From Embryology

Lab sign in

--z3330313 11:14, 2 August 2011 (EST)

--z3330313 12:52, 4 August 2011 (EST)

--z3330313 11:39, 11 August 2011 (EST)

--z3330313 12:45, 18 August 2011 (EST)

--z3330313 11:35, 1 September 2011 (EST)

--z3330313 11:42, 15 September 2011 (EST)

--z3330313 12:59, 22 September 2011 (EST)

--z3330313 12:33, 29 September 2011 (EST)

--z3330313 12:56, 6 October 2011 (EST)


--Joanna Pak


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

In Vitro Fertilisation is an ART (Assisted Reproduction technology) technique, used by infertile people. It is a process whereby the egg is fertilised by the sperm outside the body. The first successful IVF baby named Louise Brown was born in1978, the procedure was carried out by Patrick Steptoe and Robert Edwards. And in 2010 the Nobel Prize was awarded to Robert Edwards for the development of in vitro fertilisation.

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

"Not all sperm are equal: functional mitochondria characterize a subpopulation of human sperm with better fertilization potential." <>

This paper proves that not all sperm carry the potential to fertilise an egg. It found that mitochondrial activity plays a major role in the functionality of the sperm. They found that the level of mitochondrial function mirrored sperm quality. In conclusion, whatever the true biological role of sperm mitochondria in fertilization, mitochondrial activity is a clear hallmark of human sperm functionality.

3. Identify 2 congenital anomalies.

-Down syndrome -Cystic fibrosis

--[--z3330313 17:31, 8 August 2011 (EST)] 17:30, 8 August 2011 (EST)] 12:52, 4 August 2011 (EST)


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

The oocyte is surrounded by a glycoprotein membrane called the zone pellucida. It is the barrier that the spermatozoa has to push through to reach the oocyte for fertilisation. The zone pellucida protein 3 is the sperm receptor that the spermatozoa binds to as an pathway to enter the cell. After fertilisation, a cortical reaction occurs where it modifies the ZP3 protein to an inactive form. Thus preventing more than one sperm from fertilising the egg.

--z3330313 15:57, 10 August 2011 (EST)

--z3330313 11:39, 11 August 2011 (EST)

Lab3 Picture

Differentially expressed RefSeq genes in human trisomy 21

Differentially expressed RefSeq genes in human trisomy 21.jpg

Lab 3 Online Assessment

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

Folic acid or otherwise known as B vitamin (B9) is helps the neural tube to develop. Without folate the neural tube may not close properly. Thus the baby can develop spina bifida. Vitamin's B6 and B12, the minerals Iron and Magnesium, and all the other major and trace minerals and other nutrients which are involved in normal cell division and replication. Including the amino acids, which are the structural building blocks for new tissue.

  2. Upload a picture relating to you group project. 


--z3330313 09:37, 18 August 2011 (EST)

--z3330313 12:45, 18 August 2011 (EST) (lab sign in)


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.

-Foramen ovale located between atrias and allows direct blood flow between the atria of the embryo without blockage

-Ductus arteriosus located between the pulmonary artery and the ascending aorta.

-Ductus venosus located between the inferior vena cava and the umbilical vein

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





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

The left side is the most common location for diaphragmatic hernias because it fuses after the right hand side. The failure of the pleuroperitoneal foramen to fuse is the hernia.

--z3330313 02:34, 1 September 2011 (EST)


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

Week 9

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

Chicken model

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

Tetralogy of Fallot


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

Satellite cells are not necessary for muscle hypertrophy, however they are involved in the process of development of new muscle fibres.

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

Trisomy 21

-Introduction: Does cover details of the disorder briefly however the format did not flow because for some of the information written it looked as though it belonged to the glossary section of the page. But there was a good use of external links

-Some recent findings: Regarding the flow of the page the next sub heading did not fit. It would be more appealing if the "some recent findings" heading were to be loacted near the end of the page. However, the information was written very well and easy to read/condensed.

-Trisomy 21 (Down Syndrome) Karyotypes : The use of images is to be congratulated, it is a helpful visual aid. However, the use of good image was not taken advantage of in written form. The information written was limited and too brief, the writer relied on the image too much.

-Associated Congenital Abnormalities: This section had a list of the abnormalities however that was just it. There was no explanation of what type of disorder it is or any description what so ever. This section is somewhat of an important sub heading as it deals with abnormal changes to the embryo or fetus during development but the writer only left a brief note which only shows laziness.

-Heart Defect: Very good use of statistics and external links to help the reader understand the information laid out. Most words were hyperlinked to the glossary section, maybe instead of doing that the writer could just incorpate the information into the main text because it is not just one word but a few thus it would be easier to read it in one go also these words are bulletpointed anyways.

-Limb Defects: Good use of external links again and a nice image but why not conbine the previous subheading into one heading as, "DEFECTS" because they were both short pieces of information and they both relate to the same topic so it would thus look more appealing and less spaced.

-It would be a suggestion to have a subheading as "epidemiology" so not only information on prevalence will be covered but also statistics on rate of incidence etc.. and why it is occurring at that rate. Furthermore, if Australian statistics were to be used than that would be fantastic as it would be more relevant to us.

-The reference list was good. It was categorised into the different types of sources used. A good job!

--z3330313 00:22, 22 September 2011 (EST)


Hi Mark I forgot to paste the peer reviews on my page last week, so I'm doing it now.

Group 1 - Peer assessment

  • Introduction - sentences are too long, especially the first topic sentence however, overall it was quite informative.
  • Maybe put in the history to the disease ?
  • Epidemiology - the images are not structured properly, it ruins the appearance of the project page. Maybe you could move the first image to the introduction section.
  • Etiology - Good use hyperlinks, however again the images are scattered across the page. A structured layout would make reading the information easy to read.
  • Clinical Manifestations - Due to the image on the side of the heading I missed the entire heading. It would be a good idea to fix it up. It is nice to see lists because they are easy to read and grabbed information from but there were no explanation paragraphs after the list so it just looks like a compilation of brief information. If there were some information in the form of sentences after the points then it would make this section very informative*.
  • Diagnostic Procedures - A suggestion would be to make the sub-headings within the text more prominent because the images in the table make it harder to distinguish the next sub topic. In regards to the table, the use of the images were very good. Maybe you guys could make the images abit smaller though and include another column in the table expanding about the syndrome some more.
  • Treatment - Some of the sub-headings have information that are just one sentence long, maybe you guys could just make the whole section into paragraphs instead if you don't choose to expand on the sub topic.
  • The glossary looks good but for referencing there is a problem of double, even triple referencing the same paper.

Group 2 - Peer assessment

  • The introduction is easy to read and understand. Maybe one thing you could improve on is the organization of the paragraphs because it looks abit too choppy as of now.
  • The history looks amazing and well researched AND well referenced! Makes me believe and trust your project even more. Furthermore the picture on the right just makes the section more appealing.
  • Epidemiology - the information flows well and examples are also mentioned which is nice to see
  • Etiology - The information is ok but maybe it could be better explained with explanation of the technical terms within your texts
  • Pathogenesis/Pathophysiology - the student drawn images look amazing! And the organisation of information is good. Maybe a suggestion would be to hyperlink some of the terms in the text because there was alot of technical terms to be scrolling down and up for.
  • Diagnostic Tests - The layout is very appealing and consistent with the rest of the page. The spelling of the heading is wrong!
  • Maybe for the glossary it would be a good idea to include headings such as "A", "B" etc
  • Fixing up double referencing would be a good idea aswell

--z3330313 19:36, 28 September 2011 (EST)

Group 3 - Peer assessment

  • The introduction is abit lengthy and choppy because some paragraphs are just 1-2 sentences. Maybe try to connect them into one paragraph and try to make it flow better.
  • The history was quite informative maybe put the timeline at the top and the text at the bottom and maybe try to add more recent dates.
  • Epidemiology - the use of figures are good and it is explained well in the text
  • Aetiology - good idea in external linking images! the information is easy to easy as it is well structured
  • Signs and Symptoms - the table is abit confusing to read, althought the information is well reduced
  • Other Similar Defects - maybe the use of lines within the table would be better to separate the columns and rows because it is abit hard to read

--z3330313 19:50, 28 September 2011 (EST)

Group 4:

  • The page had a nice format that was appealing to read.
  • The structuring of the images between and beside the text was perfect because it was not too big and not too small. It was easy to view and nice to see.
  • The table for the treatment heading was nice but the last column is hard to read because the information was listed in a horizontal fashion maybe changing it and putting it into dot point form would be good.
  • The student drawn image was clear!
  • Fixing the formatting/structure of the glossary heading is needed
  • Double referencing can be seen
  • Sub heading for the video would be nice to see. The idea of including a video is quite nice.

--z3330313 19:57, 28 September 2011 (EST)

Group Project 5

  • The introduction was too in detail and did not seem like an introduction. Also there are no references ?
  • the history is easy to read
  • Etiology - very nice section of information but some sentences seem too long.
  • Development of the Disease - was a good idea to put this in and the information is easy to read, maybe include some hyperlinks to the glossary?
  • The treatment table is quite informative and easy to read due to its structure and quite appealing to the eyes
  • More terms should be added to the glossary

--z3330313 20:02, 28 September 2011 (EST)

Group 6

  • The introduction is good but it would be better if there was some referencing.
  • The history seemed abit chunky ? maybe a summarised version in a form of a timeline would be good. But overall the use of images is good, it breaks up the heavy text more.
  • Epidemiology was abit too short, maybe expanding on why it is this pattern and etc would be a good idea.
  • Signs and Symptoms had a nice summary of information. Maybe more pictures would make it more easy on the eyes because this section is quite big on the info. But the audio is a interesting idea!
  • Genetics - Firstly, maybe get rid of mark's post. Secondly the layout of information is not that appealing, maybe you could underline the headings to make it more definite. Lastly, the use of images is good! it is very consistent for all genes.
  • Diagnostic Tests section was not referenced! If it was then this section would be a winner, if it was completed!
  • Overall, it looks like you guys have done alot of research. Good job!

--z3330313 00:01, 29 September 2011 (EST)

Group 7

  • The introduction is very brief but it is too the point, maybe add a picture to catch the attention of readers.
  • The history had good information but it is not referenced AT ALL. However disregarding the fact that there are no references, the timeline is nice and simple and most importantly easy to understand.
  • The epidemiology is short and brief, maybe add a graph to add more information and to show the pattern of the disease. It is nicely referenced
  • Aetiology is brief and simple, the image is sized too long thus creating a big gap of space on the page. Either resize the image or fill the space with more information.
  • The pathogenesis is quite long and the big image does not help it making the section look more smaller. Maybe cut down and simplify the information.
  • Some of the layout needs to be fixed such as the format between the pathogenesis and signs and symptoms.
  • Some of the referencing is repeated (double referencing)

--z3330313 00:23, 29 September 2011 (EST)

Group 8

  • The introduction had a nice flow, maybe fix the image on the side for better formatting
  • A suggestion would be to expand on the timeline because it is quite brief.
  • The use of sub-headings do make it easier to read but it looks not appealing because the information after the sub-headings seem too short. Maybe include a graph!
  • Aetiology is not referenced well even though there's so much information there.
  • Neuropathology section is too long and i wonder is it really needed too this much of an extent.
  • Use of tables is good and well written
  • The current research section is short and easy to read. It is nice to see that each point is referenced.

--z3330313 00:33, 29 September 2011 (EST)

Group 9

  • The introduction is easy to read and brief. It has been referenced well.
  • The history section however is difficult to read because there is so much information. Maybe including an image would help and formatting the timeline into a table as well.
  • Maybe it would be a good idea to place epidemiology after history for the flow of the page
  • And the sub-headings underneath epidemiology deserve its own heading such as treatment and management as it has nothing to do with epidemiology
  • Phenotype of Williams Syndrome - nice piece of extra information however it is not referenced at all
  • Nothing follows after other problems...
  • Other Associated Medical Conditions - so much is dedicated to this section! maybe reduce the amount of info.
  • Furthermore the glossary is incomplete
  • However overall it is a good start. There were some good images used and the information was understandable

--z3330313 00:57, 29 September 2011 (EST)

Peer Review

  • Introduction is way too brief and no referencing what-so-ever
  • Combine history and timeline together
  • Types of Cleft Palate/Lip was quite an interesting section. Although some of the images were abit too much.
  • Double referencing!
  • For treatment the layout could have been better, it is hard to read

--z3330313 00:42, 29 September 2011 (EST)


Red zone - Group 10 project

Hi Mark,

I was marked as a red zone student for the group project contributions & discussions.

Concerning the group project contributions: I may have had a low count of edits because I wrote my parts on word and then uploaded the whole text onto wiki through 1 edit. My contributions to the group are as follows,

Duchenne Muscular Dystrophy (DMD)

The location of the dystrophin gene on an X chromosome

Duchenne muscular dystrophy (DMD) is a sex-linked disorder mostly affecting males because it is a recessive X-linked disease. It is caused by a mutation in the gene that produces the important muscle protein, dystrophin. In humans this gene is located on the X chromosome, thus if a female has one affected X-chromosome then they are said to be a carrier of the disorder and can pass on the altered gene to her offspring. However, if a male inherits the altered X-chromosome they will become a sufferer of this disease because they only have one X-chromosome.

The dystrophin gene is the largest gene in nature on locus Xp21, spanning 1.5% of the X-chromosome which may explain it’s unusually high spontaneous mutation rate [1]. In DMD the protein dystrophin is not produced, when it is an important structural component for muscle tissue during contraction. Thus it results in muscle degeneration, difficulty in walking, breathing and death. The increase in muscle damage accompanies abnormal blood flow within the muscle which leads to progressive limb weakness, respiratory and cardiac failure and eventually premature death [2]. The rate of progression of the disorder is fast and the age of onset is from 2-6yrs of age.[3].

Pathologically, the main feature found in muscle biopsies from patients that suffer from DMD is fibrosis [4], the muscle is replaced with fibro-adipose tissue and it directly causes muscle dysfunction and contributes to the lethal DMD phenotype [5]. Unfortunately there is no known cure for this disorder, however due to advances in this technological era there are now many treatment methods that help delay the progress of the disease and manage the symptoms associated with it. Patients of DMD experience poor life quality and an extremely lowered life expectancy, it was only until recently, procedures that delayed the progress of the disease and that help increase the quality of life have been brought about [6].


Historical Background of DMD

Date Brief description

Dr W J Little reported two affect boys aged 12 & 14 that were unable to walk. Both were later found to have most of their leg muscles replaced with fat [7].


Meryon described at a meeting of the Royal Medical and Chirurgical Society 8 boys presumed to be affected with Duchenne Muscular Dystrophy [7]


Duchenne first describes the disease, a young boy whose condition characterised by the hypertrophy of the boy's calf muscles [8]


Duchenne provided a much more detailed account of the boy's disease, DMD [8]


Discovery of Becker Muscular Dystrophy, a less severe form form of DMD. The x-linked pattern of inheritance for DMD is confirmed.[9].


Gene responsible for DMD is found by Louis Kunkel's team & the protein made from this gene is described and named dystrophin [9]


The reason for severity of DMD is found. It is determined by the amount of dystrophin present in the muscle-fibre membrane. The less dystrophin the more severe the symptoms [9]


Dystrophin gene is miniturised to facilitate gene therapy and research into stem cells is on its way to cure DMD [9].


Corticosteroid prednisone trials found effective in slowing down the progression of DMD [9].


Important research on the autosomal homologue of dystrophin, utrophin. It is found to have a strong ameliorating effect on the pathogenesis of DMD and has extreme potential for being effective treatment for all genetic mutations of Duchenne and Becker's muscular dystrophy.

Dr Edward Meryon

Throughout history there have been cases that suggested muscular dystrophy, however, the first clinical descriptions of dystrophy in the English language did not appear until the 19th century. [10]. The earliest report of muscular dystrophy was from Dr Edward Meryon of St. Thomas’s Hospital, London. Born in 1809, Meryon was an English physician. He published several books concerning the nervous system and in one of his publications Meryon described eight affected boys in three families with a disease later to be identified as Duchenne Muscular Dystrophy[7]. His findings were reported in the Transactions of the Medical and Chirurgical Society in December 1851 [11].

In his studies of the disease, Meryon conducted several necropsies and found the spinal cords were intact which concluded that the disease was not from the nervous system. Instead, he found that the muscles throughout the body were atrophied, soft and almost bloodless. Further microscopic examination of the muscle showed that the muscular fibres were broken down and converted into granular, fatty matter [7]. Therefore Meryon named the condition “Granular degeneration of the Voluntary muscle”. Meryon concluded there was a familiar nature to the disease that was selective for males which primarily affected muscle tissue [11].

Out of the three families he studied there were eight affected brothers and nine healthy sisters, this supported his conclusion of the disease being selective to males. Meryon’s discovery was of 10 years prior to Duchenne. He characterised the disorder as a progressive muscle wasting disease leading to premature death in the late teens, that begins in early childhood. The disease was later to be referred to as Duchenne muscular dystrophy.

Guillaume Benjamin Amand Duchenne

Guillaume Benjamin Amand Duchenne

Guillaume Benjamin Amand Duchenne was the first to describe DMD, and thus the disease is named after him. He was born in Boulogne-sur-Mer in France, on 17 September 1806 [8]. Duchenne was a family doctor for 11 years who was interested in the study of electrical stimulation of muscle [8]. He first became interested in muscular dystrophy in 1858, and formally described it in 1861. Duchenne also invented the “harpoon” which was a needle system that he utilised to obtain percutaneous samples of muscular tissue without anesthesia [8]. This technique allowed study of material from the same patient at different stages of the disease.

Duchenne defined the disorder as:

  • progressive weakness of movement first affecting the lower limb then later the upper
  • pathologically; loss of striation of muscle replaced by granular matter and fat vesicles. Furthermore an increase in interstitial connective tissue in affected muscles with the production of abundant fibrous and adipose tissue in the later stages
  • a gradual increase in the size of many affected muscles
  • an onset during early childhood or early adolescence that is, more prevalent in boys than girls
  • can affect several children in a family [12]


State Incident rate (per 100 000 Male-liveborns)
Western Australia

20.2 [13]


21.9 [13]


16.4 [13]


18.6 [13]

The incidence rate for DMD is about 1 in 3500 boys. All ethnic groups are equally affected. The most common form of muscular dystrophy found in children is Duchennes and it predominately affects males because it is an X-linked recessive disorder. Interestingly the average age of diagnosis is 5 despite the earlier onset of symptoms [14]. Between 1960 to 1971, one per 5377 liveborn males or one per 5226 liveborn males surviving to five years of age had Duchenne muscular dystrophy. Of these 64% were isolated cases meaning they were the only affected member of the family and 34% were familiar cases in New South Wales and the ACT [15].

My work is still under work.

And also regarding my discussions, most of the time I spoke to the members through face to face talks because I see the group 10 members during the week in my other classes. We also contact eachother through text message and facebook etc.

--z3330313 02:15, 10 October 2011 (EST)

Lab 10 Online Assessment

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

-Rubella virus

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

The auditory tube's angle is almost horizontal, it is also short and narrow.

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

Treacher Collins syndrome

Lab 11 Online Assessment

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

The two components that give rise to the interatrial septum are the septum primum and the septum secundum. During the passage that connects the right and left atria are open and those two passages are foramen ovale and foramen secundum.

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

-pulmonary stenosis -aortic stenosis

Lab 12 Online Assessment

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

-respiratory system -gastrointestinal system -reproductive system

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

-Cystic Fibrosis -Homocystinuria -Galactosemia

--Joanna Pak 18:09, 28 October 2011 (EST)

  1. (
  2. <pubmed>21574524</pubmed>
  3. (
  4. <pubmed>20613637</pubmed>
  5. <pubmed>21263136</pubmed>
  6. <pubmed>19774532</pubmed>
  7. 7.0 7.1 7.2 7.3 <pubmed>8326496</pubmed>
  8. 8.0 8.1 8.2 8.3 8.4 <pubmed>16225184</pubmed>
  9. 9.0 9.1 9.2 9.3 9.4 MDA 2011, Milestones in Duchenne Muscular Dystrophy Research, (
  10. Alan E. H. Emery, 1987, Duchenne Muscular dystrophy, Oxford Medical Publications, New York. pp.10
  11. 11.0 11.1 Alan E. H. Emery, 1987, Duchenne Muscular dystrophy, Oxford Medical Publications, New York. pp.12
  12. <pubmed>10449553</pubmed>
  13. 13.0 13.1 13.2 13.3 <pubmed>7205898</pubmed>
  14. <pubmed> 19834452</pubmed>
  15. <pubmed> 7205898 </pubmed>