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https://www.readbyqxmd.com/read/28445879/cytokine-and-chemokine-profiles-in-patients-with-neuromyelitis-optica-spectrum-disorder
#1
Yuge Wang, Yifan Zhou, Xiaobo Sun, Tingting Lu, Lei Wei, Ling Fang, Chen Chen, Qiao Huang, Xueqiang Hu, Zhengqi Lu, Lisheng Peng, Wei Qiu
OBJECTIVE: To screen cytokines and chemokines and determine their dynamic changes in the serum and cerebrospinal fluid (CSF) of patients with neuromyelitis optica spectrum disorder (NMOSD). METHODS: Eight NMOSD with seropositive aquaporin-4 antibody (AQP4-IgG) were enrolled, as well as 8 matched patients with multiple sclerosis (MS) and 8 with noninflammatory neurological diseases, who were included as controls. In total, 102 cytokines and 34 chemokines were detected in the CSF and serum of NMOSD patients and controls...
April 27, 2017: Neuroimmunomodulation
https://www.readbyqxmd.com/read/28445633/advanced-glycation-end-products-in-recent-onset-psychosis-indicate-early-onset-of-cardiovascular-risk
#2
Julia M Hagen, Arjen L Sutterland, Maarten W Koeter, Rene Lutter, Dan Cohen, Lieuwe de Haan
OBJECTIVE: Profoundly increased mortality rates in schizophrenia, largely caused by a higher risk and earlier onset of cardiovascular disease, remain a major challenge. During the human lifespan, advanced glycation end products (AGEs) accumulate, and their concentration is strongly linked to cardiovascular mortality. AGE accumulation can be accelerated by several pathways, including oxidative stress. METHODS: From March 2015 through January 2016, a case-control study including 111 patients with a recent-onset psychosis, 135 controls from a validation cohort, and 286 healthy controls was performed...
April 25, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28445312/early-progression-of-brain-atrophy-in-patients-with-anti-n-methyl-d-aspartate-receptor-encephalitis-case-reports
#3
Hiroshi Kataoka, Nobuhiro Sawa, Yasuyo Tonomura, Satoshi Ueno
BACKGROUND: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis responds to immunnotherapy, and approximately 80% of patients with this disorder fully recover or have only minor sequelae. Brain magnetic resonance imaging (MRI) does not show a specific abnormality, but some patients have progressive cerebral atrophy. The cerebral atrophy can become reversible after clinical improvement. METHODS: We describe 3 patients with diffuse cerebral atrophy (DCA) on serial brain MRI...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28444906/carbamoyl-phosphate-synthetase-1-deficiency-diagnosed-by-whole-exome-sequencing
#4
Guoqing Zhang, Yulin Chen, Huiqun Ju, Fei Bei, Jing Li, Jian Wang, Jianhua Sun, Jun Bu
BACKGROUND: Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene CPS1. Therefore, the objective of the present study was to investigate the clinical applicability of exome sequencing in molecular diagnosis of CPS1D in Chinese population...
April 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28444556/thalamo-cortical-functional-connectivity-in-schizophrenia-and-bipolar-disorder
#5
Kristina C Skåtun, Tobias Kaufmann, Christine L Brandt, Nhat Trung Doan, Dag Alnæs, Siren Tønnesen, Guido Biele, Anja Vaskinn, Ingrid Melle, Ingrid Agartz, Ole A Andreassen, Lars T Westlye
The thalamus is a highly connected subcortical structure that relays and integrates sensory and cortical information, which is critical for coherent and accurate perceptual awareness and cognition. Thalamic dysfunction is a classical finding in schizophrenia (SZ), and resting-state functional MRI has implicated somatomotor and frontal lobe thalamic dysconnectivity. However, it remains unclear whether these findings generalize to different psychotic disorders, are confined to specific thalamic sub-regions, and how they relate to structural thalamic alterations...
April 25, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28444476/assessing-the-dim-light-melatonin-onset-in-adults-with-autism-spectrum-disorder-and-no-comorbid-intellectual-disability
#6
Emma K Baker, Amanda L Richdale, Agnes Hazi, Luke A Prendergast
This study assessed melatonin levels and the dim light melatonin onset (DLMO) in adults with Autism Spectrum Disorder (ASD) and also investigated the relationships between melatonin and objectively measured sleep parameters. Sixteen adults with ASD (ASD-Only), 12 adults with ASD medicated for comorbid diagnoses of anxiety and/or depression (ASD-Med) and 32 controls participated in the study. Although, the timing of the DLMO did not differ between the two groups, advances and delays of the melatonin rhythm were observed in individual profiles...
April 26, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28442991/a-novel-long-non-coding-rna-durga-modulates-dendrite-density-and-expression-of-kalirin-in-zebrafish
#7
Mayuresh A Sarangdhar, Divya Chaubey, Abhishek Bhatt, Monisha Km, Manish Kumar, Shashi Ranjan, Beena Pillai
Kalirin, a key player in axonal development, nerve growth and synaptic re-modeling, is implicated in many pathological conditions like schizophrenia and autism-spectrum disorders. Alternative promoters and splicing lead to functionally distinct isoforms, but the post-transcriptional regulation of Kalirin has not been studied. Here, we report a novel non-coding RNA, which we name durga, arising from the first exon of kalirin a (kalrna) in the antisense orientation in zebrafish. The kalrna and durga transcripts are barely detectable during early development, but steadily increase by 24 hours post-fertilization (hpf) as the brain develops...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28441041/the-child-network-for-parents-to-track-their-child-s-mood-and-behavior
#8
Robert M Post, Michael Rowe, Dana Kaplan, Robert Findling
INTRODUCTION: A wide range of psychiatric disorders are common in young children, especially in those at high risk because of a parent with a unipolar or bipolar mood disorder in the United States. Yet in part because most children are seen in primary care, these illnesses are often not recognized or treated in a timely fashion. To begin to address this problem, we started the Child Network. METHODS: The Child Network is for parents of children age 2-12 with mood or behavioral symptoms or at high risk for them...
April 25, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28440900/phosphoglycerate-dehydrogenase-phgdh-deficiency-without-epilepsy-mimicking-primary-microcephaly
#9
Antoine Poli, Yoann Vial, Damien Haye, Sandrine Passemard, Manuel Schiff, Hala Nasser, Catherine Delanoe, Emma Cuadro, Rémi Kom, Narcisse Elanga, Anne Favre, Séverine Drunat, Alain Verloes
Phosphoglycerate dehydrogenase (PHGDH) deficiency (OMIM 256520) is a rare autosomal recessive disorder of serine synthesis, with mostly severe congenital microcephaly, caused by mutations in the PHGDH gene. Fourteen patients reported to date show severe, early onset, drug resistant epilepsy. In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in PHGDG was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.5 years. They had severe neurological involvement with congenital microcephaly, disorganized EEG, and progressive spasticity, but never had seizures...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440861/findings-from-the-families-on-track-intervention-pilot-trial-for-children-with-fetal-alcohol-spectrum-disorders-and-their-families
#10
Christie L M Petrenko, Mary E Pandolfino, Luther K Robinson
BACKGROUND: Individuals with fetal alcohol spectrum disorders (FASD) are at high risk for costly, debilitating mental health problems and secondary conditions, such as school disruption, trouble with the law, and substance use. The study objective was to pilot a multi-component intervention designed to prevent secondary conditions in children with FASD and improve family adaptation. METHODS: Thirty children with FASD or prenatal alcohol exposure (PAE) (ages 4 to 8) and their primary caregivers were enrolled...
April 25, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#11
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440047/mental-illness-in-bariatric-surgery-a-cohort-study-from-the-portal-network
#12
David Fisher, Karen J Coleman, David E Arterburn, Heidi Fischer, Ayae Yamamoto, Deborah R Young, Nancy E Sherwood, Connie Mah Trinacty, Kristina H Lewis
OBJECTIVE: To compare bariatric surgery outcomes according to preoperative mental illness category. METHODS: Electronic health record data from several US healthcare systems were used to compare outcomes of four groups of patients who underwent bariatric surgery in 2012 and 2013. These included the following: people with (1) no mental illness, (2) mild-to-moderate depression or anxiety, (3) severe depression or anxiety, and (4) bipolar, psychosis, or schizophrenia spectrum disorders...
May 2017: Obesity
https://www.readbyqxmd.com/read/28439889/prevalence-and-characteristics-of-autism-spectrum-disorders-in-children-with-cerebral-palsy
#13
Malika Delobel-Ayoub, Dana Klapouszczak, Marit Maria Elisabeth van Bakel, Karen Horridge, Solveig Sigurdardottir, Kate Himmelmann, Catherine Arnaud
AIM: To evaluate the prevalence of co-occurring autism spectrum disorders (ASDs) among children with cerebral palsy (CP), and to describe their characteristics. METHOD: The data of 1225 CP cases from four population-based registers (Iceland, Sweden, and two in France) and one population-based surveillance programme (North East England, UK) participating in the Surveillance of Cerebral Palsy in Europe Network (SCPE) were analysed. The ASD diagnoses were systematically recorded using category F84 of the International Classification of Diseases, 10th Revision...
April 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28439605/effectiveness-of-a-preparatory-aid-in-facilitating-oral-assessment-in-a-group-of-saudi-children-with-autism-spectrum-disorders-in-central-saudi-arabia
#14
Ebtissam Z Murshid
To evaluate the effectiveness of a specially-designed dental book (preparatory aid) on the behavior of a group of Autism Spectrum Disorder (ASD) Saudi children during their first dental visit to the College of Dentistry, King Saud University, Riyadh, Saudi Arabia. Methods: A cross-sectional double-blinded pre-and post clinical study consisting of 2 parts; a survey targeting the parents, and a clinical oral examination of their ASD children was conducted between January and June of 2016.  Results: A total of 40 children (75% males and 25% females) with an average age of 6...
May 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28439230/from-anxious-to-reckless-a-control-systems-approach-unifies-prefrontal-limbic-regulation-across-the-spectrum-of-threat-detection
#15
REVIEW
Lilianne R Mujica-Parodi, Jiook Cha, Jonathan Gao
Here we provide an integrative review of basic control circuits, and introduce techniques by which their regulation can be quantitatively measured using human neuroimaging. We illustrate the utility of the control systems approach using four human neuroimaging threat detection studies (N = 226), to which we applied circuit-wide analyses in order to identify the key mechanism underlying individual variation. In so doing, we build upon the canonical prefrontal-limbic control system to integrate circuit-wide influence from the inferior frontal gyrus (IFG)...
2017: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/28439197/clinical-and-polysomnographic-features-of-children-evaluated-with-polysomnography-in-pediatric-sleep-laboratory
#16
Hatice Ezgi Barış, Yasemin Gökdemir, Ela Erdem Eralp, Nilay Baş İkizoğlu, Fazilet Karakoç, Bülent Karadağ, Refika Ersu
AIM: Sleep disordered breathing is a common problem in childhood that encompasses a spectrum of disorders extending from primary snoring to obstructive sleep apnea. This study aims to investigate the results of children undergoing evaluation with polysomnography in the sleep laboratory of a tertiary care hospital. MATERIAL AND METHODS: Demographic and clinical features as well as sleep associated symptoms, scores of pediatric sleep questionnaire and Pittsburgh sleep quality index and polysomnography results are retrospectively evaluated...
March 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28439105/autism-spectrum-disorders-a-meta-analysis-of-executive-function
#17
E A Demetriou, A Lampit, D S Quintana, S L Naismith, Y J C Song, J E Pye, I Hickie, A J Guastella
Evidence of executive dysfunction in autism spectrum disorders (ASD) across development remains mixed and establishing its role is critical for guiding diagnosis and intervention. The primary objectives of this meta-analysis is to analyse executive function (EF) performance in ASD, the fractionation across EF subdomains, the clinical utility of EF measures and the influence of multiple moderators (for example, age, gender, diagnosis, measure characteristics). The Embase, Medline and PsychINFO databases were searched to identify peer-reviewed studies published since the inclusion of Autism in DSM-III (1980) up to end of June 2016 that compared EF in ASD with neurotypical controls...
April 25, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28439102/mecp2-regulated-mirnas-control-early-human-neurogenesis-through-differential-effects-on-erk-and-akt-signaling
#18
N Mellios, D A Feldman, S D Sheridan, J P K Ip, S Kwok, S K Amoah, B Rosen, B A Rodriguez, B Crawford, R Swaminathan, S Chou, Y Li, M Ziats, C Ernst, R Jaenisch, S J Haggarty, M Sur
Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a multifunctional epigenetic regulator with known links to a wide spectrum of neuropsychiatric disorders. Although postnatal functions of MeCP2 have been thoroughly investigated, its role in prenatal brain development remains poorly understood. Given the well-established importance of microRNAs (miRNAs) in neurogenesis, we employed isogenic human RTT patient-derived induced pluripotent stem cell (iPSC) and MeCP2 short hairpin RNA knockdown approaches to identify novel MeCP2-regulated miRNAs enriched during early human neuronal development...
April 25, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28438881/prevalence-of-congenital-cytomegalovirus-infection-assessed-through-viral-genome-detection-in-dried-blood-spots-in-children-with-autism-spectrum-disorders
#19
Ivan Gentile, Emanuela Zappulo, Maria Pia Riccio, Sandro Binda, Laura Bubba, Laura Pellegrinelli, Domenico Scognamiglio, Francesca Operto, Lucia Margari, Guglielmo Borgia, Carmela Bravaccio
BACKGROUND/AIM: Autism spectrum disorders (ASD) are neurodevelopmental disorders without a definitive etiology in most cases. Environmental factors, such as viral infections, have been linked with anomalies in brain growth, neuronal development, and functional connectivity. Congenital cytomegalovirus (CMV) infection has been associated with the onset of ASD in several case reports. The aim of this study was to evaluate the prevalence of congenital CMV infection in children with ASD and in healthy controls...
May 2017: In Vivo
https://www.readbyqxmd.com/read/28438876/thrombotic-microangiopathy-following-chemotherapy-with-s-1-and-cisplatin-in-a-patient-with-gastric-cancer-a-case-report
#20
Jun Muto, Hiroshi Kishimoto, Yasuo Kaizuka, Mitsuru Kinjo, Hidefumi Higashi, Fumiaki Kishihara
BACKGROUND: Thrombotic microangiopathy (TMA) represents a spectrum of serious disorders characterized by occlusive microvascular thrombosis, thrombocytopenia and end-organ damage. TMA is associated with a broad range of conditions and is also a well-described complication of both cancer and its treatment. CASE REPORT: A 77-year-old Japanese woman underwent S-1 and cisplatin chemotherapy for treatment of advanced gastric cancer with multiple lymph node and liver metastases...
May 2017: In Vivo
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