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https://www.readbyqxmd.com/read/28209179/the-social-brain-network-in-22q11-2-deletion-syndrome-a-diffusion-tensor-imaging-study
#1
Amy K Olszewski, Zora Kikinis, Christie S Gonzalez, Ioana L Coman, Nikolaos Makris, Xue Gong, Yogesh Rathi, Anni Zhu, Kevin M Antshel, Wanda Fremont, Marek R Kubicki, Sylvain Bouix, Martha E Shenton, Wendy R Kates
BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with a 25-fold increase in schizophrenia. Both individuals with 22q11.2DS and those with schizophrenia present with social cognitive deficits, which are putatively subserved by a network of brain regions that are involved in the processing of social cognitive information. This study used two-tensor tractography to examine the white matter tracts believed to underlie the social brain network in a group of 57 young adults with 22q11...
February 16, 2017: Behavioral and Brain Functions: BBF
https://www.readbyqxmd.com/read/28207948/right-sided-aortic-arch-in-the-age-of-microarray
#2
Edward F O'Mahony, Darren P Hutchinson, George McGillivray, Debbie L Nisbet, Ricardo Palma-Dias
OBJECTIVE: For fetuses with a diagnosis of right aortic arch and normal cardiac anatomy we aimed to establish the frequency of chromosomal anomaly diagnosed with SNP microarray analysis, particularly focusing on microduplications or microdeletions which would have gone undetected by conventional karyotyping and 6 probe fish (13,18,21, X,Y, TUPLE). METHOD: Retrospective study of fetal ultrasounds between 2011 and 2016 in an Australian tertiary referral centre. Outcomes of interest were survival and postnatal surgery for vascular ring...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28204757/subthreshold-psychosis-in-22q11-2-deletion-syndrome-multisite-naturalistic-study
#3
Omri Weisman, Yael Guri, Raquel E Gur, Donna M McDonald-McGinn, Monica E Calkins, Sunny X Tang, Beverly Emanuel, Elaine H Zackai, Stephan Eliez, Maude Schneider, Marie Schaer, Wendy R Kates, Kevin M Antshel, Wanda Fremont, Vandana Shashi, Stephen R Hooper, Marco Armando, Stefano Vicari, Maria Pontillo, Leila Kushan, Maria Jalbrzikowski, Carrie E Bearden, Joseph F Cubells, Opal Y Ousley, Elaine F Walker, Tony J Simon, Joel Stoddard, Tara A Niendam, Marianne B M van den Bree, Doron Gothelf
No abstract text is available yet for this article.
February 13, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28202261/hyperprolinemia-as-a-clue-in-the-diagnosis-of-a-patient-with-psychiatric-manifestations
#4
Marco Duarte, Joana Afonso, Ana Moreira, Diana Antunes, Cristina Ferreira, Hildeberto Correia, Margarida Marques, Sílvia Sequeira
Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment...
February 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28198067/verbal-spatial-iq-discrepancies-impact-brain-activation-associated-with-the-resolution-of-cognitive-conflict-in-children-and-adolescents
#5
Amy E Margolis, Katie S Davis, Lisa S Pao, Amy Lewis, Xiao Yang, Gregory Tau, Guihu Zhao, Zhishun Wang, Rachel Marsh
Verbal-spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non-Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the difference between verbal IQ (VIQ) and performance IQ (PIQ) scores (the VIQ>PIQ discrepancy) is associated with reduced thickness in frontal and parietal cortices (inferior frontal, anterior cingulate, inferior parietal lobule, and supramarginal gyrus) that support cognitive control...
February 15, 2017: Developmental Science
https://www.readbyqxmd.com/read/28198030/confined-placental-mosaicism-for-22q11-2-deletion-as-the-etiology-for-discordant-positive-nipt-results
#6
M Bunnell, C Zhang, C Lee, D W Bianchi, L Wilkins-Haug
22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000-6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11...
February 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28194760/developmental-psychopathology-in-the-post-genomics-era-substantial-challenges-but-reasons-for-hope
#7
EDITORIAL
Jeffrey M Halperin
One only has to quickly look through the Table of Contents for this issue of JCPP to gain an appreciation of the ever-increasing influence of genetic research in the field of developmental psychopathology. Among the 13 articles in this issue that follow this editorial: two employ large family and/or twin studies to provide compelling behavioral genetic findings bolstering the importance of genes in the emergence of ADHD (Chen, Brikell, Lichtenstein, Serlachius, Kuja-Halkola, Sandin, and Larsson) and level of educational achievement in adolescents (Lewis, Asbury, and Plomin); one paper focuses on cortical development in patients with 22q11...
March 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28177551/the-significance-of-a-prenatal-diagnosis-of-right-aortic-arch
#8
Anna Wójtowicz, Maria Respondek-Liberska, Maciej Słodki, Paulina Kordjalik, Joanna Płużańska, Anna Knafel, Hubert Huras
OBJECTIVES: To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). METHODS: Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in 2 referral centers. RESULTS: RAA was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13...
February 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28165153/fetal-right-aortic-arch-associated-anomalies-genetic-anomalies-with-chromosomal-microarray-analysis-and-postnatal-outcome
#9
Ruan Peng, Hong-Ning Xie, Ju Zheng, Yi Zhou, Mei-Fang Lin
OBJECTIVES: To assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA). METHODS: This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. RESULTS: Postnatal data were not available for six cases and genetic data were not available for 26 cases...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28143774/disentangling-resting-state-bold-variability-and-pcc-functional-connectivity-in-22q11-2-deletion-syndrome
#10
Daniela Zöller, Marie Schaer, Elisa Scariati, Maria Carmela Padula, Stephan Eliez, Dimitri Van De Ville
Although often ignored in fMRI studies, moment-to-moment variability of blood oxygenation level dependent (BOLD) signals reveals important information about brain function. Indeed, higher brain signal variability has been associated with better cognitive performance in young adults compared to children and elderly adults. Functional connectivity, a very common approach in resting-state fMRI analysis, is scaled for variance. Thus, alterations might be confounded or driven by BOLD signal variance alterations...
January 29, 2017: NeuroImage
https://www.readbyqxmd.com/read/28139357/morphological-brain-changes-associated-with-negative-symptoms-in-patients-with-22q11-2-deletion-syndrome
#11
Angeline Mihailov, Maria Carmela Padula, Elisa Scariati, Marie Schaer, Maude Schneider, Stephan Eliez
Approximately 30% of individuals with 22q11.2 Deletion Syndrome (22q11DS) develop schizophrenia during adolescence/early adulthood, making this syndrome a model for the disorder. Furthermore, negative symptoms exist in up to 80% of patients diagnosed with 22q11DS. The present study aims to uncover morphological brain alterations associated with negative symptoms in a cohort of patients with 22q11DS who are at-risk for developing schizophrenia. A total of 71 patients with 22q11DS aged 12 to 35 (54% females) with no past or present diagnosis of a schizophrenia were included in the study...
January 27, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28139055/associations-between-neurodevelopmental-genes-neuroanatomy-and-ultra-high-risk-symptoms-of-psychosis-in-22q11-2-deletion-syndrome
#12
Carlie A Thompson, Jason Karelis, Frank A Middleton, Karen Gentile, Ioana L Coman, Petya D Radoeva, Rashi Mehta, Wanda P Fremont, Kevin M Antshel, Stephen V Faraone, Wendy R Kates
22q11.2 deletion syndrome is a neurogenetic disorder resulting in the deletion of over 40 genes. Up to 40% of individuals with 22q11.2DS develop schizophrenia, though little is known about the underlying mechanisms. We hypothesized that allelic variation in functional polymorphisms in seven genes unique to the deleted region would affect lobar brain volumes, which would predict risk for psychosis in youth with 22q11.2DS. Participants included 56 individuals (30 males) with 22q11.2DS. Anatomic MR images were collected and processed using Freesurfer...
January 31, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28127863/signs-of-dysarthria-in-adults-with-22q11-2-deletion-syndrome
#13
Christina Persson, Katja Laakso, Hannah Edwardsson, Johanna Lindblom, Lena Hartelius
The aim of the study was to investigate how adults with 22q11.2 deletion syndrome (22q11DS) performed on dysarthria and intelligibility tests compared with a control group. Ten participants with confirmed 22q11.2 deletion, five males and five females with a mean age of 31 years (range: 19-49), were compared with a control group matched for gender and age (five males and five females, mean age: 32 years, range: 19-49). Assessment of non-verbal and verbal tasks reflecting respiration, phonation, oral motor function, velopharyngeal function, articulation, and prosody was performed as well as the Swedish Test of Intelligibility (STI)...
January 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28121514/genetic-drivers-of-kidney-defects-in-the-digeorge-syndrome
#14
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers, David A Fasel, Katarina Vukojevic, Rong Deng, Silvia E Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S Makar, Monica Bodria, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S Petrey, Barry Honig, Vladimir J Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M McDonald-McGinn, Terrence B Crowley, Elaine H Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L Furth, Bradley A Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P Lifton, Bernice E Morrow, Cecile Jeanpierre, Virginia E Papaioannou, Gian Marco Ghiggeri, Ali G Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi
Background The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. Methods We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies...
25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28119035/autism-spectrum-and-psychosis-risk-in-the-22q11-2-deletion-syndrome-findings-from-a-prospective-longitudinal-study
#15
A M Fiksinski, E J Breetvelt, S N Duijff, A S Bassett, R S Kahn, J A S Vorstman
BACKGROUND: Individuals with 22q11.2 deletion syndrome (22q11DS) have a 25% risk for schizophrenia and related psychotic disorders. Some have hypothesized that Autism Spectrum Disorders (ASDs) diagnosed in children with 22q11DS may actually represent the social-communicative defects often observed during the early developmental stages of schizophrenia. METHODS: We prospectively studied 89 children with 22q11DS to test this hypothesis. At baseline, the Autism Diagnostic Interview was used to assess ASD, evaluating both current and early childhood behaviors...
January 21, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28117515/multimodal-investigation-of-triple-network-connectivity-in-patients-with-22q11ds-and-association-with-executive-functions
#16
Maria C Padula, Marie Schaer, Elisa Scariati, Johanna Maeder, Maude Schneider, Stephan Eliez
Large-scale brain networks play a prominent role in cognitive abilities and their activity is impaired in psychiatric disorders, such as schizophrenia. Patients with 22q11.2 deletion syndrome (22q11DS) are at high risk of developing schizophrenia and present similar cognitive impairments, including executive functions deficits. Thus, 22q11DS represents a model for the study of neural biomarkers associated with schizophrenia. In this study, we investigated structural and functional connectivity within and between the Default Mode (DMN), the Central Executive (CEN), and the Saliency network (SN) in 22q11DS using resting-state fMRI and DTI...
January 24, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28114601/risk-of-psychiatric-disorders-among-individuals-with-the-22q11-2-deletion-or-duplication-a-danish-nationwide-register-based-study
#17
Louise K Hoeffding, Betina B Trabjerg, Line Olsen, Wiktor Mazin, Thomas Sparsø, Anders Vangkilde, Preben B Mortensen, Carsten B Pedersen, Thomas Werge
Importance: Microdeletions and duplications have been described at the 22q11.2 locus. However, little is known about the clinical and epidemiologic consequences at the population level. Objective: To identify indicators of deletions or duplications at the 22q11.2 locus and estimate the incidence rate ratios (IRRs) and absolute risk for psychiatric disorders in clinically identified individuals with 22q11.2 deletion or duplication. Design, Setting, and Participants: A Danish nationwide register study including all individuals recorded in the Danish Cytogenetic Central Register with a 22q11...
January 18, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28114510/understanding-psychiatric-disorders-in-people-with-22q11-2-deletion-and-duplication
#18
James C Harris
No abstract text is available yet for this article.
January 18, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28112057/implication-of-reward-alterations-in-the-expression-of-negative-symptoms-in-22q11-2-deletion-syndrome-a-behavioural-and-dti-study
#19
L Dubourg, M Schneider, M C Padula, L Chambaz, M Schaer, S Eliez
BACKGROUND: Alterations of the reward system have been proposed as one of the core mechanisms underlying the expression of negative symptoms in schizophrenia. Specifically, deficits in specific reward components and white matter (WM) integrity of the reward system have been highlighted. The putative link between negative symptoms and the hedonic experience, or structural connectivity of the reward system has never been examined in the 22q11.2 deletion syndrome (22q11DS), a condition with increased risk for psychosis...
January 23, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28109537/clinical-factors-associated-with-cerebral-metabolism-in-term-neonates-with-congenital-heart-disease
#20
Anna Lonyai Harbison, Jodie K Votava-Smith, Sylvia Del Castillo, S Ram Kumar, Vince Lee, Vincent Schmithorst, Hollie A Lai, Sharon O'Neil, Stefan Bluml, Lisa Paquette, Ashok Panigrahy
OBJECTIVE: To determine associations between patient and clinical factors with postnatal brain metabolism in term neonates with congenital heart disease (CHD) via the use of quantitative magnetic resonance spectroscopy. STUDY DESIGN: Neonates with CHD were enrolled prospectively to undergo pre- and postoperative 3T brain magnetic resonance imaging. Short-echo single-voxel magnetic resonance spectroscopy of parietal white matter was used to quantify metabolites related to brain maturation (n-acetyl aspartate, choline, myo- inositol), neurotransmitters (glutamate and gamma-aminobutyric acid), energy metabolism (glutamine, citrate, glucose, and phosphocreatine), and injury/apoptosis (lactate and lipids)...
January 19, 2017: Journal of Pediatrics
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