Sunday, July 30, 2017

A Husband's Culinary Gauntlet (Guest blog)

Pumpkin & FettaFreeform Tart


My wife often says that the careful preparation of a delicious meal is one of the main ways in which we can express our affection for those we love. I have, of course, phrased this inadequately. She blogs about food regularly, and her turn of phrase is at once eloquent, humorous and sensual. Food is an expression of her very being, her knowledge of it both holistic and wholesome.
Anyone who has eaten at her table could have no doubts about this.

I am not so gifted. I have, on occasion, made the attempt, but more often than not the results are… lacking. I fantasise that she breathes in the aroma of the meal I have prepared, her anticipation builds. She lifts the fork to her mouth and tastes the delicate, complex flavours I have prepared. Her eyes close. She contemplates. Then she looks at me in that way, the look I hope to see every day. The conversation flows easily and the meal is over almost too soon, yet a perfect satiety has been reached.

But that’s a fantasy. Far more often, the meal is served late at the hands of a somewhat stressed and flustered husband. I somehow lack the finesse and grace that she has in the kitchen. Like all true masters, she makes it appear effortless. The dish looks nothing like the glossy pictures in the cookbook (which my wife rarely refers to and I cling to my breast, the one flotation device in the endless culinary ocean on which I drift). The various components of my meal are served at various temperatures and states of caramelisation. The combination of carefully slaved over ingredients has descended into a pallid, flaccid mess. My wife bravely swallows the first mouthful, and surreptitiously reaches for the salt. I have failed to arouse the ardent passion I was aiming for.

Yet, like Sisyphus, my task is never done. Of course, Sisyphus is an imperfect simile. This is no punishment, but it is certainly possible that my tale of woe shall stretch on into eternity. I shall not, however, be dismayed. Once more into the breach dear friends! The love I have for my wife shall be communicated through victuals, though chefs may weep and die upon the journey!

The tale starts this evening with my patented lava muffins. They are like lava cakes, but without the molten chocolate goodness flowing forth. Lava cakes were invented by Schroedinger – as long as they remain uneaten, they exist in potentia as lava cakes. As one slices into the small, perfectly shaped brown mound, they transform themselves into muffins. In and of themselves, lovely. Nothing wrong with them. But misnamed and disappointing when one I imagines a steaming, crumbly cake with a river of thick chocolate running out like a waterfall of ecstasy. Note to self: 15 minutes is too long in the oven.

Tomorrow, the tart. Preparation has already begun, as this meal shall be prepared around the rigorous timetable of 5 year old birthday parties.

First, the pastry.
1 ¼ cups of plain flour
½ teaspoon of sea salt flakes
125g cold cream cheese, chopped
1 free-range eggs
1 tablespoon cold water, approximately
(approximately? WTF?)

Place all the ingredients into the food processor, which broke about a month ago and I ingeniously repaired with superglue. Turn the knob of said food processor to begin pulsing process and produce a finely crumbed mixture of cream cheese and flour, developing into a soft, silky dough thereafter. Stare at the food processor in confusion as your amazing repair job fails almost instantly and the food processor produces nothing but a loud whining noise as the motor revs out of control. Panic momentarily, and wait for inspiration to strike, and then desperately rummage through THAT drawer in the kitchen (you know the one) until you find the beater attachment for the kitchen aid. This seems to be a reasonable replacement for the food processor. Empty the almost completely uncombined ingredients from the food processor into the kitchen aid, thereby ensuring that the ratio of ingredients is completely unreliable.

We are now, due to the failure of technology, making pastry cake. Turn on the kitchen aid. Watch hopefully as the beater attachments shred the lumps of cream cheese into the flour. Raise your eyebrow quizzically at the bell like ‘ting’ sound before realising that a fragment of the food processor drive shaft has become incorporated into the mix and is being ricocheted from the beater attachments of the kitchen aid. Remove said fragment.
When the cream cheese has been reduced to the crumb like consistency you were hoping for, remove the mixing bowl and begin kneading the dough by hand. You may be vaguely worried by the inconsistent yellow streaks weaving their way through the dough, where the egg has failed to combine correctly. Ignore this and keep going. You may at some point realise that the mixture is too dry. At this point add one more tablespoon of water. Approximately one tablespoon, it turns out, means two.

At this point you will hopefully have something that resembles dough. Your spirits will rise, and you may think to yourself that you have managed it, despite the odds. You will be wrong. On closer inspection, you will see that there are particles of… something…permeating the dough. These particles are delightfully refractive and add a certain something to the dough. After consulting with your wife, you will find that the certain something that has been added to the dough is unidentified contamination from god knows where and a sticky, eggy dough lump of uselessness. Throw it out.

Begin to ask your wife how to make pastry without a food processor, but then stop and realise that undermines the entire point of the exercise. Instead, turn to that last bastion of hope for pathetic losers everywhere – google. There you will find a video of a young perky woman with an incredibly annoying American accent who will inform you that the whole process is incredibly easy and you should have used the blender, not the kitchen aid. Celebrate the fact that you bought a blender two Christmases ago, and put the whole thing in the too hard basket until the morning as the blender you bought is made of construction grade materials and operates at the volume of a jackhammer. As the 5 year old has gone to bed, we are now in sacred time and endangering this by engaging in activities that may awaken said small person are considered heresy.

Instead, begin preparing the vegetables to top the tart.

800g Japanese pumpkin, cut into 3 cm pieces
2 medium red onions, cut into wedges
2 teaspoons of fresh thyme leaves
1 tablespoon olive oil

Since you bought a butternut pumpkin, use that instead. Cut the pumpkin in half and carefully slice the skin off. Weigh the pumpkin carefully. Make sure that your wife comes into the kitchen at this moment to see you weighing the pumpkin and look at you strangely, and comment of the fact that you are in fact weighing a pumpkin that you intend to cut up and roast. It is important at this point to murmur something incoherent about not having cooked it before and following the recipe carefully.

Slice the tower of butternut pumpkin every three centimetres, then cut each slice into 8 wedges. Be prepared, your wife may rib you for the OCD way in which you incorporate geometry and order into the chaos. Put two thirds of the pumpkin into a baking tray, then realise that they are not all going to fit and find a larger baking tray. It is important to create as much washing up as possible, as this gives the illusion that you are cooking something difficult and complicated, leading to your spouse being more impressed.

Cut the onion into wedges, which will promptly fall apart, and place their reconstructed corpses carefully into the baking tray. Liberally and nonchalantly toss sprigs of thyme over the vegetables to create an artistic effect. Drizzle liberally with olive oil (1 tablespoon my ass) Ignore the fact that the thyme is meant to be in leaf form and measured, despite the fact that you measured the pumpkin. This is because you didn’t read the recipe properly, and because it’s 9:30 at night by this point and you don’t care anymore.

Place in the oven that you preheated about an hour and a half ago to 200 C. Cook for 15 minutes, and then turn the pumpkin and cook for another 15 minutes. Ignore the onions, because it is possible to be too pedantic. The turning process will ruin your artistic arrangement, because to truly understand one’s art one must be willing to destroy it.
This is the point where you realise that maybe you would like to write a blog about this process, and you take a photo of the vegetables, even though there are at least three points earlier where photos may have aided the narrative.

At this point it will be 11:30 at night. On her way to bed, your wife may comment that it smelled good while it was cooking. This will make you simultaneously glow inside and idly wonder how it smells now. Go to bed.

The following morning, it’s time to attempt the pastry once more. Load the ingredients into the blender. This time, you may want to beat the egg before adding it to the mix, in hope that the yolk may be somewhat more evenly distributed. Pulse the blender like you just don’t care, although you do, deeply. After a few pulses, the dough will appear to stop reacting to the spinning blades of death. Either it has succumbed and passed on, or you have achieved some modicum of success. Extract the dough from the blender. It may be sticky, and much of the dough will be caught under the vicious serrated apparatus. Try not to lose any fingers in this operation, as that would surely ruin the pastry dough you have worked so hard to create.

Once the dough has been extracted, knead it to ensure that it has been fully combined. No doubt you will find chunks of cream cheese at this point that have evaded the blender – ignore them. It would be ridiculous to risk the blender again. By denying reality, you can create your own – trust me, lots of people do it. Wrap the soft, silky (or rough and crumbly) dough in cling wrap and place in the fridge.

At this point it is apparently traditional to take your 5 year old to a birthday party at a bowling alley. He will love this. It will be the 9th level of hell for you.

When you return, it will be quite late, so you will need to get straight into the final steps. Preheat the oven once more to 200 C and remove the dough from the fridge. Let it rest for 15 minutes, as it has had a hard day chilling in the fridge. Place the dough between two sheets of baking paper and use  a rolling pin to create a ’30 cm round’. The implication here is that you will end up with a perfect circle. You won’t. It is actually impossible, no matter how carefully you apply consistent pressure to all points of the compass.

Remove one sheet of baking paper from the circular oblong shape. At this point, take the roasted vegetables and place them into an artistic pile in the centre of the pastry. Leave 4 cm around the edge for reasons which will become both apparent and pointless later. Crumble the fetta and spread it over the pumpkin and onions. Tear up the bocconcini and do the same.

At this point, raise the 4 cm edge to create a containment barrier for the vegetables and cheese. This is how you are able to distinguish between a ‘tart’ and a ‘pizza’. Basic geometry will make you realise quickly that you cannot raise a circular edge consistently to 90. Instead, cheat by using what are known as ‘pleats’, which is where you mash the pastry dough into the desired shape regardless of its compliance or the laws of physics. Place the tart on a baking tray. This is important, as things that go in ovens must be on baking trays. Place the baking tray with the tart on it in the oven and set the timer for 30 minutes.

Now it is time for the green leaf salad.

Carefully take the mixed greens from the plastic bag and gently place them in the salad bowl.
The recipe then calls for ‘matchsticks’ of beurre bosc pear. No doubt the more observant of you have noticed that a matchstick is rectangular in shape and the pear is basically round. I can’t help you, figure it out.

Sprinkle the pear matchsticks on the salad and toss. Try to keep the majority of the salad in the bowl if at all possible.
Chop up some dill and sprinkle it over the salad. You probably don’t like dill. No one likes dill, but it is in the recipe so do it anyway.

Squeeze a lemon into a small attractive glass for the dressing. Add a similar amount of olive oil. At this point it is important to remember that as a male, you know very little about salad. Give the pseudo dressing to your wife for repair.

When the timer goes on the oven, don’t bother looking. Knowing that all ovens in rental properties are sub-par, simply reset the timer for 15 minutes safe in the knowledge that you followed the recipe and the recipe has failed you.

It is finally time to serve and enjoy. Remove the tart from the oven. As foreshadowed earlier, you will find at this point that the laws of physics have reigned supreme, and your tart has reverted to its native state – a pizza that has stepped above its social class. Never mind, it’s too late to turn back now.

You may also notice that there are striking differences between the picture in the recipe book and the final result of your efforts. This is normal, as the food in the photo has been lovingly and carefully prepared by professional chefs and photographed by experienced photographers, whereas this tart has been made by…you.



Guess which one you cooked?


At the end of this apparently incredibly long process, it is finally time to settle down and enjoy your meal. Whilst I don’t think I swept my love from her feat with my culinary accomplishments, she seemed to quite enjoy the meal, and even more enjoyed the fact that for once, she hadn’t cooked it. Mission accomplished!

Monday, July 3, 2017

Genetic testing for individual MTHFR polymorphisms: Clinical relevance and ethical considerations in the top 3 worldwide causes of morbidity and mortality


“Within the next few years, you will be able to have your entire genome sequenced for about $1000. From the point of view of your future profession, leading on from your course (medical science, clinical science, pharmacy, nutrition etc), review the literature to find predictions or areas currently under research which rely on genetic information and could affect your future practise (e.g. diagnosis, services, treatment or advice). Explain, using examples of disease, how genetic information facilitates these changes in practise”.

Word count: 1485
Image result for MTHFR gene






GENETIC TESTING FOR INDIVIDUAL MTHFR POLYMORPHISMS: CLINCAL RELEVANCE AND ETHICAL CONSIDERATIONS IN THE TOP 3 WORLDWIDE CAUSES OF MORBIDITY AND MORTALITY.

INTRODUCTION
According to the World Health Organization Cancer, Type II Diabetes and Cardiovascular Disease represent the world’s leading causes of morbidity and mortality. Cancer accounted for 7.6 billion, or 13% of all deaths, 346 million people have diabetes with 3.4 million of those dying as a direct result of high blood sugar, and 17.3 million people died from Cardiovascular disease in 2008, representing 30% of all global deaths (Worldwide death rates from cancer, 2014; Worldwide death rates from diabetes, 2014; Worldwide death rates from cardiovascular disease, 2014). Population-based epidemiological evidence has clarified the role of diet in preventing and controlling morbidity and mortality resulting from these NCDs (non-communicable diseases) (WHO 2003, Hobbs et al. 2014; McMahon & Amaya, 2013; Hosking & Danthiir, 2013; Annema et al., 2011). Stemming from the overwhelming evidence regarding dietary intake and disease risk, International Government bodies have focused on encouraging higher relative consumption of fruits, vegetables and whole grains within the population’s daily food intake via evidence-based macro and micronutrient recommendations (Rodriguez & Miller, 2015; Australian Dietary Guidelines, 2013). The Recommended Daily Intake (RDI) value, for example, reflects the levels of essential nutrients considered adequate to meet the nutritional needs of most healthy people and are based on age, gender, level of physical activity, and pregnancy/lactation status (Brownie, Muggleston & Oliver, 2015).  Recent genetic research however.  indicates that individual genetic polymorphisms, such as those on the MTHFR gene may result in substantial relative risk changes for the aforementioned diseases through epigenetic mechanisms (Kasapoglu et al, 2015; Huemer et al., 2016), requiring a far more individualised approach to recommended nutrient intake and overall dietary pattern. Despite these emerging variations in individual vs population genetic responses to diet and nutrient intake, the application of Nutrigenetics and Nutrigenomics to individual nutrition consultation and dietary recommendation remains ethically controversial (Paulidis, Patrinos & Katsila, 2015; Ferguson, 2014). This paper elucidates the relationship between the aforementioned (NCDs ) and MTHFR gene mutations and addresses both sides of the argument regarding current and potential therapeutic applications, however, until definitive evidence is presented supporting these therapeutic interventions, the usage is not recommended .

CURRENT DIAGNOSIS AND TREATMENT
Cancer, Type II Diabetes and Cardiovascular Disease are all recognised as having both genetic and dietary/lifestyle aetiologies (Eng, 2011; Printz, 2013; Nankervis, 2015; Dupas et al. 2016; Yu, 2016). Hereditary breast and ovarian cancers are linked to BRCA1 and BRCA2 genes, while MLH1 and MSH2 are linked to hereditary colon cancer (Eng, 2011). Type II Diabetes is associated with 70 genomic regions that commonly involve mutations in transcription factors HNF1á and HNF4á that affect insulin secretion (Nankervis , 2015). Cardiovascular disease has been associated with alcohol dehydrogenase, aP2, CCR2 and CCR5, PPARG2, lymphotoxin-a, ABCA1, a common variant at 9p21, NFKB1 and ADRb1 (Yu et al., 2016). More recently, mutations on the MTHFR gene have been linked to all of these diseases in both homozygotic and heterozygotic individuals. Pathogenic mutations associated with an autosomal recessive error of folate metabolism lead to increased homocysteine levels and alteration of gene expression via methylation (Levin & Varga, 2016).
Genetic predisposition is only one of many non-dietary factors at play in the development and emergence of NCDs. Economic, social, climatic, cultural, psychological and even polymorphisms in circadian genes influence the hereditability of these diseases (Almon et al. 2012; Shanmugam et al. 2013). As a result the global health community has recognised that social, economic and political environments drive disease emergence just as, or more strongly, than genetics, biology and individual choice. Combating the major causes of chronic NCDs, rather than new symptom management in an acute care setting is the major focus of the WHO’s Global Coordination Mechanism for NCDs. Prevention is prioritized (Allen, 2016). It is precisely this focus on prevention however that is driving frantic research into the MTHFR gene mutations implicated in chronic NCDs. Identifying at-risk individuals and adjusting specific nutrient values according to their individual polymorphism has been strongly embraced by both the scientific research community and the allied health internet communities as a potentially powerful prevention strategy (Kasapoglu et al. 2015; Shiao et al. 2016; Clarke et al. 2016; Culson et al. 2015; Lynch 2016; Skeptical Raptor’s blog 2015). The multi-system effects of genetic methylation variation due to MTHFR polymorphisms do suggest that a greater understanding of these mutations and the epigenetic effects of diet and lifestyle on the phenotype may be key to targeted prevention of NCDs, however individual genetic testing and its application to disease prevention is still mired in controversy.

MTHFR COMMON MUTATIONS AND PHENOTYPIC EXPRESSION
MTHFR, the methylenetetrahydrofolate reductase gene has been widely investigated regarding epigenetics and human disease (Mcbride & Koehly 2017; Wade, Mcbride, Kardia & Brody, 2010). Showing an autosomal recessive inheritance pattern, the two most common loci exhibiting polymorphism mutations on the gene are C677T and A1298C. These two single nucleotide polymorphisms are about 2,000 base-pairs apart (http://ghr.nlm.nih.gov/gene/MTHFR). The MTHFR enzyme, coded by the MTHFR gene is responsible for homocysteine remethylation to methionine. It catalyzes reduction of 5,10- methylenetetrahydrofolate to 5-methylenetetrahydrofolate, the most common form of folate in blood, tissues and cerebrospinal fluid. This folate form acts as a methyl donor for the methylation of homocysteine to methionine. In those with MTHFR deficiency, this methylation is decreased so plasma levels of homocysteine remain elevated while methionine levels are at low concentrations (Burda et al. 2015). Low methionine then leads to a lack of S-adenosylmethionine which is the primary donor for many important methylation reactions including creatine synthesis and RNA and DNA methylation (Huemer et al. 2016 ).


Enzyme function in affected individuals varies according to hereditability patterns. With an MTHFR 677TT homozygous mutation, 70% of enzyme function is lost compared to 35% in a heterozygous mutation. In MTHFR 1298CC mutations the respective loss of function is 30% (homozygous) and 15% (heterozygous). In rare cases, individuals can exhibit compound polymorphisms or mutations at both loci and will be at increased risk of developing health problems with both neurological and vascular symptoms (Shiao & Yu, 2016).
The resulting low plasma folate/high plasma homocysteine levels associated with MTHFR mutation and their association with Cancer, Cardiovascular disease, neurodevelopmental disease and Type II Diabetes have been repeatedly researched, as folate, the MTHFR gene, and methylation pathways are critical to basic biological processes involving DNA and protein methylation  as well as DNA replication and mutation (Inoue-Choi et al. 2013; Jamaluddin, Young & Wang, 2007; Crider et al. 2012). Additionally, individuals with gene mutations in methylation pathways have been shown to be compromised in their ability to process environmental pollutants, with air pollution causing as much damage as that caused by cigarette smoking ( Kloog, Ridgeway, Koutrakis, Coull & Schwartz, 2013).
Despite the effect of MTHFR mutations on the most fundamental biological processes and the broader implications of these effects, many recent studies have found inconclusive evidence for high plasma homocysteine levels and resulting disease states (Marti-Carvajal et al. 2009;  Greenland et al. 2010). With conflicting results and uncertainty as to clinical implications, most worldwide health authorities recommend against testing for MTHFR polymorphisms (Levin & Varga, 2016). Further, high plasma homocysteine and low folate levels can be routinely and inexpensively treated via dietary changes or supplementation with folate, B12 and B6 (Prachi et al. 2010) although the form of folate supplementation (Folic acid vs. Folinic acid) is still hotly debated (Hyland et al. 2010; Diekman et al. 2014). According to the Academy of Nutrition and Dietetics:
"There is insufficient evidence regarding C677T polymorphism in the MTHFR gene to modify current folate recommendations from those provided in the Dietary Reference Intakes. "(Camp & Trujillo, 2014).
Despite this statement, pilot studies have been undertaken to treat C677T polymorphisms via dietary intervention, with results suggesting that personalized dietary recommendations based on individual genetic makeup and nutritional status are not only effective, but may reduce further somatic complications and the social costs of these diseases (Di Renzo et al. 2014).

ETHICS
Image result for MTHFR gene
With over 10% of the Australian population homozygous or compound heterozygous for these polymorphisms, it is perhaps not surprising that referrals for MTHFR polymorphism testing and counselling are on the increase (Long & Goldblatt, 2016), despite no clinically significant interventions that can reasonably be offered to carrier of the polymorphism (MTHFR Support Australia). Companies like 23andMe and Navigenics offer genetic testing for as little as US $99 to absolutely anyone with internet access, although as they are both American companies, GINA (the Genetic Information Nondiscrimination Act) does not apply to Australian consumers of their services. The Australian Law Reform Commission outlines that although insurance companies, for example, cannot ask an individual to undergo genetic testing, they have every right to pursue whatever genetic information may be available for underwriting purposes (ALRC, 2016). It could be argued that the ethics of genetic testing is at least as complex as the genome itself. While genetic testing enables the detection of new diseases and leads to improved clinical interventions, there remains a high level of concern regarding its social implications (Alper et al. 2002).
Knowing about the intricacies of one’s genome affects how people see themselves, their social identity, and even leads to new kinds of individual risk behaviours ( Arribas-Ayllon, Sarangi & Clark, 2011). The argument quickly boils down to the ‘the right to know’ vs ‘the right not to know’ and must focus on both individual autonomy and societal mores simultaneously (Hunt, Castaneda & Voog, 2006; Gross & Shwval, 2008). The increased anxiety, social stigma and potential discrimination resulting from poorly interpreted or incomplete genetic testing may actually end up opposing one of the oldest medical principles of all: Primum non nocere (Domaradzki, 2015). A psychiatrist friend of mine suggested that I start this paper with “It was a dark and stormy night on Wisteria Lane…” and although he was being as facetious as is expected of a long-term friend and academic, his suggested literary trope for this topic (‘mystery’) was not entirely misplaced. The palpable public fear and mistrust of scientific method and genetic manipulation, whether actual or simply the fear of one portion of humanity holding greater power over the individual through advanced knowledge in genetics, cannot be dismissed lightly. With every advance in epigenetics and nutrigenomics comes a responsibility for balanced and ethical stewardship of information accessibility and dissemination[D13]  (Pinigree, 2008).



REFERENCES
Almon, R.R., DuBois, D.C., Sukumaran, S., Wang, X., Xue, B., Nie, J., Jusko, W. (2012). Effects of High Fat Feeding on Liver Gene Epxression in Diabetic Goto-Kakizaki Rats. Gene Regulation and Systems Biology, 6. 151-165’
Alper, J.S., Ard, C., Ash, A., Beckwith, J. et al. (2002). The double-edged helix. Social implications of genetics in a diverse society. Baltimore, Johns Hopkins University Press, 2002.
Annema, N., Heyworth, J.S., McNaughton, S.A., Lacopetta, B., Fritschi, L. (2011). Fruit and Vegetable Consumption and the Risk of Proximal Colon, Distal Colon, and Rectal Cancers in a Case-Control Study in Western Australia. Journal of the American Dietetic Association, 111(10). 1479-1490  doi: http://dx.doi.org.ezproxy.csu.edu.au/10.1016/j.jada.2011.07.008
Arribas-Ayllon, M., Sarangi, S., Clark, A. (2011). Genetic testing: Accounts of autonomy, responsibility and blame. London, Routledge.
Australian Dietary Guidelines Introduction [online] (2013). Journal of the Home Economics Institute of Australia, 20(1). 8-17
Botto, L.D. & Yang, Q. (2000). 5,10-methylenetetrahydrofolate Reductase Gene Variants and Congenital Anomalies: A HuGE Review. American Journal of Epidemiology, 151(9). 862-877
Brownie, S., Muggleston, H. & Oliver, C. (2015). The 2013 Australian dietary guidelines and recommendations for older Australians. Australian Family Physician, 44(5). 311-315
Burda, P., Schäfer, A., Suormala, T. et al. (2015). Insights into severe 5.10-methylenetetrahydrofolate reductase deficiency: Molecular genetic and enzymatic characterization of 76 patients. Human Mutation, 36(6). 611-621
Clarke, R., Halsey, J., Lewington, S., Lonn, E., Armitage, J., Manson, J.E. et al. (2010). Effects of lowering homocysteine levels with B vitamins on cardiovascular disease, cancer and cause-specific mortality: meta-analysis of 8 randomized trials involving 37, 485 individuals. Archives of Internal Medicine, 170(18). 1622-1631
Crider, K.S., Yang, T.P., Berry, R.J. & Bailey, L.B. (2012). Folate and DNA Methylation: A Review of Molecular Mechanisms and the Evidence for Folate’s role. Advances in Nutrition, 3(1). 21-38
Culson, N.J., Naug, H.L., Nikbakht, E., Zhang, P., McConnack, J. (2015). The impact of MTHFR 677 C/T genotypes on folate status markers: a meta-analysis of folic acid intervention studies. European Journal of Nutrition, 1-14. Advanced online publication.  Doi: 10.1007/s00394-015-1076-x.
Diekman, E.F., de Koning, T.J., Verhoeven-Duit, N.M., Rovers, M.M., van Hasselt, R.M. (2014). Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency. JAMA Neurologica, 71(2). 188-194
Di Renzo, L., Marsella, L.T., Sarlo, F., Soldati, L., Gratten, S., Abenavoli, L., De Lorenzo, A. (2014). C677T gene polymorphism of MTHFR and metabolic syndrome: response to dietary intervention. Journal of Translational Medicine, 12. P 329.  Doi: 10.1186/s12967-014-0329-4
Domaradzki, J. (2015). Patient rights, risks, and responsibilities in the genetic era –a right to know, a right not to know, or a duty to know? Annals of Agricultural and Environmental medicine, 22(1). 156-162
Dupas, J., Goanvec, C., Feay, A., Guernec, A., Guerrero, F., Mansouriti, J. (2016). 0021: Type II diabetes induced by a fructose enriched diet: benefits of exercise training. Archives of Cardiovascular Disease supplements, 8(3). P 265
Eng, C. (2011). Cancer Genetics. The Journal of the American medical Association, 305(22). P 2353
Ferguson, L.R. (2014). Nutrigenomics and nutrigenetics in functional foods and personalized nutrition. Boca Raton, Florida: CRC Press/Taylor & Francis Group.
Gross,S.E. & Shwval, J.T. (2008). On knowing and believing: prenatal genetic screening and resistance to ‘risk-medicine’. Health, Risk & Society, 10(6). 549-564  doi: 10.1080/13698570802533721
Hobbs, M., Pearson, N., Foster, P.J., Biddle, S.J.H. (2014). Sedentary behaviour and diet across the lifespan: an updated systematic review. British Journal of Sports Medicine, 49(18). http://dx.doi.org/10.1136/bjsports-2014--093754
Hosking, D. & Danthiir, V. (2013). Retrospective lifetime dietary patterns are associated with demographic and cardiovascular health variables in an older community-dwelling Australian population. British Journal of Nutrition, 110(11). 2069-2083   doi: https://doi.org.ezproxy.csu.edu.au/10.1017/500711451300144X
Huemer, M., Mulder-Bleile, R., Burda, P. … Morris, A. et al. (2016). Clinical pattern, mutation and in vitro residual activity in 33 patients with severe 5,10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Journal of Inherited Metabolic Disease, 39(1). 115-124
Hunt, L.M., Castañeda, H., de Voog, S. (2006). Do notions of risk inform patient choice? Lessons from a study of prenatal genetic counselling. Medical Anthropology, 25(3). 193-219
Hyland, K., Shoffner, J., Heales, S.J. (2010). Cerebral folate deficiency. Journal of Inherited Metabolic Disease, 33(5) 563-570
Inoue-Choi, M., Nelson, H.H., Robien, K., Arning, E., Bottiglieri, T., Koh, W., Yuan, J. (2013). Plasma S-adenosylmethionine, DNMT polymorphisms, and peripheral blood LINE-1 methylation among healthy Chinese adults in Singapore. BMC Cancer, 13. 389.  Doi: 10.1186/1471-2407-13-389
Jamaluddin, M.S., Yang, X. & Wang, H. (2007). Hyperhomocysteinemia, DNA methylation and vascular disease. Clinical Chemistry and Laboratory Medicine, 45(12). 1660-1666.
Kasapoglu, B., Turkay, C., Yakin, K.S., Kosov, A., Bozkurt, A. (2015).MTHFR 677C/T and 1298 A/C mutations and non-alcoholic fatty liver disease. Clinical Medicine, 15(3). 248-251
Kloog, I., Ridgway. B., Koutrakis, P., Coull, B.A., Schwartz, J.D. (2013). Long- and short-term exposure to PM2.5 and mortality: using novel exposure models. Epidemiology, 24(4). 555-561
Levin, D.L. & Varga, E.J. (2010). MTHFR. Addressing Genetic Counselling Dilemmas Using Evidence-Based Literature. Journal of Genetic Counselling, 25. P 901. Doi: 10.1007/s10897-016-9956-7
Lang, S. & Goldblatt, J. (2016). MTHFR genetic testing: Controversy and clinical implications. Australian Family Physician, 45(4). 237-240
Lynch, B. (2016). MTHFR.Net: your expert resource on MTHFR Gene Mutations. Retrieved from http:///www.mthfr.net
Marti-Carvajal, A.J., Sola, I., Lathyris, D., Salanti, G. (2009). Homocysteine lowering interventions for preventing cardiovascular events. Cochrane Database System Reviews, 4: CD006612. Doi: 10.1002/12651858.CD006612.pub.2
McBride, C.M. & Koehly, L.M. (2017). Imagining roles for epigenetics in health promotion research. Journal of Behavioural Medicine, 40(2). 229-238
McMahon, S. & Amaya, G. (2013). Obesity Prevention in Urban Settings: Creating Healthy Environments. American Journal of Health Sciences, 4(1). 45-50
Nankervis, A. (2015). Genetics in Diabetes: Type 2 Diabetes and Related Traits. Australian Family Physician, 44(5). P.333
Paulidis, C., Patrinos, G.P., Katsila, T. (2015). Nutrigenomics: A controversy. Applied and Translational Genomics, 4. 50-53
Pinigree, R.J. (2008). Is there truth out there? Neutral reporting and epistemic political efficacy. (Order No. 3327808), Available from ProQuest Dissertations and Theses Global. (304457675). Retrieved from https://search-proquest-com.ezproxy.csu.edu.au/docview/304457675?accountid=10344
Prachi, K., Dattaray, B., Lubree, H., Otivi, S., Jushi, S. et al. (2010). Vitamin B12 and folic acid supplementation and plasma total homocysteine concentrations in pregnant Indian women with low B12 and high folate status. Clinical Nutrition, 19(3). 335-343
Printz, C. (2013). Researchers continue to explore links between diet and cancer. Cancer, 119. 1447-1448
Rodriguez, N.R. & Millder, S.L. (2015). Effective translation of current dietary guidelines: understanding and communicating the concepts of minimal and optimal levels of dietary protein. American Journal of Clinical Nutrition, 101(6). 1353-1358
Shanmugam, V., Wati, A., Al-Taweel, N., Busselberg, D. (2013). Disruption of circadian rhythm increases the risk of cancer, metabolic syndrome and cardiovascular disease. Journal of Local and Global Health Science, 3. Doi: 10.5339/jlghs.2013.3
Shiao, S.P.K. & Yu, C.H. (2016). Meta-prediction of MTHFR Gene Polymorphism Mutations and Associated Risk for Colorectal Cancer. Biological Research for Nursing, 18(4). Doi: 10.1177/1099800415628054
Skeptical Raptor’s Blog (7th May 2015). MTHFR gene mutations are the root of all health problems. Skeptical Raptor’s Blog: GENETICS, Nutrition, Vaccines. Retrieved from: http://www.skepticalraptor.com/skeptical/raptorblog.php/mthfr-gene-mutations-are-the-root-of-all-health-problems/.
Wade, C.H., McBride, C.M., Kardia, S.L., Brody, L.C. (2010). Considerations for designing a prototype genetic test for use in translational research. Public Health Genomics, 13(3). 155-165
WHO (2003). Diet, Nutrition and the prevention of diseases. Wolrd Health Organization, 20 Avenue Appia. Geneva Ch-1211. Switzerland.
Worldwide death rates from cancer. (2014, April 19). Retrieved from World Health Organisation: http://www.who.int/mediacentre/factsheets/fs297/en
Worldwide deaths from cardiovascular disease. (2014, April 19). Retrieved from World Health Organisation: http://www.who.int/mediacentre/factsheets/fs317/en
Worldwide death rates from diabetes (2014, April 19). Retrieved from World Health Organisation: http://www.who.int/mediacentre/factsheets/fs312/en/.
Yu, E., Rimm, E., Qi, L., Rexrode, K., Albert, C.M. et al. (2016). Diet, Lifestyle, Biomarkers, Genetic Factors, and Risk of Cardiovascular Disease in the Nurse’s Health Studies. American Journal of Public Health, 106(9). 1618-1623


HD (100-85)
DI (85-75)
CR (75-65)
PS (65-50)
FL (<50)
Mark
Title & Introduction
(/10)

Very focused & concise title & introduction, leading to a completely clear & logical plan.
A  few significant diseases relevant to the students course are introduced
Focused & concise title & introduction, leading to a logical plan.
A few diseases relevant to the students course are introduced

Title & introduction are reasonably well focused and concise.
A disease relevant to the students course is introduced

Title & introduction are somewhat focused and concise.
A few diseases which are irrelevant to the students course are introduced
Significant information in title & introduction is missing.
 No diseases are introduced

 10
Presentation of content relevant to the current diagnosis and treatment of disease, how this will change with genetic testing and description of ethical consequences
(/45)

Very appropriate & accurate presentation of the literature throughout.
Current diagnoses and treatment based on genetic information accurate. Common mutations identified. Concise changes to diagnosis and treatment as a result of genetic testing identified. Sound description of ethical issues as a result of DNA testing

Appropriate & mostly accurate presentation of the literature throughout.
Current diagnoses and treatment based on genetic information included. Some common mutations identified. Some changes to diagnosis and treatment as a result of genetic testing identified.
 Sound description of ethical issues as a result of DNA testing
Some minor inaccuracies and presentation of the literature throughout.
Figures and tables
Inaccurate current diagnoses and treatment based on genetic information included. Some common mutations identified. Some changes to diagnosis and treatment as a result of genetic testing identified. Brief description of ethical issues as a result of DNA testing

Some information presented which is inaccurate. Data not described in appropriate detai. Current diagnoses and treatment based on genetic information inaccurate. Common mutations identified. Minor changes to diagnosis and treatment as a result of genetic testing identified.
 Some description of ethical issues as a result of DNA testing
No interpretation of relevant literature and inaccuracies present.
Current diagnoses and treatment not based on genetic information. Common mutations not identified. Minor changes to diagnosis and treatment as a result of genetic testing identified.
 No description of ethical issues as a result of DNA testing
 45
Evidence of linking of information from various sources and critical analysis (/20)
Information from various sources and concepts is linked throughout the assignment. There is evidence of critical analysis of various sources. The balance of references is very good throughout the assignment
Information from various sources and concepts is linked throughout the assignment. There is limited critical analysis of various sources. The balance of references is very good throughout the assignment
There is some linkage of various sources and concepts throughout the assignment. There is very limited critical analysis The balance of references is very good throughout the assignment
There is some linkage of various sources and concepts throughout the assignment. There is no critical analysis the references are unbalanced.
No linking of concepts across the various parts of the assignment.
Normal and abnormal situation are not clearly separated and information is presented under the wrong headings. No balance of references in the assignment (i.e.many references used for only one paragraph, one reference used for the rest of the assignment
 20
Clarity of expression
and logical flow of
information (/10)

No grammatical or spelling errors.
Professional expression & style used consistently. Sections distinct & literature review logically organised.

No more than 4 grammatical and spelling errors. Professional expression & style used consistently. Sections distinct & literature review logically organised
No more than 4 grammatical and spelling errors. Minor flaws in professional expression & style. Most of the literature review logically organised.

No more than 4 grammatical and spelling errors. Occasional flaws in professional expression & style and literature review not logically organised.

More than 4 grammatical and spelling errors.
 10
References (/10)
More than 80% of the references used are from international peer reviewed journals and published after 2008.
No errors in reference list and no more than 5 errors in citation style list (APA format).

More than 70% of the references used are from international peer reviewed journals and published after 2008.
No errors in reference list and no more than 5 errors in citation style list (APA format).

More than 50% of the references used is from international peer reviewed journals and published after 2008.
No errors in reference list and no more than 10 errors in citation style list (APA format).

Less than 50% of the references used is from international peer reviewed journals and published after 2008.
No more than 2 errors in reference list and no more than 10 errors in citation style list (APA format).

Use of literature limited to a few articles & reviews. Poor attempt to explore literature. Major errors in citations & reference list.

 8[D15] 
Presentation (/5)
Word count clearly indicated. Full adherence to word limit and presentation guidelines in subject outline (3cm margin, double or 1.5 line spacing, 12pt font, numbered
pages, header and footer, title page. Turnitin report included.
Word count clearly indicated. Full adherence to word limit and presentation guidelines in subject outline (3cm margin, double or 1.5 line spacing, 12pt font, numbered
pages, header and footer, title page Turnitin report included.
Word count not indicated.Full adherence to word limit and presentation guidelines in subject outline (3cm margin, double or 1.5 line spacing, 12pt font, numbered
pages, header and footer, title page. Turnitin report included.
Word count not indicated.No adherence to word limit and presentation guidelines in subject outline (3cm margin, double or 1.5 line spacing, 12pt font, numbered
pages, header and footer, title page. Turnitin report not included.
Word count not indicated. No adherence to word limit and presentation guidelines in subject outline not adhered to (3cm margin, double or 1.5 line spacing,12pt font, numbered pages, header
and footer, title page). Turnitin report not included.

 5

Total = 98









 [D13]a complicated subject but an excellent essay, clear, well researched, logical flow and thoughtful conclusions…exemplary! It would appear that you really enjoyed the exercise