro Kawasaki
Family history (FH) is predictive of the development of major psychiatric disorders (PSY). Familial psychiatric disorders are largely a consequence of genetic factors and typically exhibit more severe impairments. Decreased prefrontal activity during verbal fluency testing (VFT) may constitute an intermediate phenotype for PSY. We investigated whether familial PSY were associated with a greater severity of prefrontal dysfunction in accordance with genetic loading. We measured prefrontal activity during VFT using near-infrared spectroscopy (NIRS) in patients with schizophrenia (SCZ, n = 45), major depressive disorder (MDD, n = 26) or bipolar disorder (BIP, n = 22) and healthy controls (HC, n = 51)...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28294570/how-does-obesity-affect-the-endocrine-system-a-narrative-review
#17
REVIEW
M Poddar, Y Chetty, V T Chetty
Obesity is a chronic, relapsing medical condition that results from an imbalance of energy expenditure and consumption. It is a leading cause of preventable illness, disability and premature death. The causes of obesity are multifactorial and include behavioural, socioeconomic, genetic, environmental and psychosocial factors. Rarely are endocrine diseases, e.g., hypothyroidism or Cushing's syndrome, the cause of obesity. What is less understood is how obesity affects the endocrine system. In this review, we will discuss the impact of obesity on multiple endocrine systems, including the hypothalamic-pituitary axis, changes in vitamin D homeostasis, gender steroids and thyroid hormones...
March 15, 2017: Clinical Obesity
https://www.readbyqxmd.com/read/28293323/effect-of-sanitary-environmental-conditions-of-diabetic-hypertension-incidence-in-displaced-persons
#18
Muamer Muraspahić, Isaja Kastrat, Semsudin Plojović, Mirsad Imamovic, Sonja Ketin, Rade Biocanin
BACKGROUND: The abnormal conditions of life and genetic factors often play a major role in the incidence of "diabetes - diabetes", heart disease and vascular disease, jaundice and posttraumatic stress. AIM: Trauma and posttraumatic stress are most common in the displaced persons, and the focus of this paper is to focus on this issue regarding cases in former Yugoslavia, and now in our country. These diseases are caused by increased beta-cell sensitivity to viruses, the development of autoimmune antibodies attacking their pancreas cells, degenerative changes in cells that result in the change of structure and of insulin production...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28292409/therapeutic-options-to-treat-pediatric-obesity
#19
REVIEW
Allen F Browne
Obesity in children and adolescents is a severe health, psychosocial, and economic problem. Treatment of obesity should be based on the physiology, biochemistry, and genetics of the disease. Treatment is designed to prevent the comorbidities of obesity and allow a healthy, high-quality, and productive life. Treatment is based on healthy living and usually involves tools such as pharmacotherapy, medical device therapy, and bariatric surgery. Bariatric surgery is not acceptable to most patients, parents, primary care providers, and payers...
April 2017: Gastrointestinal Endoscopy Clinics of North America
https://www.readbyqxmd.com/read/28291261/modeling-anorexia-nervosa-transcriptional-insights-from-human-ipsc-derived-neurons
#20
P D Negraes, F R Cugola, R H Herai, C A Trujillo, A S Cristino, T Chailangkarn, A R Muotri, V Duvvuri
Anorexia nervosa (AN) is a complex and multifactorial disorder occurring predominantly in women. Despite having the highest mortality among psychiatric conditions, it still lacks robust and effective treatment. Disorders such as AN are most likely syndromes with multiple genetic contributions, however, genome-wide studies have been underpowered to reveal associations with this uncommon illness. Here, we generated induced pluripotent stem cells (iPSCs) from adolescent females with AN and unaffected controls...
March 14, 2017: Translational Psychiatry
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