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https://www.readbyqxmd.com/read/28548707/phenotypes-and-genotypes-in-individuals-with-smc1a-variants
#1
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Alice Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valerie Cormier-Daire, Matthew A Deardorff, Karin Diderich, Mariet Elting, Anthonie van Essen, David Fitz Patrick, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Katta M Girisha, Yvonne Hilhorst-Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Jo Moss, Sarah E Noon, Chris Oliver, Ilaria Parenti, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara L Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C Hennekam
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype...
May 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28548278/neuropeptide-s-precursor-knockout-mice-display-memory-and-arousal-deficits
#2
Xiaobin Liu, Wei Si, Celia Garau, Kay Jüngling, Hans-Christian Pape, Stefan Schulz, Rainer K Reinscheid
Activation of Neuropeptide S (NPS) signaling has been found to produce arousal, wakefulness, anxiolytic-like behaviors and enhanced memory formation. In order to further study physiological functions of the NPS system, we generated NPS precursor knockout mice by homologous recombination in embryonic stem cells. NPS(-/-) mice were viable, fertile, and anatomically normal, when compared to their wildtype and heterozygous littermates. The total number of NPS neurons - although no longer synthesizing the peptide - was not affected by the knockout, as analyzed in NPS(-/-) /NPS(EGFP) double-transgenic mice...
May 26, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28546380/respiratory-implications-of-pediatric-neuromuscular-disease
#3
Howard B Panitch
Children with progressive neuromuscular weakness undergo a stereotypical progression of respiratory involvement, beginning with impaired airway clearance and progressing to nocturnal and then diurnal ventilatory failure. This review examines issues related to airway clearance and mucus mobilization, sleep problems, and use of assisted ventilation in children with neuromuscular diseases. Interventions for each of these problems have been created or adapted for the pediatric population. The use of airway clearance therapies and assisted ventilation have improved survival of children with neuromuscular weakness...
June 2017: Respiratory Care
https://www.readbyqxmd.com/read/28544869/restoring-agency-to-the-human-actor
#4
William B Swann, Jolanda Jetten
A cursory read of the social psychological literature suggests that when people find themselves in strong situations, they fail to display agency. The early classic studies of conformity, obedience, and bystander intervention, for example, are renowned for showing that when challenged by strong situational pressures, participants acquiesced-even if it meant abandoning their moral principles or disregarding their own sensory data. Later studies of learned helplessness, ego depletion, and stereotype threat echoed this "power of the situation" theme, demonstrating that exposure to (or the expectation of) a frustrating or unpleasant experience suppressed subsequent efforts to actualize goals and abilities...
May 2017: Perspectives on Psychological Science: a Journal of the Association for Psychological Science
https://www.readbyqxmd.com/read/28543870/experiencing-stigma-as-a-nurse-with-mental-illness
#5
A L Peterson
WHAT IS KNOWN ON THE SUBJECT?: Stigma involves connecting individuals with a particular label to negative characteristics; this is based not on the stigmatized condition itself, but cultural reactions to it. Stigma exists towards nurses with mental illness. WHAT THIS PAPER ADDS TO EXISTING KNOWLEDGE?: This paper offers a first-person account of experiencing stigma as a nurse with a mental illness. This paper incorporates the existing literature to offer a broader cultural perspective on the experiences of a nurse with a mental illness...
June 2017: Journal of Psychiatric and Mental Health Nursing
https://www.readbyqxmd.com/read/28543376/the-everyday-risk-work-of-dutch-child-healthcare-professionals-inferring-safe-and-good-parenting-through-trust-as-mediated-by-a-lens-of-gender-and-class
#6
Gerlieke Veltkamp, Patrick Brown
Amidst intensifying policy concerns with children's wellbeing and development, healthcare professionals are required not only to assess risk of abuse and neglect, but to manage risk of 'poor parenting' more broadly. Drawing on 15 in-depth interviews and non-participant observations of 61 professional-family interactions, across four preventative public health services for children in the Netherlands, we explored how professionals accomplished such risk work amid intractable uncertainties. Building inferences from brief encounters with families, professionals gauged the extent to which they trusted parents to care 'appropriately'...
May 24, 2017: Sociology of Health & Illness
https://www.readbyqxmd.com/read/28541901/changes-of-shoulder-elbow-and-wrist-stiffness-matrix-post-stroke
#7
Li-Qun Zhang, Jongsang Son, Hyung-Soon Park, Sang Hoon Kang, Yunju Lee, Yupeng Ren
Stroke affects multiple joints in the arm with stereotypical patterns of arm deformity involving the shoulder, elbow, wrist and hand and with disrupted coordination of multiple joints in active movements. However, there is a lack of systematic methods to evaluate multi-joints and multi-degree of freedoms (DOF) neuromechanical changes, especially for complex systems with three or more joints/DOFs involved. This study used a novel systematic method to characterize dynamics and control of the shoulder, elbow and wrist of the human arm individually and simultaneously, including the couplings across the multiple joints during controlled movements...
May 23, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28539993/effectiveness-of-non-pharmacological-interventions-on-stereotyped-and-repetitive-behaviors-of-pre-school-children-with-autism-a-systematic-review
#8
REVIEW
Hadi Zarafshan, Maryam Salmanian, Soudeh Aghamohammadi, Mohammad Reza Mohammadi, Seyed-Ali Mostafavi
INTRODUCTION: The present study aimed to review the literature on non-pharmacological interventions used to treat stereotyped and repetitive behaviors by a systematic method. METHODS: Two authors independently performed a search strategy on Medline/PubMed, Scopus and PsycINFO on English articles published up to April 23, 2014 with relevant search keywords. We also reviewed the bibliographies of retrieved articles and conference proceedings to obtain additional citations and references...
March 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/28538234/overview-of-lung-development-in-the-newborn-human
#9
David Warburton
In human neonates rapid adaptation from an aqueous intrauterine environment to permanent air breathing is the rate-limiting step for extrauterine life, failure of which justifies the existence of neonatal intensive care units. The lung develops at about 4-6 weeks' gestation in humans as a ventral outpouching of the primitive foregut into the surrounding ventral mesenchyme, termed the laryngotracheal groove. At its posterior end lie progenitor cells that form a pair of bronchial tubes, from which arise all the distal epithelial structures of the lung...
2017: Neonatology
https://www.readbyqxmd.com/read/28537757/schizophrenia-in-the-news-the-role-of-news-frames-in-shaping-online-reader-dialogue-about-mental-illness
#10
Anna Rae Gwarjanski, Scott Parrott
A quantitative content analysis examined the portrayal of schizophrenia in eight of the most read online news publications in the United States. The analysis documented the prevalence of stigma frames, which communicate stereotypes concerning schizophrenia, and stigma-challenge frames, which contradict stereotypes, in 558 articles related to schizophrenia. The study also examined the relationship between media framing and reader commentary, including the likelihood of readers posting stigmatizing comments, stigma-challenging comments, and comments in which they disclosed personal experience with mental illness...
May 24, 2017: Health Communication
https://www.readbyqxmd.com/read/28536874/-genetic-findings-in-autism-spectrum-disorders
#11
REVIEW
C M Freitag
Autism spectrum disorders (ASD) are pervasive developmental disorders comprising problems in social interaction, communication, and stereotyped behavior and interests. They show a prevalence of around 0.8% in children, adolescents, and adults, and a skewed sex distribution (about 4:1 = male:female). ASD are predominantly genetically determined disorders. Heritability estimates from twin studies range between 64 and 91%. Recurrence risk in siblings is 20-fold elevated. De novo and inherited monogenetic disorders, mutations, sex chromosomal abnormalities, cytogenetic and imprinting disorders as well as common variants are associated with ASD...
May 23, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28536306/chronic-lymphocytic-leukemia-with-mutated-ighv4-34-receptors-shared-and-distinct-immunogenetic-features-and-clinical-outcomes
#12
Aliki Xochelli, Panagiotis Baliakas, Ioannis Kavakiotis, Andreas Agathangelidis, Lesley-Ann Sutton, Eva Minga, Stavroula Ntoufa, Eugen Tausch, Xiao-Jie Yan, Tait D Shanafelt, Karla Plevova, Myriam Boudjogra, Davide Rossi, Zadie Davis, Alba Navarro, Yorick Sandberg, Fie Juhl Vojdeman, Lydia Scarfò, Niki Stavroyianni, Andrey Sudarikov, Silvio Veronese, Tatiana Tzenou, Teodora Karan Djurasevic, Mark A Catherwood, Dirk Kienle, Maria Chatzouli, Monica Facco, Jasmin Bahlo, Christiane Pott, Lone Bredo Pedersen, Larry Mansouri, Karin E Smedby, Charles C Chu, Véronique Giudicelli, Marie-Paule Lefranc, Panagiotis Panagiotidis, Gunnar Juliusson, Achilles Anagnostopoulos, Ioannis Vlahavas, Darko Antic, Livio Trentin, Marco Montillo, Carsten U Niemann, Hartmut Dohner, Anton W Langerak, Sarka Pospisilova, Michael Hallek, Elias Campo, Nicholas- Chiorazzi, Nikos Maglaveras, David Oscier, Gianluca Gaidano, Diane F Jelinek, Stephan Stilgenbauer, Ioanna Chouvarda, Nikos Darzentas, Chrysoula Belessi, Frédéric Davi, Anastasia Hadzidimitriou, Richard Rosenquist, Paolo Ghia, Kostas Stamatopoulos
We sought to investigate if B cell receptor immunoglobulin (BcR IG) stereotypy is associated with particular clinicobiological features amongst chronic lymphocytic leukemia (CLL) patients expressing mutated BcR IG (M-CLL) encoded by the IGHV4-34 gene, and also ascertain whether these associations could refine prognostication.<br /> <p>Experimental Design: In a series of 19,907 CLL cases with available immunogenetic information, we identified 339 IGHV4-34 expressing cases assigned to one of the four largest stereotyped M-CLL subsets, namely subsets #4, #16, #29 and #201, and investigated in detail their clinicobiological characteristics and disease outcomes...
May 23, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28535368/unfolding-the-folding-problem-of-the-cerebral-cortex-movin-and-groovin
#13
Yasuhiro Itoh, Alexandros Poulopoulos, Jeffrey D Macklis
The development of reproducible folding in the gyrencephalic cerebral cortex is a topic of great interest to neuroscientists. In a recent paper in Cell, del Toro et al. (2017) show that changing the adhesive properties of neurons in the normally lissencephalic mouse cortex leads to the formation of stereotyped folding.
May 22, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28534217/autism-spectrum-disorder-associated-genes-and-the-development-of-dentate-granule-cells
#14
REVIEW
Hidenori Ito, Rika Morishita, Koh-Ichi Nagata
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe clinical symptoms such as the deficiency of the social communication, repetitive and stereotyped behaviors, and restricted interests. Although complex genetic and environmental factors are thought to contribute to the development of ASD, the precise etiologies are largely unknown. Neuroanatomical observations have been made of developmental abnormalities in different brain regions, including dentate gyrus of hippocampus, which is widely accepted as the center for learning and memory...
May 22, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28531176/stigma-of-addiction-and-mental-illness-in-healthcare-the-case-of-patients-experiences-in-dental-settings
#15
Mario A Brondani, Rana Alan, Leeann Donnelly
OBJECTIVE: To explore the ways in which stigma is experienced in healthcare and dental settings by patients with a history of addiction and mental illness. METHODS: Audio-recorded, semi-structured interviews with a purposefully selected convenience sample of residents from two community treatment centres in Vancouver, Canada were conducted. The interview guide contained questions about experiences while seeking health and dental care and was based on an existing framework of labeling, stereotyping, exclusion, discrimination, and power imbalance...
2017: PloS One
https://www.readbyqxmd.com/read/28529364/rape-is-it-a-lifestyle-or-behavioral-problem
#16
Zeel N Kamdar, Jayendrakumar K Kosambiya, Bansari L Chawada, Mamtarani Verma, Abhinav Kadia
INTRODUCTION: In India, girl is raped every 20 min. The majority of reports reveals youth is vulnerable group for rape victimization. A set of prejudicial, stereotyped, or false beliefs about rape, rape victims, and rapist exist in the community. AIMS/OBJECTIVES: To study the attitude and myths toward rape among college going students of Surat City. MATERIALS AND METHODS: College students of various streams were participated in the study based on attitude toward rape scale (21 items) and updated Illinois Rape Myth Acceptance Scale (22 items)...
January 2017: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/28527374/talking-about-sunbed-tanning-social-representations-and-identity-work
#17
Jennifer Taylor, Michael Murray, Alexandra Lamont
RATIONALE: Despite the publicised health risks associated with its usage, sunbed tanning remains popular in many Western countries. Previous research indicates that knowledge of the harmful effects does not necessarily lead to a reduction in sunbed use. OBJECTIVE: The aim of this study was to develop a more extensive social psychological understanding of sunbed use, in the United Kingdom, by exploring the social representations of sunbed tanning held by both those who use and who have never used sunbeds...
May 9, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28527095/-putting-on-my-best-normal-social-camouflaging-in-adults-with-autism-spectrum-conditions
#18
Laura Hull, K V Petrides, Carrie Allison, Paula Smith, Simon Baron-Cohen, Meng-Chuan Lai, William Mandy
Camouflaging of autistic characteristics in social situations is hypothesised as a common social coping strategy for adults with autism spectrum conditions (ASC). Camouflaging may impact diagnosis, quality of life, and long-term outcomes, but little is known about it. This qualitative study examined camouflaging experiences in 92 adults with ASC, with questions focusing on the nature, motivations, and consequences of camouflaging. Thematic analysis was used to identify key elements of camouflaging, which informed development of a three-stage model of the camouflaging process...
May 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28526515/prenatal-lipopolysaccharide-induces-hypothalamic-dopaminergic-hypoactivity-and-autistic-like-behaviors-repetitive-self-grooming-and-stereotypies
#19
Thiago B Kirsten, Maria M Bernardi
Previous investigations by our group have shown that prenatal exposure to lipopolysaccharide (LPS), which mimics infection by gram-negative bacteria, induces social, cognitive, and communication deficits. For a complete screening of autistic-like behaviors, the objective of this study was to evaluate if our rat model also induces restricted and repetitive stereotyped behaviors. Thus, we studied the self-grooming microstructure. We also studied the neurochemistry of hypothalamus and frontal cortex, which are brain areas related to autism to better understand central mechanisms involved in our model...
May 16, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28525544/bistability-causality-and-complexity-in-cortical-networks-an-in-vitro-perturbational-study
#20
Mattia D'Andola, Beatriz Rebollo, Adenauer G Casali, Julia F Weinert, Andrea Pigorini, Rosa Villa, Marcello Massimini, Maria V Sanchez-Vives
Measuring the spatiotemporal complexity of cortical responses to direct perturbations provides a reliable index of the brain's capacity for consciousness in humans under both physiological and pathological conditions. Upon loss of consciousness, the complex pattern of causal interactions observed during wakefulness collapses into a stereotypical slow wave, suggesting that cortical bistability may play a role. Bistability is mainly expressed in the form of slow oscillations, a default pattern of activity that emerges from cortical networks in conditions of functional or anatomical disconnection...
May 19, 2017: Cerebral Cortex
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