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22q11 deletion

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https://www.readbyqxmd.com/read/28441280/the-clinical-utility-of-flexion-extension-cervical-spine-mri-in-22q11-2-deletion-syndrome
#1
Samuel E Kolman, Stephanie Y Ohara, Aashim Bhatia, Tamara Feygin, Dino Colo, Keith D Baldwin, Donna Mcdonald-Mcginn, David A Spiegel
BACKGROUND: Our goal is to correlate the findings on flexion and extension radiographs with dynamic magnetic resonance imaging (MRI), and the clinical history, in a nonrandomly selected cohort of patients with 22q11.2 deletion syndrome (22q). METHODS: All patients with the 22q who had a dynamic MRI from January 2004 to March 2015 were included. We analyzed multiple radiographic measurements on both the dynamic plain films and the MRIs, and correlated these findings with a review of each patient's medical record...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28439006/murine-model-indicates-22q11-2-signaling-adaptor-crkl-is-a-dosage-sensitive-regulator-of-genitourinary-development
#2
Meade Haller, Qianxing Mo, Akira Imamoto, Dolores J Lamb
The spectrum of congenital anomalies affecting either the upper tract (kidneys and ureters) or lower tract (reproductive organs) of the genitourinary (GU) system are fundamentally linked by the developmental origin of multiple GU tissues, including the kidneys, gonads, and reproductive ductal systems: the intermediate mesoderm. Although ∼31% of DiGeorge/del22q11.2 syndrome patients exhibit GU defects, little focus has been placed on the molecular etiology of GU defects in this syndrome. Among del22q11.2 patients exhibiting GU anomalies, we have mapped the smallest relevant region to only five genes, including CRKLCRKL encodes a src-homology adaptor protein implicated in mediating tyrosine kinase signaling, and is expressed in the developing GU-tract in mice and humans...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28438970/the-severity-of-vestibular-dysfunction-in-deafness-as-a-determinant-of-comorbid-hyperactivity-or-anxiety
#3
Michelle W Antoine, Sarath Vijayakumar, Nicholas McKeehan, Sherri M Jones, Jean M Hébert
Attention-deficit/hyperactivity disorder (ADHD) and anxiety-related disorders occur at rates 2-3 times higher in deaf compared with hearing children. Potential explanations for these elevated rates and the heterogeneity of behavioral disorders associated with deafness have usually focused on socio-environmental rather than biological effects. Children with the 22q11.2 deletion or duplication syndromes often display hearing loss and behavioral disorders including ADHD and anxiety-related disorders. Here, we show that mouse mutants with either a gain- or loss-of-function of the T-Box transcription factor gene, Tbx1, which lies within the 22q11...
April 24, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28436605/digeorge-like-syndrome-in-a-child-with-a-3p12-3-deletion-involving-mir4273-gene-born-to-a-mother-with-gestational-diabetes-mellitus
#4
Emilia Cirillo, Giuliana Giardino, Vera Gallo, Giovanni Galasso, Roberta Romano, Roberta D'Assante, Giulia Scalia, Luigi Del Vecchio, Lucio Nitsch, Rita Genesio, Claudio Pignata
Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS. In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. Recently, it has been reported that at least part of the TBX1 mutant phenotype is due to excessive bone morphogenetic proteins (BMP) signaling. Evidence suggests that miRNA may modulate the expression of critical T-box transcriptional regulators during midface development and Bmp-signaling...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28434767/extrarenal-rhabdoid-tumor-presented-with-an-immobile-arm-in-a-one-year-old-boy
#5
Chi-Ting Chung, Yen-Lin Liu, Chien-Jui Cheng, Kevin Li-Chun Hsieh, Min-Lan Tsai, Tai-Tong Wong
Infants with an immobile arm may be easily overlooked in primary care settings. Differential diagnoses include injuries, infections, neuropathies, ischemia and rarely, neoplasms. We report the case of a one-year-old boy with weakness in his left arm after minor trauma with a diagnosis of brachial plexus palsy initially. After rehabilitation for 2months, his weakness progressed to unsteady gait and quadriparesis. MRI revealed a huge solid tumor in the left supraclavicular fossa, which also involved the left brachial plexus, upper thoracic cavity, and left paravertebral space with invasion into the spinal canal...
April 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28433949/the-dimensional-structure-of-psychopathology-in-22q11-2-deletion-syndrome
#6
Maria Niarchou, Tyler M Moore, Sunny X Tang, Monica E Calkins, Donna M McDonald-McGuinn, Elaine H Zackai, Beverly S Emanuel, Ruben C Gur, Raquel E Gur
BACKGROUND: 22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known genetic risk factors for developing schizophrenia. Individuals with 22q11.2DS have high rates of neurodevelopmental disorders in childhood, while in adulthood ∼25% develop schizophrenia. Similar to the general population, high rates of comorbidity are common in 22q11.2DS. Employing a dimensional approach where psychopathology is examined at the symptom-level as complementary to diagnostic categories in a population at such high genetic risk for schizophrenia can help gain a better understanding of how psychopathology is structured as well as its genetic underpinnings...
April 15, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28431992/genomic-answers-for-recurrent-spontaneous-abortion-in-saudi-arabia-an-array-comparative-genomic-hybridization-approach
#7
Sajjad Karim, Hasan Salleh Jamal, Abdullraheem Rouzi, Mohammed Salleh M Ardawi, Hans-Juergen Schulten, Zeenat Mirza, Nuha A Alansari, Maha M Al-Quaiti, Heba Abusamra, Muhammad Imran Naseer, Rola Turki, Adeel Gulzar Chaudhary, Mamdooh Gari, Adel Mohammed Abuzenadah, Mohammed Hussain Al-Qhatani
To study the genomics/genetic factors associated with recurrent spontaneous abortion (RSA), as ∼50% of RSA are unexplained. However, chromosome abnormalities have been reported to play major role in RSA. We performed whole genome array-CGH based genomic analysis of forty four Saudi RSA patients to identify potential molecular and chromosomal abnormalities. We identified a total of 845 alterations, usually not detected by classic cytogenetic methods, in different genomic regions using a cut off value of -0...
April 18, 2017: Reproductive Biology
https://www.readbyqxmd.com/read/28430790/whole-genome-sequencing-suggests-mechanisms-for-22q11-2-deletion-associated-parkinson-s-disease
#8
Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett
OBJECTIVES: To investigate disease risk mechanisms of early-onset Parkinson's disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD. METHODS: In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigate sequence variants in nine adults with 22q11.2DS, three with neuropathologically confirmed early-onset PD and six without PD. Adopting an approach used recently to study schizophrenia in 22q11...
2017: PloS One
https://www.readbyqxmd.com/read/28429103/resolution-of-primary-immune-defect-in-22q11-2-deletion-syndrome
#9
Yiwa Suksawat, Achara Sathienkijkanchai, Jittima Veskitkul, Orathai Jirapongsananuruk, Nualanong Visitsunthorn, Pakit Vichyanond, Punchama Pacharn
PURPOSE: Patients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery among patients with 22q11.2 deletion syndrome. METHODS: Patients with 22q11.2 deletion syndrome diagnosed by fluorescence in situ hybridization (FISH) were studied. Immunological parameters were evaluated every 6 months until patients returned to normal...
April 20, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28429076/-search-for-risk-genes-in-schizophrenia
#10
D Rujescu
BACKGROUND: Schizophrenia is a severe psychiatric disease affecting approximately 0.5-1% of the general population. The relative contribution of genetic factors has been estimated to be 64-81%. OBJECTIVE: This review summarizes recent efforts to identify genetic variants associated with schizophrenia. METHODS: Relevant linkage and candidate genes as well as genome wide association studies, studies on copy number variants and next generation sequencing are presented and discussed...
April 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28421700/growth-characteristics-and-endocrine-abnormalities-in-22q11-2-deletion-syndrome
#11
Yael Levy-Shraga, Doron Gothelf, Zohar Goichberg, Uriel Katz, Raz Somech, Orit Pinhas-Hamiel, Dalit Modan-Moses
22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0±6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3±4.9 years and age at last evaluation 11.2±7.2 years. Median height-SDS was negative at all ages...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28406913/no-age-effect-in-the-prevalence-and-clinical-significance-of-ultra-high-risk-symptoms-and-criteria-for-psychosis-in-22q11-deletion-syndrome-confirmation-of-the-genetically-driven-risk-for-psychosis
#12
Marco Armando, Maude Schneider, Maria Pontillo, Stefano Vicari, Martin Debbané, Frauke Schultze-Lutter, Stephan Eliez
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is one of the highest known risk factors for schizophrenia. Thus, the detection of 22q11DS patients at particularly high risk of psychosis is important, yet studies on the clinical significance of the widely used ultra-high risk (UHR) criteria in 22q11DS are inconclusive. Since age was reported to moderate clinical significance of UHR symptoms in community samples, we explored whether age at presentation of UHR symptoms and criteria may explain part of this heterogeneity...
2017: PloS One
https://www.readbyqxmd.com/read/28402064/use-of-psychotropic-medications-and-visits-to-psychiatrists-and-psychologists-among-individuals-with-nonsyndromic-oral-clefts-a-population-based-cohort-study
#13
Dorthe Almind Pedersen, Ida Hageman, George L Wehby, Kaare Christensen
BACKGROUND: Oral clefts (OCs) are among the most common congenital malformations and can have a large impact on the life of the affected individual. Research findings regarding the psychological and psychosocial consequences of OC are inconclusive. METHODS: Using Danish nationwide registers, we investigated redeemed prescriptions of psychotropic medication during 1996 to 2012 and visits to psychiatrists and psychologists during 1996 to 2011 among individuals born with nonsyndromic OC in Denmark between 1936 and 2009 and a comparison cohort of individuals without OC...
April 12, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28397216/-prenatal-diagnosis-of-22q11-microdeletion-syndrome
#14
Meiying Cai, Hailong Huang, Na Lin, Nan Guo, Xiaoqing Wu, Linjuan Su, Liangpu Xu
OBJECTIVE: To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome. METHODS: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome. RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28396774/risk-of-malignancy-in-22q11-2-deletion-syndrome
#15
Toer Stevens, Jutte van der Werff Ten Bosch, Marjan De Rademaeker, Ann Van Den Bogaert, Machiel van den Akker
22q11.2DS is a significant health problem because of its fairly high incidence. It is relevant to be vigilant regarding the diagnosis of cancer amongst 22q11.2 patients as there might be an increased risk, especially amongst patients with the 22q11.2 distal deletion syndrome.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28390597/association-of-airway-abnormalities-with-22q11-2-deletion-syndrome
#16
Rosalba Sacca, Karen B Zur, T Blaine Crowley, Elaine H Zackai, Kathleen D Valverde, Donna M McDonald-McGinn
INTRODUCTION: 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. However, an association of 22q11.2DS with structural airway abnormalities has not been formally described. The aim of this study was to document the frequency of this association. METHODS: We retrospectively reviewed medical records of patients with 22q11.2DS evaluated in the 22q and You Center at the Children's Hospital of Philadelphia between 1999 and 2015 referred to otolaryngology for an airway assessment...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28384736/examining-a-new-method-to-studying-velopharyngeal-structures-in-a-child-with-22q11-2-deletion-syndrome
#17
Lakshmi Kollara, Graham Schenck, Michael Jaskolka, Jamie L Perry
Purpose: To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a child-friendly magnetic resonance imaging (MRI) scanning protocol in this clinically challenging population and to determine the utility of this MRI protocol for future work in this area...
April 6, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28383675/intrinsic-connectivity-network-based-classification-and-detection-of-psychotic-symptoms-in-youth-with-22q11-2-deletions
#18
Matthew Schreiner, Jennifer K Forsyth, Katherine H Karlsgodt, Ariana E Anderson, Nurit Hirsh, Leila Kushan, Lucina Q Uddin, Leah Mattiacio, Ioana L Coman, Wendy R Kates, Carrie E Bearden
22q11.2 Deletion syndrome (22q11DS) is a genetic disorder associated with numerous phenotypic consequences and is one of the greatest known risk factors for psychosis. We investigated intrinsic-connectivity-networks (ICNs) as potential biomarkers for patient and psychosis-risk status in 2 independent cohorts, UCLA (33 22q11DS-participants, 33 demographically matched controls), and Syracuse (28 22q11DS, 28 controls). After assessing group connectivity differences, ICNs from the UCLA cohort were used to train classifiers to distinguish cases from controls, and to predict psychosis risk status within 22q11DS; classifiers were subsequently tested on the Syracuse cohort...
April 5, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28381757/an-adult-case-of-chromosome-22q11-2-deletion-syndrome-associated-with-a-high-positioned-right-aortic-arch
#19
Yoichi Hoshino, Moriya Machida, Shun-Ichi Shimano, Teizo Taya
Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies of the aortic arch. Because the patient had been diagnosed with primary hypoparathyroidism at another hospital, a diagnosis of 22q11.2 DS had been overlooked. A chest X-ray examination revealed widening of the mediastinum caused by a high-positioned right aortic arch, and we subsequently confirmed a diagnosis of 22q11...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28378436/visual-perception-skills-a-comparison-between-patients-with-noonan-syndrome-and-22q11-2-deletion-syndrome
#20
Giorgia Piccini, Deny Menghini, Antea D'Andrea, Cristina Caciolo, Maria Pontillo, Marco Armando, Francesca Perrino, Luca Mandolesi, Salerni Annabella, Buzzonetti Luca, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Mariagrazia Benassi, Stefano Vicari, Paolo Alfieri
Ventral and dorsal streams are visual pathways deputed to transmit information from the photoreceptors of the retina to the lateral geniculate nucleus and then to the primary visual cortex (V1). Several studies investigated whether one pathway is more vulnerable than the other during development, and whether these streams develop at different rates. The results are still discordant. The aim of the present study was to understand the functionality of the dorsal and the ventral streams in two populations affected by different genetic disorders, Noonan syndrome and 22q11...
April 5, 2017: Genes, Brain, and Behavior
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