Effect of homozygous, compound heterozygous and rare MEFV mutations on disease characters in Egyptian children with familial mediterranean fever / (Record no. 67410)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03326cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223032042.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 180910s2018 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 | M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.11.28.M.Sc.2018.Fa.E |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Fayrouz Saleh Abdelmoaty Abdelkhalik |
| 245 10 - TITLE STATEMENT | |
| Title | Effect of homozygous, compound heterozygous and rare MEFV mutations on disease characters in Egyptian children with familial mediterranean fever / |
| Statement of responsibility, etc. | Fayrouz Saleh Abdelmoaty Abdelkhalik ; Supervised Samia Salah Eldin Mahmoud , Sarah Samir Elrtatawy , Yomna Mohamed Farag |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | تأثير متماثل و مجمع الطفرات متخالف ونادر جين حمى البحر الأبيض المتوسط على خصائص المرض فى الأطفال المصريين المصابين بحمى البحر الأبيض المتوسط العائلية |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Fayrouz Saleh Abdelmoaty Abdelkhalik , |
| Date of publication, distribution, etc. | 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 122 P. : |
| Other physical details | charts , facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Background/aim: Familial Mediterranean fever (FMF) is charactarized by febrile episodes with sterile serositis. The aim of this study was to investigate the effect of homozygous, heterozygous,compound heterozygous and rare mutations on different disease manifestations, severity and response to treatment. Materials and methods: four hundred and ninety nine Egyptian children have FMF were included. They are being followed-up at Pediatric Rheumatology clinic, Specialized Children's hospital , Cairo university. Demographic data, clinical manifestations of the disease ,severity and response to treatment were assessed. MEFV gene mutations were recruited from patients files. Results: Two hundred and fourty four (48.9%) of patients had heterozygous mutations ,186 (37.3 %) had compound heterozygous mutations and 69 (13.8%) had homozygous. Eighty three ( 16.6%) of total patients had rare mutation. The 5 most common gene mutations were mutations V726A in 128(25.7%), E148Q in 95(19%), M694I in 76(13.4%), M680I in 62(12.4%), M694V in 55(11%) and the 1629del was the commenest among the rare mutations. Common gene mutations showed more affection with rash , oral ulcers while rare group showed more affection with convulsions with p value 0.028, 0.001 and 0.008 respectively. Amyloidosis was found associated with the M694V gene and common gene mutations only ( p =0.024) . More females were affected with rare mutations , while more males were affected with common mutations (p=0.024). Higher CRP and SAA associated with the common mutations with p value 0.002,0.002 respectively .Common mutations showed better response to treatment . Conclusion: Genotype of the disease may affect clinical manifestations |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Familial Mediterranean fever |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Genotype |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | MEFV |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Samia Salah Eldin Mahmoud , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarah Samir Elrtatawy , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yomna Mohamed Farag , |
| Relator term | |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="http://172.23.153.220/th.pdf">http://172.23.153.220/th.pdf</a> |
| 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 |
| 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 | Cai01.11.28.M.Sc.2018.Fa.E | 01010110075726000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.28.M.Sc.2018.Fa.E | 01020110075726000 | 22.09.2023 | CD - Rom | 75726.CD |