Talk:2011 Group Project 6

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Revision as of 00:54, 6 September 2011 by Z3291423 (talk | contribs)

Group 6: User:z3290841 | User:z3291317 | User:z3291324 | User:z3291423


--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

factors effecting early surgery
low birth weight
simultaneous cardiac anomalies

Hey Peepz

I just finished the sections of History, Signs and symptoms and Epidemiology

just please check these sections, especially the epidemiology one, do yous want it more detailed or is it enough?

z3291324 your section seems alright so far, show us your edited version so we can fully critic it then.

p.s. the post below my one i dont really understand itl who is speking to who and what are yous refering to? lol

Regards --Z3291317 23:44, 4 September 2011 (EST)

j: the article on future treatment directions sounds good. i might add some of the info in to the pathophysiology section because it links in well with the pulmonary stenosis and right ventricular hypertrophy. --z3291324 13:47, 2 September 2011 (EST) I think this article makes some good points which could be added into the treatment section (eg discuss treatment/surgery after birth and also follow up treatments in adulthood- pulmonary valve replacement etc due to valvular incompetence and regurgitation because of the growing heart)


hey guys. ive written some basic notes (UNEDITED) for pathophysiology. Just want to get an idea of how much detail i should go into before i start adding links to journal articles etc. can someone please have a quick look through and give me an idea of how much more detail is needed. thanks :)

The four features of tetralogy of fallot are pulmonary stenosis, overriding aorta, ventricular spetal defect and right ventricular hypertrophy. These features result from the anterosuperior displacement of the infundibular septum. The severity of symtpoms is determined by the extent of right ventricular outflow obstruction.

Pulmonary stenosis (Symptoms include cyanosis, right ventricular hypertrophy, hepatomegaly and peripheral oedema (of the legs). More mild symptoms include sudden fainting and dizziness from exercise. )

Valvular or infundibular stenosis (narrowing of the outflow tract of the right ventricle). Obstructs the outflow of blood from the right ventricle reducing pulmonary flow. If the pulmonary stenosis is mild, a left to right shunt (with no cyanosis) will form, due to the higher pressure in the left ventricle. However, significant pulmonary stenosis can raise right ventricular pressure above the left ventricular pressure and cause a right to left shunt (cyanosis etc). The pathophysiology of pulmonary stenosis usually worsens with age because the pulmonary orifice stays the same size despite an increase in the size of the heart.

Overriding aorta The aortic valve has a biventricular connection. Instead of being positioned over the left ventricle, the aortic valve is located above the interventricular spetal defect allowing blood from both the right and left ventricles to pass through the aortic valve. The degree to which the overriding aorta is continuous with the right ventricle determines the severity of symptoms. Because the right ventricle receieves deoxygenated blood from the systemic circulation, the percent oxygenation of bloood entering the aorta and hence back into the systemic circulation is decreased.

Ventricular septal defect The interventricular septum dividing the left and right ventricles is incomplete at its superior, membranous end. During ventricular contraction, blood from the left ventricle passes into the right ventricle and then re-enters the pulmonary circulation. Leakage of blood from the left to right ventricle raises the right ventricular volume and pressure resulting in pulmonary hypertension. (Shortness of breath, dizziness and fainting) If the right ventricular pressure exceeds that of the left, the left to right shunt is reversed and the patient will experience cyanosis and deoxygenated blood is by-passing the lungs and entring the systemic circulation. (also breathlessness, poor feeding and failure to thrive in infancy.)

Rigth ventricular hypertrophy Compensatory response to pulmonary stenosis be contined.

--z3291324 13:38, 2 September 2011 (EST)

link to pathology textbook

hey guys, this is the link to tetralogy of fallot in robbins pathology --z3291324 13:05, 2 September 2011 (EST)

More genetics and Surgery

Hey Peeps, i forund another article in regards to Genetics as it does an genotype-phenotype anaylis os TOF Patients. Have a read and see if it can help in the assignment subsection. if you cant get the full article tell me and ill give you the pdf of it.

Article: PMID: 19948535

And Regards to surgery and its prognosis post-operation i found these articles that may be helpful for 3291423. Again if yous cant find the pdf tell me and i'll send yous the pdf articles of these.

Articles: PMID: 20091166 ; PMID: 21769263 ; PMID: 21566339 (hey 3291423 this is the article i showed you in the lab and you wanted it from me)

Anyways peeps i hope all the assignments are coming along well

Regards --Z3291317 19:03, 1 September 2011 (EST)

REPLY: Thanks z3291317, I had a look through the files and am using them now for summarising :) also, can you send through the picture of what you want the abnormal TOF heart to look like and ill get cracking on it to produce/draw it :)

regards --z3291423 22:15, 1 September 2011 (EST)


Hey guys, found some articles relating to genetics and the deletion of the 22q11 gene. take a look :) --z3291423 21:09, 27 August 2011 (EST)

AS Bassett, EWC Chow and J Husted et al., Clinical features of 78 adults with 22q11 deletion syndrome, Am J Med Genet 138 (2005), pp. 307–313.

Treatment and future directions info/readings

Hey guys, found this really amazing article about treatments and their repercussions --z3291423 21:09, 27 August 2011 (EST)

Online lab 4 info

I my friends , colleagues and countrymen am going to be undertaking the research of the subsection Genetics/Aetiology in the topics that have been discussed. --z3290841 10:18, 25 August 2011 (EST)

Im going to be researching Treatment/Management, Prognosis & Future directions. - z3291423

regards, --z3291423 23:30, 24 August 2011 (EST)

Thanks for typing them up. I'm going to research Pathophysiology and abnormalities and diagnostic tests. --z3291324 15:40, 24 August 2011 (EST)

Hey Group 6

From the Meeting on Tuesday after the Embryo lecture, we had concluded that we are going to divide the group project of TOF into the following sub-sections (if i am not mistaken):

  • Introduction
  • History
  • Epidemiology
  • Signs and Symptoms
  • Genetics/Aetiology
  • Pathopgysiology and Abnormalities
  • Diagnostic Tests
  • Treatment/Management
  • Prognosis
  • Future Directions
  • Glossary
  • References

From these subsections, I (z3291317) will research the History, Epidemiology and Signs & Symptoms subsections of the group Project.

Just wanted to put forward my part for the group project :)

Regards --Z3291317 15:01, 24 August 2011 (EST)


Hey Group 6

When i was looking around for info in regards to TOF, i found some videos on youtube made by an american hospital which we could use on our page in the "more info" section. Check them out and tell me what yous think...

- -

So what you guys think? --Z3291317 22:54, 21 August 2011 (EST)

COMMENT: great stuff! that really is a great tool, maybe we can incorporate that in as a link, or something to really explain it! without all the mumbo jumbo :) --z3291423 22:22, 22 August 2011 (EST)


Found really good article detailing some clinical aspects its called: The clinical anatomy of tetralogy of Fallot, - Tetraology of ballot by christian apitz, just google scholar it via unsw or use the link I've given you :) --z3291423 19:10, 20 August 2011 (EST)


Hey guys, this is an image of tetralogy of fallot with pulmonary atresia

Tetralogy of Fallot with pulmonary atresia.jpg --z3291324 22:07, 17 August 2011 (EST)

Hey guys, just found this still frame showing large ventricular septal defect, aortic override, and right ventricular hypertrophy which are all very common to patients with ToF Some common effects for patients with Tetralogy of Fallot.jpg --z3291423 21:43, 17 August 2011 (EST)

Hey guys this is my image of our disease, it is just outlining some of the basic changes that happens to the heart, mainly the right ventricle.

Right ventricle of heart with Tetralogy of Fallot.jpg

--z3290841 13:42, 17 August 2011 (EST)

Hey Group 6, its z3291317

I just wanted to make it clear that we add all new entries into our discussion page at the top of the page and not at the bottom of it. Thats how we are told to edit this discussion page.

Anyways this is my Image for Lab 3 Question 2:

Normal fetal blood flow and Tetralogy of Fallot.jpg

I hope it would be beneficial for our page...

--Z3291317 12:05, 17 August 2011 (EST)

--Z3291317 17:00, 7 August 2011 (EST) Hey Group 6

i just done some research on a possible group project subject. It is quite detailed and interesting (to me) disease to write on.What do you guys think? Here is the review and research article for it:

The Disease:Tetralogy of Fallot

Review Article:

Orphanet J Rare Dis. 2009 Jan 13;4:2.

Tetralogy of Fallot.

Bailliard F, Anderson RH.

North Carolina Children's Heart Center, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Link: [1]

Description: This paper gives an overview about the disease, how it happens, and clinical manifestations.

Research Article:

J Med Genet. 2010 May;47(5):321-31. Epub 2009 Nov 30.

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.

Institute of Medical Genetics, Schorenstrasse 16, CH-8603 Zurich-Schwerzenbach, Switzerland.

Link: [2]

Description: A study was done to see the prevalent phenotype for Tetralogy of fallot, and it was found that the 22q11.2 deletion was the most common type in Tetralogy of Fallot.


  1. <pubmed>19144126</pubmed>
  2. <pubmed>19948535</pubmed>

--Z3291317 17:00, 7 August 2011 (EST)

--z3290841 09:36, 8 August 2011 (EST)

Hey Guys,

I did research on Cystic fibrosis and these are the 2 articles that I found that explains a lot about the disease, and the genetic research on it.

Review Article:

Cystic Fibrosis: Seminar

Description: This is basically outlining the pathophysiology of the disease, disease manifestation,current treatments diagnostic tool.

Ratjen F & Doring G.(2003).Cystic Fibrosis: Seminar.The Lancet, 361, 681-9. Retrieved from

Research Article:

Gene expression profile study in CFTR mutated bronchial cell lines

Description: This article provides information about the severity of gene expression in relation of the extent or type of mutation.

Gambardella S, Biancolella M, D'Apice M, Amati F, Sangiuolo F, Farcomenti A, Chillemi G, Bueno S, Desideri A & Novelli G.(2006).Gene expression profile study in CFTR mutated bronchial cell lines.Clinical and Experimental Medicine , 6, 157-65. Retrieved from

--z3290841 09:36, 8 August 2011 (EST)

--z3291324 20:48, 10 August 2011 (EST)

Hey guys, I like the disease that Furkan found (tetralogy of fallot)! What does everyone think?

These are the two articles I found. The review article gives a pretty good description of the disease, symptoms, treatment and complications etc. The research article looks at some of the genetic causes.

Goldmuntz, E., Geiger, E., & Benson, D. W. (2001). NKX2.5 mutations in patients with tetralogy of fallot. Circulation, 104(21), 2565-2568.

Apitz, C., Webb, G. D., & Redington, A. N. (2009). Tetralogy of Fallot. Lancet, 374(9699), 1462-1471.

Hey kiddes just done some research! check it out, its about Hypoplastic left heart syndrome

Review article:

2001 May-Jun;21(3):705-17. Hypoplastic left heart syndrome. Bardo DM, Frankel DG, Applegate KE, Murphy DJ, Saneto RP.

Link: [1]


2011 Aug 1;108(3):421-7. Epub 2011 May 31. Prenatal diagnosis of hypoplastic left heart syndrome in current era. Kipps AK, Feuille C, Azakie A, Hoffman JI, Tabbutt S, Brook MM, Moon-Grady AJ. Link: [2]


1. Bardo DM, Frankel DG, Applegate KE, Murphy DJ, Saneto RP ""Hypoplastic left heart syndrome.""Radiographics. 2001 May-Jun;21(3):705-17 [1]

2. Kipps AK, Feuille C, Azakie A, Hoffman JI, Tabbutt S, Brook MM, Moon-Grady AJ ""Prenatal diagnosis of hypoplastic left heart syndrome in current era."" Am J Cardiol. 2011 Aug 1;108(3):421-7. Epub 2011 May 31 [2]

  1. <pubmed>11353117</pubmed>
  2. <pubmed>21624547</pubmed>