Pediatric department - Ain Shams Universitymed.asu.edu.eg/uploads/med/Doctorate_degree_in_medical_and_clin… · As a department we are committed to medical student education and

Pediatric department

FFaaccuullttyy ooff MMeeddiicciinnee AAiinn SShhaammss UUnniivveerrssiittyy

PPoossttggrraadduuaattee SSttuuddiieess

Medical Doctorate in Medical and Clinical Genetics

اإلكلينيكية و في الوراثة الطبية دكتوراةدرجة ال

PPrrooggrraamm CCooddee::

Program Guide And

Logbook

2

3

C a n d i d a t e C u r r i c u l u m v i t a e

Experience

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Training

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Filled by post graduate authorities

Date of Registration

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Third semester

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Fourth semester

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Fifth semester

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Sixth semester

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TABLE OF CONTENTS:

I – Welcome Statement

II - Mission Statement

III – Senior supervisor and affiliated departments and Hospitals

IV – Program specifications

1 - Basic Information

2 - Professional Information

3 - Academic standards

4 - Curriculum structure and contents

5 - Program courses

6. Program admission requirements

7. Regulation for progression and program completion

8. Appendix of program specification

a. First part

Basic principles of genetics, and its clinical applications

b. Second part

Medical genetics

c. Elective courses

1. Molecular biology

2. Medical statistics

3. Human Resources & Hospital Management

V - General information

VI – Your log book

1 – Introduction

2 - Supervisors, Trainers and/or Educators

3 - Tables for training records

4 – Log book preview

VII - Head of department approval for the exam entry

Detachable forms:

VIII – Thesis follow up

7

IX - Evaluation forms

I – WELCOME STATEMENT:

The Department of Pediatrics welcomes you to the Doctorate degree in Medical and Clinical

Genetics. As a department we are committed to medical student education and continuously strive to improve

your educational experience. This handbook presents information guide and logbook activity of the

Doctorate degree in Medical and Clinical Genetics administered by the Pediatric department-, Faculty

of Medicine, Ain Shams University

II - MISSION STATEMENT:

The mission of the Faculty of Medicine, Ain Shams University is “Preparation of a trained physician,

researcher and lifelong tutor capable of following standards of medical care and ethics, with

managerial and technical skills in his specialty. Furthermore, promotion outstanding programs of

health care to serve the society, environmental development and targeted scientific research for

continual improvement of health”.

The mission of this degree is designed to give students a working knowledge of the principles and

practice of Medical and clinical Genetics which allows them to evaluate, choose and interpret appropriate

genetic investigations for individuals, families and populations with genetic disease. Candidates will also

learn to recognize situations in which genetic testing may not be appropriate for ethical reasons. Our aim is

to ensure that our students develop new skills to increase their success in employment in medical and

clinical genetics related fields.

III – SENIOR SUPERVISOR AND AFFILIATED DEPARTMENTS AND HOSPITALS

SENIOR SUPERVISOR

Prof. Mohamed Saad Zaghloul Salem

E-mail: [email protected], [email protected]

AFFILIATED DEPARTMENTS AND HOSPITALS

Genetics Unit, Department of pediatrics, Faculty of Medicine, Ain Shams University.

National Research Institute

Medical Research Institute in Alexandria

IV – PROGRAM SPECIFICATIONS

A- Basic Information

1. Program title: Medical Doctorate in Medical and Clinical Genetics.

2. Program type: multiple

3. Faculty: Faculty of Medicine

4. Department of pediatrics.

5. Assistant coordinator: Dr. Solaf Mohamed

6. Coordinator:

Prof. Mohamed Saad Zaghloul

Prof. Solaf Mohamed Elsayed

Prof. Rabah Mohamed Shawky

Prof. Mohamed Abd-Eladl El-Sawi

Prof. Karam Abdelaleem

Prof. Ezzat Elsobky

http://us-mg6.mail.yahoo.com/yab-fe/mu/MainView?.src=neo&themeName=img-flowers&bn=54_9364&s=0&isFresh=1&bucketId=0&stab=1378812547292

http://us-mg6.mail.yahoo.com/yab-fe/mu/MainView?.src=neo&themeName=img-flowers&bn=54_9364&s=0&isFresh=1&bucketId=0&stab=1378812547292

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7. Last date of program approval

B- Professional Information: Overall aims of the course:

The aim of the Doctorate degree in Medical and clinical Genetics is:

1- To facilitate the acquisition and integration of a knowledge base in all areas of Medical and clinical

Genetics that enable students to understand inherited diseases and the diagnostic and screening methodologies which

may be employed to benefit individuals, families or populations.

2- To enable students to work with family information and diagnostic data in order to provide genetic risk

assessment and best genetic advice to individuals and their families in an ethical way.

3- To provide students with the opportunity to work with a team of their peers to investigate real clinical

scenarios using their critical understanding of Medical and clinical Genetics to suggest appropriate diagnoses,

investigations, management and counseling .

4- To develop students’ skills in problem solving, literature searches, scientific writing, oral presentations, and

team working.

Intended learning outcomes (ILOs):

a- Knowledge and understanding:

By the end of this program the student are expected to:

a1. Describe the molecular basis of different inherited disease and the molecular diagnostic methods which are

used to identify the causative mutations in patients or carriers in order to provide suitable genetic information and

prenatal diagnosis where appropriate.

a2. Identify the chromosomal disorders and the cytogenetic and molecular cytogenetic diagnostic methods

which are used to characterize the underlying chromosomal abnormality for the purposes of providing counseling

and prenatal diagnosis where appropriate.

a3. Describe treatments and therapy for inherited disease and cancer, including novel therapies such as gene

therapy.

a4. Outline the principles and practice of population screening programs for ascertaining carrier status of

inherited disease, identifying at-risk individuals prenatally or following birth, and for prenatal identification of

pregnancies at risk of chromosomal disorders or congenital defects.

a5. Recognize the principles and practice of non-directive genetic counseling relating to reproductive choices,

pre-symptomatic, diagnostic, carrier and prenatal testing for families affected by genetic disorders.

a6. Know the ethical issues which are an inherent part of Medical Genetics.

b- Intellectual skills:

By the end of this program the student should be able to:

b1. Deal with complex clinical scenarios and develop original and creative responses and select appropriate

laboratory tests.

b2. Apply problem solving skills and intellectual independence to individual clinical situations.

c- Professional and practical skills

By the end of this program the student should be able to:

c1. Use their knowledge in Medical and clinical Genetics and clues from pedigree, family history and other

information to suggest likely inheritance patterns and / or diagnoses.

c2. Use of online molecular, genetics and dysmorphology databases to assist with acquisition of relevant data

and selection of possible diagnoses.

c3. Select the diagnostic or screening methods which will be most appropriate and informative in a given

clinical situation whilst taking into account the wishes of patients.

c4. Identify appropriate information to be given to patients and their families, including more far-reaching

issues which might not have been identified by patients or their referring clinicians.

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c5. Calculate genetic risk using both Mendelian and conditional information.

c6. Deal with the sometimes complex ethical issues related to genetics, genetic counseling and genetic testing,

with an awareness of differences in cultural and religious attitudes.

d- General and Transferable/key skills

By the end of this program the student should be able to

d1. Work safely in a laboratory environment.

d2. Be responsible for one’s own work in independent tasks and as part of a team effort.

d3. Have an effective time management skills to accomplish individual designated tasks by a given date.

d4. Develop a team leadership.

d5. Have constructively critical self- and peer-evaluation.

d6. Have good scientific report writing and oral presentation skills.

d7. Use of online databases and e-journals;

4. Academic standards: (Benchmarks)

Academic reference standards (ARS) of NAQAAE guided by:

1- University of: Glasgow: Website: http://www.gla.ac.uk/

2- American college of medical genetics: www.acmg.net

3- Canadian college of medical genetics: www.ccmg-ccgm.org

4- British Joint Royal colleges of physicians training board.

4. Curriculum structure and contents:

4.1-Programme duration: 36 months (6 semesters)

4.2 Programme structure:

انمىاهج

انكود انمقرراث اندراسيت انساعاث

انمعتمدة

دورة أساسياث انبحث انعهمي نكهيتامتطهباث

6 اساثخ االعبع١. األول انجزء

15 انرسانت

22 ظش اساثخ اطج١خ انجزء انثاوي

انمقرراث

االختياريت

:٠خزبس اطبت بدح ازذح

اداسح غزشف١بد - االزصبء اطج -اج١خ١ب ادض٠ئ١خ 2

15 كراست األوشطت

60 انمجموع

http://www.gla.ac.uk/

http://www.acmg.net/

http://www.ccmg-ccgm.org/

10

5. Programme courses:

a. Compulsory

First part

5.a Semester: 1

Code

No.

COURSE TITLE NO. OF

MODULE

NO. OF

CREDIT

HOURS

No. Of hours PROGRAMME

ILOS

COVERED (BY

NO.)

L T/P SDL

Basic principles of

genetics, and its clinical

applications

Module A 6 54 72

T: Tutorial, C: Clinical /P: Practical, SDL: Self directed learning

Second part

5.a Semesters: 2, 3, 4, 5

NO. of credit hours: 22 hours

COD

E

NO.

COURSE

TITLE

MODULE NO. OF

CREDIT

HOURS

NO. OF HOURS PROGRAM ILOS

COVERED (BY

NO.) L. C. SDL

Medical

Genetics

Module B 5 + a9, a10

Module C 6 + a10, a11, a13

Module D 5 + a12, a14, b1,b2, c3, c4

Module E 6 +

L: Lecture, C: Clinical, lab: laboratory, SDL: Self directed learning

Module B: developmental genetics, teratogens and congenital malformations:

Module C : Biochemical genetics and IEM.

Module D : Molecular and applied genetics

Module E: Cancer genetics, immunogenetics, and endocrinal genetics

Students are required to attend all 4 modules to complete the program.

Semester No: 6

Elective course and final exam

NO. of credit hours: 2 hours

11

b Elective – number required:1

CODE COURSE TITLE NO. OF HOURS

L P SDL

Molecular biology 9 12

Medical statistics 9 12

Human Resources & Hospital Management 9 12

6. Program admission requirements:

-(: يشترط نقيد انطانب نهحصول عهى درجت اندكتوراي :7انمادة )

أ ٠ى زبصال ػ دسخخ ابخغز١ش ف بدح ازخصص إزذ ادبؼبد اصش٠خ أ ػ دسخخ ؼبدخ ب -1

ز١فبء اغززذاد اطثزخ فز رغذ٠ذ اشع صبس٠ف ازذس٠ت إعزالن األخزضح إعز -9 .افمخ خخ اؼ ػ زطجبد اذساعخ -2.

ازفشؽ ذساعخ ذح خظ فصي دساع١خ ػ األل لج دخي ازسب ادضء اثب. ٠ىز أ ٠زز اززذس٠ت زفظ ازذح -10 ( 2اسك )

اخزصخ. ػ األل ف ازذ اغزشف١بد أ اشاوض اؼ١خ اؼزذح اى١خ ثؼذ أعز١فبء اششط از رسذدب األلغب

7. Regulation for progression and program completion

غخزش ٠ز ازغد١ ذسخبد اذوزسا شر١ ف اؼزب : األز ز أي ١٠ز ززز غخزش أاغزطظ اثب١زخ ز أي زفجش ززز(: 8مادة )

د٠غجش

زب خغزخ ػشزش اعزجػب . ٠جزذا االي فز أي أوززثش ٠جزذا رصع اذساعخ ف و ػب خبؼ ػز فصز١ دساعز١١ زذح وز(: 9مادة )

اذساعز لجز اعزجػ١ ز ثذا٠زز اثب ف صف فجشا٠ش. غ رظ١ فص دساع ص١ف ىثف ذح عزخ اعزبث١غ . ٠زز ازغزد١ فصز

عزبػبد ؼززذح. 6اعز فز افصز ااززذ ػز ػ االل ثؼذ إعز١فبء اششط زغزت امزشساد اغزدخ. ال٠جأز أ ٠ض٠زذ اؼزتء اذس

٠دص طبت رؼذ٠ امشساد خالي اعجػ١ ثذا٠خ افص اذساع ) ثبسزف ا االضبفخ (. وب ٠دص االغسبة خالي عز اعبث١غ

ازذ امشاسد د اززغبث ساعجب ف١.

ثالث ششا )عذ فصي دساع١خ( ٠دزبص خالز اطبزت ثشبدزب رزذس٠ج١ب زىزبال ذح اذساعخ سصي ػ اذوزسا عزخ (: 77مادة )

ال ٠غززر زز ثززذخي األشزطخ ثبمغز طجمززب غززبػبد اؼززذح اضززسخ ثبجززبة اخززبظ ٠غززف خالززب اطززة ز فزز وز١ززت زبثؼززخ

. ؼزذح اغبػبد ااإلزسب لج إعز١فبء ثالثخ أسثبع اطة

ذح اذساعخ ف ادضء األي ذوزسا فص دساع ازذ ٠دزبص ثؼزذ اطبزت إزسبزب ال ٠شززشط ادزبذ ف١ز ثبىبز زمزبي (: 78مادة )

ؼ١زب ثبى١زخ اؼزذح امغ دزخ اذساعزبد اأ اشاوض ذساعخ ف ادضء اثب ٠شزشط خالب ازذس٠ت ثإزذ اغزشف١بد ادبؼ١خ

. ػ أ ٠ز إعزىبي اذساعخ طجمب غبػبد اؼزذح عاء ثبذاخ أ اخبسج

دزص بلشزخ اشعزبخ لجز زشس ػزب١ ػز رذسخزخ ال زغ ام١زذ ٠م ازذاسط ذسخزخ ازذوزسا ثزغزد١ ضزع اشعزبخ (: 79مادة )

ازغد١ ذسخخ ال ٠خصص ب دسخبد.

لجز دخزي إزسزب بلشزخ اشعزبخ اذاسط ذسخخ اذوزسا ثإعزز١فبء زطجزبد ادبؼزخ لجز ازغزد١ زطجزبد اى١زخ ٠م(: 02مادة )

دسخزخ( زطجزبد اى١زخ ز ز زس 550زطجبد ادبؼخ اسصي ػ شبدح از٠ف ف اأخ اإلد١ض٠خ )دع .ادضء اثب

ساعبد اؼ١ب ثبى١خ ف دبي ازخط١ط اذساعبد اطج١خ اإلزصبء اطجز أ إخز١زبص إخزجزبساد خبصزخ رسزذدب دساد ؼزذح دخ اذ

ادخ.

عزذ رغزؼ عزبػخ زب عزذ ثالثز عزبػخ رزذ دساعزز اثزبء ابخغزز١ش ٠ زبف اغبػبد اؼزذح ذساعخ اذوزسا (: 07مادة )

خزظ ػشزشح عزبػخ شعزبخ عزذ عزبػبد ػز األشطخ خصص ب خظ ػششح عبػخ ىز١ت زبثؼخػ األل ٠ؼزذح عبػخ عز

. إ خذاألل دضء األي

12

ذح ام١ذ ذسخخ اذوزسا خظ عاد ٠دص دظ ادبؼخ ثبءا ػ طت دظ اى١خ ثؼذ افمخ دخ اذساعزبد اؼ١زب (: 00مادة )

ثسزذ ألصز ثزب امغز إعززبدا إز رمزبس٠ش عز٠خ ز خ١زغ اشزشف١ ػز اطبزت اغزبذ ثإضزبفخ ػزب اززذ ثبى١خ ثؼذ طت دظ

عاد ربس٠خ ام١ذ سصي ػ دسخخ اذوزسا.

اخزفزخ ز أعزئخ ضغ إزسببد ضػ١خ رشز عزب ازم١ز١اللغب اؼ١خ ثبألشزشان غ ألغب ااد اشرجطخ ثزض ار(: 02مادة )

ذ ط٠خ لص١شح زؼذدح اإلخز١بساد ، إخزجبساد إو١١ى١خ مخ رم١ظ ابساد اخزفخ ػ أ رش وشاعخ ابح رفبص١ ره رؼزز

دخ اذساعبد اؼ١ب ثبى١خ .

صزدضء األي إ خذ. ٠ بف ا١زب اؼزذي افدسخخ 300دسخخ ب 1500دع دسخبد االزسب اب ذوزسا (: 02مادة )

. 400ازشاو ثب ٠اص

٠ؼمذ إزسب اذس األي ف أوزثش فجش و ػب ٠ؼمذ إزسب اذس اثب ف أثش٠ ب٠ و ػب. (: 02مادة )

زسش٠ش اؼ االو١١ى اشف و ػ زذح.ا % دسخخ٠60ى ادبذ ف اد اذوزسا ثؼذ اسصي ػ (:02مادة )

Assessment Schedule and Weighing of Assessments

ػ اخ ازب:سظخ: رؼبدي دسخبد اطبت طجمب مبط

7

-

و 2 : % فأكثر 92

قاط

A

0

-

92% حتى أقم مه 82مه

%

و 2627 :

قاط

A

-

2

-

% حتى أقم مه 82مه

82%

و 2622 :

قاط

B

+

2

-


82%

و 2622 :

قاط

B

2

-

% حتنننى أقنننم منننه 72منننه

72%

: 0627

وقاط

B

-

2

-


72%

و 0622 :

قاط

C

+

7

-


22%

و 0622 :

قاط

C

8

-


20%

و 7627 :

قاط

C

-

9

-

F رصف : %22أقم مه

13

دسخزخ دزضء األي دزع دسخزبد االزسزب 300دسخزخ زب 1200دع دسخبد االزسزب ازب زذث اؼزب ابخغزز١ش

دسخخ ذث 300 ازشاو ثب ٠اص صدسخخ دضء األي إ خذ. ٠ بف إ١ب اؼذي اف 300دسخخ ب 1500اب ذوزسا

.دسخخ ذوزسا 400خغز١ش اؼب اب

( ػ أعبط دع زبص ضشة مبط و مشس شثب ف ػذد عبػبر اؼززذح مغزب ػز ٠GPAز زغبة اؼذي افص )

( ػز أعزبط CGPAاؼزذي ازشاوز طبزت ) اغزبػبد اؼززذح مزشساد ازز دسعزب اطبزت فز افصز اذساعز. وزب ٠زز زغزبة

ع زبص ضشة امبط از زص ػ١ب اطبت ف وز مزشس زشثب فز ػزذد عزبػبر اؼززذح مغزب ػز دزع اغزبػبد د

اؼزذح اى١خ.

٠زز ٠ز اإلػبدح فز ازبدح أ ادػزخ فمزط. أ اذوزسا ابخغز١ش ف اذث أمشساد اف زبخ اشعة ف بدح أ دػخ

مزبط ا 1.67% فمط )ا60ازمذ٠ش افؼ از ٠سص ػ١ ف أي إػبدح فمط أب إرا رىشس سعثخ ف١سغت ػذ ادبذ رمذ٠ش زغبة-

C)6

االمتحاواث انمىاهج

انكود انمقرراث اندراسيت انساعاث

انمعتمدة

دع اذسخبد او١١ى شف ػ رسش٠ش

ػذد

األساق

اذسخخ

متطهباث

انكهيت

دورة أساسياث

انبحث انعهمي

انجزء

األول 6 اساثخ االعبع١.

2 100

100

50

50

300

15 انرسانت

انجزء

انثاوي ظش اساثخ اطج١خ

22

3 200

200

100

150 50 150

150

1100

انمقرراث

االختياريت

٠خزبس اطبت بدح

ازذح :

-خ١ب ادض٠ئ١خ اج١

اداسح - االزصبء اطج

غزشف١بد

2

1 100 100

كراست

األوشطت 15

60 انمجموع 900 150 150 300 1500

14

درجت نكم امتحان( 82) 2-2-2-2-0مهحوظت: يوجد تقييم بعد انفصول اندراسيت

First part course specifications

Unit 1

University: AAiinn SShhaammss UUnniivveerrssiittyy Faculty: FFaaccuullttyy ooff MMeeddiicciinnee

Program on which the course is given: Medical Doctorate in Medical and Clinical Genetics.

Major element of program: Major

Department offering the program: Pediatric Department.

Department offering the course: Genetics unit.

Academic year: /

Level: Postgraduate.

Date of specification approval:


Title: Basic principles of genetics, and its clinical applications. Code:

Credit Hours: 6 hours. Lecture: 54 hours Tutorial: 36 hours

Practical: 36 hours. Total: 126

B - Professional Information

1- Course Aims:

By the end of this course the candidate will

1. understand cellular and molecular mechanisms that underpin inheritance in man.

2. understand risk assessment.

3. Have knowledge of emerging genetic technologies and their application (including gene therapy).

4. Identify the social and ethical implications of genetic knowledge.

2- Intended Learning Outcomes (ILOs) from the Course:

a- Knowledge and understanding

By the end of the course the candidate will be able to demonstrate the ability to apply knowledge of:

a1 The chromosomal basis of heredity (mitosis and meiosis).

a2 Mechanisms of origin of numerical and structural chromosome abnormalities.

a3 Behaviour of structural chromosome abnormalities at meiosis

a4 The chemical structure of DNA and replication

a5 Cell biology: transcription and translation

a6 Modes of inheritance (Mendelian and non Mendelian)

a7 Risk calculations including combinatorial probability and Bayes Theorem

a8 The clinical embryology and molecular mechanisms of human malformation syndromes.

15

a9 Principles of teratogenesis and pregnancy associated risks.

a10 Mechanisms of mutagenesis and estimation of mutation rates.

a11 History of genetics.

b- Intellectual skills

By the end of the course the candidate will be able to:

b1- Understand and apply basic principles of genetics to clinical situations.

c- Professional skills


c1 Recognize different inheritance patterns in pedigrees.

c2 Calculate pedigree-based segregation ratios for structural chromosome abnormalities.

c3 Calculate empiric risk (occurrence and recurrence risks).

c4 Perform Bayesian risk calculations including linkage-based risk calculations.

c5 Calculate gene frequencies - the Hardy-Weinberg equilibrium and chi square tests of departure.

c6 Apply knowledge to interpret results of chromosome and molecular genetic analysis.

d- General and transferable skills


d1 Identify and critical evaluate information.

d2 Committed to lifelong self directed learning.

d3 Use primary sources of data.

d4 Appreciate the impact of genetic disorders on individuals and families.

d5 Appreciate potential benefits and harm of new genetic technologies.

d6 Appreciate public concerns about the application of new genetic technologies.

3- Course content:

1- first unit (module): Basic principles of genetics, and its clinical applications:

6 credit hours

Topic No. of Hours

L C lab SLD

1. Organization of the genetic material, Gene structure : Classic &

non-classic transcriptional units 2

2. Gene categories: Master genes, Regulatory genes, Structural

genes. 2

3. Genome Structure and Gene Expression 2

4. Genome stability & repair systems: DNA repair, RNA repair,

Protein repair. 2

5. Mitochondrial Genes in Degenerative Diseases, Cancer and

Aging 2

6. Mendelian inheritance, and Segregation analysis 2

7. Structure and functional mapping of chromosomes 2

16

8. Organization and regulation of Chromatin structure 2

9. Chromosomal Aberrations 4 30

10. Cytogenetic Diagnostic Techniques, Chromosome microarray:

types, techniques & applications

3 30

11. physiological mediators of genetic functions : signal transduction 2

12. Genetic regulation of cell functions 2

13. Genetic adaptations to physiological variations 2

14. Genetic regulatory networks of organ functions 2

15. Genetic regulatory networks in health and disease 2

16. Types of mutation 2

17. Targets of mutation: base mutation, sugar mutation, phosphate

mutation. 3

18. Mechanisms of mutation: Quantum mechanics and spontaneous

mutation 3

19. Effects of mutation 2

20. Pathogenetic mechanisms of genetic diseases – At genome

housekeeping (Master) genes level 2

21. Pathogenetics of Disease 2

22. Human developmental genetics 2

23. Genetic Assessment and Pedigree Analysis 4

24. Risk Estimation in Genetic Counseling 1

Total 54 30 30

L: Lecture, C: Clinical, lab: laboratory, SDL: Self directed learning

4 - Student Assessment Methods

4.1 Quizzes at the end of each subject to assess understanding and weak points.

4.2 Final term written exam (MCQ).

4.3 Final term oral exam: to assess knowledge, understanding and information presentation ability.

5- List of References: 5.1 Course Notes: Fundamentals of Pediatrics (Ain Shams Pediatric Department Notes).

5.2 Essential Books (Text Books):

Emery's Elements of Medical Genetics. Turnpenny and Ellard. Churchill Livingstone (13th Ed.)

.Principles And Practice Of Medical Genetics Emery And Rimoin's

5.3 Recommended Books

Thompson & Thompson Genetics in Medicine, Sixth Edition . Nussbaum, McInnes and Willard. Saunders

Second part course specifications

University: AAiinn SShhaammss UUnniivveerrssiittyy Faculty: FFaaccuullttyy ooff MMeeddiicciinnee

Program on which the course is given: Medical Doctorate in Medical and Clinical Genetics

17

Major element of program. Major

Department offering the program: Pediatric Department.

Department offering the course: Genetics unit.

Academic year: /

Level: Postgraduate.

Date of specification approval:


Title: Medical genetics. Code:

Credit Hours: 22 hours. Lecture: 198 hours. Tutorial: 132 hours.

Practical: 132 hours. Total: 462 hours

B- Professional Information

1 - Overall aims of course:

Provide students with an appropriate background covering the common and important genetic diseases.

Enable the development and application of appropriate professional attitudes, communication and

problem solving skills for management of genetics diseases.

2 - Intended learning outcomes of course (ILOs)

a- Knowledge and understanding:

Understand the mechanisms of genetic diseases and identify their diagnosis and treatment


b1-able to identify the core problem in different clinical situations pertinent to genetic diseases.

b2- Breakdown problems to help develop a working plan.

b3- Select the most appropriate diagnosis and differential diagnosis.

b5- Use disease registers to support follow-up of affected and at-risk patients.

b6- Assess screening protocols for at-risk relatives.

b8- Identify patients and relatives who are at at-risk of developing genetic diseases

c- Professional and practical skills

cl- Summarize an informative medical history relevant to genetic diseases c2- Examine for the most

objective clinical signs

c3- Apply national and international guidelines for diseases and implement treatment protocols.


dl- Communicate properly with patients and provide support and appreciate concern.

18

d2- Ability to work with colleagues, reduce conflict and create a healthy work environment.

d3- Maintain appropriate documentation of patients records.

d4- Inform patients about lifestyle factors that affect risk of developing genetic diseases.

d5- Support general practitioners with the long-term management of selected patients with familial

gastrointestinal cancer syndromes.

3. Course content

Module B: developmental genetics, teratogens and congenital malformations:

5 credit hours

Topic No. of Hours

L C lab SLD

1. Genomic organization in early development 3

2. Genomic / Genetic regulation of growth and development. 3

3. Role of Apoptosis in development & differentiation 3

4. Post-differentiation genetic alterations 3

5. Teratogenic factors and mechanisms of teratogenesis 1

6. Applied aspects of teratogenesis (diagnosis, prophylaxis,

treatment).

5

7. Congenital malformations 3 10

8. Genetic Diseases Of The Cardio-Vascular System. 6 5

9. Genetic Diseases Of The Respiratory System. 6 5

10. Genetic Diseases Of The Gastro-Intestinal System. 6 5

11. Genetic Diseases Of The renal System. 6 5

Total 45 30

Module C :Biochemical genetics and IEM:

6 credit hours

Topic No. of Hours

L C lab SLD

1. Nature and structure of nucleic acids (DNA & RNA) 2

2. Types of nucleic acids 2

3. Biochemical regulation of gene expression 2

4. Biochemical mediation of gene function 2

5. Biochemical alterations in genetic diseases. 2

6. Genetic predisposition to actions of drugs. 1

19

7. Genetic regulation of action of drugs. 2

8. Genetically determined abnormal responses to drugs. 1

9. Applied aspects of pharmacogenetics (diagnosis, prophylaxis,

treatment).

1

10. Inborn Errors Of Metabolism. 30 30

11. Biochemical Diagnostic Technique, Protein microarray : types,

techniques & applicati

30

12. Therapeutic genetics (drug, diet therapy, transplantation tharpy,

stem cell tharpy , surgical intwervention and gene tharpay)

9

Total 54 30 30

Module D :Molecular and applied genetics:

5 credit hours

Topic No. of Hours

L C lab SLD

1. Molecular Diagnostic Techniques, DNA microarray : types,

techniques & applications

30

2. Genetic maps : types & methodology, hysical maps, chromosome

maps, SNP maps, Linkage maps, Specific marker maps Genetics of

skeletal system

5

3. Genetic Diseases Of The Nervous System. 10 5

4. Genetic Diseases Of The Muscular System. 5 7

5. Genetic Diseases Of The connective tissue 5

6. Genetic Diseases Of The Blood. 10 5

7. Genetic Diseases Of The Skeletal System. 5 8

8. Preventive genetics 5 5

Total 45 30 30

Module E: Cancer genetics, immunogenetics, and endocrinal genetics:

6 credit hours

Topic No. of Hours

L C lab SLD

1. Cancer genetics: Genomic regulation of cell division and

development, Genetic alterations in aberrant cellular growth and

division., Proto-oncogenes, Oncogenes and genetic premalignant

conditions., Tumor suppressor genes, Genetics of metastasis and

invasion , Applied aspects of oncogenetics (diagnosis, prophylaxis,

treatment).

5 5 10

2. Immunogenetics: Genetics of the MHC and related systems, 9

20

Genetic regulation of the immune system : innate & acquired

immunity, Pathogenetic mechanisms of genetically determined

immune disorders, Applied aspects of immunogenetics (diagnosis,

prophylaxis, treatment).

3. Genetic Diseases of The Male Reproductive System. 5 7.5

4. Genetic Diseases of The Female Reproductive System. 5 7.5

5. Genetic Diseases of The Endocrinal System. 9 7.5

6. Genetic Diseases of The Eyes & Vision. 2 5

7. Genetic Diseases of The Ears & Hearing. 2 6

8. Genetic Diseases of The Skin. 5 6

9. Genetic Psychiatric Disorders. 3

10. Evolutionary genetics 2

11. Compartive genetics 2

12. experimental genetics 2

13. Geneomics and proteomuics 2

14. Forensic Genetics 1

Total 54 60 12

4- Student Assessment Methods

4.1- Short essay to assess knowledge and intellectual ILOs.

4.2- MCQs to assess knowledge and professional skills.

4.3- Clinical to assess practical skills.

4.4- Oral to assess knowledge and communication skills.

5- List of references:

1- Emery and Rimoin's Principles and Practice of Medical Genetics .Author: David L. Rimoin MD

PhD, J. Michael Connor MD DSc, Reed E. Pyeritz MD PhD

Publisher: Churchill Livingstone, fifth edition, 2006

2- Nelson textbook of Pediatrics (2007).

3- Nussbaum et al. Thompson & Thompson's Genetics in Medicine 7Edition, 2007.

4- Metabolic & Molecular Bases Inherited Disease, Author(s): Scriver, Charles R.; Beaudet, Arthur

L.; Sly, William S.; Valle, David Oxford University Press (OUP), 8th

edition, 2001

5- Smith's Recognizable Patterns Of Human Malformation Sixth Edition by Kenneth Jones

Semester No; 6

Elective courses: a- Molecular biology course specification University: Ain Shams University Faculty: of Medicine

Course specifications


http://www.target.com/gp/search/ref=pd_ttl_att_author_1/190-2016893-8100168?ie=UTF8&index=target&field-author=David%20L.%20Rimoin%20MD%20%20PhD

http://www.target.com/gp/search/ref=pd_ttl_att_author_1/190-2016893-8100168?ie=UTF8&index=target&field-author=David%20L.%20Rimoin%20MD%20%20PhD

http://www.target.com/gp/search/ref=pd_ttl_att_author_2/190-2016893-8100168?ie=UTF8&index=target&field-author=J.%20Michael%20Connor%20MD%20%20DSc

http://www.target.com/gp/search/ref=pd_ttl_att_author_3/190-2016893-8100168?ie=UTF8&index=target&field-author=Reed%20E.%20Pyeritz%20MD%20%20PhD

http://www.studentconsult.com/content/default.cfm?ISBN=9781416030805

http://www.amazon.com/exec/obidos/search-handle-url/ref=ntt_athr_dp_sr_1?%5Fencoding=UTF8&search-type=ss&index=books&field-author=Kenneth%20Jones

21

Major or minor element of programs: Minor

Department offering the program: Department of pediatrics

Department offering the course: Genetics unit , Department of pediatrics

Academic Level: Doctorate , 6th, semester

Date of specification approval: …………………………..

A- Basic Information Title: Molecular biology course Code:

Credit Hours: 2 hour Lecture: 2/week Total: 30

Coordinator


1- Course Aims:

The overall aim of this course is to provide the candidate with basic knowledge and awareness in the

field of molecular biology and genetics and their implications in blood diseases and cancer biology. This

course also aims to provide the candidates with competencies to incorporate molecular biology diagnostic

and therapeutic tools in clinical practice




a1. Understand the structure, function and organization of human genomes

a2. Describe the main principles of methods for preparation and extraction of DNA and RNA.

a3. Understand the main principles of methods for DNA amplification (PCR, RT-PCR, Real-time

PCR, etc.)

a4. Identify the main principles of methods for DNA sequencing

a5. Describe the main principles of DNA and RNA blotting

a6. Understand the concepts of recombinant DNA technology

a7. Understand the applications of molecular biology techniques in the diagnosis, taxonomy, species

and strain differention of microorganisms.

a8. Understand the applications of molecular biology techniques in genetic testing, in paternity testing,

studying drug resistance, and vaccine and drug development.

a9. Point out the principle of microarrays



b1. Integrate basic molecular biology facts with clinical examination.

b2. Identify the appropriate molecular biology technique required.

b3. Analyse and interpret the results molecular biology techniques and use them in diagnosis of a

clinical case.

b4. Identify tumor-associated genetic defects and relate them to patient prognosis.



c1. Incorporate new molecular biology knowledge and tools into daily patient care

c2. Use the computer to retrieve and compare molecular biology data

c3. Solve any subject-related problems provided by staff

22

c4. have the knowledge and skills necessary for a research careers that demand knowledge of

molecular biology. Apply safety measures in the laboratory.

c5. Apply methods to prevent contamination of the lab and equipments.

c6. Follow proper method of disposal of biohazardous samples (infectious, carcinogenic, etc.).

c7. Extract DNA

c8. Interpret the results of PCR and RT-PCR and DNA finger printing



d1. develop the skill of working in teams

d2. develop appropriate relationships with patient and family

d3. Use basic computing skills and internet to follow electronic lectures

d4. Communicate relevant information with teaching staff and colleagues

d5. Search gene and protein Database.

d6. Use molecular biology software.

3- Course content:

Basic principles in molecular biology No. of hours

L (1h) T lab SDL

1- Nucleic acid structure and organization 2

2- Cell cycle, DNA replication and repair 2

3- RNA transcription and processing 1

4- Regulation of gene expression 2

5-The Genetic code, mutation and protein synthesis 2

6- Recombinant DNA technology 2

7- Techniques of genetic analysi: -Extraction of DNA &

RNA, PCR & RT-PCR, DNA electrophoresis, Blotting

technique, Microarray

24

8- Gene Therapy & Stem cells 3

10- The Human Genome Project & advances in DNA

sequencing

2

11- Genetic variation & DNA finger printing 1

12- Ethical, Legal, and Social implications of genetic

knowlege

1

Total 18 24


written examination to assess knowledge and understanding (MCQ)

5 -- List of References

5.1- Course Notes (paper and / or electronic)

Lecture notes provided by the staff of genetics

………………………………………

5.2- Essential Books (Text Books)

…USMLE Step 1 Biochemistry (Kaplan)

23

…………………………………………

5.3- Recommended Books

…Lippincott Biochemistry……………………………………

…………………………………………

5.4- Periodicals, Web Sites, etc

http://www.web-books.com/MoBio/

http://www.coe.uncc.edu/~hhilger/EB_I_F_06/web_links_on_basics_of_molecular_biology.htm

http://plato.acadiau.ca/courses/biol/Microbiology/Basics.htm

http://www.wiley.com/legacy/college/boyer/0470003790/animations/cell_structure/cell_structure.htm

http://www.cellsalive.com/cells/3dcell.htm

http://www.johnkyrk.com/DNAanatomy.html good link

http://www.johnkyrk.com/DNAreplication.html

http://www.johnkyrk.com/DNAtranscription.html very good link

http://www.johnkyrk.com/DNAtranslation.html very good link

http://www.rothamsted.ac.uk/notebook/courses/guide/

http://www.bio.com/protocolstools/protocol.jhtml?id=p1242

http://users.ugent.be/~avierstr/principles/pcr.html

http://depts.washington.edu/genetics/courses/genet371b-aut99/PCR_contents.html [animation]

http://www.sumanasinc.com/webcontent/anisamples/molecularbiology/pcr.html

[animation]

http://www.sumanasinc.com/webcontent/anisamples/molecularbiology/molecularbiology.html

(animated techniques

b- Medical statistics course specification

University: Ain Shams University Faculty: of Medicine




Department offering the program: Pediatrics department-Genetics unit

Department offering the course: Community, Environmental and Occupational Medicine

Academic Level: Doctorate degree – 2nd

or 3rd

or 4th

semester



Title: Medical statistics course Code:

Credit Hours: 2 hour

A credit hour = Two hour lecture or practical weekly for 15 weeks

Coordinator

Community, Environmental and Occupational Medicine Department


1- Course Aim:

http://www.web-books.com/MoBio/

http://www.coe.uncc.edu/~hhilger/EB_I_F_06/web_links_on_basics_of_molecular_biology.htm

http://plato.acadiau.ca/courses/biol/Microbiology/Basics.htm

http://www.wiley.com/legacy/college/boyer/0470003790/animations/cell_structure/cell_structure.htm

http://www.cellsalive.com/cells/3dcell.htm

http://www.johnkyrk.com/DNAanatomy.html

http://www.johnkyrk.com/DNAreplication.html

http://www.johnkyrk.com/DNAtranscription.html

http://www.google.com/url?sa=D&q=http%3A%2F%2Fwww.johnkyrk.com%2FDNAtranslation.html

http://www.rothamsted.ac.uk/notebook/courses/guide/



http://users.ugent.be/~avierstr/principles/pcr.html

http://depts.washington.edu/genetics/courses/genet371b-aut99/PCR_contents.html%20%5banimation%255d

http://www.sumanasinc.com/webcontent/anisamples/molecularbiology/pcr.html



24

To enable the candidate to plan, conduct, analyze and interpret the results of a research in his specific

field. This course unit introduces the application of statistical ideas and methodology to medical research.




a1 - Define medical statistics and identify uses and importance of medical statistics in medical research

a2 – Define:

Types of variables.

Descriptive statistics.

Presentation and summarization of data.

Measures of central tendency and scatter.

Principles of probability and probability distributions.

Concepts of inferential statistics: confidence interval and hypothesis testing.

Different tests of statistical significance.

Difference between parametric and nonparametric tests of significance.

Correlation and regression

Concept of statistical modeling using multivariable and multivariate statistical methods.

Combining evidence from different studies and meta-analysis

Importance and methods of sampling and how to determinate the suitable sample size.

Different types of research methodology:

observational and intervention studies and the different statistical issues related to the design, conduct,

analysis and interpretation of the results of each study type.

Ethical aspects of medical research including those specifically applied to clinical trials.



b1 - Interpret correctly the results of statistical analyses and critically evaluate the use of statistics in the

medical literature.

b2 - Integrate and evaluate information from a variety of sources.



c1- Select appropriate study designs to address questions of medical relevance

c2 - Select and apply appropriate statistical methods for analyzing data typically encountered in medical

applications.

c3- Use selected software packages for statistical analysis and data management.



d1 - Work effectively in a group from different backgrounds.

d2 - Respects the role of staff and co-staff members regardless of degree or occupation.

d3 -Communicate effectively with professional statisticians and the wider medical community,

including the ability to present results of statistical analyses through written and oral presentations

d4 - Use of computer data bases and other computer skills.

25

d5 - Handle data appropriately and analyze them through: decision processes, objective criteria,

problem definition, project design and evaluation, risk management, teamwork and coordination.

d6 - Learn independently with open-mindedness and critical enquiry.

3- Course content:

Topics

T C

/P

Introduction to medical statistics and its uses x x

Types of variables and Descriptive statistics x x

Graphic presentation of data x x

Introduction to probability theory and rules x x

Sample and population: sampling distribution of mean and proportion x x

Confidence interval of a mean and a proportion x x

Confidence interval of a difference between two mean /proportion x x

Testing a hypothesis about population mean/proportion x x

Testing a hypothesis about the difference between two means/proportion x x

Comparing between more than two means-Introduction to factorial

analysis

x x

Cross-tabulation and introduction to categorical data analysis x x

Simple correlation and simple regression x x

Introduction to multivariable and multivariate analysis x x

Study designs: observational studies x x

Study designs: Intervention studies: clinical trials x x

Study designs: Experimental animal studies x x

Study designs: Bias and Confounding x x

Ethical issues in medical research x x

Sample size estimation for continuous and binary outcome measures. x x

Meta-analysis and publication bias. x x

T: Tutorial and C/P: Clinical or Practical and SDL: Self directed learning


4-1 Written exam to assess knowledge and understanding and will concentrate on problem solving

questions

5 - List of References


Student Notes on Medical Statistics and Research Methods. Prof. Mohsen Abdel Hamid and Dr

Moustafa El Houssinie. Department of Community, Environmental and Occupational Medicine.


Statistics in Clinical Practice. avid Coggon. BMJ Books. 2nd

edition 2003


Handbook of Epidemiology. Springer 2005

26


www.brettscaife.net/statistics/introstat/

onlinestatbook.com/rvls/

www. Epidemiolog.net

http://www.shef.ac.uk/scharr/spss/

Human Resources & Hospital Management course specifications

University: Ain Shams University Faculty: of Medicine




Department offering the program: General Internal Medicine department.

Department offering the course: General Internal Medicine department

Academic Level: 6th

semester



Title: Hospital Management Code:

Credit Hours: 2 hour Lecture: 2 h/week Total: 30 hours

Coordinator

Healthcare Quality Unit at Department of Community Medicine


1- Course Aims:

With the growing importance of hospital industry in providing health care to people across the

country, hospital management courses are also becoming popular. The requirement of professional

administrators in the hospitals is growing at a rapid pace primarily because the nature of work in

hospitals is quite deferent from other organizations. Hospitals are expected to deliver quality service

24 hours a day at a minimal cost. The urgent nature of its work and the level of efficiency that is

expected have increased the need of well-formulated hospital management courses throughout the

world providing participants with basic hospital management concepts


27



a1- Put Strategic planning

a2- Perform operational planning

a3- Manage human resources

a4- Manage healthcare quality



b1- Create effective management systems which allow hospital management to monitor and observe the

performance of key hospital processes, organisation arrangements, people and resources.

b2- Understand how to respond positively when performance is inadequate and change becomes necessary.



c1- Manage and lead hospital staff

c2- Support quality improvement initiatives.

c3- Measure hospital performance



d1- Work within the organisational, interpersonal and inter-professional dynamics of the clinical team.

d2- Make judgements about their strengths and weaknesses and take responsibility for personal support

and professional development

3- Course content:

Topics No of hours

Basic concepts and principles of hospital management

Strategic planning

Operational planning

Human resources management

Quality management

Communication skills

28


4.1 written exam to assess knowledge, skills

5 -- List of References





V- General Information

1 – Monitoring Of Training and Submission Of Training Reports

You must keep proper and updated records in your logbook to reflect the activities encountered in your

training. Your logbook must be duly endorsed by an authorized signatory at the end of each semester.

You will be continuously assessed by your supervisors, in consultation with head of department. An

assessment will be submitted within 2 weeks of completion of each semester.

2 - Miscellaneous Information:

Injury and/or Blood or Body Fluid Exposure:

During regular working hours, you should immediately report an exposure incident to infection control

unit. If exposure occurs after regular working hours or during a weekend or holiday; please report to the

Emergency Department.

Please also be sure to inform the supervisors of an exposure incident and/or injury.

3 - Action Completion Of Clinical Training

Once all training sessions are completed the log book should be signed by the senior supervisor and the

head of the department and then should be submitted to post graduate Secretariat.

4- Reference

The Training Guide is available at the post graduate Secretariat and could be downloaded from the

following website

29

VI – Your log book

1- Introduction

The aim of this book is to give you a guide to the expectations for each item. It will be a guide for

both you and your teachers to what you should be seeing and doing.

It will give you a list of the important topics that you should think about and should be covered in:

1. Clinical or practical sessions

or

2. Tutorials

or

3. Self-directed learning (SDL)

For each item there is also a list of

1. Clinical conditions or Practical sessions to be seen or attended (According to each

degree)

2. Practical procedures to be seen and done

Remember

This document is only a guide. It is not an exhaustive list. It is not just a checklist to score points. It is a

guide to encourage you to read and learn more. This book is for your benefit. It will form a record of

your clinical training and experience.

2 – Supervisors Prof. Mohamed Saad Zaghloul

Prof. Solaf Mohamed Elsayed

Prof. Rabah Mohamed Shawky

Prof. Mohamed Abd-Eladl El-Sawi

Prof. Karam Abdelaleem

Prof. Ezzat Elsobky

3–Tables for Training Records

Candidates are required to fulfill 75% of the listed activities in order to be eligible for the exam entry. The

minimum number required for each activity = 75%. You are free to attend more and record your extra

attendance.

Weekly Department Plan

(Medical and Clinical Genetics)

Day /time Saturday Sunday Monday Tuesday Wednesday Thursday

Bedside education * * * * * *

Conference 11:30

Clinical round * * *

Genetics Clinic * * *

Genetics Lab * * *

Genetic seminars 9-11

other non- weekly activity

Medical Genetics conference

Thesis discussion in Medical Genetics

30

Conferences attendance

(NB. Minimum number required is 6)

No

Date

Pla

ce

Topics Supervisor signature

1

2

3

4

5

6

Genetics Seminars attendance


No Date Place Topics Supervisor signature

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

16

17

18

19

20

21

22

23

24

25

26

27

28

29

30

31

31

32

33

34

35

36

37

38

39

40

Genetics and pediatrics Thesis attendance


No Date Place Name of the thesis Supervisor signature

1

2

3

4

5

6

7

8

9

10

Genetics Clinics attendance


No Date Place Name of the Clinic Supervisor signature

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

16

17

32

18

19

20

21

22

23

24

25

26

27

28

29

30

31

32

33

34

35

36

37

38

39

40

41

42

43

45

46

47

48

49

50

51

52

53

54

55

56

57

58

59

60

61

62

63

33

64

65

66

67

68

69

70

71

72

73

74

75

76

77

78

79

80

81

82

83

84

85

86

87

88

89

90

91

92

93

94

95

96

97

98

99

100

101

102

103

104

105

106

107

108

34

109

110

111

112

113

114

115

116

117

118

119

120

Bedside Education (Tutorials) Attended


No Date Place Name of the tutorial Supervisor signature

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

16

17

18

19

20

21

22

23

24

25

26

27

28

35

29

30

31

32

33

34

35

36

37

38

39

40

Genetic Case presentations


No Date Place Diagnosis Supervisor

signature

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

16

17

18

19

20

Patients to be seen with the following problems

(A minimum of 75% of total cases is required to be seen)

Primary diagnosis Number Supervisor signature

36

Required Seen

Phenylketonuria and Other aminoacidopathies 5

GSD 2

MPS 5

Other Lysosomal storage diseases 5

Perixisomal disorders 2

Wilson’s disease optional

Chromosomal disorders

Primary diagnosis Number Supervisor signature

Required Seen

Down syndrome 10

Trisomy 13 2

Trisomy 18 1

Turner syndrome 5

37

Klinefelter syndrome 1

Fragile X 5

Chromosome deletion

syndromes

2

Disorders of sex differentiation

Disorders of sexual development

(TF, ambiguous genitalia,

intersex), Congenital adrenal

hyperplasia )

3

Developmental and behavioral Genetics

Developmental delay and mental retardation 10

Autism spectrum disorders 1

Common behavioral problems 1

Dysmorphic syndromes

38

Rubinstein Taypi syndrome optional

Cornelia deLange syndrome optional

Laurence Moon Biedl syndrome optional

Absent radius associated syndromes 1

Smith Lemli Optiz syndrome optional

Holoprosencephaly 2

FGFR syndromes optional

Russell Silver syndrome 1

Seckel syndrome 1

Overgrowth syndromes 1

Neural tube defects 2

Dermatological disorders

Oculocutaneous albinism 2

Ichthyosiform Dermatoses 1

Epidermolysis Bullosa 1

Ectodermal Dysplasias 1

Connective tissue disorders

Marfan Syndrome and Other Disorders

of Fibrillin

1

Ehlers-Danlos Syndrome optional

Genetic counseling

Genetic counseling

10

39

Endocrinologic disorders

Pituitary disorders (growth disorders, short

stature)

6

Thyroid disease 2

Pubertal disorders 2

Neurologic disorders

Microcephaly 5

Hydrocephalus 2

Huntington chorea optional

Ataxia telangiectasia optional

Neurofibromatosis 1

Tuberose sclerosis 1

Spinal muscle atrophy 2

Neuromuscular disorders

Duchenne muscular dystrophy

5

40

Cardiovascular disorders

Congenital acyanotic

heart disease

5

Congenital cyanotic heart

disease

5

Genetic diseases of the renal system

Renal tubular disorders, fanconi syndrome 1

Hematology/Oncology

Bleeding and clotting disorders 3

Thalathemia, and

hemoglobinopathy

5

Skeletal dysplasias and bone modeling disorders

Achondroplasia 2

Others skeletal disorders and

Osteogesis imperfecta

2

Deafness and ear malformation

Waardenburg syndrome optional

Goldenhar syndrome optional

Treacher Collins syndrome optional

Practical skills (Agreement Scale)

Requirements

41

Candidates are required to fulfill 75% of the listed activities in order to be eligible for the exam entry. The

minimum number required for each activity = 75%. You are free to attend more and record your extra

attendance.

Item

No

Obse

rved

Date

assi

sted

Date

Done

indep

end

entl

y

(A, B

, C

)

Acc

ord

ing t

o e

ach

dep

artm

ent

Date

Su

per

vis

or

sign

atu

re

Karyotype

1

2

3

4

5

6

7

8

9

10

PCR

1

2

3

FISH 1

2

Aminogram 1

2

Ferric chloride 1

2

MPS spot test 1

2

a- Poor b- Satisfactory c- Excellent

Interpretation of investigative tools: (Minimum number required for each is stated )

Imaging

Plain X rays (10)

No Date Pt initials,

AGE/SEX Indication

Diagnosis Supervisor

signature

1

2

3

4

5

42

6

7

8

9

10

CT/MRI (10)

No Date PT initials,

AGE/SEX Indication

Diagnosis

Supervisor

signature

1

2

3

4

5

6

7

8

9

10

Karyotype reports (10)

No Date Pt initials,

AGE/SEX Indication

Diagnosis Supervisor

signature

1

2

3

4

5

6

7

8

9

10

5 - Log book preview

The candidate logbook will be reviewed and patients seen/ skills performed summarized by

diagnosis groups during the semester evaluation and at the end of the course in the table below. This

reflects the number of activity done by category. (According to each degree) The results of this review

will be totaled in the summary chart below.

Summary

Semester Total 1st 2

nd 3

rd 4

th 5

th 6

th Total

43

required

Activity No No No No No No

Genetic Conferences attendance 6

Genetics Seminars attendance 40

Genetics and pediatrics Thesis attendance 10

Genetics Clinics attendance 120

Bedside Education (Tutorials) 120

Early intervention Clinics 10

Prenatal Clinics 10

Genetics Case presentations 20

Patients to be seen

Practical skills

Karyotype 10

PCR 3

FISH 2

Aminogram 2

Ferric chloride 2

MPS spot test2 2

Interpretation of investigative tools

Plain X rays 10

CT/MRI 10

Karyotype reports 10

Supervisor signiture

VII - Head Of Department Approval For The Exam Entry

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_____________________________________________________________________________________

_

44

VIII – THESIS FOLLOW UP

ازمش٠ش اصف اغ ؼب /

ػ اطبت /

ام١ذ ذسخخ ) بخغ١زش / اذوزساح (

ثمغ /

رمش٠ش اغبدح االعبرزح اششف

لطغ شطب سذدا خغ ابدح اؼ١خ ثذأ

إز ادغ أشه ػ اإلزبء وزبثخ امذخ

لطغ شطب سذدا ادضء اؼ ثذأ

إز ازس١ أشه ػ اإلزبء

لطغ شطب سذدا بلشخ ازب ح ثذأ

إز ازسش٠ش أشه ػ اإلزبء

لطغ شطب سذدا اشاخؼخ اب ١خ غ اششف ثذأ

إزذ ربب أشه ػ اإلزبء

------------------------------------------------------------------------------------------------

اغبدح اششفسأ

ذ ام١ذ إعزشاس ل١ذ اطبت

شطت ل١ذ اطبت

ربس٠خ ازشى١ / / ر رشى١ دخ ابلشخ ؼ

ال

ذ / شطت ام١ذ

45

46



ػ اطبت /


غ /ثم



إز ادغ وزبثخ امذخ أشه ػ اإلزبء

لطغ شطب سذدا ثذأ ادضء اؼ






------------------------------------------------------------------------------------------------

سأ اغبدح اششف



ر رشى١ دخ ابلشخ ؼ ربس٠خ ازشى١ / /

ال


47

48



ػ اطبت /


ثمغ /


لطغ شطب سذدا ثذأ خغ ابدح اؼ١خ





إز ازسش٠ش ه ػ اإلزبء أش



------------------------------------------------------------------------------------------------





ال


49

50



ػ اطبت /


ثمغ /



إز ادغ أشه ػ اإلزبء وزبثخ امذخ


ازس١ إز أشه ػ اإلزبء



لطغ شطب سذدا ششف ثذأ اشاخؼخ اب ١خ غ ا


------------------------------------------------------------------------------------------------




ؼ ربس٠خ ازشى١ / / ر رشى١ دخ ابلشخ

ال


51

52



ػ اطبت /

بخغ١زش / اذوزساح (ام١ذ ذسخخ )

ثمغ /




لطغ شطب سذدا دضء اؼ ثذأ ا






------------------------------------------------------------------------------------------------

دح اششفسأ اغب



ربس٠خ ازشى١ / / ر رشى١ دخ ابلشخ ؼ

ال


53

54



ػ اطبت /


/ثمغ




لطغ شطب سذدا ثذأ ادضء اؼ






------------------------------------------------------------------------------------------------





ال


55

56

VIII – EVALUATION FORMS

Evaluation Form (at the end of each semester)

To be completed at -------------------------------------

Candidate

Supervisor

Location

Aim of training

_______________________________________________________________________________________________________

_______________________________________________________________________________________________

Agreed educational objectives and timescale in which objectives should be achieved.

_______________________________________________________________________________________________________

_______________________________________________________________________________________________

Comments by Candidate

_______________________________________________________________________________________________________

_______________________________________________________________________________________________

Comments by Supervisor

_______________________________________________________________________________________________________

_______________________________________________________________________________________________

__________________________________________________________________

Date of next meeting

Signed by candidate

Signed by Supervisor

Date

57

58




Candidate

Supervisor

Location

Aim of training

_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________

__________________________________________________________________


Signed by candidate


Date

59

60




Candidate

Supervisor

Location

Aim of training

_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________

__________________________________________________________________


Signed by candidate


Date

61

62




Candidate

Supervisor

Location

Aim of training

_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________

__________________________________________________________________


Signed by candidate


Date

63

64




Candidate

Supervisor

Location

Aim of training

_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________

__________________________________________________________________


Signed by candidate


Date

65

66




Candidate

Supervisor

Location

Aim of training

_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________


_______________________________________________________________________________________________________

_______________________________________________________________________________________________

__________________________________________________________________


Signed by candidate


Date

67

68

Degree Program Evaluation Form By The Candidate

To be completed at the end of your degree.

Please consider each pair of statements and decide which most clearly reflects your view and tick one box or answer the

question.

I. Individual Information

1. Are you a graduate of ASU?

yes no to some degree

2. Year and semester when studies began:

II. General Questions

1. What are the advantages/disadvantages of the general study environment at the University ASU?

2. What were your expectations when you applied to the degree?

3. Do you feel that the degree program prepares you well for your future studies or employment according to the demands and

expectations of those institutions?


4. Has the time limit of the program (two or three academic years) caused you any difficulties or inconveniences?


III. Structure of Degree Program

1. Did you receive enough guidance in planning your study schedule in the beginning of the program?


2. What were the main difficulties in the planning of your study schedule?

3. What is your general opinion on the structure of the degree program?

4. In your opinion, does the degree program offer a good balance of lectures, seminars, conferences, and book exams?


a) General Studies

i) Do you feel that you have received enough guidance on academic writing?


ii) Do you feel that you have acquired sufficient knowledge on research skills (eg. quantitative and qualitative research

methods)?


b) Courses

i) Have you had some special difficulties in completing some of the courses? Please specify.

ii) Has there been a sufficient variety of courses offered for your optional studies?


iii) Have you received enough guidance for the preparation of your thesis?


69

IV. Concluding Points

1. Did the degree program meet your expectations?


2. What aspects of the degree program do you particularly like?

3. What aspects of the degree program do you particularly dislike?

4. What are your suggestions on how to improve the program?

Thank you!

Documents

Pediatric department - Ain Shams Universitymed.asu.edu.eg/uploads/med/Doctorate_degree_in_medical_and_clin… · As a department we are committed to medical student education and