MARC details
| 000 -LEADER |
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| fixed length control field |
06675namaa22004211i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
OSt |
| 005 - أخر تعامل مع التسجيلة |
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| control field |
20250409115611.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
250303s2024 |||a|||frm||| 000 0 eng d |
| 040 ## - CATALOGING SOURCE |
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| 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 |
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| Acquisition Source |
Deposit |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
618.92 |
| 092 ## - LOCALLY ASSIGNED DEWEY CALL NUMBER (OCLC) |
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| Classification number |
618.92 |
| Edition number |
21 |
| 097 ## - Degree |
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| Degree |
M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
|---|
| Local Call Number |
Cai01.11.28.M.Sc.2024.Ay.C |
| 100 0# - MAIN ENTRY--PERSONAL NAME |
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| Authority record control number or standard number |
Ayat Magdy Mohammed Ahmed, |
| Preparation |
preparation. |
| 245 10 - TITLE STATEMENT |
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| Title |
Clinical and laboratory profile of glycogen storage diseases in egyptian children : |
| Remainder of title |
a single center study / |
| Statement of responsibility, etc. |
by Ayat Magdy Mohammed Ahmed ; Supervisors Prof. Dr. Sawsan Hassan Hussein Okasha, Prof. Dr. Noha Adel Yassin. |
| 246 15 - VARYING FORM OF TITLE |
|---|
| Title proper/short title |
الملامح السريرية و المخبرية لمرض تخزين الجليكوجين فى الاطفال المصريين : |
| Remainder of title |
دراسة مركزية واحدة / |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
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| Date of production, publication, distribution, manufacture, or copyright notice |
2024. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
123 pages : |
| Other physical details |
illustrations ; |
| Dimensions |
25 cm. + |
| Accompanying material |
CD. |
| 336 ## - CONTENT TYPE |
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| Content type term |
text |
| Source |
rda content |
| 337 ## - MEDIA TYPE |
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| Media type term |
Unmediated |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
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| Carrier type term |
volume |
| Source |
rdacarrier |
| 502 ## - DISSERTATION NOTE |
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| Dissertation note |
Thesis (M.Sc)-Cairo University, 2024. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE |
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| Bibliography, etc. note |
Bibliography: pages 103-123. |
| 520 ## - SUMMARY, ETC. |
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| Summary, etc. |
Introduction: Glycogen storage diseases (GSD) are a group of autosomally recessive inherited disorders due to defects in the metabolism of glycogen. The liver and skeletal muscles tend to be the most severally affected organs. The most common manifestations are hypoglycemia, convulsions, hepatomegaly, growth retardation and myopathy.<br/>The aim of this work: was identifying the clinical, laboratory, anthropometric profile, treatment efficacy and prognosis of children with GSD.<br/>Patients and method: The study included 120 patients with GSD who presented to the Pediatric Hepatology Clinic, Cairo University Children’s Hospital, in the time period from January 2009 to December 2019. Investigations done included complete blood count, liver functions, prothrombin time, serum lactate, triglycerides, uric acid, creatinine kinase (CK), fasting glucose tolerance test, echocardiography, bone density assessment and electromyography (EMG).<br/>Results: There were 65(54.2%) males, 55(45.8%) females, in this study GSD Ia and GSD Ⅲ were the most common types of GSD while GSD Ⅸ and GSD Ⅳ were the least common. Patients were diagnosed by enzyme activity test (28), by genetic test (9), and by clinical and biochemical characters (83). 62.5% of children showed height below 3rd percentile at first visit while 55.8% was below 3rd percentile for height on recruitment. Liver enzymes were significantly elevated in patients with GSD Ⅲ and Fanconi Bickel. Fasting tolerance test at the time of recruitment, 94 (78.4%) patients showed hypoglycemia before 12 hours: 39 patients with GSD Ia, 47 patients with GSD Ⅲ. EMG was abnormal in 30(60%) of patients. ECHO was abnormal in 29 (24.2) of patients. Patients who were compliant on treatment showed significantly lower that Mean (± SD) of ALT at time of recruitment than those who were not compliant (178.5± 168.4 vs 266.7±186.8) P value =0.008. The Mean (± SD) of AST at time of recruitment was significantly lower than those who were not compliant (190.7 ± 222.4 vs 332.4 ± 293.4) P value =0.004.The height showed significant improvement(less percentage had abnormal height on follow up)in patients who were compliant on starch.<br/>Conclusion: Adjusting doses of cornstarch and compliance on treatment in patients with GSD help to improve growth, reduction in the frequency of hypoglycemic attacks and improvement of liver function tests. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
تمثل أمراض تخزين الجليكوجين مجموعة من الاضطرابات التي عادة ما تصبح واضحة في مرحلة الطفولة المبكرة وتعكس عواقب نقص الإنزيمات الضرورية.<br/>شملت هذه الدراسة المقطعية 120 مريضًا مصابًا بـ GSD الذين حضروا وحدة أمراض الكبد للأطفال في مستشفى الأطفال بجامعة القاهرة، خلال الفترة ما بين يناير 2009 وديسمبر 2019.<br/>كان الهدف من هذه الدراسة هو وصف حالة المرضى والعلاج والتشخيص للأطفال المصريين المصابين بـ GSD. كان هناك 54.2% ذكور، 45.8% إناث، نسبة الذكور إلى الإناث 1.18: 1. التاريخ العائلي الإيجابي لمرض GSD كان موجوداً في 79.2% من المرضى.<br/>كشفت الدراسة الحالية أن 44.2% من المرضى هم GSD Ia و44.2% GSD Ⅲ وهذه هي الأنواع الأكثر شيوعاً لـ GSD بينما 0.8% GSD Ⅳ و0.8% GSD Ⅸ وهذه الأنواع أقل شيوعاً.<br/>وفقًا لبياناتنا السريرية، كان المرضى الذين يعانون من انتفاخ البطن (94.4%)، وتضخم الكبد (100%)، والوجه الدمي (45%)، والتشنج (26.6%)، والمعالم الحركية المتأخرة (17.5%) هي النتائج السريرية الأكثر شيوعًا. <br/>تم قياس الطول و الوزن في الزيارة الأولى والزيارة الاخيرة.كان طول 62.5% من الأطفال أقل من المنحنى في الزيارة الأولى، بينما كان 55.8% أقل من المنحنى عند الزيارة الاخيرة.<br/>وفقا لهذه الدراسة، كان اثنان وتسعون (76.6٪) من المرضى يعانون من فقر الدم في الزيارة الأولى وأربعة وستون (53.3٪) من المرضى يعانون من فقر الدم في الزيارة الاخيرة. في الزيارة الأولى، كان متوسط ±الانحراف المعيارى لـ ALT 323.5 ± 367.8 وحدة دولية/لتر؛ كان متوسط ±الانحراف المعيارى لـ AST 450.9 ± 574.5 IU/L بينما في الزيارة الأخيرة، كان متوسط ±SD لـ ALT 218.6 ± 182.4 IU/L، وكان متوسط ±الانحراف المعيارى لـ AST 258.2 ± 266.9 IU/L |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE |
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| Issues CD |
Issues also as CD. |
| 546 ## - LANGUAGE NOTE |
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| Text Language |
Text in English and abstract in Arabic & English. |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Pediatrics |
| Source of heading or term |
qrmak |
| 653 #0 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
GSD |
| -- |
Hypoglycemia |
| -- |
Hepatomegaly |
| -- |
growth |
| -- |
triglycerides |
| -- |
creatinine kinase |
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Sawsan Hassan Hussein Okasha |
| Relator term |
thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Noha Adel Yassin |
| Relator term |
thesis advisor. |
| 900 ## - Thesis Information |
|---|
| Grant date |
01-01-2023 |
| Supervisory body |
Sawsan Hassan Hussein Okasha |
| -- |
Noha Adel Yassin |
| 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 |
