Difference between revisions of "User:Z3288729"

From Embryology
 
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--[[User:Z3288729|z3288729]] 11:12, 4 August 2011 (EST)
 
--[[User:Z3288729|z3288729]] 11:12, 4 August 2011 (EST)
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--[[User:Z3288729|Sarah Jenkins]] 11:10, 18 August 2011 (EST)
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--[[User:Z3288729|Sarah Jenkins]] 11:11, 25 August 2011 (EST)
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--[[User:Z3288729|Sarah Jenkins]] 12:28, 1 September 2011 (EST)
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--[[User:Z3288729|Sarah Jenkins]] 11:31, 15 September 2011 (EST)
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--[[User:Z3288729|Sarah Jenkins]] 11:45, 22 September 2011 (EST)
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--[[User:Z3288729|Sarah Jenkins]] 11:00, 29 September 2011 (EST)
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--[[User:Z3288729|Sarah Jenkins]] 11:00, 9 October 2011 (EST) (I forgot to log on in class on the 6th of October sorry)
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--[[User:Z3288729|Sarah Jenkins]] 12:05, 13 October 2011 (EST)
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--[[User:Z3288729|Sarah Jenkins]] 11:29, 20 October 2011 (EST)
  
 
==Lab One==
 
==Lab One==
Line 40: Line 58:
 
'''Primary''' [http://www.ncbi.nlm.nih.gov/pubmed/21681700 Detection of duchenne/becker muscular dystrophy carriers in a group of Iranian families by linkage analysis.]
 
'''Primary''' [http://www.ncbi.nlm.nih.gov/pubmed/21681700 Detection of duchenne/becker muscular dystrophy carriers in a group of Iranian families by linkage analysis.]
  
==Lab Three===
+
==Lab Three==
  
 
'''What is the maternal dietary requirement for late neural development?'''
 
'''What is the maternal dietary requirement for late neural development?'''
Line 48: Line 66:
 
'''Upload a picture relating to you group project.'''
 
'''Upload a picture relating to you group project.'''
  
[[File: DiGeorge related image.jpg|thumb|left]]
+
[[File:DiGeorge_T_cell_receptor_Diversity_post_thymus_transplant.jpg|250px]]
 +
 
 +
 
 +
--[[User:S8600021|Mark Hill]] 12:20, 16 August 2011 (EST) Good image and the information included is correct. I don't really like the image name as it does not indicate what the image is about. Looking at the original figure legend is also not as helpful, perhaps modified from the paper title "T-cell receptor diversity with thymus transplantation for DiGeorge anomaly" or along those lines.
 +
 
 +
 
 +
==Lab Four==
 +
 
 +
'''The allantois, identified in the placental cord, is continuous with what anatomical structure?'''
 +
 
 +
The allantois is a membranous sac that is continuous with the splanchnic mesoderm and the embryonic gastrointestinal tract.
 +
 
 +
'''Identify the 3 vascular shunts, and their location, in the embryonic circulation'''
 +
 
 +
* Ductus arteriosus- It attaches the pumonary artery to the aortic arch so that blood bypasses the lungs.
 +
 
 +
* Ductus venosus - shunts half of the arterial blood flow from the umbilical cord so that it is able to bypass the liver
 +
 
 +
* Foramen ovale- shunts oxygenated blood from the right atrium to left atrium so bypass the ventricles.
 +
 
 +
'''Identify the group project subsection you will be researching'''
 +
 
 +
* Introduction
 +
 
 +
* Historical background
 +
 
 +
* Diagnosis
 +
 
 +
==Lab Five==
 +
 
 +
'''Which side (L/R) is most common for diaphragmatic hernia and why? '''
 +
 
 +
Diaphragmatic heriation occurs most commonly on the left side <ref>http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002120/</ref>. Herniation occurs when there is abnormal closure of the pleuroperitoneal folds. These folds close to separate the lungs from the gut. The right side often closes first, and as such leaves it more likely for gastrointestinal structures to move up before the membrane is fused closed.
 +
 
 +
==Lab Six==
 +
 
 +
'''What week of development do the palatal shelves fuse?'''
 +
 
 +
Week 9
 +
 
 +
'''What animal model helped elucidate the neural crest origin and migration of cells?'''
 +
 
 +
Chick-Quail Chimeras
 +
 +
'''What abnormality results from neural crest not migrating into the cardiac outflow tract?'''
 +
 
 +
Tetralogy of Fallot
 +
 
 +
 
 +
== Lab Seven==
 +
 
 +
'''Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy?'''
 +
 
 +
a) yes
 +
 
 +
b)  they contribute but are not 'necessary'
 +
 
 +
'''Why does chronic low frequency stimulation cause a fast to slow fibre type shift? '''
 +
 
 +
After chronic low-frequency stimulation, cellular destruction and regeneration are noticed. There is also evidence of satellite cell recruitment and differentiation from fast to slow fibre types. Long term stimulation creates cells of a lower calibre with an increase aerobic capacity so that they are more resistant to fatigue. they demonstrate a decrease in relaxation time. These changes are associated with changes in the calcium regulation proteins that control the process of excitation, contraction and relaxation. The fibre shift is a form of conditioning and protective so that the fibres are not damaged. They adapt to suit the conditions that they are exposed to.
 +
 
 +
'''Trisomy 21 assessment'''
 +
 
 +
* Although it is nice that the 'nondisjunction' definition is linked to a medical dictionary, it was confusing having to scroll down to find it. It would have been easier if the link was to a page that only had the nondisjunction definition on it.
 +
* The introduction is very vague and does not indicate much as to what the project is about. It gives one historical reference, a definition that seems out of place and a few extra links to other genetic conditions. It would have been better to have a little more information on the actual condition rather than a definition, a few statistics and a date. Also, while the image does represent the cause of the problem, I believe it would be much more effective to have an image of a child with Trisomy 21 so that the reader is able to gauge the severity of the condition. Genetic details will (hopefully) be discussed later and this image will fit in later.
 +
* "recent finsings" would be better placed at the end of the project. It is difficult to understand their significance without understanding the topic
 +
* No historical findings are noted (other than the one date in the introduction). This should be elaborated on.
 +
* In the kayrotypes section, there should be an image of the normal set of chromosomes so that the reader can see the difference between that and the trisomy karyotype
 +
* It would also be interesting to note HOW trisomy 21 develops.
 +
* The list of congenital abnormalities could be expanded on to say why they are associated with trisomy 21.
 +
* The image in the congenital abnormalities section is not at all useful. Also, the list does not explain what the actual problems are and their significance.
 +
* [[Human idiogram-chromosome 21.jpg]] is not referenced
 +
* Heart defects need to be explained- what are they?
 +
* Limb abnormalities = interesting with a useful image
 +
* prevalence should be earlier in the project and Australia should be included in these statistics
 +
* The Image of Down is out of place, it has no significance here and is halfway between two sections
 +
* terms should be put in a glossary at the end (which is non existent)
 +
* the Aneuploidy section could be removed, and these terms put into a glossary instead
 +
* Meiosis I and Meiosis II is not a suitable heading as it does not actually explain how meiosis occurs. This information needs to be included and would be better at the top of the project
 +
* Overall, most of the information is present, it just needs to be rearranged into the right order.
 +
 
 +
==Lab 10==
 +
 
 +
'''Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss.'''
 +
 
 +
Radiation
 +
 
 +
''' Identify 3 factors that contribute to poor neonatal drainage of the middle ear.'''
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The eustachian tube in a neonate is almost horizontal. This impedes draining of the middle ear and can lead to infection. In addition to this, the tube is shorter, narrower and only has one muscle to control its movements.
 +
 
 +
''' Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)'''
 +
CHROMOSOME 1q21.1 DELETION SYNDROME, 200-K [[http://omim.org/entry/274000 OMIM record for Chromosome 1q21.1 deletion syndrome]]
 +
 
 +
==Lab 11==
 +
 
 +
'''Name the components that give rise to the interatrial septum and the passages that connect the right and left atria.'''
 +
 
 +
The right and left halves of the atrium are divided by the ''septum primum,'' a membranous tissue that is derived from the roof of the atria. The muscular ''septum secundum'' grows to the right of the septum primum in the 5th and 6th weeks. The septum secundum does not completely partition the right and left atria, leaving the ''foramen ovale.''
 +
 
 +
'''Identify the cardiac defects that arise through abnormal development of the outflow tract.'''
 +
 
 +
Tetralogy of Fallot
 +
 
 +
Right/Left ventricular outflow tract obstruction
 +
 
 +
Truncus Arteriosus
 +
 
 +
Conus Arteriosus
 +
 
 +
Hypoplastic left heart
 +
 
 +
Transposition of the great vessels
 +
 
 +
==Lab 12==
 +
 
 +
'''Give examples of 3 systems that continue to develop postnatally'''
 +
 
 +
* Respiratory
 +
* Immune
 +
* Neural
 +
* Cardiovascular
 +
* Gastrointestinal
 +
 
 +
'''Identify the abnormalities detected by the Guthrie Test and link to one abnormality listed in OMIM'''
 +
 
 +
* Phenylketonuria (PKU)
 +
* Biotinidase Deficiency  [[http://omim.org/entry/253260| OMIM entry]]
 +
* Congenital Adrenal Hyperplasia (CAH)
 +
* Congenital Hypothyroidism (CH)
 +
* Congenital Toxoplasmosis
 +
* Cystic Fibrosis (CF)
 +
* Galactosemia (GAL)
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* Homocystinuria
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* Maple Syrup Urine Disease (MSUD)
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* Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
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* Toxoplasma gondii IgM antibodies
 +
 
 +
==group project==
 +
 
 +
 
 +
* '''Angelo DiGeorge'''. In the mid 1960's, Angelo DiGeorge noticed a similar combination of clinical features in some children. He named the syndrom after himself. The symptoms that he recognised were hypoparathyroidism, underdeveloped thymus, conotruncal heart defects and a cleft lip/palate. <ref>http://www.chw.org/display/PPF/DocID/23047/router.asp</ref>
 +
 
 +
* '''Robert Shprintzen''' described patients with similar symptoms (cleft lip, heart defects, absent or underdeveloped thymus, hypocalcemia) and named the group of symptoms as velo-cardio-facial syndrome. <ref>http://digital.library.pitt.edu/c/cleftpalate/pdf/e20986v15n1.11.pdf</ref>
 +
 
 +
* '''Lischner and Huff''' determined that there was a deficiency in T cells was present in 10-20% of the normal thymic tissue of DiGeorge syndrome patients (1975). <ref><pubmed>1096976</pubmed></ref>
 +
 
 +
* ‘’’Cleveland’’’ determined that a thymus transplant in patients of DiGeorge was able to restore immunlogical function  (1975). <ref><pubmed>1148386</pubmed></ref>
 +
 
 +
* '''Finley''' and others identified that the cardiac failure of infants suffering from DiGeorge could be related to abnormal development of structures derived from the pouches of the 3rd and 4th pouches in the pharangeal arches. <ref><pubmed>4854619</pubmed></ref>
 +
 
 +
* '''1980s''' technology develops to identify that these patients have part of a chromosome missing. <ref>http://www.chw.org/display/PPF/DocID/23047/router.asp</ref>
 +
 
 +
* '’’De La Chapelle’’’ suspects that a chromosome deletion in 22q11 is responsible for diGeorge syndrome (1981) <ref><pubmed>7250965</pubmed></ref>
 +
 
 +
* ’’'Ammann'’’ suspects that DiGeorge symdrome may be caused by alcoholism in the mother during pregnancy. There appears to be abnormalities between the two conditions such as facial features, cardiovascular, immune and neural symptoms (1982). <ref><pubmed>6812410</pubmed></ref>
 +
 
 +
 
 +
== Peer Assessment==
 +
 
 +
Group 1
 +
* first glance of your project it appears that there is a lack of consistency with the image/text ratio. There are areas with lots of images and areas where there is a bulk of text with no images. It would be better if you spread the images out evenly between the sections rather than clumping them all together.
 +
*The epidemiology is very word heavy. There are a number of terms in there that I think would benefit from having a link to the glossary. By the end of the section I was left feeling a little overwhelmed.
 +
* The etiology section is good. Links to the glossary are very helful.
 +
* The clinical manifestations is ultimately just a list. There are no images and nothing exciting about this- I was almost inclined to skip over it because it did not draw my attention. This is the perfect place to have interesting images and yet there is none. This section needs to be reformatted.
 +
* The diagnostic material was easily accessible and interesting.
 +
* As a whole, the information you need is all there, you just need to reformat your page so that it is more appealing and more easily accessed by the audience.
 +
 
 +
 
 +
Group 3
 +
* The first thing I noticed is that the project is very text heavy. Also- there are 4 images of mitosis. Is this really necessary? One is enough and you can use the other spaces to put other images in
 +
* The introduction gives a nice, broad overview of the project. I understand immediately what is going to be said. But is there not an image of a patient to put here to draw the reader in? Maybe its just me that isn’t very excited about images of mitosis sorry.
 +
* The history section would work better as a list of dates and names rather than a bulk of text
 +
* Has there been no research since the 1970s? More recent findings need to be added to the history
 +
* The epidemiology is very interesting- but there is a lot of clinical manifestations here that are described later. There is a double up in information.
 +
* Signs and symptoms works well in a table- but more images of the condition would make it even better
 +
* The comparison of other conditions is excellent! Great idea.
 +
* Your information is there is just needs to be organised a little better and the fact that you have double ups on information and pictures indicates that there may not be any communication in the team- either that or laziness to find a different picture. Look forward to seeing your final project!
 +
 
 +
 
 +
Group 4
 +
* On first looking at the project it looks like there is a good text/image ratio. However an image in the introduction would work well
 +
* The content of the introduction is very clear and introduces the reader to the topic well
 +
* I really like the history section. The story makes me a little excited about the condition in a way. I am left feeling keen to know more and there is an extensive list of discoveries. There needs to be more after 2002 though. I find it difficult to believe that nothing has been found in the last 9 years.
 +
* The epidemiology table is a nice way of showing the data. But maybe you should put the Australian states in bold and at the top- also maybe include all of the states or Australia as a whole, not just NSW and TAS
 +
* There is a file in the pathogenesis that is not accessible- either get the file up or remove the link
 +
* The image in the pathogenesis has no copyright information
 +
* A couple of grammar problems in the pathogenesis that could be fixed up- full stops mid sentence for example
 +
* The clinical manifestations sections outlines the types of classes of manifestations but it is difficult to actually access the information on what the manifestations are. It would work well in a table with a little more detail on what the patient experiences
 +
* The video is put as a new subheading within diagnosis. It needs to be made into the smaller subheading because I thought diagnosis section was over but it continues underneath
 +
* The diagnosis section is in great detail, somewhat more detail than other sections. This is very interesting and shows that this team member worked hard on their section.
 +
* Good work on the project, just a little editing and formatting to make it a finished product!
 +
 
 +
 
 +
Group 5
 +
* Straight into it hey- a little bit more of an “introduction” might help sorry. The first line kind of scared me. Yes it is relevant information but I think you need to almost ‘warm the reader up’ if you know what I mean. When reading anything I don’t think jumping straight into the nuts and bolts of how it works benefits anyone. I think you should start with what it is and why it is important that the reader learns about your topic
 +
* The history section is brief and I don’t actually understand the relevance of the discoveries. While putting the information in a table shows that you know how to format it to look pretty, it is not the most effective way of showing
 +
* Your hand drawn images still need to be referenced and copyright put on them
 +
* Reading through I am overwhelmed by the content. This may be due to a lack of proper introduction or early explanation. I feel like the information isn’t as accessible as it could be
 +
* Development of the disease would work well in a table I think
 +
* Maybe put the clinical manifestations into dot points? I just feel like everything is a bulk of text and it would be better if you broke it up a little
 +
* An image in diagnosis would help
 +
* Treatment works well in a table
 +
* Glossary could be extended
 +
* You are on the right tract it is just a very heavy project. The content is all there but I found it really hard to get through.
 +
 
 +
Group 6-
 +
* No way near enough images. As I scrolled through there was HEAPS of text and only a few images, all of which are on the right hand side. It would be better if they were scattered around
 +
* An image in the introduction would be helpful
 +
* What are ‘tet spells’? mentioned in the introduction (described later but when seen in the introduction it looks like a typo)
 +
* History would work better as a list of dates rather than paragraphs. I do like the section at the top with the quote though
 +
* Epidemiology needs an image- perhaps a table or a graph.
 +
* Signs and symptoms could do with another image to visualise the clinical manifestations
 +
* I really liked the audio clips but the first one didn’t work on my computer? I couldn’t hear anything. Not sure if it was just me
 +
* I think you can come up with a better way of formatting the genetics section. Maybe a table? The information is good it just looks a bit funny
 +
* The pathogenesis doesn’t actually say HOW is happens in infants. Is this a condition formed during embryonic development or after?
 +
* The diagnosis section is far from complete. This needs to be corrected
 +
* Diagnosis section is also not referenced properly
 +
* Why is there a reference at the bottom of the diagnosis section?
 +
* As funny as this was: ‘Want to learn about more surgery and treatment methods? Check here!’…. maybe not appropriate sorry. It should be a little more formal. If you want the reader’s attention- try colour.
 +
* Prognosis- image needed please. Maybe a graph?
 +
* The glossary also needs to be extended
 +
* The references need to be tidied up- there are also not many?
 +
* You need to reference your images properly. ‘normal fetal blood flow and tetralogy of fallot’ is an example. You have but the copyright but not the reference. The web address is not a reference
 +
* You are clearly on your way with the project but more work is required. You need to FINISH the content and format it a little better with more images.
 +
 
 +
 
 +
Group 7-
 +
* Very text heavy!
 +
* The introduction would benefit from an image
 +
* You can probably put all of the history into the table. Having text then summarised in a table is a bit redundant
 +
* Epidemiology is a little bland sorry. Table? Graph? Image? There is also not that much information there. And only including western Australia? I think you could find data for Australia as a whole
 +
* There is A LOT of text in pathogenesis. It is good but could be improved by breaking it up a bit. Maybe bullet points?
 +
* Animal models should be a new subheading
 +
* ‘pathophysiology’ subheading is not needed. The information in it could be included in pathogenesis
 +
‘Adapted from Smith JC, et al. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003;40:87-95
 +
Adapted from Williams CA, et al Angelman syndrome: consensus for diagnostic criteria. J Med Genet 1995;56:237–8’
 +
doesn’t need to be here. Just reference it normally. If this is your student drawn image I’m not sure it is enough. Making a table isn’t an “image”.
 +
* Other than that I like the signs and symptoms section. Although I believe that the table is a little out of place
 +
* Diagnosis section could be better formatted
 +
* Differential diagnosis and related diseases would work well together under one subheading
 +
* Referencing such as under the table in treatment is wrong. It isn’t done like this. You format it like everything else you reference. There is no place for the actual reference in the text. There should be a link for the reference in the reference section
 +
* What is the genetic counselling section? It makes no sense and needs to be explained.
 +
* Your project has obviously made progress but you need to look over it and make sure that things are formatted so that they are easily accessed, referenced properly and everything is in the right order.
 +
 
 +
 
 +
Group 8
 +
* Glossary under the references? This needs to be moved up so people can actually find it
 +
* Good introduction. Gives the background and information that is needed
 +
* History is very short. I believe there is more research after 1996 and what you have supplied is very limited
 +
* Epidemiology is great. I like how you divided it up in sections! Easy to read and gauge the spectrum of the condition
 +
* ‘(For further detail on the mechanisms of replication slippage, see Viguera et al (2001)’ This is not necessary
 +
* etiology is very detailed! Maybe think of ways to break up the text for the reader. The subheadings are great but there is just A LOT to get through
 +
* the diagnosis is great
 +
* postnatal diagnosis- I don’t really understand why you need the table here
 +
* treatment could do with an image. Other than that its really good information
 +
* current research should not be a list. It should shed light on what is to come and the significance of current research- not just a list of papers published recently
 +
 
 +
 
 +
Group 9-
 +
* Glossary is incomplete
 +
* There are very few images on the page to break up the text
 +
* Introduction needs an image. Other than that the information is good
 +
* History- not sure if you need the text AND the list of dates. Maybe you could combine it all into one
 +
* Genetic factors and etiology- really good. Easy to understand and visually appealing
 +
* Diagnosis is also easy to take in
 +
* Epidemiology should be up the top before diagnosis
 +
* Also you need to sort out your subheadings. Management and treatment are not part of epidemiology
 +
* More information is needed on the actually epidemiology
 +
* Phenotype should come before treatment so we know why the treatments are necessary
 +
* Also- cardiac, endocrine and genitourinary conditions are part of the phenotype. Maybe consider including these in the table
 +
* The whole phenotype section is confusing sorry. It is ALL phenotype but you have put it in different sections. Not really sure why you have done this. It needs to be formatted better.
 +
* The information is all there it just isn’t organised properly
 +
* Do you need this? ‘Specialised Facilities and Supportive Associations
 +
* You have done a great job of researching and the information is all there its just really confusing sorry. You need to find a way of organizing it so that it is more accessible to the reader.
 +
 
 +
 
 +
Group 10-
 +
* Need more images to break up the text
 +
* The introduction was really easy to read and had relevant information in it
 +
* History should be in bullet point form to make it easier to access or at least have the dates in BOLD
 +
* Does the history include dates after the 1800s? or did all research stop then?
 +
* Epidemiology was good. Had all the relevant info
 +
* Pathogenesis would benefit an image or a diagram
 +
* Signs and symptoms could be put with clinical manifestations.
 +
* What is the point of the ‘&&&’? in clinical manifestations and complications?
 +
* Diagnosis could be expanded upon to explain how and why these methods work
 +
* Treatment could also be expanded on. A list of drugs doesn’t explain much
 +
* There is not current/future research section
 +
* This is a good start to the project but more research needs to be done
 +
 
 +
 
 +
Group 11
 +
* The introduction is no where near long enough and needs an image
 +
* History needs to be expanded and dates made more obvious to the reader
 +
* Timeline- should be combined with history. So that my previous point is not needed
 +
* The order of your subheadings is a little confusing
 +
* Some sections double up the information
 +
* Current research needs to be completed, as do other sections
 +
* The glossary needs to be expanded
 +
* The project has started to take form but there is work to go to complete the information and format it into a more easily accessible piece of work.
  
 
==Reference List==
 
==Reference List==
 
<references/>
 
<references/>

Latest revision as of 08:59, 25 October 2011


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

--Z3288729 12:16, 28 July 2011 (EST)

--z3288729 11:12, 4 August 2011 (EST)

--Sarah Jenkins 11:10, 18 August 2011 (EST)

--Sarah Jenkins 11:11, 25 August 2011 (EST)

--Sarah Jenkins 12:28, 1 September 2011 (EST)

--Sarah Jenkins 11:31, 15 September 2011 (EST)

--Sarah Jenkins 11:45, 22 September 2011 (EST)

--Sarah Jenkins 11:00, 29 September 2011 (EST)

--Sarah Jenkins 11:00, 9 October 2011 (EST) (I forgot to log on in class on the 6th of October sorry)

--Sarah Jenkins 12:05, 13 October 2011 (EST)

--Sarah Jenkins 11:29, 20 October 2011 (EST)

Lab One

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

In vitro fertilisation began in 1978 when Edwards RG successfully carried out the process. He won the nobel prize for his work in 2010.

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

Actin, more than just a housekeeping protein at the scene of fertilization.

This research project looked into the role of actin in fertilisation. It was found that it is an important molecule, significant in modulation of fertilisation. The rearrangement of the actin cytoskeleton of a fertilised egg plays a role in allowing only one sperm to enter the cell. [1]


Identify 2 congenital anomalies.

Ectrodactyly- a lack of one or more digits of the hand or foot

Spina Bifida- incomplete closing of the embryonic neural tube

Lab Two

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

zona pellucida glycoprotein 3 (ZP3) acts as a sperm receptor. [2]. ZP3 surrounds the oocyte, and the sperm binds to it as a way to enter the cell. Once a sperm has entered the oocyte, mechanisms to prevent polyspermy are put in place. The IP3 pathway is activated and in increase in intraceellular calcium results in alteration of ZP3 to prevent any more sperm entering the oocyte.


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 Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications.

Primary Detection of duchenne/becker muscular dystrophy carriers in a group of Iranian families by linkage analysis.

Lab Three

What is the maternal dietary requirement for late neural development?

Folate is an important dietary requirement to prevent neural tube defects [[1]]. Another is iodine, in order to prevent neurological cretinism following maternal hypothyroidism [[2]].

Upload a picture relating to you group project.

DiGeorge T cell receptor Diversity post thymus transplant.jpg


--Mark Hill 12:20, 16 August 2011 (EST) Good image and the information included is correct. I don't really like the image name as it does not indicate what the image is about. Looking at the original figure legend is also not as helpful, perhaps modified from the paper title "T-cell receptor diversity with thymus transplantation for DiGeorge anomaly" or along those lines.


Lab Four

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

The allantois is a membranous sac that is continuous with the splanchnic mesoderm and the embryonic gastrointestinal tract.

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

  • Ductus arteriosus- It attaches the pumonary artery to the aortic arch so that blood bypasses the lungs.
  • Ductus venosus - shunts half of the arterial blood flow from the umbilical cord so that it is able to bypass the liver
  • Foramen ovale- shunts oxygenated blood from the right atrium to left atrium so bypass the ventricles.

Identify the group project subsection you will be researching

  • Introduction
  • Historical background
  • Diagnosis

Lab Five

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

Diaphragmatic heriation occurs most commonly on the left side [3]. Herniation occurs when there is abnormal closure of the pleuroperitoneal folds. These folds close to separate the lungs from the gut. The right side often closes first, and as such leaves it more likely for gastrointestinal structures to move up before the membrane is fused closed.

Lab Six

What week of development do the palatal shelves fuse?

Week 9

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

Chick-Quail Chimeras

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

Tetralogy of Fallot


Lab Seven

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

a) yes

b) they contribute but are not 'necessary'

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

After chronic low-frequency stimulation, cellular destruction and regeneration are noticed. There is also evidence of satellite cell recruitment and differentiation from fast to slow fibre types. Long term stimulation creates cells of a lower calibre with an increase aerobic capacity so that they are more resistant to fatigue. they demonstrate a decrease in relaxation time. These changes are associated with changes in the calcium regulation proteins that control the process of excitation, contraction and relaxation. The fibre shift is a form of conditioning and protective so that the fibres are not damaged. They adapt to suit the conditions that they are exposed to.

Trisomy 21 assessment

  • Although it is nice that the 'nondisjunction' definition is linked to a medical dictionary, it was confusing having to scroll down to find it. It would have been easier if the link was to a page that only had the nondisjunction definition on it.
  • The introduction is very vague and does not indicate much as to what the project is about. It gives one historical reference, a definition that seems out of place and a few extra links to other genetic conditions. It would have been better to have a little more information on the actual condition rather than a definition, a few statistics and a date. Also, while the image does represent the cause of the problem, I believe it would be much more effective to have an image of a child with Trisomy 21 so that the reader is able to gauge the severity of the condition. Genetic details will (hopefully) be discussed later and this image will fit in later.
  • "recent finsings" would be better placed at the end of the project. It is difficult to understand their significance without understanding the topic
  • No historical findings are noted (other than the one date in the introduction). This should be elaborated on.
  • In the kayrotypes section, there should be an image of the normal set of chromosomes so that the reader can see the difference between that and the trisomy karyotype
  • It would also be interesting to note HOW trisomy 21 develops.
  • The list of congenital abnormalities could be expanded on to say why they are associated with trisomy 21.
  • The image in the congenital abnormalities section is not at all useful. Also, the list does not explain what the actual problems are and their significance.
  • Human idiogram-chromosome 21.jpg is not referenced
  • Heart defects need to be explained- what are they?
  • Limb abnormalities = interesting with a useful image
  • prevalence should be earlier in the project and Australia should be included in these statistics
  • The Image of Down is out of place, it has no significance here and is halfway between two sections
  • terms should be put in a glossary at the end (which is non existent)
  • the Aneuploidy section could be removed, and these terms put into a glossary instead
  • Meiosis I and Meiosis II is not a suitable heading as it does not actually explain how meiosis occurs. This information needs to be included and would be better at the top of the project
  • Overall, most of the information is present, it just needs to be rearranged into the right order.

Lab 10

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

Radiation

Identify 3 factors that contribute to poor neonatal drainage of the middle ear. The eustachian tube in a neonate is almost horizontal. This impedes draining of the middle ear and can lead to infection. In addition to this, the tube is shorter, narrower and only has one muscle to control its movements.

Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students) CHROMOSOME 1q21.1 DELETION SYNDROME, 200-K [OMIM record for Chromosome 1q21.1 deletion syndrome]

Lab 11

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

The right and left halves of the atrium are divided by the septum primum, a membranous tissue that is derived from the roof of the atria. The muscular septum secundum grows to the right of the septum primum in the 5th and 6th weeks. The septum secundum does not completely partition the right and left atria, leaving the foramen ovale.

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

Tetralogy of Fallot

Right/Left ventricular outflow tract obstruction

Truncus Arteriosus

Conus Arteriosus

Hypoplastic left heart

Transposition of the great vessels

Lab 12

Give examples of 3 systems that continue to develop postnatally

  • Respiratory
  • Immune
  • Neural
  • Cardiovascular
  • Gastrointestinal

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

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

group project

  • Angelo DiGeorge. In the mid 1960's, Angelo DiGeorge noticed a similar combination of clinical features in some children. He named the syndrom after himself. The symptoms that he recognised were hypoparathyroidism, underdeveloped thymus, conotruncal heart defects and a cleft lip/palate. [4]
  • Robert Shprintzen described patients with similar symptoms (cleft lip, heart defects, absent or underdeveloped thymus, hypocalcemia) and named the group of symptoms as velo-cardio-facial syndrome. [5]
  • Lischner and Huff determined that there was a deficiency in T cells was present in 10-20% of the normal thymic tissue of DiGeorge syndrome patients (1975). [6]
  • ‘’’Cleveland’’’ determined that a thymus transplant in patients of DiGeorge was able to restore immunlogical function (1975). [7]
  • Finley and others identified that the cardiac failure of infants suffering from DiGeorge could be related to abnormal development of structures derived from the pouches of the 3rd and 4th pouches in the pharangeal arches. [8]
  • 1980s technology develops to identify that these patients have part of a chromosome missing. [9]
  • '’’De La Chapelle’’’ suspects that a chromosome deletion in 22q11 is responsible for diGeorge syndrome (1981) [10]
  • ’’'Ammann'’’ suspects that DiGeorge symdrome may be caused by alcoholism in the mother during pregnancy. There appears to be abnormalities between the two conditions such as facial features, cardiovascular, immune and neural symptoms (1982). [11]


Peer Assessment

Group 1

  • first glance of your project it appears that there is a lack of consistency with the image/text ratio. There are areas with lots of images and areas where there is a bulk of text with no images. It would be better if you spread the images out evenly between the sections rather than clumping them all together.
  • The epidemiology is very word heavy. There are a number of terms in there that I think would benefit from having a link to the glossary. By the end of the section I was left feeling a little overwhelmed.
  • The etiology section is good. Links to the glossary are very helful.
  • The clinical manifestations is ultimately just a list. There are no images and nothing exciting about this- I was almost inclined to skip over it because it did not draw my attention. This is the perfect place to have interesting images and yet there is none. This section needs to be reformatted.
  • The diagnostic material was easily accessible and interesting.
  • As a whole, the information you need is all there, you just need to reformat your page so that it is more appealing and more easily accessed by the audience.


Group 3

  • The first thing I noticed is that the project is very text heavy. Also- there are 4 images of mitosis. Is this really necessary? One is enough and you can use the other spaces to put other images in
  • The introduction gives a nice, broad overview of the project. I understand immediately what is going to be said. But is there not an image of a patient to put here to draw the reader in? Maybe its just me that isn’t very excited about images of mitosis sorry.
  • The history section would work better as a list of dates and names rather than a bulk of text
  • Has there been no research since the 1970s? More recent findings need to be added to the history
  • The epidemiology is very interesting- but there is a lot of clinical manifestations here that are described later. There is a double up in information.
  • Signs and symptoms works well in a table- but more images of the condition would make it even better
  • The comparison of other conditions is excellent! Great idea.
  • Your information is there is just needs to be organised a little better and the fact that you have double ups on information and pictures indicates that there may not be any communication in the team- either that or laziness to find a different picture. Look forward to seeing your final project!


Group 4

  • On first looking at the project it looks like there is a good text/image ratio. However an image in the introduction would work well
  • The content of the introduction is very clear and introduces the reader to the topic well
  • I really like the history section. The story makes me a little excited about the condition in a way. I am left feeling keen to know more and there is an extensive list of discoveries. There needs to be more after 2002 though. I find it difficult to believe that nothing has been found in the last 9 years.
  • The epidemiology table is a nice way of showing the data. But maybe you should put the Australian states in bold and at the top- also maybe include all of the states or Australia as a whole, not just NSW and TAS
  • There is a file in the pathogenesis that is not accessible- either get the file up or remove the link
  • The image in the pathogenesis has no copyright information
  • A couple of grammar problems in the pathogenesis that could be fixed up- full stops mid sentence for example
  • The clinical manifestations sections outlines the types of classes of manifestations but it is difficult to actually access the information on what the manifestations are. It would work well in a table with a little more detail on what the patient experiences
  • The video is put as a new subheading within diagnosis. It needs to be made into the smaller subheading because I thought diagnosis section was over but it continues underneath
  • The diagnosis section is in great detail, somewhat more detail than other sections. This is very interesting and shows that this team member worked hard on their section.
  • Good work on the project, just a little editing and formatting to make it a finished product!


Group 5

  • Straight into it hey- a little bit more of an “introduction” might help sorry. The first line kind of scared me. Yes it is relevant information but I think you need to almost ‘warm the reader up’ if you know what I mean. When reading anything I don’t think jumping straight into the nuts and bolts of how it works benefits anyone. I think you should start with what it is and why it is important that the reader learns about your topic
  • The history section is brief and I don’t actually understand the relevance of the discoveries. While putting the information in a table shows that you know how to format it to look pretty, it is not the most effective way of showing
  • Your hand drawn images still need to be referenced and copyright put on them
  • Reading through I am overwhelmed by the content. This may be due to a lack of proper introduction or early explanation. I feel like the information isn’t as accessible as it could be
  • Development of the disease would work well in a table I think
  • Maybe put the clinical manifestations into dot points? I just feel like everything is a bulk of text and it would be better if you broke it up a little
  • An image in diagnosis would help
  • Treatment works well in a table
  • Glossary could be extended
  • You are on the right tract it is just a very heavy project. The content is all there but I found it really hard to get through.

Group 6-

  • No way near enough images. As I scrolled through there was HEAPS of text and only a few images, all of which are on the right hand side. It would be better if they were scattered around
  • An image in the introduction would be helpful
  • What are ‘tet spells’? mentioned in the introduction (described later but when seen in the introduction it looks like a typo)
  • History would work better as a list of dates rather than paragraphs. I do like the section at the top with the quote though
  • Epidemiology needs an image- perhaps a table or a graph.
  • Signs and symptoms could do with another image to visualise the clinical manifestations
  • I really liked the audio clips but the first one didn’t work on my computer? I couldn’t hear anything. Not sure if it was just me
  • I think you can come up with a better way of formatting the genetics section. Maybe a table? The information is good it just looks a bit funny
  • The pathogenesis doesn’t actually say HOW is happens in infants. Is this a condition formed during embryonic development or after?
  • The diagnosis section is far from complete. This needs to be corrected
  • Diagnosis section is also not referenced properly
  • Why is there a reference at the bottom of the diagnosis section?
  • As funny as this was: ‘Want to learn about more surgery and treatment methods? Check here!’…. maybe not appropriate sorry. It should be a little more formal. If you want the reader’s attention- try colour.
  • Prognosis- image needed please. Maybe a graph?
  • The glossary also needs to be extended
  • The references need to be tidied up- there are also not many?
  • You need to reference your images properly. ‘normal fetal blood flow and tetralogy of fallot’ is an example. You have but the copyright but not the reference. The web address is not a reference
  • You are clearly on your way with the project but more work is required. You need to FINISH the content and format it a little better with more images.


Group 7-

  • Very text heavy!
  • The introduction would benefit from an image
  • You can probably put all of the history into the table. Having text then summarised in a table is a bit redundant
  • Epidemiology is a little bland sorry. Table? Graph? Image? There is also not that much information there. And only including western Australia? I think you could find data for Australia as a whole
  • There is A LOT of text in pathogenesis. It is good but could be improved by breaking it up a bit. Maybe bullet points?
  • Animal models should be a new subheading
  • ‘pathophysiology’ subheading is not needed. The information in it could be included in pathogenesis

‘Adapted from Smith JC, et al. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003;40:87-95 Adapted from Williams CA, et al Angelman syndrome: consensus for diagnostic criteria. J Med Genet 1995;56:237–8’ doesn’t need to be here. Just reference it normally. If this is your student drawn image I’m not sure it is enough. Making a table isn’t an “image”.

  • Other than that I like the signs and symptoms section. Although I believe that the table is a little out of place
  • Diagnosis section could be better formatted
  • Differential diagnosis and related diseases would work well together under one subheading
  • Referencing such as under the table in treatment is wrong. It isn’t done like this. You format it like everything else you reference. There is no place for the actual reference in the text. There should be a link for the reference in the reference section
  • What is the genetic counselling section? It makes no sense and needs to be explained.
  • Your project has obviously made progress but you need to look over it and make sure that things are formatted so that they are easily accessed, referenced properly and everything is in the right order.


Group 8

  • Glossary under the references? This needs to be moved up so people can actually find it
  • Good introduction. Gives the background and information that is needed
  • History is very short. I believe there is more research after 1996 and what you have supplied is very limited
  • Epidemiology is great. I like how you divided it up in sections! Easy to read and gauge the spectrum of the condition
  • ‘(For further detail on the mechanisms of replication slippage, see Viguera et al (2001)’ This is not necessary
  • etiology is very detailed! Maybe think of ways to break up the text for the reader. The subheadings are great but there is just A LOT to get through
  • the diagnosis is great
  • postnatal diagnosis- I don’t really understand why you need the table here
  • treatment could do with an image. Other than that its really good information
  • current research should not be a list. It should shed light on what is to come and the significance of current research- not just a list of papers published recently


Group 9-

  • Glossary is incomplete
  • There are very few images on the page to break up the text
  • Introduction needs an image. Other than that the information is good
  • History- not sure if you need the text AND the list of dates. Maybe you could combine it all into one
  • Genetic factors and etiology- really good. Easy to understand and visually appealing
  • Diagnosis is also easy to take in
  • Epidemiology should be up the top before diagnosis
  • Also you need to sort out your subheadings. Management and treatment are not part of epidemiology
  • More information is needed on the actually epidemiology
  • Phenotype should come before treatment so we know why the treatments are necessary
  • Also- cardiac, endocrine and genitourinary conditions are part of the phenotype. Maybe consider including these in the table
  • The whole phenotype section is confusing sorry. It is ALL phenotype but you have put it in different sections. Not really sure why you have done this. It needs to be formatted better.
  • The information is all there it just isn’t organised properly
  • Do you need this? ‘Specialised Facilities and Supportive Associations
  • You have done a great job of researching and the information is all there its just really confusing sorry. You need to find a way of organizing it so that it is more accessible to the reader.


Group 10-

  • Need more images to break up the text
  • The introduction was really easy to read and had relevant information in it
  • History should be in bullet point form to make it easier to access or at least have the dates in BOLD
  • Does the history include dates after the 1800s? or did all research stop then?
  • Epidemiology was good. Had all the relevant info
  • Pathogenesis would benefit an image or a diagram
  • Signs and symptoms could be put with clinical manifestations.
  • What is the point of the ‘&&&’? in clinical manifestations and complications?
  • Diagnosis could be expanded upon to explain how and why these methods work
  • Treatment could also be expanded on. A list of drugs doesn’t explain much
  • There is not current/future research section
  • This is a good start to the project but more research needs to be done


Group 11

  • The introduction is no where near long enough and needs an image
  • History needs to be expanded and dates made more obvious to the reader
  • Timeline- should be combined with history. So that my previous point is not needed
  • The order of your subheadings is a little confusing
  • Some sections double up the information
  • Current research needs to be completed, as do other sections
  • The glossary needs to be expanded
  • The project has started to take form but there is work to go to complete the information and format it into a more easily accessible piece of work.

Reference List