Difference between revisions of "Talk:2011 Group Project 6"

From Embryology
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Table Test! --[[User:Z3291423|z3291423]] 22:16, 16 September 2011 (EST)
Table Test! --[[User:Z3291423|z3291423]] 22:16, 16 September 2011 (EST)
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| Type of Shunt
| '''Type of Shunt'''
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| Reasons for it not being used
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| Pott’s Shunt  
| Pott’s Shunt  

Revision as of 23:18, 16 September 2011

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

Table Test! --z3291423 22:16, 16 September 2011 (EST)

Type of Shunt Description Reasons for it not being used Image
Pott’s Shunt This shunt is a connection that is established between the lower part of the Aorta (on the left side of chest) to the left branch of the Pulmonary artery. The shunt has a tendency to increase the pulmonary blood flow and it is also very hard to close when complete repair is undertaken Insert image
Waterston Shunt This shunt was placed between the back of the Aorta, to the right branch of the pulmonary. This shunt’s use is more suited to those with pulmonary artery stenosis and also the procedure is quite difficult to perform. Insert Image
Glenn Shunt The Super Vena Cava is anastomosed via a shunt to the right pulmonary artery. This procedure is very complicated and difficult to perform, also complete repair becomes a laborious task. Insert image

Table test (fingers crossed!) --Jacqueline Ellero 10:49, 15 September 2011 (EST)

TOF diagnostic techniques

This table describes different diagnostic tests for TOF
Diagnostic technique How the procedure works Presentation in TOF patient Image
Physical examination TOF is often diagnosed during fetal life by echocardiography (Apitz, Webb, & Redington, 2009). If TOF is not detected during fetal life, certain signs and symptoms at birth may alert the need for further investigation. These signs and symptoms include mild to moderate cyanosis, which worsens when the baby cries, difficulty feeding and difficulty gaining weight. However, TOF often goes undiagnosed until adult life. Most adult patients will appear normal, however, some may present with cyanosis and clubbing of the fingers. The jugular venous pressure is usually normally (raised jugular venous pressure often indicates right ventricular failure). If the aorta is pushed to the right (so it is continuous with both the left and right ventricle), a lift below the right sternoclavicular joint may be noted. (Somerville, 1993) Insert text here Insert physical examination image
Heart murmurs Heart murmurs are sounds caused by the turbulent flow of blood. They are heard using a stethoscope. They are often the result of problems including valvular stenosis (narrowing of valves), valvular regurgitation (leakage of valves due to incomplete closure) or defects in the heart wall allowing blood to flow in unusual directions. Examination of the heart of a patient with TOF may reveal a loud second heart sound (produced by the closure of the pulmonary valve). A harsh systolic ejection murmur may be heard and a palpable thrill may be felt along the left sternal border. These sounds occur because the pulmonary outflow tract is obstructed. Although this murmur is often present, sometimes it may be short or difficult to hear and is often missed on physical examination. A pansystolic (occurring throughout the whole of systole) murmur may also be heard. This type of murmur occurs due to the ventricular septal defect between the left and right ventricles. The increased pressure in the left ventricle forces blood back into the right ventricle, causing a murmur, which lasts the whole of systole (contraction phase). http://ccjm.org/content/77/11/821.full Insert heart murmur image
Electrocardiogram Once TOF is suspected, electrocardiogram and chest radiographs are performed. Electrocardiography is used to assess the electrical activity of the heart. The electrical activity is detected by electrodes, which are placed on the skin of the patient and recorded by an external device. The electrocardiogram is extremely important in detecting a right bundle branch block (a block in the electrical conducting system of the heart), which is common in patients with TOF. An electrocardiogram will also reveal a heart that is deviated slightly to the right and an enlarged right ventricle due to the ventricular hypertrophy.(Somerville, 1993) Insert electrocardiogram image here
Chest radiograph A chest radiograph (or chest x-ray) uses ionising radiation to develop an image of the patient’s chest. It is used to diagnoses many conditions including the thorax and structures within the thoracic cavity including the heart, lungs and major blood vessels entering and leaving the heart. Chest radiographs are often used to screen for certain diseases but further tests are required for a definitive diagnosis. In a patient with TOF, a chest radiograph will demonstrate a prominent right ventricular shadow, giving the heart a boot-like appearance, which is typical of patients with TOF. The right ventricular hypertrophy causes the apex of the right ventricle to rise on top of the relatively unfilled left ventricle, giving the heart its boot-shaped appearance on examination. (Bailliard & Anderson, 2009) The radiograph will also show a right-sided aorta in approximately one-quarter of patients. (Somerville, 1993) Insert CXR image here
Echocardiogram An echocardiogram (also called a cardiac ultrasound) is performed to confirm the above findings. Echocardiography uses ultrasound to produce two-dimensional (and now also three-dimensional) images of the heart. It assesses cardiac tissue, valve function, the velocity of blood flow and any abnormal communications within the heart. The echocardiogram identifies important abnormalities of the heart including obstruction of the pulmonary outflow tract, the size of the pulmonary arteries, the degree of aortic override and the size of the defect in the interventricular septum. (Bailliard & Anderson, 2009) Insert echo image here
Magnetic resonance imaging Magnetic resonance imaging (MRI) is evolving as the most important technique for evaluating the size and functioning of the right ventricle. An MRI machine uses a magnetic field to produce a detailed image of the scanned area of the body. It is especially useful in viewing soft tissues as it provides greater contrast than techniques such as x-ray. MRI’s are important in assessing pulmonary valve competence and the severity of regurgitation (the amount of blood that flows back into the right ventricle due to the incomplete closure of the pulmonary valves) in patients with TOF. It can measure the volume and mass of the right and left ventricles and can assess the degree of pulmonary outflow tract obstruction. Finally, MRIs are important in measuring the degree of ventricular septal defect. (Somerville, 1993) Insert MRI image here

Hey peeps just put a intro just as a draft...tell me what you guys think of it. Edit it as you may wish.... And Jaq, if you describe briefly how each test works it would be good, regards --Z3291317 23:16, 14 September 2011 (EST)

hey jaz, ive fixed up the diagnosis, but feel free to add anything! or let me know if you think i should add anything. --z3291324 10:06, 14 September 2011 (EST) should i describe each diagnostic test!!??--z3291324 10:07, 14 September 2011 (EST)

Hey Guys! just added a very few changes, links etc to treatment. I've begun to add make a bit of notes on diagnosis that could just add a bit of detail to the diagnosis section. just wondered if any of you guys know what particular section of the ECG indicates...Left Ventricular Hypertrophy etc maybe ill call up a cardiologist :P nonetheless ill add references and some things to diagnosis tmrw night. regards, --z3291423 00:15, 14 September 2011 (EST)

Hey jaq. no particular order, the referencing system in the wiki automatically arranges it according to the order it is found in the text. In text referencing is NEEDED, lol. Type in the text title into Pubmed and when the article is found, the pmid code will be found at the bottom of the abstract for that article. if you cant figure out how to reference, put in the pubmed ids as intext citations then ill fix it for you...Make pathophys a bit more simpler, but do not compromise the anatomical words, i.e. write the anatomical word, then write in brackets what it means, eg. ...anterolaterally (at the top away from the midline) is just an example (a crap one to lol). Also did you find any new info for diagnostic tests? and Rom, why did you remove info from the 22q section???? regards --Z3291317 22:02, 13 September 2011 (EST)

hey guys, quick question about the referencing. are they in any particular order? or should i just add mine to the end of the list? and do we need to do in-text referencing?? and how do you find the pmid code? also, any suggestions on how i should improve pathophys? ie make it more anatomical based or reword it so its simpler? thanks --z3291324 21:30, 13 September 2011 (EST)

Hey Rom, looking good thus far. if you need help with referencing even after trying so much i can help you during the 1 hour we have afta the lecture tomorrow to go through and help you fix em up... its a bit tricky but can get a handle of it... --Z3291317 20:37, 12 September 2011 (EST)

Hey guys sorry for the delay, but I'm slowly uploading all my stuff up. I'm just a bit confused about how I do the reference tag thing, as you can see there is a massive red thing on our reference list. I tried copying how you guys did it but I failed at it. I'll be posting some more in the next couple of hours, I just need to get a hang of this coding thing gah! --z3290841 19:36, 12 September 2011 (EST)

hey rommel, we really need to see your part of the project and get your suggestions on parts we have done because its due on thursday --z3291324 19:16, 12 September 2011 (EST)

Hey Peeps, Just reconstucted the referencing so they are done exactly as it should be... Also just uploaded a pic of Mr fallot Himself without any copyright restrictions ( aha ow ye ow ye, took me long before i found it lol). I left the intext references jac and jaz put in their sections for future reference. Thats about it for now... Jaz i hope u liked the pics i showed you, and i hope rom is going well in his section... See yous soon... Regards --Z3291317 17:36, 11 September 2011 (EST)

update: uploaded the drawn images, took ages but its finally done :) and I've just finished the future directions :) so it should be fine to edit and look over in the next couple of days! regards --z3291423 13:16, 11 September 2011 (EST)

looking good jaz. thanks for the articles fru. ive had a quick look at them but will need to fix it up after work this arvo! --z3291324 11:59, 11 September 2011 (EST)

Hey Jac, ive got 2 articles that i will send to your email, both talk about Cardiac Magnetic Resonance, one some detail about electrocardiography. Also, Jaz i have an article that has a section based on 'Future Innovations' for TOF, have a read and i reckon it will help out with the future directions part... i will send these articles to your emails so look at them when yous can... and rom, you breathing my friend?... regards --Z3291317 01:29, 11 September 2011 (EST)

hey guys, just reworded diagnosis so it makes sense. can anyone suggest any good articles to read for diagnosis? im having trouble accessing a lot of articles (they keep asking for passwords) and a lot of the articles dont discuss diagnosis in much detail at all. help is much appreciated!! thanks :) --z3291324 21:12, 10 September 2011 (EST)

hey rom, this might be helpful for genetics. not sure what youve got already though http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2747103/ --z3291324 20:50, 10 September 2011 (EST)

also what should i do about the symptoms-pathophys overlap. should i alter the pathophys so its more anatomical like in the below article??--z3291324 20:10, 10 September 2011 (EST)

On to it now fru. thanks for the article. should i reword pathophys too so its easier to read/understand?--z3291324 20:08, 10 September 2011 (EST)

Hey Fru: in regards to the below comments, im working on future directions now :) also i read through the history section and it seems a lot more better :) just one mistake is the "durng such operations there need". Ill have my edited prognosis and futures up by tonight! :) ohh and the heart! regards --z3291423 11:03, 10 September 2011 (EST)

Hey Jac i was reading the article: Review - Tetralogy of Fallot by Frederique Bailliard and Robert H Anderson ( im sure you have this one) and theres a section absed on " Anatomical variants of Tetralogy of Fallot, and associated anomalies". i believe if you could also include this section into the Pathophysiology section it would be great! Furthermore would you please do the things Mark said in regards to your sections it would be good, especially the diagnostic tests part :). Also to everyone we need to get Future Directions and especially Genetics up ASAP! thus respective people have them completed asap. --Z3291317 22:49, 9 September 2011 (EST)

Hey jaz, the prognosis sounds pretty good. maybe expand/explain how the hypoxic spells, brain abscesses etc cause death. i think in general we could expand upon most sections. off to work now guys but ill fix up my couple of sections tonight/tomorrow morn! --z3291324 08:30, 9 September 2011 (EST)

Thanks Fru! I will definitely crack onto those suggestions, I'm going to first email the owner of the children's hospital video on youtube to get permission for using the video, and then ill put it up in my section. ALSO, I've nearly done the picture! I've got an outline and as your reading this, i should have it coloured, labelled and ready for upload! :D

have a great weekend guys!

Reagards --z3291423 23:29, 8 September 2011 (EST)

Hey jaz just read your prognosis section. You made it well, however,i picked up 2 things you could do and it woould be good if you do them: 1. The causes of death after no surgery has done; if you can explain how these 'causes of death' occur due to TOF, it will portray the role TOF has in these problems. 2. You should talk about any complications that could arise in both patients that dont have corrected TOF and the ones who do have the surgery (i.e. any conditions that could develop after having the surgery or not, not just the death of the patient if they dont correct their heart). Other than that great work! :) --Z3291317 23:17, 8 September 2011 (EST)

Ye Jaz, thanks for the pic. Aswell ive attached a reviewed file of the treatment section on an email i sent to you. Maybe the youtube cideo based on the TOF fix up can now be put under this section as an embedded video... --Z3291317 22:19, 8 September 2011 (EST)

hey jaz, the treatment section is much better, much easier to read. thanks for the heart pic! im pretty sure my section is he one that is too "verbose" so anyone feel free to fix it up--z3291324 19:47, 8 September 2011 (EST)

Hey Guys! sorry prognosis took me a bit longer to do, but It will be up by tonight :) and ill upload the heart pic as well :) which took forever to make! regards --z3291423 16:05, 8 September 2011 (EST)

hey guys just put up some diagnosis, let me know if you want me to add anything to it. furkan, glossary looks good! rommel, how are you going with the genetics do you need any help? and jaz are you able to post up the prognosis? once they are all up we should go through and edit them all together and fix up the wording. --z3291324 15:50, 8 September 2011 (EST)

Hey peoples...im going to start constucting the glossary wordbank as i read the entire document. Please add words yous think i missed out on... Also i found a pic of Mr Fallot but i think theres copyright rights on it. i think i gotta clear it somehow...--Z3291317 19:19, 7 September 2011 (EST)

hey jaz, i think the treamtment section is alright. maybe reword the first bit into sentences (i think it was the bit on how severe the cyanosis is) so its a bit clearer. but otherwise good :) what do you think about pathophys?--z3291324 12:40, 7 September 2011 (EST)

hey guys, i cant tell if this pic has copyright or not. can someone please have a look for me? http://www.nhlbi.nih.gov/health/health-topics/topics/tof/ thanks!--z3291324 09:49, 6 September 2011 (EST) --> REPLY: I looked at the pic and looks great. however, i couldnt see if it was copyright or not. HOWEVER, it is found on a public government website, and from what i remember Mark said we can use these materials. To make sure just please check it with him aswell. Also, im going to format your pathophysioligy section now so it looks prettier :)--Z3291317 19:19, 7 September 2011 (EST)

Hey guys, i Just finished the Treatment part, I've got palliative in this heading to still complete but Its very brief so i thought id get cracking on getting that drawing done and also the prognosis will be up by tomorrow! also check this out! http://www.nemours.org/content/dam/nemours/www/filebox/service/medical/cardiology/defect/tof.swf --z3291423 23:57, 5 September 2011 (EST) -->REPLY: Cool animation. Would we use an external link to this animation due to copyright restrictions?--Z3291317 19:19, 7 September 2011 (EST)

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 ...to 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. http://pediatrics.aappublications.org.wwwproxy0.library.unsw.edu.au/content/112/1/101



Treatment and future directions info/readings

Hey guys, found this really amazing article about treatments and their repercussions http://www.ccjm.org/content/77/11/821.long#abstract-3 --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...

- http://www.youtube.com/watch?v=ACRfFkxow7w - http://www.youtube.com/watch?v=jgLC2QABcxo

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 http://journals.cambridge.org.wwwproxy0.library.unsw.edu.au/action/displayAbstract?fromPage=online&aid=331031 its called: The clinical anatomy of tetralogy of Fallot, http://www.sciencedirect.com.wwwproxy0.library.unsw.edu.au/science/article/pii/S0140673609606577 - 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. frederique_bailliard@med.unc.edu

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. anita.rauch@medgen.uzh.ch

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 http://www.sciencedirect.com/science/article/pii/S0140673603125676

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 http://proquest.umi.com/pqdlink?Ver=1&Exp=08-05-2016&FMT=7&DID=1187181501&RQT=309&cfc=1

--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>