The Educated Patient

Taking a Risk with a Chronic Condition


1.            UMDF Conference Poster Nadeau_Allin_Mattman June 7.

2.            MITO FOOD PL AN Comprehensive Guide.

3.            CIHR’s Framework for Citizen Engagement Partnerships and Citizen Engagement Branch.


5.            Autophagy – a cure for many present-day diseases? – Diet Doctor.

6.            Psoriasis and Dyslipidaemia: A Population-based Study: Ingenta Connect.

7.            Five Misunderstandings About Case-Study Research. Inquiry, 2006. 12(2): p. 219-245.

8.            Involving Patients in Research: Considering Good Practice. 2013.

9.            Dietary carbohydrate restriction as the first approach in diabetes management: Critical review and evidence base. 2015, Elsevier. p. 1-13.

10.          Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology. Vol. 1031. 2017, Cham: Springer International Publishing.

11.          No Title. 2017, NIH Public Access. p. 262-284.

12.          Interaction between epigenetic and metabolism in aging stem cells. 2017, Elsevier Current Trends. p. 1-7.

13.          Impact of intermittent fasting on health and disease processes. 2017. p. 46-58.

14.          Aanen, D.K., J.N. Spelbrink, and M. Beekman, What cost mitochondria? The maintenance of functional mitochondrial DNA within and across generations. Philosophical Transactions of the Royal Society B: Biological Sciences, 2014. 369(1646): p. 20130438-20130438.

15.          Achanta, L.B. and C.D. Rae, β-Hydroxybutyrate in the Brain: One Molecule, Multiple Mechanisms. Neurochemical Research, 2017. 42(1): p. 35-49.

16.          Ahola, S., et al., Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients. EMBO Molecular Medicine, 2016. 8(11): p. 1234-1247.

17.          Albanese, A., et al., Phenomenology and classification of dystonia: a consensus update. Movement disorders : official journal of the Movement Disorder Society, 2013. 28(7): p. 863-73.

18.          Al-Sarraj, T., et al., Carbohydrate restriction favorably alters lipoprotein metabolism in Emirati subjects classified with the metabolic syndrome. Nutrition, Metabolism and Cardiovascular Diseases, 2010. 20(10): p. 720-726.

19.          Andersson, E., et al., [Physical activity is just as good as CBT or drugs for depression]. Lakartidningen, 2015. 112.

20.          Andrews-Hanna, J.R., et al., Disruption of Large-Scale Brain Systems in Advanced Aging. Neuron, 2007. 56(5): p. 924-935.

21.          Angermayr, L., D. Melchart, and K. Linde, Multifactorial Lifestyle Interventions in the Primary and Secondary Prevention of Cardiovascular Disease and Type 2 Diabetes Mellitus—A Systematic Review of Randomized Controlled Trials. Annals of Behavioral Medicine, 2010. 40(1): p. 49-64.

22.          Anton, S.D., et al., Flipping the Metabolic Switch: Understanding and Applying the Health Benefits of Fasting. Obesity, 2017. 00(2): p. 254-268.

23.          Arias Merino, G., et al., Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe. 2017. p. 521-533.

24.          Ashrafi, G. and T.L. Schwarz, The pathways of mitophagy for quality control and clearance of mitochondria. Cell Death & Differentiation, 2013. 20(1): p. 31-42.

25.          Augustin, K., et al., Review Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders. 2018.

26.          Austin, B.A. and A.D. Gadhia, New Therapeutic Uses for Existing Drugs. 2017. p. 233-247.

27.          Azevedo, F.R.d., D. Ikeoka, and B. Caramelli, Effects of intermittent fasting on metabolism in men. Revista da Associação Médica Brasileira, 2013. 59(2): p. 167-173.

28.          Baldovino, S., et al., Immunological Rare Diseases. 2017. p. 497-509.

29.          Barbieri, E., et al., The pleiotropic effect of physical exercise on mitochondrial dynamics in aging skeletal muscle. Oxidative medicine and cellular longevity, 2015. 2015: p. 917085-917085.

30.          Barendregt, K., et al., Basics in clinical nutrition: Simple and stress starvation. e-SPEN, the European e-Journal of Clinical Nutrition and Metabolism, 2008. 3(6): p. e267-e271.

31.          Baynam, G., et al., Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. 2017. p. 55-94.

32.          Baynam, G., et al., Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity. 2017. p. 511-520.

33.          Bentzinger, C.F., et al., Cellular dynamics in the muscle satellite cell niche. 2013. p. 1062-1072.

34.          Bermejo-Sánchez, E. and M. Posada de la Paz, Congenital Anomalies: Cluster Detection and Investigation. 2017. p. 535-557.

35.          Bertile, F., et al., The Safety Limits Of An Extended Fast: Lessons from a Non-Model Organism. Scientific Reports, 2016. 6(1): p. 39008-39008.

36.          Bindoff, L.A. and B.A. Engelsen, Mitochondrial diseases and epilepsy. Epilepsia, 2012. 53(s4): p. 92-97.

37.          Bishop, K.S. and L.R. Ferguson, The interaction between epigenetics, nutrition and the development of cancer. 2015, Multidisciplinary Digital Publishing Institute (MDPI). p. 922-947.

38.          Bishop, N.A., T. Lu, and B.A. Yankner, Neural mechanisms of ageing and cognitive decline. Nature, 2010. 464(7288): p. 529-535.

39.          Bjørndal, B., et al., Different adipose depots: Their role in the development of metabolic syndrome and mitochondrial response to hypolipidemic agents. Journal of Obesity, 2011. 2011.

40.          Boison, D., New insights into the mechanisms of the ketogenic diet. 2017. p. 187-192.

41.          Bournat, J.C. and C.W. Brown, Mitochondrial dysfunction in obesity. Current opinion in endocrinology, diabetes, and obesity, 2010. 17(5): p. 446-452.

42.          Branco, A.F., et al., Ketogenic diets: From cancer to mitochondrial diseases and beyond. 2016.

43.          Brehm, B.J., et al., A Randomized Trial Comparing a Very Low Carbohydrate Diet and a Calorie-Restricted Low Fat Diet on Body Weight and Cardiovascular Risk Factors in Healthy Women. The Journal of Clinical Endocrinology & Metabolism, 2003. 88(4): p. 1617-1623.

44.          Budych, K., T.M. Helms, and C. Schultz, How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy, 2012. 105(2-3): p. 154-164.

45.          Burr, S.P., M. Pezet, and P.F. Chinnery, Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line. Development, Growth & Differentiation, 2018. 60(1): p. 21-32.

46.          Busch, K.B., A. Kowald, and J.N. Spelbrink, Quality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity? Philosophical Transactions of the Royal Society B: Biological Sciences, 2014. 369(1646): p. 20130442-20130442.

47.          Bussard, K.M. and L.D. Siracusa, Understanding Mitochondrial Polymorphisms in Cancer. Cancer Research, 2017. 77(22): p. 6051-6059.

48.          Camandola, S. and M.P. Mattson, Brain metabolism in health, aging, and neurodegeneration. The EMBO Journal, 2017.

49.          Carling, D., AMPK signalling in health and disease. 2017. p. 31-37.

50.          Castilla-Rodríguez, I., et al., Cost-Effectiveness Methods and Newborn Screening Assessment. 2017. p. 267-281.

51.          Castro, R., et al., Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions. 2017. p. 605-627.

52.          Cerletti, M., et al., Highly Efficient, Functional Engraftment of Skeletal Muscle Stem Cells in Dystrophic Muscles. Cell, 2008. 134(1): p. 37-47.

53.          Chinnery, P.F., et al., Treatment for mitochondrial disorders (Review) Treatment for mitochondrial disorders.

54.          Cohen, B.H., MERRF. 2016, Elsevier. p. 31-36.

55.          Coronado, M., et al., Physiological Mitochondrial Fragmentation Is a Normal Cardiac Adaptation to Increased Energy DemandNovelty and Significance. Circulation Research, 2018. 122(2): p. 282-295.

56.          Coulter, A., et al., Personalised care planning for adults with chronic or long-term health conditions. 2015. p. CD010523-CD010523.

57.          Courchesne-Loyer, A., et al., Inverse relationship between brain glucose and ketone metabolism in adults during short-term moderate dietary ketosis: A dual tracer quantitative positron emission tomography study. Journal of Cerebral Blood Flow & Metabolism, 2017. 37(7): p. 2485-2493.

58.          Cox, Pete J.J., et al., Nutritional Ketosis Alters Fuel Preference and Thereby Endurance Performance in Athletes. Cell Metabolism, 2016. 24(2): p. 256-268.

59.          Cramer, H., et al., A systematic review of yoga for major depressive disorder. Journal of Affective Disorders, 2017. 213: p. 70-77.

60.          Cutillo, C.M., C.P. Austin, and S.C. Groft, A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC). 2017. p. 349-369.

61.          Day, S., Evidence-Based Medicine and Rare Diseases. 2017. p. 207-220.

62.          Dehghan, M., et al., Associations of fats and carbohydrate intake with cardiovascular disease and mortality in 18 countries from five continents (PURE): a prospective cohort study. Lancet (London, England), 2017. 390(10107): p. 2050-2062.

63.          Dela Cruz, C.S. and M.-J. Kang, Mitochondrial dysfunction and damage associated molecular patterns (DAMPs) in chronic inflammatory diseases. Mitochondrion, 2017.

64.          Delisle, V.C., et al., Perceived Benefits and Factors that Influence the Ability to Establish and Maintain Patient Support Groups in Rare Diseases: A Scoping Review. The Patient – Patient-Centered Outcomes Research, 2017. 10(3): p. 283-293.

65.          Desveaux, L., et al., Yoga in the Management of Chronic Disease. Medical Care, 2015. 53(7): p. 653-661.

66.          Devall, M., et al., Epigenetic regulation of mitochondrial function in neurodegenerative disease: New insights from advances in genomic technologies. Neuroscience Letters, 2016. 625: p. 47-55.

67.          Dias, R.B., et al., Adenosine: setting the stage for plasticity. Trends in Neurosciences, 2013. 36: p. 248-257.

68.          DiMauro, S. and M. Hirano, MERRF. 1993: University of Washington, Seattle.

69.          Diot, A., et al., Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children. Biochemical Society transactions, 2016. 44(4): p. 1091-1100.

70.          Diot, A., K. Morten, and J. Poulton, Mitophagy plays a central role in mitochondrial ageing. Mammalian Genome, 2016. 27(7-8): p. 381-395.

71.          Dittenhafer-Reed, Kristin E., et al., SIRT3 Mediates Multi-Tissue Coupling for Metabolic Fuel Switching. Cell Metabolism, 2015. 21(4): p. 637-646.

72.          Duan, M., J. Tu, and Z. Lu, Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations. Molecules, 2018. 23(2): p. 323-323.

73.          El-Hattab, A.W. and F. Scaglia, Mitochondrial Cardiomyopathies. Frontiers in Cardiovascular Medicine, 2016. 3: p. 25-25.

74.          Endocrine Society, O., et al., The journal of clinical endocrinology and metabolism. 2015: Charles C. Thomas.

75.          Enriquez, J.A., A. Chomyn, and G. Attardi, MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination. Nature Genetics, 1995. 10(1): p. 47-55.

76.          Espay, A.J., Neurologic complications of electrolyte disturbances and acid–base balance. Handbook of Clinical Neurology, 2014. 119: p. 365-382.

77.          Fedorovich, S.V., T.V. Waseem, and L.V. Puchkova, Biogenetic and morphofunctional heterogeneity of mitochondria: the case of synaptic mitochondria. Reviews in the Neurosciences, 2017. 28(4): p. 363-373.

78.          Feinman, R.D., et al., Dietary carbohydrate restriction as the first approach in diabetes management: critical review and evidence base. Elsevier.

79.          Ferrari, E., et al., PP2A Controls Genome Integrity by Integrating Nutrient-Sensing and Metabolic Pathways with the DNA Damage Response. Molecular Cell, 2017. 67(2): p. 266-281.e4.

80.          Ferrelli, R.M., et al., Health Systems Sustainability and Rare Diseases. 2017. p. 629-640.

81.          Fine, E.J., et al., Targeting insulin inhibition as a metabolic therapy in advanced cancer: A pilot safety and feasibility dietary trial in 10 patients. Nutrition, 2012. 28(10): p. 1028-1035.

82.          Finnell, J.S., et al., Is fasting safe? A chart review of adverse events during medically supervised, water-only fasting. BMC Complementary and Alternative Medicine, 2018. 18(1): p. 67-67.

83.          Finsterer, J., S. Zarrouk-Mahjoub, and J.M. Shoffner, MERRF Classification: Implications for Diagnosis and Clinical Trials. Pediatric Neurology, 2018. 80: p. 8-23.

84.          Freeman, J.M., et al., A blinded, crossover study of the efficacy of the ketogenic diet. Epilepsia, 2009. 50(2): p. 322-325.

85.          Fung, J., Fasting, cellular cleansing and cancer – is there a connection? – Diet Doctor. 2017. p. 1-1.

86.          Gammage, P.A., et al., Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations. EMBO molecular medicine, 2014. 6(4): p. 458-66.

87.          Gano, L.B., M. Patel, and J.M. Rho, Ketogenic diets, mitochondria, and neurological diseases. Journal of Lipid Research, 2014. 55(11): p. 2211-2228.

88.          Garcia, D. and R.J. Shaw, AMPK: Mechanisms of Cellular Energy Sensing and Restoration of Metabolic Balance. Molecular Cell, 2017. 66: p. 789-800.

89.          García-Castro, J. and I. Singeç, Prospects of Pluripotent and Adult Stem Cells for Rare Diseases. 2017. p. 371-386.

90.          García-Prat, L., M. Martínez-Vicente, and P. Muñoz-Cánoves, Methods for Mitochondria and Mitophagy Flux Analyses in Stem Cells of Resting and Regenerating Skeletal Muscle. 2016. p. 223-240.

91.          Gegg, M.E., Interaction Between Mitochondria and Autophagy. 2015, Springer, Cham. p. 41-61.

92.          Gopal-Srivastava, R. and P. Kaufmann, Facilitating Clinical Studies in Rare Diseases. 2017. p. 125-140.

93.          Grieb, P., et al., Long-term consumption of a carbohydrate-restricted diet does not induce deleterious metabolic effects. Nutrition Research, 2008. 28(12): p. 825-833.

94.          Griffiths, C.E.M. and J.N.W.N. Barker, Pathogenesis and clinical features of psoriasis. The Lancet, 2007. 370(9583): p. 263-271.

95.          Groft, S.C. and M. Posada de la Paz, Preparing for the Future of Rare Diseases. 2017. p. 641-648.

96.          Groft, S.C. and M. Posada de la Paz, Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data. 2017. p. 3-21.

97.          Guzmán, M. and C. Blázquez, Is there an astrocyte-neuron ketone body shuttle? Trends in endocrinology and metabolism: TEM. 12(4): p. 169-73.

98.          Hamacher-Brady, A. and N.R. Brady, Mitophagy programs: mechanisms and physiological implications of mitochondrial targeting by autophagy. 2087.

99.          Harcombe, Z., Dietary fat guidelines have no evidence base: Where next for public health nutritional advice? 2017. p. 769-774.

100.        Hardie, D.G., B.E. Schaffer, and A. Brunet, AMPK: An Energy-Sensing Pathway with Multiple Inputs and Outputs. Trends in Cell Biology, 2016. 26(3): p. 190-201.

101.        Hawke, T.J. and D.J. Garry, Myogenic satellite cells: physiology to molecular biology. Journal of Applied Physiology, 2001. 91(2): p. 534-551.

102.        He, L., et al., Autophagy: The Last Defense against Cellular Nutritional Stress. Advances in Nutrition, 2018. 9(4): p. 493-504.

103.        Hearing, C.M., et al., Physical Exercise for Treatment of Mood Disorders: A Critical Review. Current Behavioral Neuroscience Reports, 2016. 3(4): p. 350-359.

104.        Herst, P.M., et al., Functional Mitochondria in Health and Disease. Frontiers in Endocrinology, 2017. 8: p. 296-296.

105.        Hertz, L., Y. Chen, and H.S. Waagepetersen, Effects of ketone bodies in Alzheimer’s disease in relation to neural hypometabolism, β-amyloid toxicity, and astrocyte function. Journal of Neurochemistry, 2015. 134(1): p. 7-20.

106.        Hildebrandt, M., Dipeptidyl aminopeptidases in health and disease. 2003: Kluwer Academic/Plenum Publishers. 359-359.

107.        Hite, A.H., et al., In the face of contradictory evidence: report of the Dietary Guidelines for Americans Committee. Nutrition (Burbank, Los Angeles County, Calif.), 2010. 26(10): p. 915-924.

108.        Holme, E., et al., Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A–>G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. American journal of human genetics, 1993. 52(3): p. 551-556.

109.        Holt, I.J., D. Speijer, and T.B.L. Kirkwood, The road to rack and ruin: selecting deleterious mitochondrial DNA variants. Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2014. 369(1646): p. 20130451-20130451.

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111.        Imamura, K., et al., D-b-Hydroxybutyrate Protects Dopaminergic SH-SY5Y Cells in a Rotenone Model of Parkinson’s Disease.

112.        Ishihara, N., et al., Regulation of mitochondrial morphology through proteolytic cleavage of OPA1. The EMBO Journal, 2006. 25(13): p. 2966-2977.

113.        Iskrov, G., T. Miteva-Katrandzhieva, and R. Stefanov, Health Technology Assessment and Appraisal of Therapies for Rare Diseases. 2017. p. 221-231.

114.        Jinnah, H.A., et al., Treatable inherited rare movement disorders. Movement Disorders, 2018. 33(1): p. 21-35.

115.        Jinnah, H.A., V. Neychev, and E.J. Hess, The Anatomical Basis for Dystonia: The Motor Network Model. Tremor and other hyperkinetic movements (New York, N.Y.), 2017. 7: p. 506-506.

116.        Johnston, B.C., et al., Methods for trustworthy nutritional recommendations NutriRECS (Nutritional Recommendations and accessible Evidence summaries Composed of Systematic reviews): a protocol. BMC Medical Research Methodology, 2018. 18(1): p. 162-162.

117.        Johnston, B.C., et al., The Philosophy of Evidence-Based Principles and Practice in Nutrition. Mayo Clinic proceedings. Innovations, quality & outcomes, 2019. 3(2): p. 189-199.

118.        Julio-Amilpas, A., et al., Protection of hypoglycemia-induced neuronal death by β-hydroxybutyrate involves the preservation of energy levels and decreased production of reactive oxygen species. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, 2015. 35(5): p. 851-60.

119.        Kaushik, S., et al., Chaperone-mediated autophagy at a glance. Journal of cell science, 2011. 124(Pt 4): p. 495-9.

120.        Kawamura, M., et al., Ketogenic diet sensitizes glucose control of hippocampal excitability. Journal of Lipid Research, 2014. 55(11): p. 2254-2260.

121.        Keating, S.T. and A. El-Osta, Epigenetics and metabolism. Circulation research, 2015. 116(4): p. 715-736.

122.        Kephart, W., et al., The Three-Month Effects of a Ketogenic Diet on Body Composition, Blood Parameters, and Performance Metrics in CrossFit Trainees: A Pilot Study. Sports, 2018. 6(1): p. 1-1.

123.        Khusid, M.A. and M. Vythilingam, The Emerging Role of Mindfulness Meditation as Effective Self-Management Strategy, Part 1: Clinical Implications for Depression, Post-Traumatic Stress Disorder, and Anxiety. Military Medicine, 2016. 181(9): p. 961-968.

124.        Kim, D., et al., Suppression of Brown Adipocyte Autophagy Improves Energy Metabolism by Regulating Mitochondrial Turnover. International journal of molecular sciences, 2019. 20(14).

125.        Kim, D.Y., J. Vallejo, and J.M. Rho, Ketones prevent synaptic dysfunction induced by mitochondrial respiratory complex inhibitors. Journal of Neurochemistry, 2010. 114(1): p. no-no.

126.        Kim, I., S. Rodriguez-Enriquez, and J.J. Lemasters, Minireview: Selective Degradation of Mitochondria by Mitophagy. Archives of biochemistry and biophysics, 2007. 462(2): p. 245-245.

127.        Klosinski, L.P., et al., White Matter Lipids as a Ketogenic Fuel Supply in Aging Female Brain: Implications for Alzheimer’s Disease. EBioMedicine, 2015. 2(12): p. 1888-1904.

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131.        Kujala, U.M., Evidence on the effects of exercise therapy in the treatment of chronic disease. 2009.

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158.        McCarthy, C., et al., Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge. 2017. p. 419-442.

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169.        Moliner, A.M. and J. Waligora, The European Union Policy in the Field of Rare Diseases. 2017. p. 561-587.

170.        Moreno, C.L. and C.V. Mobbs, Epigenetic mechanisms underlying lifespan and age-related effects of dietary restriction and the ketogenic diet. Molecular and Cellular Endocrinology, 2017. 455: p. 33-40.

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