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==Trisomy 21 Discussion==
==Trisomy 21 Discussion==
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'''Lab Attendance'''
==Lab Attendance==
z3332250 12:04, 28 July 2011 (EST)
z3332250 12:04, 28 July 2011 (EST)
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z3332250 11:03, 22 September 2011 (EST)
z3332250 11:03, 22 September 2011 (EST)
Ryan Tran 11:05, 29 September 2011 (EST)

Revision as of 18:05, 29 September 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 1 Questions

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

The technique of In Vitro Fertilisation of (IVF) was developed by a Robert G. Edwards which was awarded the 2010 Nobel prize for this technique of fertilisation. Although the origin and reason for this technique is when all assisted reproduction has failed, the term IVF can be defined as being a process which fertilisation occurs outside the body instead occurs within a testube or petri dish(MedicineNet.com). where the female egg(unfertilised) and male sperm is place together until fertilisation occurs and returned to the uterus (in zygote stage) to continue development as a usual pregnancy(New York Times).

However the origins of IVF was mainly for women unable to give birth, this can be due to damage either in the fallopian tubes or problems with the ovaries which leads to infertility. For these reasons the technique of IVF was developed where the first IVF or test tube baby was born in 1978.


New York Times, health section "Pioneer of in Vitro Fertilization Wins Nobel Prize" (2011) from http://www.nytimes.com/2010/10/05/health/research/05nobel.html

Medical dictionary medicine net, "definition of IVF" (2011) from http://www.medterms.com/script/main/art.asp?articlekey=7222

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

Paper 1 Outcome of cycles of oocyte in vitro maturation requiring testicular sperm extraction for nonobstructive azoospermia.

Depicted the rates of fertility and of pregnancy cycles of the implantation and transferring of azoospermia. Where not much research is done in this area and though IVM (in vtro maturation) within the research paper being a alternative which has low rates of OHSS (ovarian hyper stimulation syndrome)where results of whether the oocyte rescues the affects sperm by NOA (non obstructive Azoospermia) which relates to perm motility where 4 pregnancies where achieved and 2 were give birth. though its inconclusive that the IVM method increases the chances of pregnancies where sperm affected by NOA, though still has small percent off births as experiment showed 2 births still were achieved

Biogenesi, Reproductive Medicine Center, Istituti Clinici Zucchi, Monza, Italy, (2011)

Paper 2 Prognostic value of triploid zygotes on intracytoplasmic sperm injection outcomes.

describes the influences which affect 3 complete sets of chromosomes on how embryos from same cohort are fertilised. this resulted in the 50% lower risk of pregnancy and 3.5 fold more risk of miscarriage

Fertility-Assisted Fertilization Center, Av. Brigadeiro Luis Antônio

3. Identify 2 congenital anomalies.


which is the hereditary condition which causes bone formation unable to mature and develop properly where bones of limbs become smaller and shorter may also affect the facial region, this is sometimes know as dwarfism

Marfan syndrome:

A condition which affects the connective tissues and causes the limbs to develop this serve disorder can affect more than just limbs reaching to connective tissue through out the body which can cause issues with the heart and the vales.

lol (ok to sign you add (-- + ~ ~ ~ ~) )

--z3332250 00:28, 6 August 2011 (EST) --Z3332250 10:08, 3 August 20111 (EST)

Lab 2 Questions

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

The Zona Pellucida Protein (ZP) required for sperm to bind is ZP3 this glycoprotein is needed to activate the acrosome reaction where by the sperm fusing with the oocyte plasma membrane to allow actual fertilisation.

2. Identify a review and a research article related to your group topic. (Paste on both group discussion page with signature and on your own page)



  1. <pubmed>21358192</pubmed>
  2. <pubmed>3124302</pubmed>

---z3332250 11:20, 9 August 2011 (EST)

Lab 3 Questions

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

Two dietary requirement are folate, Omega 3 fatty acid and iodine which affect the neural development during embryo development. Where there is clear evidence that Folic acid decreases chances of neural defects, studies by the London School of Hygiene and Tropical Medicine has shown through the increase in folic acid causing a reduction in neural abnormalities such as Spina bifida where the neural tube doesn't close properly. However another important component in the maternal diet is Omega 3 fatty acid seen to be a component in neural development and differentiation his is observed in rat stem cells by (Ma,D et al 2011).

Where as Iodine affects the thyroid gland via hypothalamus to produce iodine uptake where research has shown that iodine deficiency is problem in third world countries. this is a issue due to iodine being salt is required in the general diet.(Andersson et al 2011). Where iodine deficiency causes impairment of the hypothalamus due to the negitive feedback system seen by.(Zimmermann MB.2011).


1).London School of Hygiene and Tropical Medicine, London, UK PMC2845867

2).Ma D, Zhang M, Larsen CP, Xu F, Hua W, Yamashima T, Mao Y, Zhou L.(2011)DHA promotes the neuronal differentiation of rat neural stem cells transfected with GPR40 gene.PMID: 20211608

3).Andersson M, de Benoist B, Rogers L.Human Nutrition Laboratory, Institute of Food Science and Nutrition, Swiss Federal Institute of Technology Zurich, CH 8092 Zurich, Switzerland.(2011)PMID:20172466

4).Zimmermann MB.(2011)Laboratory for Human Nutrition, Swiss Federal Institute of Technology Zürich, Switzerland; The International Council for the Control of Iodine Deficiency Disorders (ICCIDD), Zürich, Switzerland.PMID: 21802524

2.Upload a picture relating to you group project. Add to both the Group discussion and your online assessment page. Image must be renamed appropriately, citation on "Summary" window with link to original paper and copyright information. As outlined in the Practical class tutorial.

Original Name:Pgen.1000812.g002.jpg

Gene expression responses of Friedreich's ataxia

Gene expression responses of Friedreich's ataxia

z3332250 00:55, 16 August 2011 (EST)

Lab 4 Questions

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

The allantois is found to continue with the hind-gut

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

the three shunts of the embryonic circulation are:

  • Ductus arteriosus: Which is the connection of pulmonary artery and the aortic arch
  • Ductus venosus: is shunt between the umbilical vein and the inferior vena cava
  • foramen ovale: is the shunt located in the right atrium of the heart

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

Treatment, physiological component of pathogenesis, physiological component of cardio and musculature

z3332250 12:36, 23 August 2011 (EST)

Lab 5 Questions

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

Diaphragmatic hernia is most common on the left side of the diaphragm where the contents of the abdomen enters the chest region.

z3332250 00:55, 27 August 2011 (EST)

Lab 6 Questions

What week of development do the palatal shelves fuse?

The fusion of the shelves occur during week 9 of development of the embryo, this fusion occurs and become one structure.

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

The early animal used for improving knowledge of neural crest was the chick embryos, experiments were done on chick embryos on the nervous system development which enable greater understanding of neural crest origin and development into this area of study.

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

Neural crest development are a major component in the cardiovascular development, without the neural crest migration can lead to major disorders such as Tetralogy of Fallot (TOF) this congenital disorder is a cardiac defect and a example of neural crest not migrating to cardiac outflow affecting aorta and pulmonary arteries which affect flow.

z3332250 10:42, 15 September 2011 (EST)

Lab 7 Questions

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

Satellite cells are involved in regeneration of the muscles cells, where injury cause the satellite cell to activate from basal membrane.

  • (a) However satellite cells are not required for hypertrophy due to satellite function is to regenerate new fibres.
  • (b) Although satellite cells are minutely involved causing slight hypertropic increase during repair increasing more muscle mass when proliferating during repair.

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

Over expression of trans-gene has cause this transition. where knock out of gene experiment would confirm fibre type change. Though low stimulation other wise would cause the usage of slow fibres and constant repair would adapt to change causing the slow fibres to become fast fibres.

Trisomy 21 Discussion

Peer Assessment:

Group: 1

  • Introduction terms not bold or linked to the glossary “monosomy” made the introduction most confusing. Referencing of this heading contain only links should manually reference if possible.
  • Image from the epidemiology need to be explained of the congenital disorders from turners a small paragraph would suffice. Also similar to the introduction the referencing of the 4th reference can be found on “Pubmed” and could be referenced properly instead of having links.
  • Etiology had good flow and genetic terms linked to glossary which was useful. Content links to the images with some elaboration, only issue is the referencing is not done properly and should be done properly.
  • Clinical manifestation contains useful information of the disorders related though has many referencing repeating and should be fixed. Not only this but maybe the heading would be better to be below the diagnosis to have better flow to know what your diagnosing .
  • Diagnosis has good use of tables and images to display the methods to diagnose the disorder with labelled diagrams though would be better more separation between text looks to cramped together .
  • Treatment seems unorganised with no clear way to know what a treatment is or not as first paragraphs is a routine check-up and should be placed as another sub heading or below with management.
  • Referencing in general should be major concern removing the repeats and those not done properly altered.
  • Research id layout is clear with sufficient amount if description of the research done in this field.
  • If possible timeline would be best in understanding the origin of the disorder and link to the current research.

Group: 2

  • Introduction is clear cut and enters the topic with easy understanding though should incorporate the image more, where the image has no description of what its suppose to explain where symptoms would link to the image would help a lot.
  • Timeline used correctly in displaying the increased understanding of the disorder, image used was does not have a description so don’t know who is the discover right or left and what is the image suppose to show.
  • Etiology refers to a lot of studies or research which is not clearly explained how the research shows the causation of the disorder with various results showing different reasons for causation.
  • Pathogenesis clearly links image to the common deletion of gene with clear explanations of genetics component of Digeorge syndrome. Though would become more fluid with introduction of embryological effects instead of leading to pharyngeal defects.
  • Embryological component didn’t expand the defects of the pharyngeal arches as well not much of the parathyroid which is major component of calcium levels also poorly linked to the image without any mention of the figure.
  • Diagnostic tests require an introduction onto the topic and techniques, where heading directly states the techniques without any understanding of what these means.
  • Clinical manifestations describes information clearly though the congenital heart defects images would work better below the information, so text and information with image below.
  • Treatment has image relating to plastic surgery could have a description even though it’s a example of surgery.
  • Current and future research should be more organised instead of paragraphs have dot points to know the difference between new research and current also images not place in correct manner but in between the glossary as well.
  • Referencing has not been done correctly with only links, repeats and some are even blank.
  • Glossary not linked to the term or bolded to note that it’s in the glossary so while reading its confusing if you have no pathology background.

Group: 3

  • Introduction begins in a confusing manner should begin explaining the disorder Klinefelter’s syndrome before explaining the genetic component of meiosis. Where the image was explained though would be more beneficial if the introduction have an image of the founder of the syndrome within this section or within the history heading.
  • History has clear structure with explained information of the progress with relation to the timeline of the syndrome, images would have been more useful within this sub heading to make livelier instead or too much text.
  • Epidemiology detains the male component though could explain female areas related to syndrome as well figure 3 .
  • Pathogenesis is organised with images placed in areas which bring upon confusion where fig 5 and 6 both linking to Non-disjunction, image placement beneath text would be better placement.
  • Signs and symptoms could have a little more elaboration and/or more images
  • Sub heading of diagnosis at birth needs to place either in the centre or down 1 sentenced to become more organised.
  • References should remove any repeats and the links below should be manually added to the references either under another subheading or normally
  • Glossary should be linked throughout, either linking the word to the glossary or even bolding the terms so no confusion for people without any background in the area can understand.

Group: 4

  • Introduction is well structured though image of the Huntington gene protein would be more beneficial to where I’m looking relating to genetics
  • Genetics could expand more on the inheritance and the Huntington gene
  • Role in transcription sub heading image removed
  • Diagnostic test image needs to placed in correct section and the video should be placed at the end of the section, placement of the video cause confusion of the other diagnosis tests
  • Treatment should have an introduction which introduces the drug used to manage diseases and therapies, better layout where most commonly used drug form management and therapies following the table to show alternative treatment.
  • Current/future research should have some future research and images placed have no description which research project image belongs to
  • References contain mistakes with repetitions and blanks also some done incorrectly such as reference “3” where not properly inputted on the wiki page
  • Glossary was not linked to the web page as well while reading was lost without referring to a dictionary due to no indications definition is in the glossary

Group: 5

  • Introduction images placement may work better on one side or below the information though current placement is confusing affecting text as well.
  • History requires more elaboration as well at least indication of the founder in the introduction of the history even an image of the founder would benefit this section, although the timeline is nicely done.
  • Development and disease would be better as a sub heading under eitology as development of the disease links with the causation of the disease.
  • Glossary needs work done as most terms are genetic related and those without a genetic background will find difficulty understanding the web page.
  • Referencing only needs to adjust the links, links need to be sited properly manually.

Group: 6

  • Introduction is clear though lack images where a image of example of a blue baby would suffice
  • History begins clearly though becomes about surgical history instead of the disease, where time line is not even present of how understanding of this disease improved.
  • Epidemiology should be expanded either the genetics of the disease, in general have more information of the causes, incidence and distribution of the disease.
  • Signs and symptoms poorly structured and requires more images also doesn’t have an introduction to the signs and symptoms. Although the extra links to comparison of the heart is useful and nicely used.
  • Pathophysiology should add supplementary information to back up all the information.
  • Diagnosis please add the images, while there is the content though no image following also first box has “insert text” very confusing.
  • Treatment/management indicate the separation of surgery and other treatment types in the introduction which is lacking otherwise all is A ok
  • Glossary needs to be referenced to other sections of the web page also expanded as most language used is unknown without a dictionary.
  • Referencing needs to be fixed as links is not proper referencing also the repeats need to be removed

Group: 7

  • Introduction well established and clear though image can’t hurt
  • History of angelmans would be lighten up with the image of the founder
  • Epidemiology could be expanded a little more and even a map would make this section lively
  • Aetiology description of the classes could have a paragraph explaining the table relating to the cause of angelmans
  • Pathogenesis was a bit confusing with mostly genetic terms that were not found in the glossary. Otherwise structure is proper and well integrated with images
  • Signs and symptoms table is confusing were addition of dot points in the table would be helpful
  • Complications heading seems rather odd to be placed separately form the signs and symptoms, would be better added as a subheading.
  • Diagnosis could introduce the diagnosis types in small paragraph, type are clearly expanded though image of the child could be made smaller
  • Related diseases would be better in the symptoms with the complications as another sub heading instead of small niece headings
  • Genetic council would be suited under the prognosis as chances of risks
  • Research should be sub divided in to current and future research
  • Referencing needs to remove repeats and link needs to be manually referenced. Glossary needs the addition of some genetic terms and method of indicating the glossary words to the web page.

Group: 9

  • Introduction has clear explanation of the topic though image would liven the section up
  • History is very informative though have no images, image of the founder would suit this area. While the time line done properly and looks good but bullet points would make look better
  • Genetic factors should incorporate the image used “fig 2”, although the use of the table is well made explaining the cases of genetic transmission.
  • Diagnosis introduction done well though image “fig 3” not mentioned in the text which should also be integrated into the text.
  • Epidemiology should be first before the diagnosis and treatment would be better as its own heading and below near the end.
  • Headings needs to be more organised and some more images which are linked to the text otherwise very bulky with text
  • Current research/ future research done well and separated with sub headings
  • Glossary need to be expanded as most terms not understood without a dictionary
  • Reference 23 and 2 needs to be fixed otherwise all done well

Group: 10

  • Heading order needs to re-arranged and done properly with diagnosis above before signs and symptoms.
  • Introduction done sort of well needs to integrate image as an example of the myofibres.
  • History rather bulky with too much text and no image, image of the founder would be fine. Also no time line present of DM needs to be added
  • Epidemiology seems rather empty, images would benefit this section also more stats, further expansion of sub headings would also do well for this section
  • Genetics aetiology needs to be expanded where seems to be cramped, though usage of image needs to be noted
  • Pathogenesis needs images and further information
  • Signs and symptoms needs to be expanded and image of some signs or tables
  • Clinical manifestation done well with image and further sub-headings
  • Diagnosis requires more attention with further methods of detection of DM
  • Treatment is well done with the usage of the table
  • Glossary needs to further expanded also linked to the pages so easy to follow the page
  • References are not complete with links and repeats of the references

Group: 11

  • Introduction needs to be expanded a bit seems like the description of the incidence
  • History needs together with the timeline which would benefit the section, where the timeline is done properly with the image of the founder though time line better together then separated
  • Diagnosis is well done though images would benefit this section
  • Syndromes and anomalies should be expanded a bit though good linkage of the images to the rare cases
  • Development should be changed to aetiology instead
  • Pathophysiology needs more images though nice use of tables
  • Genetic configuration needs references to back up the evidence otherwise is just statements
  • Neurology greatly structured and well presented and has image to liven the section
  • Treatment generally well structured though ex[and more on the surgical aspect as well problems associated with cleft palate
  • Current and future research needs more information as well separation between the current and the future research.
  • Glossary needs to be expanded further and linked either to section or bolded throughout the web page.
  • References need a little tweaking with the removal of the repeats, also no other information in the sub heading textbooks

z3332250 09:47, 29 September 2011 (EST)

Lab Attendance

z3332250 12:04, 28 July 2011 (EST)

z3332250 11:03, 04 August 2011 (EST)

z3332250 11:01, 11 August 2011 (EST)

z3332250 11:05, 18 August 2011 (EST)

z3332250 11:03, 25 August 2011 (EST)

z3332250 11:08, 1 September 2011 (EST)

z3332250 11:38, 15 September 2011 (EST)

z3332250 11:03, 22 September 2011 (EST)

Differentially expressed RefSeq genes in human trisomy 21.jpg

This is the area to add text and information about the image

--Mark Hill 10:08, 3 August 2011 (EST) Where are your answers to first lab assessment? Need to be completed before Lab 2.