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https://www.readbyqxmd.com/read/27873105/newborn-screening-for-severe-primary-immunodeficiency-diseases-in-sweden-a-2-year-pilot-trec-and-krec-screening-study
#1
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
#2
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
#3
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
#4
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...
October 28, 2016: 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
#5
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
#6
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
#7
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...
October 5, 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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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...
July 19, 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
#14
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
https://www.readbyqxmd.com/read/27366335/thrombocytopenia-and-postpartum-hemorrhage-in-a-woman-with-chromosome-22q11-2-deletion-syndrome
#15
Sarah L Pachtman, Kathy Deng, Deepak Nanda
Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause of maternal morbidity and mortality globally. Chromosome 22q11.2 deletion syndrome is rare cause of thrombocytopenia that can be a significant risk factor for life-threatening postpartum hemorrhage. We report a case of postpartum hemorrhage in a woman with 22q11...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27326128/investigation-of-tbx1-gene-deletion-in-iranian-children-with-22q11-2-deletion-syndrome-correlation-with-conotruncal-heart-defects
#16
Hamid Ganji, Mansoor Salehi, Maryam Sedghi, Hossein Abdali, Nayereh Nouri, Leyli Sadri, Majid Hosseinzadeh, Bahareh Vakili, Mahdi Lotfi
BACKGROUND: DiGeorge syndrome (DGS) is the result of a microdeletion in chromosome 22q11.2 in over 90% of cases. DGS is the second most frequent syndrome after Down syndrome and has an incidence of 1/4000 births. Unequal crossover between low-copy repeats, on the proximal part of the long arm of chromosome 22, usually results in a 3 Mb deletion in one of the chromosome 22 and a reciprocal and similarly sized duplication on the other one. Several studies have indicated that TBX1 (T-box 1) haploinsufficiency is responsible for many of the phenotypic traits of 22q11...
2013: Heart Asia
https://www.readbyqxmd.com/read/27305589/treatment-of-schizophrenia-by-clozapine-in-an-adolescent-girl-with-digeorge-syndrome
#17
Hatice Aksu, Sevcan Karakoç Demirkaya
No abstract text is available yet for this article.
September 2016: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/27300488/pre-and-postnatal-diagnosis-of-10p14-deletion-and-22q11-2-deletion-syndrome-and-significance-of-non-cardiac-markers
#18
Mitesh Shetty, Ambika Srikanth, Jayarama Kadandale, Sridevi Hegde
Congenital heart defect (CHD) is the most common form of birth defects. There is a high association between increased nuchal translucency and CHD in fetuses, and CHD in the antenatal period has a high incidence of 22q11.2 deletion syndrome (22q11.2DS). Apart from 22q11.2DS, the BRUNOL3 gene at 10p14 is also associated with DiGeorge-like features. We studied a total of 110 pre- and postnatal CHD cases with FISH probes. 22q11.2DS was detected in 5 cases and 10p14 deletion in 1 case. Antenatally diagnosed cases of CHD should be investigated by karyotyping and 22q11...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27256596/rebalancing-gene-haploinsufficiency-in-vivo-by-targeting-chromatin
#19
Filomena Gabriella Fulcoli, Monica Franzese, Xiangyang Liu, Zhen Zhang, Claudia Angelini, Antonio Baldini
Congenital heart disease (CHD) affects eight out of 1,000 live births and is a major social and health-care burden. A common genetic cause of CHD is the 22q11.2 deletion, which is the basis of the homonymous deletion syndrome (22q11.2DS), also known as DiGeorge syndrome. Most of its clinical spectrum is caused by haploinsufficiency of Tbx1, a gene encoding a T-box transcription factor. Here we show that Tbx1 positively regulates monomethylation of histone 3 lysine 4 (H3K4me1) through interaction with and recruitment of histone methyltransferases...
2016: Nature Communications
https://www.readbyqxmd.com/read/27256438/-prenatal-diagnosis-of-chromosome-abnormalities-and-nine-microdeletion-syndromes-using-both-traditional-karyotyping-and-bobs
#20
X H Tang, B C Yang, S Zhu, J Su, J M Zhang, Y F Yin, Y Feng, D M Li, Q F Zhao, R Yu, B S Zhu
OBJECTIVE: To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. METHODS: From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis...
May 25, 2016: Zhonghua Fu Chan Ke za Zhi
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