TNFRSF1A polymorphisms and their role in familial and non-familial multiple sclerosis susceptibility and severity in a cohort of Egyptian population / (Record no. 174860)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 05788namaa22004571i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - أخر تعامل مع التسجيلة | |
| control field | 20251014132358.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 251014s2025 ua a|||frm||| 000 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloguing agency | EG-GICUC |
| Language of cataloging | eng |
| Transcribing agency | EG-GICUC |
| Modifying agency | EG-GICUC |
| Description conventions | rda |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| Language code of summary or abstract | eng |
| -- | ara |
| 049 ## - Acquisition Source | |
| Acquisition Source | Deposit |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.834 |
| 092 ## - LOCALLY ASSIGNED DEWEY CALL NUMBER (OCLC) | |
| Classification number | 616.834 |
| Edition number | 21 |
| 097 ## - Degree | |
| Degree | Ph.D |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Local Call Number | Cai01.11.20.Ph.D.2024.Ah.T |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Authority record control number or standard number | Ahmed Shawky Abdelmonem, |
| Preparation | preparation. |
| 245 10 - TITLE STATEMENT | |
| Title | TNFRSF1A polymorphisms and their role in familial and non-familial multiple sclerosis susceptibility and severity in a cohort of Egyptian population / |
| Statement of responsibility, etc. | by Ahmed Shawky Abdelmonem ; Supervised Prof. Dr. Maged Mohamed Abdel Naseer, Prof. Dr. Montaser Moawad Hegazy, Dr. Karim Mohamed Abd Elfattah Ali, Dr. Hala Ashraf Hosni. |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | دور التعدد الشكلى لجين TNFRSF1A فى قابلية وشدة مرض التصلب المتعدد العائلى وغير العائلى فى مجموعة من السكان المصريين |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 2025. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 111 pages : |
| Other physical details | illustrations ; |
| Dimensions | 25 cm. + |
| Accompanying material | CD. |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Source | rda content |
| 337 ## - MEDIA TYPE | |
| Media type term | Unmediated |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | volume |
| Source | rdacarrier |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (Ph.D)-Cairo University, 2025. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE | |
| Bibliography, etc. note | Bibliography: pages 84-100. |
| 520 #3 - SUMMARY, ETC. | |
| Summary, etc. | Introduction: Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system that is caused by a complex interplay of genetic, epigenetic, and environmental factors. Objectives: To investigate the relationship between serum levels of TNF and TNFRSF1A gene polymorphisms and their impact on the risk and severity of MS. Methods: This case-control study included 50 patients with relapsing-remitting multiple sclerosis, both familial and non-familial, and 50 healthy matched controls. Molecular analysis of TNFRSF1A gene variants (rs1800693) was performed using TaqMan Real-Time PCR, and TNF serum levels were measured using ELISA. Results: The frequency of the (C/C) genotype was significantly higher in patients (16%) compared to controls (2%). Additionally, the frequency of the (C) allele in TNFRSF1 (rs1800693) was significantly higher in patients (17%) than in controls (2%). The median serum TNF level was significantly higher in controls (79.99 Pg/ml, IQR: 67.39 to 434.48) compared to MS patients (67.93 Pg/ml, IQR: 57.15 to 80.79). Furthermore, the serum TNF level was significantly lower in patients with TNFSF1A gene variants C/C and C/T with a median of 56.31 Pg/ml (IQR: 48.84 to 73.9) compared to patients with TNFSF1A gene variant T/T with a median of 69.26 Pg/ml (IQR: 58.7 to 85.08). A significant negative correlation was found between serum TNF and EDSS in MS patients (r = -0.28, p value = 0.04). Conclusion: The rs1800693 SNP (C/C) variant is a significant factor in the development of MS. Targeting TNF receptors in MS should be done selectively. |
| 520 #3 - SUMMARY, ETC. | |
| Summary, etc. | التصلب المتعدد هو مرض مناعى ذاتى يصيب الجاز العصبى المركزى و يحدث نتيجة عوامل وراثية وجينية و بيئية.<br/>الهدف من هذه الدراسة هو معرفة العلاقة بين الجينTNFRSF1Aومستوى TNF فى الدم وتاثيرهم فى قابلية وشدة مرض التصلب المتعدد.<br/>هذه دراسة وصفية مقطعية تمت على خمسين مريضا يعانون من مرض التصلب المتعدد الانتكاسى العائلى وغير العائلى ومقارنتهم بخمسين من الاصحاء وتم اجراء التحليل الجزيئى لمتغيرات الجيناتTNFRSF1A(rs1800693) باستخدام TaqMan Real Time PCR وتم قياس مستوياتTNF فى الدم باستخدام ELISA.<br/>وقد اظهرت النتائج ان النمط الجينى (c/c)اعلى بكثير فى المرضى(١٦٪ (مقارنة بالاصحاء (٢٪) بالاضافة الى ذلك كانت (c) فى الطفرة TNFRSF1A(rs1800693) اعلى فى المرضى (١٧٪) مقارنة بالاصحاء (٢٪) وكان متوسط مستوى TNFفى الدم فى الاصحاء( ٧٩.٩٩ بيكو غرام /مل) اعلى بكثير مقارنة بالمرضى(٦٧.٩٣بيكو غرام/مل) وكان مستوى TNFفى الدم اقل فى المرضى ذوى الطفرة الجينيةTNFRSF1A C/C وC/T بمتوسط ٥٦.٣١بيكو غرام /مل مقارنة بالمرضى ذوى الطفرة الجينية TNFRSF1A T/Tبمتوسط ٦٩.٢٦بيكو غرام /مل كما تبين ايضا وجود علاقة عكسية بين نسبة TNF فى الدم و شدة التصلب المتعدد.<br/>و فى الختام اظهرت نتائجنا ان الطفرة الجينية rs1800693C/Cعامل مهم فى قابلية الاصابه بالتصلب المتعدد و من المفترض ان يتم استهداف مستقبلات TNF بصورة محددة لان نسبته قليلة فى مرضى التصلب المتعدد. |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Issues CD | Issues also as CD. |
| 546 ## - LANGUAGE NOTE | |
| Text Language | Text in English and abstract in Arabic & English. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | multiple sclerosis |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | مرض التصلب المتعدد |
| 653 #0 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Multiple sclerosis |
| -- | Tumor necrosis factor |
| -- | TNFRSF1A gene |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maged Mohamed Abdel Naseer |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montaser Moawad Hegazy |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karim Mohamed Abd Elfattah Ali |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hala Ashraf Hosni |
| Relator term | thesis advisor. |
| 900 ## - Thesis Information | |
| Grant date | 01-01-2025 |
| Supervisory body | Maged Mohamed Abdel Naseer |
| -- | Montaser Moawad Hegazy |
| -- | Karim Mohamed Abd Elfattah Ali |
| -- | Hala Ashraf Hosni |
| Universities | Cairo University |
| Faculties | Faculty of Medicine |
| Department | Department of Neurology |
| 905 ## - Cataloger and Reviser Names | |
| Cataloger Name | Shimaa |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Thesis |
| Edition | 21 |
| Suppress in OPAC | No |
| Source of classification or shelving scheme | Home library | Current library | Date acquired | Inventory number | Full call number | Barcode | Date last seen | Effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | قاعة الرسائل الجامعية - الدور الاول | 14.10.2025 | 92406 | Cai01.11.20.Ph.D.2024.Ah.T | 01010110092406000 | 14.10.2025 | 14.10.2025 | Thesis |