User:Z3290815

From Embryology

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)



Contents

Lab Attendance

--Z3290815 12:52, 28 July 2011 (EST)

--z3290815 11:05, 4 August 2011 (EST)

--z3290815 11:08, 11 August 2011 (EST)

--z3290815 11:01, 18 August 2011 (EST)

--z3290815 11:04, 25 August 2011 (EST)

--z3290815 11:03, 1 September 2011 (EST)

--z3290815 11:08, 15 September 2011 (EST)

--z3290815 12:52, 22 September 2011 (EST)

--z3290815 11:08, 29 September 2011 (EST)

--z3290815 11:04, 6 October 2011 (EST)

--z3290815 11:37, 13 October 2011 (EST)

--z3290815 11:21, 20 October 2011 (EST)

Lab 1: Assessment

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

In Vitro Fertilization is one technique used in Assisted Reproduction Technology (ART) in which fertilization occurs outside of the body. In Vitro Fertilization is given its name from Latin origins; In Vitro meaning “in glass”. This is referring to the test tubes in which fertilization occurs, hence, the colloquial term for IVF babies are “test tube babies”. The first successful birth of an IVF baby was named Louise Brown born in the United Kingdom on the 25th of July, 1978. The development of In Vitro Fertilization and the successful birth of Louise Brown were by Robert G. Edwards. Consequently he received the Nobel Prize in Physiology or Medicine in 2010 for his developments. Although it wasn’t until 1978 when the first successful IVF human birth occurred, IVF can be dated as far back as the 1980’s by Walter Heape. He was a professor and physician and had conducted research on reproduction in multiple animal species and reported the first known case of embryo transplantation in a rabbit.

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

The aim of this article[1] is to emphasize the advantages and the disadvantages of intracytoplasmic injection of sperm (ICSI) and how to maximise these potential benefits while minimising its complications. ICSI involves micromanipulation techniques involving the direct injection of spermatozoa into the oocyte.


Advantages:

  • ICSI helps males with severe infertility which cannot be amended through medicine or surgery the option to parent a genetically related child.
  • ICSI is used to alleviate severe male factor infertility due to the lack of sperm in the ejaculate due to severely impaired spermatogenesis.
  • Previously the primary treatment option for infertile men with obstructive azoospermia was vasovasostomy or vasoepididymostomy to reverse vasectomy.


Disadvantages:

  • There is increasing evidence of the involvement of genetic factors in male infertility and the potential risk of transmission of genetic disorders to the offspring.
  • A thorough genetic evaluation of the couple, classification of infertility and adequate counselling of the implications and associated risks prior to embarking on the procedure is necessary.

3. Identify 2 congenital anomalies.

A congenital anomaly is when there is something unusual or different at birth. This can be a minor anomaly whereby the anomaly has no serious medical or cosmetic concern or a major anomaly where there is a serious medical or cosmetic concern for example:

  • Atrial septal defect (ASD: form of congenital heart defect that enables blood flow between the left and right atria via the Interatrial septum.
  • Spina bifida: a developmental congenital disorder and neural tube defect caused by an incomplete closing of the embryonic neural tube.

Lab 2: Assessment

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

For fertilization to occur, the sperm must migrate through a layer of follicle cells and then bind to the egg coat called the zona pellucida. The crucial protein which allows the binding of a capacitated sperm to the zona pellucida is ZP3. As the binding is occurring, the sperm undergoes an acromosome reaction where exocytosis is released. This helps the sperm to maintain a tight binding to the zona pellucida while burrowing. Two mechanisms are in operation to block polyspermy from occurring (ensures that only one sperm fertilizes the egg); the primary block is the depolarization of the egg plasma membrane and the secondary block is provided by the egg cortical reaction.[2]

2. Identify a review and a research article related to your group topic.

Research Articles:

Congenital Hypomyelinating Neuropathy with Lethal Conduction Failure in Mice Carrying the Egr2 I268N Mutation[3]

  • Describes the engineering and characterisation of a mouse carrying the I268N mutation in Egr2.
  • The proper formation of myelin by Schwann cells requires a series of transcription factors including SOX10, SCIP/Oct6, Egr2, and Nab1/Nab2.
  • A loss of these transcription factors disrupts the myelination process, as does persistent overexpression.
  • This was observed in patients with recessively inherited Charcot–Marie–Tooth (CMT) disease type 4E, which is predicted to alter the ability of Egr2 to interact with the Nab transcriptional coregulatory proteins.
  • Charcot–Marie–Tooth disease (CMT) is a common inherited disorder of peripheral nerves characterized by progressive sensory loss and weakness beginning in the feet and legs, and later progressing to the hands
  • Mice homozygous for Egr2I268N developed a congenital hypomyelinating neuropathy similar to human counterparts.
  • Egr2I268N is expressed at normal levels in developing nerve but is unable to interact with Nab proteins or to properly activate transcription of target genes critical for proper peripheral myelin development.
  • Egr2I268N/I268N mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days. Nerve electrophysiology revealed conduction block, and neuromuscular junctions showed marked

Congenital hypomyelinating neuropathy[4]

  • Describes the symptoms of two patients with congenital hypomyelinating neuropathy
  • Hypotonia = low muscle tone (amount of tension or resistance to movement in a muscle)
  • Areflexia = absence of neurologic reflexes such as the knee jerk
  • Distal muscle weakness
  • Atrophy = wasting of a part of the body
  • Exceedingly slow nerve conduction velocities
  • Usually leading to early death or severe disability.
  • It contains great images of the histology of the condition as well as the actual patients
  • It contains a detailed recount of sural nerve biopsies of the patients
  • It compares the symptoms of congenital hypomyelinating neuropathy in Trembler mice as they are very similar to human symptoms


Review Article:

Congenital hypomyelinating neuropathy: two patients with long-term follow-up[5]

  • Review of previously reported cases of congenital hypomyelinating neuropathy (CHN) aswell as two unrelated females with CHN
  • The first patient is now 9 years old and has showed continual improvement of motor function even though her follow up nerve conduction velocities remained unchanged
  • The second patient is now 5 years old and has also showed continual motor function improvement since her first visit even though her follow up nerve conduction velocities also remained unchanged

Differentially expressed RefSeq genes in human trisomy 21


Differentially expressed RefSeq genes in human trisomy 21.jpg


File:Differentially expressed RefSeq genes in human trisomy 21

Lab 3: Assessment

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

Iodine[6] is an essential maternal dietary requirement for late neural development. Foetal thyroidogenes occurs by approximately the twelfth week of gestation and the foetal thyroid is capable of organifying iodine by approximately the 20th week of gestation. Before this time, maternal T4 is the only form of thyroid hormone that can traverse the placenta in small amounts. This must be adequate to meet the metabolic needs of the foetus.


Iodine deficiency remains the leading preventable cause of mental retardation worldwide.

Effects of Severe Iodine Deficiency:

  • Potential to cause both maternal and foetal hypothyroidism.
  • Poor obstetric outcomes including spontaneous abortion, prematurity, breech birth and stillbirth associated with adverse effects on the foetus including congenital anomalies, decreased intelligence, and neurological cretinism (which includes spasticity, deaf mutism, mental deficiency, and squint).
  • Linked to intellectual development in early childhood in the absence of overt mental retardation.
  • The IQ of iodine-sufficient children, on average, was 12.45 points higher.


Effects of Mild-to-Moderate Iodine Deficiency:

  • Less well understood than those of severe iodine deficiency but effects foetal neurodevelopment.
  • The infants with lower maternal fT4 had significantly lower psychomotor scores.
  • They found that lower maternal fT4 was associated with an increased risk of expressive language delay.
  • Significantly greater prevalence of attention deficit hyperactivity disorder (ADHD).
  • The IQ of iodine-sufficient children, on average, was 7 points higher.


The United States Institute of Medicine’s recommended daily allowance for iodine is 220mcg during pregnancy and 290mcg during lactation [20].

2. Upload a picture relating to you group project.

Hippocampal Formation.jpg

Figure 1: Hippocampal formation.[7]

Images of the hippocampal formation at the level of the lateral geniculate body from (A) patient 1 and (C) patient 3 show abnormal expansion of CA1 by increased numbers of pyramidal neurons. These are compared with the more usual hippocampal microarchitecture that shows a thinner linear band of neurons in CA1, as seen in (B) a 62-year-old male control. Haematoxylin and eosin, original magnification ×10; scale bar = 1 mm. Arrow indicates bulge/expansion composed of increased numbers of pyramidal cells in (A) patient 1 and (C) patient 3.

Copyright: 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.

File: Hippocampal_Formation

Lab 4: Assessment

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

The allantois is an endodermal evagination of the developing hindgut which collects liquid waste and exchange gases used by the embryo. Therefore the allantois is connected to the fetal bladder via the urachus.

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

  • Ductus arteriosus: is a shunt connecting the pulmonary artery to the aortic arch which allows most of the blood from the right ventricle to bypass the foetus's fluid-filled lungs.
  • Ductus venosus: shunts the blood flow of the umbilical vein directly to the inferior vena cava. To allow oxygenated blood from the placenta to bypass the liver.
  • Foramen ovale: allows highly oxygenated blood to communicate between the left and right atrium.

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

  • History
  • Epidemiology

Lab 5: Assessment

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

90% of foetal diaphragmatic hernias are found on the left side of the diaphragm. Depending on how large the hole is, the intestines, spleen, liver and/or stomach may move up into the chest cavity causing the lungs to develop poorly.

Lab 6: Assessment

1. What week of development do the palatal shelves fuse?

The primary palate fuses in the human embryo between week 6 and 7. The secondary palate fuses in week 9 of embryological development which requires the growth of the palatal shelves.

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

Both the chicken model and quail-chick chimeras were used as early animal models which helped explain the neural crest origin and migration of neural crest cells. Chicken embryo sequencing can show the migration of Dii-labelled neural crest cells towards the brachial arches and Nicole Le Douarin pioneered the quail-chick in the 1980’s as a way to study the migration path and final destination of transplanted neural crest cells.

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

If neural crests do not migrate to the cardiac outflow tract, than due to the reduction in number of cells added to the myocardium of the distal outflow tract, there will be a subsequent shortening of this tract. The shortened outflow tract leads to an altered cardiac looping. This malalignment of the outflow tract is seen as a dextroposed aorta which in babies, is classified as the congenital abnormality Tetralogy of Fallot[8].

Lab 7: Assessment

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

A study using ablation techniques on the gastrocnemius muscle of mice showed that even with the exposure to tamoxifen or the loss of satellite cells, the muscle did not alter the cell population. It also showed the same two-fold increase in the plantaris muscle weight. This suggests that satellite cells are not necessary for muscle hypertrophy. Satellite cells are however, involved in the regeneration of muscle growth with results suggesting that the muscle growth of the mice in the ablation group were significantly blunted in muscle depleted of satellite cells[9].

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

Muscle fibre type is controlled by several factors such as;

  • Impulse activity,
  • Neurotrophic factors
  • Spinal motoneurons
  • Myogenic factors
  • Physiological
  • Demand of the muscle
  • Hormones[10]

Therefore by inducing Chronic Low frequency stimulation (CLFS) of the nerves innervating fast twitch muscles, it induces satellite cell content and activity causing phenotypic changes causing the fibres to shift in type[11].

3. Trisomy 21 Peer Review

Introduction: The image here is lacking an appropriate title and is not properly cited. The text should give a brief overview of Trisomy 21 without overwhelming the audience with statistics. The definitions of “Down Syndrome” and “aneuploidy” would fit better under the glossary heading or made to fit into the text so that it does not disrupt the flow of reading.

Some recent findings: This subheading would be better suited towards the end of the page to allow the reader to obtain a good understanding of what Trisomy 21 actually is before jumping into recent findings. The content here though is very thorough and easy to read due to the bolded headings and the use of an image here is a great way to break up a big chunk of text.

Associated congenital abnormalities: This section could benefit by increasing the image size and including a title.

Heart defects and Limb defects: These sections could be merged under one subheading such as “defects” to continue the flow of reading.

Overall the content is there, just some rearranging of text and a punchier introduction will improve this page. The ratio of text to images is especially impressive but make sure that each image relates to its section and has proper titles and citing.

Lab 8: Assessment

Peer Review

Group 1:

  • The introduction is very thorough, however the use of too many statistics and scientific terms like “partial x monosomy” make it difficult to read, especially for an introduction. By hyper-linking the glossary terms or by using a simple explanation of the word in the sentence could help make this section more reader friendly.
  • The introduction also needs to be re-read to fix little mistakes such as those in the following sentences “The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome.” and “However, there still further research to be completed.” An image added to this section also wouldn’t hurt.
  • I would suggest that you play around with the placement of the images in the epidemiology section. Where they are placed now disrupts the flow of the text or leaves a large blank space between the next heading, which is also disruptive. The first image can be made a little larger and the second image does not have the correct copyright or title format.
  • The epidemiology section also needs to be proof read to fix little mistakes.
  • The etiology section is done very well, it is very easy to read and made easier with the hyper-links to the glossary.
  • Image 1 under etiology is missing “{{Template:2011 Student Image}}” and image 2 has a little mistake in the explanation “Complete absence of on effected of the X sex chromosomes...” and needs to be moved slightly so that it doesn’t indent the next heading.
  • Nice referencing in the clinical manifestation section although the symptoms need to be explained more. What is it? What are the implications of it? A picture could be useful where text can’t explain a symptom.
  • Diagnostic procedures section is done very well. Good balance between images, text and tables however all the images need to include“{{Template:2011 Student Image}}”. Very good student drawn images and explained very well – I didn’t even realise they were student drawn until I read that they were! Hyper-linking to the glossary is also a bonus.
  • Treatment is done well especially by breaking up the text into sub-headings, some spelling mistakes though such as “Also if convex gorwth of toenails”.
  • Research is very informative but by bolding the reference, it makes it hard to follow and read. Maybe if you include a space in between the findings of the paper or a table could help this section.
  • The reference section needs to be fixed as references should not be listed more than once under the reference section. Read the section on “multiple referencing” under “editing basics”.

Group 2:

  • The introduction is very easy to read and is accompanied by a great image, although this image should include a legend. It would be beneficial to link the image with the symptoms mentioned in the intro and to only mention a couple of important symptoms instead of listing them all here and having to repeat yourself later on.
  • Very extensive historical background. Very impressive and well referenced. Image needs to include a legend.
  • Epidemiology needs to be proof read as there are a couple of little mistakes that lessen the value of what is a really well researched section; “Due to the fact that 22q11.2 deletions can also resulting in signs that...”, “It has been well documented that there individuals who...” and “which may be resultant form a learning dysfunction or heart disease.”
  • Etiology is also done well and is very comprehensive, however there is a spelling mistake “interstital deletions of chromosome 22” so make sure you re-read this section too.
  • An image either in epidemiology or etiology would help break up a huge chunk of text.
  • Pathogenesis/Pathophysiology section is very strong with great student drawn images relevant to the text. Only suggestion is to hyperlink glossary terms since there are a lot of terms in this section which need to be explained further.
  • Diagnostic Test section is done well with a well formatted table making it easy to read. Some images are missing as I’m sure you’re aware of and make sure to include “{{Template:2011 Student Image}}” for these images.
  • Clinical manifestations; perhaps the table describing the symptoms could immediately proceed after “The most common signs and symptoms include:” instead of having the symptoms in dot points and repeated twice. The student drawn image may benefit from pointing out that A is at rest and B is during normal speech – just to clarify. I also noticed a spelling mistake “In more severs cases..” so just make sure you go over this section with a fine comb.
  • Treatment also had a couple of little mistakes for example “and consult various specialists, from example a cardiologist”. A legend for the images here would improve this section.
  • Current and future research is very extensive and well researched.

Hats off to you guys!

Group 3:

  • The introduction is very lengthy, some parts feel as though they would be more appropriate in other sections. The image here fits nicely with the text but it could benefit from a more descriptive legend and needs to include “{{Template:2011 Student Image}}”.
  • In the history, you begin to use the short hand “KS” without an initially stating that this is the abbreviation for “Klinefelters syndrome (KS)”. The dates that are mentioned are very detailed although it ends in 1970, were there any other breakthroughs since then? A picture of Klinefelter would be a nice touch here.
  • Epidemiology requires some proof reading as there are a couple of little mistakes and the images would have more of an impact if they were slightly larger.
  • I like how you have linked figure 1 to the non-disjunction sub-heading under aetiology. The image in this section could benefit from a coloured legend, ie. Instead of saying “Blue circles are male cells”, in a box include an actual blue circle = male cells along with the other descriptions. It also needs to be properly cited.
  • There is too much repetition between pathogenesis and aetiology, maybe discussion between these two students is needed to minimise repetition. Good hand drawn images but you need to include the student template as mentioned previously.
  • Signs and symptoms would look better in a coloured table and with more images. I don’t think it is necessary to repeat the image comparing age and intellect here.
  • Diagnosis; nice use of another form of media – a video. The abbreviation of KS in this section needs to be established first by placing KS after the first time you mention Klinefelters syndrome.
  • Management is very concise and thorough
  • Other similar defects; nice touch, it could look more appealing with the use of colour and larger images though.
  • Current research is formatted nicely and flows well

Group 4:

  • The introduction provides a great overview but remember it needs to be easy to read, even for those who have never heard of Huntington’s disease. If you explain scientific and medical terms (such as neurodegenerative and CAG trinucleotide tract) more generally/broadly, it will solve this problem.
  • History: great use of a quote and image. The timeline would look better and make it easier to read if the dates were bolded or if it were in a table. The explanations could be elaborated more such as “1900: Mendel’s work was rediscovered”. Image needs to include “{{Template:2011 Student Image}}”.
  • Epidemiology: Although you’ve stated that Venezuela and North Ireland have notably high prevalence of this disease, you haven’t stated the actual prevalence of Venezuela. You also need to re-read this section as there are a couple of mistakes eg “There seem to be an increased prevalence of Huntington's disease...” and this sentence doesn’t make sense “Two of the most well-known populations in which high prevalence of HD was notably in the state of Zulia, Venezuela and Northern Ireland”. What are HTTP haplotypes?, overall I found the explanation of the paper by Warby et al hard to understand, maybe another attempt of explaining this paper is needed by spelling out the haplotypes even more so. In saying this, the tables are formatted very nicely.
  • Genetics: Nice student drawn images but just make sure you include the student template as mentioned above. The “Huntingtin Gene” section would benefit from an image of the specific regions on the chromosome as it is hard to follow with just text.
  • Molecular mechanisms and pathogenesis: a lot to take on but is made easier to read through the use of good sub-headings and highlighted words and large image. Make sure you include the student template here as well and there is an image missing in this section though.
  • Clinical manifestations: You have mentioned 3 classes of symptoms but have only gone into detail about one of them; motor movement impairment. What happened to cognitive and behavioural explanations? Nice student drawn image, I like how it is oriented to the left to change it up a bit.
  • Diagnostic test: The table could be formatted with more colour to make it more aesthetically pleasing. I personally don’t understand including an image of another disease, i would stick to images specifically relating to HD.
  • Under neuropathogy there is a little typo “The neuropathological hallmark of Huntington’s disease is now know to be the gradual loss of spiny GABAergic...”, there could be more so i would advise to check this section again.
  • Under genetic testing there is also another little typo “However it wasn’t until the 1993 when...”
  • Treatment and future research: very well researched and I really liked the use of the table and images here, it provides great balance and flow.

Group 6:

  • Introduction: Maybe briefly explain the symptoms and the physiological implications of a tet spell and what palliative care is, alternatively hyperlink these words to the signs and symptoms and treatment sections. There are also a few mistakes such as no space after commas “chromosomes 5,20 and 25.” and an incorrect capital letter after a comma “TOF patients include, Infants turning blue”, just make sure to correct these little mistakes by re-reading this section. An image here would also be good.
  • History: The history you do have is very comprehensive and easy to read, however the dates get lost in amongst the text. If you bold the dates or include a brief table after the text it will help the reader to track the history better.
  • Epidemiology: Very short, could you maybe elaborate to why TOF affects slightly more males than females?
  • Signs and symptoms; the information here is very good, it could be improved with the use of more images. I’m not sure if it’s just me or not but I couldn’t hear anything in the normal heart video but the TOF heart video was fine?
  • Genetics: This section genuinely scared me, it is a lot of text and a lot of scientific text at that. I found it difficult to read and ended up skipping over this section. Maybe try explaining the genes in your own words. The images do help though so maybe make them bigger. I did find a little typo “gene taht results to TOF” so make sure you proof read once you’ve edited again.
  • Pathophysiology and abnormalities is done really well with great visual aids (second image needs to include “{{Template:2011 Student Image}}”). Only suggestion is to leave the sub-headings just bold - no need for italics.
  • Diagnosis is obviously unfinished but once the images have been added, the blank text has been filled and some colour is added to the table, I think it will be a great section.
  • Treatment and management: The image here is also missing the student template. Spelling mistakes found so proof reading is required “oxygen & intravenous morphine to provides more blood flow”. The table here could be coloured to liven up the page.
  • Prognosis is done well but maybe a pie graph could be inserted to show the major causes of death in surgically untreated patients as a visual.
  • Future directions is also very good – the referencing just needs to be fixed.

Group 7:

  • Introduction may be a little short but I think it’s to the point. It does need some sort of a visual though, especially because the next two sections are also lacking images.
  • History is very interesting. I like how you have incorporated a table to summarize the text. A portrait of Harry Angelman or the oil painting of “a Boy with a Puppet” would fit nicely here.
  • Epidemiology needs more content.
  • Etiology also needs more content or at least elaboration on what content is already there. I believe that the 4 major genetic mechanisms aren’t explained well at all. The student drawn image is really good though.
  • Pathogenesis section is very good, although it is a lot to take on board it has been complimented very well by the addition of very clear student drawn images. The placement of the images needs to be reconsidered, especially since it disrupts the signs and symptoms heading.
  • Signs and symptoms; the table lets this section down, I don’t quite understand the headings of the table and where the content in the table ends because it merges with the reference. Maybe use dot points or add a second colour, add outlines and bold the headings? The rest of this section is done really well with very interesting text balanced well with the images. Just make sure to re-read this section as there was a spelling mistake noticed in the last line “Whit age, patients gain...”
  • Complication: if there aren’t any other complications I would suggest maybe moving this section to fit under signs and symptoms? It is interesting and worth keeping but it’s too short to be on its own.
  • Diagnosis: the formatting of this section needs tweaking to make it easier to read. I understand that the first image relates to prenatal diagnosis but the terms within the flow chart aren’t explained yet so it’s hard to follow. If you align this image to the left of the text and include a title for the image “Flow chart summarizing prenatal diagnosis of Angelman’s Syndrome” than this could solve this. This image also needs a proper citation. The second image is broken and the third would be better placed on the left as well.
  • Related diseases is too short, either add to it or merge it into another section (it could fit under prognosis if you create the right segue-way).
  • Treatment and management is fine, maybe bold the headings of the table.
  • Prognosis is ok, maybe a little short.
  • Genetic counselling is again too short and doesn’t really make sense. You need to explain the table first and connect it to genetic counselling. You shouldn’t repeat information either.
  • Current and future research is fine.

Group 8:

  • Introduction: gives a very good, short and broad overview of the disease and links nicely with the history which is also very informative. These sections are very easy to read and I like how the picture connects the two sections furthermore.
  • Epidemiology is well researched and covers all aspects. It could benefit from the use of a table or graph to break up the text but otherwise this is a very good section.
  • Etiology: Student drawn image needs to include proper referencing and it is a little hard to see; maybe you could fiddle with the contrast or go over it with a sharpie. A few mistakes noticed; Is this meant to be ‘some’, “In same cases, this...”?, “As already mentionned,” and “...investigated in mouse embroys,” so make sure that this section is proof read. Overall this section is very good and extensive.
  • Pathogenesis is done well, great image to balance out text.
  • Neuropathology: Very impressive student drawn images, although, some need more of an explanation of the drawing. This images compliment the well researched text very well. Good job!
  • Clinical presentation: Good balance between images (could be a little larger), text and tables – it really maintains the reader’s attention.
  • Diagnosis: Very impressive table, it is easy to read and not cluttered with too much text, I like the colour choice and I love the use of images and videos – it really consolidates everything. It is good that the table under postnatal diagnosis matches the colour scheme of the one above as it creates cohesion, however, it would look better centred in my opinion.
  • Treatment: Very good
  • Current research: A few key points and sentences from each paper would be nice to make this section feel more complete.


Group 9:

Group 10:

Group 11:

Lab 9: Assessment

N/A

Lab 10: Assessment

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

The rubella virus (German measles) is capable of causing congenital malformations and is therefore classified as a teratogen by damaging the developing ear, heart and eye. The clinical manifestations of this teratogen include hearing defects (perceptive or sensorineural deafness), congenital heart disease with or without mental retardation and cataracts which are collectively termed as the rubella syndrome[12].

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

The inner ear is connected to the back of the throat via the Eustachian tube (auditory tube). This tube equalizes air pressure and drains fluid; however neonatal drainage of the middle ear is poor due to these three factors:

  • The neonatal auditory tube is twice as short as the adult tube (only 17-18mm)
  • The neonatal auditory tube is narrower and runs almost horizontal inhibiting drainage
  • The tube is only opened by a single muscle, the tensor palati muscle as opposed to both tensor palati and levator palati in the adult auditory tube.

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)

Alport Syndrome causes sensorineural hearing loss as well as nephritis which often progresses to renal failure. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive and therefore, autosomal dominant inheritance is rare.

[OMIM – Alport Syndrome, autosomal dominant]

Lab 11: Assessment

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

Interatrial septation occurs through the septum primum (membranous tissue) which grows from the roof of the atrium towards the endocardial cushion. The septum primum divides the atrium into two chambers, forming the left and right atria. The blood is then able to flow through the space formed between the septum primum and endocardial cushion called the foramen primum to which perforations within the septum form another passage way called the foramen secundum. \a second septation occurs immediately to the right of the septum primum called the septum secondum and the space between these septa is called the foramen ovale.

Intermediate - Atrial Ventricular Septation

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

Abnormal development of the cardiac outflow tract can lead to multiple cardiac defects including:

  • Ventricular Septal Defect (VSD)
  • Double Outlet Right Ventricle
  • Aortic Stenosis
  • Interrupted Aortic Arch

Advanced - Abnormalities

Lab 12: Assessment

References

  1. <pubmed>21716935</pubmed>
  2. B. Alberts, A. Johnson, J. Lewis, et al. Fertilization. Molecular Biology of the Cell. 4th edition. http://www.ncbi.nlm.nih.gov/books/NBK26843/
  3. <pubmed>19244508</pubmed>
  4. <pubmed>10207934</pubmed>
  5. <pubmed>4087003</pubmed>
  6. <pubmed>21765996</pubmed>
  7. <pubmed>21303513</pubmed>
  8. http://circ.ahajournals.org/content/106/4/504.full.pdf
  9. <pubmed>21828094</pubmed>
  10. <pubmed>1295870</pubmed>
  11. <pubmed>16439424</pubmed>
  12. <pubmed>4992488</pubmed>