Difference between revisions of "User:Z3290379"

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--[[User:Z3290379|Elizabeth Blanchard]] 11:11, 6 October 2011 (EST)
 
--[[User:Z3290379|Elizabeth Blanchard]] 11:11, 6 October 2011 (EST)
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--[[User:Z3290379|Elizabeth Blanchard]] 12:06, 13 October 2011 (EST)
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--[[User:Z3290379|Elizabeth Blanchard]] 12:04, 20 October 2011 (EST)
  
 
==Individual Assessments==
 
==Individual Assessments==
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*I also can’t seem to find your student drawing
 
*I also can’t seem to find your student drawing
 
*Some sections repeat some information- go through this
 
*Some sections repeat some information- go through this
 +
 +
 +
===Lab 10===
 +
 +
'''Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss.'''
 +
 +
Radiation is an environmental teratogen that can lead to hearing loss.
 +
 +
'''Identify 3 factors that contribute to poor neonatal drainage of the middle ear'''
 +
 +
In neonates, the Eustachian tube has not yet fully developed and thus has features that contribute to poor drainage of the middle ear, which can lead to infections. These include the length of the tube, which is much shorter than those in adults, the angle of the tube, which is almost horizontal – thus inhibiting proper drainage and in addition, only one muscle controls it’s movement.
 +
 +
'''Identify 1 genetic abnormality that affects hearing development and link to the OMIM record. (Your individual abnormality should be different from all other students)'''
 +
 +
Tietz albinism-deafness syndrome - due to a mutation on 3p14-p13 on the MITF gene. [http://omim.org/entry/103500?search=congenital%20hearing%20loss&highlight=congenital%20loss%20hearing Tietz 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 atrium are separated by a membranous tissue that is derived from the roof of atria called the septum primum. During the 5th-6th week of development, septum secundum is derived from septum primum to allow blood to flow from the right to the left atrium. The septum secundum does not completely completely partition between the left and right atria, giving rise to the foramen ovale.
 +
 +
''' Identify the cardiac defects that arise through abnormal development of the outflow tract. '''
 +
 +
Right-left ventricular outflow tract obstruction
 +
 +
Truncus and Conus Arteriosus
 +
 +
Tetralogy of Fallot
 +
 +
Hypoplastic left heart
 +
 +
 +
===Lab 12===
 +
 +
'''Give examples of 3 systems that continue to develop postnatally'''
 +
 +
Immune
 +
 +
Neural
 +
 +
Cardiovascular
 +
 +
'''Identify the abnormalities detected by the Guthrie Test and link to one abnormality listed in OMIM'''
 +
 +
Immune, cardiovascular neural
 +
 +
Phenylketonuria (PKU)
 +
 +
Biotinidase Deficiency
 +
 +
Congenital Adrenal Hyperplasia (CAH)
 +
 +
Congenital Hypothyroidism (CH)
 +
 +
Congenital Toxoplasmosis
 +
 +
Cystic Fibrosis (CF)
 +
 +
Galactosemia (GAL)
 +
 +
Homocystinuria
 +
 +
Maple Syrup Urine Disease (MSUD)[http://omim.org/entry/248600 OMIM MSUD]
 +
 +
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
 +
 +
Toxoplasma gondii IgM antibodies

Latest revision as of 13:08, 27 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

--Z3290379 12:55, 28 July 2011 (EST)

--z3290379 12:53, 4 August 2011 (EST)

--z3290379 11:15, 11 August 2011 (EST)

--z3290379 11:58, 18 August 2011 (EST)

--z3290379 11:05, 25 August 2011 (EST)

--z3290379 11:59, 1 September 2011 (EST)

--Elizabeth Blanchard 12:05, 15 September 2011 (EST)

--Elizabeth Blanchard 11:54, 22 September 2011 (EST)

--Elizabeth Blanchard 11:30, 29 September 2011 (EST)

--Elizabeth Blanchard 11:11, 6 October 2011 (EST)

--Elizabeth Blanchard 12:06, 13 October 2011 (EST)

--Elizabeth Blanchard 12:04, 20 October 2011 (EST)

Individual Assessments

Lab 1

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

In Vitro Fertilization began in the UK in 1978, with Edwards RG succeeding with this process. He was awarded the Nobel Prize in Medicine in 2010 for his work.

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

Improvements in human sperm quality by long-term in vitro co-culture with isolated porcine Sertoli cells

Co-Culture of sperm and Sertoli cell feeder (CCSCF) were able to maintain normal sperm motility, viability and mitochondrial function for 7 days. This is of great importance to ART technologies for long-term culture and enabling sperm to be transferred between 2 distant centers while maintaining their potential.

Improvements in human sperm quality by long-term in vitro co-culture with isolated porcine Sertoli cells

Identify 2 congenital anomalies.


Atrial Septal Defect- lacking of the interatrial septum, enabling blood flow between the left and right atria.

Arnold-Chiari Malformation- downward displacement of the cerebellar tonsils through foramen magnum.


--Mark Hill 09:52, 3 August 2011 (EST) These answers are fine for Lab 1 assessment.

Lab 2

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

In humans, zona pellucida sperm-binding protein 3 (ZP3), is the receptor in which sperm binds to. Modifications by enzymes occur after fertilization, inactivating ZP3 thus preventing sperm to bind.

Lab 3

What is the maternal dietary requirement for late neural development?

To prevent birth defects associated with neural development (such as spina bifida), the Australian government recommends a daily intake of folate of 600µg for pregnant women. Pregnancy Requirements

Stem cells neurospheres drived from Huntingtons Disease hippocampus.png


Lab 4

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

The allantois functions to exchange materials (e.g. gases and nutrients). This invagination of the endoderm forms part of the hindgut.

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

- Ductus Arteriosus: between pulmonary artery and aortic arch

- Ductus Venosus: between umbilical vein to inferior vena cava

- Foramen Ovale: between left and right atrium

Group Project

Current and Future Research

Diagnostic Tests


Lab 5

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

The left side is the most common for a diaphragmatic hernia. These occur if the pleuroperitoneal folds (which separate lungs from the gut) fail to close properly. The right side fuses first, and therefore leaves more chance for the left side to fuse abnormally.

Lab 6

What week of development do the palatal shelves fuse?

These shelves fuse in week nine

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

The quail-chick chimera model helped to elucidate these.

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

Tetralogy of Fallot is the congenital heart defect which results from neural crest not migrating into the cardiac outflow tract


Lab 7

Are satellite cells (a) necessary for muscle hypertrophy

No- muscle lacking satellite cells can still undergo hypertrophy

(b) generally involved in hypertrophy?

Yes- they definitely contribute, however they are not essential.


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


Chronic low frequency stimulation increases the aerobic capacity of some muscle cells. A decrease in relaxation time is noticed and this enables the muscle cells to resist fatigue.


Trisomy 21 Peer Assessment

  • To begin with, the way you have arranged the order of the headings doesn’t flow very nicely
  • Although the intro is concise, it doesn’t introduce the topic as much as it could- a little more detail could help. The historical reference would also be better suited elsewhere.
  • Recent findings would be better suited towards the end of the page, and a short summary of the actual paper would be better than a direct quote.
  • Where are your historical references? (besides the one point in the introduction)
  • How does karyotyping work? This is not explained very well- expand on this.
  • Associated Congenital abnormalities would be better under one heading rather than having a separate one for each defect (i.e. heart defect, limb defect)
  • Heart defects should be explained in more detail and an image would help back this up
  • A list of signs and symptoms would fit nicely with congenital abnormalities.
  • Copyright info is missing for the John Langdon Down image- and what is its purpose here?
  • Prevalence: only Ireland and the USA are listed- this shows that not much research has been done. You need a more worldwide distribution.
  • The meiosis section is a little confusing, and does not exaplin how meiosis actually occurs- this section would also be better under ‘recent findings’
  • Growth charts are interesting
  • Your ‘terms’ list should not be placed under your references- they would be better suited above the references to make them easier to find.
  • No student drawn image here?
  • Overall, interesting information that has potential for a good project

Peer Assessments

Group 1


  • An image would nicely complement your introduction.
  • A history timeline would be nice to include
  • A few sentences should be restructured in epidemiology
  • Clinical manifestations should be explained a little or include an image to break up the text
  • Nice tables in diagnosis- although some pictures should be made a little smaller
  • The student drawn maternal serum sampling image is really good
  • Treatment would benefit a picture
  • Good research section
  • Overall, good project you just need to fix a few things


Group 2

  • The whole page is very nicely formatted
  • Introduction is clear and concise although would it be more efficient to start talking about DiGeorge straight away rather then define congenital abnormalities?
  • Historical background is obviously well researched
  • There needs to be an image in epidemiology and/or etiology to break up the text or present some of the information in a table
  • The pathogenesis section flows nicely although a few words need to be added to the glossary
  • Great table for diagnostic tests- this makes it easy to follow
  • A few more pictures would be great for clinical manifestation and maybe this would be better in dot points?
  • Student drawn images of tetralogy of fallot were excellent
  • Subheadings are needed for Current/future research
  • Good project overall, obviously a lot of effort has been put into this.


Group 3


  • I think the introduction should be a little more concise
  • History could work better if all the information was summarised in a table/timeline rather than having paragraphs then a timeline. *Also, I find it a little hard to believe that no findings have been made since the 1970s.
  • Epidemiology would probably benefit with subheadings
  • Signs and symptoms are nicely set out
  • I like that you have added a comparison of other diseases
  • Maybe add a few more researches from 2011 rather than 2010 (if possible)
  • Overall, quite a good project with some minor adjustments needed

Group 5

  • Introduction should be explained a little better and also referenced
  • Hand drawn image needs the correct referencing/copyright info
  • Good use of subheadings in epidemiology
  • Etiology is a little hard to follow
  • Development of disease needs an image to break up the text
  • Signs and symptoms is very text heavy- try to change it up a bit i.e. use of dot points
  • Good use of table in treatment
  • Glossary needs to be extended
  • Overall, this has potential to be a good project with a few adjustments

Group 6

  • My first impression is that this project is lacking images. There is way too much text in comparison to images.
  • An image would nicely complement the introduction
  • I feel that history would work better in a timeline
  • Epidemiology needs a table/graph
  • Good links in signs/symptoms although another image would be nice
  • Genetics needs to be explained a little better
  • Student drawn images were great- obviously a lot of effort has been put into these
  • Diagnostic test table needs an image and needs to be referenced properly
  • Again, an image is needed for prognosis
  • Glossary needs to be extended
  • Overall a good project but you need to fix a few things

Group 7

  • Firstly, you don’t have a very good image/text ratio
  • Introduction would grab my attention a little more with an image
  • Try combining the text that you have for history in the timeline
  • Epidemiology is not very extensive. You need to give more of a worldwide overview- also try and find information regarding Australia as a whole rather than just WA
  • Obviously a lot of research has been put into pathogenesis- although there is a lot of information presented at once, try to break this up using bullet points etc
  • Why have you included ‘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 ‘ in the text? This should be in your references
  • Differential diagnosis and related diseases should be combined
  • Genetic counselling has not been explained so makes little sense
  • Current and future research should have subheadings


Group 8

  • Good introduction
  • I find it hard to believe that you have only found 5 significant findings to put in your timeline, it should also more recent findings
  • Good epidemiology
  • There is a lot of information in etiology- although the subheadings are good try and think of a way to break up the text

(For further detail on the mechanisms of replication slippage, see Viguera et al (2001) is unnecessary

  • Postnatal diagnosis table also seems a little unnecessary
  • Treatment needs an image
  • Current research should be explained
  • Not sure why you put your glossary under your references but this should be the other way around so the reader can easily access the glossary

Group 9

  • You don’t have a very good image/text ratio. More images are needed to break up the text.
  • Good information in your introduction although you need an image
  • Maybe try and condense your history just into a timeline?
  • Genetic factors and etiology and diagnosis are good and have a nice flow
  • I think the section epidemiology should closer to the beginning of your project- also not sure why management and treatment are mentioned here.
  • Phenotypes should be organised better
  • Good table for associated medical conditions
  • A few of your headings should be reformatted
  • Specialised facilities and supportive associations seems a little unnecessary
  • Glossary is incomplete

Group 10

  • Very poor image/text ratio – you need more images to break up the text
  • Good intro
  • History would work better in a timeline- you also mention nothing after the 1800s, more recent findings need to be included
  • An image would be nice for pathogenesis to help the reader follow
  • Not sure why you have made signs and symptoms a different heading to clinical manifestation- these could be combined
  • Diagnosis is very brief and needs to be extended
  • Glossary needs to be added to
  • Maybe add a current research heading

Group 11

  • Introduction is way too short and should include an image
  • History would work better just in a timeline
  • I think you should rearrange your headings from here on to make your project flow in a logical way
  • Current/future research should be extended and explained
  • Glossary needs to be extended
  • I also can’t seem to find your student drawing
  • Some sections repeat some information- go through this


Lab 10

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

Radiation is an environmental teratogen that can lead to hearing loss.

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

In neonates, the Eustachian tube has not yet fully developed and thus has features that contribute to poor drainage of the middle ear, which can lead to infections. These include the length of the tube, which is much shorter than those in adults, the angle of the tube, which is almost horizontal – thus inhibiting proper drainage and in addition, only one muscle controls it’s movement.

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

Tietz albinism-deafness syndrome - due to a mutation on 3p14-p13 on the MITF gene. Tietz 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 atrium are separated by a membranous tissue that is derived from the roof of atria called the septum primum. During the 5th-6th week of development, septum secundum is derived from septum primum to allow blood to flow from the right to the left atrium. The septum secundum does not completely completely partition between the left and right atria, giving rise to the foramen ovale.

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

Right-left ventricular outflow tract obstruction

Truncus and Conus Arteriosus

Tetralogy of Fallot

Hypoplastic left heart


Lab 12

Give examples of 3 systems that continue to develop postnatally

Immune

Neural

Cardiovascular

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

Immune, cardiovascular neural

Phenylketonuria (PKU)

Biotinidase Deficiency

Congenital Adrenal Hyperplasia (CAH)

Congenital Hypothyroidism (CH)

Congenital Toxoplasmosis

Cystic Fibrosis (CF)

Galactosemia (GAL)

Homocystinuria

Maple Syrup Urine Disease (MSUD)OMIM MSUD

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

Toxoplasma gondii IgM antibodies