• Non ci sono risultati.

Section III – Current Clinical Assessment

8.4. PATIENTS GLOBAL IMPRESSION OF CHANGE (PGIC)

Da quando ha iniziato il trattamento può descrivere la sua impressione su come sia cambiata la sua condizione dolorosa (limitazione dell’attività fisica, emozione e qualità della vita)?

• Nessun cambiamento, (o addirittura è peggiorata) • Sempre lo stesso, è difficile pensare ad un miglioramento • Un pò meglio, ma non notevole

• Qualche volta meglio, ma il cambiamento non è una reale differenza • Moderatamente meglio, un leggero e notevole miglioramento

• Meglio, un deciso miglioramento che costituisce una reale differenza • Un grande e deciso miglioramento, e che fa la differenza

Cerchiare il numero che corrisponde al grado di cambiamento della sua condizione dolorosa dall’inizio del trattamento (0 molto meglio - 10 molto peggio):

101

9. RINGRAZIAMENTI

Desidero rivolgere i miei più sentiti ringraziamenti a tutti coloro che mi hanno permesso di raggiungere questo importante traguardo.

Ringrazio il Prof. Michelangelo Mancuso, il Dott. Vincenzo Montano e la Dott.ssa Costanza Simoncini per la disponibilità dimostrata sempre nei miei confronti, per i consigli dati e per il prezioso aiuto durante lo svolgimento dello studio.

Un sentito ringraziamento va anche al personale infermieristico e laboratoristico per il loro contributo nel lavoro di ricerca.

Desidero ringraziare la mia famiglia, mia madre e mio padre, per la presenza costante durante tutto il percorso di studi e per gli sforzi che hanno fatto per consentirmi di raggiungere questo obiettivo, mia sorella, per essere stata al mio fianco in ogni momento, mia nonna, per essere stata un prezioso punto di riferimento.

Un grazie di cuore ai miei amici e alle persone fantastiche che ho conosciuto in questi anni, che mi hanno sempre supportato durante questo percorso. Un grazie a chi, in particolare, è stato sempre presente, anche nei momenti di incertezza e difficoltà, e mi ha permesso di diventare la persona che sono oggi.

102

10.

ABBREVIAZIONI

❖ 3TUG = 3 Time Up to Go test ❖ 5xSST = 5 Times Sit-to-Stand

Test

❖ 6MWT = Six Minute Walking Test

❖ ADP = Adenosina Difosfato ❖ adPEO = PEO a trasmissione

Autosomica dominante ❖ AIF = Fattore Inducente

Apoptosi

❖ arPEO = PEO a trasmissione Autosomica Recessiva ❖ ATP = Adenosina Trifosfato ❖ BMI = Body Mass Index ❖ CK = Creatin-(Fosfo)Chinasi ❖ CoQ10 = Coenzima Q10 ❖ Cyt c = Citocromo c

❖ ECG = Elettrocardiogramma ❖ EMG = Elettromiografia

❖ ETC = Electron Transport Chain ❖ FEV1 = Forced Expiratory

Volume in the 1st second ❖ FGF-21 = Fibroblastic Growth

Factor-21

❖ FSS = Fatigue Severity Scale ❖ GDF15 = Growth

Differentiation Factor-15 ❖ HRQoL = Health Related

Quality of Life

❖ KSS = Kearns-Sayre syndrome ❖ MELAS = Encefalopatia

Mitocondriale con Acidosi Lattica ed episodi tipo Stroke

❖ MM = Miopatia Mitocondriale ❖ MMERF = Epilessia Mioclonica

con Fibre “Ragged red” ❖ MRC = Medical Research

Council (scale)

❖ MRS = Risonanza Magnetica Spettroscopica

❖ mtDNA = DNA mitocondriale ❖ nDNA = DNA nucleare ❖ PCr = Fosfocreatina

❖ PEO = Oftalmoplegia Esterna Progressiva

❖ PGIC = Patients' Global Impression of Change (scale) ❖ Pi = Fosfato Inorganico

❖ PMM = Primary Mitochondrial Myopathy

❖ RNA = Acido Ribonucleico ❖ ROS = Reactive Oxygen

Species

❖ RRF = Ragged Red Fibers ❖ SDH = Succinato-Deidrogenasi ❖ SF-36 = Short-Form Healthy

Survey 36

❖ SNC = Sistema Nervoso Centrale

❖ tRNA = RNA Transfer ❖ TWST = Timed Water

Swalloring test

❖ WHYMPI = West Heaven-Yale Multidimensional Pain

103

11.

BIBLIOGRAFIA

• Argov Z. 1998. Functional evaluation techniques in mitochondrial disorders. Eur Neurol, 39:65-71.

• Apolone G, Mosconi P. 1998. The Italian SF-36 Health Survey: translation, validation and norming. J Clin Epidemiol, 51:1025-36.

• Barshop BA. 2004. Metabolomic approaches to mitochondrial disease: correlation of urine organic acids. Mitochondrion, 4:521-7.

• Battisti C, Formichi P, Cardaioli E, et al. 2004. Cell response to oxidative stress induced apoptosis in patients with Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry, 75:1731-6.

• Bianchi MC, Sgandurra G, Tosetti M, et al. 2007. Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies. Biosci Rep, 27:69-85.

• Bohannon RW. 2006. Reference values for the five-repetition sit-to-stand test: a descriptive meta-analysis of data from elders. Percept Mot Skills; 103(1):215‐222

• Chen RS, Huang CC, Chu NS. 1997. Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study. Eur Neurol, 37:212-8.

• Chinnery P, Majamaa K, Turnbull D, et al. 2006. Treatment for mitochondrial disorders. Cochrane Database Syst Rev, 1:CD004426. • Davis RL1, Liang C, Edema-Hildebrand F, Riley C, Needham M, Sue CM

2013. Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease. Neurology. 2013 Nov 19;81(21):1819-26

• Debray FG, Mitchell GA, Allard P, et al. 2007. Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem, 53:916-21.

• DeStefano N, Matthews PM, Ford B, et al. 1995. Short-term dichloracetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology, 45:1193-8.

• DiMauro S, Schon EA. 2003. Mitochondrial respiratory-chain diseases. N Engl J Med, 348:2656-68.

104

• DiMauro S, Tay S, Mancuso M. 2004. Mitochondrial

encephalomyopathies: diagnostic approach. Ann N Y Acad Sci, 1011: 217-31.

• Filosto M, Mancuso M. 2007. Mitochondrial diseases: a nosological update. Acta Neurol Scand, 115:211-21.

• Filosto M, Tomelleri G, Tonin P, et al. 2007. Neuropathology of mitochondrial diseases. Biosci Rep, 27:23-30.

• Genova ML, Pich MM, Bernacchia A, et al. 2004. The mitochondrial production of reactive oxygen species in relation to aging and pathology. Ann N Y Acad Sci, 1011: 86-100.

• Guralnik JM1, Ferrucci L, Simonsick EM, Salive ME, Wallace RB 1995. Lower-extremity function in persons over the age of 70 years as a predictor of subsequent disability. N Engl J Med. 1995 Mar 2;332(9):556- 61

• Haas RH, Parikh S, Falk MJ, et al. 2007. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics, 120:1326-33. • Hanisch F, Eger K, Bork S, et al. 2006. Lactate production upon short-

term non-ischemic forearm exercise in mitochondrial disorders and other myopathies. J Neurol, 253:735-40.

• Heike A. Bischoff Hannes B. Stähelin Andreas U. Monsch Maura D. Iversen Antje Weyh Margot von Dechend Regula Akos Martin Conzelmann Walter Dick Robert Theiler 2003. Identifying a cut‐off point for normal mobility: a comparison of the timed ‘up and go’ test in community‐dwelling and institutionalised elderly women. Age and Ageing, Volume 32, Issue 3, 1 May 2003, Pages 315–320

• Klopstock T, Querner V, Schmidt F, et al. 2000. A placebo-controlled crossover trial of creatine in mitochondrial diseases. Neurology, 55:1748- 51.

• K M Nathadwarawala, J Nicklin, C MWiles. 1992. A timed test of swallowing capacity for

• neurological patients. Journal of Neurology, Neurosurgery, and Psychiatry; 55:822-825

• Kuhl CK, Layer G, Traber F, et al. 1994. Mitochondrial encephalomyopathy: correlation of P-31 exercise MR spectroscopy with clinical findings. Radiology, 192:223-30.

105 • Liet JM, Pelletier V, Robinson BH, et al. 2003. The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deciency: a doubleblind randomized crossover clinical trial. J Pediatr, 142:62-6.

• Mancuso M, Coppede F, Migliore L, et al. 2006. Mitochondrial dysfunction, oxidative stress and neurodegeneration. J Alzheimers Dis, 10: 59-73.

• Mancuso M, Coppedè F, Murri L, et al. 2007c. Mitochondrial cascade hypothesis of Alzheimer's disease: myth or reality? Antioxid Redox Signal, 9:1631-46.

• Mancuso M, Filosto M, Choub A, et al. 2007a. Mitochondrial DNA- related disorders. Biosci Rep, 27:31-7.

• Mancuso M, Petrozzi L, Filosto M, et al. 2007b. MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. Biochem Biophys Res Commun, 354:1058-60.

• Mancuso M, McFarland R, Klopstock T, Hirano M 2017. Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. Neuromuscul Disord. 2017 December; 27(12): 1126–1137

• McFarland R, Taylor RW, Turnbull DM. 2002. The neurology of mitochondrial DNA disease. Lancet Neurol, 1:343-51.

• Meulemans A, Gerlo E, Seneca S, et al. 2007. The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders. Acta Neurol Belg, 107:78-83.

• Migliore L, Molinu S, Naccarati A, et al. 2004. Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy. Mutagenesis, 19:43-9.

• Miyamoto s, et al. 2000. Clinical Correlates and Prognostic Significance of Six-minute Walk Test in Patients with Primary Pulmonary Hypertension; Am J Respir Crit Care Med 2000, 161:487–492

• Mohammad Hossein Salehi, Behnam Kamalidehghan, Massoud Houshmand, Omid Aryani, Majid Sadeghizadeh, Mir Majid Mossalaeie 2013. Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary

106 mitochondrial disorders (Friedreich Ataxia). November 2013, Volume 40, Issue 11, pp 6495–6499

• Morava E, Hogeveen M, De Vries M, et al. 2006. Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism. Biol Neonate, 90:207-9.

• MullerW, Reimers CD, Berninger T, et al. 1990. Coenzyme Q10 in ophthalmoplegia plus - a double blind, cross over therapeutic trial. J Neurol Sci, 98S:442.

• Naini A, Kaufmann P, Shanske S, et al. 2005. Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox". J Neurol Sci, 229-230:187-93.

• Paul, S. S., Sherrington, C., Canning, C. G., C., V. S., T., J. C., & Lord, S. R. (2014). The Relative Contribution of Physical and Cognitive Fall Risk Factors in People with Parkinson’s Disease: A Large Prospective Cohort Study. Neurorehabilitation and Neural Repair, 28(3), 282–290.

• Pfeffer G1, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Cochrane Database Syst Rev. 2012 Apr 18;(4):CD004426.

• Ricci JE, Munoz-Pinedo C, Fitzgerald P, et al. 2004. Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain. Cell, 117:773-86.

• Sanders DB, Guptill JT, Aleš KL, Hobson-Webb LD, Jacobus DP, et al.

2018. Reliability of the triple-timed up-and-go test. Muscle Nerve.

Jan;57(1):136-139.

• Schaefer AM, McFarland R, Blakely EL, et al. 2008. Prevalence of mitochondrial DNA disease in adults. Ann Neurol, 63:35-39.

• Schaefer AM, Phoenix C, Elson JL, et al. 2006. Mitochondrial disease in adults: a scale to monitor progression and treatment. Neurology, 66:1932- 4.

• Schwartz M, Vissing J. 2002. Paternal inheritance of mitochondrial DNA. N Engl J Med, 347:576-80.

• Siciliano G, Manca ML, Renna M, et al. 2000. Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies. Neuromuscul Disord, 10:40-5.

107 • Siciliano G, Volpi L, Piazza S, et al. 2007. Functional diagnostics in

mitochondrial diseases. Biosci Rep, 27:53-67.

• Suomalainen A1, Elo JM, Pietiläinen KH, Hakonen AH et al. 2011. Lancet Neurol. Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7.

• Taivassalo T, Jensen TD, Kennaway N, et al. 2003. The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain, 126:413-23.

• Taivassalo T, Matthews PM, De Stefano N, et al. 1996. Combined aerobic training and dichloroacetate improve exercise capacity and indices of aerobic metabolism in muscle cytochrome oxidase deficiency. Neurology, 47:529-34.

• Tarnopolsky MA, Roy BD, MacDonald JR. 1997. A randomized controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve; 20:1502-9.

• Tarnopolsky M, Stevens L, MacDonald JR, et al. 2003. Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing. Muscle Nerve, 27:359-66.

• Vives-Bauza C, Gonzalo R, Manfredi G, et al. 2006. Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA. Neurosci Lett, 391:136-41.

• Wortmann S, Rodenburg RJ, Huizing M, et al. 2006. Association of 3- methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab, 88:47-52. • Yano S, Li L, Le TP, et al. 2003. Infantile mitochondrial DNA depletion

syndrome associated with methylmalonic aciduria and 3-methylcrotonyl- CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis, 26:481-8.

• Yatsuga S1, Fujita Y2, Ishii A3, Fukumoto Y4, Arahata H5, Kakuma T6, Kojima T7, Ito M2, Tanaka M8, Saiki R1, Koga Y 2015. Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders. Ann Neurol. 2015 Nov;78(5):814-23

Documenti correlati