2,608 results match your criteria DiGeorge Syndrome


Characteristics and Outcomes of Heart Transplantation in DiGeorge Syndrome.

Pediatr Cardiol 2019 Feb 7. Epub 2019 Feb 7.

Pediatric Cardiology, Monroe Carell Jr. Children's Hospital, Nashville, TN, USA.

DiGeorge syndrome (DGS) is commonly associated with both congenital heart disease (CHD) and immunologic abnormalities. While CHD may prompt consideration for heart transplantation (HTx), little is known about HTx management or outcomes in this group. The aim of this study was to describe the spectrum of patients with DGS who undergo HTx and report post-HTx outcomes. Read More

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http://dx.doi.org/10.1007/s00246-019-02063-wDOI Listing
February 2019
2 Reads

Multicenter Analysis of Early Childhood Outcomes After Repair of Truncus Arteriosus.

Ann Thorac Surg 2019 Feb 26;107(2):553-559. Epub 2018 Oct 26.

Department of Pediatrics, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana.

Background: Literature describing morbidity and mortality after truncus arteriosus repair is predominated by single-center reports. We created and analyzed a multicenter dataset to identify risk factors for late mortality and right ventricle-to-pulmonary artery (RV-PA) conduit reintervention for this patient population.

Methods: We retrospectively collected data on children who underwent repair of truncus arteriosus without concomitant arch obstruction at 15 centers between 2009 and 2016. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00034975183152
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http://dx.doi.org/10.1016/j.athoracsur.2018.08.094DOI Listing
February 2019
6 Reads

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.

Pediatrics 2019 Jan 25. Epub 2019 Jan 25.

Department of Pediatrics, University of California, San Francisco and Benioff Children's Hospital, San Francisco, California;

Objectives: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Read More

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http://dx.doi.org/10.1542/peds.2018-2300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361357PMC
January 2019
2 Reads
5.473 Impact Factor

Prevalence of chromosomal abnormalities and 22q11.2 deletion in conotruncal and non-conotruncal antenatally diagnosed congenital heart diseases in a Chinese population.

Hong Kong Med J 2019 Feb 18;25(1):6-12. Epub 2019 Jan 18.

Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Shatin, Hong Kong.

Introduction: The aim of the present study was to calculate the prevalence of chromosomal abnormalities among antenatally diagnosed congenital heart diseases (CHDs), and the prevalence of 22q11.2 deletion in those with conotruncal CHDs versus isolated non-conotruncal CHDs.

Methods: All patients with antenatal ultrasound finding of fetal CHDs in two obstetric units in a 5-year period were retrospectively reviewed. Read More

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http://dx.doi.org/10.12809/hkmj187552DOI Listing
February 2019
4 Reads

lncRNA DGCR5 acts as a tumor suppressor in papillary thyroid carcinoma via sequestering miR-2861.

Exp Ther Med 2019 Jan 26;17(1):895-900. Epub 2018 Nov 26.

Department of Nuclear Medicine, Yunnan Tumor Hospital, Kunming, Yunnan 650118, P.R. China.

A vast amount of evidence indicates that long non-coding RNAs (lncRNAs) are involved in cancer. Previous studies have indicated that lncRNA DiGeorge syndrome critical region gene 5 (DGCR5) is aberrantly expressed in lung cancer, pancreatic ductal adenocarcinoma and hepatocellular carcinoma. However, the role of DGCR5 in papillary thyroid carcinoma (PTC) has remained elusive. Read More

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http://dx.doi.org/10.3892/etm.2018.7012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307399PMC
January 2019
1 Read

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

Am J Med Genet A 2019 Mar 9;179(3):404-409. Epub 2019 Jan 9.

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

The bladder exstrophy-epispadias complex (BEEC) comprises of a spectrum of anterior midline defects, all affecting the lower urinary tract, the external genitalia, and the bony pelvis. In extreme cases, the gastrointestinal tract is also affected. The pathogenesis of BEEC is unclear but chromosomal aberrations have been reported. Read More

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http://doi.wiley.com/10.1002/ajmg.a.61032
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http://dx.doi.org/10.1002/ajmg.a.61032DOI Listing
March 2019
6 Reads

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.

Hum Genet 2019 Jan 9;138(1):93-103. Epub 2019 Jan 9.

Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.

The 22q11.2 deletion syndrome (22q11.2DS) is caused by recurrent hemizygous deletions of chromosome 22q11. Read More

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http://link.springer.com/10.1007/s00439-018-01967-6
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http://dx.doi.org/10.1007/s00439-018-01967-6DOI Listing
January 2019
6 Reads

Insights into retinoic acid deficiency and the induction of craniofacial malformations and microcephaly in fetal alcohol spectrum disorder.

Genesis 2019 01 21;57(1):e23278. Epub 2019 Jan 21.

Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada, Faculty of Medicine, Hebrew University, Jerusalem, Israel.

Fetal Alcohol Spectrum Disorder (FASD) is a set of neurodevelopmental malformations caused by maternal consumption of alcohol during pregnancy. FASD sentinel facial features are unique to the disorder, and microcephaly is common in severe forms of FASD. Retinoic acid deficiency has been shown to cause craniofacial malformations and microcephaly in animal models reminiscent of those caused by prenatal alcohol exposure. Read More

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http://dx.doi.org/10.1002/dvg.23278DOI Listing
January 2019
2 Reads

Common Arterial Trunk: Physiology, Imaging, and Management.

Semin Cardiothorac Vasc Anesth 2018 Dec 29:1089253218821382. Epub 2018 Dec 29.

3 Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Common arterial trunk (CAT), or truncus arteriosus, is a rare form of cyanotic congenital heart disease and is highly associated with DiGeorge syndrome (microdeletion 22q11.2). Prenatal diagnosis is highly feasible, allowing proper delivery planning and postnatal management. Read More

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http://journals.sagepub.com/doi/10.1177/1089253218821382
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http://dx.doi.org/10.1177/1089253218821382DOI Listing
December 2018
10 Reads

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.

Am J Med Genet A 2019 Mar 24;179(3):381-385. Epub 2018 Dec 24.

Division of Urology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

The 22q11.2 deletion syndrome (22q11.2DS) involves multiple organ systems with variable phenotypic expression. Read More

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http://dx.doi.org/10.1002/ajmg.a.61020DOI Listing
March 2019
3 Reads

Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.

Immunol Rev 2019 Jan;287(1):186-201

The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly variable, making a unified approach difficult. Read More

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http://dx.doi.org/10.1111/imr.12701DOI Listing
January 2019
1 Read

Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns.

Int J Pediatr Otorhinolaryngol 2019 Jan 12;116:43-48. Epub 2018 Oct 12.

The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

Objective: To determine demographics and practice patterns of surgeons treating velopharyngeal dysfunction (VPD) in patients with 22q11.2 deletion syndrome (22q11.2DS). Read More

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http://dx.doi.org/10.1016/j.ijporl.2018.10.016DOI Listing
January 2019
1 Read

Knockdown of DGCR5 enhances the radiosensitivity of human laryngeal carcinoma cells via inducing miR-195.

J Cell Physiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Oncology, RenMin Hospital of Wuhan University, Wuhan, China.

Long noncoding RNAs (lncRNAs) exert critical roles in the development of various cancers, including human laryngeal cancer. Radioresistance contributes to the predominant causes of laryngeal cancer recurrence after radiotherapy. The aim of our study was to investigate the association of dysregulated lncRNA and radiation resistance in human larynx squamous carcinoma. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jcp.27958
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http://dx.doi.org/10.1002/jcp.27958DOI Listing
December 2018
1 Read

Long noncoding RNA DGCR5 suppresses gastric cancer progression by acting as a competing endogenous RNA of PTEN and BTG1.

J Cell Physiol 2018 Dec 4. Epub 2018 Dec 4.

Department of General Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang, China.

Long noncoding RNA (lncRNA) DiGeorge syndrome critical region gene 5 (DGCR5) has been reported to correlate with a variety of cancers, with its expression pattern and potential mechanism not clarified in gastric cancer (GC). In this study, we demonstrated that DGCR5 was downregulated in cancerous tissues and plasma samples from patients with GC, and its downregulation was associated with advanced TNM stage and positive lymphatic metastasis. Plasma DGCR5 had an area under the receiver operating characteristic curve (AUC) of 0. Read More

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http://dx.doi.org/10.1002/jcp.27861DOI Listing
December 2018
2 Reads
3.839 Impact Factor

Anomalous Fusion of Right Pulmonary Artery to Aortic Arch: Case Report of a Rare and Fatal Congenital Malformation in a Newborn and a Literature Review.

Am J Case Rep 2018 Nov 28;19:1416-1421. Epub 2018 Nov 28.

Department of Medical, Oral and Biotechnological Sciences, University 'G. d'Annunzio' of Chieti-Pescara, Chieti, Italy.

BACKGROUND We present a report of a rare cardiac malformation case as well as a review of the literature. In addition, the diagnostic features are discussed. CASE REPORT The case of a female newborn who died on her third day of life was studied at the Institute of Legal Medicine, University of Chieti-Pescara (Italy). Read More

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https://www.amjcaserep.com/abstract/index/idArt/909749
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http://dx.doi.org/10.12659/AJCR.909749DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280717PMC
November 2018
4 Reads

22q11.2 deletion detected by hybridization in Mexican patients with velocardiofacial syndrome-like features.

Colomb Med (Cali) 2018 Sep 30;49(3):219-222. Epub 2018 Sep 30.

División de Genética - CIBO. Instituto Mexicano del Seguro Social, Guadalajara, México.

Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies. Read More

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http://dx.doi.org/10.25100/cm.v49i2.3402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220481PMC
September 2018
2 Reads

Clozapine-induced myocarditis in an adolescent male with DiGeorge Syndrome.

Ment Health Clin 2018 Nov 1;8(6):313-316. Epub 2018 Nov 1.

Clinical Pharmacy Specialist, Pediatric Intensive Care and Cardiology/Heart Transplant, The Johns Hopkins Hospital, Baltimore, Maryland.

DiGeorge Syndrome (22q11.2 deletion syndrome) is a chromosomal disorder associated with both congenital heart malformations and schizophrenia, which is often treatment-resistant and may warrant treatment with clozapine. Clozapine-induced myocarditis (CIM) is a rare complication of clozapine therapy, with a reported incidence ranging from 0. Read More

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http://dx.doi.org/10.9740/mhc.2018.11.313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213892PMC
November 2018
3 Reads

Molecular genetics of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Oct;176(10):2070-2081

Institute of Child Health, University College London, London, UK.

The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40504
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http://dx.doi.org/10.1002/ajmg.a.40504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214629PMC
October 2018
5 Reads

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Oct;176(10):2167-2171

Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Hypocalcemia has been reported in ~50% of patients 22q11.2DS and calcium regulation is known to play a role in neuronal development and synaptic plasticity. Because calcium ions play a role in neuronal function and development, we hypothesized that hypocalcemia would be associated with adverse effects on full scale IQ index (FSIQ) in patients with 22q11. Read More

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http://dx.doi.org/10.1002/ajmg.a.40535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214204PMC
October 2018
2 Reads

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Curr Allergy Asthma Rep 2018 Oct 30;18(12):75. Epub 2018 Oct 30.

Department of Pathology, Division of Genomic Medicine, Children's Hospital Los Angeles, USC Keck School of Medicine, 4650 Sunset Blvd, Los Angeles, CA, 90027, USA.

Purpose Of Review: This review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.

Recent Findings: Clinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. Further, the humoral arm of the immune system can be affected, with hypogammaglobulinemia and poor vaccine-specific antibody response. Read More

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http://dx.doi.org/10.1007/s11882-018-0823-5DOI Listing
October 2018
4 Reads

A Bibliometric Analysis of Cleft Lip and Palate-Related Publication Trends From 2000 to 2017.

Cleft Palate Craniofac J 2018 Oct 30:1055665618807822. Epub 2018 Oct 30.

1 Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, China.

Objective:: Cleft lip and palate (CLP) is the most common human cranial and maxillofacial birth defect. The aim of this bibliometric analysis was to provide an overview of the development of CLP-related research.

Method:: Cleft lip and palate-related studies published from 2000 to 2017 were retrieved from the Science Citation Index Expanded core database. Read More

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http://dx.doi.org/10.1177/1055665618807822DOI Listing
October 2018
4 Reads

Schizophrenia in DiGeorge Syndrome: A Unique Case Report.

Cureus 2018 Aug 14;10(8):e3142. Epub 2018 Aug 14.

Behavioral Health, Kings County Hospital Center, New York, USA.

Herein we present the unique case of a 21-year-old African American woman who presented with psychotic features and the incidental finding of basal ganglia calcifications on computed tomography (CT) scan of the head. She was initially presumed to have Fahr's syndrome in the context of idiopathic bilateral basal ganglia calcifications and psychotic features. Genetic testing performed revealed the deletion of 22q11. Read More

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http://dx.doi.org/10.7759/cureus.3142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188160PMC
August 2018
15 Reads

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells.

Reprod Sci 2018 Oct 16:1933719118804416. Epub 2018 Oct 16.

1 Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, Xi'an, China.

Objective: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes.

Methods: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation. Read More

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http://dx.doi.org/10.1177/1933719118804416DOI Listing
October 2018
11 Reads

Sepiapterin alleviates impaired gastric nNOS function in spontaneous diabetic female rodents through NRF2 mRNA turnover and miRNA biogenesis pathway.

Am J Physiol Gastrointest Liver Physiol 2018 Dec 4;315(6):G980-G990. Epub 2018 Oct 4.

Department of Oral Diagnostic Sciences and Research, School of Dentistry, Meharry Medical College , Nashville, Tennessee.

An impaired nitrergic system and altered redox signaling contribute to gastric dysmotility in diabetics. Our earlier studies show that NF-E2-related factor 2 (NRF2) and phase II antioxidant enzymes play a vital role in gastric neuronal nitric oxide synthase (nNOS) function. This study aims to investigate whether supplementation of sepiapterin (SEP), a precursor for tetrahydrobiopterin (BH) (a cofactor of NOS) via the salvage pathway, restores altered nitrergic systems and redox balance in spontaneous diabetic (DB) female rats. Read More

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https://www.physiology.org/doi/10.1152/ajpgi.00152.2018
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http://dx.doi.org/10.1152/ajpgi.00152.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336949PMC
December 2018
8 Reads

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Oct 1;176(10):2099-2103. Epub 2018 Oct 1.

Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Hypocalcemia is one of the cardinal features of the chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40495
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http://dx.doi.org/10.1002/ajmg.a.40495DOI Listing
October 2018
13 Reads

Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.

J Pediatr 2019 Jan 26;204:219-224.e1. Epub 2018 Sep 26.

Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Renai Branch, Taipei City Hospital, Taipei, Taiwan. Electronic address:

Objective: Based on experiences and results from newborn screening for severe combined immunodeficiency (SCID), we evaluated the occurrence of chromosome 22q11.2 deletion syndrome (22q11.2DS) in newborns with different T cell receptor excision circles (TREC) results and established a second tier genetic test for 22q11. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.08.072DOI Listing
January 2019
13 Reads

Hyper IgE syndromes: clinical and molecular characteristics.

Immunol Cell Biol 2018 Sep 28. Epub 2018 Sep 28.

Seattle Children's Research Institute, Seattle, Washington, USA.

Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. However, several other genetically characterized immunodeficiency disorders have been identified over the past decade and joined the umbrella of hyper IgE syndromes including autosomal recessive mutations in the DOCK8, ZNF431 and PGM3 genes and heterozygous mutations with dominant negative effect in the CARD11 gene. Read More

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http://dx.doi.org/10.1111/imcb.12209DOI Listing
September 2018
2 Reads

Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report.

S Afr J Psychiatr 2018 21;24:1164. Epub 2018 Feb 21.

Department of Psychiatry, University of Botswana, Botswana.

DiGeorge syndrome (DGS) was first described in 1829 by Dr Angelo DiGeorge. DGS is a cluster of symptoms because of a defect in the development of the pharyngeal pouch. Evidence from cytogenetic studies has linked the pathogenesis of DGS with a deletion of a gene located in chromosome 22-band 22q11. Read More

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http://dx.doi.org/10.4102/sajpsychiatry.v24.i0.1164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138118PMC
February 2018
13 Reads

Defective Vagal Innervation in Murine Mutant Hearts.

J Cardiovasc Dev Dis 2018 Sep 23;5(4). Epub 2018 Sep 23.

UCL Great Ormond Street-Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

Haploinsufficiency of the T-box transcription factor is responsible for many features of 22q11.2 deletion syndrome. is expressed dynamically in the pharyngeal apparatus during mouse development and homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest cell defects. Read More

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http://dx.doi.org/10.3390/jcdd5040049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306933PMC
September 2018
8 Reads

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Am J Med Genet A 2018 Oct 23;176(10):2203-2214. Epub 2018 Sep 23.

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000-4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due to additional genome-wide mutations, CNVs, or mutations/CNVs on the other allele, unmasking autosomal recessive conditions. Read More

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http://dx.doi.org/10.1002/ajmg.a.40494DOI Listing
October 2018
4 Reads

Upregulation of lncRNA DGCR5 correlates with better prognosis and inhibits bladder cancer progression via transcriptionally facilitating P21 expression.

J Cell Physiol 2019 May 21;234(5):6254-6262. Epub 2018 Sep 21.

Department of Urinary Surgery, Shanghai Ruijin Hospital, Shanghai, China.

Mounting studies show that long noncoding RNAs (lncRNAs) could affect human cancer progression, including bladder cancer (BCa). LncRNA DiGeorge syndrome critical region gene 5 (DGCR5) has been proven to be involved in lung cancer, pancreatic ductal adenocarcinoma, and hepatocellular carcinoma. However, the function of DGCR5 in BCa remains largely unknown. Read More

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http://dx.doi.org/10.1002/jcp.27356DOI Listing
May 2019
4 Reads

unbalanced translocation t(15;22)(q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature.

Exp Ther Med 2018 Oct 16;16(4):3589-3595. Epub 2018 Aug 16.

Department of Functional Sciences, Victor Babeș University of Medicine and Pharmacy, 300173 Timisoara, Romania.

The present study reports the case of a 3-h old male with a unbalanced t(15;22) translocation and velo-cardio-facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G-banding demonstrated a 45,XY,-22,der (15),t(15;22)(q26. Read More

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http://dx.doi.org/10.3892/etm.2018.6609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143868PMC
October 2018
133 Reads
0.941 Impact Factor

Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism.

Neurol India 2018 Sep-Oct;66(5):1370-1376

Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Background: A retrospective analysis using chromosomal microarray in syndromic patients with intellectual disability from genetic clinics of a tertiary healthcare center in India was conducted.

Aim: To identify the spectrum of chromosomal abnormalities detected on microarray analysis.

Settings And Design: Cases were identified among those with intellectual disability with dysmorphism attending genetic clinics of a tertiary care center. Read More

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http://dx.doi.org/10.4103/0028-3886.241346DOI Listing
September 2018
3 Reads

Dental management of a patient with 22q11.2 deletion syndrome (22q11.2DS).

BMJ Case Rep 2018 Sep 18;2018. Epub 2018 Sep 18.

Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia.

22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with an incidence of approximately 1/2000-1/4000 live births; it is thought to be mainly attributable to a de novo deletion. Read More

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http://dx.doi.org/10.1136/bcr-2018-225765DOI Listing
September 2018
6 Reads

Long noncoding RNA DGCR5 represses hepatocellular carcinoma progression by inactivating Wnt signaling pathway.

J Cell Biochem 2019 Jan 19;120(1):275-282. Epub 2018 Sep 19.

Department of General Surgery, Lianshui County People's Hospital, Huai'an, China.

Increasing studies have indicated that long noncoding RNAs (lncRNAs) exert important roles in hepatocellular carcinoma (HCC). Therefore, it is of great significance to identify the dysregulated lncRNAs in HCC. According to the previous reports, it has been suggested that DiGeorge syndrome critical region gene 5 (DGCR5) might participate in HCC and can serve as potential biomarker for HCC. Read More

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http://dx.doi.org/10.1002/jcb.27342DOI Listing
January 2019
2 Reads

Trajectories of psychiatric diagnoses and medication usage in youth with 22q11.2 deletion syndrome: a 9-year longitudinal study.

Psychol Med 2018 Sep 18:1-9. Epub 2018 Sep 18.

Departments of Psychiatry and Behavioral Sciences,State University of New York at Upstate Medical University,Syracuse, New York,USA.

Background: Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with high rates of psychiatric disorders, including schizophrenia in up to 30% of individuals with the syndrome. Despite this, we know relatively little about trajectories and predictors of persistence of psychiatric disorders from middle childhood to early adulthood. Read More

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http://dx.doi.org/10.1017/S0033291718002696DOI Listing
September 2018
3 Reads

Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.

J Clin Lab Anal 2018 Sep 17:e22660. Epub 2018 Sep 17.

Department of Medical Genetics, Liuzhou Maternal and Children Healthcare Hospital, Liuzhou, China.

Background: Congenital heart disease (CHD) is a common birth defect originating from both environmental and genetic factors. An overabundance of copy number variations (CNVs) affecting cardiac-related genes has previously been detected in individuals with CHD.

Objective: To evaluate if the presence of CNVs in the 22q11. Read More

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http://doi.wiley.com/10.1002/jcla.22660
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http://dx.doi.org/10.1002/jcla.22660DOI Listing
September 2018
5 Reads

Pineoblastoma in a child with 22q11.2 deletion syndrome.

BMJ Case Rep 2018 Sep 14;2018. Epub 2018 Sep 14.

Department of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22643
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http://dx.doi.org/10.1136/bcr-2018-226434DOI Listing
September 2018
11 Reads

LncRNA DGCR5 represses the development of hepatocellular carcinoma by targeting the miR-346/KLF14 axis.

J Cell Physiol 2018 Jan 14;234(1):572-580. Epub 2018 Sep 14.

Imaging Department, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Long non-coding RNAs (lncRNAs) are a class of regulatory noncoding RNAs. Emerging evidence highlights the critical roles of lncRNAs in the progression of hepatocellular carcinoma (HCC). Although many lncRNAs have been identified in the development of HCC, the association between DiGeorge syndrome critical region gene 5 (DGCR5) and HCC remains unclear. Read More

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http://dx.doi.org/10.1002/jcp.26779DOI Listing
January 2018
3 Reads

Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.

Am J Med Genet A 2018 Oct 12;176(10):2128-2134. Epub 2018 Sep 12.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. Read More

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http://dx.doi.org/10.1002/ajmg.a.40518DOI Listing
October 2018
2 Reads

Deletion of 22q11 chromosome is associated with postoperative morbidity after unifocalisation surgery.

Cardiol Young 2019 Jan 30;29(1):19-22. Epub 2018 Aug 30.

1Division of Pediatric Cardiology,Stanford Hospital and Clinics,Stanford,CA,USA.

Background: A 22q11 chromosome deletion is common in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals. We sought to determine whether 22q11 chromosome deletion is associated with increased postoperative morbidity after unifocalisation surgery.

Methods: We included all patients with this diagnosis undergoing primary or revision unifocalisation ± ventricular septal defect closure at our institution from 2008 to 2016, and we excluded patients with unknown 22q11 status. Read More

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http://dx.doi.org/10.1017/S1047951118001427DOI Listing
January 2019
4 Reads

Deletion of the T-box transcription factor gene, Tbx1, in mice induces differential expression of genes associated with cleft palate in humans.

Arch Oral Biol 2018 Nov 9;95:149-155. Epub 2018 Aug 9.

Life Science Center of Tsukuba Advanced Research Alliance, University of Tsukuba, Tsukuba 305-8577, Japan.

Objective: We examined the function of the T-box transcription factor 1 (TBX1) in palatogenesis.

Design: Tbx1-knockout mice were histologically examined by hematoxylin and eosin staining. Next, secondary palatal shelves dissected from wild type or Tbx1-knockout mice embryos at embryonic day 13. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00039969183028
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http://dx.doi.org/10.1016/j.archoralbio.2018.08.001DOI Listing
November 2018
20 Reads

Follicular Helper T Cells in DiGeorge Syndrome.

Front Immunol 2018 23;9:1730. Epub 2018 Jul 23.

Department of Immunology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia.

DiGeorge syndrome is an immunodeficiency characterized by thymic dysplasia resulting in T cell lymphopenia. Most patients suffer from increased susceptibility to infections and heightened prevalence of autoimmune disorders, such as autoimmune thrombocytopenia. B cells in DiGeorge syndrome show impaired maturation, with low switched-memory B cells and a wide spectrum of antibody deficiencies or dysgammaglobulinemia, presumably due to impaired germinal center responses. Read More

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http://dx.doi.org/10.3389/fimmu.2018.01730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6065053PMC
July 2018
5 Reads

Novel heterozygous mutation in in an infant with hypocalcemic seizures.

Clin Pediatr Endocrinol 2018 31;27(3):159-164. Epub 2018 Jul 31.

Department of Pediatrics, Okayama University Hospital, Okayama, Japan.

Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11. Read More

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http://dx.doi.org/10.1297/cpe.27.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073064PMC
July 2018
5 Reads

Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome.

Cell Rep 2018 Jul;24(5):1342-1354.e5

Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA; Harvard Medical School, Boston, MA 02115, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA. Electronic address:

Microdeletions involving TBX1 result in variable congenital malformations known collectively as 22q11.2 deletion syndrome (22q11.2DS). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183107
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http://dx.doi.org/10.1016/j.celrep.2018.06.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261257PMC
July 2018
6 Reads

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Aug 28;176(8):1735-1741. Epub 2018 Jul 28.

Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11. Read More

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http://dx.doi.org/10.1002/ajmg.a.38665DOI Listing
August 2018
14 Reads

22q11.2 Deletion: Surgical and Speech Outcomes of Patients With Velopharyngeal Insufficiency Treated With a Superiorly Based Pharyngeal Flap as the Primary Surgery.

J Craniofac Surg 2018 Sep;29(6):1480-1485

Plastic Surgery Unit, Alfredo Gantz Mann Foundation.

The most frequent palate diagnoses in patients with chromosome 22q11.2 deletion syndrome are a classic submucous cleft, occult, and velopharyngeal insufficiency without cleft, which generates alterations in speech that require surgery. Surgical protocols are controversial owing to syndrome characteristics that make their handling more complex. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004859DOI Listing
September 2018
3 Reads

Noncanonical functions of microRNA pathway enzymes - Drosha, DGCR8, Dicer and Ago proteins.

FEBS Lett 2018 Sep 13;592(17):2973-2986. Epub 2018 Aug 13.

Sir William Dunn School of Pathology, University of Oxford, UK.

MicroRNAs (miRNAs) are small regulatory noncoding RNAs that are generated in the canonical RNA interference (RNAi) pathway. Drosha, DiGeorge syndrome critical region 8 (DGCR8) and Dicer are key players in miRNA biogenesis. Argonaute (Ago) proteins bind to miRNAs and are guided by them to find messenger RNA targets and carry out post-transcriptional silencing of protein-coding genes. Read More

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http://dx.doi.org/10.1002/1873-3468.13196DOI Listing
September 2018
2 Reads

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field.

Hum Mol Genet 2018 11;27(21):3747-3760

Aix-Marseille Univ, CNRS UMR 7288, IBDM, Marseille, France.

The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt-Oram syndromes. These regions of the heart are derived from late differentiating cardiac progenitor cells of the Second Heart Field (SHF) located in pharyngeal mesoderm contiguous with the elongating heart tube. Read More

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http://dx.doi.org/10.1093/hmg/ddy266DOI Listing
November 2018
21 Reads