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https://www.readbyqxmd.com/read/28059126/an-exploratory-study-of-predisposing-genetic-factors-for-digeorge-velocardiofacial-syndrome
#1
Laia Vergés, Francesca Vidal, Esther Geán, Alexandra Alemany-Schmidt, Maria Oliver-Bonet, Joan Blanco
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied FISH using fosmid probes on chromatin fibers to analyze the number of tandem repeat blocks in LCR22 in two DGS/VCFS fathers-of-origin with proven 22q11.2 NAHR susceptibility. Results revealed copy number variations (CNVs) of L9 and K3 fosmids in these individuals compared to controls...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28043468/outcomes-of-truncus-arteriosus-repair-in-children-35-years-of-experience-from-a-single-institution
#2
Phillip S Naimo, Tyson A Fricke, Matthew S Yong, Yves d'Udekem, Andrew Kelly, Dorothy J Radford, Andrew Bullock, Robert G Weintraub, Christian P Brizard, Igor E Konstantinov
We evaluated the long-term outcomes following repair of truncus arteriosus (TA) from a single institution. We conducted a retrospective review of children (n = 171) who underwent TA repair between 1979 and 2014. Early mortality rate was 11.7% (20/171). There were 19 late deaths. Most deaths (74%, 29/39) occurred within the first year following surgery. The 1-year mortality rate in 1979-2004 was 18% (25/136) and decreased to 11% (4/35) in 2005-2014. The overall survival rate was 73.6% at 30 years. Multivariate analysis identified postoperative extracorporeal membrane oxygenation (P = 0...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28018696/alagille-syndrome-a-case-report-highlighting-dysmorphic-facies-chronic-illness-and-depression
#3
James J Bresnahan, Zachary A Winthrop, Rabia Salman, Salman Majeed
Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature...
2016: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/27987519/-autoimmune-disorder-secondary-to-digeorge-syndrome-a-long-term-follow-up-case-report-and-literature-review
#4
Y Xie, J Q Guo, Y Hua, W H Zhao, Q Sun, X T Lu
DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease, hypothyroidism, immunodeficiency, facial abnormalities, and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus, DiGeorge syndrome can be divided into two types, complete DiGeorge syndrome and partial DiGeorge syndrome. The patient was a female born with congenital heart disease, facial abnormalities and cleft palate. When the patient went to school, she had learning difficulty and had problems in communication and personal social behavior...
December 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/27957375/cardiovascular-malformations-in-charge-syndrome-with-digeorge-phenotype-two-case-reports
#5
Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27956721/otologic-and-audiologic-outcomes-in-pediatric-patients-with-velo-cardio-facial-22q11-deletion-syndrome
#6
Forest W Weir, Sarah A Wallace, David R White, Jonathan L Hatch, Shaun A Nguyen, Ted A Meyer
OBJECTIVE: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors. STUDY DESIGN: Retrospective analysis of the AudGen Database. SETTING: Tertiary academic referral center. PATIENTS: Pediatric patients in AudGenDB with a diagnosis of velo-cardio-facial syndrome or DiGeorge syndrome...
January 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/27873105/newborn-screening-for-severe-primary-immunodeficiency-diseases-in-sweden-a-2-year-pilot-trec-and-krec-screening-study
#7
Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Rolf H Zetterström, Jovanka King, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström
Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated...
November 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27858403/cardiac-rehabilitation-in-an-adolescent-with-digeorge-syndrome-a-case-report
#8
Dong J Kim, Ka Y Lee, Yuri Choe, Jae Y Han, In S Choi
BACKGROUND: Digeorge syndrome is a rare disease that has variable clinical symptoms resulting from 22q11 deletions, included cardiac abnormality, abnormal face and thymic aplasia, and cognitive impairment. There was a no reports regarding the efficiency of cardiac rehabilitation (CR) in patients with Digeorge syndrome with tetralogy of fallot. CASE REPORT: A 15-year-old girl with DGS visited our CR center. The patient carried out the exercise training 3 times a week for 6 weeks, using a treadmill with electrocardiogram monitoring...
November 18, 2016: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27822729/-diagnosis-of-22q11-2-deletion-syndrome-in-the-context-of-newly-developed-psychosis
#9
Alexander Kaltenboeck, Fabian Friedrich, Barbara Hinterbuchinger, Zsuzsa Litvan, Nilufar Mossaheb
22q11.2 deletion syndrome (clinically also known as velocardiofacial or DiGeorge syndrome) is the most common human microdeletion syndrome and can be associated with a multitude of clinical features. In this article we report the case of a 22-year-old patient from Austria who was diagnosed with previously unknown 22q11.2 deletion syndrome in the context of newly developed psychosis. Using this case as an example, we then discuss the implications of 22q11.2 deletion syndrome for clinical psychiatric practice...
December 2016: Neuropsychiatrie: Klinik, Diagnostik, Therapie und Rehabilitation
https://www.readbyqxmd.com/read/27792854/camptodactyly-and-the-22q11-2-deletion-syndrome
#10
Natario L Couser, Chetna K Pande, Jonathan M Walsh, James Tepperberg, Arthur S Aylsworth
We describe a 5-day-old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis identified a 2.55 Mb interstitial deletion of 22q11.21, typical of that seen in the DiGeorge and Velocardiofacial syndromes. A review of the literature identifies 10 other cases with camptodactyly. Camptodactyly appears to be an associated but rarely reported anomaly in patients with the 22q11...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27771655/improvement-in-neurocognitive-manifestations-with-short-term-multidisciplinary-intervention-in-digeorge-syndrome
#11
Samir Dalwai, Elyska DeSa, Deepti Kanade Modak, Ameya Bondre
BACKGROUND: DiGeorge syndrome involves deletion of chromosomal region 22q11.2. CASE CHARACTERISTICS: 3-year-old girl presenting with speech delay showed defiant behaviour and sensory concerns. OUTCOME: Multidisciplinary intervention with parental counselling improved communication and social skills. MESSAGE: Cognitive and behavioral issues in DiGeorge syndrome should be addressed through timely, multidisciplinary intervention...
September 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27766492/co-and-no-bind-to-fe-ii-digeorge-critical-region-8-heme-but-do-not-restore-primary-microrna-processing-activity
#12
Judy P Hines, Aaron T Smith, Jose P Jacob, Gudrun S Lukat-Rodgers, Ian Barr, Kenton R Rodgers, Feng Guo, Judith N Burstyn
The RNA-binding heme protein DiGeorge critical region 8 (DGCR8) and its ribonuclease partner Drosha cleave primary transcripts of microRNA (pri-miRNA) as part of the canonical microRNA (miRNA) processing pathway. Previous studies show that bis-cysteine thiolate-coordinated Fe(III) DGCR8 supports pri-miRNA processing activity, while Fe(II) DGCR8 does not. In this study, we further characterized Fe(II) DGCR8 and tested whether CO or NO might bind and restore pri-miRNA processing activity to the reduced protein...
October 20, 2016: Journal of Biological Inorganic Chemistry: JBIC
https://www.readbyqxmd.com/read/27641147/the-microprocessor-component-dgcr8-is-essential-for-early-b-cell-development-in-mice
#13
Andreas Brandl, Patrick Daum, Sven Brenner, Sebastian R Schulz, Desmond Yat-Hin Yap, Michael R Bösl, Jürgen Wittmann, Wolfgang Schuh, Hans-Martin Jäck
microRNAs (miRNAs) are important posttranscriptional regulators during hematopoietic lineage commitment and lymphocyte development. Mature miRNAs are processed from primary miRNA transcripts in two steps by the microprocessor complex, consisting of Drosha and its partner DiGeorge Critical Region 8 (DGCR8), and the RNAse III enzyme, Dicer. Conditional ablations of Drosha and Dicer have established the importance of both RNAses in B- and T-cell development. Here, we show that a cre-mediated B-cell specific deletion of DGCR8 in mice results in a nearly complete maturation block at the transition from the pro-B to the pre-B cell stage, and a failure to upregulate Ig μ heavy chain expression in pro-B cells...
December 2016: European Journal of Immunology
https://www.readbyqxmd.com/read/27617133/a-case-of-concurrent-miller-dieker-syndrome-17p13-3-deletion-and-22q11-2-deletion-syndrome
#14
Paldeep S Atwal, C Macmurdo
Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofacial syndrome) are known to have congenital cardiac malformations (in particular conotruncal defects), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, learning disabilities, and characteristic facial features...
December 2015: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27506981/vitamin-b12-ameliorates-the-phenotype-of-a-mouse-model-of-digeorge-syndrome
#15
Gabriella Lania, Alberto Bresciani, Monica Bisbocci, Alessandra Francone, Vincenza Colonna, Sergio Altamura, Antonio Baldini
Pathological conditions caused by reduced dosage of a gene, such as gene haploinsufficiency, can potentially be reverted by enhancing the expression of the functional allele. In practice, low specificity of therapeutic agents, or their toxicity reduces their clinical applicability. Here, we have used a high throughput screening (HTS) approach to identify molecules capable of increasing the expression of the gene Tbx1, which is involved in one of the most common gene haploinsufficiency syndromes, the 22q11.2 deletion syndrome...
August 9, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27500073/sdf1-cxcr4-signaling-a-new-player-involved-in-digeorge-22q11-deletion-syndrome
#16
Jean-Loup Duband, Sophie Escot, Claire Fournier-Thibault
The DiGeorge/22q11-deletion syndrome (22q11DS), also known as velocardiofacial syndrome, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and thymus hypoplasia, and mental disorders. It results from a unique chromosomal microdeletion on the 22q11.2 region in which the transcriptional activator TBX1 is decisive for the occurrence of the disease. During embryogenesis, Tbx1 is required for patterning of pharyngeal region giving rise to structures of the face, neck and chest...
2016: Rare Diseases
https://www.readbyqxmd.com/read/27484815/primary-immunodeficiency-associated-with-chromosomal-aberration-an-esid-survey
#17
Ellen Schatorjé, Michiel van der Flier, Mikko Seppänen, Michael Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald Cuong Vinh, Laia Alsina, Anete Grumach, Pere Soler-Palacin, Thomas Boyce, Fatih Celmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot, Elisabeth Förster-Waldl, Markus Seidel, Annet Simons, Esther de Vries
BACKGROUND: Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study. METHODS: All members of the European Society for Immunodeficiencies (ESID) were invited to participate by reporting their patients with chromosomal aberration (excluding Down and DiGeorge syndromes) in combination with one or more identified immunological abnormalities potentially relating to primary immunodeficiency...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27444175/successful-t-cell-reconstitution-after-unrelated-cord-blood-transplantation-in-a-patient-with-complete-digeorge-syndrome
#18
Daiei Kojima, Hideki Muramatsu, Yusuke Okuno, Shinsuke Kataoka, Norihiro Murakami, Yoshihiro Tanahashi, Kyogo Suzuki, Tamaki Kato, Yuko Sekiya, Nozomu Kawashima, Atsushi Narita, Nobuhiro Nishio, Asahito Hama, Kohsuke Imai, Shigeaki Nonoyama, Yoshiyuki Takahashi, Seiji Kojima
No abstract text is available yet for this article.
June 16, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27436579/variant-discovery-and-breakpoint-region-prediction-for-studying-the-human-22q11-2-deletion-using-bac-clone-and-whole-genome-sequencing-analysis
#19
Xingyi Guo, Maria Delio, Nousin Haque, Raquel Castellanos, Matthew S Hestand, Joris R Vermeesch, Bernice E Morrow, Deyou Zheng
Velo-cardio-facial syndrome/DiGeorge syndrome/22q11.2 deletion syndrome (22q11.2DS) is caused by meiotic non-allelic homologous recombination events between flanking low copy repeats termed LCR22A and LCR22D, resulting in a 3 million base pair (Mb) deletion. Due to their complex structure, large size and high sequence identity, genetic variation within LCR22s among different individuals has not been well characterized. In this study, we sequenced 13 BAC clones derived from LCR22A/D and aligned them with 15 previously available BAC sequences to create a new genetic variation map...
September 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27368744/comparison-of-three-whole-genome-amplification-methods-for-detection-of-genomic-aberrations-in-single-cells
#20
Elizabeth Normand, Sadeem Qdaisat, Weimin Bi, Chad Shaw, Ignatia Van den Veyver, Arthur Beaudet, Amy Breman
OBJECTIVE: Detection of genomic copy number abnormalities in a single cell using array comparative genomic hybridization (CGH) offers a promising non-invasive alternative for prenatal diagnosis. Our objective was to compare three commercially available whole-genome amplification (WGA) kits for their capacity to produce high quality DNA from single cells that is suitable for both molecular genotyping and array CGH. METHODS: We examined kit performance on unfixed, fixed and fixed/permeabilized lymphoblastoid cells...
September 2016: Prenatal Diagnosis
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