MARC details
| 000 -LEADER |
|---|
| fixed length control field |
02409nam a22002537a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
CH20160001 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20240720152920.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
170804b xxu||||| |||| 00| 0 eng d |
| 040 ## - CATALOGING SOURCE |
|---|
| Transcribing agency |
FEU-NRMF MEDICAL LIBRARY |
| 041 ## - LANGUAGE CODE |
|---|
| Language code of text/sound track or separate title |
English |
| 050 ## - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
CH20160001 |
| 100 ## - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Aquino, Emery Anne S., MD. |
| Relator term |
author |
| 245 ## - TITLE STATEMENT |
|---|
| Title |
"Catch-ing digeorge at 22" |
| Remainder of title |
a case report of a neonate considered with digeorge syndrome / |
| Statement of responsibility, etc. |
Emery Anne S. Aquino. |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
|---|
| Place of publication, distribution, etc. |
Fairview, Quezon City |
| Name of publisher, distributor, etc. |
Department of Child Health, FEU-NRMF, |
| Date of publication, distribution, etc. |
2016 |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Dimensions |
(in folder) |
| 336 ## - CONTENT TYPE |
|---|
| Content type term |
text |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
|---|
| Media type term |
unmediated |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
|---|
| Carrier type term |
volume |
| Source |
rdacarrier |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE |
|---|
| Bibliography, etc |
Includes bibliographical references. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
ABSTRACT: DiGeorge syndrome is listed as a "rare disease" by the Office of Rare diseases of the National Institutes of Health. It is a well-defined primary immunodeficiency disorder andis characterized by congenital heart defect, palatal or ear anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities (22q11.2 Deletion syndrome article, Elaine H Zackai, MD, et al., 2013). Described is a 1-day old neonate presented with tachypnea, with subcostal and intercostals retractions and crackles on both lung fields consistent with Neonatal Pneumonia and with further evaluation and examination, was considered with DiGeorge Syndrome based on her congenital heart disease- VSD, ASD, PDA and interrupted aortic arch. Facial dysmorphisms described as high and bridge nose, short palpebral fissure, underdeveloped right pinna facial asymmetry when crying and persistent hypocalcemia were as well noted. However, during the course in the ward, patient had recurrent pneumonia with associated congenital heart disease in failure that lead to demise of the patient. Currently still awaiting for result of Fluorescence In-situ Hybridization for confirmation. This case emphasizes the important of early recognition of the deletion, so that the treatment of involved organ anomalies can be initiated, screening for associated malformations performed and prevention of neuropsychological problems be provided. A multidisciplinary approach is fundamental to ensure that the patient will be able to attain his or her maximal potential and genetic counselling be emphasized as well. |
| 521 ## - TARGET AUDIENCE NOTE |
|---|
| Target audience note |
Research - Department of Child Health |
| 887 ## - NON-MARC INFORMATION FIELD |
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| Source of data |
RC-RC-022-16 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
Library of Congress Classification |
| Koha item type |
Theses |
