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Identification of patients with 11Ý-hydroxylase deficiency among a group of patients of congenital adrenal hyperplasia with alleged 21-hydroxylase deficiency / (Record no. 75545)

MARC details
000 -LEADER
fixed length control field 03170cam a2200325 a 4500
003 - CONTROL NUMBER IDENTIFIER
control field EG-GiCUC
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 191130s2019 ua d f m 000 0 eng d
040 ## - CATALOGING SOURCE
Original cataloging agency EG-GiCUC
Language of cataloging eng
Transcribing agency EG-GiCUC
041 0# - LANGUAGE CODE
Language code of text/sound track or separate title eng
049 ## - LOCAL HOLDINGS (OCLC)
Holding library Deposite
097 ## - Thesis Degree
Thesis Level Ph.D
099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC)
Classification number Cai01.11.07.Ph.D.2019.He.I
100 0# - MAIN ENTRY--PERSONAL NAME
Personal name Heba Yehia Ahmed Asfour
245 10 - TITLE STATEMENT
Title Identification of patients with 11Ý-hydroxylase deficiency among a group of patients of congenital adrenal hyperplasia with alleged 21-hydroxylase deficiency /
Statement of responsibility, etc. Heba Yehia Ahmed Asfour ; Supervised Marianne Fathy Morgan , Yasmine Taha Elshiwy , Heba Nabil Elbaz
246 15 - VARYING FORM OF TITLE
Title proper/short title تحديد المرضى المصابين بنقص انزيم 11 يبتا هيدروكسيلاز فى مجموعة من المرضى مصابين بمتلازمة تضخم الغدة الكظرية و نقص انزيم 21 هيدروكسيلاز
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Place of publication, distribution, etc. Cairo :
Name of publisher, distributor, etc. Heba Yehia Ahmed Asfour ,
Date of publication, distribution, etc. 2019
300 ## - PHYSICAL DESCRIPTION
Extent 96 P. :
Other physical details charts , facsimiles ;
Dimensions 25cm
502 ## - DISSERTATION NOTE
Dissertation note Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
520 ## - SUMMARY, ETC.
Summary, etc. Background: Elevation of 17 hydroxyprogesterone (17OHP) is an important marker in diagnosis of congenital adrenal hyperplasia (CAH) due to deficiency of 21 hydroxylase enzyme, but its is also elevated in 5-8% of patients due to deficiency of 11 beta hydroxylase enzyme.11 deoxycortisol is elevated in 11 beta hydroxylase deficient patients but it is not routinely done so unfortunately accurate diagnosis may be missed.The aim of this study was to measure 11 deoxycortisol to the patients with elevated 17OHP, once with radioimmunoassay (RIA) and then repeat it with LC-MS/MS and compare between both methods. Also, another steroid was measured; 21 deoxycortisol using LC-MS/MS to detect its ability to discriminate between both conditions and if it is more beneficial to measure multiple steroids simultaneously. Patients and Methods: Samples from 144 patients were measured for 11 deoxycortisol using RIA.Trials were done to measure 11 deoxycortisol, 17OHP and 21 deoxycortisol using HPLC but failed. Fifty-two samples were randomly selected and measured for the previous 3 parameters using LC-MS/MS. Results: 11 deoxycortisol measured by LC-MS/MS identified patients with 11 beta hydroxylase deficiency among those with 21 hydroxylase deficiency (p=0.002). Moreover, it was highly predictive of 11 beta hydroxylase deficiency at a cutoff {u2265} 11 ng/ml with 100 % sensitivity and 92.3% specificity. Simultaneous measurement of 21 deoxycortisol and 11 deoxycortisol and their enrollment in an equation using logistic regression analysis yielded an overall predictive accuracy 96.8% for diagnosis of 11 beta hydroxylase deficiency and 21 deoxycortisol deficiency
530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE
Additional physical form available note Issued also as CD
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term 11 Deoxycortisol
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term 21Deoxycortisol
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term Congenital adrenal hyperplase
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Heba Nabil Elbaz ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Marianne Fathy Morgan ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Yasmine Taha Elshiwy ,
Relator term
905 ## - LOCAL DATA ELEMENT E, LDE (RLIN)
Cataloger Nazla
Reviser Revisor
905 ## - LOCAL DATA ELEMENT E, LDE (RLIN)
Cataloger Shimaa
Reviser Cataloger
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Source of classification or shelving scheme Dewey Decimal Classification
Koha item type Thesis
Holdings
Source of classification or shelving scheme Not for loan Home library Current library Date acquired Full call number Barcode Date last seen Koha item type Copy number
Dewey Decimal Classification   المكتبة المركزبة الجديدة - جامعة القاهرة قاعة الرسائل الجامعية - الدور الاول 11.02.2024 Cai01.11.07.Ph.D.2019.He.I 01010110080142000 22.09.2023 Thesis  
Dewey Decimal Classification   المكتبة المركزبة الجديدة - جامعة القاهرة مخـــزن الرســائل الجـــامعية - البدروم 11.02.2024 Cai01.11.07.Ph.D.2019.He.I 01020110080142000 22.09.2023 CD - Rom 80142.CD