--Z3331469 12:55, 28 July 2011 (EST)
--Z3331469 12:37, 4 August 2011 (EST)
--z3331469 11:06, 11 August 2011 (EST)
--z3331469 12:29, 25 August 2011 (EST)
--z3331469 12:42, 1 September 2011 (EST)
--z3331469 11:53, 15 September 2011 (EST)
--z3331469 12:59, 22 September 2011 (EST)
--z3331469 12:07, 29 September 2011 (EST)
--z3331469 11:54, 6 October 2011 (EST)
Lab 1 Assessment
1. Identify the origin of In Vitro Fertilization and the 2010 nobel prize winner associated with this technique.
In Vitro Fertilisation (IVF) is one form of Assisted Reproductive Technology (ART) used to treat infertility. It involves the fertilisation of the egg cell by the sperm outside of the human body; hence the term in vitro meaning within glass referring to a laboratory environment where analysis of the study may take place.  The first so-called "test tube baby" was born on July 25, 1978.  This achievement was attributed to the work of Patrick Steptoe and Robert Geoffrey Edwards with Edwards being awarded the 2010 Nobel Prize in Physiology or Medicine for the development of in vitro fertilisation. 
2. Identify a recent paper on fertilisation and describe its key findings.
Key findings of this paper include:
Cryopreserving embryos at the zygote stage was associated with lower survival rates and lower implantation rates compared with freezing at the blastocyst stage
Growing embryos to the blastocyst stage prior to cryopreservation was associated with a decrease in the total number of embryos cryopreserved, although chances of achieving pregnancy when doing this did not change
Significantly more D3 embryos and blastocysts survived the thawing process compared to zygotes and significantly higher implantation rate per number of thawed blastocysts was achieved than that for zygotes.
3. Identify 2 congenital anomalies.
A congenital anomaly can be defined as a physical abnormality of a baby which is present at birth. One congenital anomaly, anencephaly, is "characterised by the total or partial absence of the cranial vault, the covering skin, and the brain missing or reduced to a small mass". Another congenital anomaly, microtia, is "characterised by absent parts of the pinna (with or without atresia of the ear canal)". The severity of this anomaly is graded from I-IV, grade IV representing complete absence of the pinna.
--Mark Hill 10:11, 3 August 2011 (EST) You still need to answer the second question before Lab 2 this week.
Lab 2 Assessment
1. Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilisation.
Zona Pellucida Protein 3 (ZP3) allows spermatozoa to bind to the oocyte during fertilisation. Following fertilisation and the resulting acrosome reaction, calcium levels are increased, depolarising the plasma membrane, preventing the binding of other spermatozoa.
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)
Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. 
Article: Elevated Ambulatory Blood Pressure in 20 Subjects With Williams Syndrome 
Lab 3 Assessment
1. What is the maternal dietary requirement for late neural development?
2. 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.
Lab 4 Assessment
1. The allantois, identified in the placental cord, is continuous with what anatomical structure?
The allantois is continuous with the hind-gut
2. Identify the 3 vascular shunts, and their location, in the embryonic circulation.
Ductus arteriosus - located between the pulmonary artery and the aortic arch
Ductus venosus - located between the umbilical vein and the inferior vena cava
Foramen ovale - located between the left and right atria
3. Identify the Group project sub-section that you will be researching.
Genetic Factors, Associated Medical Conditions: Renal Abnormalities, Epidemiology, Management/Treatment, Specialised Facilities/Supportive Associations, Case Studies, Interesting Facts, Current Research and Developments.
--z3331469 10:45, 25 August 2011 (EST)
Lab 5 Assessment
Which side (L/R) is most common for diaphragmatic hernia and why?
The left side is the most common side for congenital diaphragmatic hernias
Lab 6 Assessment
1. What week of development do the palatal shelves fuse?
The palatal shelves fuse in Week 9.
2. What early animal model helped elucidate the neural crest origin and migration of neural crest cells?
The chicken embryo model helped elucidate the neural crest origin and migration of neural crest cells.
3. What abnormality results from neural crest not migrating into the cardiac outflow tract?
Tetralogy of Fallot results from neural crest cells not migrating into the cardiac outflow tract. Truncation of the outflow tract may result because of this. This was shown in a study using quail-chick chimeras. 
Lab 7 Assessment
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy?
Satellite cells are not necessary for muscle hypertrophy but they are generally involved in the hypertrophic process.
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift?
Chronic Low Frequency Stimulation (CLFS) is an artificial type of nerve innovation. In general, it increases satellite cell content and activity ultimately causing the fibres to change from fast to slow type fibres.
Trisomy 21 Assessment
- Lacks structure. Some of the detail included could belong in a separate sub-heading such as ‘Epidemiology’ or ‘Genetic Characteristics’.
- Definition of ‘Aneuploidy’ belongs in the glossary, not in the introduction sub-heading.
- Link to increased genetic risk with maternal age belongs in a subheading of its own such as ‘Associated Factors’ or ‘Contributing Factors’
The image provided to the right of the introduction has no copyright statement and also has no description provided.
Some Recent Findings
- This sub-heading could be worded a bit better, ‘Recent Findings’ would be more suitable
- The explanations of the studies are not directly addressing the audience. Explanations are just quotes from the abstracts of the various studies mentioned. There is no element of explaining the studies in order to teach at a peer level.
Trisomy 21 Karyotypes
- No explanation of image and no copyright statement provided.
Associated Congenital Abnormalities
- This is a good start to the section but each dot point needs further depth and explanation. Further referencing is required and formatting must be attended to.
Heart Defects/Limb Defects
- Links provided here are helpful, although I think it would be suitable to have some form of description of each of the defects on this page.
American College of Obstetricians and Gynecologists Recommendations
- This should not be a sub-heading, the information found here should be under headings such as ‘Diagnosis’, ‘Management’ or ‘Screening’
Meiosis I and Meiosis II
- This should not be a sub-heading, it might better be suited to a headings such as ‘Recent Findings’ or ‘Associated Research’
- Again, this belongs in the glossary and should not be a sub-heading
- Further description and explanation required.
- I like the introduction as it has some structure in place, just need to fix up the grammar and adjust some of the sentences as the wording used makes it difficult to read.
- I like the information in the sub-heading epidemiology, it flows very well, apart from a few grammar mistakes it’s fine in my opinion. The graph included at the bottom of this subheading however has no copyright info.
- The image under etiology could be formatted appropriately so that the text included beside it is easier to read. Fantastic use of the links to the glossary. Really, really useful. Best part about this page. How did you do it?!
- The images included under the sub-headings prenatal diagnosis and postnatal diagnosis are huge, reformatting would help maybes.
- Glossary is great, good work guys.
- By looking at your page it’s clear you’ve performed extensive research on DiGeorge Syndrome, well done on the effort
- Spelling needs to be attended to....’Diagnostic Tests’
- The image included in the introduction could use a legend. Maybe you could refer to it in the introduction, but to me it’s just a picture of 3 babies
- Nice work on the historical background, grammar could be attended to easily, just some minor things really. This timeline could be better formatted though, maybe in a table. The image included here doesn’t have a legend or some form of description. Just a picture of two old-timers shaking hands.
- Epidemiology is great although it might be useful to include an image of some sort if possible (I’ve got the same problem) as it’s just a block of text
- Etiology is good, very descriptive and evidence of a well researched sub-heading.
- Diagnostic Tests – clever heading, clever formatting and great information. The images included definitely need legends and descriptions
- Current and Future Research heading could be broken up with some sub-headings
- Glossary looks great
- Introduction seems a bit wayward to begin with. Maybe introduce the syndrome first and then briefly explain meiosis, it just seems a bit indirect. I like how the intro touches on some aspects to be described later in the page but, good work.
- History section could be organised a bit better I think, the combination of text and timeline is good but there must be a balance, right now there’s a big block of text and a teeny timeline
- People might have already said this but I think the epidemiology section is too broad and covers topics outside of its section (clinically diagnosed characteristics and such)
- Aetiology – I definitely like this section, the image is perfect and relates to the non-disjunction paragraph, information provided here is clear and easy to understand.
- Pathogenesis – maybe consider reformatting the images so that the information under ‘Anaphase Lagging’ is easier to read, and the heading ‘Nondisjunctiom’ is not in the middle, would add to continuity and the flow of the entire page if all headings were aligned to one side
- Other Similar Defects – this table is really hard to read, but the information is good, although it does need to be referenced properly
- Nice glossary and current research headings, I don’t really see anything to fix. Good job guys.
- Very clear introduction, seems well researched and easy to understand
- History – good structure, my only suggestion is to put the timeline into a table and to highlight or bold the years mentioned, it’d look sweet as then.
- I like the tables in epidemiology, same colour structure could be used for the timeline under history maybe?
- Genetics – quite possibly the best heading on this page, I’m sure other people have mentioned this but ‘Huntington Gene’ the sub-heading is spelt wrong. Great incorporation of the student drawn image, this heading is very clear and easy to follow.
- Image under ‘Molecular Mechanisms & Pathogenesis’ is a bit big in my opinion, maybe consider reformatting it so the text is not broken up so suddenly.
- Image under ‘Clinical Manifestations’ could be better placed on the right hand side of the page so that there is continuity on the page, same with the other images under ‘Video of Huntington's disease patient’ and ‘Treatment’ and ‘Current/Future Research’
- Overall a well detailed page that is easy to understand and clear in its aims.
- Introduction - ok except it was a bit hard to read with the text squeezed between the two images located left and right, maybe both images could be placed on one side, such as the right, to make it easier to read and add to the continuity and flow of the page. There is a lot that could be expanded on to add to the introduction, maybe a brief explanation of the FMR1 gene and the phenotypic manifestations as a result of it being silent.
- Etiology, not really sure but i don’t think you’ve referred to the images included here, formatting could be improved with both images being on one side
- Development of the Disease – very nice heading, information easy to follow and well referenced, best heading on this page, great job.
- Signs and Symptoms – another very well organised section
- Diagnosis – this section could be best suited to a table, making each technique easy to identify and define.
- Treatment – great use of a table, information is very clear and easy to understand.
- Glossary – more terms need to be added, such as the acronyms used throughout the page: ADHD, CGG, PCR, FXS, etc.
- Introduction is good and very clear, except there are no references, easily fixed but (Y)
- History could be incorporated into a table, or at least, the dates could be bolded or highlighted to establish progress through time.
- Good use of subheadings under ‘Signs and Symptoms’, might be beneficial to include more images as examples of each symptom, but just enough to provide a balance between text and images
- Genetics – well organised information, incorporation of images is excellent, many of the terms mentioned here could be defined in the glossary
- ’Pathophysiology and Abnormalities’ – this section definitely needs to be referenced, but good info.
- ’Treatment/Management’ – this table needs borders, i was easily confused as to which paragraph i was reading, but great info.
- Glossary could have a lot more terms included.
- Great introduction, detailed enough to engage the reader and leads well into other sections which further detail the described topics.
- History section needs references, but a good combination of text and the timeline table.
- Epidemiology needs more detail if it can be found and added.
- Aetiology is great, very clear and easy to understand.
- Image under ‘Pathogenesis’ could be reformatted to suit the page better, because right now it is just huuuge, but it relates well to the text.
- Table under ‘Signs and Symptomes’ needs some borders, I got really confused =/ A well referenced section though.
- Each diagnostic method could be highlighted in bold or something, the bullet points don’t make them very noticeable. A legend could also be included under the image of the procedure for prenatal diagnosis of AS
- Table under treatment and management could use some borders.
- Great intro, very succinct, and great history. Timeline could be formatted into a table, if you want, doesn’t really matter. Information is well referenced.
- Aetiology – image is difficult to see, maybe use a black marker or felt tip. Bold text corresponds with glossary which is great, maybe you could go a step further and link the words to the glossary. Evidence of extensive research, gooooood job.
- Neuropathology is a well researched section, great formatting and very well structure paragraphs, great work.
- Table under ‘Clinical Presentation’ could have clearer borders, along with the table under ‘Diagnostic Tools’ and ‘Postnatal Diagnosis’
- Great work on the glossary, really extensive and most terms are included
- Introduction – Great intro, well referenced apart from the first paragraph.
- History has a lot of text, a timeline could work well here and also an image if possible just to break up the text.
- Epidemiology – well referenced and structured, text could be broken up but that’s nothing major as it’s a small section.
- Aetiology – A link between the image provided and the text would work well, and also the image could be formatted on the right of the page, to add to continuity and flow as other images are located on the right.
- Signs and Symptoms – Needs to be more information here, a description of each symptom and maybe its direct causes.
- Clinical manifestations – need a link between the image and the text, other than that it is well referenced and easy to understand.
- Treatment – table formatting is great and information is helpful
- Glossary – needs to include more terms form the page.
- There’s some doubling up in the reference section that needs to be fixed, other than that good job.
- Introduction – could use some referencing, an image if possible, and a brief introduction to the other sections of the page.
- History could go with Timeline as they are both related, the timeline could also be put into a table, but it’s fine the way it is (Y)
- Diagnosis is a well researched section, some great information here.
- Image under developmental staging could use a legend and could be formatted to add to the continuity of the page.
- ‘Types of Cleft Palate/Lip’ – dot points need to be fixed up, unilateral and bilateral should be formatted to the left, and dot points should follow under each sub-heading as per normal, an easy fix.
- Pathophysiology – ummm... “DRAWING!!! To be added soon.”....some references missing here.
- Genetic configuration – could include a student drawn image of the genes involved.
- Treatment – needs to be formatted better in order for it to be read easily.
- Current and future research needs more detail, glossary also needs a lot more entries.
--z3331469 08:39, 29 September 2011 (EST)
Lab 10 Assessment
1. Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss.
Cytomegalovirus is another environmental teratogen that can lead to hearing loss.
2. Identify 3 factors that contribute to poor neonatal drainage of the middle ear.
At birth and throughout the young child's life, the Eustachian tube is shorter (8-9mm) than it is in adults (17-18mm). This full length of the Eustachian tube is not reached until about seven years of age, and so fluid accumulation in this part of the ear occurs very easily and quickly.
The Eustachian tube also remains in a typically horizontal plane resulting in the accumulation of fluid. Until the head begins to grow into adult size, the tube remains in a horizontal plane before growing and moving to a more 45* angle.
In the infant there is only a single muscle, the tensor palati muscle, which opens and closes the auditory tube leading to the pharynx. In adults, there are two muscles which assist in this action, the tensor palati and levator palati muscles.
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
Lab 11 Assessment
1. Name the components that give rise to the interatrial septum and the passages that connect the right and left atria.
The septum primum grows towards the fusing enocardial cushions from the roof of the primordial atrium, dividing the atrium into right and left halves. It is derived from the myocardium, which itself differentiates from splanchnic mesoderm. As it grows, the foramen primum acts as a shunt, allowing oxygenated blood to pass from the right to the left atrium. The foramen primum eventually closes as the septum primum fuses with the endocardial cushions to form a primodrial AV septum. However, in order for oxygenated blood to be shunted continuously from the right to the left atria, perforations produced by apoptosis appear in the central part of the septum primum before the foramen primum completely disappears. These perforations eventually form the foramen secundum, one of the passages that connect the right and left atria.
The septum secundum grows adjacent to the septum primum and overlaps the foramen secundum in the septum primum. This forms an incomplete partition betweent he atria, and as a consequence the foramen ovale is formed, the second passage that connects the right and left atria.
2. Identify the cardiac defects that arise through abnormal development of the outflow tract.
- Transposition of the Great Vessels
- Coarction of the Aorta
- Pulmonary Stenosis
Lab 12 Assessment
1. Give examples of 3 systems that continue to develop postnatally.
- Respiratory system - absorption of fluid at birth by alveoli, rib orientation changes from horizontal to oblique.
- Cardiovascular system - vascular shunts (foramen ovale, ductus arteriosus, ductus venosus) all close postnatally.
- Gastrointestinal system - fluid in the GIT is lost. The GIT absorbs immunoglobulins attained from the mothers' milk.
2. Identify the abnormalities detected by the Guthrie Test and link to one abnormality listed in OMIM.
Some abnormalities detected by the Guthrie Test include:
- Cystic fibrosis