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https://www.readbyqxmd.com/read/29331595/the-interaction-between-neurocognitive-functioning-subthreshold-psychotic-symptoms-and-pharmacotherapy-in-22q11-2-deletion-syndrome-a-longitudinal-comparative-study
#1
R Weinberger, O Weisman, Y Guri, T Harel, A Weizman, D Gothelf
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories...
December 8, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29326822/acute-myeloid-leukemia-with-kmt2a-sept5-translocation-a-case-report-and-review-of-the-literature
#2
Shaimaa Elzamly, Santosh Chavali, Vijay Tonk, Sahil Tonk, Sumit Gaur, Darlene Tarango, Alireza Torabi
Chromosomal rearrangement involving the KMT2A gene is one of the most common genetic alteration in acute myeloid leukemia. A total of 135 different KMT2A rearrangements have been identified, where 94 translocation partner genes are now characterized at the molecular level. Of these 94 translocation partner genes, 35 translocation partner genes occur recurrently, but only 9 specific gene fusions account for more than 90% of cases. Translocation of KMT2A with SEPT5 gene at 22q11.2 is rare, with few reported cases in the literature...
2018: SAGE open medical case reports
https://www.readbyqxmd.com/read/29320483/microarray-analysis-in-pregnancies-with-isolated-unilateral-kidney-agenesis
#3
Lena Sagi-Dain, Idit Maya, Peleg Amir, Reches Adi, Ehud Banne, Hagit N Baris, Tenne Tamar, Amihood Singer, Shay Ben-Shachar
OBJECTIVE: To examine the risk for submicroscopic chromosomal aberrations among fetuses with apparently isolated solitary kidney. METHODS: Data acquisition was performed retrospectively by searching Israeli Ministry of Health computerized database. All cases having chromosomal microarray analysis (CMA) referred due to an indication of isolated unilateral kidney agenesis between January 2013 and September 2016 were included. Rate of clinically significant CMA findings in these pregnancies was compared to pregnancies with normal ultrasound, based on a systematic review encompassing 9792 cases and local data of 5541 pregnancies undergoing CMA due to maternal request...
January 10, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29310563/evaluation-of-factors-associated-with-achievement-of-biventricular-repair-after-bilateral-pulmonary-artery-banding-in-patients-with-interrupted-aortic-arch
#4
Yasuhiro Hirano, Noboru Inamura, Yukiko Kawazu, Hisaaki Aoki, Futoshi Kayatani, Shigemitsu Iwai, Hiroaki Kawata
BACKGROUND: At our institution, we perform bilateral pulmonary artery banding (BPAB) as the first-stage palliation for interrupted aortic arch (IAA) with low birth weight or severe subaortic stenosis (SAS). The present study aimed to identify factors that may influence the decision regarding the type of second-stage operation, that is, univentricular palliation or biventricular repair, in these patients. METHODS: Cardiac catheterization and angiographic data of nine patients with IAA who underwent initial BPAB and subsequent univentricular or biventricular repair were retrospectively analyzed...
January 2018: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29308211/elevated-homocysteine-and-n-methyl-d-aspartate-receptor-antibodies-as-a-cause-of-behavioural-and-cognitive-decline-in-22q11-2-deletion-syndrome
#5
Simon Vann Jones, Subimal Banerjee, A David Smith, Helga Refsum, Belinda Lennox
A 19-year-old male with 22q11.2 deletion syndrome presented with a 4-year history of cognitive decline and symptoms suggestive of atypical psychosis. Potential for elevated homocysteine and NMDA-receptor antibodies in the pathogenesis of his symptoms was investigated. He had elevated blood homocysteine level (18.7 μmol/l), low-normal vitamin B12 and folate levels and was positive for NMDA-receptor antibodies. Treatment with daily folinic acid (0.8 mg) and vitamin B12 (1 mg) led to dramatic improvement in his cognitive and behavioural presentation...
December 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29307791/pdd-nos-psychotic-features-and-executive-function-deficits-in-a-boy-with-proximal-22q11-2-microduplication-evolution-of-the-psychiatric-symptom-profile-from-childhood-to-adolescence
#6
L Woestelandt, A Novo, A Philippe, N Guyaux, M Rio, S Romano, L Robel
22q11.2 microduplication (22q11.2DupS) is associated with a broad spectrum of phenotypes, including normality. Psychiatric disorders are described in 13% of these patients, including Attention Deficit and Hyperactivity Disorder (ADHD), Intellectual Deficiency (ID), and Autism Spectrum Disorder (ASD), but not schizophrenia. We report changes in the psychiatric symptom profile in the course of development of a young boy with a 22q11.2DupS syndrome, from early childhood to adolescence. The boy's psychiatric presentation was characterized by features of Pervasive Developmental Disorder (PDD), with ADHD in early childhood, a single psychotic episode in mid-infancy, and executive impairment in adolescence...
January 4, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29305086/the-candidate-schizophrenia-risk-gene-dgcr2-regulates-early-steps-of-corticogenesis
#7
Aude Molinard-Chenu, Alexandre Dayer
BACKGROUND: Alterations in early steps of cortical circuit assembly are thought to play a critical role in vulnerability to schizophrenia (SZ), but the pathogenic impact of SZ-risk mutations on corticogenesis remains to be determined. DiGeorge syndrome critical region 2 (DGCR2) is located in the 22q11.2 locus, whose deletion is a major risk factor for SZ. Moreover, exome sequencing of individuals with idiopathic SZ identified a rare missense mutation in DGCR2, further suggesting that DGCR2 is involved in SZ...
November 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29301846/epithelial-properties-of-the-second-heart-field
#8
REVIEW
Claudio Cortes, Alexandre Francou, Christopher De Bono, Robert G Kelly
The vertebrate heart tube forms from epithelial progenitor cells in the early embryo and subsequently elongates by progressive addition of second heart field (SHF) progenitor cells from adjacent splanchnic mesoderm. Failure to maximally elongate the heart results in a spectrum of morphological defects affecting the cardiac poles, including outflow tract alignment and atrioventricular septal defects, among the most common congenital birth anomalies. SHF cells constitute an atypical apicobasally polarized epithelium with dynamic basal filopodia, located in the dorsal wall of the pericardial cavity...
January 5, 2018: Circulation Research
https://www.readbyqxmd.com/read/29288792/distal-deletion-at-22q11-2-as-differential-diagnosis-in-craniofacial-microsomia-case-report-and-literature-review
#9
Samira Spineli-Silva, Luciana M Bispo, Vera L Gil-da-Silva-Lopes, Társis P Vieira
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, - malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis...
December 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29288155/association-between-tetralogy-of-fallot-and-tracheobronchial-branching-abnormalities-a-new-clue-for-pathogenesis
#10
Guillaume Chassagnon, Bruno Lefort, Mathilde Meot, Elodie Carpentier, Dominique Sirinelli, Alain Chantepie, Baptiste Morel
BACKGROUND: In our practice, we noticed an increased frequency of tracheobronchial branching abnormalities (TBAs) in patients with tetralogy of Fallot (ToF). This study aimed to determine whether an association exists between congenital TBAs and ToF with or without pulmonary atresia. METHODS AND RESULTS: The frequency of TBAs on chest computed tomography was assessed in 55 patients with ToF without pulmonary atresia, 34 patients with ToF with pulmonary arteria, and 100 control patients...
December 29, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29287846/congenital-respiratory-tract-disorders-in-22q11-2-deletion-syndrome
#11
Emmy Verheij, Lucienne Speleman, Aebele B Mink van der Molen, Henricus G X M Thomeer
OBJECTIVE: Respiratory tract disorders have been reported in patients with 22q11.2 deletion syndrome, however infrequently. This study describes the respiratory tract disorders encountered in a cohort of 278 patients with 22q11.2 deletion syndrome. METHODS: We conducted a retrospective, cross-sectional, study at a single tertiary referral center. We identified the patients with 22q11.2 deletion syndrome and with an upper and/or lower respiratory tract disorder at our otorhinolaryngologic department...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#12
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29281626/integrated-rare-variant-based-risk-gene-prioritization-in-disease-case-control-sequencing-studies
#13
Jhih-Rong Lin, Quanwei Zhang, Ying Cai, Bernice E Morrow, Zhengdong D Zhang
Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies...
December 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29279955/duplication-and-deletion-of-22q11-associated-with-anomalous-pulmonary-venous-connection
#14
Ruixue Cao, Sijie Liu, Chunjie Liu, Sun Chen, Fen Li, Kun Sun, Rang Xu
Anomalous pulmonary venous connection (APVC) is an uncommon congenital anomaly in which pulmonary venous blood flows directly into the right side of the heart or into the systemic veins. To identify whether there is any association between 22q11 CNVs and APVC, we analyzed the clinical data of 86 APVC patients and then studied the CNVs of 22q11 in 86 sporadic APVC patients by multiplex ligation-dependent probe amplification. The results showed that two patients carried the CNVs of 22q11, one patient had the deletion of 22q11 and the other had the duplication of 22q11...
December 26, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29247566/application-of-the-bacs-on-beadstm-assay-for-rapid-prenatal-detection-of-aneuploidies-and-microdeletions
#15
Hailong Huang, Min Zhang, Yan Wang, Na Lin, Deqin He, Meihuan Chen, Lingji Chen, Yuan Lin, Liangpu Xu
Prenatal diagnosis focuses on the detection of anatomic and physiologic problems with a foetus before birth. Karyotyping is currently considered the gold standard for prenatal diagnosis of chromosomal abnormalities, but this method can be time consuming. This study evaluated the diagnostic accuracy of the BACs-on-BeadsTM (BoBsTM ) assay for the rapid diagnosis of aneuploidies and microdeletions. A total of 625 samples from pregnant women in Fujian province, in southeastern China - including 3 chorionic villus biopsies, 523 amniotic fluid samples, and 99 umbilical-cord centesis samples - were assessed for chromosomal abnormalities by karyotyping and by the BoBsTM assay...
December 16, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/29246465/resource-use-and-morbidities-in-pediatric-cardiac-surgery-patients-with-genetic-conditions
#16
Jamie Furlong-Dillard, David Bailly, Venugopal Amula, Jacob Wilkes, Susan Bratton
OBJECTIVE: To evaluate and describe resource use and perioperative morbidities among those patients with genetic conditions undergoing cardiac surgery. STUDY DESIGN: Using the Pediatric Health Information System database, we identified patients ≤18 years old with cardiac surgery classified by Risk Adjustment for Congenital Heart Surgery (RACHS) during 2003-2014. A total of 95 253 patients met study criteria and included no genetic conditions (84.6%), trisomy 21 (9...
December 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29233233/chromosome-22q11-deletion-in-a-patient-with-pulmonary-atresia-intact-ventricular-septum-and-confluent-branch-pulmonary-arteries
#17
Varun Aggarwal, Michaki Imamura, Carlos Acuna, Antonio G Cabrera
In this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities...
December 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29212157/pka-activation-and-endothelial-claudin-5-breakdown-in-the-schizophrenic-prefrontal-cortex
#18
Keisuke Nishiura, Naoki Ichikawa-Tomikawa, Kotaro Sugimoto, Yasuto Kunii, Korehito Kashiwagi, Mizuko Tanaka, Yuichi Yokoyama, Mizuki Hino, Takashi Sugino, Hirooki Yabe, Hitoshi Takahashi, Akiyoshi Kakita, Tetsuya Imura, Hideki Chiba
Schizophrenia is thought to be caused by a combination of genetic and environmental factors; however, its pathogenesis remains largely unknown. Here, we focus on the endothelial tight-junction protein claudin-5 (CLDN5), because the CLDN5 gene is mapped to the schizophrenia-associated 22q11.2 deletion region, and a single nucleotide polymorphism in the CLDN5 locus is also linked to schizophrenia. We show, by RT-qPCR and immunohistochemistry, that the expressions of CLDN5 mRNA and protein are significantly increased and decreased, respectively, in the schizophrenic prefrontal cortex (PFC) compared with control PFC...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29199443/successful-prediction-of-a-left-nonrecurrent-laryngeal-nerve-in-a-patient-with-right-sided-aorta-and-aberrant-left-subclavian-artery
#19
Xiaoyang Hua, Henry Diggelmann, Vishram Jalukar, Joseph W Turek, Nitin A Pagedar
BACKGROUND: Left nonrecurrent laryngeal nerve (LNRLN) is an extremely rare anatomic variant. The development of such anatomic variation requires the regression of both the fourth (aortic arch) and sixth (ductus arteriosus, DA) arches on the left side. Preoperative prediction of this variant is difficult but might reduce risk of nerve injury. METHODS: A 34-year-old female was indicated for thyroidectomy for a 2.4 cm follicular neoplasm and Graves' disease. Due to a positive medical history of 22q11...
December 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/29194955/incomplete-penetrance-variable-expressivity-or-dosage-insensitivity-in-four-families-with-directly-transmitted-unbalanced-chromosome-abnormalities
#20
Mark S Bateman, Morag N Collinson, David J Bunyan, Amanda L Collins, Philippa Duncan, Rachel Firth, Victoria Harrison, Tessa Homfray, Shuwen Huang, Beth Kirk, Katherine L Lachlan, Viv K Maloney, John C K Barber
The direct transmission of microscopically visible unbalanced chromosome abnormalities (UBCAs) is rare and usually has phenotypic consequences. Here we report four families in which a normal phenotype was initially found in one or more family members. Each UBCA was interpreted with regard to overlapping examples and factors previously associated with transmitted imbalances including incidental ascertainment, low gene density, benign copy number variation (CNV) content, and gene relatedness. A 4.56 Mb deletion of 8p23...
December 1, 2017: American Journal of Medical Genetics. Part A
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