https://scholars.lib.ntu.edu.tw/handle/123456789/509256
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Liang P.-H. | en_US |
dc.contributor.author | Chen M.-R. | en_US |
dc.contributor.author | Shyur S.-D. | en_US |
dc.contributor.author | Lee Y.-J. | en_US |
dc.contributor.author | Lin S.-P. | en_US |
dc.contributor.author | Yu M.-T. | en_US |
dc.contributor.author | ING-SH CHIU | en_US |
dc.contributor.author | SHYH-JYE CHEN | en_US |
dc.creator | Liang P.-H.;Chen M.-R.;Shyur S.-D.;Lee Y.-J.;Lin S.-P.;Yu M.-T.;Chiu I.-S.;Shyh-Jye Chen | - |
dc.date.accessioned | 2020-07-07T05:19:46Z | - |
dc.date.available | 2020-07-07T05:19:46Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1608-8115 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/509256 | - |
dc.description.abstract | DiGeorge syndrome is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical facial dysmorphism. We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2 deletion. Transient lymphocytopenia was noted for 5 days after birth and hypocalcemia was corrected with calcium gluconate administration. Surgical. correction of the truncus arteriosus was performed at the age of 3 months. Unfortunately, the patient subsequently had an unwitnessed cardiac arrest, and despite resuscitation, died at the age of 4 months. | en_US |
dc.relation.ispartof | Acta Paediatrica Taiwanica | en_US |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | gluconate calcium; parathyroid hormone; article; case report; chromosome 22q; chromosome deletion; computer assisted tomography; cyanosis; DiGeorge syndrome; echocardiography; face dysmorphia; fluorescence in situ hybridization; heart arrest; heart murmur; human; hypocalcemia; hypoparathyroidism; infant; lymphocytopenia; male; patent ductus arteriosus; resuscitation; T lymphocyte; thymus disease; Chromosome Deletion; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Fatal Outcome; Heart Arrest; Humans; In Situ Hybridization, Fluorescence; Infant, Low Birth Weight; Infant, Newborn; Male; Truncus Arteriosus, Persistent | - |
dc.title | DiGeorge syndrome with truncus arteriosus: Report of one case | en_US |
dc.type | journal article | en |
dc.identifier.pmid | 15493739 | - |
dc.identifier.scopus | 2-s2.0-4644254303 | - |
dc.relation.pages | 174-177 | en_US |
dc.relation.journalvolume | 45 | en_US |
dc.relation.journalissue | 3 | en_US |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.grantfulltext | none | - |
crisitem.author.dept | Surgery-NTUH | - |
crisitem.author.dept | Surgery | - |
crisitem.author.dept | Radiology | - |
crisitem.author.dept | Medical Imaging-NTUH | - |
crisitem.author.orcid | 0000-0003-0508-4568 | - |
crisitem.author.orcid | 0000-0001-6181-011X | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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