User:Z3331556

Attendance

--Z3331556 12:55, 28 July 2011 (EST)

--z3331556 11:57, 4 August 2011 (EST)

--z3331556 12:14, 11 August 2011 (EST)

--z3331556 11:09, 18 August 2011 (EST)

--z3331556 12:30, 25 August 2011 (EST)

--z3331556 11:16, 1 September 2011 (EST)

--z3331556 11:52, 15 September 2011 (EST)

--z3331556 11:36, 22 September 2011 (EST)

Lab 1

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

The first successful IVF occurred in the UK in 1978 and Robert G. Edwards was awarded the Nobel Prize for this technique in 2010.Lecture - 2011 Course Introduction

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

"Improved pregnancy rate with administration of hCG after intrauterine insemination: a pilot study" by Ilkka Y Järvelä, Juha S Tapanainen and Hannu Martikainen. Published on 23 February 2010 by Reproductive Biology and Endocrinology journal. They found that Intrauterine insemination (IUI), a common fertility treatment, improved pregnancy rate when hCG (human chorionic gonadotrophin)was administered after instead of before IUI. Pregnancy rates were 10.9% when hCG was given before IUI and 19.6% when hCG was given after IUI.[1]

3. Identify 2 congenital anomalies.

-Trisomy 21 (Down Syndrome) occurs when an extra copy of chromosome 21 is present

-Myelodysplasia (Spina bifida) is a condition where the fetus' spin fails to close in the first few months of pregnancy

--Mark Hill 10:10, 3 August 2011 (EST) These answers are fine.

Lab 2

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

The ZP protein that spermatozoa binds to is ZP3, when this occurs an Acrosome Reaction results where the head of the spermatozoa releases enzymes from the acrosomal vesicle (via exocytosis) which digests this protective coating of the egg (ZP3)[2] and exposes ZP2 to surface proteins of sperm Lecture - Fertilization

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

PRIMARY ARTICLE

PLoS One. 2010 Apr 21;5(4):e10292. Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR. Source

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.

Abstract Although genetics is the most significant known determinant of human intelligence, specific gene contributions remain largely unknown. To accelerate understanding in this area, we have taken a new approach by studying the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23. We find that variation in the transcript levels of the brain gene STX1A correlates significantly with intelligence in WS patients measured by principal component analysis (PCA) of standardized WAIS-R subtests, r = 0.40 (Pearson correlation, Bonferroni corrected p-value = 0.007), accounting for 15.6% of the cognitive variation. These results suggest that syntaxin 1A, a neuronal regulator of presynaptic vesicle release, may play a role in WS and be a component of the cellular pathway determining human intelligence.

PMID:20422020 [3]

• Williams Syndrome presents with a distinct pattern of intellectual disabilities that differ from normal on subtests of the WAIS-R (Wechsler Adult Intelligence Scale-Revised). Found that relative to their overall performance, WS subjects tended to do well in tests of vocabulary (Vocabulary) and abstract reasoning (Similarities, Picture Arrangement), and poorly in tests of numeracy (Arithmetic), visual-spatial (Digit Symbol, Block Design, Object Assembly), and memory (Digit Span)

• Gene expression in the tissue of interest (brain) is not possible so quantitated gene expression in lymphoblastoid (LB) cell lines

• STX1A is best known as an important component of the presynaptic SNARE complex involved in priming of synaptic vesicles for release.

• Data indicate that peripheral STX1A expression levels measured in lymphoblastoid cell lines strictly grown, is related to an emergent property of the CNS, intelligence.[4]

REVIEW ARTICLE

Arch Pediatr. 2009 Mar;16(3):273-82. Epub 2008 Dec 18. [Williams-Beuren syndrome: a multidisciplinary approach]. [Article in French] Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B. Source

Laboratoire langage, mémoire et développement cognitif, CNRS, UMR 6215, 99, avenue du Recteur-Pineau, 86000 Poitiers, France. agnes.lacroix@uhb.fr

Abstract Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extracellular matrix. Developmental disorders usually associate an atypical face, cardiovascular malformations (most often supravalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociability. Other less known or rarer features, such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) the different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of an opposite syndrome stemming from a microduplication of the 7q11.23 locus, (ii) the clinical features in children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning.

PMID:19097873 [5]

Lab 3

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

Iodine is an important maternal dietary requirement for late neural development as a severe deficiency of this mineral during pregnancy seriously influences fetal brain development and in the worst case leads to cretinism, a decreased thyroid hormone production that has multiple complications. Recent studies have shown that even a mild iodine deficiency during pregnancy and during the first years of life adversely affects brain development. The World Health Organisation (WHO) considers iodine deficiency as the most common preventable cause of early childhood mental deficiency.[6] [7]

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.

Differentially expressed RefSeq genes in human trisomy 21

Lab 4

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

The allantois of the placental cord is an extra-embryonic membrane, that originates from the endodermal layer of the trilaminar embryo and extends from the early hindgut. Placenta Development

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

• Ductus venosus - between the umbilical vein and the inferior vena cava
• Foramen ovale - between the right and left atrium
• Ductus arteriosus - between the pulmonary artery and descending aorta

These shunts redirect oxygenated blood away from the lungs, liver and kidneys as these major organ's functions are run by the placenta at this point of the fetus' development Intermediate - Vascular Overview

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

Introduction

History of the disease

Etiology

Diagnosis

Genetic Factors

Physical Characteristics

Associated medical conditions

Cognitive, Behavioural and Neurological Problems

Epidemiology

Management/treatment

Specialized Facilities/ supportive associations

Case studies

Interesting facts

Current research and developments

Lab 5

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

Approximately 70 to 90% of Diaphragmatic hernias are 'Bochdalek-type,' or posterolateral hernias, most often occurring on the left posterolateral side. This is because the left pleuro-peritoneal canal is larger than the right, and therefore closing of this side occurs slightly later, hence more chance of hernia occurring on this side. [8] [9]

Lab 6

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

The palatal shelves fuse in week 9 of development. This process requires the a growth and elevation of the palatal shelves before fusing in the midline Lecture - Head Development

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

Chicken embryo model. Neural crest development has been best studied in avian embryos as they can be subject to "surgical manipulation, cell marking techniques, cell culture, and transgenesis by electroporation and retrovirally mediate gene transfer" [10]

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

Cranial neural crest cells extending from the auditory placode to somite 3 migrate to the outflow tract of the heart to participate in aorticopulmonary and truncal septation in the chick embryo. Surgical removal of these premigratory cells results in a high incidence of persistent truncus arteriosus [11] Failure of the outflow septum to form results in persistent truncus arteriosus, a condition in which there is a single outflow vessel with a single valve. [12]

Lab 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 necessary

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

Chronic Low Frequency Stimulation (CLFS) is a standard, reproducible model of muscle training that parallels the stimulation of slow-twitch muscles by slow motoneurons. This artificial type of nerve innervation induces the sequential transitions in myosin heavy chain (MHC)expression, ultimately resulting in the transition of fast twitch to slow twitch fibres. [13] Fast-to-slow fibre-type transitions are associated with increases in satellite cell activation, content and fusion to transforming fibres. CLFS stimulates satellite cell proliferation and hence causing a fast to slow fibre type shift. [14]

Trisomy 21 Peer assessment

• hyper-link words to glossary is useful, this should be done for Aneuploidy instead of listing it in the intro
• Down Syndrome is the historic name used for this condition identified by Down, J.L.H. in a 1866 paper[1] where he described the "phenotypic features that includes mental retardation and characteristic facies". --this sentence could be incorporated in the opening paragraph so intro can flow better
• Maybe recent findings could go toward the end, just so we get more of an idea of what the features of Trisomy 21 are first, also quotes directly from the article shouldn't be the main focus of this section, it would be better to summarise the findings in your own words
• Some of the images need to be referenced properly, some contain no copyright clearance statement
• More info needed for Associated Congenital Abnormalities section, not just a list
• heart defects section has not been referenced, where have the figures come from?, more description of these conditions are needed not just the definition, maybe include what how this abnormality is manifested, also percentages could be better displayed in a table, the same could be done for the limb defects section
• Image of John Langdon Down appears to be in an odd place, should go around intro when he is mentioned
• Prevalence could appear toward the beginning, the definition of prevalence could also be a hyper-link to glossary instead of including it in the body of project, might want to include the prevalence of down syndrome in Australia, this may be better formatted in a table
• American College of Obstetricians and Gynecologists Recommendations section has some good information, however, it may be better to put this under a broader subheading (e.g. management/or diagnosis) maybe a good idea to combine it with Down syndrome screening
• Screening could also be better formatted in a table with a little more description about how these screenings are conducted
• Miosis I and II shouldn't really be a heading on its own, maybe better to incorporate it with recent findings.
• Aneuploidy also should not be a heading on its own this can be included as a glossary term
• Again a whole section dedicated to growth charts doesn't seem right, good info but could be incorporated into a broader heading
• I also feel there's info missing from the page, like maybe some the physical characteristics of Trisomy 21 i.e facial abnormalities
• reference list: i like the idea of splitting up the different kinds of sources used, however this needs to be refined as it is a bit confusing

Lab 8

Peer Assessments

GROUP 1: Turner Syndrome

• Introduction is informative and well summarised, however a few sentences are a bit lengthy and can be better structured so paragraphs flow easily. e.g. "It is caused by complete or partial X monosomy in some or all cells and occurs in approximately 1 in 2000 live female births, however the morbidity rate of spontaneous abortions is 10% and only about 1% of fetuses survive to term." can be better structured. In addition there are several spelling mistakes that are distracting e.g. "The affected organ systems and tissues may are effected to a lesser or greater extent amongst that are affected by turner syndrome" - this sentence doesn't make sense at all
• You may also want to incorporate an image to break up the text in the intro
• One of the requirements for the group project is to include the history of the disease, the intro contains very minimal background information but besides this there's no evidence of research into how this disease was discovered and developments in its understanding
• The image beside epidemiology is obstructing the break up of the introduction and epidemiology, you may want to fix this. This image may also be better if made a little bigger
• The prevalence is repeated in both intro and epidemiology, maybe just mention it in just one section
• Epidemiology info is very informative but really needs to be proof read, this lets down the whole section. Some of the sentences contain spelling mistakes and grammar needs to be reviewed e.g. "The phenotype of Turner Syndrome is varies but it involves anomalies of the sex chromosome" and "Turner Syndrome can be transmitted from mother to daughter, and thus can it could be described as a heredity linked syndrome"
• "The remaining third have structural abnormalities of the X chromosomes, and two thirds are mosaics. Whereby, the maternal X is retained in two-thirds of women and the paternal X in the remainder." - sentences like this need to be fixed to make more sense
• Some sentences are also very abrupt and short, could be revised so they flow more
• The Karyotype image is incorrectly referenced and does not contain the copyright clearance statement, this needs to be fixed
• The abnormalities graph really needs fixing, not correctly referenced, no copyright clearance statement and title isn't very descriptive
• I really like how the words relevant to this syndrome are linked to the glossary, this really helps the reader, saving us from having to scroll down to the bottom of the page. This could be applied to the whole page
• The non-disjunction image is informative but needs to be properly referenced
• The info in etiology is very informative and comprehensive, but again grammar is a problem e.g. "When an uneven distribution is such that one of the gametes does not have any of a chromosome" -consider revising this sentence
• The image 22+23=45 could be better placed so that it doesn't overlap into the next section
• The clinical manifestations section has an extensive list, but could be improved by maybe having a paragraph or two describing these not just a link to a reference, an image of some of these manifestations may also enhance this section
• The diagnosis section has a good balance of text and image and there is great use of tables. Also the links to the glossary again is helpful
• maybe consider making the images in the table a little smaller
• Student drawn images are included and comprehensive
• Treatment and research sections are succinct and informative, easy to go through
• I really like the way the glossary is formatted, makes it very easy to access
• The extensive reference list is impressive and indicative that a lot of research has gone into this page

Over all:

• There really needs to be thorough proof reading to correct grammar, better structure your sentences, and generally make better sense of some sentences, this particularly applies to epidemiology section
• You should also fix the referencing of the images, copyright statements are missing

GROUP 2: DiGeorge Syndrome

• I don't know if the congenital disorder definition is needed in the intro, maybe you can included in the glossary instead
• The image in the intro could use a legend
• Info in the intro is comprehensive and informative
• History section has got good, succinct information and i like the fact that it goes up to 2011, however maybe you can consider putting the timeline in a table. Image could also have a legend
• Epidemiology has been researched relatively well, info is comprehensive and flows well, however, could be improved with a graph of some sort to accompany info with a visual
• Etiology contains very descriptive, informative info, could be improved with an image of the chromosome and the area of deletion
• It would be a good idea if the acronyms are included in the glossary
• It is evident that the Pathogenesis/Pathophysiology section has been very well researched, maybe the "genes involved in DiGeorge syndrome" section could be formatted in a table
• The use of a table in Diagnostic tests is succinct and informative. You should check for spelling mistakes (Dianostic Tests is spelt wrong), images to accompany these tests are useful, however, again a legend for each of these would be help
• Image missing in the Amniocentesis part of diagnosis
• I don't know if the image link for BACS- on beads technology is really helpful
• Clinical manifestations has clearly been researched extesively, however, this section is very overwhelming,too much text in my opinion. It would be easier to read if it was summarised more, a graph may be helpful
• Treatment section is comprehensive and summarised well
• I have found that incidence has been mentioned in quite a few sections, is this really necessary? Can it just be mentioned in epidemiology?
• Current and future has got some good info but it is quite lengthy and could be better to summerise it a bit more so u don't lose the reader
• The last two images need to be referenced properly, with the template and correct referencing

Overall:

• The whole project has been researched very well
• Some of the images could use legends to describe what they are about and you could also consider moving the images around a bit so there's variety and making some of them a little bigger so their features can be seen
• Maybe acronyms could be included in the glossary
• some sections could be reviewed and info could be condensed
• references need to be reviewed and correctly structured (some work on this is required)
• You could improve this project by also linking the glossary terms to the text to make it easier to access, also some graphs could be used

GROUP 3: Klinefelter's Syndrome

• I feel that the introduction is too lengthy, it should be summarised a little more. Although the info is informative, its structure is poor- grammar and punctuation should be reviewed and sentence structure could be improved
• Figure 1 could use a more descriptive legend

Overall:

• Reference list needs some work, some of the references have been repeated