Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Questions
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DOI: 10.1007/s00467-019-04242-6
Abstract: A 5-year-old girl with a background of DiGeorge syndrome presented with glomerulonephritis and nephrotic syndrome. She was diagnosed with an interrupted aortic arch that was corrected surgically at 3 days of life. At the age… read more here.
Keywords: glomerulonephritis nephrotic; blood; digeorge syndrome; syndrome ... See more keywords
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)
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DOI: 10.1007/s11882-018-0823-5
Abstract: Purpose of ReviewThis 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 FindingsClinically, the associated thymic hypoplasia/aplasia is… read more here.
Keywords: deletion; digeorge syndrome; 22q11 deletion; chromosome 22q11 ... See more keywords
Crossed pulmonary arteries and DiGeorge syndrome: case reports and literature review.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122000221
Abstract: DiGeorge syndrome has heterogeneous clinical presentation, and for this reason, its diagnosis can be challenging and may be missed. Since CHDs are very common in this patients, they can be considered pillars of clinical diagnosis… read more here.
Keywords: digeorge syndrome; case reports; pulmonary arteries; arteries digeorge ... See more keywords
Unique Considerations in the Treatment of Psychosis in DiGeorge Syndrome: A Case Report
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DOI: 10.1017/s1092852923001748
Abstract: Abstract Introduction DiGeorge Syndrome is a microdeletion of chromosome 22q11.2 and is most commonly de novo. Manifestations of DiGeorge are wide-spread including cardiac malformations, palatal abnormalities, intellectual disability, hypocalcemia, dysmorphic facial features, and psychiatric disorders… read more here.
Keywords: psychosis digeorge; digeorge syndrome; digeorge; treatment ... See more keywords
Overexpression of Drosha, DiGeorge syndrome critical region gene 8 (DGCR8), and Dicer mRNAs in the pathogenesis of psoriasis
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DOI: 10.1111/jocd.12336
Abstract: Psoriasis is a complex autoimmune inflammatory disease that occurs in genetically susceptible individuals and presents with the development of inflammatory plaques on the skin. Recent studies have indicated that microRNAs (miRNAs) play important roles in… read more here.
Keywords: syndrome critical; drosha digeorge; critical region; psoriasis ... See more keywords
Immune system defects in DiGeorge syndrome and association with clinical course
Sign Up to like & getrecommendations! Published in 2019 at "Scandinavian Journal of Immunology"
DOI: 10.1111/sji.12809
Abstract: We evaluated 18 DiGeorge syndrome (DGS) patients and aimed to investigate the immunological changes in this population. DGS patients with low naive CD4+T and CD8+T cells were defined as highârisk (HR) patients, whereas patients with… read more here.
Keywords: cd4 cd8; class switched; immune system; naive cd4 ... See more keywords
DiGeorge syndrome: consider the diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-245164
Abstract: DiGeorge syndrome (DGS) is caused by a chromosomal microdeletion at 22q11.2 that results in impaired development of the pharyngeal pouch system. Patients with DGS may have developmental abnormalities of craniofacial structures, parathyroid glands, thymus and… read more here.
Keywords: digeorge syndrome; digeorge; dgs; consider diagnosis ... See more keywords
Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-250350
Abstract: Genetic causes of hypocalcaemia can be overlooked in patients who present without apparent syndromic features. One relatively common but under-recognised genetic disorder is DiGeorge syndrome, which is often diagnosed in childhood but rarely in adulthood.… read more here.
Keywords: digeorge syndrome; digeorge; diagnosis; hypocalcaemia ... See more keywords
Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome.
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DOI: 10.1159/000519057
Abstract: OBJECTIVE DiGeorge syndrome (DGS) is associated with microdeletions of chromosome 22q11. It is the second most common cause of congenital heart disease and is an important consideration whenever a conotruncal cardiac anomaly is identified. The… read more here.
Keywords: prenatal testing; dgs; noninvasive prenatal; digeorge syndrome ... See more keywords
Cardiac rehabilitation in an adolescent with DiGeorge Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of physical and rehabilitation medicine"
DOI: 10.23736/s1973-9087.16.04408-7
Abstract: BACKGROUND DiGeorge Syndrome is a rare disease that has variable clinical symptoms resulting from 22q11 deletions, included cardiac abnormality, abnormal face and thymic aplasia, and cognitive impairment. There was a no reports regarding the efficiency… read more here.
Keywords: cardiac rehabilitation; adolescent digeorge; rehabilitation adolescent; rehabilitation ... See more keywords
Follicular Helper T Cells in DiGeorge Syndrome
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DOI: 10.3389/fimmu.2018.01730
Abstract: 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… read more here.
Keywords: cd4 cells; healthy controls; cells digeorge; follicular helper ... See more keywords