The role of family cardiac investigation for elucidating the mode of inheritance in pediatric cardiomyopathy : (Record no. 174323)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 05657namaa22004451i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - أخر تعامل مع التسجيلة | |
| control field | 20251005123004.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 250928s2024 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 | 618.92 |
| 092 ## - LOCALLY ASSIGNED DEWEY CALL NUMBER (OCLC) | |
| Classification number | 618.92 |
| Edition number | 21 |
| 097 ## - Degree | |
| Degree | M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Local Call Number | Cai01.11.28.M.Sc.2024.Ma.R |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Authority record control number or standard number | Mahmoud Abdelaziz Hassan Elgezeri, |
| Preparation | preparation. |
| 245 14 - TITLE STATEMENT | |
| Title | The role of family cardiac investigation for elucidating the mode of inheritance in pediatric cardiomyopathy : |
| Remainder of title | single center-based study / |
| Statement of responsibility, etc. | by Mahmoud Abdelaziz Hassan Elgezeri ; Supervised Dr. Prof. Sonia Ali El-Saiedi, Dr. Prof. Baher Matta Nashed, Dr. Sherif Rizk Youssef. |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | دور الفحوصات القلبية للعائلة في توضيح طريقة التوارث في الاطفال الذين يعانون من اعتلال عضلة القلب دراسة معتمدة علي مركز واحد |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 2024. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 114 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 (M.Sc)-Cairo University, 2024. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE | |
| Bibliography, etc. note | Bibliography: pages 106-114. |
| 520 #3 - SUMMARY, ETC. | |
| Summary, etc. | Background: Clinical screening of asymptomatic first-degree relatives is highly recommended to detect asymptomatic cases of Familial cardiomyopathy and to look for early signs of disease as the disease is inherited mainly in an autosomal dominant pattern. Studies in which asymptomatic relatives have been systematically evaluated have shown that at least 20-35% of cases of “idiopathic” cardiomyopathy will have other family members affected.<br/>Aim: Screening of first-degree family members for early detection of diseased asymptomatic cardiomyopathic cases, assessment of percentage of familial cardiomyopathy and to detect mode of inheritance which appeared to be an autosomal dominant inheritance at the end of the study.<br/>Patients and methods: This is an observational Cross sectional analytic study was carried out on 60 patients fulfilling the inclusion criteria with regular follow up in cardiomyopathy clinic in Cairo University Pediatric Specialized Hospital (CUPSH).<br/>Results: The study revealed that all the results are pointing to an autosomal dominant pattern of inheritance mainly including some autosomal recessive inheritance cases. <br/>Conclusion: Most cardiomyopathy patients have a family history of the disease; hence, CM is probably genetically transmitted as an autosomal dominant pattern. Clinical screening of asymptomatic first-degree relatives is highly recommended as Cardiomyopathy is an autosomal dominant inheritance with some cases are autosomal recessive.<br/>Our study demonstrates that family screening can effectively identify familial cardiomyopathy patients at an earlier stage of disease. The possibility of changing the prognosis of cardiomyopathy needs to be verified in patients intensively treated with tailored medical treatment. Family screening should be recommended for all cardiomyopathy patients. |
| 520 #3 - SUMMARY, ETC. | |
| Summary, etc. | ان اعتلال عضلة القلب من الأمراض المنتشرة والتي يعاني منها عدد لا بأس به من الأطفال في مصر وحيث أن الهدف الاساسي في هذة الدراسة هو معرفة طريقة التوارث وماهيتها في الأطفال فقد قمنا في هذة الدراسة بعمل فحص شامل لمجموعة من الأطفال الذين يعانون من اعتلال عضلة القلب ويقومون بالمتابعة الدورية في عيادة اعتلال عضلة القلب بمستشفي الأطفال بجامعة القاهرة حيث تم اعادة مناظرة الحالات وجميع الأقارب من الدرجة الأولي وعمل فحص اكلينيكي مع عمل أشعة موجات فوق صوتية علي القلب (ايكو) لتقييم الحالة العامة للمريض وعمل مسح شامل للأقارب من الدرجة الأولي لاكتشاف الحالات المصابة باعتلال العضلة ولكن لم تظهر عليهم الأعراض بعد وعند الانتهاء من البحث وتطبيق شروط اختيار الحالات المتوافقة مع دراستنا تبين أن طريقة التوارث في اعتلال عضلة القلب العائلي في الغالب هو توارث بصفة سائدة مع وجود بعض حالات قليلة يكون التوارث فيها بصفة متنحية وعليه يجب فحص العائلة كاملة خاصة الأقارب من الدرجة الأولي لاكتشاف الحالات التي لايظهر عليها أعراض اعتلال العضلة. |
| 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 | Pediatrics |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | طب الاطفال |
| 653 #1 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Familial dilated cardiomyopathy |
| -- | familial cardiac screening, |
| -- | genetics of cardiomyopathy |
| -- | familial hypertrophic cardiomyopathy |
| -- | echocardiography |
| -- | heart failure |
| -- | autosomal dominant |
| -- | autosomal recessive |
| -- | x- linked. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sonia Ali El-Saiedi |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baher Matta Nashed |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sherif Rizk Youssef |
| Relator term | thesis advisor. |
| 900 ## - Thesis Information | |
| Grant date | 01-01-2024 |
| Supervisory body | Sonia Ali El-Saiedi |
| -- | Baher Matta Nashed |
| -- | Sherif Rizk Youssef |
| Universities | Cairo University |
| Faculties | Faculty of Medicine |
| Department | Department of Pediatrics |
| 905 ## - Cataloger and Reviser Names | |
| Cataloger Name | Shimaa |
| Reviser Names | Eman Ghareb |
| 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 | 28.09.2025 | 92049 | Cai01.11.28.M.Sc.2024.Ma.R | 01010110092049000 | 28.09.2025 | 28.09.2025 | Thesis |