Genetic Research: X-linked NEMO gene mutation and role of stem cells (vs gene therapy)

CASE #1

In memory of Jack Hagelin (4 September 2002 - 27 March 2007)

This video was posted on 3 June 2006 after he was discharged from the transplant unit. Jack passed away peacefully surrounded with love at the Philadelphia Children's Hospital. He died from complications of pneumonia and after a 4½ year battle of a NEMO gene mutation with Primary Immune Deficiency and Ectodermal Dysplasia, two rare genetic disorders. His treatment included a Stem Cell Bone Marrow transplant. In his short 4½ years he has helped science gain more knowledge for this rare genetic condition. Through this knowledge he has helped other children with this same condition.

YouTube video source: Hit The Road Jack 
The above text was edited from the video source in YouTube.
--
CASE #2

There are rare genetic disorders. The story of a 3-year old Mexican boy named Andy whose parents are Andres & Paulina Trevino is a good read for all new students entering into medicine for the first time. Andy faces a life-long disease and there is no known cure for Andy's disease. Please read the life and struggle of little Andy here.

At the time, researchers did not yet connect the NEMO gene mutation with primary immune deficiency and ectodermal dysplasia. Researchers learned from Andy's DNA in October 2000 that a mutated NEMO gene causes both primary immune deficiency and ectodermal dysplasia. As a result of the mutated NEMO gene Andy has conical-shaped teeth, sparse hair, and a weakened immune system. A mutated NEMO gene is a "relay gene" controlling skin, hair, and immune systems.

Ectodermal dysplasia usually is manageable but can be deadly when combined with primary immune deficiency. For example, it may be difficult to clear an upper respiratory infection caused by poor mucus secretions in both the respiratory and nasal systems because of the weakened immune system.

Mutated NEMO genes block messages normally sent between the membrane and nucleus of the cell causing its defenses not to work.

A person with ectodermal dysplasia syndrome has poorly developed sweat glands, hair follicles, and conical shaped teeth caused by a NEMO gene mutation. Ectodermal dysplasia prevents sweating.

Most of the 150 types of ectodermal dysplasia syndromes are not fatal. All ectodermal dysplasia syndromes are acquired prior to birth through the X chromosome. Seven out of every 10,000 people have the syndrome according to "The Birth Defects Encyclopedia."

The above text was adapted from here.

Prof Faridah

List of textbooks and references for Year 1 Medicine, USM

I received a request from a parent whose son got accepted into our USM Medical School. The request is for a list of textbooks for Year 1 Medicine.



My comment for parents who are planning on buying medical textbooks for their children is, most textbooks are available in the medical library on campus. However, the medical library stocks only a few copies of most textbooks and reference books, and students often have to rush for such books. As such, some students will have problems getting hold of a copy to read before class or immediately after class.

For parents who can afford to buy textbooks for their children, please go ahead and buy them. Please purchase the most recent textbooks, or any book for that matter. There is Kamal Bookstore in KL which sells medical textbooks.

Here on campus, we organise book fairs or book sales and book vendors come to the campus to sell medical textbooks, often at cheaper price. Sometimes students can get good bargains and good copies of books, especially for missing pages (1-2 pages missing). Students can also make arrangement and place orders with the book vendors who will then post the books to the students.

New students can also purchase books from the 2nd-year students (students who passed Year 1 and are continuing Year 2). This can be done once students are on campus.

Otherwise, new students can join my Facebook (Faridah Abdul Rashid) and join the Phase 1 Group which is for Year 1 medical & dental students. New students can voice their concerns/queries/comments in my Facebook. I can pick up problems/concerns/queries/comments from my Facebook (if any) and try to help out new students.

Parents can also join my Facebook and I will try to help out in any way I can. Hopefully I can also help refer parents/students/queries to the right person(s), insyaAllah. Let's try make learning less of a hassle and more of fun and joy for all our children, insyaAllah.

Prof Faridah

BUKU TEKS DAN RUJUKAN

1.         ANATOMI

          Buku Teks

a.           Clinically Oriented Anatomy

                        Keith L. Moore; Williams & Wilkins: Baltimore

          b.          Functional Histology (a text and colour atlas)

                        Paul R. Wheater; Churchill Livingstone

          c.           Medical Embryology

                        Jan Langman; Williams & Wilkins: Baltimore

          d.          Neuroanatomi

                        Nah Seang Hoo; DBP: Kuala Lumpur

          Rujukan

a.           Clinical Anatomy for Medical Students

                        R.S. Snell; Brown: Boston.

b.          Histology - text and atlas

              Michael H. Ross; Williams & Wilkins: Baltimore

c.           Histology – an identification manual.

              Tallitsch, & Guastaferri, R. R.B.

              Mosby, Elsevier

d.          Clinical Neuroanatomy (for medical students)

              R.S. Snell; Little & Brown: Boston

e.           A text book of Neuroanatomy.

              Patestas, M.A. & Gartner, L.P.

              Blackwell Publishing

f.           The Developing Human

              K.L. Moore; W.B. Saunders: Philadelphia

g.          Basic Histology

Carlos Junqueira; Appleton & Lange

h.          P.L.W. Williams & R. Warwick

                        Churchill Livingstone

i.            Anatomi: Asas dan Klinikal-Anggota Atas

               Abdul Hamid Abdul Rashid and Mohamed Ruslan Abdul Halim.

               Dewan Bahasa dan Pustaka

2.      FISIOLOGI

          Buku Teks

a.           Textbook of Medical Physiology

              Guyton A.C.

              W.B. Saunders Co., Philadelphia

b.          Review of Medical Physiology

                        William F. Ganong

        Appleton & Lange, Norwalk CT

          Rujukan

          a.           Human Physiology

        Schmidt R.F.H. and Thews G.

        Springer Verlag

b.          Fisiologi Manusia

                        Raman, A dan Ruby Hussain

                        Fajar Bakti, Shah Alam

3.      BIOKIMIA

          Buku Teks

a.           Basic Medical Biochemistry: A Clinical Approach

              D.B. Marks, A.D. Marks & C.M. Smith

              Williams and Wilkins Co, Baltimore

b.          Biochemistry, (Lippincott’s Illustrated Reviews)

              P.C Champe and R.A. Harvey

              J.B. Lippincott Co

             

        Rujukan

a.           Harper’s Biochemistry

              Murray, R

              Appleton & Lange, Norwalk, CT

b.          Biochemistry

              Stryer, L., Jeremy M. Berg, John L. Tymoczko

              W.H. Freeman Co, New York

c.           Biochemistry: An Introduction

                        T. Mckee & J.R. McKee

                        WCB/McGraw-Hill

                       

d.           Human Metabolism: Functional Diversity & Integration

                        R.J. Bronk

                        Addison Wesley Longman Ltd.

e.         Principles of Medical Biochemistry

                        G. Meisenberg & W.H. Simmons Mosby

4.     FARMAKOLOGI

Buku Teks

a.           Basic and Clinical Pharmacology

              Katzung BG,

              Mc-Graw-Hill Co.

Rujukan

a.           Katzung, B.G. Basic and Clinical Pharmacology 11^th ed. Stamford: Appleton & Lange, 2009.

b.          Lippincott’s Illustrated Reviews 2009- Pharmacology 4^th ed.

c.           Goodman and Gilman’s the pharmacological basis of therapeutics 11^th ed. New York: McGraw-Hill, 2006.

http://www.loc.gov/catdir/enhancements/fy0645/2004063122-t.html QV4.P536

d.          Rang & Dale’s Pharmacology 6^th ed. Elsevier: Churchill Livingstone, 2007.

5.     IMUNOLOGI

Buku Teks

a.           Roitt`s Essential Immunology

              Roitt I.M, Delves P.J. & Roitt I

              Blackwell Publishers

Rujukan

a.                Medical Immunology,

              Parslow T.G. Stited D.P., Terr AJ.,  Imboden JB

              McGraw-Hill Co.

6.      HEMATOLOGI

        Buku Teks

a.           Essential Haematology

        Hoffbrand A.V, Moss P.A.H., Pettit J.E

        (2006) Blackwell Publishing, London

Rujukan

a.           Practical Haematology

              Dacie S.J.V. and Lewis S.M.

                        ELBS, Churchill Livingstone

b.          Clinical Haematology Illustrated (atlas)

              Hoffbrand, AV & Pettit, JE 2nd edition (1994)

             

7.     SAINS TINGKAHLAKU

Buku Teks

a.           Human Behaviour, An Introduction for medical students

        Alan Stoudemire

        J.B. Lippincott Co., Philadelphia

        Rujukan

a.           Behavioural Science. (The national medical series for independent study)

        Jerry M. Wiener

        Williams & Wilkins, Baltimore

          b.          Behavioural Sciences for Medical Student

F.S Sierles

                        Williams & Wilkins, Baltimore

c.           Introduction to Psychology

              Rod Plotnik

        Wodworth Pub. Company, USA

d.          Psychology of the Adaptive Mind

              James S. Nairne

              Wodsworth Pub. Company, USA

8.      MIKROBIOLOGI

Buku Teks

a.           Microbiology in Patient Care

              Wilson M.E., Mixer H.E. and Morello J.A.

              W.C. Brown, Dubuque, lowa

             

Rujukan

a.           Medical Microbiology, vol 1

                      Cruickshank R, Duguid J.P. Marmion B.P. and Swain R.H.A.

b.          MacKie & McCartney’s Practical Medical Microbiology

           MacKie, T., McCartney, JE & Collee, JG

           Churchill Livingstone

           

c.           Notes on Medical Virology

           Timbury, MC

           Churchill Livingstone

d.          Melnick and Adelberg’s Review of Medical Microbiology

           Jawetz, JL., Melnick, EA. Adelberg Jawetz

           Appleton and Lange, Norwalk CT

9.      PEMAKANAN

       

        Buku Teks

          a.             Present Knowledge in Nutrition

           Myrtle L Brown

          International Life Sciences Institute (ILSI)

Rujukan

          a.            Human Nutrition and Dietetics

                         Davidson, Passmore, Brock and Truswell

                         Churchill Livingstone

b.             Modern Nutrition in Health and Disease

Maurice and Shils

Lea and Febiger, Philadelphia

10.   PERTOLONGAN CEMAS

        Buku Teks

          a.             Pertolongan Cemas: Prinsip dan Amalan

Abdul Rahman Isa, Rusli Nordin, Abdul Manaf Hj. Hamid

          Crecent News (KL) Sdn Bhd

Rujukan

a.             First Aid Manual: The Authorised Manual of St. John Ambulance, St Andrew's Ambulance Association, and the British Red Cross.

                Dorling Kindersly Limited, London

11.    KEJURURAWATAN

       

        Buku Teks

a.             Clinical Nursing Skills. Basic to Advanced Skills

Sandra F. Smith, Donna J. Duell

Appleton & Lange, Colifornia

b.            Basic Nursing. Theory and Practice

Patricia A. Potter and Anne Griffin Perry

Mosby,  St. Louis

Rujukan

a.             Nursing  Issues in the 21st Century

Hein, E.C.

Lippincott, Philadelphia

b.             Current Issues in Nursing

Mc Closkey, J.C. & Grace, H.K.

Mosby,  St. Louis

c.             Fundamentals of Nursing Concepts: Process & Practice

Kozier, B.

Addison – Wellesly, California

SARS Story in Singapore 2003

This post provides the link that details how Tan Tock Seng Hospital (TTSH) in Singapore successfully combated SARS beginning 26 March 2003. Because of the rapid and effective measures taken by Singapore, Malaysia benefited too as SARS did not kill many in Malaysia.

http://www.semp.us/publications/biot_reader.php?BiotID=459

Communicable Diseases Centre (CDC), Singapore

Tan Tock Seng Hospital (TTSH) was completed in 1998 and opened on 1 April 2001. It has the busiest Emergency Department (ED) in Singapore. Waiting at the ED to get a bed can be from a few hours to many hours.
Tan Tock Seng Hospital (TTSH) Directions  TTSH Description

--

DEHP contamination

The Disappearing Male due to food contamination by artificial hormones

From AVA Singapore:
http://www.ava.gov.sg/

UPDATE ON PRODUCTS TESTED FOR DEHP CONTAMINATION

 

10 June 2011: AVA has been testing beverages, jams and jellies manufactured in Taiwan, for DEHP, in view of the DEHP contamination situation in Taiwan. Please click here for the latest list of brands that have been tested by AVA and those suspended from import.
Consumers need not be unduly concerned as all affected products have been recalled and suspended from import. Nevertheless, consumers who have bought the affected products are advised to discard the products and not consume them.

From Wikipedia:
http://en.wikipedia.org/wiki/Bis%282-ethylhexyl%29_phthalate