Results 31 to 40 of about 9,184 (168)

Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome

BMC Endocrine Disorders
Background DiGeorge syndrome is a common microdeletion disorder caused by deletion in the 22q11.2 region. It typically presents with immune dysfunction, parathyroid hypoplasia, and congenital heart defects. Testis-specific serine/threonine kinases (TSSKs)
Duygu Deligözoğlu, Gamze Mutlucan Köseoğlu, Esra Kılıç, Derya Tepe, Pınar Kocaay   +4 more
doaj   +1 more source

Selected forms of therapy of a child with DiGeorge syndrome. A case study

Journal of Modern Science
DiGeorge syndrome is a genetically determined birth defect syndrome with an estimated incidence of once every 3,000-5,000 births. Among the most characteristic symptoms are features of facial dysmorphia, abnormalities of intellectual development and ...
Edyta Ewelina Osękowska, Natalia Malik, Malwina Dąbek, Magdalena Maria Skalny   +3 more
doaj   +1 more source

Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

Case Reports in Pediatrics, 2016
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion
Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa   +3 more
doaj   +1 more source

Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report

Journal of the Formosan Medical Association, 2015
DiGeorge syndrome is not really a rare disease. A microdeletion of chromosome 22q11.2 is found in most patients. Sharing the same genetic cause, a wide spectrum of clinical manifestations such as conotruncal anomaly face syndrome, Cayler cardiofacial ...
Chih-Hsuan Fu, Cheung Leung, Chuan-Hong Kao, Shu-Jen Yeh   +3 more
doaj   +1 more source

Long non‐coding RNAs at the crossroads of inflammation, cancer and angiogenesis: Molecular mechanisms and their potential as therapeutic targets

British Journal of Pharmacology, EarlyView.
Long non‐coding RNAs (lncRNAs), a broad class of non‐protein‐coding RNAs, are characterized as new regulators of gene expression at the epigenetic, transcriptional, and post‐transcriptional level. Thus, lncRNAs are involved in the regulation of physiological processes and the development of human diseases and cancer by modulating proinflammatory ...
Charlie Leboff, Pamela Calle‐Mendoza, Maria Hatziapostolou, Christos Polytarchou   +3 more
wiley   +1 more source

Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1. [PDF]

PLoS ONE, 2012
The spectrum of human congenital malformations known as DiGeorge syndrome (DGS) is replicated in mice by mutation of Tbx1. Vegfa has been proposed as a modifier of DGS, based in part on the occurrence of comparable phenotypes in Tbx1 and Vegfa mutant ...
Jingjing Zhou, Mohammad Pashmforoush, Henry M Sucov   +2 more
doaj   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

Case Reports in Pediatrics, 2015
We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild ...
Gianluigi Laccetta, Benedetta Toschi, Antonella Fogli, Veronica Bertini, Angelo Valetto, Rita Consolini   +5 more
doaj   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Influence of Tracheostomy Level on Surgical Management of Pediatric Airway Stenosis

The Laryngoscope, Volume 136, Issue 9, Page 3907-3917, September 2026.
Tracheostomy location is a critical determinant of surgical complexity and outcomes in pediatric laryngotracheal stenosis. Misplacement may lead to longer tracheal resections, an increased need for stoma relocation, more complex reconstruction, and secondary stenosis. Strategic planning of tracheostomy position can improve surgical outcomes.
Alexandre Waldmeyer, Kishore Sandu, François Gorostidi   +2 more
wiley   +1 more source