2,637 results match your criteria DiGeorge Syndrome


DGCR5 promotes cancer stem cell-like properties of radioresistant laryngeal carcinoma cells by sponging miR-506 via Wnt pathway.

J Cell Physiol 2019 Apr 13. Epub 2019 Apr 13.

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

Cancer stem cells (CSCs) have been recognized as the significant cause of tumor recurrence. Long noncoding RNAs (lncRNAs) are involved in various cancers, including human laryngeal cancer. So far the correlation between lncRNA DiGeorge syndrome critical region gene 5 (DGCR5) and CSC-like properties in human laryngeal cancer remains barely known. Read More

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http://dx.doi.org/10.1002/jcp.28478DOI Listing
April 2019
1 Read

Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Answers.

Pediatr Nephrol 2019 Apr 8. Epub 2019 Apr 8.

Wilf Children's Hospital, Pediatric Department, Shaare Zedek Medical Center, Shmuel Bait Street 12, 9103102, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s00467-019-04243-5DOI Listing
April 2019
1 Read

Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Questions.

Pediatr Nephrol 2019 Apr 8. Epub 2019 Apr 8.

Wilf Children's Hospital, Pediatric Department, Shaare Zedek Medical Center, Shmuel Bait Street 12, 9103102, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s00467-019-04242-6DOI Listing
April 2019
1 Read

Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.

Front Immunol 2019 15;10:447. Epub 2019 Mar 15.

Division of Regenerative Medicine, Stem Cells and Gene Therapy, Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.

The thymus plays a fundamental role in establishing and maintaining central and peripheral tolerance and defects in thymic architecture or AIRE expression result in the development of autoreactive lymphocytes. Patients with partial DiGeorge Syndrome (pDGS) and Down Syndrome (DS) present alterations in size and architecture of the thymus and higher risk to develop autoimmunity. We sought to evaluate thymic architecture and thymocyte development in DGS and DS patients and to determine the extent to which thymic defects result in immune dysregulation and T cell homeostasis perturbation in these patients. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436073PMC
March 2019
3 Reads

All-cause mortality and survival in adults with 22q11.2 deletion syndrome.

Genet Med 2019 Apr 5. Epub 2019 Apr 5.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

Purpose: Given limited data available on long-term outcomes in 22q11.2 deletion syndrome (22q11.2DS), we investigated mortality risk in adults with this microdeletion syndrome. Read More

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http://dx.doi.org/10.1038/s41436-019-0509-yDOI Listing
April 2019
2 Reads

Surgical Outcomes for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome.

Otolaryngol Head Neck Surg 2019 Apr 2:194599819839958. Epub 2019 Apr 2.

2 Children's Minnesota, Minneapolis, Minnesota, USA.

This study aimed to compare outcomes of concomitant palatoplasty and sphincter pharyngoplasty with pharyngeal flap and sphincter pharyngoplasty alone for the treatment of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome. Thirty-one cases were identified for inclusion in the study. Read More

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http://dx.doi.org/10.1177/0194599819839958DOI Listing
April 2019
3 Reads

A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.

Cureus 2019 Jan 12;11(1):e3873. Epub 2019 Jan 12.

Pathology, University of Central Florida College of Medicine, Orlando, USA.

This review describes the clinical criteria of developmental delay (DD)/intellectual disability (ID) as well as the various techniques that are currently implemented to diagnose neurodevelopmental disorders that typically present with associated dysmorphic features such as Angelman syndrome, Prader-Willi syndrome, and DiGeorge syndrome. These analyses include various forms of chromosomal microarray (CMA), which have proven to be superior to previously implemented techniques such as G-banded karyotyping and fluorescent in situ hybridization (FISH) analysis, as well as whole exome sequencing (WES), which is implemented as a secondary examination when CMA analysis is unrevealing. The clinical significance of identified variants and how it relates to facilitating the management of specific genetic disorders such as the above mentioned is also discussed. Read More

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http://dx.doi.org/10.7759/cureus.3873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420327PMC
January 2019
1 Read

Efficacy of Vedolizumab for Inflammatory Bowel Disease in the Setting of DiGeorge Syndrome.

J Pediatr Gastroenterol Nutr 2019 Feb 20. Epub 2019 Feb 20.

Section of Gastroenterology, Hepatology and Nutrition, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA.

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http://dx.doi.org/10.1097/MPG.0000000000002322DOI Listing
February 2019
1 Read

Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11.

Morphologie 2019 Mar 15. Epub 2019 Mar 15.

Department of cytogenetics and clinical genetics, Limoges University Hospital, 87042 Limoges cedex, France; University Limoges, CNRS, XLIM, UMR 7252, 87000 Limoges, France. Electronic address:

The 6p terminal deletions are rare and usually early diagnosed because of their association with eye and cranio-facial anomalies, particularly as part of Axenfeld-Rieger syndrome in relation with the haploinsufficiency of FOXC1 gene. Deletions in the 22q11 region are frequent, highly correlated with DiGeorge syndrome also named CATCH22, and may be associated with many clinical features of various severities. We report a 31-year-old man with an unbalanced 45,XY,der(6)t(6;22)(p25;q11. Read More

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http://dx.doi.org/10.1016/j.morpho.2019.02.002DOI Listing
March 2019
1 Read

Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.

Genet Med 2019 Mar 4. Epub 2019 Mar 4.

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

Purpose: To assess the clinical performance of an expanded noninvasive prenatal screening (NIPS) test ("NIPS-Plus") for detection of both aneuploidy and genome-wide microdeletion/microduplication syndromes (MMS).

Methods: A total of 94,085 women with a singleton pregnancy were prospectively enrolled in the study. The cell-free plasma DNA was directly sequenced without intermediate amplification and fetal abnormalities identified using an improved copy-number variation (CNV) calling algorithm. Read More

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http://dx.doi.org/10.1038/s41436-019-0467-4DOI Listing
March 2019
2 Reads
7.329 Impact Factor

De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.

Cytogenet Genome Res 2019 Feb 16. Epub 2019 Feb 16.

This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. Several genetic tests were carried out to determine the origin of the clinical phenotype. MLPA was initially performed followed by aCGH, cytogenetic analysis, and FISH. Read More

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http://dx.doi.org/10.1159/000497173DOI Listing
February 2019
2 Reads

Characteristics and Outcomes of Heart Transplantation in DiGeorge Syndrome.

Pediatr Cardiol 2019 Apr 7;40(4):768-775. 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
April 2019
2 Reads

Pharyngeal pouch: comparison of surgical treatment with botulinum toxin injection to the cricopharyngeus.

Authors:
K Lau M G Watson

J Laryngol Otol 2019 Feb 6;133(2):125-128. Epub 2019 Feb 6.

Department of ENT,Doncaster Royal Infirmary,UK.

Background: Pharyngeal pouch surgical treatments can be carried out via an endoscopic or open approach. Injection of botulinum toxin into the cricopharyngeus was first described as an alternative treatment to the more invasive surgical procedures performed for cricopharyngeal dysfunction. It has not been previously described as a treatment option for pharyngeal pouch. Read More

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http://dx.doi.org/10.1017/S0022215119000124DOI Listing
February 2019
8 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
7 Reads

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

Pediatrics 2019 Feb;143(2)

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
February 2019
3 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
9 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
3 Reads

Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results.

Taiwan J Obstet Gynecol 2019 Jan;58(1):40-42

Genetics and Genome Sciences, UCONN Health, 263 Farmington Avenue, E3050, Farmington, CT, USA.

Objective: Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has bee expanded to include clinically-relevant microdeletions such as the 22q11.2 deletion syndrome (22q11.2DS). Read More

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http://dx.doi.org/10.1016/j.tjog.2018.11.006DOI Listing
January 2019
3 Reads

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
14 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
13 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
4 Reads

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.

Mol Genet Genomic Med 2019 02 4;7(2):e00507. Epub 2019 Jan 4.

Curtin Health Innovation Research Institute and Sarich Neuroscience Institute, Curtin University, Crawley, Western Australia, Australia.

Background: Chromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications between low copy repeats LCR22A to LCR22D. Atypical nested deletions and duplications are rarer and can provide a valuable opportunity to investigate the dosage effects of a smaller subset of genes within the 22q11. Read More

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http://doi.wiley.com/10.1002/mgg3.507
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http://dx.doi.org/10.1002/mgg3.507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393688PMC
February 2019
11 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
28 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
9 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
4 Reads

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
3 Reads

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 2019 Jul 4;234(7):11999-12010. 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
July 2019
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
5 Reads

Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism.

Eur Psychiatry 2019 01 16;55:116-121. Epub 2018 Nov 16.

The Child Psychiatry Division, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Israel; Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address:

Background: The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD. Read More

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http://dx.doi.org/10.1016/j.eurpsy.2018.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309675PMC
January 2019
20 Reads

Continuous performance test impairment in a 22q11.2 microdeletion mouse model: improvement by amphetamine.

Transl Psychiatry 2018 11 14;8(1):247. Epub 2018 Nov 14.

Neuroscience Institute, New York University Medical Center, New York, NY, USA.

The 22q11.2 deletion syndrome (22q11.2DS) confers high risk of neurodevelopmental disorders such as schizophrenia and attention-deficit hyperactivity disorder. Read More

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http://www.nature.com/articles/s41398-018-0295-3
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http://dx.doi.org/10.1038/s41398-018-0295-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235862PMC
November 2018
13 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
3 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
4 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
6 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
3 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
5 Reads

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

Cleft Palate Craniofac J 2019 May 30;56(5):658-669. 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
May 2019
5 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
22 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
18 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
9 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467273PMC
October 2018
14 Reads

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

J Pediatr 2019 01 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
15 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
21 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
14 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467269PMC
October 2018
5 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
5 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
167 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
4 Reads