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https://www.readbyqxmd.com/read/28731410/infectious-and-noninfectious-pulmonary-complications-in-patients-with-primary-immunodeficiency-disorders
#1
REVIEW
R Yazdani, H Abolhassani, M Asgardoon, M Shaghaghi, M Modaresi, G Azizi, A Aghamohammadi
Primary immunodeficiency disorders (PIDs) are caused by 1 or more defects of the immune system. Patients are more likely to experience recurrent and/or severe infections and tend to develop a wide range of complications. Respiratory diseases are the main and initial manifestation in most cases and the most common complication. Pulmonary complications cause significant morbidity and mortality in patients with PIDs. Early diagnosis and appropriate treatment can prevent or at least slow the development of respiratory complications...
2017: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#2
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28730847/guidelines-for-the-assessment-and-diagnosis-of-patients-with-schizophrenia-spectrum-and-other-psychotic-disorders
#3
Donald Addington, Sabina Abidi, Iliana Garcia-Ortega, William G Honer, Zahinoor Ismail
OBJECTIVE: The objective of this article is to identify best practices in the diagnosis and assessment of patients with schizophrenia spectrum and other psychotic disorders. The diagnosis and assessment may occur in a range of situations from the emergency room to the outpatient clinic and at different stages of the disorder. The focus may be on acute exacerbations of illness, residual symptoms, levels of function, or changes in the response to treatment. METHODS: A systematic search was conducted for guidelines published in the last 5 years for schizophrenia and schizophrenia spectrum disorders...
January 1, 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/28730732/shared-atypical-default-mode-and-salience-network-functional-connectivity-between-autism-and-schizophrenia
#4
Heng Chen, Lucina Q Uddin, Xujun Duan, Junjie Zheng, Zhiliang Long, Youxue Zhang, Xiaonan Guo, Yan Zhang, Jingping Zhao, Huafu Chen
Schizophrenia and autism spectrum disorder (ASD) are two prevalent neurodevelopmental disorders sharing some similar genetic basis and clinical features. The extent to which they share common neural substrates remains unclear. Resting-state fMRI data were collected from 35 drug-naïve adolescent participants with first-episode schizophrenia (15.6 ± 1.8 years old) and 31 healthy controls (15.4 ± 1.6 years old). Data from 22 participants with ASD (13.1 ± 3.1 years old) and 21 healthy controls (12...
July 21, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28730417/patterns-of-age-related-cognitive-differences-in-adults-with-autism-spectrum-disorder
#5
Patrick S Powell, Laura G Klinger, Mark R Klinger
Little is known about age-related cognitive differences in autism spectrum disorder (ASD). However, given the overlap in cognitive impairments in ASD to those seen in typical aging, it is possible that adults with ASD will face even greater cognitive difficulties as they age. The current study used a cross-sectional design to examine age-related cognitive differences in adults with ASD and age and IQ-matched adults with typical development (age range 30-67 years). Results indicated that both age and diagnosis were related to poorer cognitive performance...
July 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28730416/quality-of-life-coping-styles-stress-levels-and-time-use-in-mothers-of-children-with-autism-spectrum-disorders-comparing-single-versus-coupled-households
#6
Tomomi McAuliffe, Reinie Cordier, Sharmila Vaz, Yvonne Thomas, Torbjorn Falkmer
This study aimed to examine the influence of differences in household status on the parental stress, coping, time use and quality of life (QoL) among mothers of children with autism spectrum disorders. Forty-three single and 164 coupled mothers completed the survey. Data were analysed using multivariate logistic regression. We found that single mothers were 1.05 times more likely to report lower levels of environmental QoL. Whilst they were 1.73 times more likely to use acceptance coping style, this association did not persist after adjusting for total number of children, household income and employment status...
July 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28730336/serologic-markers-of-autism-spectrum-disorder
#7
REVIEW
T V Khramova, Anna L Kaysheva, Y D Ivanov, T O Pleshakova, I Y Iourov, S G Vorsanova, Y B Yurov, A A Schetkin, A I Archakov
According to WHO data, about 67 million people worldwide are affected by autism, and this number grows by 14% annually. Among the possible causes of autism are genetic modifications, organic lesions of the central nervous system, metabolic disorders, influence of viral and bacterial infections, chemical influence to the mother's body during pregnancy, etc. The conducted research shows that research papers published until today do not name any potential protein markers that meet the requirements of the basic parameters for evaluating the efficiency of disease diagnostics, in particular high sensitivity, specificity, and accuracy...
July 20, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28730243/a-52-year-old-man-with-gouty-arthritis-and-erosive-lesion-in-the-hip
#8
Vitorino Modesto Dos Santos, Viviane Vieira Passini Soares, Priscilla Souza de Faria, Francisca Germanya Morais Borges Viana, Mayza Lemes Duarte
The case study of peripheral and axial gouty arthritis is described in a 52-year-old man without concomitant clinical evidence of tophaceus gout on physical evaluation on admission. Gout is a metabolic disorder related to excess of uric acid in the extracellular compartment, and deposition of monosodium urate crystals in the joints and other sites. Arthritis and tophi are major manifestations, which more often involve the peripheral joints asymmetrically. Chronic tophaceous gout commonly develops after a decade of recurrent polyarticular gout...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730136/early-diagnosis-of-abcb11-spectrum-liver-disorders-by-next-generation-sequencing
#9
Su Jeong Lee, Jung Eun Kim, Byung-Ho Choe, An Na Seo, Han-Ik Bae, Su-Kyeong Hwang
PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28729424/molecular-determinants-of-acidic-ph-dependent-transport-of-human-equilibrative-nucleoside-transporter-3
#10
Md Fazlur Rahman, Candice Askwith, Rajgopal Govindarajan
Equilibrative nucleoside transporters (ENTs) translocate hydrophilic nucleosides across cellular membranes and are essential for salvage nucleotide synthesis and purinergic signaling. Unlike the prototypic human ENT members hENT1 and hENT2, which mediate plasma membrane nucleoside transport at pH 7.4, hENT3 is an acidic pH-activated lysosomal transporter partially localized to mitochondria. Recent studies demonstrate that hENT3 is indispensable for lysosomal homeostasis, and that mutations in hENT3 can result in a spectrum of lysosomal storage-like disorders...
July 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28728774/utilizing-virtual-reality-and-immersion-video-technology-as-a-focused-learning-tool-for-children-with-autism-spectrum-disorder
#11
Pelagia Papathomas, Karen Goldschmidt
No abstract text is available yet for this article.
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28728761/predictors-of-co-occurring-neurodevelopmental-disabilities-in-children-with-autism-spectrum-disorders
#12
Lauren Head Zauche, Ashley E Darcy Mahoney, Melinda K Higgins
PURPOSE: Co-occurring neurodevelopmental disabilities (including cognitive and language delays and attention deficit hyperactivity disorder) affect over half of children with ASD and may affect later behavioral, language, and cognitive outcomes beyond the ASD diagnosis. However, no studies have examined predictors of co-occurring neurodevelopmental disabilities in children with ASD. This study investigated whether maternal sociodemographic, perinatal and neonatal factors are associated with co-occurring disabilities...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28727687/hippocampus-dependent-memory-and-allele-specific-gene-expression-in-adult-offspring-of-alcohol-consuming-dams-after-neonatal-treatment-with-thyroxin-or-metformin
#13
E Tunc-Ozcan, S L Wert, P H Lim, A Ferreira, E E Redei
Fetal alcohol spectrum disorder (FASD), the result of fetal alcohol exposure (FAE), affects 2-11% of children worldwide, with no effective treatments. Hippocampus-based learning and memory deficits are key symptoms of FASD. Our previous studies show hypothyroxinemia and hyperglycemia of the alcohol-consuming pregnant rat, which likely affects fetal neurodevelopment. We administered vehicle, thyroxine (T4) or metformin to neonatal rats post FAE and rats were tested in the hippocampus-dependent contextual fear-conditioning paradigm in adulthood...
July 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28727509/music-and-on-task-behaviors-in-preschool-children-with-autism-spectrum-disorder
#14
Shannon Titus Dieringer, David L Porretta, Diane Sainato
The purpose of our study was to determine the effect of music (music with lyrics versus music with lyrics plus instruction) relative to on-task behaviors in preschool children with autism spectrum disorder (ASD) in a gross motor setting. Five preschool children (4 boys, 1 girl) diagnosed with ASD served as participants. A multiple baseline across participants in conjunction with an alternating-treatment design was used. For all participants, music with lyrics plus instruction increased on-task behaviors to a greater extent than did music with lyrics...
July 2017: Adapted Physical Activity Quarterly: APAQ
https://www.readbyqxmd.com/read/28727482/atypical-preference-for-infant-directed-speech-as-an-early-marker-of-autism-spectrum-disorders-a-literature-review-and-directions-for-further-research
#15
Marisa G Filipe, Linda Watson, Selene G Vicente, Sónia Frota
Autism spectrum disorders (ASD) refer to a complex group of neurodevelopmental disorders causing difficulties with communication and interpersonal relationships, as well as restricted and repetitive behaviours and interests. As early identification, diagnosis, and intervention provide better long-term outcomes, early markers of ASD have gained increased research attention. This review examines evidence that auditory processing enhanced by social interest, in particular auditory preference of speech directed towards infants and young children (i...
July 20, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28726807/when-genotype-is-not-predictive-of-phenotype-implications-for-genetic-counseling-based-on-21-594-chromosomal-microarray-analysis-examinations
#16
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger, Lina Basel-Salmon, Mordechai Shohat
PurposeTo compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.MethodsTwo cohorts were categorized according to chromosomal microarray analysis (CMA) indication: group I, low-risk prenatal-women with uneventful pregnancy (control group); group II, high-risk prenatal-women whose fetuses had congenital malformations; and group III, postnatal-individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, or multiple congenital anomalies...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726442/ptsd-and-autism-spectrum-disorder-co-morbidity-gaps-in-research-and-potential-shared-mechanisms
#17
Nirit Haruvi-Lamdan, Danny Horesh, Ofer Golan
BACKGROUND: While autism and trauma were often linked in psychoanalytic theory, very few scientific attempts have been made to explore the associations and comorbidity between the two. Instead, each area has grown separately, yielding large bodies of theoretical and clinical knowledge. THEORETICAL FRAMEWORK: In this article, we suggest several possible pathways that may link trauma and autism. First, autism spectrum disorder (ASD) may serve as a vulnerability marker for posttraumatic stress disorder (PTSD), specifically by increasing the risk for exposure to traumatic events...
July 20, 2017: Psychological Trauma: Theory, Research, Practice and Policy
https://www.readbyqxmd.com/read/28725551/cervical-cord-myelin-water-imaging-shows-degenerative-changes-over-one-year-in-multiple-sclerosis-but-not-neuromyelitis-optica-spectrum-disorder
#18
Anna J E Combes, Lucy Matthews, Jimmy S Lee, David K B Li, Robert Carruthers, Anthony L Traboulsee, Gareth J Barker, Jacqueline Palace, Shannon Kolind
Spinal cord pathology is a feature of both neuromyelitis optica spectrum disorder (NMOSD) and relapsing-remitting multiple sclerosis (MS). While subclinical disease activity has been described in MS using quantitative magnetic resonance imaging measures, current evidence suggests that neurodegeneration is absent between relapses in NMOSD, although most evidence comes from brain studies. We aimed to assess cross-sectional differences and longitudinal changes in myelin integrity in relapse-free MS and NMOSD subjects over one year...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28725190/reliability-of-eeg-interactions-differs-between-measures-and-is-specific-for-neurological-diseases
#19
Yvonne Höller, Kevin Butz, Aljoscha Thomschewski, Elisabeth Schmid, Andreas Uhl, Arne C Bathke, Georg Zimmermann, Santino O Tomasi, Raffaele Nardone, Wolfgang Staffen, Peter Höller, Markus Leitinger, Julia Höfler, Gudrun Kalss, Alexandra C Taylor, Giorgi Kuchukhidze, Eugen Trinka
Alterations of interaction (connectivity) of the EEG reflect pathological processes in patients with neurologic disorders. Nevertheless, it is questionable whether these patterns are reliable over time in different measures of interaction and whether this reliability of the measures is the same across different patient populations. In order to address this topic we examined 22 patients with mild cognitive impairment, five patients with subjective cognitive complaints, six patients with right-lateralized temporal lobe epilepsy, seven patients with left lateralized temporal lobe epilepsy, and 20 healthy controls...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28725025/an-atypical-case-of-spg56-cyp2u1-related-spastic-paraplegia-presenting-with-delayed-myelination
#20
Gaku Minase, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Toshinobu Miyamoto, Kazuo Sengoku, Naomichi Matsumoto
Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging...
July 20, 2017: Journal of Human Genetics
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