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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
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
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...
February 17, 2018: Cytogenetic and Genome Research
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
Tingwei Guo, Alexander Diacou, Nomaru Hiroko, 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 Gonzalez Benavides, 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...
January 18, 2018: Human Molecular Genetics
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
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...
January 8, 2018: Chemosphere
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...
January 8, 2018: Surgery
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...
November 21, 2017: Biological Psychiatry
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
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
Gabriella Lania, Alberto Bresciani, Monica Bisbocci, Alessandra Francone, Vincenza Colonna, Sergio Altamura, Antonio Baldini
No abstract text is available yet for this article.
November 15, 2017: Human Molecular Genetics
Hui-Xing Dong, Ren Wang, Jian Zeng, Jing Pan
Long non-coding RNAs (lncRNAs) serve critical roles in the pathogenesis of various cancers, including lung adenocarcinoma (LUAD). Herein, in this study, we aimed to investigate the biological and clinical significance of lncRNA DiGeorge syndrome critical region gene 5 (DGCR5) in LUAD. It was observed that DGCR5 was upregulated in LUAD tissues and LUAD cell lines. Inhibition of DGCR5 can prevent LUAD progression via playing anti-apoptosis roles. Both mRNA expression and protein levels of BCL-2 were increased by DGCR5 downregulation while reversely BAX was increased...
October 14, 2017: Journal of Cellular Physiology
Tingwei Guo, Gabriela M Repetto, Donna M McDonald McGinn, Jonathan H Chung, Hiroko Nomaru, Christopher L Campbell, Anna Blonska, Anne S Bassett, Eva W C Chow, Elisabeth E Mlynarski, Ann Swillen, Joris Vermeesch, Koen Devriendt, Doron Gothelf, Miri Carmel, Elena Michaelovsky, Maude Schneider, Stephan Eliez, Stylianos E Antonarakis, Karlene Coleman, Aoy Tomita-Mitchell, Michael E Mitchell, M Cristina Digilio, Bruno Dallapiccola, Bruno Marino, Nicole Philip, Tiffany Busa, Leila Kushan-Wells, Carrie E Bearden, Małgorzata Piotrowicz, Wanda Hawuła, Amy E Roberts, Flora Tassone, Tony J Simon, Esther D A van Duin, Thérèse A van Amelsvoort, Wendy R Kates, Elaine Zackai, H Richard Johnston, David J Cutler, A J Agopian, Elizabeth Goldmuntz, Laura E Mitchell, Tao Wang, Beverly S Emanuel, Bernice E Morrow
BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest subset of severe congenital heart disease in the cohort. METHODS AND RESULTS: To identify common genetic variants associated with TOF in individuals with 22q11...
October 2017: Circulation. Cardiovascular Genetics
Marilia Pyles P Kanegae, Lucila Akune Barreiros, Jusley Lira Sousa, Marco Antônio S Brito, Edgar Borges de Oliveira, Lara Pereira Soares, Juliana Themudo L Mazzucchelli, Débora Quiorato Fernandes, Sonia Marchezi Hadachi, Silvia Maia Holanda, Flavia Alice T M Guimarães, Maura Aparecida P V V Boacnin, Marley Aparecida L Pereira, Joaquina Maria C Bueno, Anete Sevciovic Grumach, Regina Sumiko W Di Gesu, Amélia Miyashiro N Dos Santos, Newton Bellesi, Beatriz T Costa-Carvalho, Antonio Condino-Neto
OBJECTIVE: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil. METHODS: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating characteristic curve analysis using SPSS software (IBM®, Armonk, NY, USA)...
January 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
Michele P Lambert, Abinaya Arulselvan, Amanda Schott, Stephen J Markham, Terrance B Crowley, Elaine H Zackai, Donna M McDonald-McGinn
The 22q11.2 deletion syndrome (DS) is associated with variable phenotypic expression as findings range from severely affected individuals with the classical triad of DiGeorge and velocardiofacial syndromes, including congenital heart disease, immunodeficiency, hypocalcemia, and palatal abnormalities, to subtly affected adults who only come to attention following the diagnosis of a more severely affected child. The multiple manifestations can affect all organ systems, including the hematologic system resulting in baseline lower platelet counts for individuals with 22q11...
September 22, 2017: American Journal of Medical Genetics. Part A
Léa C Perret, Marc-Antoine Lodovighi, Odile Perret, El Chérif Ibrahim, Nicole Philip, Jean-Michel Azorin, Raoul Belzeaux
No abstract text is available yet for this article.
September 18, 2017: Journal of Clinical Psychopharmacology
Dala Zakaria, Xinyu Tang, Rupal Bhakta, Nahed O ElHassan, Parthak Prodhan
Patients with hypoplastic left heart syndrome (HLHS) can have associated genetic abnormalities. This study evaluated the incidence of genetic abnormalities among infants with HLHS and the short-term outcomes of this population during the first hospitalization. This is a retrospective analysis of the multi-center Pediatric Heath Information System database of infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013. We compared clinical data between infants with and without genetic abnormality, among the three most common chromosomal abnormalities, and between survivors and non-survivors...
September 18, 2017: Pediatric Cardiology
Chiara Verdelli, Laura Avagliano, Vito Guarnieri, Filomena Cetani, Stefano Ferrero, Leonardo Vicentini, Edoardo Beretta, Alfredo Scillitani, Pasquale Creo, Gaetano Pietro Bulfamante, Valentina Vaira, Sabrina Corbetta
Transcription factors active in embryonic parathyroid cells can be maintained in adult parathyroids and be involved in tumorigenesis. TBX1, the candidate gene of 22q11.2-DiGeorge syndrome, which includes congenital hypoparathyroidism, is involved in parathyroid embryogenesis. The study aimed to investigate expression, function, and regulation of the parathyroid embryonic transcription factor TBX1 in human parathyroid adult normal and tumor tissues. TBX1 transcripts were detected in normal parathyroids and were deregulated in parathyroid tumors...
December 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
Lotte Møller Smedegaard, Claus Bohn Christiansen, Linea Cecilie Melchior, Anja Poulsen
INTRODUCTION: Chickenpox is caused by varicella zoster virus (VZV). Although predominantly a mild disease, it can cause considerable morbidity and in rare occasions even mortality in healthy children as well as increased morbidity and mortality in immunocompromised patients. The aetiology of appendicitis is largely unknown but is thought to be multifactorial. Appendicitis is a suspected, but not well documented, complication from varicella zoster virus infection. CASE PRESENTATION: A five-year-old girl diagnosed with DiGeorge syndrome and a prolonged primary VZV infection was admitted due to abdominal pain, increasing diarrhoea, vomiting, and poor general condition...
2017: Case Reports in Pediatrics
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