Difference between revisions of "User:Z3332183"
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Papillorenal Syndrome [http://omim.org/entry/120330 OMIM Entry #120330–Papillorenal Syndrome]
Papillorenal Syndrome [http://omim.org/entry/120330 OMIM Entry #120330–Papillorenal Syndrome]
Revision as of 10:37, 20 October 2011
Lab 4 Online Assessment
- The allantois, identified in the placental cord, is continuous with what anatomical structure?
- Identify the 3 vascular shunts, and their location, in the embryonic circulation.
- Identify the Group project sub-section that you will be researching. (Add to project page and your individual assessment page)
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Lab Assessment 1:
1. Identify the origin of In Vitro Fertilisation and the 2010 Nobel Prize winner associated with this technique
Robert G. Edwards was awarded the Nobel Prize for his work in the development of in vitro fertilisation. His work in this area first began when he realised that a possible method for treating infertility would be for fertilisation to occur outside of the body. Edwards worked towards finding methods to fertilise human egg cells outside of the womb, since previous experiments had been performed showing that rabbits egg cells could be fertilised in test tubes and result in offspring.
A human egg was first successfully fertilised in a test tube in 1969, although the egg was not able to develop beyond single cell division. Edwards then worked together with Patrick Steptoe, who used the laparoscope to inspect and remove eggs from the ovaries. These mature eggs that were removed from the ovaries and fertilised with sperm were able to divide several times.
On the 25th July, 1978, Louise Brown, the first IVF produced baby was born. In Australia, the first successful case of IVF was in 1980, and since then, the use of IVF as a fertility treatment has become more and more popular with 1, 596 IVF babies being born in 2005.
2. Identify a recent paper on fertilisation and describe its key findings
Not all sperm are equal: functional mitochondria characterize a subpopulation of human sperm with better fertilization potential.
•This article describes a study in which fluorescence microscopy was used to assess mitochondrial function of human sperm samples and to determine whether there was a link between mitochondrial function and the functional properties of individual sperm.
•It was found that mitochondrial activity did have a link to the quality of sperm both within different human samples as well as within the same sample.
•The sperm with more active mitochondria were found to contain a lower percentage of chromatin damage, as well as a greater ability to decondense and contribute to early development.
•The activity of mitochondria can be seen as a clear sign of the functionality of individual human sperm. In terms of practicality for fertilisation, cell sorting to produce a subpopulation based on mitochondrial activity and therefore sperm functionality may be possible.
Reference: Sousa, Ana Paula., et al. Not all sperm are equal: functional mitochondria characterize a subpopulation of human sperm with better fertilization potential. PLoS ONE. 6(3):e18112, 2011. 
3. Identify 2 congenital anomalies
Lab Assessment 2
1. Identify the ZP protein that spermatozoa binds and how this is changed (altered) after fertilisation.
The ZP protein that spermatozoa binds to is the ZP3 protein. After this binding has occurred, the acrosome releases degradative enzymes which allow the sperm to penetrate the zona pellucida.
2. Identify a review and a research article related to your group topic.
Review Article:The genomic basis of the Williams – Beuren syndrome •Williams syndrome is a genomic disorder with symptoms including mental retardation, visuospatial impairment & overfriendliness.
•It is caused due to a hemizygous contiguous gene deletion with regards to chromosome 7q11.23.
•This review article deals with the genomic assembly of the region involved in Williams syndrome as well as the chromosomal mechanisms such as deletions and duplications and the consequences of these.
Reference: Schubert, C. The genomic basis of the Williams – Beuren syndrome. Cell, Mol. Life Sci. 66:1178-1197, 2009 
Research Article: Functional, structural and metabolic abnormalities of the hippocampl formation in Williams syndrome •In this study, neuroimaging (PET and fMRI) was used to investigate the hippocampal structure, function and metabolic integrity of 12 people with Williams syndrome compared to 12 healthy controls.
•N-acetul aspartate can be seen as a marker for synaptic activity and measures of this were reduced in those with Williams syndrome
•Although regular hippocampal size was maintained in both groups, slight changes in the shape were present.
•Through the results of the investigation, it was suggested that the neurocognitive abnormalities seen in Williams syndrome may be partly due to hippocampal dysfunction.
Reference: Meyer-Lindenberg A., et al. Functional, structural and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 115(7):1888-95, 2005 
Lab Assessment 3
1. What is the maternal dietary requirement for late neural development?
Though there are a number of maternal dietary requirements, iodine is particularly important for late neural development. This is because iodine helps to prevent iodine deficient disorders such as hypothyroidism. Omega 3 is also important for neural development, particularly brain stem development.
Lab Assessment 4
1.The allantois, identified in the placental cord, is continuous with what anatomical structure?
The allantois is continuous with hindgut.
2. Identify the 3 vascular shunts, and their location, in the embryonic circulation.
•Foramen ovale: is located between the right and left atria
•Ductus arteriosus: is located between the pulmonary artery and the aortic arch
•Ductus venosus: is located between umbilical vein and the inferior vena cava
3. Identify the Group project sub-section that you will be researching. etiology and diagnosis
2.History of the disease
6.Associated medical conditions
7.Cognitive, Behavioural and Neurological Problems
10.Specialized Facilities/ supportive associations
13.Current research and developments
Lab Assessment 5
1. Which side (L/R) is most common for diaphragmatic hernia and why?
The left side is more likely to be the site of hernias as the right side of the diaphragm closes first during development, makeing the left side more susceptible to herniation.
Lab Assessment 6
1. What week of development do the palatal shelves fuse?
During week 9 of development, the palatal shelves fuse. The secondary palates as well as the primary palate both fuse together during this period.
2. What early animal model helped elucidate the neural crest origin and migration of neural crest cells?
The early animal model that helped to elucidate the neural crest origin and migration of neural crest cells is the chicken model.
3. What abnormality results from neural crest not migrating into the cardiac outflow tract?
The abnormality that results from neural crest not migrating into the cardiac outflow tract is Tetralogy of Fallot.
Lab Assessment 7
1. Are satellite cells (a) necessary for muscle hypertrophy and (b) generally involved in hypertrophy?
Satellite cells are generally involved in muscle hypertrophy but they are not essential for muscle hypertrophy.
2. Why does chronic low frequency stimulation cause a fast to slow fibre type shift?
Chronic low frequency stimulation involves exposing fast muscles to the actions of low frequency muscles similar to the stimulation that the slow fibre type muscles are exposed to via slow motoneurons. This causes changes in the myosin heavy chain expression which results in a fast to slow fibre type shift in a “neighbour rule” sequence.
Peer Assessment of the Trisomy 21 Page
•The links in the introduction to further information regarding genetic and diagnostic links were useful, and they are in a good position on the page.
•In terms of the subheadings, the order does not have a very good flow about it. I think that the recent findings subheading should be further down towards the end of the page, not straight under the introduction before any elaboration on the causes or characteristics of Trisomy 21 have been provided.
•There is a good balance between pictures and information, though some of the pictures, in particular the graphs are not incorporated into the written information or explained very well in any detail.
•There also seems to be information missing in terms of important areas that should be explored in greater detail throughout the page. This includes information regarding aspects such as symptoms and characteristics of the abnormality, maybe a bit more on the history and discovery of the abnormality and some future research or directions regarding the disorder.
•Do not all have captions underneath them – for instance the first picture in the introduction section
•They do not all have the copyright information relating to free access included – regarding the image of John Langdon Down. Also this image does not relate to the information that it is placed near. It would be more relevant to have it in a section such as history of the abnormality. The image is also in the middle of 2 subheadings, and looks as it is not placed in the correct position.
•The terms or glossary list is below the references, where it should be just above them
•Reference number 6 is not formatted correctly – there is just a link with no other information
Lab Assessment 8: Peer Review
•The links to the glossary are useful and a good idea, however they need to be used throughout the whole project and not just in certain sections so that it is consistent.
•The student drawn image of maternal serum sampling does not contain the correct copyright information. You need to include the correct template in the information for this image.
•The information is easy to understand and well structured although care is needed in some of the wording and grammar used. For example in the introduction, sentences such as “Each person who has turner syndrome all vary in their clinical phenotype” need to be reworded.
•Also consistency is needed in the capitals you use with Turners Syndrome, as it changes from this to turners syndrome and Turners syndrome throughout the page.
•There seems to be a good balance between the text and images which is good to keep the reader’s attention. Just be careful with the placement of some of the images as it disrupts the formatting and flow of the page.
•Subheading structure is good, though some of the headings such as future research still need to have more information.
•I like the table for Postnatal Diagnosis and I think the images are used well here.
•The referencing needs to be fixed up as many references appear multiple times in the reference list.
•I’m not sure if you need the definition and explanation of congenital disorders at the very beginning of the page. The third sentence beginning with DiGeorge syndrome would make more sense as the beginning of the introduction.
•I like the use of images in the introduction and at the beginning of the page, but they are not referred to in the text and do not include captions. Perhaps you should include a brief caption under each image explaining what the image is portraying and why it is relevant.
•Be careful with the wording of some things, particularly in the introduction, i think some parts need to be edited and reworded as they are a little confusing to read.
•The fact that the timetable in the history goes all the way up to 2011 is good and this section seems to be referenced well.
•The student drawn image of the heart defects do not include the correct template that is required for proper copyright information.
•Good use of tables to break up the text, although the different colours is a bit distracting, i would recommend choosing one colour and using that throughout the page.
•The referencing needs to be fixed up as many references appear multiple times in the reference list.
•Good subheading structure, the page flows nicely
•Some parts of the introduction need to be reworded and it should start with an explanation of Klinefelter’s rather than the description of meiosis which is i think is unnecessary at the very beginning of the page.
•Detailed history in the text section, however is the timeline finished? Research after 1970 needs to be completed.
•Glossary needs to be completed, and i’m not sure if you need the separate headings for each letter in the glossary as it spreads it all out a lot.
•Lots of the references are repeated
•Formatting of the page seems well done, I like the inclusion of the quote in the history section, maybe put the timeline into a table as this would make it more visually appealing
•The file Healthy Huntingtin protein and Huntingtin gene mutated by Huntington's Disease.jpg, does not have the correct copyright information for the student drawn images
•I like the inclusion of the video, but am not sure about the subheading choice for this section. Does the video need its own separate heading?
•Good balance of text and images
•A couple of the references seem to be missing some of the information, but you have a large number of references so it looks like a lot of research has gone into this, good work so far.
•The introduction lacks referencing and is a little short, but good use of the images to gain the attention of the reader though as I was reading it I would have preferred for the images to both be on the right hand side.
•The student drawn image on the right is not explained very well and does not contain the correct copyright information.
•Is the diagnosis section finished? It seems a little short and lacking in detail, maybe add some more information to this section, perhaps also an image to help build up this heading and make it more balanced with the other sections.
•Glossary is incomplete and should be in alphabetical order
•References are repeated, but good work on the research
•Overall I liked the formatting of the page, it is easy to read visually appealing and a good use of images to balance out the text.
•Very text heavy, perhaps an image in the introduction could be added to grab the attention of the reader and create a better balance between text and images.
•Also, there are no references in the introduction. The source of this information needs to be references properly.
•The history section is worded well, though it may be more visually appealing and better formatted in a timeline. Also it seems to stop at the 1950s period. Is there no other recent research or developments made that could be added to bring the timeline up to date?
•The epidemiology section is quite short
•Good description of the signs and symptoms and good use of external links in this section for further information
•I like the diagnostic tests table, although it is incomplete at the moment, when the images and other information is added then this section will be very well done. Just make sure that it is referenced properly though, because it seems to be lacking referencing at the moment.
•Glossary needs to be completed and a number of the references are repeated
•Good work overall, some sections just need to be fixed up and completed and some more images added, but the overall formatting seems fine.
•Good, concise introduction. Maybe add a picture if possible, just to grab the attention of the reader
•The history section does not seem to have many references for the amount of information included here. Nice timeline, easy to read and up to date
•Some of the sections are quite long, and the use of further subheadings within each section would help to break up the text and make it easier to read
•A couple of the images are quite large and disrupt the formatting and overall flow of the page. However, this is just a simple formatting problem and the images used are interesting and relate well to the information
•Maybe incorporate some of the external links into the relevant sections throughout the page
•Overall, the page seems well researched and by fixing up some of the formatting and subheading structure then the page will flow better overall and will be easier to read.
•Good job on the introduction and history, concise and easy to read. Also the image here is also good to break up the text.
•The timeline seems a little short however, is there anything else you can add after 1996?
•Make sure that all of the student drawn images have the correct copyright information. You need to make sure you have the correct template in the information for all of these images.
•I like the fact that you have bolded some of the words included in the reference but this isn’t consistent throughout all sections. This needs to be completed for all sections and all terms included in the glossary.
•Also, maybe incorporate some of the external links into the relevant sections throughout the page if possible.
•The references should be the last thing, underneath the glossary and external links
•Overall well researched and it seems to be well written, just some formatting and consistency problems, but good job so far.
•History might work better in a timeline, just to break up the text as the beginning of the page looks a little overwhelming with text.
•Make sure that all of the student drawn images have the correct copyright information. You need to make sure you have the correct template for all of the uploaded images.
•The different sections seem to be a little inconsistent, where a few of the sections such as diagnosis and treatment seem a little vague. These sections could be expanded on to give the reader a more comprehensive knowledge of what is involved, especially seeing as the diagnosis section only has one reference.
•Some typos in the smooth muscle section - ‘&&&’
•A lot of the references are repeated multiple times – this should be fixed up so that each reference only appears once. And also not all the references seem to be formatted correctly.
•Glossary is incomplete
•Overall, good use of subheadings though some of the sections need to be expanded and a few more images are needed to add a better balance to the page. Good work so far.
•Very short introduction with no references. Maybe give a greater overview of what will be talked about throughout the page.
•Good use of the picture in the timeline, but maybe this section and the history could be combined as it is quite long.
•Some of the pictures used, such as the second picture in the types of cleft palate section disrupt the formatting of the page. Also in the treatment section, the second image seems to be in the incorrect position.
•Quite a few sections lack referencing, particularly the genetic configuration and treatment sections that have no references at all. This does not provide the reader with the option to read on further or access the resources where you have collected your information from.
•Lots of references are repeated
•Overall, it seems like a lot of research has been done, though there are some formatting and referencing errors which will need to be corrected.
Lab Assessment 10
1. Besides fetal alcohol syndrome, identify another environmental teratogen that can lead to hearing loss.
Another environmental teratogen that can lead to hearing loss if congenital rubella syndrome (CRS).
2. Identify 3 factors that contribute to poor neonatal drainage of the middle ear.
Factors that contribute to poor neonatal drainage of the middle ear include the fact that the auditory tube is almost horizontal. Another factor contributing to the poor neonatal drainage of the middle ear is the shorter and narrower in the neonate than an adult auditory tube. Finally, the auditory tube in the neonate is opened through the contraction of the tensory palati muscle, compared to the adult auditory tube that is opened by two muscles, also by the levator palati muscle.
3. Identify 1 genetic abnormality that affects hearing development and link to the OMIM record.
Papillorenal Syndrome OMIM Entry #120330–Papillorenal Syndrome
Lab Assessment 11
1. Name the components that give rise to the interatrial septum and the passages that connect the right and left atria.
The components that give rise to the interatrial septum are out-growth of membranous tissue from the roof of the atrium which is formed from the myocardium differentiating from splanchnic mesoderm. The right of the septum primum gives rise to the muscular septum secundum and originates from the left-sided mesenchyme. The passages that connect the right and left atria are the foramen secundum and the foramen ovale.
2. Identify the cardiac defects that arise through abnormal development of the outflow tract
The cardiac defects that arise through abnormal development of the outflow tract are: pulmonary stenosis, interrupted aortic arch, aortic stenosis & coarctation of the aorta.
Group Project 9: Practise Formatting
|Gene||Normal Function||Relation to Williams Syndrome|
|Elastin (ELN)||Elastin is a main component of elastic fibres. It also contributes to the structure of connective tissue, particularly its flexibility and strength.||The loss of one copy of this gene reduces the normal production of elastin by half.
Elastin haploinsufficiency is responsible for a number of abnormalities characteristic of Williams Syndrome, particularly connective tissue abnormalities and cardiovascular disease including arterial stenosis. [PMID: 20425789].
|LIM domain kinase 1 (LIMK1)||Studies, such as Wang et al in 1998 [PMID: 9685409] suggest that LIMK1 is involved in the area of the brain that is in control of the visualisation of an object as a set of parts.
It has also been implicated in other visual tasks such as drawing, making models and writing.
|Studies differ in regards to the contribution of LIMK1 deletions to the phenotype expressed in Williams syndrome. Some studies have suggested that the loss of this gene leads to the problems with visuo-spatial tasks that are common in Williams syndrome. Other studies suggest that it is involved with the characteristic progressive loss of hearing, [PMID: 21655442] while other studies have not found these connections.|
|General transcription factor IIi (GTF2I||This gene is involved in the production of the following two proteins:
• BAP-135: involved in the normal function of the immune system • TFII-I: helps in the regulation of other genes activity and is therefore active in many tissues of the body, particularly in the brain.
|It has been suggested that the loss of one copy of this gene may be responsible for the intellectual disability seen in Williams syndrome. It may also be involved in the social characteristics of those with Williams syndrome.|