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Lab 4 Online Assessment

  1. The allantois, identified in the placental cord, is continuous with what anatomical structure?
  2. Identify the 3 vascular shunts, and their location, in the embryonic circulation.
  3. Identify the Group project sub-section that you will be researching. (Add to project page and your individual assessment page)

--Mark Hill 09:38, 3 August 2011 (EST) All 3 questions from Lab 1 need to be completed before Lab 2.

Class Attendance

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Laboratory Assignments

Lab Assessment I

1. Identify the origin of In Vitro Fertilisation and the 2010 Nobel Prize winner associated with this technique.

The first pregnancy achieved through in vitro human fertilisation of a human oocyte was reported in the Lancet from the Monash university in 1973, although it only lasted a few days. The first successful IVF was carried out in the UK in 1978 by Robert G. Edwards, later awarded the Nobel Prize in Medicine “for the development of in vitro fertilisation” in 2010.

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

Lisa Moran et al. (2011) assessed the effect of a high-protein weight-loss program with exercise pre- assisted reproductive technology (ART) treatment on pregnancy and live birth outcomes in overweight and obese women. The high-protein weight-loss diet resulted in a significantly reduced weight compared with no treatment. A reduction in waist circumference was associated with increased chances of pregnancy. The overall pregnancy rate was 53% for the intervention and control group combined (compared with the expected spontaneous pregnancy rates of <10% per month in this population). These results established the efficacy of lifestyle treatment for overweight women in ART.[1]

3. Identify 2 congenital anomalies.

Trisomy 21 (Down Syndrome) & Trisomy 18 (Edward Syndrome)

Lab Assessment II

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

The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three to four glycoproteins which have various functions in fertilisation. The protein encoded by zona pellucida glycoprotein 3 (ZP3) is the primary spermatozoa receptor during fertilisation. The binding of ZP3 to sperm activates a range of intracellular signal cascades, which culminate in fusion of the plasma membrane and underlying outer acrosomal membrane (i.e. the acrosome reaction). Fusion of the sperm with the oocyte triggers a release of calcium ions, which results in depolarisation of the oocyte plasma membrane, by which fusion of another sperm is prevented. The rapid depolarisation provides an early block to polyspermy and is mediated by the cortical reaction.

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: Klinefelter Syndrome [1]

Research Article: Klinefelter's syndrome (XXY) as a genetic model for psychotic disorders [2]

Class exercise: Upload Sample Image

468px-Differentially expressed RefSeq genes in human trisomy 21

Lab Assessment III

1.What is the maternal dietary requirement for late neural development?

Iodine is essential for the synthesis of thyroid hormones, thyroxine (T4) and triiodothyronine (T3). These hormones act by regulating the metabolic pattern of most cells and play an important role in the process of early growth and development of the brain. Iodine deficiency during pregnancy leading to hyperthyroidism in the foetus results in cretinism, characterised by severe mental retardation. Therefore supplements of iodine can prevent these abnormalities if taken before conception and during the first two months of pregnancy.[2]

2. Upload a picture relating to you group project.

Magnetic Resonance of Head MRI from patient with Down Syndrome and Klinefelter's Syndrome

Lab Assessment IV

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

The allantois is a sac-like structure which appears on approximately day 16 from the caudal wall of the umbilical vesicle that extends into the connecting stalk. During folding, the terminal part of the hind gut dilates to form the cloaca, which is primordial for the urinary bladder and rectum. The allantois is carried backwards in folding and is continuous with the cloaca region of the hind gut.

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

- Ductus arteriosis: connects the left pulmonary artery and the descending aorta
- Ductus venosus: connects the portal and umbilical veins to the inferior vena cava
- Foramen ovale: connects the right and left atrium

3. Identify the Group project sub-section that you will be researching.

History (with an included timeline), Aetiology and a case study

Lab Assessment V

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

Congenital diaphragmatic hernia occurs on the left side in 85% to 90% of cases. The predominance of left-sided may be related to the earlier closure of the right pleuroperitoneal opening.

Lab Assessment VI

1. What week of development do the palatal shelves fuse?

The primary palates in the human embryo fuse between stage 17 and 18, from an epithelial seam to the mesenchymal bridge. The secondary palate, fuse in week 9 in the human embryo. The fusion of the secondary palate requires the early palatal shelves growth, elevation and fusion during the early embryonic period. The fusion incorporates both secondary palates and the primary palate.

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

The chicken/quail chimera’s model undertaken by LeDouarin in the 1980s was a key experiment in the understanding of the pattern of neural crest migration. It was a transplantation and histological processing to identify the migration path and final destination of transplanted neural crest cells.

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

Tetralogy of Fallot, is the cardiac abnormality which may occur from abnormal neural crest migration.

Lab Assessment VII

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

a) Satellite cells are not necessary for muscle hypertrophy.
b) However, they are required for both the de novo formation of new fibres and fibre regeneration. Thereby, playing a minor role in the overall hypertrophic response. [3]

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

Slow twitch (oxidative) skeletal muscle fibres are known to contain a large number of myonuclei and satellite cells compared with the fast- twitch (glycolytic) fibres. Studies have shown that fast-to- slow fibre type transition are linked to increasing cell activation, content and fusion to transforming fibres, especially within the IIB fibre population [4]. Chronic low frequency stimulation (CLFS), a highly standardised model of muscle training, copies the electrical discharge pattern of slow motor neurons that innervate slow-twitch muscles. CLFS induces the transition from type IIB to types IID and IIA mainly in regenerating muscle. Additionally, it activates all motor units of the stimulated muscle, therefore challenging the adaptive potential of the target muscle. In a decent satellite cell population, CLFS can induce satellite cell content and activity, and large fast-to-slow phenotypic changes [5].

Critique of Trisomy 21

General Structure: The sub-heading structure is a little out of order, for example ‘Recent Findings’ should be placed at a later stage, whilst a ‘history’ subheading and/or ‘Epidemiology’ would have been more competent at the top. Also, of the sub-headings aren’t worded well, for example ‘some recent findings’, would read better as just ‘Recent findings’. Content is poor in areas such as ‘Trisomy 21 Karotypes’, more detail could have been included in explaining each one. ‘Heart defects’ and ‘limb defects’ also lacked a substantial amount of detail.Most of your images do not have a copyright clearance statement. No student drawn image should have at least 1 or 2.

Introduction: The introduction is very wordy and I don’t feel it gives a good opening to the disease. It reads poorly in structure. The introduction is the first thing that is read, so this needs to be improved. Also, the history of the disease is not explained well, if there is not going to be subheading for it, the origin of the disease should be outlined in the introduction. The image included is good, however the copyright clearance statement is not clearly supplied. The external links prove to be very helpful, however I think they are ‘overwhelming’ to have at the start, a better position for these links may possibly be the bottom of the page.

Some recent findings: The name of this sub-heading is not proficient. The quotes from the readings clash with points 1 and 5 of the Group Assessment Criteria, because you have not gone to the effort of explaining it in your own words, remember that the reader’s are your peers.

Trisomy 21 Karotypes: Good use of images, however the detail is lacking here. How does karotyping actually work? Maybe the descriptions in each image can be incorporated under the sub-heading.

Heart Defects and Limb defects: Only 1 image. No images for heart defects, a visual aid is necessary for this section. Also, where are all the references?

Prevalence: Nothing from Australia? I’m also not quite sure why the picture of John Langdon Down is under this sub-heading, should be under “history’ or introduction.

Down ’s syndrome screening: Nice use of the table. I think this is the best explained sub-heading, with plenty of descriptions and detail. The image is uploaded in the correct manner. Could have put the ‘terms’ with the glossary below.

Meiosis I and II + Aneuploidy: Relevance? Information should probably have been included in ‘Recent findings’.

Trisomy growth charts: You should use your own words to explain the charts.

Lab Assessment VIII

Group 1 Peer Review

  • Good sub-heading structure and overall text layout.
  • The introduction gives a good summary of the abnormality, however a few sentences could probably be worded better.
  • A history sub-heading with a timeline would really add to the project.
  • Your pictures are really good and they really compliment your page, however I noticed one didn’t have the correct copyright clearance, e.g. the graph ‘Common congenital malformations seen in Turner Syndrome’. Also I think the positioning of all your images would look better on the right hand side and in alignment with the text. The student drawn image is really good!
  • In aetiology, I think more references are needed to show that you have done enough research in this area. I like the emphasis on important words, however I think it should be something that flows in the entire page, not only in this section.
  • Nice use of tables in the Diagnosis section, however I think if you reduced the size of your images, especially in ‘Postnatal diagnosis’ you would have a neater looking table, not so much white empty space.
  • The research area was very informative and very well summarised.
  • You have obviously researched this abnormality to a large extent judging by the amount of references you have added, however make sure you don’t double up on references.

Group 2 Peer Review

  • Your overall structure and layout of the page is really good! It’s really neat and all the images and text seem to be in proportion.
  • All your pictures, graphs and tables show that you have a good understanding of this abnormality.
  • The introduction gives a really good summary of the disease, however I think you should introduce the disease first and then go onto

to explain ‘congenital disorders’.

  • Epidemiology could probably be broken down into sections, to make it an easier read and more interesting.
  • The aetiology section needs an image to break up a large amount of text also to make it more interesting and informative.
  • Good use of subheadings in the pathogenesis, very relevant! Student drawn images are good, could they be a little neater?
  • Diagnostics test is really nice and clear, however consistency with the colour of the tables would be good.
  • Clinical manifestations section has really good information, I think it could be structured better though, for example; only have the table describing each sign and symptom and then have another sub-heading related abnormalities where you could include ‘Teratology of Fallot as an example...’ (Just an idea).
  • Current future research is obviously researched thoroughly, breaking it down into relevant subheadings would really improve it though.
  • Make sure you fix up your repeated references. But good work overall!

Group 4 Peer Review

  • Great sub-heading structure, and the overall flow of the page is neat. Although, it would appear more orderly if all images were on

the right hand side of the page, in alignment with the text (it looks messy otherwise).

  • The introduction is very clear and to the point, I think a picture which portrays the abnormality would look good here.
  • History is done really well, I loved the quote and the picture of George Huntington. The only thing in this section would be to make

the dates bold or possibly even use a table.

  • Nice use of tables in epidemiology, they make the information easy to read and easily accessible.
  • Well described genetics component and nice incorporation of the student drawn image. I’m not sure if there’s a need to break down

Huntington (misspelt as ‘Huntingtin’ in the heading) gene into more headings.

  • Molecular mechanisms and pathogenesis is done well. I actually think the image is a good size, as its side-by-side to the text and clearly explains what most of the text is about.
  • I think a table would be helpful in clinical manifestations. Also, the image would look better larger and on the right hand side of the page.
  • Treatment section was a little overwhelming. Too much detail in the table, possibly?
  • Good glossary and a vast range of references, good work thus far!

Group 5 Peer Review

• Generally good sub-heading structure. The overall flow is consistent (nice pink tables!), however I think it could be tidied up more, for example; images placed on the right hand side of the page.

• Double up’s in references need to be removed.

• Introduction is brief and concise, good!

• Epidemiology could be improved by the addition of a table, and maybe the ‘Screening/Population testing’ section could be a sub-heading on its own.

• The first paragraph in the genetic contribution of Aetiology I feel could be worded better, but nice images and really good description of the cause of the abnormality.

• Development of the disease is a really good explanatory section, really informative! The addition of images here, would really improve it (if able to find them)

• More images needed in the signs and symptoms section. Also maybe the addition of a table to sum up the different signs and symptoms with the different age groups would help. This section seems incomplete to me, where are all your references?

• Diagnosis needs some more detail and possibly an image (for completion)

• The ‘signs and symptoms’ in the Treatment section aren’t really consistent/parallel with the ‘signs and symptoms’ section itself. This could be improved by adding a similar table in the signs and section sub-heading outlining the same ‘signs and symptoms’ (just an idea)

• Glossary needs a lot more definitions.

Group 6 Peer Review

• Nice and simple sub-heading structure. I like the consistency of two images throughout the page. However I feel like you have lots of text with fewer images.

• Introduction is clear and to the point, however where are you references? And an image in this section is always good to give a representation of the abnormality from the start.

• History is really good! Clearly researched very well and good images! Interesting to read. However, the use of a timeline or ‘bolding’ all the dates would make it an easier read.

• Epidemiology is good, however I think you could elaborate more and possibly add a table/graph.

• I personally think that your signs and symptoms would look better displayed in a table. Definitely need more images here, possibly one for each sign/symptom.

• Why are signs and symptoms before the aetiology and pathogenesis of the disease? For me, it’s more logical to explain the cause and how the disease comes about before the signs and symptoms.

• Pathophysiology and abnormalities is a really good descriptive section. Well explained! And good use of images. But where are all the references?

• Diagnostics test has interesting information. Inconsistent referencing system to the entire page, also desperately in need of images to break up all that text.

• Future directions is well summarised, with relevant headings.

• Not really sure what’s going on with your referencing, but you need to have a consistent system throughout the entire page with no doubling up of articles.

Group 7 Peer Review

• Over-all, good sub-heading structure and nice flow to the page. However, I feel the top half of the page is very image lacking (especially the top 3 sub-headings).

• Very good range of references, however you need to avoid the doubling up of references.

• The introduction is short and sweet! Very interesting and a good summary of the disease.

• The history is written well and the timeline is a nice summary which complements the text. An image here would really add to the project, if you are able to find one.

• Epidemiology is a good start, with good headings. However more detail is needed and an addition of a table/graph would really improve this section.

• Aetiology is good, clear and to the point. Nice table! Are you able to elaborate more on the different phenotypes?

• Pathogenesis is well written, however I feel that the first paragraph has too much history. I really like the explanation of UBE3A ubiquitylation, very clear and complimented by the student drawn image! Pathogenesis could also be improved by breaking it up into relevant headings.

• Your images are really good and helpful, however I think that images look better on the right hand side of the page.

• Signs and symptoms have good content, but I’m not sure about the use of the table here. Also, there are two references in this table, don’t forget to use a consistent referencing system throughout the page.

• Diagnosis has good content, but could be made tidier by highlighting the headings of the different diagnosis, placing all images to the right and reducing the size of the flow chart.

• Related diseases needs some more work, if you really want to include this sub-heading.

• Treatment and management is an informative section, however there is only 1 reference?

• To be honest, I don’t really understand the need for the genetic counselling sub-heading. It’s very similar to the table used in aetiology.

• Really good glossary!

Group 8 Peer Review

• Good overall layout and effective sub-heading structure. Your images are really useful, however I feel there is a lot more text than there is images.

• Introduction and history are really good! It’s a good opening to the page, and very interesting abnormality. Obviously, well researched. Could the timeline be expanded?

• Epidemiology is also really good, however the addition of a table or graph could really compliment this information.

• Aetiology has good content, and I like how you’ve emphasised important terms by highlighting them. This would look better if it was consistent throughout the entire page.

• Pathogenesis is a good start, but I think it needs more detail. Really good diagram though!

• Neuropathology has been done really well! Really good content, and nice flow. Very applicable to the audience.

• I like the use of the table in the diagnostics section. (Nice consistency of the colour of tables).

• Current research could maybe be broken down into headings and then brief summaries of each paper under each heading.

• Nice range of external links! Could they be incorporated into their relevant subheadings?

Group 9

• The overall structure is good. Good sub-headings. Nice flow to the page, however you need a lot more images to balance out the blocks of text (especially in introduction, history, Genitourinary conditions, endocrine, other associated medical conditions and in the cognitive phenotypes).

• The history and timeline are interesting, the timeline would probably stand out more if you made it into a table though.

• Genetics factor’s was an easy to read section, nice picture and use of the table. However, to improve this section you could make the genes in the table bold or a larger font so they stand out.

• Diagnosis is good but I noticed that you only have one reference in this section, definitely need to add more.

• Epidemiology needs to be more detailed, and maybe you could make treatment and management their own subheadings.

• Phenotype of Williams Syndrome is really interesting, but a an obvious lack of references again in this section, you need to cite everything that you use.

• Cardiac conditions is good so far, however it seems a bit incomplete, for example; other problems.

• Specialised facilities and supportive association is a clever addition to the page. Very useful and intuitive.

• Current research and developments, shows that you have the information. But it would read better if you had small summaries of each article under the different categories, rather than quotes.

• Glossary will need to be expanded.

Group 10

• The sub-heading structure is good. However you need plenty more images to balance out the text: image ratio.

• Introduction is good and nice use of this image here!

• The history is a really interesting section, but you need to break it up a bit, possibly with images and an addition of a timeline to highlight major events.

• Epidemiology is good, but could definitely use an image/ graph/ table.

• Aetiology is easy to read and I really like the student drawn image.

• Pathogenesis is good, but needs a lot more detail and some images.

• A few of your sections feel incomplete, and need further research and more detail, for example; signs and symptoms and diagnosis.

• Glossary of terms needs more definitions.

Group 11

• The overall structure of the sub-headings is okay, it could be made more tidier with an easier flow. the sub-heading structure is a little messy, for example; Development aetiology. However, nice range of images.

• Some of your sub-headings could be worded better, for example; syndromes and anomalies associated with cleft. The page has gone a long way according to Dr. Marks comments however, I still feel the structure is out of sequence.

• The introduction is very brief and I don’t feel it gives a good summary/opening to this abnormality. Also, the addition of an image here to represent the disease would be really good. Also where are you references? This section needs some work.

• The history was good, could be worded better.

• The timeline is good, over a nice range of years and the use of the image is great.

• The content’s there but it just needs to be structured more appropriately.

Lab Assessment X

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

A rubella infection during the critical period of development of the internal ear, particularly week 7 to week 8 can lead to hearing loss.

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

At birth and in young children 3 factors which can lead to poor drainage of the middle ear are;

  • The neonatal auditory tube (or eustachian tube) shorter (8-9mm) compared to the adult auditory tube.
  • Runs almost horizontal and is narrow in size.
  • The auditory is normally closed and is opened by muscles, infants have only one muscle, the tensor palati muscle.

3.Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)

Papillorenal Syndrome is an autosomal disorder which can lead to high frequency hearing loss. Papillorenal Syndrome

Lab Assessment XI

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

The septum primum and septum secundum fuse together to form the inter-atrial septum. This flap of tissue is known as the valve of the foramen ovale. It opens and closes due to pressure gradients between the left and right atria.

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

  • Ventricular Septal Defect
  • Atrial Septal Defect
  • Aortic Stenosis
  • Double outlet right ventricle
  • Tricuspid Atresia

Lab Assessment XII

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

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


  1. Moran L., Tsagareli V., Norman R. & Noakes M. (2011) Diet and IVF pilot study: Short-term weight loss improves pregnancy rates in overweight⁄obese women undertaking IVF. Aust NZ J Obstet Gynaecol. 10: 1479-1484
  2. <pubmed>8427206</pubmed>
  3. <pubmed>21828094</pubmed>
  4. <pubmed>16439424</pubmed>
  5. <pubmed>16439424</pubmed>