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-Z3332629 12:55, 28 July 2011 (EST) Lab 1 Assessment

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

The first In Vitro Fertilization Pre-Embryo Transfer (IVF-ET) was performed in 1978 by Dr. Edwards (an embryologist) and Dr. Steptoe in England. In 2010, Robert G. Edwards was awarded with a Nobel Prize “for the development of human in vitro fertilization (IVF) therapy”.

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

Title: Enzymatic isolation of human primordial and primary ovarian follicles with Liberase DH: protocol for application in a clinical setting Authors: Julie Vanacker M.Bio.Sc.a, Alessandra Camboni M.D., Ph.D.a, Catherine Dath M.D.a, Anne Van Langendonckt Ph.D.a, Marie-Madeleine Dolmans M.D., Ph.D.a, Jacques Donnez M.D.,h.D. a, and Christiani A. Amorim V.M.D., Ph.D.a

Key findings: - The aim or objective of the experiment was to isolate human preantral follicles with a particular enzyme (Liberase Dehydrogenase) in order to use these follicles in a clinical setting. - After the follicles were isolated, they were analysed in terms of their morphology and structural preservation. - In conclusion, it was founded that Liberase DH is an extremely useful enzyme for the isolate of human preantral follicles as it helps to maintain their viability and ultrastructure. This enzyme can be produced in good manufacturing practice conditions and hence is a great contribution to clinical applications.

3. Identify 2 congenital anomalies.

Two congenital anomalies include: - Trisomy 21 (Down Syndrome): a chromosomal abnormality caused by the event of an additional copy of chromosome 21 - Cleft palate: caused by the failure of the mouth parts to join up during early foetal development which results in an open space or ‘cleft’ that can occur on one or on both sides of the face.

 http://www.ivf.com/ivffaq.html
 http://nobelprize.org/nobel_prizes/medicine/laureates/2010/press.html
 http://www.sciencedirect.com.wwwproxy0.library.unsw.edu.au/science/article/pii/S0015028211008600
 http://embryology.med.unsw.edu.au/embryology/index.php?title=Lecture_-_Fertilization
 http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Cleft_palate_and_cleft_lip

--z3332629 11:25, 29 July 2011 (EST)

--Mark Hill 14:59, 29 July 2011 (EST) Well done Ashleigh. I will show you how to format the references correctly for the group project.

Something about the reference.[1]

References

  1. <pubmed>21719006</pubmed>

--Z3332629 07:38, 3 August 2011 (EST) Oh okay! Sorry I wasn't sure if references were necessary, so I just popped them in quickly at the end. The example that you have given, is that the exact way in which we should incorporate it in our group project? Should we use the Harvard or Endnote system? --Z3332629 07:36, 3 August 2011 (EST)

--z3332629 10:52, 4 August 2011 (EST)

Lab 2 Online Assessment 1.Identify the ZP protein that spermatozoa binds and how is this changed (altered) after fertilization.

The zona pellucid glycoprotein ZP-3 functions as a sperm receptor. After fertilization, it is believed that enzymes act to digest the entire zona pellucid, hence inactivating the ZP3 protein to prevent polyspermy.

Additional information of interest: “The sperm-binding activity of ZP3 is mediated by the oligosaccharide side chains of ZP3”... This observation suggests that “the oligosaccharides on ZP3 trap incoming sperm at the zona surface of unfertilized eggs and that this activity is lost after fertilization” . After ZP3 binds to the sperm, it then triggers the sperm’s acrosome reaction that enables the selected spermatozoon to penetrate the zona pellucida .

 Innovate us – Innovation and information for sustainable living. 2006-2011. What is a Zona Pellucida. InnovateUs.net. Viewed 04/08/2011 < http://www.innovateus.net/health/what-zona-pellucida>
 L.Browder and L.Iten (Ed.) 1998. (Dynamic Development). Fertilization: Sperm/Egg Recognition and Contact. USA. Viewed 04/08/2011 < http://people.ucalgary.ca/~browder/fertiliz.html>
 Keyon College, D.Marcey Chapter 13B: Animal Fertilization and Cleavage. Viewed 04/08/2011 < http://biology.kenyon.edu/courses/biol114/Chap13/Chapter_13B.html>

--z3332629 15:16, 4 August 2011 (EST)


Review article: Functional characteristics of dystrophic skeletal muscle: insights from animal models. Jon F. Watchko1, Terrence L. O'Day1, and Eric P. Hoffman2 http://jap.physiology.org/content/93/2/407.long

Research article: The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype Elena Kudryashova1, Arie Struyk2,†, Ekaterina Mokhonova1, Stephen C. Cannon2 and Melissa J. Spencer1,* http://hmg.oxfordjournals.org/content/early/2011/07/28/hmg.ddr311.long --Ashleigh Pontifex 13:31, 10 August 2011 (EST) --z3332629 13:34, 10 August 2011 (EST)

Lab sign in --z3332629 12:22, 11 August 2011 (EST)

[[Differentially expressed RefSeq genes in human trisomy 21.jpg

Differentially expressed RefSeq genes in human trisomy 2

Pone.0018493.g006.jpg

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080369/

Figure 6 Differentially expressed RefSeq genes in human trisomy 21. (A) Standard MA-plot of the normalized global observed counts per each RefSeq gene. (B) shows the percentage of RefSeq genes classified as strong, good, acceptable evidence of DE with respect to those not showing any statistical evidence.

Copyright Costa et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

[[

Differentially expressed RefSeq genes in human trisomy 21

Lab 3 Online Assessment

1. • Iodine is also significant, as iodine deficiency is the biggest cause of mental retardation.

References:

Living Strong. 2011. Healthy Food to Help Brain Development in Early Pregnancy. Accessed 11/08/2011. <http://www.livestrong.com/article/296096-healthy-food-to-help-brain-development-in-early-pregnancy/#ixzz1Ughcky2w> Living Strong. 2011. Vitamins for Fetal Brain Development. Accessed 11/08/2011. <http://www.livestrong.com/article/297928-vitamins-for-fetal-brain-development/> Living Strong. 2011. Healthy Food to Help Brain Development in Early Pregnancy. Accessed 11/08/2011. <http://www.livestrong.com/article/296096-healthy-food-to-help-brain-development-in-early-pregnancy/#ixzz1Ughcky2w>


File:Asj-5-43-g001.jpg

--Mark Hill 15:20, 11 August 2011 (EST) OK, so you have uploaded the image OK and included all the information requested. Except the last and most important step I described, how is "File:Asj-5-43-g001.jpg" an appropriate description of the original image? Why not rename this image to "Surgical correction of Spinal Curvature" or "Surgical Spinal Deformity Correction" something descriptive so that the image can be easily identified. You will not get full marks until this has been corrected.

X-ray examination of an 11-year-old boy, wheelchair bound for 8 months with Duchenne muscular dystrophy

A 11-year-old boy, wheelchair bound for 8 months with Duchenne muscular dystrophy.

A) Preoperative antero-posterior radiograph right sided showing 60° curve. (B, C) Two year post-operative antero-posterior and lateral radiographs showing sublaminar wiring instrumentation with Luque rods and distal fixation to pelvis with L-rod configuration.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3047897/

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

1532-429X-12-14-3.jpg

--Mark Hill 15:26, 11 August 2011 (EST) Same comment as above for this image.

T2 histograms

Examples of normalized (i.e. area under curve = 1) T2 histograms of DMD (Group A, B and C) and Normal control (N1) subjects show that DMD patients with normal EF but impaired εcc has higher heterogeneity in T2 compared to other groups.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846924/

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

X-ray examination of an 11-year-old boy, wheelchair bound for 8 months with Duchenne muscular dystrophy

Surgical correction of a 11-year old patient suffering from Duchenne muscular dystrophy.jpg

Surgical_correction_of_a_11-year_old_patient_suffering_from_Duchenne_muscular_dystrophy.jpg‎ (568 × 376 pixels, file size: 127 KB, MIME type: image/jpeg) This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3047897/

A 11-year-old boy, wheelchair bound for 8 months with Duchenne muscular dystrophy. (A) Preoperative antero-posterior radiograph right sided showing 60° curve. (B, C) Two year post-operative antero-posterior and lateral radiographs showing sublaminar wiring instrumentation with Luque rods and distal fixation to pelvis with L-rod configuration.

Results of the AGEP analysis of microarray data from two Duchenne muscular dystrophy samples against the reference database.

File:Results of the AGEP analysis of microarray data from two Duchenne muscular dystrophy samples against the reference database.jpg

Figure 2

Results of the AGEP analysis of microarray data from two Duchenne muscular dystrophy samples against the reference database.

A) The sample from patient 3 resembles most closely striated muscle among the 44 reference tissues. B) Alignment of the patient's transcriptome at the level of individual genes. On the x-axis are genes (17 330) and on the y-axis the three most similar tissues. Green color indicates that the genes have an expression level typical for that tissue, whereas red indicates atypical expression levels. Genes have been ordered according to their level of similarity against the most similar tissue (striated muscle). C) View of distinct gene sets and pathways for the most similar tissue (striated muscle). Relative enrichment of atypical genes is shown on the right side to illustrate aberrant gene expression levels for individual patient samples. Genes involved in inflammation response, complement mediated immunity and muscle contraction had more atypical expression levels as compared to healthy striated muscle (198.6, 70.9 and 7.1 fold enrichment of atypical genes, respectively), indicating that these processes were altered in DMD in comparison to healthy muscle. D-F) The gene expression profile from patient 4 resembled mostly striated muscle (primary match), but revealed adipose tissue as the second best matching tissue. As compared to patient 3, this patient had a larger number of muscle typical genes involved in inflammation response, complement mediated immunity and muscle contraction suggesting a less severe disease for patient 4.

Copyright Notice

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pmc/articles/PMC3080808/

Mark Hill, I have been having implications uploading files! I correct the file name, however I have uploaded 3 files and they have all come up with a little red cross symbol. I'm not sure as to what has happened, I have attempted the task multiple times with different images and it keeps occuring. Please take this into account for my marks for the online lab submission.

Kind regards

--z3332629 13:20, 17 August 2011 (EST)

DMD patients and causes of higher heterogeneity

DMD patients and causes of higher heterogeneity.jpg

T2 histograms.

Examples of normalized (i.e. area under curve = 1) T2 histograms of DMD (Group A, B and C) and Normal control (N1) subjects show that DMD patients with normal EF but impaired εcc has higher heterogeneity in T2 compared to other groups.

Accessed via: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846924/

Copyright Notice

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Lab week 5 sign on --z3332629 11:02, 18 August 2011 (EST)


Lab 5, Week 6 Online Assessment 1. Which side (L/R) is most common for diaphragmatic hernia and why? A diaphragmatic hernia is a condition where there is a hole in the diaphragm and organs from the abdomen go up into the chest cavity. It is most common on the left side as the contents such as the stomach, spleen and intestines (that are all positioned to the left side of the body) move up into the chest region displacing the chest organs to the contralateral side, leaving very little room for lungs to grow and develop properly.

--z3332629 22:00, 26 August 2011 (EST)

--z3332629 11:18, 1 September 2011 (EST)

Individual Assessment – Week 7

1. What week of development do the palatal shelves fuse? Week 9. 2. What animal model helped elucidate the neural crest origin and migration of cells? The chicken model. 3. What abnormality results from neural crest not migrating into the cardiac outflow tract? Tetralogy of Fallot --z3332629 12:32, 10 September 2011 (EST)

Lab Week 8 Sign on

--z3332629 11:01, 15 September 2011 (EST)

Lab 7, Week 8 Online Assessment

1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy? A) No B) Yes they are generally involved and proliferate during hypertrophy – satellite cells are important for sustaining hypertrophy by increasing the amount of myonuclei present.

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

Slow-twitch skeletal muscle fibres contain a larger number of myonuclei and satellite cells in comparison to fast-twitch muscles. Chronic low-frequency stimulation (CLFS) causes a fast to slow fibre type shift by imitating the “electrical discharge pattern of slow motoneurons innervating slow-twitch muscles” resulting in the recruitment of satellite cells.

Lab 8, Week 9 Sign on

--z3332629 10:41, 22 September 2011 (EST)

Peer Assessments

Group 1:

  • Your page was extremely in depth which was really great.
  • Its great that you’ve linked words to the glossary
  • The use of a range of different images was good and I like how you made the effort to copyright your own image!
  • You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section.
  • The dot point form of clinical manifestations perhaps could have been better formatted into a table as I personally found your formatting confusing and slightly not a well-organised.

Group 2:

  • A very clear format has been used. The mixed use of dot points and paragraph form were used appropriately in most sections and made your web-page easy to read and follow
  • Good use of self drawn images, however the large image of Angelo DiGeorge seemed slightly irrelevant and took up a large portion of your page. Your first two images should probably have small heading below the image, just to make them a bit more clear to the reader.
  • A coherent history/timeline was used.
  • You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section. Some references are incompletely, or have no linking information such as reference 49.
  • Your current research section was good but perhaps could have been tabulated just for easier reading and to really draw out the main points.
  • Your table for clinical manifestations could have been summarised otherwise it should maybe just be written in paragraph form.
  • Your page definitely reflects the time and effort you have placed into the assignment. I really liked the range of formatting you used and the use of colour made your page easy to read and follow. Another great feature was the section based on the example of Tetralogy of fallot. It was interesting to read how other defects that we have discussed in class, linked in with your studied abnormality.

Group 3:

  • Great amount of depth, you have covered each subheading quite well
  • It was great to see a comparison to other similar defects
  • Non-disjunction is discussed twice, can it be summarised into just the one section?
  • In the signs and symptoms section, the images seem to be arranged in a disorderly fashion, maybe place them elsewhere. Also your image comparing age and intellect is extremely small. The sizing of a larger majority of your photos needs to b adjusted
  • You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section.
  • There were only two examples of management strategies, are there anymore out there? Maybe you could do a comparisons table for this section

Group 4:

  • Interesting but good use of a quote
  • The introductory paragraph for the “history” section could probably be cut down or eliminated altogether
  • Great inclusion of statistics in regards to epidemiology
  • Student images were excellent, well drawn and were engaging
  • Pathogenesis section could have been placed in a table just to change up the formatting
  • The video inclusion was good and relevant
  • You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section.

Group 5:

  • I liked your page as it had a simple and easy-to-follow lay out
  • Some of the images could have been made larger on your actual page just so that it adds dynamics to your page
  • I was left wanting to know more about the diagnosis, this section was quite brief
  • I personally found your treatment table hard to read because there was so much information. Personally I believe that maybe dot-point form could have been used to get your main points across.
  • Perhaps expand upon your glossary as there were some words that weren’t in there that maybe should have been.

Group 6:

  • I would suggest placing the history section into a timeline or table format just so that significant dates are more clear and emphasised.
  • The gene profile section was great. It was in detail, it was coherent and the inclusion of gene images enhanced my understanding of this particular section.
  • Maybe for the “how the procedure works” section of the diagnostics table could have been summarised into a flow diagram or through images, rather than having a chunk of text. This could make it more straight forward to the reader.
  • Your website was generally well-written and to the point. You varied your formatting regularly which made your page entertaining.
  • My last suggestion would to only use the image of the shunt once and finding a different image as the repetitiveness of this is slightly disengaging

Group 7:

  • Your pathogenesis section was good, it was thorough and went into significant depth. The use of animal models and the support of recent studies was also a positive aspect
  • The photo of the ub pathway should be smaller or be placed as a thumb nail as it isn’t something that directly contributes to your defect
  • It is a shame that there is such a large gap in your Aetiology section, but i do realise that this is slightly out of your control due to wiki formatting issues.
  • I personally found the signs and symptoms section to be slightly confusing in format. Perhaps placing this info into a table would make it more concise.
  • Treatment and management section had lots of detail and highlighted a few different methods which gave a good insight of the current technologies and strategies out there in the market.

Group 8:

  • Epidemiology was a bit brief and perhaps could be expanded on or supported with statistics from multiple nations etc.
  • Aetiology section was really detailed and had a great span of information. Your image of the Friedreich’s pedigree could perhaps be slightly bigger on the page because I missed it the first time viewing your page.
  • The neuropathology section was extremely ‘full’. The amount of text in heavy paragraphs may be off putting to some readers. A suggestion would be to break it down with the inclusion of tables and maybe dot-pointing the information that can be summarised.
  • Maybe include a glossary so you can accommodate for all readers.
  • It was good to see that you grouped your references 

Group 9:

  • Great use of student drawn images
  • You must work on summarising your information, dense regions of text in the history section makes it extremely heavy on the reader .. perhaps the use of dot points would help improve this section and aim to be more straight to the point
  • Good referencing, however needs to be properly formatted
  • Images are poorly detailed, more info would be great
  • Poor glossary, this needs to be worked on, try hyperlinking!!
  • After reading the current research section, I was left wanting to know more. Perhaps provide a few links to pages in pubmed that detail current research papers etc.


Group 10:

  • Intro was good, it was brief and straight to the point
  • The beginning paragraphs of the history could be more summarised especially considering that you have a timeline beneath
  • Your use of a table for the genetics’ component was great. It was easy to read and concise. It was a different approach but it worked well.
  • More information could have been added to the treatment section such as comparisons between key methods/strategies, the pros and cons
  • The phenotype section was well set out although I believe it should have been placed up after the genetics section so that the information flows more consistently
  • The layout of the implications section was slightly unclear. Maybe here you could have large heading for implications, followed by a list (dot point) of the implications occurred then have in paragraph form a description of each. Having headings such as: Other problems and other associated medical conditions tended to drag on this segment.
  • The inclusion of the supportive associations was a nice little touch!
  • Great use of referencing

Group 11:

  • I would suggest expanding on the current and future research section, maybe add in links to current research institutes or research papers.
  • Perhaps add an image in for problems associated with cleft palate, just to add some dynamics and colour to the page.
  • Perhaps tabulate the treatment section just so that the information is clearer
  • Placing words in bold, although it was just a little touch, helped to highlight the main points you were trying to get across which was good.
  • Good incorporation of tables and different formatting styles
  • Your introduction was clear, simple and straight to the point.
  • You’re referencing needs to be tidied up; there are multiple entries from the same source that tends to clutter your reference section.
  • Your timeline was extremely spaced out, I would suggest deleting the space between your dot points just so that it reads easier.

Lab Week 10

--z3332629 12:32, 29 September 2011 (EST)

Lab Week 11

--z3332629 12:00, 6 October 2011 (EST)


Lab Assessment:

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

Congenital rubella syndrome (CRS) – transmitted from infected mother via the placenta.

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

Blockage, abnormal formation and the relative short length of the auditory tube can contribute to poor neonatal drainage.

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

Beckwith-Wiedemann syndrome - caused by mutation of genes located 11p15.5 chromosome region.

Entry number: 130650

Phenotype MIM number: 130650

Gene/Locus MIM number: 103280

Lab Week 12

sign on not working 11:04am - z3332629

Lab Online Assessment:

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

The interatrial septum is formed by the fusion of the septum primum and septum secundum. The two passages that connect the right and left atria is the foramen ovale and the foramen socumdum.

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

  • Ebstein’s anomaly tricuspid atresia
  • Aortic stenosis
  • Coarctation of the aorta
  • Ventricular septal defect (VSD)
  • Atrial septal defect (ASD)
  • Double outlet right ventricle (DORV)
  • Transposition of the great arteries (TGA)

Lab Week 12

sign on not working again 10:58am 20/10/2011- z3332629