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https://www.readbyqxmd.com/read/28228833/disruption-of-the-photoreceptor-inner-segment-outer-segment-junction-in-a-6-year-old-girl-with-joubert-syndrome
#1
Shimpei Baba, Eri Takeshita, Hiroko Yamazaki, Mikako Tarashima, Masayuki Sasaki
Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Although JS patients often have retinal degeneration with varying severity, few investigators have utilised OCT in their investigations...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28225946/the-intellectual-developmental-disorders-mexico-study-situational-diagnosis-burden-genomics-and-intervention-proposal
#2
Eduardo Lazcano-Ponce, Gregorio Katz, Rocío Rodríguez-Valentín, Filipa de Castro, Betania Allen-Leigh, María Elena Márquez-Caraveo, Miguel Ángel Ramírez-García, Eduardo Arroyo-García, María Elena Medina-Mora, Gustavo Ángeles, José Edmundo Urquieta-Salomón, Luis Salvador-Carulla
Objective: This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. Materials and methods: IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses of families with a member with an IDD will be evaluated. Genomic characterization of IDD will include: sequencing participant exomes and performing bioinformatics analyses to identify de novo or inherited variants through trio analysis; identifying genetic variants associated with IDD, and validating randomly selected variants by polymerase chain reaction (PCR) and sequencing or real-time quantitative PCR (qPCR)...
November 2016: Salud Pública de México
https://www.readbyqxmd.com/read/28224735/genetic-risk-variants-for-social-anxiety
#3
Murray B Stein, Chia-Yen Chen, Sonia Jain, Kevin P Jensen, Feng He, Steven G Heeringa, Ronald C Kessler, Adam Maihofer, Matthew K Nock, Stephan Ripke, Xiaoying Sun, Michael L Thomas, Robert J Ursano, Jordan W Smoller, Joel Gelernter
Social anxiety is a neurobehavioral trait characterized by fear and reticence in social situations. Twin studies have shown that social anxiety has a heritable basis, shared with neuroticism and extraversion, but genetic studies have yet to demonstrate robust risk variants. We conducted genomewide association analysis (GWAS) of subjects within the Army Study To Assess Risk and Resilience in Servicemembers (Army STARRS) to (i) determine SNP-based heritability of social anxiety; (ii) discern genetic risk loci for social anxiety; and (iii) determine shared genetic risk with neuroticism and extraversion...
March 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28222810/does-nordic-walking-restore-the-temporal-organization-of-gait-variability-in-parkinson-s-disease
#4
Thibault Warlop, Christine Detrembleur, Maïté Buxes Lopez, Gaëtan Stoquart, Thierry Lejeune, Anne Jeanjean
BACKGROUND: Gait disorders of Parkinson's disease (PD) are characterized by the breakdown of the temporal organization of stride duration variability that was tightly associated to dynamic instability in PD. Activating the upper body during walking, Nordic Walking (NW) may be used as an external cueing to improve spatiotemporal parameters of gait, such as stride length or gait variability, in PD. The aim of this study was to evaluate the beneficial effects of NW on temporal organization of gait variability and spatiotemporal gait variables in PD...
February 21, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28222465/autologous-conditioned-plasma-versus-placebo-injection-therapy-in-lateral-epicondylitis-of-the-elbow-a-double-blind-randomized-study
#5
Volker Schöffl, Wolfgang Willauschus, Felix Sauer, Thomas Küpper, Isabelle Schöffl, Christoph Lutter, Kolja Gelse, Jörg Dickschas
Introduction There are various therapeutic approaches to the treatment of lateral epicondylitis, a highly prevalent musculoskeletal disorder. Recently, injection therapy with autologous conditioned plasma (ACP) has shown promise as a new approach. Methods Set up as a prospective, double-blind, randomized controlled clinical trial, this study involved 50 patients with lateral epicondylitis. Following external randomization, 25 patients received one round of injection therapy with ACP (platelet rich plasma, PRP), while the remaining 25 patients received a placebo of 0...
February 21, 2017: Sportverletzung Sportschaden: Organ der Gesellschaft Für Orthopädisch-Traumatologische Sportmedizin
https://www.readbyqxmd.com/read/28221676/key-factors-that-influence-government-policies-and-decision-making-about-healthcare-priorities-lessons-for-the-field-of-eating-disorders
#6
Harvey Whiteford, Ruth Striegel Weissman
Worldwide, the demand for healthcare exceeds what individuals and governments are able to afford. Priority setting is therefore inevitable, and mental health services have often been given low priority in the decision-making process. Drawing on established economic criteria, and specifically the work of Philip Musgrove, key factors which influence government decision-making about health priorities are reviewed. These factors include the size of the health burden, the availability of cost-effective interventions to reduce the burden, whether private markets can provide the necessary treatment efficiently, whether there are "catastrophic costs" incurred in accessing treatment, whether negative externalities arise from not providing care, and if the "rule of rescue" applies...
February 21, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/28221063/what-five-decades-of-research-tells-us-about-the-effects-of-youth-psychological-therapy-a-multilevel-meta-analysis-and-implications-for-science-and-practice
#7
John R Weisz, Sofie Kuppens, Mei Yi Ng, Dikla Eckshtain, Ana M Ugueto, Rachel Vaughn-Coaxum, Amanda Jensen-Doss, Kristin M Hawley, Lauren S Krumholz Marchette, Brian C Chu, V Robin Weersing, Samantha R Fordwood
Across 5 decades, hundreds of randomized trials have tested psychological therapies for youth internalizing (anxiety, depression) and externalizing (misconduct, attention deficit and hyperactivity disorder) disorders and problems. Since the last broad-based youth meta-analysis in 1995, the number of trials has almost tripled and data-analytic methods have been refined. We applied these methods to the expanded study pool (447 studies; 30,431 youths), synthesizing 50 years of findings and identifying implications for research and practice...
February 2017: American Psychologist
https://www.readbyqxmd.com/read/28219896/parallel-contagion-phenomenon-of-concordant-mental-disorders-among-married-couples-a-nationwide-cohort-study
#8
Jong-Yi Wang, Ming-Hong Hsieh, Pei-Ching Lin, Chiu-Shong Liu, Jen-De Chen
BACKGROUND: The aggregation of mental disorders in couples, as reported by prior research, indicates the effect of familial environments and warrants attention. However, the concordant categories of mental disorders in couples remain unclear. This study investigated spousal concordance for the category of mental disorders among couples throughout Taiwan by using factors associated with such disorders. METHODS: 5643 couples in the 2002-2013 Taiwan National Health Insurance Research Database were analysed and compared with propensity-matched 5643 non-couples...
February 20, 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/28219153/-social-support-and-occupational-stress-relationship-analysis-of-1-413-train-drivers-in-a-railway-bureau
#9
G Z Gu, S F Yu, W H Zhou, H Wu, L Kang, R Chen
Objective: To investigate the social support status of train drivers. Methods: Using cluster sampling, a cross-sectional study was conducted in 1 413 male train drivers (including 301 passenger train drivers, 683 freight train drivers, 85 guest scheduling train drivers, 265 cargo adjustable drivers, and 79 high-speed train drivers) from a railway bureau depot. The survey included individual factors, social support, occupational stressors, strains, personalities, and coping strategy using occupational stress instruments and effort-reward imbalance questionnaire...
February 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28218802/non-invasive-ventilation-for-cystic-fibrosis
#10
REVIEW
Fidelma Moran, Judy M Bradley, Amanda J Piper
BACKGROUND: Non-invasive ventilation may be a means to temporarily reverse or slow the progression of respiratory failure in cystic fibrosis by providing ventilatory support and avoiding tracheal intubation. Using non-invasive ventilation, in the appropriate situation or individuals, can improve lung mechanics through increasing airflow and gas exchange and decreasing the work of breathing. Non-invasive ventilation thus acts as an external respiratory muscle. This is an update of a previously published review...
February 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28217268/anti-musk-positive-myasthenia-gravis-and-three-semiological-cardinal-signs
#11
André P C Matta, Ana C Andorinho F Ferreira, Arielle Kirmse, Anna Carolina Damm, João Gabriel D I B Farinhas, Mariane D Barbosa, Mayara C M Teles, Camila Fiorelli, Rossano Fiorelli, Osvaldo J M Nascimento, Marco Orsini
Myasthenia gravis (MG) is a relatively uncommon disorder with an annual incidence of approximately 7 to 9 new cases per million. The prevalence is about 70 to 165 per million. The prevalence of the disease has been increasing over the past five decades. This is thought to be due to better recognition of the condition, aging of the population, and the longer life span of affected patients. MG causes weakness, predominantly in bulbar, facial, and extra-ocular muscles, often fluctuating over minutes to weeks, in the absence of wasting, sensory loss, or reflex changes...
November 2, 2016: Neurology International
https://www.readbyqxmd.com/read/28216898/depolarizing-effects-of-daikenchuto-on-interstitial-cells-of-cajal-from-mouse-small-intestine
#12
Hyungwoo Kim, Hyun Jung Kim, Dongki Yang, Myeong Ho Jung, Byung Joo Kim
BACKGROUND: Daikenchuto (DKT; TJ-100, TU-100), a traditional herbal medicineis used in modern medicine to treat gastrointestinal (GI) functional disorders. Interstitial cells of Cajal (ICCs) are the pacemaker cells of the GI tract and play important roles in the regulation of GI motility. OBJECTIVE: The objective of this study was to investigate the effects of DKT on the pacemaker potentials (PPs) of cultured ICCs from murine small intestine. MATERIALS AND METHODS: Enzymatic digestions were used to dissociate ICCs from mouse small intestine tissues...
January 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/28215792/mental-disorder-comorbidity-and-treatment-utilization
#13
Craig Rodriguez-Seijas, Nicholas R Eaton, Malki Stohl, Pia M Mauro, Deborah S Hasin
OBJECTIVE: Effective interventions have been developed for myriad common psychological and substance use disorders, though they remain highly underutilized. Previous research has shown that the likelihood of treatment utilization varies across disorder diagnosis. However, studies that focus on individual disorders have resulted in a large, piecemeal literature that neglects the high rates of multivariate comorbidity. The current study investigated the association between treatment utilization and transdiagnostic comorbidity factors...
February 9, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28214436/impact-of-child-maltreatment-on-meaning-in-life-in-psychiatric-patients
#14
Sébastien Weibel, Sonia Vidal, Emilie Olié, Roland Hasler, Catherine Torriani, Paco Prada, Philippe Courtet, Sébastien Guillaume, Nader Perroud, Philippe Huguelet
Child maltreatment (CM) worsens prognosis and quality of life in several psychiatric conditions. Meaning in life is a construct which relates to the sense of purpose that one can perceive in life, and is a key aspect of recovery in psychiatric patients. The lasting impact of CM on meaning in life and its mediating variables have not been studied in patients with chronic persistent psychiatric conditions. One hundred and sixty-six patients with bipolar disorder (N=35), psychotic disorder (N=73), anorexia nervosa (N=30) or borderline personality disorder (N=28) were assessed for meaning in life (revised version of the Life Regard Index (LRI-R)), for CM (Childhood Trauma Questionnaire (CTQ)) and for internalized/externalized psychopathology...
February 13, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28213340/demographic-and-indication-specific-characteristics-have-limited-association-with-social-network-engagement-evidence-from-24-954-members-of-four-health-care-support-groups
#15
Trevor van Mierlo, Xinlong Li, Douglas Hyatt, Andrew T Ching
BACKGROUND: Digital health social networks (DHSNs) are widespread, and the consensus is that they contribute to wellness by offering social support and knowledge sharing. The success of a DHSN is based on the number of participants and their consistent creation of externalities through the generation of new content. To promote network growth, it would be helpful to identify characteristics of superusers or actors who create value by generating positive network externalities. OBJECTIVE: The aim of the study was to investigate the feasibility of developing predictive models that identify potential superusers in real time...
February 17, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28213124/reciprocal-relationships-between-substance-use-and-disorders-and-suicidal-ideation-and-suicide-attempts-in-the-collaborative-study-of-the-genetics-of-alcoholism
#16
Arpana Agrawal, Rebecca Tillman, Richard A Grucza, Elliot C Nelson, Vivia V McCutcheon, Lauren Few, Kenneth R Conner, Michael T Lynskey, Danielle M Dick, Howard J Edenberg, Victor M Hesselbrock, John R Kramer, Samuel Kuperman, John I Nurnberger, Marc A Schuckit, Bernice Porjesz, Kathleen K Bucholz
BACKGROUND: Substance use and misuse and suicidal thoughts and behaviors tend to co-occur. The purpose of this study was to examine whether (a) suicidal ideation and attempt are related to onset of alcohol, nicotine and cannabis use and dependence; (b) early use of alcohol, nicotine and cannabis is associated with onset of suicidal ideation and attempt; and (c) whether these associations persist while controlling for covariates, such as family history of alcohol problems, major depression and other internalizing and externalizing disorders...
February 3, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28211548/the-33-item-hypomania-checklist-hcl-33-a-study-of-the-consistency-between-self-and-external-assessments-in-polish-bipolar-patients
#17
Dorota Łojko, Dominika Dudek, Jules Angst, Marcin Siwek, Michał Michalak, Janusz Rybakowski
OBJECTIVES: The Hypomania Checklist (HCL) has become an important tool for the assessment of hypomanic symptoms in patients with mood disorders and in the general population. The HCL-33 scale, containing 33 symptom items, is a new instrument which, in addition to the self-administered questionnaire, has a version for external rating. The aim of this study is to evaluate the consistency between the self - and external assessments using the HCL-33 in Polish patients with bipolar disorder...
December 23, 2016: Psychiatria Polska
https://www.readbyqxmd.com/read/28211039/cutaneous-squamous-cell-carcinoma-an-epidemiological-review
#18
REVIEW
A C Green, C M Olsen
Cutaneous squamous cell carcinoma (SCC) is a common cancer in white populations and its disease burden is often substantially underestimated. SCC occurs more often in men than women and increases dramatically with age; those affected often develop multiple primaries over time, which increases the burden. The main external cause is solar ultraviolet radiation (UVR), with immunosuppression being the other established risk factor, shown by the high SCC rates in organ transplant recipients. Sunbed use and certain genetic disorders and medical conditions are also associated with SCC, while associations with human papillomavirus infection and high bodyweight are not established...
February 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28210901/transplantation-of-lineage-negative-stem-cells-in-pterygopalatine-artery-ligation-induced-retinal-ischemia-reperfusion-injury-in-mice
#19
Gillipsie Minhas, Sudesh Prabhakar, Ryuichi Morishita, Munehisa Shimamura, Reema Bansal, Akshay Anand
Retinal ischemia is a condition associated with retinal degenerative diseases such as glaucoma, diabetic retinopathy, and other optic neuropathies, leading to visual impairment and blindness worldwide. Currently, there is no therapy available for ischemic retinopathies. Therefore, the aim of this study was to test a murine model of pterygopalatine artery ligation-induced retinal injury for transplantation of mouse bone marrow-derived lineage-negative (lin-ve) stem cells. The mouse external carotid artery and pterygopalatine artery were ligated for 3...
February 16, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28210827/medical-conditions-and-demographic-service-and-clinical-factors-associated-with-atypical-antipsychotic-medication-use-among-children-with-an-autism-spectrum-disorder
#20
Johanna K Lake, Danica Denton, Yona Lunsky, Amy M Shui, Jeremy Veenstra-VanderWeele, Evdokia Anagnostou
This study aimed to describe rates of antipsychotic medication use and the association between their use and demographics, clinical variables, and the use of behavioral/education services among children with ASD. For children with ASD ages 2-11 (n = 4749) and those 12-17 (n = 401), 5.4 and 17.7% were prescribed at least one atypical antipsychotic medication respectively. In the multivariable model of young children, older age, use of multiple psychotropic medications, prior ASD diagnosis, non-white Hispanic race/ethnicity, and oppositional defiant problems were associated with antipsychotic use...
February 16, 2017: Journal of Autism and Developmental Disorders
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