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https://www.readbyqxmd.com/read/30121372/recurrent-rttn-mutation-leading-to-severe-microcephaly-polymicrogyria-and-growth-restriction
#1
Mara Cavallin, Amandine Bery, Camille Maillard, Laurent J Salomon, Christine Bole, Madeline Louise Reilly, Patrick Nitschké, Nathalie Boddaert, Nadia Bahi-Buisson
Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A > G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family. The patient showed early onset primary microcephaly, detected in the fetal period, postnatal growth restriction, encephalopathy with hyperkinetic movement disorders and self-injurious behavior with sleep disturbance...
August 16, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/30120726/sources-of-stress-among-adults-with-co-occurring-drug-use-and-depressive-symptoms
#2
Kayla N Tormohlen, Karin E Tobin, Carl Latkin
Stress, drug use, and depression are interconnected, but less is understood about sources of stress among adults with co-occurring drug use and depressive symptoms. The current study aimed to identify sources of stress and correlates among these adults. Data come from a cross-sectional baseline survey, including participants (n = 336) 18 to 55 years old, who reported past 6-month heroin or cocaine use and depressive symptoms. Exploratory factor analysis was conducted to identify sources of stress. Chi-square and multivariable Poisson regression with robust error variance were used to explore correlates of each factor...
August 17, 2018: Journal of Urban Health: Bulletin of the New York Academy of Medicine
https://www.readbyqxmd.com/read/30120578/the-epidemiology-of-sleep-and-diabetes
#3
REVIEW
Rachel P Ogilvie, Sanjay R Patel
PURPOSE OF REVIEW: To provide an overview of the mechanistic and epidemiologic evidence linking sleep-related exposures, such as short sleep duration, obstructive sleep apnea, shift work, and insomnia, with type 2 diabetes risk in adults. RECENT FINDINGS: Both poor sleep habits and sleep disorders are highly prevalent among adults with type 2 diabetes. In observational studies, short sleep duration, obstructive sleep apnea, shift work, and insomnia are all associated with higher risk of incident type 2 diabetes and may predict worse outcomes in those with existing diabetes...
August 17, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/30119933/prevalence-of-pre-diagnostic-symptoms-did-not-differ-between-lrrk2-related-gba-related-and-idiopathic-patients-with-parkinson-s-disease
#4
Shu-Ying Liu, Zheng Zheng, Zhu-Qin Gu, Chao-Dong Wang, Bei-Sha Tang, Yan-Ming Xu, Jing-Hong Ma, Yong-Tao Zhou, Tao Feng, Sheng-Di Chen, Piu Chan
INTRODUCTION: Glucocerebrosidase (GBA) mutations and leucine-rich repeat kinase 2 (LRRK2) variants are the most common genetic risk factors for late-onset Parkinson's disease (PD). In this study, we aimed to investigate the differences in pre-diagnostic symptoms of PD associated with the variants. METHODS: The participants were recruited from 24 centers across China and genotyped for LRRK2 G2385R and R1628P variants and GBA L444P mutation. Participants were surveyed with structural questionnaires for history of environmental exposure and living habits and interviewed to collect the time at onset of each symptoms before diagnosis...
August 14, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30119840/the-neuroanatomy-of-somatoform-disorders-a-magnetic-resonance-imaging-study
#5
G Delvecchio, M G Rossetti, E Caletti, A Arighi, D Galimberti, P Basilico, M Mercurio, R A Paoli, C Cinnante, F Triulzi, A C Altamura, E Scarpini, P Brambilla
BACKGROUND: Somatoform Disorders (SD) are a heterogeneous group of psychiatric syndromes characterized by common symptoms, which may mimic a physical condition but they are not explained by a medical condition. Although the biologic nature of this disorder has been widely accepted, the neuroanatomical correlates characterizing SD are still inconclusive. Therefore, this study aims to explore gray matter (GM) volume alterations in SD patients compared to healthy controls and their possible association with clinical and cognitive measures...
July 20, 2018: Psychosomatics
https://www.readbyqxmd.com/read/30119649/phenotypic-variability-of-niemann-pick-disease-type-c-including-a-case-with-clinically-pure-schizophrenia-a-case-report
#6
Tomoya Kawazoe, Toshiyuki Yamamoto, Aya Narita, Kousaku Ohno, Kaori Adachi, Eiji Nanba, Atsuko Noguchi, Tsutomu Takahashi, Masamitsu Maekawa, Yoshikatsu Eto, Masafumi Ogawa, Miho Murata, Yuji Takahashi
BACKGROUND: Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because of remarkably variable clinical presentations. The NPC Suspicion Index (NPC-SI) was developed to overcome this problem. Identifying preclinical cases is important for prevention and therapy. Here, we report three newly diagnosed NPC cases, one typical juvenile-onset case and the cases of two sisters with symptoms neurologically/psychiatrically indistinguishable from dystonia and schizophrenia, respectively...
August 17, 2018: BMC Neurology
https://www.readbyqxmd.com/read/30119627/development-of-a-personalized-diagnostic-model-for-kidney-stone-disease-tailored-to-acute-care-by-integrating-large-clinical-demographics-and-laboratory-data-the-diagnostic-acute-care-algorithm-kidney-stones-daca-ks
#7
Zhaoyi Chen, Victoria Y Bird, Rupam Ruchi, Mark S Segal, Jiang Bian, Saeed R Khan, Marie-Carmelle Elie, Mattia Prosperi
BACKGROUND: Kidney stone (KS) disease has high, increasing prevalence in the United States and poses a massive economic burden. Diagnostics algorithms of KS only use a few variables with a limited sensitivity and specificity. In this study, we tested a big data approach to infer and validate a 'multi-domain' personalized diagnostic acute care algorithm for KS (DACA-KS), merging demographic, vital signs, clinical, and laboratory information. METHODS: We utilized a large, single-center database of patients admitted to acute care units in a large tertiary care hospital...
August 17, 2018: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/30118919/pharmacological-treatment-for-rem-sleep-behavior-disorder-in-parkinson-disease-and-related-conditions-a-scoping-review
#8
REVIEW
Carlos Mauricio Oliveira de Almeida, Daniela Vianna Pachito, Manoel Alves Sobreira-Neto, Vitor Tumas, Alan Luiz Eckeli
Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by the presence of a complex of signals resulting from the loss of REM sleep atony and manifested by vigorous and sometimes violent motor jerks and nocturnal vocalizations associated with dream enactment. RBD might be a clinical predictor of severity for Parkinson's disease (PD) and one of its most important non-motor manifestations, preceding the emergence of synucleinopathy by several years or even decades. The detection of RBD may represent a therapeutic window for research regarding the development of new neuroprotective therapies with the potential to modify the natural course of synucleinopathies, such as PD...
August 10, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30118631/soldiers-and-leaders-with-combat-experience-unit-health-and-climate
#9
Amanda L Adrian, Jeffrey L Thomas, Amy B Adler
OBJECTIVE: The present study investigated the association between previous deployment experience and somatic symptoms, mental health, unit climate perceptions, anger, and risk taking among junior-enlisted soldiers who were preparing to deploy or who were in garrison, or home duty station. The study also investigated potential differences in these variables based on unit leader deployment history. METHOD: Soldiers in a combat unit were surveyed either in a predeployment (n = 1,554; one week before deployment) or garrison setting (n = 1,326)...
August 17, 2018: Psychiatry
https://www.readbyqxmd.com/read/30117079/correction-to-outcomes-of-a-behavioral-intervention-for-sleep-disturbances-in-children-with-autism-spectrum-disorder
#10
Sela Ann Sanberg, Brett R Kuhn, Abigail E Kennedy
The original version of this article unfortunately contained errors. The errors induced during the production process are corrected. The correct keywords, figures and tables are given below.
August 16, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/30116769/rem-sleep-and-safety-signal-learning-in-posttraumatic-stress-disorder-a-preliminary-study-in-military-veterans
#11
Laura D Straus, Sonya B Norman, Victoria B Risbrough, Dean T Acheson, Sean P A Drummond
Background: Posttraumatic Stress Disorder (PTSD) is associated with a number of negative physical and mental health consequences. Fear conditioning plays an important mechanistic role in PTSD, and PTSD patients also show deficits in safety signal learning. Sleep, particularly REM sleep, is linked to improved safety learning and extinction processes in animal models and healthy humans. No studies have examined the link between REM sleep and safety signal learning or extinction memory in clinical populations...
November 2018: Neurobiology of Stress
https://www.readbyqxmd.com/read/30115041/prompt-mental-health-care-the-norwegian-version-of-iapt-clinical-outcomes-and-predictors-of-change-in-a-multicenter-cohort-study
#12
Marit Knapstad, Tine Nordgreen, Otto R F Smith
BACKGROUND: Prompt mental health care (PMHC) is a Norwegian initiative, inspired by the English 'Improving Access to Psychological Therapy' (IAPT), aimed to provide low-threshold access to primary care treatment for persons with symptoms of anxiety and depression. The objectives of the present study are to describe the PMHC service, to examine changes in symptoms of anxiety and depression following treatment and to identify predictors of change, using data from the 12 first pilot sites...
August 16, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/30113112/development-and-evaluation-of-a-multimodal-marker-of-major-depressive-disorder
#13
Jie Yang, Mengru Zhang, Hongshik Ahn, Qing Zhang, Tony B Jin, Ien A Li, Matthew Nemesure, Nandita Joshi, Haoran Jiang, Jeffrey M Miller, Robert Todd Ogden, Eva Petkova, Matthew S Milak, Mary Elizabeth Sublette, Gregory M Sullivan, Madhukar H Trivedi, Myrna Weissman, Patrick J McGrath, Maurizio Fava, Benji T Kurian, Diego A Pizzagalli, Crystal M Cooper, Melvin McInnis, Maria A Oquendo, Joseph John Mann, Ramin V Parsey, Christine DeLorenzo
This study aimed to identify biomarkers of major depressive disorder (MDD), by relating neuroimage-derived measures to binary (MDD/control), ordinal (severe MDD/mild MDD/control), or continuous (depression severity) outcomes. To address MDD heterogeneity, factors (severity of psychic depression, motivation, anxiety, psychosis, and sleep disturbance) were also used as outcomes. A multisite, multimodal imaging (diffusion MRI [dMRI] and structural MRI [sMRI]) cohort (52 controls and 147 MDD patients) and several modeling techniques-penalized logistic regression, random forest, and support vector machine (SVM)-were used...
August 16, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/30113084/the-influence-of-sleep-disorders-on-the-quality-of-life-in-patients-with-chronic-low-back-pain
#14
Izabella Uchmanowicz, Aleksandra Kołtuniuk, Aneta Stępień, Bartosz Uchmanowicz, Joanna Rosińczuk
INTRODUCTION: Low back pain (LBP) is one of the most common pain syndromes, and its prevalence has increased significantly in the past three decades. OBJECTIVES: The aim of this study was to evaluate the effects of insomnia and daytime sleepiness on the quality of life (QOL) of patients suffering from chronic back pain. MATERIAL AND METHODS: It is a cross-sectional study conducted among 100 people (aged 25-75 years - mean age 49.53 ± 10.92) treated in a neurological clinic for chronic back pain lasting longer than 3 months...
August 16, 2018: Scandinavian Journal of Caring Sciences
https://www.readbyqxmd.com/read/30112298/jet-lag-heuristics-and-therapeutics
#15
REVIEW
Paurush Ambesh, Vijay Shetty, Sahitya Ambesh, Sushilkumar Satish Gupta, Stephan Kamholz, Lawrence Wolf
Jet lag is one of those common medical problems, to which most people don't give a serious thought. However, it is intricately intertwined with our normal circadian rhythm. It is classified as a sleep disorder. There is also a dearth of good scientific literature, not to mention clinical trials on the subject. Slowly but steadily, the scientific community is realizing the various deleterious health effects of jet lag and is devising innovative methods to counter them. This narrative review touches upon the etiopathogenesis, clinical manifestations and therapeutic strategies effective against the nagging problem of jet lag...
May 2018: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/30111810/a-direct-interaction-between-two-restless-legs-syndrome-predisposing-genes-meis1-and-skor1
#16
Helene Catoire, Faezeh Sarayloo, Karim Mourabit Amari, Sergio Apuzzo, Alanna Grant, Daniel Rochefort, Lan Xiong, Jacques Montplaisir, Christopher J Earley, Gustavo Turecki, Patrick A Dion, Guy A Rouleau
Restless Legs syndrome (RLS) is a common sleep disorder for which the genetic contribution remains poorly explained. In 2007, the first large scale genome wide association study (GWAS) identified three genomic regions associated with RLS. MEIS1, BTBD9 and MAP2K5/SKOR1 are the only known genes located within these loci and their association with RLS was subsequently confirmed in a number of follow up GWAS. Following this finding, our group reported the MEIS1 risk haplotype to be associated with its decreased expression at the mRNA and protein levels...
August 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30110606/orexinergic-neurons-are-involved-in-the-chemosensory-control-of-breathing-during-the-dark-phase-in-a-parkinson-s-disease-model
#17
Luiz M Oliveira, Barbara Falquetto, Thiago S Moreira, Ana C Takakura
Parkinson's disease (PD) is a neurodegenerative disorder characterized by loss of dopaminergic neurons in the substantia nigra compacta (SNpc) and the only risk factor is aging. We showed that in 6-hydroxydopamine (6-OHDA)-model of PD there is a reduction in the neuronal profile within the brainstem ventral respiratory column with a decrease in the hypercapnic ventilatory response. Here we tested the involvement of orexin cells from the lateral hypothalamus/perifornical area (LH/PeF) on breathing in a 6-OHDA PD model...
August 12, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/30109824/the-neurobiological-basis-of-sleep-and-sleep-disorders
#18
William J Joiner
The functions of sleep remain a mystery. Yet they must be important since sleep is highly conserved, and its chronic disruption is associated with various metabolic, psychiatric, and neurodegenerative disorders. This review will cover our evolving understanding of the mechanisms by which sleep is controlled and the complex relationship between sleep and disease states.
September 1, 2018: Physiology
https://www.readbyqxmd.com/read/30109368/post-traumatic-stress-disorder-anxiety-and-depression-symptoms-among-adolescent-earthquake-victims-comorbidity-and-associated-sleep-disturbing-factors
#19
Wanjie Tang, Yi Lu, Jiuping Xu
PURPOSE: Our study aimed to examine the prevalence of psychiatric symptoms and their comorbidity and correlation with sleep problems among adolescent survivors 3 years after the 2013 Ya'an earthquake. METHODS: A representative sample of 6132 adolescent students was analysed from 11 primary and high schools in the three counties most severely affected by the earthquake. Students were invited to complete the Pittsburgh Sleep Quality Index, Children's Revised Impact of Event Scale-13, Short Mood and Feelings Questionnaire, the Adolescent Self-Rating Life Events Checklist, and Screen for Child Anxiety-Related Emotional Disorders...
August 14, 2018: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/30109150/fast-convolutional-method-for-automatic-sleep-stage-classification
#20
Intan Nurma Yulita, Mohamad Ivan Fanany, Aniati Murni Arymurthy
Objectives: Polysomnography is essential to diagnose sleep disorders. It is used to identify a patient's sleep pattern during sleep. This pattern is obtained by a doctor or health practitioner by using a scoring process, which is time consuming. To overcome this problem, we developed a system that can automatically classify sleep stages. Methods: This paper proposes a new method for sleep stage classification, called the fast convolutional method. The proposed method was evaluated against two sleep datasets...
July 2018: Healthcare Informatics Research
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