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Group 11

Group 11


Lab 1. not enrolled yet

Lab 2. --Tahmina Lata 11:01, 4 August 2011 (EST)

Lab 3. --Tahmina Lata 11:10, 11 August 2011 (EST)

Lab 4. --Tahmina Lata 11:26, 18 August 2011 (EST)

Lab 5. --Tahmina Lata 11:26, 25 August 2011 (EST)

Lab 6. --Tahmina Lata 11:32, 1 September 2011 (EST)

Lab 7. --Tahmina Lata 11:03, 15 September 2011 (EST)

Lab 8. --Tahmina Lata 11:51, 22 September 2011 (EST)

Lab 9. --Tahmina Lata 11:44, 29 September 2011 (EST)

Lab 10. --Tahmina Lata 12:49, 6 October 2011 (EST)

Lab 11. --Tahmina Lata 12:08, 13 October 2011 (EST)

Lab 12. --Tahmina Lata 12:08, 20 October 2011 (EST)

Lab Questions

Lab 1 Questions

1. Identify the origin of In Vitro Fertilization and the 2010 nobel prize winner associated with this technique.

In the year 1950 Robert G. Edwards started working on In Vitro Fertilization and on 25 July, 1978, his project succeeded in producing the world's first "test tube baby." The Nobel Prize in Physiology or Medicine 2010 was consequently awarded to Robert G. Edwards for the development of in vitro fertilization.[1]

2. Identify a recent paper on fertilisation and describe its key findings.

A study of fertility after age 45 was attempted with the aim of reversing the age-related decline in oocyte quality through micro-manipulation of the nucleus and cytoplasm. However it has yielded disappointing results coupled with fears of ethical concerns. [2]

3. Identify 2 congenital anomalies.

Atrial septal defect (ASD)is a form of congenital heart defect that results in the mixing of arterial and venous blood.

Spina bifida is a congenital disorder that results from the incomplete closing of the embryonic neural tube. --Tahmina Lata 15:43, 9 August 2011 (EST)

Lab 2 Questions

1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation.

Zona pellucida glycoprotein 3(ZP3) acts as the sperm receptor. ZP3 surrounds the oocyte, and the sperm binds to it as a way to enter the cell. Once a sperm is successful in entering the oocyte, the membrance is depolarised which acts as a primary block to polyspermy. Following this process the IP3 pathway is activated and an increase in intracellular calcium results in alteration of ZP3 thus posing a secondary block to polyspermy.

2. Identify a review and a research article related to your group topic. (Paste on both group discussion page with signature and on your own page)

Review Article "Cystic fibrosis: pathogenesis and future treatment strategies"-This review summarizes our current understanding of the pathophysiology and treatment of cystic fibrosis lung disease [3]

Research Article "Nasal endoscopic evaluation of children and adolescents with cystic fibrosis"-The questionnaire, clinical examination and especially nasal endoscopy performed as part of this research lead to a detailed assessment of the nasal characteristics of children and adolescents with cystic fibrosis. [4]

--Tahmina Lata 15:20, 9 August 2011 (EST)

Lab 3 Questions

1 Upload the same image that was shown in class.

Differentially expressed RefSeq genes in human trisomy 21.jpg

Differentially expressed RefSeq genes in human trisomy 21 --Tahmina Lata 12:55, 18 August 2011 (EST)

2 What is the maternal dietary requirement for late neural development?

Folic acid, which is the synthetic form of the vitamin folate, is responsible for the synthesis of DNA precursors. A deficiency of the vitamin intake results in defective cellular growth and the effects are most obvious on those tissues which grow most rapidly which is why it results in neural tube defect in fetal development.

Women who had 4 mg of folic acid in their systems due to supplementing 3 months before childbirth significantly reduced the risk of NTD within the fetus. This is now advocated by the UK department of health, recommending 400 µg per day of folic acid.[5]

3 Upload a picture relating to you group project. Add to both the Group discussion and your online assessment page. Image must be renamed appropriately, citation on "Summary" window with link to original paper and copyright information. As outlined in the Practical class tutorial.

Mice mutants exhibit cleft palate and umbilical hernia[6]

Mice mutants exhibit cleft palate and umbilical hernia --Tahmina Lata 12:55, 18 August 2011 (EST)

Lab 4 Questions

1 The allantois, identified in the placental cord, is continuous with what anatomical structure?

The allantois is continuous with the posterior part of the alimentary canal(hind gut)and endoderm of the embryo.

2 Identify the 3 vascular shunts, and their location, in the embryonic circulation.

  • Ductus venosus connects the umbilical vein and inferior vena cava. Together with the other two shunts it plays an important role in

preferentially shunting oxygenated blood to the fetal brain

  • Ductus arteriosus connects the pulmonary artery and the descending aorta helping blood from the right ventricle bypass the fluid filled lungs

of the fetus.

  • Foramen ovale connects the right and left artium. It closes at birth forming the foramen ovalis.

3 Identify the Group project sub-section that you will be researching. (Add to project page and your individual assessment page)

  • History
  • Developmental Process

--Tahmina Lata 23:30, 20 August 2011 (EST)

Lab 5 Questions

1 Which side (L/R) is most common for diaphragmatic hernia and why?

Diaphragmatic hernia is most common in the left side due to uneven closure of the diaphragm during embryonic development. The risk of herniation is much higher on the left side as it tends to close after the right side.

--Tahmina Lata 22:01, 28 August 2011 (EST)

Lab 6 Questions

1 What week of development do the palatal shelves fuse?

The palatal shelves fuse in Week 9 when the secondary palate fusion occurs

2 What early animal model helped elucidate the neural crest origin and migration of neural crest cells?

The quail-chick chimeras model used in the 1980s was the earliest animal model that facilitated understanding of the neural crest origin and migration of these cells.

3 What abnormality results from neural crest not migrating into the cardiac outflow tract?

The abnormality that results is called 'Tetralogy of Fallot'

--Tahmina Lata 23:14, 14 September 2011 (EST)

Lab 7 Questions

1 Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy?

(a)Adult skeletal muscle is regenerated by stem cells called satellite cells, thus they are necessary for muscle hypertrophy.

(b)Satellite cells are generally not directly involved in muscle hypertrophy. The cells proliferate and differentiate into myoblasts when activated by a muscle damage. These then fuse with mature myofibres to generate new tissue. [7]

2 Why does chronic low frequency stimulation cause a fast to slow fibre type shift?

Cellular destruction and regeneration occurs as a result of chronic low frequency stimulation (CLFS). Long-term chronic stimulation increases aerobic capacity, decreasing relaxation time hence making the muscle more resistant to fatigue. The shift from fast to slow fibre type is the body's adaptive response to prevent damage of the muscle fibres.

--Tahmina Lata 23:14, 14 September 2011 (EST)

Peer Assessment: Trisomy 21

  • Great balance of text, pictures and tables.
  • The links under introduction is distracting, might look better under the ‘links’ subsection.
  • The introduction sounds incomplete and the small paragraphs are non coherent.
  • "Some Recent Findings" fits better towards the end of the page; once the topic has been discussed in detail.
  • Under Some Recent Findings all the points are direct quotes from research papers. It would be more informative if clear and precise summaries were included instead.
  • The section "associated abnormalities" have not been discussed adequately. A brief discussion on why they are related would be much more constructive to the reader.
  • The figure "Human Idiogram - Chromosome 21" has no copyright information and the resolution is too small
  • The sections "limb defects" and "heart defects" should not claim their own sections. Again instead of bullet points with links attached to them a brief discussion would look better.
  • The picture of "John Langdon Down" has no copyright information attached. Also the picture might fir better next to a section where the discovery has been discussed.
  • A timeline or history subsection should be added as this gives the reader a perspective of how the condition has been discovered and the developments made over time.
  • The section "prevalence" should look at a broader perspective rather than just touching on two regions.
  • Although the table in "screening" looks neat it needs more discussion at the end, eg. What time period the data is from etc
  • "Screening by country" is too short and does not have a broad view.
  • "Detection using Tandem Single Nucleotide Polymorphisms" uses an "easy to follow" flowchart with adequate information without being too verbose, well done!
  • The "Australian Support" section is a useful one and it is a nice touch to add!

--Tahmina Lata 22:30, 21 September 2011 (EST)

Lab 8 Questions

Peer Assessment Group 10 Duchenne Muscular Dystrophy

  • The first paragraph of the introduction has no reference.
  • The paragraphs in history are quite long, often with grammar mistakes, incorrect punctuations and many of the ideas within a sentence separated by a -. For example the second last paragraph within history.
  • The history is too verbose, a timeline with bullet points will look better
  • Aetiology is quite concise and informative however grammatical errors are a distraction. For example There a multiple forms of dystrophin. It might be a good idea to proofread the page.
  • Well done with the student drawn image
  • 'Pathogenesis' is again well written however an image might have given it a balance between the text in the section and the pictures or tables
  • The future therapies table is a little confusing, you might want to add more columns and define the therapy, and then discuss what the challenges and findings are and at the end column finish off with what the implication might be if the research is to be completed successfully. At the moment you have discussed all that in one big paragraph and the way the descriptions start, it sounds like there is no background to the description, just a little abrupt.
  • The glossary is very short and you should include terms like de novo mutation.
  • The existing definitions are unclear and incomplete

Peer Assessment Group 9 Williams-Beuren Syndrome

  • The introduction could use a simple image of the chromosome 7q11.23 just to make the introduction look a bit more interesting
  • History is too detailed and in a few instances a repetition of the timeline
  • An image in the timeline section will make it a bit more interesting
  • The section 'Genetic factors and Etiology' is a great balance of image, table and text. Interesting information presented simply and clearly
  • Interesting image of the deleted gene location
  • Under Epidemiology you could also talk about prevalence of the condition in certain regions of the world etc. It looks like a one sentence section.
  • The management section looks like it is part of epidemiology. You might want to reformat this to make it look like it is a topic by itself.
  • Too many one sentence paragraphs under 'Treatment'. It might be a good idea to organise the thoughts and bunch them into small paragraphs. Half a line in a paragraph doesn't look great, surely these single lines can relate to another paragraph.
  • The heading 'other problems' don't sound descriptive enough, you might want to call it, 'Associated Abnormalities'.
  • Please add 'Genitourinary Conditions' in addition to a heap of other unexplained terms in the glossary
  • I like the addition of Figure 6. It is an interesting observation.
  • The addition of support groups in Australia and other places is a useful section.
  • Overall the page has been well researched, just find a balance between texts, images and tables and it will be an informative page to refer back to.

--Tahmina Lata 21:16, 25 September 2011 (EST)

Peer Assessment Group 8-Friedreich's Ataxia

  • I am sure you will fix the big gap at the beginning of the page where the contents are supposed to be
  • While the introducton is good with relevant information, the paragraph is too long.Maybe consider breaking it into two paragraphs.
  • The history section is repititive of the actual timeline. All the information under history could be summarized to incorporate in the timeline.
  • The timeline needs further information of what has happened since 1996
  • I like how you have the different sections within 'Epidemiology' highlighted. Only improvement you could make is maybe expand on 'Distribution,' 'Populations,' and 'Gender'.
  • 'Aetiology' has a good balance of interesting information, referencing and pictures.
  • The image 'The frataxin gene on chromosome 9' has very poor resolution and missing the copyright information. The description could be a bit more detailed too
  • The image 'Cross Section of the Spinal Cord' is missing a description.
  • There are a number of student drawn images which is relevant to the section and makes the page look quite original
  • The table under 'Diagnosis' is well done and informative
  • The 'Current Research Section' will look better as paragraphs rather than bullet points.

--Tahmina Lata 22:21, 25 September 2011 (EST)

Peer Assessment Group 7-Angelman Syndrome

  • An image in 'Introduction' or 'History', will make the beginning of the page more lucrative
  • The 'History' is too verbose, you can make better use of the time line by expanding on it rather than keeping a large amount of text.
  • The timeline would look better as bullet points and the years bolded, just a lot easier to follow
  • 'Aetiology' has a large gap. The image needs to be resized to make the section look complete
  • 'Epidemiology' needs a bit more illaboration, maybe you could touch on why there is a difference in the disease occurrence in different regions. The image also has insufficient description of what it is showing.
  • Pathogenesis also has numerous gaps, there is a lot of information which is great however hard to follow. Needs rationalization in the formatting.
  • There are some formatting issues in 'Signs and Symptoms', it starts in the middle of the page, it looks like it is part of pathophysiology.
  • The table under signs and symptoms don't have defined borders, can you consider a more defined structure of the table?
  • The flowchart in 'Diagnosis', is a little too large, makes the page look out of balance
  • Are you going to discuss the Genetic Counselling bit a little more? I am not sure what the table is trying to convey
  • There are a lot of references and the glossary also looks comprehensive

--Tahmina Lata 19:00, 28 September 2011 (EST)

Peer Assessment Group 6-Tetralogy of Fallot

  • An image in 'Introduction' will make the beginning of the page more lucrative
  • History might work better as a timeline, with bullet points and bold the dates so it is easier to follow.
  • Surgical history and Contemporary History has a lot of information, some of it overlaps.The whole section could be replaced by a 'easy to follow' timeline. Good pictures in history.
  • Are you going to expand on 'Epidemiology',? Maybe talk more about the actual pattern of occurrence rather than just a couple of observations from epidemiological studies?
  • Are you also adding a description for Aortic Insufficency Murmur? The other three heart murmur types have an explanation except for this one.
  • There are too many gaps in between the lines, makes the page look a bit sparse.
  • Genetics looks quite full on. You may want to add more distinct subheadings to make it easier to follow and keep the reader's attention
  • 'Abnormalities' looks great however you might want to change the italics to just bolded headings, makes the page look more consistent. Also make the numbers bold if you are going to have the text following the number bold.
  • Though in number 4 under 'abnormalities' can you give a quick definition on what hypertrophy actually is?
  • Even though the table is coming along make sure you take the reference off from the bottom of the table and add pictures. It looks like a work in progress. Also the referencing style is different to the rest of the page
  • The student drawn pictures under treatment is nice.
  • The table is also quite succinct
  • 'Future directions' doesn't sound great as a heading. Use something more appropriate to the context

--Tahmina Lata 19:22, 28 September 2011 (EST)

Peer Assessment Group 5-Fragile X Syndrome

  • The introduction contains a little bit of heavy info in it. You might want to introduce the complex concepts e.g.methylation of the CGG triplet so the reader can ease into the page.
  • The absence of references in the introduction makes it feel unreliable.
  • The History seems to be succinct, good work.
  • Nice diagram in 'Epidemiology', however it is missing a description and copyright information
  • Avoid the italics as it makes the page look inconsistent as you dont have italics very often throughout
  • 'Development of Disease' is divided well into distinct sub headings, easy to follow
  • 'Signs and Symptoms' is heavy with too much information, can you summarize some of it to condense the whole section. Also maybe consider finding some images to give it a better balance.
  • 'Diagnosis' requires a little more explanation of what is involved in the different types of methods.
  • The table in 'Treatment' needs division of the second column maybe into treatment option and a separate description just to make it look less heavy
  • 'Recent Research' is structured nicely, makes it a lot easier to read
  • The definitions in 'Glossary' are inadequate
  • Avoid italics in the glossary
  • The reference list needs some major reformatting

--Tahmina Lata 19:45, 28 September 2011 (EST)

Peer Assessment Group 4-Huntington's Disease

  • The introduction is precise and not too heavy.
  • The history has some interesting light information.
  • The timeline would look better with bullet points and bold dates
  • The table in 'Epidimiology' should be moved to one side as it looks a bit weird in the middle. The referencing looks good though.
  • Some of the terms e.g. HTT and HD halotypes in 'Epidemiology' need a brief definition within the text.
  • 'Molecular Mechanisms & Pathogenesis' has interesting inclusions, the colored bold words are nice.
  • You need to fix the file under 'Role in Transcription Inhibition'
  • Change the heading colour from red to something else in the table under 'Differential Diagnosis'. Bold would look better too.
  • The 'Therapies', 'Current/Future Research', 'Clinical Manifestation' sections are good and succinct
  • The glossary is adequate

--Tahmina Lata 20:41, 28 September 2011 (EST)

Peer Assessment Group 3-Klinefelter's Syndrome

  • Your introduction is interesting and a good summary of the page
  • The history is good however could use a picture
  • The images under 'Epidemiology' have quite poor resolution, can hardly read them
  • The rest of the page looks great and I have no more to add.
  • It is easy to read, well balanced text and pictures and informative

--Tahmina Lata 20:55, 28 September 2011 (EST)

Peer Assessment Group 2-DiGeorge Syndrome

  • The introduction and history look good with great use of images which makes for an interesting start.
  • There could be at least one other picture in 'Epidemiology' and 'Etiology', otherwise it just looks like a big block of text
  • The 'Diagnostic Tests' look good-the image for BACS still need to be uploaded
  • The student drawn images are colorful however doesn't have copyright information-just states who drew them
  • Some sentences seem incomplete or doesn't seem to convey a message e.g. "Once diagnosed, there is no single therapy plan. Opposite, each patient needs to be considered individually and consult various specialists".
  • 'Current and Future Research' has a lot of information however is it possible to condense it and give a basic summary instead. I understand that you have tried to do your best but it is just a lot of information. You might also wnat to consider using sub headings.
  • The references need a bit of attention-you have a lot of links there which need to be changed to proper references

--Tahmina Lata 21:14, 28 September 2011 (EST)

Peer Assessment Group 1-Turner Syndrome

  • The image in the introduction is a bit out of place, it might look better if you do a bit of reformatting
  • The second image in the page leaves a massive gap in the page making it look incomplete
  • The heading "Clinical Manifestations" will look better in the next line instead of starting in the middle of the page, it will make it more distinct as a major heading
  • The list in this section is also quite long, might be a good idea to construct a table-so the idea is visible at a glance with the headings appearing side by side in the columns of a table.
  • The table in "Diagnosis" looks great but takes up a lot of space on the page, maybe reduce the size of the images?
  • The sentence Therefore it is suggested in order to rectify this issue that more education should be given to physicians on the syndrome under the section 'Future Research' is a little off grammatically, maybe consider proofreading this section.
  • Another example is These article evaluate- it should read This article evaluates?
  • Also the future research section does not really talk about future research as such, it is more about implementing a multidisciplinary approach to treatment which should have a more appropriate heading like 'Improved Approaches to treatment plans' or something.

--Tahmina Lata 21:36, 28 September 2011 (EST)

Lab 9 Questions

No questions posted for this lab

Lab 10 Questions

1. Besides fetal alcohol syndrome, identify another envirnomental teratogen that can lead to hearing loss.

A viral infection by the rubella virus in the mother the second trimester can cause the baby to be born with congenital deafness. Rubella is transmitted via airborne droplet emission from the upper respiratory tract of infected people shedding virions that is transmission can be from the breath of people sick from Rubella.

2. Identify 3 factors that contribute to poor neonatal drainage of the middle ear.

The Eustachian tube links the pharynx to the middle ear pharynx to the middle ear and is involved in clear ngmucus from the inner ear into the nasopharynx. The Eustachian tube in the neonate is not yet fully developed, thus it is almost horizontal, opened by one muscle instead of two in the adult, the tensor palatini muscle and has a floppy opening which results in reduced middle ear drainage.

3. Identify 1 genetic abnormality that affects hearing development and link to the OMIM record.

Axenfeld-Rieger syndrome, type 3 is associated with varying degrees of deafness. It is located on the chromosome 6p25.3. OMIM - Axenfeld-Rieger syndrome, type 3

Lab 11 Questions

1. Name the components that give rise to the interatrial septum and the passages that connect the right and left atria.

Two muscular septums called the primum and the the secundum fuse together to give rise to the interatrial septum. Foramen ovale is the passage that allows right-to-left shunting of blood throughout gestation. Shunting allows oxygenated blood from the umbilicus to bypass the developing pulmonary system and enter the systemic system.

2. Identify the cardiac defects that arise through abnormal development of the outflow tract.

  • Ventricular Septal Defect-results from a lack of closure of the IV foramen,
  • Atrial Septal Defect-derived from multiple sources making various places susceptible to defects,
  • Aortic Stenosis-stenosis is caused by a muscular obstruction below the aortic valve,
  • Double Outlet Right Ventricle-this occurs when the aorta obtains 50% of its blood from the right ventricle,
  • Tricuspid Atresia-Complete lack of formation of the tricuspid valve resulting in an hypoplastic right ventricle,
  • Truncus arteriosus - where only one artery arise from the heart to form the pulmonary arteries and the aorta,
  • Conus arteriosus - where only one artery arise from the heart to form the pulmonary arteries and the aorta,
  • Tetralogy of Fallot-cardiac abnormality resulting from abnormal neural crest migration,
  • Transposition of the Great Vessels
  • Hypoplastic Left Heart and
  • Left or right Ventricular Outflow Tract Obstruction

--Tahmina Lata 7:30, 18 October 2011 (EST)

Lab 12 Questions

1.Give examples of 3 systems that continue to develop postnatally.

The following three systems continue to develop postnatally:

Respiratory, Musculoskeletal and Nervous systems.

2.Identify the abnormalities detected by the Guthrie Test and link to one abnormality listed in OMIM.

  • Phenylketonuria (PKU)
  • Biotinidase Deficiency
  • Congenital Adrenal Hyperplasia (CAH)
  • Congenital Hypothyroidism (CH)
  • Congenital Toxoplasmosis
  • Cystic Fibrosis (CF) - OMIM
  • Galactosemia (GAL)
  • Homocystinuria
  • Maple Syrup Urine Disease (MSUD)
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
  • Toxoplasma gondii IgM antibodies

--Tahmina Lata 12:51, 25 October 2011 (EST)


  1. Our founder editor, Robert G. Edwards, wins the Nobel Prize for Medicine.Reprod Biomed Online. 2010 Dec;21(7):829. PubMed PMID: 21112539
  2. Forman EJ, Treff NR, Scott RT Jr. Fertility after age 45: From natural conception to Assisted Reproductive Technology and beyond. Maturitas. 2011 Aug 1.[Epub ahead of print] PubMed PMID: 21813248
  3. Ratjen FA. Cystic fibrosis: pathogenesis and future treatment strategies.Respir Care. 2009 May;54(5):595-605. Review. PubMed PMID: 19393104
  4. Franco LP, Camargos PA, Becker HM, Guimarães RE. Nasal endoscopic evaluation of children and adolescents with cystic fibrosis. Braz J Otorhinolaryngol. 2009 Dec;75(6):806-13. PubMed PMID: 20209279
  5. Hibbard BM (August 1964). "The role of folic acid in pregnancy". An International Journal of Obstetrics and Gynaecology 71 (4): 529–42
  6. <pubmed>PMC2841638</pubmed>
  7. Darabi, R. et al. Functional skeletal muscle regeneration from differentiating embryonic stem cells. Nat. Med. Advance online publication, doi: doi: 10.1038/nm1705 (20 January 2008)