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22q11 deletion

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https://www.readbyqxmd.com/read/29788028/atypical-teratoid-rhabdoid-tumor-of-the-spinal-cord-in-a-child-case-report-and-comprehensive-review-of-the-literature
#1
Mohammed Babgi, Alaa Samkari, Abeer Al-Mehdar, Shaker Abdullah
INTRODUCTION: Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is characterized by SMARCB1/INI deletion or mutation in the long arm of chromosome 22 11(22q11.2), also resulting in loss of nuclear expression of INI1 protein immunohistochemically. AT/RT tumors usually occur in children below 3 years. The tumor is usually seen in the cerebellum or the cerebrum, with an extremely rare incidence in the spinal cord. MATERIALS AND METHODS: We report a rare case of AT/RT in a 6-year-old boy who had a primary spinal cord lesion in the thoracolumbar junction...
May 22, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29777584/neuropsychiatric-expression-and-catatonia-in-22q11-2-deletion-syndrome-an-overview-and-case-series
#2
Nancy J Butcher, Erik Boot, Anthony E Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S Bassett
Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11...
May 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#3
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29752303/typical-features-of-parkinson-disease-and-diagnostic-challenges-with-microdeletion-22q11-2
#4
Erik Boot, Nancy J Butcher, Sean Udow, Connie Marras, Kin Y Mok, Satoshi Kaneko, Matthew J Barrett, Paolo Prontera, Brian D Berman, Mario Masellis, Boris Dufournet, Karine Nguyen, Perrine Charles, Eugénie Mutez, Teodor Danaila, Aurélia Jacquette, Olivier Colin, Sophie Drapier, Michel Borg, Ania M Fiksinski, Elfi Vergaelen, Ann Swillen, Annick Vogels, Annika Plate, Claudia Perandones, Thomas Gasser, Kristien Clerinx, Frédéric Bourdain, Kelly Mills, Nigel M Williams, Nicholas W Wood, Jan Booij, Anthony E Lang, Anne S Bassett
OBJECTIVE: To delineate the natural history, diagnosis, and treatment response of Parkinson disease (PD) in individuals with 22q11.2 deletion syndrome (22q11.2DS), and to determine if these patients differ from those with idiopathic PD. METHODS: In this international observational study, we characterized the clinical and neuroimaging features of 45 individuals with 22q11.2DS and PD (mean follow-up 7.5 ± 4.1 years). RESULTS: 22q11.2DS PD had a typical male excess (32 male, 71...
May 11, 2018: Neurology
https://www.readbyqxmd.com/read/29750287/an-update-on-common-chromosome-microdeletion-and-microduplication-syndromes
#5
Paula Goldenberg
This review summarizes common microdeletion and microduplication syndromes and highlights important updates in patient-care needs for people with these conditions (22q11.2, 7q11.23, 17p11.2, and 16p11.2). These conditions are in chromosomal "hotspots" and have an estimated prevalence of 1 in 1,000 to 1 in 25,000. Some conditions have possible increased or decreased genetic risk of schizophrenia (22q11.2 deletion and duplication), or risk of aortic dilation (7q11.23 duplication) versus aortic stenosis (7q11...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29749539/somatic-copy-number-alterations-have-prognostic-impact-in-patients-with-ovarian-clear-cell-carcinoma
#6
Asuka Morikawa, Tomoatsu Hayashi, Mana Kobayashi, Yuki Kato, Katsuhiko Shirahige, Takehiko Itoh, Mitsuyoshi Urashima, Aikou Okamoto, Tetsu Akiyama
Ovarian clear cell carcinoma (OCCC) is a chemotherapy‑resistant epithelial ovarian cancer with poor prognosis. To identify genomic alterations involved in the development of OCCC, we analyzed somatic copy number alterations in OCCC using comparative genomic hybridization (CGH). Here we showed that the chromosomal regions 8p11.21, 8p11.22, 12p13.31 and 20q13.2 were amplified in OCCC. We also demonstrated that small segments in the chromosomal regions 3q26.1, 4q13.2 and 22q11.23 were deleted. Kaplan‑Meier survival analyses revealed that patients with amplification within 8p11...
May 8, 2018: Oncology Reports
https://www.readbyqxmd.com/read/29747250/-rare-primary-proximal-epithelioid-sarcoma-in-skull-base-clinical-analysis-of-four-cases
#7
Z J Duan, K Yao, Y M Qu, M Ren, Y L Zhang, X L Qi
Objective: To report the clinical and pathological features of primary proximal epithelioid sarcoma (PES) in skull base. Methods: The clinical and pathological features of four cases of PES in skull base from Sanbo Brain Institute of Capital Medical University and Kunming Sanbo Brain Institute were analysed retrospectively. Results: Three cases was female, and one male, the age ranged from 46 to 52 years.All cases occurred in skull base, and sellar region was the main site of involvement.Under the microscope, the tumor cells characterized by epithelioid cell changes, with or without rhabdoid tumor cells...
April 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29742969/perioperative-and-anesthetic-considerations-in-interrupted-aortic-arch
#8
Nelson Burbano-Vera, Katherine L Zaleski, Gregory J Latham, Viviane G Nasr
Interrupted aortic arch (IAA) is defined as the loss of luminal continuity between the ascending and descending aorta and is classified based on the anatomic level of interruption. IAA is associated with a number of intracardiac anomalies with the most common being patent ductus arteriosus, ventricular septal defect, and left ventricular outflow obstruction. There is also a strong association between type B interruption and 22q11 deletion syndrome. The perioperative management of the neonate with IAA begins in the intensive care unit with optimization of end-organ perfusion and function...
May 1, 2018: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29735153/cortical-dysconnectivity-measured-by-structural-covariance-is-associated-with-the-presence-of-psychotic-symptoms-in-22q11-2-deletion-syndrome
#9
Corrado Sandini, Elisa Scariati, Maria Carmela Padula, Maude Schneider, Marie Schaer, Dimitri Van De Ville, Stephan Eliez
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the third-largest known genetic risk factor for the development of psychosis. Dysconnectivity has consistently been implicated in the physiopathology of psychosis. Structural covariance of cortical morphology is a method of exploring connectivity among brain regions that to date has not been employed in 22q11DS. METHODS: In the present study we employed structural covariance of cortical thickness to explore connectivity alterations in a group of 108 patients with 22q11DS compared with 96 control subjects...
May 2018: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29732908/airway-anomalies-in-patients-with-22q11-2-deletion-syndrome-a-5-year-review
#10
Joel W Jones, Meghan Tracy, Mollie Perryman, Jill M Arganbright
OBJECTIVES: To characterize the frequency of airway anomalies in patients with 22q11.2 deletion syndrome (22q11DS). METHODS: Retrospective review of patients with 22q11DS who had undergone microlaryngoscopy/bronchoscopy (MLB) for aerodigestive symptoms at a tertiary care children's hospital from 2011 to 2016. RESULTS: Thirty patients underwent an MLB due to the following indications: aspiration (11), stridor (10), chronic respiratory failure due to ventilator dependence (8), and difficult intubation (1)...
May 1, 2018: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/29728175/congenital-and-iatrogenic-laryngeal-and-vocal-abnormalities-in-patients-with-22q11-2-deletion
#11
Bridget Ebert, James Sidman, Noelle Morrell, Brianne Barnett Roby
BACKGROUND: Voice abnormalities often go unrecognized in patients with 22q11.2 deletion because speech abnormalities become the focus of evaluation. OBJECTIVE: To analyze voice and vocal fold abnormalities in patients with 22q11.2 deletion by examining voice, not speech. METHODS: This is a case series with chart review from 2009 to 2016. Records of both a velocardiofacial syndrome (VCF) clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29726930/functional-variants-in-tbx2-are-associated-with-a-syndromic-cardiovascular-and-skeletal-developmental-disorder
#12
Ning Liu, Kelly Schoch, Xi Luo, Loren Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen Deak, Marie T McDonald, Allyn McConkie-Rosell, M Louise Markert, Peter G Kranz, Nicholas Stong, Anna C Need, David Bick, Michelle D Amaral, Elizabeth A Worthey, Shawn Levy, Michael F Wangler, Hugo J Bellen, Shashi Vandana, Shinya Yamamoto
The seventeen genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion. We report four individuals with an overlapping spectrum of craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments, reminiscent of DiGeorge syndrome, who are heterozygotes for TBX2 variants...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29713328/high-incidence-of-severe-combined-immunodeficiency-disease-in-saudi-arabia-detected-through-combined-t-cell-receptor-excision-circle-and-next-generation-sequencing-of-newborn-dried-blood-spots
#13
Hamoud Al-Mousa, Ghadah Al-Dakheel, Amal Jabr, Fahd Elbadaoui, Mohamed Abouelhoda, Mansoor Baig, Dorota Monies, Brian Meyer, Abbas Hawwari, Majed Dasouki
Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PID). T-cell receptor excision circle (TREC) copy number analysis is an efficient tool for population-based newborn screening (NBS) for SCID and other T cell lymphopenias. We sought to assess the incidence of SCID among Saudi newborn population and examine the feasibility of using targeted next generation sequencing PID gene panel (T-NGS PID) on DNA isolated from dried blood spots (DBSs) in routine NBS programs as a mutation screening tool for samples with low TREC count...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29712475/developmental-delay-treatment-resistant-psychosis-and-early-onset-dementia-in-a-man-with-22q11-deletion-syndrome-and-huntington-s-disease
#14
Martilias Farrell, Maya Lichtenstein, James J Crowley, Dawn M Filmyer, Gabriel Lázaro-Muñoz, Rita A Shaughnessy, Ian R Mackenzie, Veronica Hirsch-Reinshagen, Robert Stowe, James P Evans, Jonathan S Berg, Jin Szatkiewicz, Richard C Josiassen, Patrick F Sullivan
No abstract text is available yet for this article.
May 1, 2018: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29703646/striatal-dopamine-release-and-impaired-reinforcement-learning-in-adults-with-22q11-2-deletion-syndrome
#15
Esther D A van Duin, Zuzana Kasanova, Dennis Hernaus, Jenny Ceccarini, Alexander Heinzel, Felix Mottaghy, Siamak Mohammadkhani-Shali, Oliver Winz, Michael Frank, Merrit C H Beck, Jan Booij, Inez Myin-Germeys, Thérèse van Amelsvoort
22q11.2 deletion syndrome (22q11DS) is a genetic disorder caused by a microdeletion on chromosome 22q11.2 and associated with an increased risk for developing psychosis. The catechol-O-methyltransferase (COMT) gene is located in the deleted region and involved in dopamine (DA) breakdown. Impaired reinforcement learning (RL) is a recurrent feature in psychosis and thought to be related to abnormal striatal DA function. This study aims to examine RL and the potential association with striatal DA-ergic neuromodulation in 22q11DS...
April 24, 2018: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29696780/neurodevelopmental-outcome-in-22q11-2-deletion-syndrome-and-management
#16
Ann Swillen, Edward Moss, Sasja Duijff
The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social-emotional difficulties. Poor cognitive functioning and intellectual disabilities, attention and executive functioning deficits, learning disorders, emotional dysregulation and impairments in social processing are common among individuals with 22q11.2 DS. Identifying risk and protective/resilience factors that can be detected in early life and can predict neurodevelopmental outcomes for people with 22q11...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#17
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29671046/digeorge-syndrome-relevance-of-psychiatric-symptoms-in-undiagnosed-adult-patients
#18
Christoph Kraus, Thomas Vanicek, Ana Weidenauer, Tav Khanaqa, Mara Stamenkovic, Rupert Lanzenberger, Matthäus Willeit, Siegfried Kasper
DiGeorge syndrome or 22q11.2 deletion syndrome is one of the most common genetic microdeletion syndromes in humans. In addition to physical manifestations, DiGeorge syndrome is associated with a high prevalence of psychiatric disorders, such as intellectual disability, schizophrenia and attention-deficit/hyperactivity disorder. Usually, the diagnosis of DiGeorge syndrome is made in early childhood. This article reports on the late diagnosis of a patient with panic disorder and comorbid major depression at the age of 51...
April 18, 2018: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/29668722/a-family-of-long-intergenic-non-coding-rna-genes-in-human-chromosomal-region-22q11-2-carry-a-dna-translocation-breakpoint-at-rich-sequence
#19
Nicholas Delihas
FAM230C, a long intergenic non-coding RNA (lincRNA) gene in human chromosome 13 (chr13) is a member of lincRNA genes termed family with sequence similarity 230. An analysis using bioinformatics search tools and alignment programs was undertaken to determine properties of FAM230C and its related genes. Results reveal that the DNA translocation element, the Translocation Breakpoint Type A (TBTA) sequence, which consists of satellite DNA, Alu elements, and AT-rich sequences is embedded in the FAM230C gene. Eight lincRNA genes related to FAM230C also carry the TBTA sequences...
2018: PloS One
https://www.readbyqxmd.com/read/29666363/altered-function-and-maturation-of-primary-cortical-neurons-from-a-22q11-2-deletion-mouse-model-of-schizophrenia
#20
Ziyi Sun, Damian J Williams, Bin Xu, Joseph A Gogos
Given its high penetrance, clearly delineated and evolutionary conserved genomic structure, mouse models of the 22q11.2 deletion provide an ideal organism-based and cell-based model of this well-established disease mutation for schizophrenia. In this study we examined the development of changes in intrinsic properties, action potential firing and synaptic transmission using whole-cell patch-clamp recordings of cultured embryonic cortical neurons from Df(16)A +/- and WT mice at DIV7 and DIV14, respectively. Compared to neurons from the WT littermates, significantly increased input resistance and decreased rising rate of action potential was observed in Df(16)A +/- mice at DIV7 but not at DIV14 indicative of delayed neuronal maturation...
April 18, 2018: Translational Psychiatry
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