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https://www.readbyqxmd.com/read/28803847/psychotic-symptoms-influence-the-development-of-anterior-cingulate-bold-variability-in-22q11-2-deletion-syndrome
#1
Daniela Zöller, Maria Carmela Padula, Corrado Sandini, Maude Schneider, Elisa Scariati, Dimitri Van De Ville, Marie Schaer, Stephan Eliez
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental disorder associated with a broad phenotype of clinical, cognitive and psychiatric features. Due to the very high prevalence of schizophrenia (30-40%), the investigation of psychotic symptoms in the syndrome is promising to reveal biomarkers for the development of psychosis, also in the general population. Since schizophrenia is seen as a disorder of the dynamic interactions between brain networks, we here investigated brain dynamics, assessed by the variability of blood oxygenation level dependent (BOLD) signals, in patients with psychotic symptoms...
August 10, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28798405/progress-in-genome-wide-association-studies-of-schizophrenia-in-han-chinese-populations
#2
REVIEW
Weihua Yue, Xin Yu, Dai Zhang
Since 2006, genome-wide association studies of schizophrenia have led to the identification of numerous novel risk loci for this disease. However, there remains a geographical imbalance in genome-wide association studies, which to date have primarily focused on Western populations. During the last 6 years, genome-wide association studies in Han Chinese populations have identified both the sharing of susceptible loci across ethnicities and genes unique to Han Chinese populations. Here, we review recent progress in genome-wide association studies of schizophrenia in Han Chinese populations...
August 10, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28794975/altered-structural-network-architecture-is-predictive-of-the-presence-of-psychotic-symptoms-in-patients-with-22q11-2-deletion-syndrome
#3
Maria C Padula, Elisa Scariati, Marie Schaer, Corrado Sandini, Marie Christine Ottet, Maude Schneider, Dimitri Van De Ville, Stephan Eliez
22q11.2 deletion syndrome (22q11DS) represents a homogeneous model of schizophrenia particularly suitable for the search of neural biomarkers of psychosis. Impairments in structural connectivity related to the presence of psychotic symptoms have been reported in patients with 22q11DS. However, the relationships between connectivity changes in patients with different symptomatic profiles are still largely unknown and warrant further investigations. In this study, we used structural connectivity to discriminate patients with 22q11DS with (N = 31) and without (N = 31) attenuated positive psychotic symptoms...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28777863/-application-of-chromosome-microarray-analysis-for-the-delineation-of-pathogenesis-for-fetal-ventriculomegaly
#4
Zhouzhou Li, Fang Fu, Tingying Lei, Ru Li, Xiangyi Jing, Xin Yang, Jin Han, Min Pan, Li Zhen, Can Liao
OBJECTIVE: To assess the value of genome-wide high-resolution chromosomal microarray analysis (CMA) for the delineation of pathogenesis for fetal ventriculomegaly diagnosed by ultrasound or magnetic resonance imaging (MRI). METHODS: Three hundred and forty-one cases of fetal ventriculomegaly were collected. The samples were grouped based on the extent of lateral ventricular dilatation, presence of additional features, site of occurrence, and the maternal age. All samples were subjected to karyotyping analysis...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777851/-analysis-of-genomic-copy-number-variations-in-36-fetuses-with-heart-malformations-using-next-generation-sequencing
#5
Ming Gao, Hong Pang, Yanhui Zhao, Jesse Li-Ling
OBJECTIVE: To explore the implications of copy number variations (CNVs) for congenital heart diseases (CHD) in fetuses. METHODS: G-banding karyotype analysis and next-generation sequencing (NGS) technology were performed on cord blood samples derived from 36 fetuses with CHD. Pathological implication of the CNVs was explored through comparison against the International Genomic Polymorphism Database (http://www.ebi.ac.uk/dgva/), Phenotype Database (http://decipher...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28768602/completing-the-puzzle-the-search-for-pieces-in-the-understanding-of-psychosis-risk-in-22q11-2-deletion-syndrome
#6
Stephen R Hooper, Vandana Shashi
No abstract text is available yet for this article.
July 30, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28761808/machine-learning-classification-of-22q11-2-deletion-syndrome-a-diffusion-tensor-imaging-study
#7
Daniel S Tylee, Zora Kikinis, Thomas P Quinn, Kevin M Antshel, Wanda Fremont, Muhammad A Tahir, Anni Zhu, Xue Gong, Stephen J Glatt, Ioana L Coman, Martha E Shenton, Wendy R Kates, Nikos Makris
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental syndrome that has been studied intensively in order to understand relationships between the genetic microdeletion, brain development, cognitive function, and the emergence of psychiatric symptoms. White matter microstructural abnormalities identified using diffusion tensor imaging methods have been reported to affect a variety of neuroanatomical tracts in 22q11.2DS. In the present study, we sought to combine two discovery-based approaches: (1) white matter query language was used to parcellate the brain's white matter into tracts connecting pairs of 34, bilateral cortical regions and (2) the diffusion imaging characteristics of the resulting tracts were analyzed using a machine-learning method called support vector machine in order to optimize the selection of a set of imaging features that maximally discriminated 22q11...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28761081/a-neurogenetic-model-for-the-study-of-schizophrenia-spectrum-disorders-the-international-22q11-2-deletion-syndrome-brain-behavior-consortium
#8
R E Gur, A S Bassett, D M McDonald-McGinn, C E Bearden, E Chow, B S Emanuel, M Owen, A Swillen, M Van den Bree, J Vermeesch, J A S Vorstman, S Warren, T Lehner, B Morrow
Rare copy number variants contribute significantly to the risk for schizophrenia, with the 22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome (22q11DS) have an estimated 25-fold increased risk for schizophrenia spectrum disorders, compared to individuals in the general population. The International 22q11DS Brain Behavior Consortium is examining this highly informative neurogenetic syndrome phenotypically and genomically. Here we detail the procedures of the effort to characterize the neuropsychiatric and neurobehavioral phenotypes associated with 22q11DS, focusing on schizophrenia and subthreshold expression of psychosis...
August 1, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28758580/chromosomal-micro-aberration-in-a-saudi-family-with-juvenile-myoclonic-epilepsy
#9
Muhammad Imran Naseer, Adeel G Chaudhary, Sameera Sogaty, Mahmood Rasool, Sajjad Karim, Hans-Juergen Schulten, Fehmida Bibi, Peter Natesan Pushparaj, Hussein A Algahtani, Mohammad H Al-Qahtani
Epilepsy is genetically complex neurological disorder affecting millions of people of the world. Juvenile myoclonic epilepsy (JME) is a most common epilepsy syndromes that starts in the teen age group commonly between ages 12 and 18, and lasts into adulthood. Out of 14 people with epilepsy one suffer with JME. Myoclonic seizures and muscle twitching or uncontrolled jerking are the most common type of seizure in the people suffering with JME. To observe the novel CNVs involved in JME we investigated a Saudi family with nine siblings with one male and one female affected members...
July 31, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28756981/congenital-undifferentiated-sarcoma-associated-to-bcor-ccnb3-gene-fusion
#10
Clara Alfaro-Cervello, Verónica Andrade-Gamarra, Gema Nieto, Lara Navarro, Susana Martín-Vañó, Juan Pablo García de la Torre, María Bengoa Caamaño, Mª Luisa García Mauriño, Rosa Noguera, Samuel Navarro
Small round cell sarcomas are aggressive bone and soft tissue tumors that predominantly affect children and young adults. A new group of sarcomas with a recurrent BCOR-CCNB3 gene fusion has been recently identified in previously unclassifiable small round cell sarcomas. BCOR-CCNB3 sarcomas share clinical and pathologic similarities with Ewing sarcoma, but show a stronger male predilection and less aggressiveness, as well as distinct gene expression profiling and pangenomic SNP array analyses. We report the unusual case of a congenital BCOR-CCNB3 retroperitoneal sarcoma in a female born at 34th gestational week, which was diagnosed in necropsy after 21hours of life...
July 14, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28750581/rare-genome-wide-copy-number-variation-and-expression-of-schizophrenia-in-22q11-2-deletion-syndrome
#11
Anne S Bassett, Chelsea Lowther, Daniele Merico, Gregory Costain, Eva W C Chow, Therese van Amelsvoort, Donna McDonald-McGinn, Raquel E Gur, Ann Swillen, Marianne Van den Bree, Kieran Murphy, Doron Gothelf, Carrie E Bearden, Stephan Eliez, Wendy Kates, Nicole Philip, Vandana Sashi, Linda Campbell, Jacob Vorstman, Joseph Cubells, Gabriela M Repetto, Tony Simon, Erik Boot, Tracy Heung, Rens Evers, Claudia Vingerhoets, Esther van Duin, Elaine Zackai, Elfi Vergaelen, Koen Devriendt, Joris R Vermeesch, Michael Owen, Clodagh Murphy, Elena Michaelovosky, Leila Kushan, Maude Schneider, Wanda Fremont, Tiffany Busa, Stephen Hooper, Kathryn McCabe, Sasja Duijff, Karin Isaev, Giovanna Pellecchia, John Wei, Matthew J Gazzellone, Stephen W Scherer, Beverly S Emanuel, Tingwei Guo, Bernice E Morrow, Christian R Marshall
OBJECTIVE: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. METHOD: Through an international consortium, the authors obtained DNA samples from 329 psychiatrically phenotyped subjects with 22q11.2DS. Using a high-resolution microarray platform and established methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11...
July 28, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28742080/emergent-remitted-and-persistent-psychosis-spectrum-symptoms-in-22q11-2-deletion-syndrome
#12
S X Tang, T M Moore, M E Calkins, J J Yi, D M McDonald-McGinn, E H Zackai, B S Emanuel, R C Gur, R E Gur
Individuals with 22q11.2 deletion syndrome (22q11DS) are at markedly elevated risk for schizophrenia-related disorders. Stability, emergence, remission and persistence of psychosis-spectrum symptoms were investigated longitudinally. Demographic, clinical and cognitive predictors of psychosis were assessed. Prospective follow-up over 2.8 years was undertaken in 75 individuals with 22q11DS aged 8-35 years. Mood, anxiety, attention-deficit hyperactivity disorders and psychosis-spectrum symptoms were assessed with the Kiddie-Schedule for Affective Disorders and Schizophrenia and Scale of Prodromal Symptoms (SOPS)...
July 25, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28734657/exercise-performance-and-22q11-2-deletion-status-affect-quality-of-life-in-tetralogy-of-fallot
#13
Elizabeth Goldmuntz, Amy Cassedy, Laura Mercer-Rosa, Mark A Fogel, Stephen M Paridon, Bradley S Marino
OBJECTIVE: To identify mediators of health status and quality of life (QOL) in children and adolescents aged 8-18 years old following surgical repair for tetralogy of Fallot (TOF), including resource use, exercise performance, and 22q11.2 deletion status. STUDY DESIGN: We performed a corollary study to a cross-sectional analysis of subjects following repair for TOF that completed cardiac magnetic resonance imaging, cardiopulmonary exercise tests, and instruments assessing health status and QOL...
July 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28733970/new-genes-causing-hereditary-parkinson-s-disease-or-parkinsonism
#14
REVIEW
Andreas Puschmann
PURPOSE OF REVIEW: This article reviews was to review genes where putative or confirmed pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified since 2012, and summarizes the clinical and pathological picture of the associated disease subtypes. RECENT FINDINGS: Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted...
September 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28732176/a-comprehensive-craniofacial-study-of-22q11-2-deletion-syndrome
#15
A Lewyllie, J Roosenboom, K Indencleef, P Claes, A Swillen, K Devriendt, C Carels, M Cadenas De Llano-Pérula, G Willems, G Hens, A Verdonck
The 22q11.2 deletion syndrome (22q11.2DS) is one of the most frequent microdeletion syndromes and presents with a highly variable phenotype. In most affected individuals, specific but subtle facial features can be seen. In this observational study, we aim to investigate the craniofacial and dental features of 20 children with a confirmed diagnosis of 22q11.2DS by analyzing 3-dimensional (3D) facial surface scans, 2-dimensional (2D) clinical photographs, panoramic and cephalometric radiographs, and dental casts...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28725922/genetic-testing-protocol-reduces-costs-and-increases-rate-of-genetic-diagnosis-in-infants-with-congenital-heart-disease
#16
Gabrielle C Geddes, Donald Basel, Peter Frommelt, Aaron Kinney, Michael Earing
Genetic testing is routinely performed on infants with critical congenital heart disease (CHD). This project reviewed the effect of implementing a genetic testing protocol in this population. Charts of infants with critical CHD were reviewed for genetic testing and results across two time periods: the time before implementation of a genetic testing protocol (pre-protocol) and the time after implementation (post-protocol). The use of karyotype, 22q11.2 Deletion testing, and chromosomal microarray were compared across these two time periods...
July 19, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28696552/clinical-experience-with-a-single-nucleotide-polymorphism-based-noninvasive-prenatal-test-for-five-clinically-significant-microdeletions
#17
Kimberly Martin, Sushma Iyengar, Akshita Kalyan, Christine Lan, Alexander L Simon, Melissa Stosic, Katie Kobara, Harini Ravi, Tina Truong, Allison Ryan, Zachary P Demko, Peter Benn
Single-nucleotide polymorphism (SNP)-based noninvasive prenatal testing (NIPT) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations. We retrospectively analyzed the performance of SNP-based NIPT in 80,449 referrals for 22q11.2 deletion syndrome and 42,326 referrals for 1p36, cri-du-chat, Prader-Willi, and Angelman microdeletion syndromes over a one-year period, and compared the original screening protocol with a revision that reflexively sequenced high-risk calls at a higher depth of read...
July 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28696314/loss-of-function-mutation-in-mirta22-emc10-rescues-specific-schizophrenia-related-phenotypes-in-a-mouse-model-of-the-22q11-2-deletion
#18
Anastasia Diamantopoulou, Ziyi Sun, Jun Mukai, Bin Xu, Karine Fenelon, Maria Karayiorgou, Joseph A Gogos
Identification of protective loss-of-function (LoF) mutations holds great promise for devising novel therapeutic interventions, although it faces challenges due to the scarcity of protective LoF alleles in the human genome. Exploiting the detailed mechanistic characterization of animal models of validated disease mutations offers an alternative. Here, we provide insights into protective-variant biology based on our characterization of a model of the 22q11.2 deletion, a strong genetic risk factor for schizophrenia (SCZ)...
July 25, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28690994/delayed-diagnosis-of-22q11-deletion-syndrome-due-to-late-onset-hypocalcemia-in-a-11-year-old-girl-with-imperforated-anus
#19
Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28687307/altered-neurobiological-function-of-brainstem-hypoglossal-neurons-in-digeorge-22q11-2-deletion-syndrome
#20
Xin Wang, Corey Bryan, Anthony-Samuel LaMantia, David Mendelowitz
DiGeorge/22q11.2 Deletion Syndrome (22q11DS) is a common genetic microdeletion syndrome that underlies several neurodevelopmental disorders including autism, attention deficit/hyperactivity disorder, and schizophrenia. In addition to cognitive impairments, those with 22q11DS have disrupted feeding and swallowing from birth onward. This perinatal dysphagia significantly compromises nutritional status, impairs appropriate weight gain, and can lead to life threatening aspiration-based infections. Appropriately timed excitation and inhibition of brainstem hypoglossal motor neurons, which innervate tongue muscles, is essential for proper feeding and swallowing...
July 4, 2017: Neuroscience
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