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Spectrum Disorder

Deng-Wei Chou, Shu-Ling Wu, Kuo-Mou Chung, Shu-Chen Han, Bruno Man-Hon Cheung
OBJECTIVES: Septic pulmonary embolism is an uncommon but life-threatening disorder. However, data on patients with septic pulmonary embolism who require critical care have not been well reported. This study elucidated the clinicoradiological spectrum, causative pathogens and outcomes of septic pulmonary embolism in patients requiring critical care. METHODS: The electronic medical records of 20 patients with septic pulmonary embolism who required intensive care unit admission between January 2005 and December 2013 were reviewed...
October 1, 2016: Clinics
Amir A Afkhami
The world is currently in the midst of the largest refugee crisis since World War II, with the highest interval of mass displacement in recorded history according to the United Nations. The United States has pledged to maintain its position as one of the world's top resettlement countries in response to this crisis. These new immigrants will arrive with exceptional chronic and acute medical needs, including higher rates of behavioral health disorders. The author describes the health care challenges experienced by refugees seeking asylum in the United States and outlines the ways in which our health care system is currently deficient in helping refugee patients to overcome these challenges...
October 18, 2016: Academic Medicine: Journal of the Association of American Medical Colleges
David B Nicholas, Sandra Hodgetts, Lonnie Zwaigenbaum, Leann E Smith, Paul Shattuck, Jeremy R Parr, Olivia Conlon, Tamara Germani, Wendy Mitchell, Lori Sacrey, Margot E Stothers
Research related to supports for adults with autism spectrum disorder (ASD) is under-developed. As an example, system and service development to support successful transition to adulthood and meaningful vocation for adults has received relatively little research scrutiny until recently, with practitioners and program developers lacking evidence-informed approaches guiding service delivery. A Special Interest Group (SIG) was convened at the International Meeting for Autism Research in May 2014 and May 2015, with a focus on transitional and vocational issues in ASD...
October 17, 2016: Autism Research: Official Journal of the International Society for Autism Research
Priyanka Srivastava, Himani Pandey, Divya Agarwal, Kausik Mandal, Shubha R Phadke
We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene. CHST3 gene encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1) which mediates the sulfation of proteoglycans, (chondroitin sulfate), in the extracellular matrix of cartilage. CHST3 gene was sequenced in probands from three different families with SED. In two families missense mutations (c.904G>C predicting the substitution D302H) and c...
October 18, 2016: American Journal of Medical Genetics. Part A
Anat Levin, Anat Scher
INTRODUCTION: Disrupted sleep is common among children with autism spectrum disorder (ASD). AIMS: Our goal was to (1) examine the contribution of sleep problems to parenting stress in children with ASD as compared to typically developing (TD) and (2) to address maternal sleep-related cognitions and behaviors in both groups. METHODS: Mothers of 34 ASD (mean age = 39.29 months, SD = 5.22) and 31 TD children (mean age = 36.23 months, SD = 5.75) completed questionnaires measuring maternal stress, sleep-related cognitions and settling to sleep interactions, and the child's sleep problems; mothers in the ASD group completed a symptom severity questionnaire...
October 17, 2016: CNS Neuroscience & Therapeutics
Sanjay Prakash, Chaturbhuj Rathore
BACKGROUND: Trigeminal neuralgia (TN) has been described in association with various primary headache disorders. So far, no case of TN has been reported in association with hemicrania continua (HC). CASE REPORT: Here, we report two patients of hemicrania continua associated with TN (HC-tic syndrome). These patients had both headaches concurrently. Both patients responded to a combination of carbamazepine and indomethacin. The skipping or tapering of carbamazepine led to the recurrence of the neuralgic pain of TN...
October 18, 2016: Headache
Joel Wells, Jeffrey J Nepple, Karla Crook, James R Ross, Asheesh Bedi, Perry Schoenecker, John C Clohisy
BACKGROUND: Hip dysplasia represents a spectrum of complex deformities on both sides of the joint. Although many studies have described the acetabular side of the deformity, to our knowledge, little is known about the three-dimensional (3-D) head and neck offset differences of the femora of dysplastic hips. A thorough knowledge of proximal femoral anatomy is important to prevent potential impingement and improve results after acetabular reorientation. QUESTIONS/PURPOSES: (1) Are there common proximal femoral characteristics in patients with symptomatic hip dysplasia undergoing periacetabular osteotomy (PAO)? (2) Where is the location of maximal femoral head and neck offset deformity in hip dysplasia? (3) Do certain subgroups of dysplastic hips more commonly have cam-type femoral morphology? (4) Is there a relationship between hip ROM as well as impingement testing and 3-D head and neck offset deformity? METHODS: Using our hip preservation database, 153 hips (148 patients) underwent PAO from October 2013 to July 2015...
October 17, 2016: Clinical Orthopaedics and related Research
Shiny Thomas, Mary E Hovinga, Dheeraj Rai, Brian K Lee
Epilepsy is reported to co-occur in individuals with autism spectrum disorder (ASD). Previous studies across the world have found prevalence estimates ranging from 4 to 38 %. We examined parent-reported prevalence of co-occurring epilepsy and ASD in the most recent U.S. National Survey of Children's Health, 2011-2012. All analyses accounted for survey weights to account for the complex sampling design. In the overall analytic sample of 85,248 children ages 2-17, there were 1604 children with ASD (prevalence of 1...
October 17, 2016: Journal of Autism and Developmental Disorders
Laurent Caplette, Bruno Wicker, Frédéric Gosselin
In neurotypical observers, it is widely believed that the visual system samples the world in a coarse-to-fine fashion. Past studies on Autism Spectrum Disorder (ASD) have identified atypical responses to fine visual information but did not investigate the time course of the sampling of information at different levels of granularity (i.e. Spatial Frequencies, SF). Here, we examined this question during an object recognition task in ASD and neurotypical observers using a novel experimental paradigm. Our results confirm and characterize with unprecedented precision a coarse-to-fine sampling of SF information in neurotypical observers...
October 18, 2016: Scientific Reports
R E Frye, J Slattery, L Delhey, B Furgerson, T Strickland, M Tippett, A Sailey, R Wynne, S Rose, S Melnyk, S Jill James, J M Sequeira, E V Quadros
We sought to determine whether high-dose folinic acid improves verbal communication in children with non-syndromic autism spectrum disorder (ASD) and language impairment in a double-blind placebo control setting. Forty-eight children (mean age 7 years 4  months; 82% male) with ASD and language impairment were randomized to receive 12 weeks of high-dose folinic acid (2 mg kg(-1) per day, maximum 50 mg per day; n=23) or placebo (n=25). Children were subtyped by glutathione and folate receptor-α autoantibody (FRAA) status...
October 18, 2016: Molecular Psychiatry
Erika Yeh, Lauren A Weiss
Autism spectrum disorder (ASD) has been long known to have substantial genetic etiology. Much research has attempted to identify specific genes contributing to ASD risk with the goal of tying gene function to a molecular pathological explanation for ASD. A unifying molecular pathology would potentially increase understanding of what is going wrong during development, and could lead to diagnostic biomarkers or targeted preventative or therapeutic directions. We review past and current genetic mapping approaches and discuss major results, leading to the hypothesis that global dysregulation of gene or protein expression may be implicated in ASD rather than disturbance of brain-specific functions...
October 14, 2016: Molecular and Cellular Probes
Mohammad Reza Safari, Soudeh Ghafouri-Fard, Rezvan Noroozi, Arezou Sayad, Mir Davood Omrani, Alireza Komaki, Mohammad Mahdi Eftekharian, Mohammad Taheri
Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls...
October 14, 2016: Gene
Giacomo Vivanti, Heather J Nuskec
We explore three challenges that Autism Spectrum Disorder (ASD) poses to our understanding of the processes underlying early attachment. First, while caregiver-infant attachment and later social-affiliative behavior share common biobehavioral mechanisms, individuals with ASD are able to form secure attachment relationships, despite reduced social-emotional reciprocity and motivation for social interaction. Therefore, disruptions in social affiliation mechanisms can co-exist with secure caregiver-infant bonding...
October 14, 2016: Behavioural Brain Research
Cath Rogers, Laurence Lepherd, Rahul Ganguly, Sebastian Jacob-Rogers
PROBLEM: Autistic Spectrum Disorder (ASD) is an increasingly commonly diagnosed disability. People with ASD commonly report challenges in social interaction and a heightened sensory perception. These challenges may be particularly difficult for women during pregnancy, birthing and beyond. BACKGROUND: Very little is known about the experiences and needs of birthing women who have ASD. There is a large body of literature about women who have autistic children, but almost nothing about women who may have this disability themselves...
October 14, 2016: Women and Birth: Journal of the Australian College of Midwives
Katherine K M Stavropoulos, Michaela Viktorinova, Adam Naples, Jennifer Foss-Feig, James C McPartland
BACKGROUND: Difficulty with emotion perception is a core feature of autism spectrum disorder (ASD) that is also associated with the broader autism phenotype. OBJECTIVES: The current study explored the neural underpinnings of conscious and non-conscious perceptions of affect in typically developing individuals with varying levels of autistic-like traits, as measured by the Autism Quotient (AQ). We investigated the relationship between autistic traits and face processing efficiency using event-related potentials (ERPs)...
October 18, 2016: Social Neuroscience
Felix Inchausti, Javier Ortuño-Sierra, Nancy V García-Poveda, Alejandro Ballesteros-Prados
BACKGROUND: The term metacognition reflects a spectrum of psychological activities that allows people to form and integrate representations about their own mental states and those of others. The main goal of this study was to examine whether people with substance abuse disorders (SUDs), and treated in therapeutic community regime, displayed specific patterns of metacognitive deficits on Self-reflectivity, Understanding others’ mind, Decentration, and Mastery, comparing their scores with two clinical groups of patients with schizophrenia spectrum disorders (SSDs) and anxiety disorders...
September 29, 2016: Adicciones
Hyewon Chung, Suk Ho Byeon, K Bailey Freund
PURPOSE: To review the literature regarding focal choroidal excavation and show its association with pachychoroid features through case examples. METHODS: The clinical manifestations of focal choroidal excavation are illustrated with various imaging modalities inclusive of fundus photography, fundus autofluorescence, fluorescein angiography, indocyanine green angiography, spectral domain optical coherence tomography (OCT), enhanced depth imaging OCT, and swept-source OCT...
October 4, 2016: Retina
Eduardo Fonseca-Pedrero, Alex Cohen, Javier Ortuño-Sierra, Alicia Pérez de Álbeniz, José Muñiz
The main goal of the present study was to test the measurement equivalence of the Schizotypal Personality Questionnaire - Brief Revised (SPQ-BR) scores in a large sample of Spanish and American non-clinical young adults. The sample was made up of 5,625 young adults (M = 19.65 years; SD = 2.53; 38.5% males). Study of the internal structure, using confirmatory factor analysis (CFA), revealed that SPQ-BR items were grouped in a theoretical internal structure of nine first-order factors. Moreover, three or four second-order factor and bifactor models showed adequate goodness-of-fit indices...
October 17, 2016: Journal of Personality Disorders
Xiao-Jun Chen, Hong Zhang, Zhi-Ping Tan, Wen Hu, Yi-Feng Yang
Multiple osteochondromas (MO), also known as hereditary multiple exostoses, is an autosomal dominant bone disorder. Mutations in exostosin glycosyl transferase‑1 (EXT1) and exostosin glycosyl transferase‑2 (EXT2), including missense, nonsense, frameshift and splice‑site mutations, account for up to 80% of reported cases. The proteins EXT1 and EXT2 form a hetero‑oligomeric complex that functions in heparan sulfate proteoglycan biosynthesis. A heterozygous EXT2 mutation, c.939+1G>T, was identified in a five‑generation 33‑member MO family, and was present in all 13 affected members...
October 6, 2016: Molecular Medicine Reports
E Rizos, N Siafakas, E Skourti, C Papageorgiou, J Tsoporis, T H Parker, D I Christodoulou, D A Spandidos, E Katsantoni, V Zoumpourlis
Schizophrenia (SZ) and cancer (Ca) have a broad spectrum of clinical phenotypes and a complex biological background, implicating a large number of genetic and epigenetic factors. SZ is a chronic neurodevelopmental disorder signified by an increase in the expression of apoptotic molecular signals, whereas Ca is conversely characterized by an increase in appropriate molecular signaling that stimulates uncontrolled cell proliferation. The rather low risk of developing Ca in patients suffering from SZ is a hypothesis that is still under debate...
October 14, 2016: Molecular Medicine Reports
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