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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)

Lab Attendance

--Z3289066 12:21, 28 July 2011 (EST)

--z3289066 12:53, 4 August 2011 (EST)

--z3289066 11:09, 11 August 2011 (EST)

--Elisabeth Karsten 11:28, 18 August 2011 (EST)

--Elisabeth Karsten 11:07, 25 August 2011 (EST)

--Elisabeth Karsten 11:11, 1 September 2011 (EST)

--Elisabeth Karsten 11:08, 15 September 2011 (EST)

--Elisabeth Karsten 11:01, 22 September 2011 (EST)

--Elisabeth Karsten 10:59, 29 September 2011 (EST)

--Elisabeth Karsten 12:27, 6 October 2011 (EST)

--Elisabeth Karsten 11:05, 13 October 2011 (EST)

--Elisabeth Karsten 11:06, 20 October 2011 (EST)


Lab One

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

The first incidence of in vitro fertilization was in 1978 by Edwards RG. et al. who then received the nobel prize for his work in 2010. Since then, work in in vitro fertilisation has extended into Assisted Reproductive Technologies (ART) which now incorporates 17 different techniques.

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

This paper refers to research concerning sperm chemotoxis and it's 'journey' to the oocyte and consequential fertilisation. It describes the selective process involved in fertilisation and the potential of the involvement of fluid shear in this selection.[1]

Identify 2 congenital anomalies.

  • Dandy–Walker syndrome - This is a congential brain malformation which is associated with the partial or complete absence of part of the brain, often involving the cerebellum.
  • Amniotic band syndrome - This involves the constriction of the limbs by the amniotic band potentially resulting in swelling of limbs, constriction or amputation.

Lab Two

Identify the zona pellucida protein that spermatozoa binds and how is this changed (altered) after fertilization.

The sperm binds to the receptor Zona Pellucida Protein 3 (ZP3) on the zona pellucida which is surrounding the oocyte. This is necessary for entry into the oocyte, and thus fertilisation. After fertilisation, the membrane is depolarised as a primary block to polyspermy. The IP3 pathway is activated, leading to an increase in intraceullar calcium and altering ZP3, so that it will no longer binds sperm to the membrane and acting as another block to polyspermy.

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)

Klinefelter Syndrome

Lab Three

What is the maternal dietary requirement for late neural development?

Folate is essential for late neural development. Its use has been associated with a decrease in neural tube defects. These defects include spina bifida which results from a lack of neural tube closure, or anencephaly which is the result of a lack of cranial neural tube closure.

Upload a picture relating to you group project.

Average IQ of people suffering from Klinefelter's Syndrome


Lab Four

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

The allantois is continuous with the hind gut (and endoderm) of the embryo.

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

  • Ductus venosus - this is situated between the umbilical view and inferior vena cava
  • Ductus arteriosus - this is situated between the pulmonary artery and the descending aorta
  • Foramen ovale - this is situated between the right and left artium

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

  • Introduction
  • Treatment/Management
  • Current Research

Lab Five

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

The left side is most common (90%) for diaphragmatic hernia's to occur. This is due to uneven diaphragm closure during embryonic development. The left side of the diaphragm tends to close after the right side, and so the risk of herniation here is much greater.

Lab Six

What week of development do the palatal shelves fuse?

The palatal shelves fuse during week 9, this is also known as fusion of the secondary palate.

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

Quail-chick chimeras were used in the 1980s to investigate neural crest migration, this utilised the differences in the nucleoli of chicks and quails.

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

This is known as a 'Tetralogy of Fallot', this can result in truncation of the outflow tract, or even its complete abscence.

Lab Seven

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

(a) It seems that satellite cells are not necessary for muscle hypertrophy. It was shown that satellite cell-depleted muscle could still undergo hypertrophy. After 2 weeks, it showed the same increase in muscle mass, in satellite cell positive muscle and satellite cell depleted muscle. [3]

(b) Satellite cells are necessary for new fiber formation and regeneration. In normal muscle, satellite cells definitely contribute to the process of hypertrophy, it is just not necessary. [4]

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

This type shift has been associated with an increase in myoneuclear content and satellite cell activiation. The use of chronic low frequency stimulation causes a change in the oxygen and metabolite need of the muscle fibres. Fast fibres tend to be glycolytic and thus do not have the capacity for oxygen metabolism. The result of this need is an alteration in structure and type (ie from fast to slow) where the formed slow fibres are able to withstand this chronic activation. The fast to slow fibre type shift is acheived by the "neighbour rule" ie move from Type IIB (fast) to IIA to IIX to I (slow).

Trisomy 21 Critique

  • I quite like the incorporated links that take you directly to the glossary, nice effect.
  • The list of links at the end of the introduction doesn’t flow very nicely. I like the idea, but maybe if you move them to the top of the page or even the bottom it would fit better.
  • The introduction could do with a bit more information and correspondence to the rest of the project.
  • The section “Some Recent Findings” would probably be better just titled “Recent Findings”, it sounds more professional. This section would also fit better at the end of the page after we know all the details of the disorder. It is too difficult to jump straight into these specifics. Also, it is a good idea, but instead of using direct quotes from the paper, a succinct summary of the research would be better. That way you could refer back to the entire page.
  • How does karyotyping work?
  • Can you elaborate on the section “associated abnormalities”? The setting is a little confusing, what disorders are you referring to? Why are they similar? Or are these a list of signs and symptoms? If so, why are they associated with the addition of an extra chromosome 21?
  • Instead of linking to the glossary, why not try to incorporate some of this information into the text?
  • Interesting information, but some of these topics can be incorporated together, ie “limb defects” and “heart defects”. Or else, add more information in each, it looks a little sparse.
  • There is no copyright information on the picture of ‘John Langdon Down’.
  • I like the idea of prevalence, this is important to give perspective to the disorder, but a more worldwide distribution would be good instead of just Ireland and USA.
  • The table in “screening” looks really good, but another column or something describing the screening techniques and details involved would be really good. The information in “novel screening strategies” sounds interesting but there needs to be more.
  • Interesting diagram for SNP screening.
  • “Screening by country” really should reference a few more countries than just spain.
  • A glossary situated directly on the page would be good, as opposed to some links to an outside glossary, and other terms defined in text ie in the “aneuploidy” section.
  • The topic and a lot of the work sounds very interesting and has the potential for a fantastic project, just a bit more content and better structured sub-headings needs to added and revised.

Lab Eight

Peer Review

Turner Syndrome

  • Just make sure you’re consistent with the capital letters for Turner syndrome, you’ve got ‘Turner syndrome’, ‘turner syndrome’ and ‘Turner Syndrome’ throughout the page
  • The page looks good, just a bit of final rearrangement of the images would be even better
  • You’ve got a lot of good information in "Clinical Manifestations" but perhaps the information would look better in a table as opposed a long list? Some pictures wouldn’t go astray either
  • I like the links down to the glossary, it makes it very efficient
  • The table in "Diagnosis" looks really good, but try to shrink the pictures in it down a bit so it’s not so huge
  • It would be good to expand some of the sections in “Treatment”, you’ve got a really good basis but you need more than one line in “Speech” etc
  • Your "Research" is very detailed with lots of good papers
  • Overall it is quite a good page, it just needs a little bit of reformatting

DiGeorge Syndrome

  • The page has a really nice setout, the introduction and history looks really good. It has a nice flow.
  • There could be at least one other picture in 'Epidemiology' and 'Etiology', otherwise it just looks like a big block of text
  • The second last paragraph in 'Epidemiology' would be better suited in 'Clinical Manifestations'
  • There's a bit of repetition between 'Etiology' and 'Pathology', it could be better to combine these
  • The 'Diagnostic Tests' look really good, fantastic table and images
  • I love the ultrasound picture
  • The table in 'Clinical Manifestations' is really great with lots of detail
  • I understand it's difficult to find, but more images in 'Clinical Manifestations' to give a visual representation would be fantastic
  • "Teratoogy of Fallot as an example...."
  • "Once diagnosed, there is no single therapy plan. Opposite, each patient needs to be considered individually and consult various specialists" This doesn't make muhc sense, that was from the 'Treatment' section.
  • You had a lot of good information in 'Current and Future Research', but I found myself getting lost in all the text. Maybe subheadings would help?
  • Don't forget to fix up the references, we don't want to see webpages as a reference even if it leads you to the paper
  • Overall your page looks very good, some minor formatting would be useful

Huntington's Disease

  • The intro and history look really good, I like the timeline and the quote box
  • What year was the information in the table in 'Epidemiology' sourced? Because from looking at the references, it seems to be within a 20yr period. Is this enitrely accurate to compare these?
  • What are HTT and HD halotypes (in 'Epidemiology')? You've only put 'halotypes' in the glossary, you also need to a give a brief definition within the text, not just glossary
  • Nice image in 'Genetics', lots of good easy to understand information there as well
  • You need to fix the file under 'Role in Transcription Inhibition'
  • The diagnosis section looks really good, make sure you get rid of that subheading for the video though
  • Interesting table in 'Treatment', however the section on 'Tetrabenazine' does not has complete sentences and seems a bit unnecessary. Honestly I don't really care how the drug works (ie receptors) I'm more interesting in it's implications regarding HD
  • The 'Therapies' section was good and succinct
  • Current/Future Research looks really good
  • Overall the page isn't bad, just need to confirm some details to improve it ie dates and definitions

Fragile X Syndrome

  • You need a bit more in your introduction. Introduce the basics before jumping straight into the methylation of specific genes etc. Try to describe what CGC triplet is, what methylation is, on what chromosome is FMR1 gene on? You need to spell some of this stuff out to begin with
  • The table in 'History' looks good, there is a nice outline of dates there
  • Nice diagram in 'Epidemiology', it's a really good illustration
  • 'Etiology' can you do a brief explanation of what "amplification" implies
  • There is a lot of good information in 'Signs and Symptoms', but it's lost in a block of text. It would be good if you broke it up with some images of clinical symptoms or something
  • How do the diagnostic tests work? Why are they used? What are the benefits and diadvantages of them? This section needs to be filled out a bit
  • Clearly a lot of work has gone into 'Treatment'
  • 'Recent Research' is structured nicely, makes it a lot easier to read
  • There's more than 8 words that require a definition
  • There's clearly a lot of good information in the project, but there is a lot of detail and it needs to be broken up a bit. Though, overall it is not a bad project

Tetralogy of Fallot

  • An image in the 'Introduction' to introduce the topic would not go astray
  • "...Infants turning blue when crying..." middle of sentence, no capital is required. What is tet spells?
  • History might work better as a timeline, otherwise at least bold the dates so I know whats going on
  • Surgical history has been covered through most of 'Contemporary History', there's not a whole lot of point having two subheadings here
  • The 'Epidemiology' is a bit sparce? Are there no other stats to add to this section?
  • There is a lot of good in information in 'Genetics', but I think you need something to break it up, you've got the images of the chromosomes (which are very good), but can you find other images? Maybe put some of the information into a table?
  • The 'Abnormalities' section looks really good. The information is clear, succinct, with good illustrative images
  • Though in number 4 under 'abnormalities' can you give a quick definition on what hypertrophy actually is?
  • Diagnosis is poor, it isn't referenced and clearly isn't finished ("insert text here"). This does not flow on from the rest of the page at all. It looks a bit dry with no colour or images
  • There are minimal references in 'Treatment', surely you didn't all that information out of only a few papers?
  • I like the table in 'Treatment'
  • Can you make the subheadings in 'Treatment' as actually subheadings as opposed to just bold?
  • It's coming along, but you need more images! It starts off well, but there aren't many toward the end.
  • Make sure you finish the project off!

Angelman Syndrome

  • You need to add an image in 'Introduction' or 'History', something to get the reader interested
  • You kind of repeat yourself in 'History'. Try putting more information into the timeline, as opposed to the text.
  • Epidemiology' looks a bit bare, is there a graph you can add or something? Also a bit more information can't hurt
  • Pathogenesis is HUGE, looks like you've put a lot of work into it. But, it needs to be broken up a bit. Also, shrink that first image down, it's a bit out of place. Maybe try to use proper subheadings to break it up, not just bold. Are you able to make a table out of 'Animal Models'? Ie type (mice), advantages, disadvantages, diagram (if present).
  • In 'Signs and Symptoms', you don't need the "Adapted from" you can just reference that. Or at least move it out of the table. I got confused and thought they were meant to be some of the symptoms
  • But you've got some good information in the rest of the section, nicely arranged with the images
  • Try shrinking the flow chart in 'Diagnosis', also reference it. It you made it yourself, say so
  • Nice table for 'Treatments'
  • Can you give a bit of an introduction to the table in 'Genetic Counselling', don't just jump straight into it
  • Make sure you reference that first paragraph in 'Current Research', you can't just make statements without justifying them with articles
  • Quite a good project, just need some more images and a bit of formatting

Friedreich's Ataxia

  • Where did the contents go?
  • Try splitting the introduction up into a few paragraphs as opposed to just the one
  • Is there nothing else to put in history? What you've got is good, but i'm interested in seeing a bit more
  • 'Atiology' looks good, there seems to be quite a bit of work gone into it. But how are there no references for 'Inheritance'
  • Split your paragraphs up a bit more in 'Neuropathy', at the moment it is quite difficult to read
  • Can you try to include all of the signs and symptoms into a table? It's a bit difficult to read when you list the in text; though the table already present looks really good
  • Diagnosis looks fantastic, very nicely set out and lots of interesting information
  • Try to get a picture for either 'Diagnosis' or 'Treatment'. The bottom half of the page looks a bit bare
  • Can you expand 'Current Research' a bit, explain what and how they do the research etc
  • No glossary?
  • The page looks quite good, you've clearly got a lot of information there, just need to make it a bit easier to read

Williams-Beuren Syndrome

  • 'Introduction' is good, but need an image to open up the page
  • Can you try to compile all that text in 'History' into the timeline? Otherwise it's a bit much and a bit repetitive; an image couldn't hurt either
  • Good work with 'Genetics', easy to read and interesting
  • Diagnosis might fit better below the signs and symptoms, ie after we know enough about the syndrome to fully appreciate the diagnosis
  • 'Treatment' doesn't really fit in 'Epidemiology', again this would be better towards the end of the page
  • Nice table for 'Phenotype of Williams Syndrome', very clear and informative
  • Your subtitles are a little confusing, you might want to try incorporating all the condions ie cardiac and genitinary into one section
  • Though the information within these sections is very good
  • You seem to be missing a lot of images, it's difficult to read when it's just blocks of text
  • For 'Cognitive, Behavioural and Neurological Phenotype' you need more references. You should back up what your saying with at least 2 references; though there seems to be a lot of interesting information here
  • 'Structural Differences in Brain' - only 1 reference for all that information? That doesn't seem very reliable
  • I like the topic 'Specialised Facilities and Supportive Associations', really interesting choice. Very good
  • For 'Current Research', instead of just an article reference, make a brief summary of the paper and describe why it is significant? Otherwise this section is a bit pointless.
  • The glossary can't hurt to be expanded..... and finished.
  • Overall, the page looks good, clearly a lot of research has gone into it. Just focus on making it more visually appealing, and work on those references

Duchenne Muscular Dystrophy

  • Make sure you add a proper heading for the page, so it doesn't just start with 'Introduction'
  • The 'Introduction' is a good start to the page, very easy to read and understand
  • 'History' is a bit difficult to read, try to make is sequential order, or at least bold the dates
  • In 'History' we don't really want a story, but key dates in the history of the discovery of the disorder. Surely something has happened in the past 150 years?
  • Good work with 'Pathogenesis', it is a good description of the development of the disorder
  • Can we see an image relating to the signs and symptoms?
  • 'Clinical Manifestations' is a good thorough description, though I don't understand what going on with the last section 'Smooth Muscle' with the random &&&. It is also a whole lot more general than the preceeding sections. Is it finished?
  • Could you give a bit more detail in 'Diagnosis'. It would be good to explain each method a bit more and explain why they are relevant.
  • Can you expand on the table a bit? ie P188, what exactly is it used for? How does it treat it? How effective is it? When is it administered etc
  • No current research section? This could be a good conclusion to the page - the 'Stem Cell Transplant' section from 'Treatments' would fit better here
  • The glossary needs to be finished and expanded on
  • Overall the page is not bad, but more images are needed and some clarification on topic

Cleft Palate and Lip

  • Your introduction needs to be seriously expanded. What exactly is it? Defining features? Anything?
  • 'History' could be expanded on a bit, but the timeline looks good. Try to take the spaces out between each date of the timeline, at the moment it's a bit unneccesarily long
  • 'Diagnosis' would fit better towards the end of the page closer to treatment. It is a bit hard to understand before we've even had a proper description of the disorder and clinical symptoms
  • Though the information in 'Diagnosis' is quite good, the table is also quite interesting
  • 'Syndromes and Anomalies Associated with Cleft', title should fixed up 'Associated Syndromes and Anomalies' sound better. It also needs to be finised!
  • There's not even a single reference in 'Atiology'
  • 'Developmental Staging' are you refering to Carnegie stages? If so, say so.
  • Reference!! And finish 'Pathophysiology'. You won't get the marks for just saying 'it will be done soon', think of the rest of your group
  • There is not a single reference in 'Genetic Configuruation', so where then did you get your information? This section also needs images, and a bit of formating. There isn't much consistency in the use of captial letters for 'Cleft Lip'. Either use it or don't, "seems to be related to the cause of Cleft palate and cleft lip incidence" and throughout the page aswell
  • For 'Treatment' and 'Complications' a table would be good. It is not very visually appealing as a long list. That way you can incorporate some more information as well.
  • 'Problems Associated with Cleft Palate' would be better positioned higher up in the page. How do you know what your treating if you don't even know the associated problems. Reference!
  • 'Current and Future Research' really needs to be expanded. There is no where near enough information here
  • The page is coming along, but it really needs to be finished, there are far too many gaps, and no where near enough references. Try reading multiple papers before adding information.

Lab Ten

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

A maternal infection of rubella during the second trimester has been known to cause deafness in the neonate.

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

Normally, the Eustachian tube aerates the middle ear and clear mucus from the inner ear into the nasopharynx. The neonatal Eustachian tube is not yet fully developed, and so can have reduced middle ear drainage.

1. The tube is quite short

2. It is angled horizonally, and so drainage is not entirely effective

3. In adults two muscle are active in keeping the tube open, in neonates only one is active

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

Waardenburg syndrome (type 1) is characterised by a number of features including varying degrees of deafness. It is due to the gene PAX3 which is present at the locus 2q36.1. WS1 - OMIM

Lab Eleven

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

Interatrial septation is formed from the fusion of two muscular septum (primum and secondum). During gestation, blood is able to pass from the right atria to the left via a shunt. This shunt or passage is known as the foramen ovale.

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

  • 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
  • Transposition of the Great Vessels
  • Hypoplastic Left Heart
  • Left Ventricular Outflow Tract Obstruction
  • Right Ventricular Outflow Tract Obstruction

Lab Twelve

Give examples of 3 systems that continue to develop postnatally.

  • Respiratory system
  • Musculoskeletal
  • Genital

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


  1. <pubmed>21788487</pubmed>
  2. <pubmed>21655260</pubmed>
  3. <pubmed>21828094</pubmed>
  4. <pubmed>21828094</pubmed>

--Mark Hill 00:40, 30 July 2011 (EST) Well done, you do remember some of cell biology online work. Since you have completed this online work before, perhaps you will also be able to help the students new to this format.