mis. In addition SSc fibroblasts exhibited a contractile rate up to 600 % higher than their normal counter parts, reaching tensional forces as high as 160 dynes/million cells. Response to applied mechanical load demonstrated that cells of SSc origin responded at a greater rate in terms of dynes/hr, indeed fibroblasts from SSc origin restored matrix tension at a contractile rate significantly higher than NDFs (p
large Tm decrease found in helices with two mutant αl(I) chains demonstrates the importance of interactions of X and Yresidues in αl(I)/α2(I) on helix stability. The <strong>pro</strong>found effects of the register shift on chain interactions, helix stability and on fibril and matrix incorporation correlate with the severe clinical consequences of these mutations. TARGETED MUTATION OF THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE IN MICE RESULTS IN A CHONDRODYSPLASIA PHENOTYPE. A. Rossi1 ,C.Tiveron2 ,R.Piazza1 ,L.Tatangelo2 , S. Della Torre1 ,A.Forlino1 ,A. Superti-Furga3 and G. Cetta1 . 1Dept. of Biochemistry, University of Pavia, Via Taramelli 3/B, I-27100 Pavia, Italy; e-mail: antrossi@unipv.it; 2Centro Ricerca Sperimentale, Istituto Regina Elena, Rome; 3Department of Pediatrics, University of Zurich, Switzerland. Introduction. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (5LC26A2) have been associated with a family of recessive chondrodysplasias including, in order of increasing severity, a mild form of multiple epiphyseal dysplasia, diastrophic dysplasia (DTD), atelosteogenesis type 2 and achondrogenesis 1B. The gene encodes for a widely distributed sulfate-chloride antiporter of the cell membrane whose function is crucial for the uptake of inorganic sulfate, which is needed for <strong>pro</strong>teoglycan (PG) sulfation. A correlation between the nature of the mutations the residual function of the sulfate transporter, the degree of PG sulfation and the different clinical phenotypes have been traced. However several aspects regarding the role of PG sulfation in skeletal development and the etiology of DTDST chondrodysplasias, which cannot be directly studied in patients,have to be elucidated;for these purposes we have generated a knockin mouse model for DTD. Methods. We have generated a transgenic mouse homozygous for a A386V substitution, already detected in a DTD patient, in the dtdst by homologous recombination in embryonic stem cells (ES AB1 were kindly <strong>pro</strong>vided by Dr. A. Bradley, Houston). Results: By direct observation oftransgenic animals, X-rays and differential staining of whole mice with Alizarin Red S and Alcian blue we have observed that heterozygous animals for the A386V substitution are phenotypically normal. In contrast homozygous mice for the mutation grow slowly with an overall shorter skeletal system and reduced body weight compared with normal litter mates. Biochemical analyses of the animals are currently under way. Discussion.These data demonstrate that the DTD mutation introduced in the murine dtdtst locus results in a chondrodysplasia phenotype with the same severity as human DTD. Work supported by Telethon-Italy grant D.83, Italian MURST grant MM05148132-3 and Fondazione Cariplo. QUANTITATIVE AND HISTOLOGICAL ANALYSIS OF REPAIR TISSUE BIOPSIES FOLLOWING CHONDROCYTE IMPLAN- TATION. S. Dickinson,T. Sims,A. Hollander, C. Soranzo and G. Abatangelo. University of Bristol Academic Rheumatology, Bristol BS 10 SNB, UK. Introduction: Assessment of the quality of repair cartilage is dependent on the availability of reliable outcome measures. POHYBOVÉ ÚSTROJÍ, ročník 9, <strong>2002</strong>, č. <strong>3+</strong>4 115
- Page 2 and 3:
S˘kora a Malík s.r.o. Technickopr
- Page 4 and 5:
LOCOMOTOR SYSTEM Advances in Resear
- Page 6 and 7:
HAJNIŠ K, SUCHOMEL A. Kolmé rozm
- Page 8 and 9:
EVOLUTION 1970 - 2002 6 Figure 1 Fi
- Page 10 and 11:
8 Figure 7 3. Growth. Figure 8. Wit
- Page 12 and 13:
8. Bending avoids vascular danger a
- Page 14 and 15:
Figure 18. Flat and hollow back, lu
- Page 16 and 17:
Figure 24 Figure 24. Postural repos
- Page 18 and 19:
Figure 30 Figure 30. Life quality.
- Page 20 and 21:
from papillar lines. The main appro
- Page 22 and 23:
a do jisté míry variabilní. Víc
- Page 24 and 25:
Množství faktorů formujících s
- Page 26 and 27:
Femur Fibula Ulna nebo Femur Tibie
- Page 28 and 29:
PRSTOVÉ VZORY 26 oblouk smyčka v
- Page 30 and 31:
TYPY ČTYŘPRSTOVÉ RÝHY 1. klasic
- Page 32 and 33:
Obr. 3. Příklady aplikace dermato
- Page 34 and 35:
LADDER Obr. 5. Žebříčkovité us
- Page 36 and 37:
Dermatoglyfy a geometrické znaky (
- Page 38 and 39:
11. Fergusson - Smith, M. A.: Karyo
- Page 40 and 41:
Sborník konference Biomechanika č
- Page 42 and 43:
90. Kuklík, M., Straus, J.: Dermat
- Page 44 and 45:
Obr. 7. Pacientka s oboustranným c
- Page 46 and 47:
involvement, those with predominant
- Page 48 and 49:
plastickou dysplazii (Saul-Wilson)
- Page 50 and 51:
- Staehling-Hampton K.,Proll S.,Pae
- Page 52 and 53:
Tabulka 1:Aktualizovaná klasifikac
- Page 54 and 55:
52 LOCOMOTOR SYSTEM vol. 9, 2002, N
- Page 56 and 57:
54 LOCOMOTOR SYSTEM vol. 9, 2002, N
- Page 58 and 59:
56 LOCOMOTOR SYSTEM vol. 9, 2002, N
- Page 60 and 61:
58 LOCOMOTOR SYSTEM vol. 9, 2002, N
- Page 62 and 63:
60 HNĚVKOVSKÉHO APARÁT (modifiko
- Page 64 and 65:
Conclusions: PCH was effective in s
- Page 66 and 67: favour of DCF, which decreased to 2
- Page 68 and 69: - Lequesne M., (1994) Symptomatic c
- Page 70 and 71: 1. ÚVOD Bolest v oblasti bederní
- Page 72 and 73: analýzou k ověření jejich pevno
- Page 74 and 75: zatíženého modelu. Získané rea
- Page 76 and 77: Obr. 5: Flexe segmentu L4-L5 při z
- Page 78 and 79: Obr. 7: Stav napjatosti v obratlíc
- Page 80 and 81: elementu mezi pedikulárním šroub
- Page 82 and 83: 8. R. M. H. McMinn and R. T. Hutchi
- Page 84 and 85: SUMMARY It is necessary by a childr
- Page 86 and 87: kostí. Přitom v oblasti kolenníc
- Page 88 and 89: Obr. 3a, b: Měřené svislé a vod
- Page 90 and 91: Aplikace auxologických dat předpo
- Page 92 and 93: 90 LOCOMOTOR SYSTEM vol. 9, 2002, N
- Page 94 and 95: INTRODUCTION The perennial attentio
- Page 96 and 97: in every probands were measured bod
- Page 98 and 99: thoracic kyphosis and lumbar lordos
- Page 100 and 101: Secondly, we immobilised young heal
- Page 102 and 103: THE EFFECT OF POST-EXERCISE NUTRITI
- Page 104 and 105: tient leg forms (negative and posit
- Page 106 and 107: unit of LM than controls in proport
- Page 108 and 109: THE EFFECT OF VENOUS STASIS ON EXPE
- Page 110 and 111: vlastní HPLC metody pro stanovení
- Page 112 and 113: DEVELOPMENT OF SKELETAL PATTERN IN
- Page 114 and 115: and for the associated tertiary and
- Page 118 and 119: The purpose of this study was to ev
- Page 120 and 121: tosis is detected in situ in coI6al
- Page 122 and 123: correlated well with score DAS at t
- Page 124 and 125: ny. After many years of endeavor co
- Page 126 and 127: i vznik opozice palce. V experiment
- Page 128 and 129: nant genetics and biochemistry offe
- Page 130 and 131: ased PHC genetic disability program
- Page 132 and 133: limb development and haematopoiesis
- Page 134 and 135: etc. This group of pathological con
- Page 136 and 137: activity through expression of RANK
- Page 138 and 139: THE ORTHOSIS SPINOMED IMPROVES POST
- Page 140 and 141: to the Bucaco National Forest on Au
- Page 142 and 143: PETRTÝL M., MAŘÍK I., - Vybraná
- Page 144 and 145: MAŘÍKOVÁ O. - Symposium “Locom
- Page 146 and 147: www.ortotika.cz ortotika@ortotika.c
- Page 148 and 149: Tibiofemorální úhel 146 40 30 20
- Page 150 and 151: Tibiofemorální úhel 148 40 30 20
- Page 153 and 154: Ortopedická protetika Praha s.r.o.