?url_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Adc&rft.relation=https%3A%2F%2Fdoktori.bibl.u-szeged.hu%2Fid%2Feprint%2F758%2F&rft.title=Investigations+in+the+Hungarian+Multiple+Sclerosis+Patient+Population%3A+New+Data+on+the+Genetic+Background+and+Validation+of+the+Fatigue+Impact+Scale&rft.creator=+Losonczi+Erika&rft.subject=03.02.+Klinikai+orvostan&rft.description=Multiple+sclerosis+(MS)+is+a+chronic+inflammatory+demyelinating+disease+of+the+central+nervous+system.+The+disease+is+heterogeneous%2C+which+results+in+different+clinical+manifestations.+In+the+majority+of+MS+patients%2C+the+disease+begins+with+a+relapsing+course+(relapsing-remitting+form%2C+RRMS)%2C+characterized+by+relapses+and+remissions%2C+and+followed+by+a+progressive+phase+(secondary+progressive+MS%2C+SPMS).+In+a+smaller+subset+of+patients%2C+the+relapsing+phase+is+not+observed+and+the+disease+progresses+from+the+beginning+(primary+progressive+form%2C+PPMS).+The+appearance+of+the+disease+is+determined+by+a+combination+of+exogenous+factors+and+the+genetic+background.%0D%0ATwo+of+the+genes+whose+potential+association+emerged+from+the+analyses+published+previously+by+our+MS+Workgroup+were+selected+for+further+analysis%3A%0D%0A%E2%80%A2%09Tumour+necrosis+factor+(TNF)+is+a+proinflammatory+cytokine+involved+in+the+pathogenesis+of+infectious+and+autoimmune+disorders%2C+including+MS.+The+human+TNF+gene+maps+to+chromosome+6p21.3+in+the+highly+polymorphic+MHC+region.+The+chromosome+location+suggests+that+TNF+%CE%B1+single+nucleotide+polymorphisms+(SNPs)+may+be+involved+in+influencing+the+disease+course+during+MHC-associated+diseases+such+as+MS.%0D%0A%E2%80%A2%09Apolipoprotein+E+(ApoE)%2C+an+important+glycoprotein+in+the+transport%2C+uptake+and+redistribution+of+cholesterol%2C+is+necessary+in+nerve+tissue+repair.+The+APOE+gene+(APOE)+is+involved+in+neurodegenerative+diseases%2C+the+best-known+association+being+that+between+the+APOE+%CE%B54+allele+and+Alzheimer%E2%80%99s+disease.%0D%0AOur+primary+aims+were+a+multicentre+assessment+of+the+possible+influence+of+the+TNF-%CE%B1+-376+polymorphism+and+of+the+APOE+gene+on+the+susceptibility+to+PPMS+in+Hungary.+Polymerase+chain+reaction+and+restriction+fragment+length+polymorphism+were+carried+out+on+45+PPMS+patients%2C+45+age+and+sex-matched+RRMS+patients+and+45+healthy+controls+(HCs).%0D%0AIn+our+study%2C+the+GG+genotype+and+the+guanine+allele+(G)+in+the+TNF-%CE%B1+gene+at+position+-376+were+detected+significantly+more+often+in+the+PPMS+group+than+in+the+HC+group.+As+regards+the+APOE+gene%2C+the+number+of+PPMS+patients+without+the+%CE%B52+allele+was+found+to+be+notably+high%2C+whilst+the+%CE%B52+allele+was+overrepresented+in+the+RRMS+group.+A+markedly+high+frequency+of+the+%CE%B54+allele+was+found+in+the+PPMS+group+and+a+very+low+frequency+in+the+HC+group.+As+concerns+the+clinical+parameters%2C+significant+differences+were+observed+between+the+RRMS+and+PPMS+groups.+Differences+were+also+detected+regarding+the+Expanded+Disability+Status+Scale+(EDSS)+and+Multiple+Sclerosis+Severity+Score+(MSSS)+scores+when+the+patients+were+grouped+according+to+the+presence+or+absence+of+the+%CE%B52+allele.+All+of+the+observed+differences+in+the+clinical+parameters+disappeared+when+the+patients+were+further+stratified+according+to+the+type+of+MS.%0D%0AOur+findings+suggest+that+the+G+allele+at+position+-376+of+the+TNF-%CE%B1+gene+may+be+one+of+the+factors+responsible+for+progression+in+PPMS%2C+and+that+the+presence+of+the+%CE%B52+and+%CE%B54+alleles+may+play+a+role+in+the+development+of+the+disease.+However%2C+when+any+type+of+the+disease+has+already+developed%2C+the+alleles+show+no+association+with+the+clinical+parameters.%0D%0AIn+addition+to+the+genetic+investigations%2C+as+a+secondary+aim+we+intended+to+better+understand+fatigue+a+very+important+feature+of+MS.+Fatigue+is+one+of+the+most+frequent+complaints+of+patients+with+MS.+The+Fatigue+Impact+Scale+(FIS)%2C+one+of+the+30+available+fatigue+questionnaires%2C+is+commonly+applied+because+it+evaluates+multidimensional+aspects+of+fatigue.+An+objective+questionnaire+for+evaluation+of+the+impact+of+fatigue+in+Hungarian+MS+patients+has+not+yet+been+approved.+On+the+basis+of+our+previous+experience+with+the+adaptation+and+validation+process+of+the+Multiple+Sclerosis+Quality+of+Life+Instrument%2C+we+set+out+to+test+the+validity%2C+test-retest+reliability+and+internal+consistency+of+the+Hungarian+version+of+the+FIS.+One+hundred+and+eleven+MS+patients+and+85+HCs+completed+the+FIS+and+the+Beck+Depression+Inventory+(BDI)%2C+a+large+majority+of+them+on+2+occasions%2C+3+months+apart.%0D%0AThe+total+FIS+score+and+subscale+scores+differed+statistically+between+the+MS+patients+and+the+HCs+in+both+FIS+sessions.+In+the+test-retest+reliability+assessment%2C+the+ICCs+were+statistically+high+in+both+the+MS+and+HC+groups.+Cronbach%E2%80%99s+alpha+values+were+also+notably+high.+Consequently%2C+our+results+indicate+that+the+FIS+can+be+regarded+as+a+valid+and+reliable+scale+with+which+to+improve+our+understanding+of+the+impact+of+fatigue+on+the+health-related+quality+of+life+in+MS+patients+without+severe+disability.&rft.date=2011-05-23&rft.type=Disszert%C3%A1ci%C3%B3&rft.type=NonPeerReviewed&rft.format=application%2Fpdf&rft.language=en&rft.identifier=https%3A%2F%2Fdoktori.bibl.u-szeged.hu%2Fid%2Feprint%2F758%2F10%2F2011_losonczi_erika.pdf&rft.format=application%2Fpdf&rft.language=hu&rft.identifier=https%3A%2F%2Fdoktori.bibl.u-szeged.hu%2Fid%2Feprint%2F758%2F3%2Fmagyar_nyelv%25C5%25B1_%25C3%25B6sszefoglal%25C3%25B3.pdf&rft.format=application%2Fpdf&rft.language=en&rft.identifier=https%3A%2F%2Fdoktori.bibl.u-szeged.hu%2Fid%2Feprint%2F758%2F2%2FSummary_of_Ph.D.pdf&rft.format=application%2Fpdf&rft.language=hu&rft.identifier=https%3A%2F%2Fdoktori.bibl.u-szeged.hu%2Fid%2Feprint%2F758%2F1%2FPhd_Final_egyben.pdf&rft.identifier=+++Losonczi+Erika%0A+++Investigations+in+the+Hungarian+Multiple+Sclerosis+Patient+Population%3A+New+Data+on+the+Genetic+Background+and+Validation+of+the+Fatigue+Impact+Scale.%0A++Doktori+%C3%A9rtekez%C3%A9s%2C+Szegedi+Tudom%C3%A1nyegyetem+(2000-).+%0A(2011)++++(K%C3%A9ziratban)++&rft.language=eng