Y HQC VIET NAM THANG 6 - SO 2/2013 trgng de phat hien ngffdi mang gen benh cho eae
tiianh vien trong gia dinh, dae biet nhutig gia dinh cd tiien sff sinh con mac benh va tff van di tmyen chan doan trffdc sinh, tff van tien hdn nhan nham giam ty le tre sinh ra mac benh trong cpng dong.
V. KET L U A N :
10/16 (62,5%) benh nhan da dffdc phat hien dot bien vdi 6 loai dot bien khac nhau, trong do ty ie phat hien dot bien tren exon 2b eao nhat (25%); tiep den la exon 8, exon 13 (6,3%); exon 12 (3,1%). Opt bien S105X ed tan suat cao nhat (21,9%) va cd the la dot bien thffdng gap tren benh nhan Wilson d Viet Nam.
TAI UEU THAM K H A O :
1. Nguyen Thj Mai Hu'dng, Ngo Diem Ngpc, Yoo HW va cs (2010). Phat hien dot bien gen ATP78 gay benh Wilson. Tap chi Nhi Khoa. Tap 3, So 3&4, trang 236-240,
2. Gu YH, Kodama H, Du SL et al (2003). Mutation spectrum and polymorphisms In ATP7B identified on direct sequencing af all exons in Chinese Han and Hul ethnic patients with Wilson 'disease. Clin Genet. 64(6):479-84.
3. Mak CM, Lam CW, Tam S, et at (2008).
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity. J Hum Genet. 53(l):55-63.
-.. Ferenci P (2006). Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet. 120(2):151-9.
5. Wan L, Tsal CH, Tsal FJ et al, (2006).Mutation analysis of Taiwanese Wilson disease patients.
Biochem Biophys Res Commun.345{2):734-8.
6. Li XH, Lu Y, Ling Y et al (2011).CIinical and molecular characterization of Wilson's disease in China: identification 14 novel mutations. BMC Med Genet, 12:6.
7. Zhang Y, Wu Z.Y (2011). Wilson's disease in Asia.
Neurology Asia. 16(2):103-109.
CAT MOT P H A N THANH QUAN
TREN SUN N H A N CO TAO HINH KIEU N H A N - M O N G - T H A N H THIET
T o n g Xuan T h a n g *
TOM T A T :
Cat mpt phan thanh quan tren sun nhan co tao hinh kieu nhan-mong-thanh thiet la mot ky thuat mdi cat gan toan bp thanh quan nham loai bd hoan toan khoi u nhung vln giff dUdc chffc nang cd ban ciia thanh quan do la chffc nang thd, phat am va nuot. Chi dinh phau thuat phong phii, khong chi cho ung thU lang thanh mon gian doan T l , T2 ma con cho mot so T3, T4 ciia thanh quan. 125 benh nhan du'dc phau thuat va theo doi tff 2001 den 2008 tai benh vien TMH Trung Udng Ha npl.ket qua ve benh hoc ung thU va chffc n3ng 3ddc_ so sanh ngang bang v6l ky thuat cu nhung thdi gian nam vien ngan hon nhu'ng ky thuat cij la c6 the ap dung ca vdi ngUdi cao tuoi. C.H.E.P la mot ky thuat thich hdp de dieu tn ung thif tang thanh mon is cac giai doan benh va d cac Iffa tuoi.
Tdkhoa: Tao hinh nhan-mong-thanh thiet, ung thdd}anh guan, cat mot phan thanh guan.
' Tnrdng D^i hgc Y Hd Ngi
Phan bi#n khoa hpc: PGS.TS Nguyin Oinh Phuc
SUMMARY:
SUPRA-CRICOID PARTIAL LARYNGECTOMY WITH CRICO-HYO-EPIGLOTTO-PLASTY (CHEP)
Supra-cncQid partial laryngectomy with crico- tiyo-epiglotto-plasty is a new technic of near total laryngectomy to remove totally tumor but can preserve the mam functions of larynx include respiration, phonation and deglutition. The indications are varies, not only for T l , T2 but also for certain T3 and T4 of larynx cancers. 125 patient undergone this technic from 2001 to 2008 in OTO-RHINO-LARYNGOLOGY HOSPITAL in Hanoi. The carcinological results and functional results are compaired to the classic technic.
The young and aged groupe are compaired by statistic method. The The carcinological results and functional results are compatible to the classic technic, but the duration of hospitalization Is shorter than classic operation, there is no difference between the young and aged groupe. C.H.E.P is one intervention suitable 135
Y HQC VlgT NAM THANG 6 • S6 2/2013 to the glottic cancer in the different stage and different
aged patients.
Key word: CH.EP, larynx cancer, partial
laryngectomy.I. O^T
V A N D I :Ung thff thanh quan xuat phat chii yeu tff bleu md day thanh. Ung thff viing thffdng thanh mon It gSp, edn tang ha thanh mdn gSp dffdi 1%.
Do thanh quan cd nhieu chffc nSng quan trpng song cdn: nuot, thd, bao ve, ph^t am...
nen phau thuat viing nay ludn chffa dffng nhieu thach thffc.Neu chii trong qua
den benh tich thi phai hy sinh cac chffc nSng ciia thanh quan nhff trong c3t thanh quan toan phan va benh nhan trd thanh ngffdi tan tat.
Khi nhan manh nhieu den viee bao ton cac chffc nSng thi lai bd sdt cac benh ti'ch dan den benh tai phat
Viee ap dung ky thuat mo glal quyet dffdc het benh tich ma van bao ton dffdc cae chffc nang ciia thanh quan la ly tffdng nhat trong dieu trj ngoai khoa ung thff thanh quan.
Trong nghien cffu tren 125 benh nhan dffdc md theo phffdng phap cat mot phan thanh quan nhan cd tao hinh kieu Nhan - Mdng - Thanh thiet, tff 2001 den 2008 tai ben vien TMH TW Chung tdi nham mue tieu:
- Nghien c6U cac chi dmh dieu trj - Nghien ciTu nhiitig ffu-nhffdc diem ciia phffdng ph^p phau thuat. qua ket qua v§ m|t benh hpc ung thff va ve chffc nang
II. Ddi TUpNG VA PHUONG PHAP NGHIEN COO:
2.1. OoUu'c'ng:
Chiing tdi thu thap so lieu qua 125 benh nhan dffi?c mo va theo doi lien tue tff 2001 den 2008.
2.2. Phu'dng phap:
Nghien effu can thiep vdi phffdng phap' thong ke md ta.
T3p hdp ho sd, benh an tai khoa Bl Thu thap thdng tin theo benh an mau.
Xff ly sd lieu bSng ehffdng trinh Epi- Info.
III. KET QUA NGHIEN CCTU:
3.1. Chi djnh mo theo mot so tieu chi, 3.1.1. Chi dinh md tiieo gldl:
Ty le nam / nu" dffdc morNam gldi chiem ty le: 96% "
3.1.2. Chi dinh mdtheo tuoi:
Tuoi 50-59 chiem ty le eao nhat - Lff^ tudi tre nhat 35 va gia nhat 81 tuoi.
3.1.3. Chi dinh md theo kit qua md benh hpc.
Bang 1; Ket qua mo benh hoc
Mo benh hoc K bieu mo biet hoa cao K bieu mo xam lan K bieu mo biet hoa trung binh K bieu mo it biet hoa K bieu mo i<h6ng biet hoa Tonq so
SoBN ( n = 1 2 5 ) n
107 6 6 5 1 125
"/o 85,6
4,8 4,8 4,0 0,8 100,0
Chu yeu la ung thu" te bao bieu mo. Trong 86 benh nhan chi gap 1 u cd.
3.1. 4. Chi Sinh mo theo phan loai T.M.N.
Bang 2; Phan loai l<hoi u theo qiai doan T.l^l.N.
Khoi u Hach T l
T2 T3 T4
Tong so
NO 16 (12,8%) 87(68,1%)
16 (12,8) 6 (6,3%) 125 (100%)
N l
1
N2 N3
- 68,1% khoi u d giai doan T2N0 -19,1% khdi u d giai doan T3 va T'^.
-12,8% khdi u d giai doan T l
Y Hpc V | 6 T N A M T H A N G 6 -50 2/2013
3.2. Ket qua
3.2.1. KStqua ve mat chii'c nang.
Bang 3. So sanh ket qua ve mat chii'c nanq
^ ^ ^ ^ ^ C h i so Tac qiil ~~~~~-..., GUERIER PRADES PIOUET Bn Chung toi
SolirangBN 72
2 36 125
Thdi gian rut can nuyn
15
15
Thdi gian rut xonq
16 20 16 20
Thdi gian nam vien
23 28 25 21
-Thdi gian mang canuyn trung binh: 15 ngay.
-Thdi gian an bang xdng: 21 ngay -Thdi gian nam vien: 22 ngay 3.2.2. Kit giai phau benh sau md 3.2.2.1. Khdi u.
Bang 4: Ket qua xam lan khoi u
69 trffdng hdp eat dffdc toan bd khdi u; Lat cat lai vao td chffc lanh.
- 21 trffdng hdp lat cat lai edn te bao ung thu'.
- 34 lat eat them ed nghi ngd edn te bao ung thu' 3.2.2.2. Kit qua xam ian hach:
Bang 5: ket qua nao vet hach
- Biing phat tai eho sau mo: 3 -Tai phat hach: 2 - Di can: 1
-Xuat hien ung thff thff 2: 3
K^t qua b^nh hoc Xam lanCat h a Unq thu tai cho Nqhi nqd Am tinh Khonq ro
SoBN (n=125) n
21 65 2 34 2 1
16,8
%
52,0 1,6 27,2 1,6 0,8
So hach xam di can 1
2 3 Tonq so
SoBN (n = 125) n
7 2 1 10
5,6
%
1.6 0,8 8,0 Co 10 hach di can du'dc phat hien sau nao vet hach co
3.2.3. i<et qua ve mat benh hgc ung thu.
3.2.3.1. Ty le tai phat sau mo
Bang 6: Tif vonq lien quan den khoi uTai phat tai cho Tai phat hach Unq thu thir 2 Dican Tonq so
SoBN (n=125) n
3 2 3 1 9
"/o 2,4 1,6 2,4 0,8 7,2
Y HOC VlgT NAM T H A N G 6 - SO 2/2013 3.2.3.2. Ty 1$ song them sau mo;
• 94 2
" ^ ^ 89 04
-
« " B4.19
/
0-12tharg 12-24 2'1-36 ihang Ihang
36-48 ttiang
Bleu do 1: Ty le sdng them sau mo tinh theo thang
Bieu dd J?; Test Keplain-Mayer
3.2.3.3. So sanh ty le song them sau mo Bang 7: So sanh ket qua sonq them 5 nam sau mo.
~~ —--...^^^^ chi so Tac qia ^ — ~ ^ ^ U*CCOUREY
PIQUET GUERIER Bn chunq toi
Sau 5 nam 77,1
90 76 125
Tai phat tai cho 7,7 5.2 2.4 0,6
Di can hach
3.9 1.6 Ty le ehet do benh sau 5 nam:16%
Ty le sdng sau 5 nam: 8 4 %
3.2.3.4. Bienchdng va dl chdng sau mo:
a. Bien ehffng:
- Hoai tff vat da, ed: 2
- Nhilm triing: 2
- Viem phdi: 2 - Chay mau sau mo: 2 Phai nam phdng hoi tinh tieh cffe: 9 b. Di ehffngHep thanh quan sau m o : 34 trffdng hdp; do mang niem mac hoac sau tia xa: Dieu t n bang noi soi hoac laser
Sac phai m d khi quan, m d thdng da day: 1
3.2.3.5. So sanh kit qua ve mat chdc nang gida 2 nhom benh nhan dddi 70 tudi va tren 70 tudi
Bang S: So sanh ket qua ve mat chffc nang giJi^ 2 nhdm
^~~~~~-~—-^^^^^ Tudi Chi so ^ ^ ^ ^ - - - ^ _ _ ^ ^
danh gia chu'c nanq ~~——^^
Phai MKO Bo canuvn Bd xonq an Thdi qian nam vien
Du'di 70 tuoi 33 15 nqav 21 nqav 22 nqav
Tren 70 tuoi 6 9 nqay 19 nqay 27 nqav Khdng cd sff khac biet ve mat thdng ke giffa 2 nhdm benh nhan.
Phau thuat nay dddc ap dung ca tren benh nhan cao tudi.
Y HQC VIET NAM T H A N G 6 - SO 2/2013 IV. B A N L U A N :
4 . 1 Cac chj dinh dieu trj
Phffdng phap eat mdt phan thanh quan tren nhan cd tao hinh kieu Nhan - Mdng - Thanh thiet dffdc ap dung chii yeu cho ung thff bleu md day thanh day thanh giai doan T2.
Vdi glai doan T i b thi cat tren nhan cho phep kiem soat khdi u rdng rai hdn va tranh dffdc seo hep so vdi phffdng phap cat ban phan khae.
Bleu tri tia xa sau phau thuat.
- Vdi khoi u T3, T4 tia xa ed he thdng vao vi trf khdi u va hach.
- Cdn khdi u trong giai doan T2 trd xudng thi chi tia xa: Khi lat eat lai du'dng ti'nh va hach co dffdng ti'nh. Lieu tia xa thdng thu'dng tff 50 - 60 Gy.
4.2. Cac ldi diem cua Icy t h u a t - Ket qua benh hpc: Cd ket qua hoan toan vffdt trdi so vdi ky thuat kinh dien, the hien ty le song them sau md.
- Ket qua ve mat chffc nang;
Thdi gian mang canuyn trung binh 15 ngay.
Thdi gian nam vien eiia nhdm benh nhan chiing tdi 21 ngay, ngan hdn so vdi nhdm khac.
Chiing tdi khdng gidi han Iffa tudi trong ehi djnh mo (tff 32-84) dd la diem khae biet so vdi tac gia kinh dien.
Cac di ehffng sau md ehii yeu seo hep.
Trong sd eae benh nhan khd thd do seo hep deu giai quyet dffdc bang Laser qua npi soi.
V. KET LUAN:
CHEP la ky thuat cho phep md rdng chi djnh phau thuat ma van dat dffdc ty le song vffdt trpi
so vdi ky thuat cti, thich hdp vdi tinh hinh thffc te d Viet nam, gdp phan nang cao hieu qua dieu tri ung thff thanh quan trong chuyen nganh TMH va Ung thff hpc.
TAI LIEU T H A M K H A O :
1. Tong Xuan Thang va cong su" (2006), Cat mpt phan thanh quan-ha hong co tao hinh trong dieu tri cac khoi u viing hong-thanh quan Hpi nghj khoa hoc nganh Tai-Mui-Hong nam 2005, 99-104. hoc Viet Nam (1), 1978,29-39.
' TRAn HU'U Tuan (1993). Phau thuat bao ton chffc rang doi vdi ung thU thanh quan. Y hpc Viet Nam (7), 1993, 82-84.
3. TRAN HU'U TUac. Ung thU Thanh quan va Ha hong - Thanh quan
4 Bron L., Brosard E., Monier P., Pache P. (2000) Supracricoid Partial Laryngectomy with C.H.E.P and CH.P for Glottic and Supraglottic Carcinomas.
Laryngoscope, 2000, 100, 4, 627 - 634.
5. Crampette L., Garrel R., Gardiner Q.(1999).
Modified subtotal laryngectomy with cncohyoidoepiglottopexy-long term results in 81 patients. HEAD and NECK, 1999, Vol 21, 3, 95-102.
6. Graham J., Maclennan Ken (2000). Cancer spread in the larynx: a pathologic for conservation surgery. Head and Neck, May, 2000, 265-274.
7 Brasnu D., Laccourreye O., Chabardes E., Basset v., Menard M., Laccourreye H.(1993).
Chirurgie conservatnce du iar/nx comme alternative a la laryngectomie totale apres chimiotherapie neo- adjuvante-resultats preliminaires.Ann. Oto-Laryng., (Pans), 1993, 110,129-133.
DANH GIA HIEU QUA CAN THIEP VAT LY TRj LIEU CHO BENH NHAN VIEM QUANH KHCTP VAI TAI BENH VIEN DIEU D i r ^ G - PHUC HOI CHQC NANG HAI DlTOTNG N A M 2011
Pham Thj Nhuyen*
TOM T A T :
Viem quanh khdp vai (VQKV) la tat ca cac trUdng hdp dau va han che van dgng khdp vai do ton thUdng phan mem quanh khdp gdm: gan, cd, day chang, bao khcfp, loai trff ton thUdng phan dau xUdng, sun kh6p va mang hoat dich [4]. Viem quanh khdp vai tuy khong anh hUdng trUc tiep den tinh mang nhung gay ' Tnrdng Dgi hoc ky thuat y te Hai Duung Phan bi?n khoa hpc: PGS.TS Vu Dinh Chinh
dau ddn dai ding, han che van dgng, anh hu'dng den lao dpng va smh hoat [6]. Nghien cirU can thiep 145 BN VQKV tai benh vien Oieu dU9ng-Phuc hoi chffc nang Hai DUOng nam 2011: hau he't BN bj benh man tinh, ty le nam (57,2%) cao hdn nff (42,8%) va tang cao thugc nhom 50-59 tuoi (31,1%) va > 60 tuoi 139
