neurofibromatosis 11

3
« EI_K ^@L' 82 MHAHFBHR 2??= ttt' e ipk '`rd 9??9 Aiqh Rhp`r} Ghxr`nkbr`fi}`qkq 9 tk}j Xgxqxil J{p`pkdfhg}i}k`g Fiqyxhrimkgd iq Lhpr`q{ Q Cjigmpxr %, IC Filj`}ri %, CC Mhhpic %% , CC ^hrfi % Ibq}ria} I aiqh `n Ghxr`nkbr`fi}`qkq 9 *GN9+ `aaxrrkgd kg iqq`aki}k`g tk}j q{ffh}rkail phrkpjhril ghr~h hglirdhfhg} igm fxl}kplh j{p`pkdfhg}hm fiaxlhq q}rkckgdl{ lkfk}hm }` }jh ghxr`nkbr`fiq, tk}j g`rfil }` fkgkfill{ rhmxahm qhgqi}k`gq, h~`ckgd i q}r`gd alkgkail qxqpkak`g `n a`&hzkq}hg} lhpr`fi}`xq lhpr`q{, kq bhkgd rhp`r}hm' Lhpr`q{ tiq rxlhm `x} b{ fkar`bk`l`dkail, jkq}`pi}j`l`dkail igm hlha}r`pj{qk`l`dkail q}xmkhq' ]jh aiqh kq kg}hrhq}kgd kg ~kht `n }jh j{p`pkdfhg}hm fiaxlhq `~hrl{kgd }jh ghxr`nkbr`fiq, tjkaj kq ig xgrhp`r}hm nhi}xrh `n GN9' « Qhgqi}k`gq `~hr }jh j{p`pkdfhg}hm pi}ajhq ~irkhm nr`f g`rf`& }` fkgkfill{ j{p`ihq}jh}ka' _hrkpjhril ghr~hq kgalxmkgd xlgir, rimkil ax}igh`xq igm a`ff`g phr`ghil thrh q{ffh}rkaill{ igm xgkn`rfl{ }jkachghm igm g`g&}hgmhr' ]jhrh tiq g` dl`~h igm q}`ackgd ighq}jhqki' Kg immk}k`g, }jhrh thrh fxl}kplh thll&mhnkghm j{phrpkdfhg}hm fiaxlhq `~hr }jh }rxgc igm hz}rhfk}khq qxddhq}k~h `n AILF igm izkllir{ nrhaclhq' Q{q}hfka hzifkgi}k`g mkm g`} rh~hil ig{ ibg`rfilk}{ ' Qlk}&lifp hzifkgi}k`g qj`thm Lkqaj g`mxlhq kg }jh krkq' I alkgkail mkidg`qkq `n GN9 tk}j i p`qqkbklk}{ `n a`hzkq}kgd Jigqhgq mkqhiqh tiq fimh mxh }` }jh prhqhgah `n kll& }` thll mhnkghm j{p`pkdfhg}hm fiaxlhq tk}j ~irkiblh qhgq`r{ l`qq igm q{ffh}rkail ghr~h }jkachgkgd' ]jh pi}khg} tiq hfpkrkaill{ q}ir}hm `g fxl}k&mrxd ig}klhpr`q{ }jhrip{' Fxl}kplh qckg bk`pqkhq thrh `b}ikghm nr`f j{p`pkdfhg}hm g`mxlh `~hr }jh bx}}`ac igm biac igm nr`f j{p`pkdfhg}hm fiaxlh `~hrl{kgd ippirhg}l{ g`rfil qckg, tjkaj rh~hilhm g`rfil hpkmhrfkq tk}j g`rfil gxfbhr igm fhligkui}k`g `n fhlig`a{}hq igm mhrfkq qj`tkgd izkil bxgmlhq `n  q{ffh}rkaill{ irrigdhm ghr~h nkbhrq kg~`l~kgd }jh xpphr igm fkm mhrfkq, qxddhq}k~h `n ghxr`nkbr`fi' ]jhrh tiq g` h~kmhgah `n lhpr`q{ `g b`}j jhfi}`z{lkg igm h`qkg igm Ukhjl Ghhlqhg q}ikg *Nkd' 2+' Qlk} qckg qfhirq n`r iakm&niq} biakllk thrh ghdi}k~h' Rimkil ax}igh`xq ghr~h bk`pq{ tiq qxddhq}k~h `n ghxr`nkbr`fi igm ghr~h a`gmxa}k`g q}xm{ tiq g`rfil' Jhgah, i nkgil mkidg`qkq `n GN9 tiq fimh tk}j xgxqxil pi}}hrg `n j{p`pkdfhg}i}k`g, tjkaj tiq prhm`fkgig}l{ `~hrl{kgd }jh ghxr`nkbr`fiq igm ig}klhpr`q{ }rhi}fhg} tiq prhfi}xrhl{ }hrfkgi}hm' Qkgah qxaj j{p`pkdfhg}i}k`g jiq g`} bhhg mhqarkbhm kg ghxr`nkbr`fi}`qkq, th nxr}jhr kg~hq}kdi}hm }` nkgm }jh p`qqk blh h}k`l`d{ ' Nkrf q}r`ckgd `n j{p`pkdfhg}hm qckg pr`mxahm j{phrihfki igm jkq}ifkgh }hq} *?'9fl `n 959?,??? jkq}ifkgh j{mr`ajl`rkmh kgeha}hm kg}rimhrfill{ }` hlkak} hr{}jhfi, tjhil igm nlirh rhqp`gqh+ tiq p`qk}k~h `g b`}j }jh j{p`pkdfhg}hm igm g`rfil qckg, Mhpir}fhg}q `n %Mhrfi}`l`d{ igm ^hghrh`l`d{ igm %%_j{qk`l`d{, Ill Kgmki Kgq}k}x}h `n Fhmkail Qakhgahq, Ght Mhljk, Kgmki' Rhahk~hm 5 1?'4'2??=3 Rh~kqhm 5 92'9?'2??=3 Iaahp}hm 5 2:'9?'2??= K G]R@MXA]K@G G hxr`nkbr`fi}`qkq 9 *GN9+ `r ~`g Rhaclkgdjixqhgq mkqhiqh kq i a`ff`g, ix}`q`fil m`fkgig}, ghxr`ax}igh`xq mkq`rmhr tk}j ig kgakmhgah `n 9 kg 1??? bkr}jq' ]jh mkidg`qkq kq biqhm `g i dr`xp `n alkgkail q}kdfi}i, tjkaj kgalxmh aikn&ix&lik} fiaxlhq *AILF+, ghxr`nkbr`fiq igm kg}hr}rkdkg`xq nrhaclkgd *izkllir{ `r kgdxkgil+' 9 _hrkpjhril ghr~h hglirdhfhg}, il}j`xdj i thll&cg`tg nhi}xrh `n }jkq a`gmk}k`g, jiq `n}hg p`qhm mkidg`q}ka mklhffi tk}j lhpr`q{' T h rhp`r} ig kg}hrhq}kgd aiqh `n GN9, kg tj`f q{ffh}rkail ghr~h hglirdhfhg} kg iqq`aki}k`g tk}j fxl}kplh, q{ffh}rkaill{ mkq}rkbx}hm j{p`pkdfhg}hm fiaxlhq `~hr }jh }rxgc igm hz}rhfk}khq igm jibk}i}k`g kg ig hgmhfka irhi n`r lhpr`q{, lhm }` q}r`gd alkgkail qxqpkak`g `n a`ga`fk}ig} lhpr`fi}`xq lhpr`q{ }` }jh hz}hg} `n kgk}ki}kgd ig}klhpr`q{ }rhi}fhg}' Th ilq` qhhc }` jkdjlkdj} xgxqxil pi}}hrg `n j{p`pkdfhg}i}k`g kg GN9, tjkaj tiq q}rkckgdl{ l`ailkuhm }` }jh xgmhrl{kgd ghxr`nkbr`fiq' AIQHRH_@R] I 2? {hirq fig, rhqkmhg} `n Bkjir, prhqhg}hm tk}j fxl}kplh iq{fp}`fi}ka pipxlhq igm g`mxlhq, tjkaj jh jim g`}kahm qkgah }jh idh `n qkz {hirq' Qkgah }jrhh {hirq, jh ilq` g`}kahm j{p`pkdfhg}i}k`g `~hr }jhqh lhqk`gq' ]jhrh tiq g` jkq}`r{ `n qhkuxrhq `r qhgq`r{ l`qq' Nifkl{ jkq}`r{ tiq g`} qkdgknkaig}' @g hzifkgi}k`g, fxl}kplh, q`n}, kll&mhnkghm pipxlhq, pliyxhq igm g`mxlhq thrh prhqhg} `~hr }jh niah, }rxgc igm hz}rhfk}khq tk}j `~hrl{kgd j{p`pkdfhg}i}k`g bx} g` i}r`pj{ `r qpirqhgkgd `n ipphgmidhq' ]jh j{p`pkdfhg}i}k`g ilq` hz}hgmhm }` imeiahg} ippirhg}l{ g`rfil qckg *Nkd' 9+'

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Page 1: Neurofibromatosis 11

8/9/2019 Neurofibromatosis 11

http://slidepdf.com/reader/full/neurofibromatosis-11 1/3

« EI_K • ^@L' 82 • MHAHFBHR 2??= ttt'eipk'`rd 9??9

Aiqh Rhp`r}

Ghxr`nkbr`fi}`qkq 9 tk}j Xgxqxil J{p`pkdfhg}i}k`g

Fiqyxhrimkgd iq Lhpr`q{

Q Cjigmpxr %, IC Filj`}ri %, CC Mhhpic %% , CC ^hrfi %

Ibq}ria}

I aiqh `n Ghxr`nkbr`fi}`qkq 9 *GN9+ `aaxrrkgd kg iqq`aki}k`g tk}j q{ffh}rkail phrkpjhril ghr~h

hglirdhfhg} igm fxl}kplh j{p`pkdfhg}hm fiaxlhq q}rkckgdl{ lkfk}hm }` }jh ghxr`nkbr`fiq, tk}j g`rfil

}` fkgkfill{ rhmxahm qhgqi}k`gq, h~`ckgd i q}r`gd alkgkail qxqpkak`g `n a`&hzkq}hg} lhpr`fi}`xq lhpr`q{,

kq bhkgd rhp`r}hm' Lhpr`q{ tiq rxlhm `x} b{ fkar`bk`l`dkail, jkq}`pi}j`l`dkail igm hlha}r`pj{qk`l`dkail

q}xmkhq' ]jh aiqh kq kg}hrhq}kgd kg ~kht `n }jh j{p`pkdfhg}hm fiaxlhq `~hrl{kgd }jh ghxr`nkbr`fiq,

tjkaj kq ig xgrhp`r}hm nhi}xrh `n GN9' «

Qhgqi}k`gq `~hr }jh j{p`pkdfhg}hm pi}ajhq ~irkhm nr`f

g`rf`& }` fkgkfill{ j{p`ihq}jh}ka' _hrkpjhril ghr~hq

kgalxmkgd xlgir, rimkil ax}igh`xq igm a`ff`g phr`ghil thrh

q{ffh}rkaill{ igm xgkn`rfl{ }jkachghm igm g`g&}hgmhr' ]jhrh

tiq g` dl`~h igm q}`ackgd ighq}jhqki' Kg immk}k`g, }jhrh

thrh fxl}kplh thll&mhnkghm j{phrpkdfhg}hm fiaxlhq `~hr }jh

}rxgc igm hz}rhfk}khq qxddhq}k~h `n AILF igm izkllir{

nrhaclhq' Q{q}hfka hzifkgi}k`g mkm g`} rh~hil ig{ ibg`rfilk}{'

Qlk}&lifp hzifkgi}k`g qj`thm Lkqaj g`mxlhq kg }jh krkq' I

alkgkail mkidg`qkq `n GN9 tk}j i p`qqkbklk}{ `n a`hzkq}kgd

Jigqhg‛q mkqhiqh tiq fimh mxh }` }jh prhqhgah n kll& }` thll

mhnkghm j{p`pkdfhg}hm fiaxlhq tk}j ~irkiblh qhgq`r{ l`qqigm q{ffh}rkail ghr~h }jkachgkgd' ]jh pi}khg} tiq hfpkrkaill{

q}ir}hm `g fxl}k&mrxd ig}klhpr`q{ }jhrip{'

Fxl}kplh qckg bk`pqkhq thrh `b}ikghm nr`f j{p`pkdfhg}hm

g`mxlh `~hr }jh bx}}`ac igm biac igm nr`f j{p`pkdfhg}hm

fiaxlh `~hrl{kgd ippirhg}l{ g`rfil qckg, tjkaj rh~hilhm

g`rfil hpkmhrfkq tk}j g`rfil gxfbhr igm fhligkui}k`g `n 

fhlig`a{}hq igm mhrfkq qj`tkgd izkil bxgmlhq `n 

q{ffh}rkaill{ irrigdhm ghr~h nkbhrq kg~`l~kgd }jh xpphr igm

fkm mhrfkq, qxddhq}k~h `n ghxr`nkbr`fi' ]jhrh tiq g`

h~kmhgah n lhpr`q{ g b`}j jhfi}`z{lkg igm h`qkg igm Ukhjl

Ghhlqhg q}ikg *Nkd' 2+' Qlk} qckg qfhirq n`r iakm&niq} biakllk

thrh ghdi}k~h' Rimkil ax}igh`xq ghr~h bk`pq{ tiq qxddhq}k~h

`n ghxr`nkbr`fi igm ghr~h a`gmxa}k`g q}xm{ tiq g`rfil'

Jhgah, i nkgil mkidg`qkq `n GN9 tiq fimh tk}j xgxqxil

pi}}hrg `n j{p`pkdfhg}i}k`g, tjkaj tiq prhm`fkgig}l{

`~hrl{kgd }jh ghxr`nkbr`fiq igm ig}klhpr`q{ }rhi}fhg} tiq

prhfi}xrhl{ }hrfkgi}hm' Qkgah qxaj j{p`pkdfhg}i}k`g jiq

g`} bhhg mhqarkbhm kg ghxr`nkbr`fi}`qkq, th nxr}jhr

kg~hq}kdi}hm }` nkgm }jh p`qqkblh h}k`l`d{' Nkrf q}r`ckgd `n 

j{p`pkdfhg}hm qckg pr`mxahm j{phrihfki igm jkq}ifkgh }hq}

*?'9fl `n 959?,??? jkq}ifkgh j{mr`ajl`rkmh kgeha}hm

kg}rimhrfill{ }` hlkak} hr{}jhfi, tjhil igm nlirh rhqp`gqh+

tiq p`qk}k~h `g b`}j }jh j{p`pkdfhg}hm igm g`rfil qckg,

Mhpir}fhg}q `n %Mhrfi}`l`d{ igm ^hghrh`l`d{ igm %%_j{qk`l`d{,Ill Kgmki Kgq}k}x}h `n Fhmkail Qakhgahq, Ght Mhljk, Kgmki'Rhahk~hm 5 1?'4'2??=3 Rh~kqhm 5 92'9?'2??=3 Iaahp}hm 5 2:'9?'2??=

KG]R@MXA]K@G

Ghxr`nkbr`fi}`qkq 9 *GN9+ `r ~`g Rhaclkgdjixqhg‛q

mkqhiqh kq i a`ff`g, ix}`q`fil m`fkgig},

ghxr`ax}igh`xq mkq`rmhr tk}j ig kgakmhgah n 9 kg 1??? bkr}jq'

]jh mkidg`qkq kq biqhm g i dr`xp n alkgkail q}kdfi}i, tjkaj

kgalxmh aikn&ix&lik} fiaxlhq *AILF+, ghxr`nkbr`fiq igm

kg}hr}rkdkg`xq nrhaclkgd *izkllir{ r kgdxkgil+'9 _hrkpjhril ghr~h

hglirdhfhg}, il}j`xdj i thll&cg`tg nhi}xrh `n }jkq a`gmk}k`g,

jiq `n}hg p`qhm mkidg`q}ka mklhffi tk}j lhpr`q{' Th rhp`r}

ig kg}hrhq}kgd aiqh `n GN9, kg tj`f q{ffh}rkail ghr~h

hglirdhfhg} kg iqq`aki}k`g tk}j fxl}kplh, q{ffh}rkaill{

mkq}rkbx}hm j{p`pkdfhg}hm fiaxlhq `~hr }jh }rxgc igm

hz}rhfk}khq igm jibk}i}k`g kg ig hgmhfka irhi n`r lhpr`q{, lhm

}` q}r`gd alkgkail qxqpkak`g `n a`ga`fk}ig} lhpr`fi}`xq

lhpr`q{ }` }jh hz}hg} `n kgk}ki}kgd ig}klhpr`q{ }rhi}fhg}' Th

ilq` qhhc }` jkdjlkdj} xgxqxil pi}}hrg `n j{p`pkdfhg}i}k`g

kg GN9, tjkaj tiq q}rkckgdl{ l`ailkuhm }` }jh xgmhrl{kgd

ghxr`nkbr`fiq'

AIQHRH_@R]

I 2? {hirq fig, rhqkmhg} n Bkjir, prhqhg}hm tk}j fxl}kplh

iq{fp}`fi}ka pipxlhq igm g`mxlhq, tjkaj jh jim g`}kahm

qkgah }jh idh `n qkz {hirq' Qkgah }jrhh {hirq, jh ilq` g`}kahm

j{p`pkdfhg}i}k`g `~hr }jhqh lhqk`gq' ]jhrh tiq g` jkq}`r{`n qhkuxrhq r qhgq`r{ l`qq' Nifkl{ jkq}`r{ tiq g`} qkdgknkaig}'

@g hzifkgi}k`g, fxl}kplh, q`n}, kll&mhnkghm pipxlhq, pliyxhq

igm g`mxlhq thrh prhqhg} ~hr }jh niah, }rxgc igm hz}rhfk}khq

tk}j `~hrl{kgd j{p`pkdfhg}i}k`g bx} g` i}r`pj{ `r

qpirqhgkgd `n ipphgmidhq' ]jh j{p`pkdfhg}i}k`g ilq`

hz}hgmhm }` imeiahg} ippirhg}l{ g`rfil qckg *Nkd' 9+'

Page 2: Neurofibromatosis 11

8/9/2019 Neurofibromatosis 11

http://slidepdf.com/reader/full/neurofibromatosis-11 2/3

9??2 ttt'eipk'`rd « EI_K • ^@L' 82 • MHAHFBHR 2??=

tjkaj rxlhm `x} }jh p`qqkbklk}{ `n kgarhiqhm q}kfxli}k`g `n 

~iq`a`gq}rka}`r nkbhrq n }jh ir}hrk`lhq kg }jhqh irhiq, iq qhhg

kg gh~xq ighfkaxq' ]jh p`qqkbklk}{ `n mharhiqhm rhdk`gil

bl``m nl`t kg }jh irhi n j{p`pkdfhg}i}k`g tiq ilq` mkqfkqqhm`g `bqhr~kgd }hfphri}xrh mknnhrhgah `n 9¿A bh}thhg }jh

j{p`pkdfhg}hm qckg *qj`thm jkdjhr }hfphri}xrh+ igm g`rfil

l``ckgd qckg `g a`g}ri li}hril qkmh, xqkgd i [QK _rhakqk`g

]jhrfkq}`r pr`bh *A`lkg B_&8?:+ tjkaj jiq i rigdh n 98¿A&

=8¿A igm iaaxria{ n ¹ ?'9¿A'

MKQAXQQK@G

]jhrh irh qh~hril rhp`r}q kg }jh lk}hri}xrh `n lhpr`q{

fkqmkidg`qhm iq ghxr`nkbr`fi `r GN9 bhkgd a`gnxqhm tk}j

Jigqhg‛q mkqhiqh bhaixqh `n q{ffh}rkail phrkpjhril ghr~h

}jkachgkgd'2,1 GN9 jiq ilq` bhhg rhp`r}hm }` a`hzkq} tk}j

lhpr`fi}`xq igm jkq}`km lhpr`q{ kg pi}khg}q bhl`gdkgd }`

hgmhfka irhiq n`r }jkq mkqhiqh'= Kg `xr aiqh, }jhrh tiq g`m`xb} ib`x} }jh mkidg`qkq `n GN9' Kg}hrhq}kgdl{, prhqhgah `n 

fxl}kplh j{p`pkdfhg}hm fiaxlhq tk}j ~irkiblh qhgq`r{ l`qq

kg iqq`aki}k`g tk}j q{ffh}rkail phrkpjhril ghr~h }jkachgkgd

kg ig kgfi}h `n Bkjir, i j{phrhgmhfka rhdk`g n`r lhpr`q{ kg

Kgmki, ir`xqhm q}r`gd alkgkail qxqpkak`g `n }jh a`&hzkq}hgah

`n }jh }t` mkqhiqhq' Lhpr`q{ tiq rxlhm `x} b{ mh}iklhm

fkar`bk`l`dkail, jkq}`pi}j`l`dkail igm hlha}r`pj{qk`l`dkail

q}xmkhq'

Kg GN9, b`}j j{phr& igm j{p`pkdfhg}hm fiaxlhq `aaxr'

J{p`pkdfhg}hm fiaxlhq irh ig xga`ff`g prhqhg}i}k`g, }t`

}{phq `n tjkaj ji~h bhhg mhqarkbhm b{ Rkaairmk igm

qxbqhyxhg}l{ b{ `}jhr ix}j`rq'8 ]jh nkrq} }{ph, qhhg kg 2 }` 1

( n aiqhq, rhqhfblh iqj&lhin fiaxlhq, ~ir{kgd kg qkuh nr`f 8

}` 98 ff igm irh r`xgm }` hllkp}kail nli} lhqk`gq tk}j g`rfil

xgmhrl{kgd qckg' ]jh qha`gm }{ph kq ‚pqhxm`i}r`pjka fiaxlhq‛

tk}j xgmhrl{kgd mhprhqqhm qckg, }ji} ji~h bhhg p`q}xli}hm

}` bh mxh }` rhpliahfhg} `n mhrfil a`llidhg b{ }jh ghxr`km

}kqqxh' J{p`pkdfhg}hm fiaxlhq a`gqkq}hg} tk}j gh~xq

igihfkaxq ji~h ilq` bhhg mhqarkbhm kg GN9, tjkaj tiq rxlhm

`x} kg `xr aiqh `g }jh biqkq `n ghdi}k~h jkq}ifkgh }hq}'>

J{phrpkdfhg}hm lhqk`gq qxaj iq ainë&ix lik} fiaxlhq

*AILF+, tjkaj irh mkqarh}h, xgkn`rfl{ pilh br`tg fiaxlhq,

irh i airmkgil nhi}xrh `n GN9, kg tjkaj }jhrh irh > `r f`rh

fiaxlhq 7 ?'8 af kg qkuh xgmhr 8 {hirq n idh igm 7 9'8 af kgimxl}q' Kg GN9, }jhqh fiaxlhq irh xgkn`rfl{ j{phrpkdfhg}hm

tk}j qf``}j b`rmhrq rhqhfblkgd ‚a`iq} `n Ailkn`rgki‛' ]jh{

irh ilq` prhqhg} kg `}jhr a`gmk}k`gq lkch FaAxgh&Ilbrkdj}

q{gmr`fh *p`l{`q}`}ka nkbr`xq m{qpliqki, prha`ak`xq pxbhr}{

igm pkdfhg}ir{ il}hri}k`gq+, kg tjkaj }jh{ }hgm }` bh ~hr{

lirdh, xgkli}hril, tk}j krrhdxlir igm riddhm b`rmhrq lkch ‚a`iq}

`n Fikgh‛, igm pir}kaxlirl{ kg~`l~kgd }jh n`rhjhim, gxajil

irhi, qiarxf igm bx}}`acq' AILFq fi{ ilq` bh iqq`aki}hm

tk}j Bl``f‛q q{gmr`fh, ]xbhr`xq qalhr`qkq, Qkl~hr&Rxqqhll

q{gmr`fh `r Ti}q`g q{gmr`fh'

Kg `xr GN9 pi}khg}, bhqkmhq }jh aliqqkail j{phrpkdfhg}hm

fiaxlhq tjkaj kgalxmhm AILFq igm nrhaclhq, j{p`pkdfhg}hm

fiaxlhq thrh ilq` prhqhg}, }jh j{p`pkdfhg}i}k`g bhkgd

q}rkckgdl{ l`ailkuhm }` ghxr`nkbr`fiq, tjkaj kq ig xgrhp`r}hm

nhi}xrh' Kgnia}, jkq}`pi}j`l`d{ nr`f gh n }jhqh lhqk`gq tk}j

g` alkgkaill{ mkqahrgiblh xgmhrl{kgd ghxr`nkbr`fi ilq`

qj`thm bxgmlhq `n ghxr`km }kqqxh kg }jh mhrfkq' Dhghrill{,

j{phrpkdfhg}i}k`g tk}j r tk}j`x} j{phr}rkaj`qkq ~hrl{kgd

ghxr`nkbr`fiq, hqphakill{ plhzkn`rf ghxr`nkbr`fiq, jiq bhhg

mhqarkbhm, }jh pi}j`dhgka fhajigkqf `n tjkaj kq xgalhir'8

Mhqpk}h mh}iklhm h~ilxi}k`g, th thrh ilq` xgiblh }` `nnhr ig

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