keyword
MENU ▼
Read by QxMD icon Read
search

DiGeorge

keyword
https://www.readbyqxmd.com/read/29726930/functional-variants-in-tbx2-are-associated-with-a-syndromic-cardiovascular-and-skeletal-developmental-disorder
#1
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/29719408/role-of-digeorge-syndrome-critical-region-gene-9-a-long-noncoding-rna-in-gastric-cancer
#2
Chao Ni, Ping Yang, Junming Guo, Meng Ye
Introduction: Long non-coding RNAs (lncRNAs) regulate and influence cancer cell development and tumor formation. However, the role for lncRNAs in gastric cancer has not been fully established. In this study, DGCR9 , a lncRNA, was significantly upregulated in gastric cancer cell lines. Methods: The expression levels of DGCR9 in each patient between formalin-fixed, paraffin-embedded (FFPE) gastric cancer tissues and adjacent noncancer tissues (NAT) (n=102) were measured by quantitative reverse-transcription polymerase chain reaction (qRT-PCR)...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29680196/sperm-meiotic-segregation-of-a-balanced-interchromosomal-reciprocal-insertion-resulting-in-recurrent-spontaneous-miscarriage
#3
Gaëlle Salaun, Andrei Tchirkov, Christine Francannet, Hanae Pons, Florence Brugnon, Celine Pebrel-Richard, Laetitia Gouas, Eleonore Eymard-Pierre, Philippe Vago, Carole Goumy
RESEARCH QUESTION: Is sperm fluorescence in-situ hybridization (FISH) useful to evaluate the risk of chromosomally unbalanced gametes in interchromosomal reciprocal insertion (IRI) carriers? How do these imbalances lead to recurrent miscarriages? DESIGN: This study reports a clinical and molecular study of a rare familial balanced IRI resulting in recurrent spontaneous miscarriage. Sperm FISH was performed to estimate the number of unbalanced gametes. RESULTS: A 31-year-old healthy male (proband) and his 28-year-old female partner were referred to the Genetics Department for three spontaneous miscarriages occurring during the first trimester of pregnancy...
April 9, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29675073/digeorge-syndrome-with-sacral-myelomeningocele-and-epilepsy
#4
Gülsüm Alkan, Melike Keser Emiroglu, Ayse Kartal
DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Furthermore, in patients with DGS, seizures can occur due to hypocalcemia or cortical dysgenesis. Few cases of epilepsy have been reported with NTDs without a cortical defect...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29671046/digeorge-syndrome-relevance-of-psychiatric-symptoms-in-undiagnosed-adult-patients
#5
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/29649938/preoperative-physiology-imaging-and-management-of-interrupted-aortic-arch
#6
Kevin Friedman
Interrupted aortic arch (IAA) is a rare form of critical neonatal heart disease in which there is lack of continuity between the ascending aorta and the descending thoracic aorta. In the absence of prenatal diagnosis, patients with IAA present in shock when the patent ductus arteriosus closes. Diagnosis can generally be made by echocardiography, and initiation of prostaglandin E1 infusion allows for adequate lower body perfusion prior to surgical repair. Full neonatal repair can be achieved with good outcomes in most cases...
April 1, 2018: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29622714/hypocalcaemia-in-an-adult-the-importance-of-not-overlooking-the-cause
#7
Catarina Abrantes, Daniela Brigas, Hugo Jorge Casimiro, Margarida Madeira
A 58-year-old male patient was admitted at the São Bernardos's Hospital (Setúbal, Portugal) with generalised muscle spasms, dyspnoea, laryngospasm and bronchospasm in the context of severe hypocalcaemia. Despite efforts to correct serum calcium, it remained below average, leading to question the true cause of hypocalcaemia. Low parathyroid hormone and 25-hydroxyvitamin D, along with facial anomalies, palate defect and cognitive impairment with concomitant psychiatric disorder led to a suspicion of a DiGeorge/velocardiofacial/22q11...
April 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29617297/the-combinational-use-of-crispr-cas9-and-targeted-toxin-technology-enables-efficient-isolation-of-bi-allelic-knockout-non-human-mammalian-clones
#8
Satoshi Watanabe, Takayuki Sakurai, Shingo Nakamura, Kazuchika Miyoshi, Masahiro Sato
Recent advances in genome editing systems such as clustered regularly interspaced short palindromic repeats/CRISPR-associated protein-9 nuclease (CRISPR/Cas9) have facilitated genomic modification in mammalian cells. However, most systems employ transient treatment with selective drugs such as puromycin to obtain the desired genome-edited cells, which often allows some untransfected cells to survive and decreases the efficiency of generating genome-edited cells. Here, we developed a novel targeted toxin-based drug-free selection system for the enrichment of genome-edited cells...
April 4, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29611009/development-of-electrospun-chitosan-polyethylene-oxide-fibrinogen-biocomposite-for-potential-wound-healing-applications
#9
Tony T Yuan, Ann Marie DiGeorge Foushee, Monica C Johnson, Angela R Jockheck-Clark, Jonathan M Stahl
Normal wound healing is a highly complex process that requires the interplay of various growth factors and cell types. Despite advancements in biomaterials, only a few bioactive wound dressings reach the clinical setting. The purpose of this research was to explore the feasibility of electrospinning a novel nanofibrous chitosan (CS)-fibrinogen (Fb) scaffold capable of sustained release of platelet-derived growth factor (PDGF) for the promotion of fibroblast migration and wound healing. CS-Fb scaffolds were successfully electrospun using a dual-spinneret electrospinner and directly evaluated for their physical, chemical, and biological characteristics...
April 2, 2018: Nanoscale Research Letters
https://www.readbyqxmd.com/read/29538527/genetic-syndromes-associated-with-congenital-cardiac-defects-and-ophthalmologic-changes-systematization-for-diagnosis-in-the-clinical-practice
#10
Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29520614/attentional-functioning-in-individuals-with-22q11-deletion-syndrome-insight-from-erps
#11
Daniela Mannarelli, Caterina Pauletti, Tommaso Accinni, Luca Carlone, Marianna Frascarelli, Guido Maria Lattanzi, Antonio Currà, Francesco Fattapposta
The 22q11 deletion syndrome (22q11DS), or DiGeorge syndrome (DG), is one of the most common genetic deletion syndromes. DG also carries a high risk for psychiatric disorders, with learning disabilities frequently being reported. Impairments in specific cognitive domains, such as executive functioning and attention, have also been described. The aim of this study was to investigate attentional functioning in a group of subjects with DG using ERPs, and in particular the P300 and CNV components. We studied ten patients with DG and ten healthy subjects that performed a P300 Novelty task and a CNV motor task...
March 8, 2018: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29455205/use-of-array-comparative-genomic-hybridization-for-the-diagnosis-of-digeorge-syndrome-in-saudi-arabian-population
#12
COMPARATIVE STUDY
Abeer A Bahamat, Mourad Assidi, Sahira A Lary, Muna M Almughamsi, Abdul A Peer Zada, Adeel Chaudhary, Adel Abuzenadah, Muhammad Abu-Elmagd, Mohammed Al-Qahtani
DiGeorge syndrome (DGS) is a genetic disorder known as a clinically variable syndrome with over 180 associated phenotypic features. It is caused by a common human deletion in the 22q11.2 chromosomal region and currently is affecting approximately 1 in 4,000 individuals. Despite the prevalence of inherited diseases mainly due to consanguineous marriages, the current diagnosis of DGS in Saudi Arabia is mainly based on conventional high-resolution chromosome banding (karyotyping) and FISH techniques. However, advanced genome-wide studies for detecting microdeletions or duplications across the whole genome are needed...
2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29362439/deletion-of-dgcr8-in-vsmcs-of-adult-mice-results-in-loss-of-vascular-reactivity-reduced-blood-pressure-and-neointima-formation
#13
Yanan Zou, Zixuan Chen, Brett L Jennings, Guannan Zhao, Qingqing Gu, Anindya Bhattacharya, Yan Cui, Bo Yu, Kafait U Malik, Junming Yue
DiGeorge syndrome chromosomal region 8 (DGCR8), a double-stranded-RNA-binding protein, participates in the miRNA biogenesis pathway and contributes to miRNA maturation by interacting with the RNAase III enzyme Drosha in cell nuclei. To investigate the role of DGCR8 in vascular smooth muscle cells (VSMCs) at the postnatal stages, we generated tamoxifen-inducible VSMC specific knockout (iKO) mice by crossing DGCR8loxp/loxp with VSMC specific tamoxifen-inducible Cre transgenic mice SMA-Cre-ERT2 . DGCR8iKO mice display reduced body weight one month following tamoxifen treatment and died around 3 months...
January 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29361080/deletion-size-analysis-of-1680-22q11-2ds-subjects-identifies-a-new-recombination-hotspot-on-chromosome-22q11-2
#14
Tingwei Guo, Alexander Diacou, Hiroko Nomaru, Donna M McDonald-McGinn, Matthew Hestand, Wolfram Demaerel, Liangtian Zhang, Yingjie Zhao, Francisco Ujueta, Jidong Shan, Cristina Montagna, Deyou Zheng, Terrence B Crowley, Leila Kushan-Wells, Carrie E Bearden, Wendy R Kates, Doron Gothelf, Maude Schneider, Stephan Eliez, Jeroen Breckpot, Ann Swillen, Jacob Vorstman, Elaine Zackai, Felipe Benavides Gonzalez, Gabriela M Repetto, Beverly S Emanuel, Anne S Bassett, Joris R Vermeesch, Christian R Marshall, Bernice E Morrow
Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D deletion, some have nested LCR22A-B or LCR22A-C deletions. Our goal is to identify additional recurrent 22q11.2 deletions associated with 22q11.2DS, serving as recombination hotspots for meiotic chromosomal rearrangements...
April 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29347911/micrornas-associated-with-early-neural-crest-development-in-xenopus-laevis
#15
Nicole J Ward, Darrell Green, Janet Higgins, Tamas Dalmay, Andrea Münsterberg, Simon Moxon, Grant N Wheeler
BACKGROUND: The neural crest (NC) is a class of transitory stem cell-like cells unique to vertebrate embryos. NC cells arise within the dorsal neural tube where they undergo an epithelial to mesenchymal transition in order to migrate and differentiate throughout the developing embryo. The derivative cell types give rise to multiple tissues, including the craniofacial skeleton, peripheral nervous system and skin pigment cells. Several well-studied gene regulatory networks underpin NC development, which when disrupted can lead to various neurocristopathies such as craniofrontonasal dysplasia, DiGeorge syndrome and some forms of cancer...
January 18, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29334651/effects-of-perinatal-fluoride-exposure-on-the-expressions-of-mir-124-and-mir-132-in-hippocampus-of-mouse-pups
#16
Jixiang Wang, Yuliang Zhang, Zhenzhen Guo, Rui Li, Xingchen Xue, Zilong Sun, Ruiyan Niu
To investigate the effects of perinatal fluoride exposure on learning and memory ability of mouse offspring, ICR female mice were received different doses of sodium fluoride (0, 25, 50, 100 mg/L NaF) from pregnant day 7 to lactational day 21. Pups were exposed to fluoride through the cord blood and breast milk. Open field test showed that compared to the control group, perinatal fluoride exposure significantly decreased the number of entries into the center zone in 100 mg/L NaF group. In the eight-arm maze test, the number of working memory errors, reference memory errors, and the total arm entries were significantly increased in fluoride treatment groups, compared to the control group...
April 2018: Chemosphere
https://www.readbyqxmd.com/read/29325785/characteristics-and-outcomes-of-children-with-ductal-dependent-congenital-heart-disease-and-esophageal-atresia-tracheoesophageal-fistula-a-multi-institutional-analysis
#17
Kriti Puri, Shaine A Morris, Carlos M Mery, Yunfei Wang, Brady S Moffett, Jeffrey S Heinle, J Ruben Rodriguez, Lara S Shekerdemian, Antonio G Cabrera
BACKGROUND: Extracardiac birth defects are associated with worse outcomes in congenital heart disease (CHD). The impact of esophageal atresia/trachea-esophageal fistula (EA/TEF) on outcomes after surgery for ductal-dependent CHD is unknown. METHODS: Retrospective matched cohort study using the Pediatric Health Information System database from 07/2004 to 06/2015. Hospitalizations with ductal-dependent CHD and EA/TEF, undergoing CHD surgery were included as cases...
April 2018: Surgery
https://www.readbyqxmd.com/read/29305086/the-candidate-schizophrenia-risk-gene-dgcr2-regulates-early-steps-of-corticogenesis
#18
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...
April 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29191731/characteristic-morphologies-of-the-bicuspid-aortic-valve-in-patients-with-genetic-syndromes
#19
Talha Niaz, Joseph T Poterucha, Timothy M Olson, Jonathan N Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J Hagler
BACKGROUND: In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. METHODS: The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016...
February 2018: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29178641/pediatric-healthcare-costs-for-patients-with-22q11-2-deletion-syndrome
#20
Peter Benn, Sushma Iyengar, Terrence Blaine Crowley, Elaine H Zackai, Evanette K Burrows, Solomon Moshkevich, Donna M McDonald-McGinn, Kathleen E Sullivan, Zachary Demko
BACKGROUND: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case. METHODS: We have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities...
November 2017: Molecular Genetics & Genomic Medicine
keyword
keyword
117177
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"