MARC details
| 000 -LEADER |
|---|
| fixed length control field |
02656cam a2200325 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
EG-GiCUC |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
151119s2015 ua dh 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.2015.Di.R |
| 100 0# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Dina Mohamed Aly Elmaghraby |
| 245 14 - TITLE STATEMENT |
|---|
| Title |
The role of kcnj11 gene in neonatal diabetes / |
| Statement of responsibility, etc. |
Dina Mohamed Aly Elmaghraby ; Supervised Shereen Mahmoud Shawky , Mona Abdelkader Mohamed Awad , Soha Mahmoud Abdeldayem |
| 246 15 - VARYING FORM OF TITLE |
|---|
| Title proper/short title |
فى مرض البول السكرى فى الاطفال حديثى الولادةKCNJ11 دور جين |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
|---|
| Place of publication, distribution, etc. |
Cairo : |
| Name of publisher, distributor, etc. |
Dina Mohamed Aly Elmaghraby , |
| Date of publication, distribution, etc. |
2015 |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
118 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: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. It is a rare disease, occurring in only one in 100,000 to 300,000 live births. Infants with NDM do not produce enough insulin, leading to hyperglycemia. An identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell of the ATP sensitive potassium channel (KATP). The identification of KCNJ11 mutation has important therapeutic implications, as many patients can replace insulin injections with sulfonylurea tablets. Aim of work: This study aims to identify mutations in the KCNJ11 gene as a cause of permanent NDM in order to identify patients carrying this mutation and modify their treatment regimen. Methods: Sequencing the KCNJ11 gene in 17 Egyptian probands with permanent neonatal diabetes diagnosed with diabetes before the age of 2 years. Results: One case with a previously reported mutation in the KCNJ11 gene (p. R201H) was identified. The patient was successfully shifted from insulin therapy to sulfonylurea. Conclusion: NDM secondary to KCNJ11/Kir6.2 activating mutations has potentially important therapeutic consequences leading to transfering those patients from insulin therapy to sulfonylurea |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE |
|---|
| Additional physical form available note |
Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
KCNJ11 gene |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Monogenic |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Neonatal diabetes mellitus |
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Mona Abdelkader Mohamed Awad , |
| Relator term |
|
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Shereen Mahmoud Shawky , |
| Relator term |
|
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Soha Mahmoud Abdeldayem , |
| Relator term |
|
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) |
|---|
| Cataloger |
Nazla |
| Reviser |
Revisor |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) |
|---|
| Cataloger |
Soheir |
| Reviser |
Cataloger |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
Dewey Decimal Classification |
| Koha item type |
Thesis |
