3+4+Supplementum/2012 - Společnost pro pojivové tkáně

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group/Name of Disorder Inheritance MIM No. Locus Gene Protein AD 215150 6p21.3 COL11A2 Type 11 collagen alpha-2 chain Otospondylomegaepiphyseal dysplasia (OSMED), dominant type (Weissenbacher- Zweymüller syndrome, Stickler syndrome type 3) 186 See also Stickler syndrome type 1 in group 2 4. Sulphation disorders group Achondrogenesis type 1B (ACG1B) AR 600972 5q32-33 DTDST SLC26A2 sulfate transporter Atelosteogenesis type 2 (AO2) AR 256050 5q32-33 DTDST SLC26A2 sulfate transporter Diastrophic dysplasia (DTD) AR 222600 5q32-33 DTDST SLC26A2 sulfate transporter MED, autosomal recessive type (rMED; EDM4) AR 226900 5q32-33 DTDST SLC26A2 sulfate transporter SEMD, PAPSS2 type AR 603005 10q23-q24 PAPSS2 PAPS-Synthetase 2 AR 608637 10q22.1 CHST3 Carbohydrate sulfotransferase 3; chondroitin 6-sulfotransferase Chondrodysplasia with congenital joint dislocations, CHST3 type (recessive Larsen syndrome) Ehlers-Danlos syndrome, CHST14 type (“musculo-skeletal variant”) AR 601776 15q14 CHST14 Carbohydrate sulfotransferase 14; dermatan 4-sulfotransferase See also group 7 and group 26 for other conditions with multiple dislocations. 5. Perlecan group Dyssegmental dysplasia, Silverman-Handmaker type AR 224410 1q36-34 PLC (HSPG2) Perlecan LOCOMOTOR SYSTEM vol. 19, <strong>2012</strong>, No. 3+4 Dyssegmental dysplasia, Rolland-Desbuquois type AR 224400 1q36-34 PLC (HSPG2) Perlecan Schwartz-Jampel syndrome (myotonic chondrodystrophy) AR 255800 1q36-34 PLC (HSPG2) Perlecan 6. Aggrecan group SED, Kimberley type AD 608361 15q26 AGC1 Aggrecan SEMD, Aggrecan type AR 612813 15q26 AGC1 Aggrecan Familial osteochondritis dissecans AD 165800 15q26 AGC1 Aggrecan 7. Filamin group and related disorders Frontometaphyseal dysplasia XLD 305620 Xq28 FLNA Filamin A Osteodysplasty Melnick-Needles XLD 309350 Xq28 FLNA Filamin A Otopalatodigital syndrome type 1 (OPD1) XLD 311300 Xq28 FLNA Filamin A Otopalatodigital syndrome type 2 (OPD2) XLD 304120 Xq28 FLNA Filamin A Terminal osseous dysplasia with pigmentary defects (TODPD) XLD 300244 Xq28 FLNA Filamin A Atelosteogenesis type 1 (AO1) AD 108720 3p14.3 FLNB Filamin B Atelosteogenesis type 3 (AO3) AD 108721 3p14.3 FLNB Filamin B Larsen syndrome (dominant) AD 150250 3p14.3 FLNB Filamin B
group/Name of Disorder Inheritance MIM No. Locus Gene Protein Spondylo-carpal-tarsal dysplasia AR 272460 3p14.3 FLNB Filamin B Spondylo-carpal-tarsal dysplasia AR 272460 Franck - ter Haar syndrome AR 249420 5q35.1 SH3PXD2B TKS4 Serpentine fibula - polycystic kidney syndrome AD? 600330 (see also group 4 for recessive Larsen syndrome and group 26 for conditions with multiple dislocations) 8. TRPV4 group Metatropic dysplasia AD 156530 12q24.1 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 Spondyloepimetaphyseal dysplasia, Maroteaux type (Pseudo-Morquio syndrome type 2) AD 184095 12q24.1 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 Spondylometaphyseal dysplasia, Kozlowski type AD 184252 12q24.1 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 Brachyolmia, autosomal dominant type AD 113500 12q24.1 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 Familial digital arthropathy with brachydactyly AD 606835 12q24.1 TRPV4 Transient receptor potential cation channel, subfamily V, member 4 9. Short-ribs dysplasias (with or without polydactyly) group Chondroectodermal dysplasia (Ellis-van Creveld) AR 225500 4p16 EVC1 EvC gene 1 4p16 EVC2 EvC gene 2 POHYBOVÉ ÚSTROJÍ, ročník 19, <strong>2012</strong>, č. 3+4 187 Short ribs – polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff) AR 263510 11q22.3 DYNC2H1 Dynein, cytoplasmic 2, heavy chain 1 SRPS type 1/3 (Saldino-Noonan/Verma-Naumoff) AR 263510 3q25.33 IFT80 Intraflagellar transport 80 (homolog of) SRPS type 1/3 (Saldino-Noonan/Verma-Naumoff) AR 263510 SRPS type 2 (Majewski) AR 263520 SRPS type 4 (Beemer) AR 269860 Oral-facial-digital syndrome type 4 (Mohr-Majewski) AR 258860 Asphyxiating thoracic dysplasia (ATD; Jeune) AR 208500 3q25.33 IFT80 intraflagellar transport 80 (homolog of) Asphyxiating thoracic dysplasia (ATD; Jeune) AR 208500 11q22.3 DYNC2H1 Dynein, cytoplasmic 2, heavy chain 1 Asphyxiating thoracic dysplasia (ATD; Jeune) AR 208500 Thoracolaryngopelvic dysplasia (Barnes) AD 187760 See also paternal UPD14 and cerebro-costo-mandibular syndrome 10. Multiple epiphyseal dysplasia and pseudoachondroplasia group
Page 1 and 2: Pokroky ve výzkumu, diagnostice a
Page 3 and 4: POHYBOVÉ ÚSTROJÍ ročník 19, 20
Page 5 and 6: Devatenáctý ročník časopisu Po
Page 7 and 8: ScHindlerová n., Foltýnová B., H
Page 9 and 10: SlOVO čTenářůM � a wORd TO Re
Page 11 and 12: OBRázek na TiTulnÍ STRaně čaSOP
Page 13 and 14: RTG snímky z archivu Ambulantního
Page 15 and 16: SOuBORnÉ RefeRáTY � ReViewS nOS
Page 17 and 18: Nosologie by měla být užitečná
Page 19 and 20: Skupina 30 (Syndromy nadměrného v
Page 21 and 22: přiřazeny mezi jiné. Probíhají
Page 23: group/Name of Disorder Inheritance
Page 27 and 28: group/Name of Disorder Inheritance
Page 43 and 44: SOuBORnÉ RefeRáTY � ReViewS POH
Page 45 and 46: např. k metabolickému syndromu a
Page 47 and 48: ku. Ten se během školního roku v
Page 49 and 50: s použitím zvýšené PA, monitor
Page 51 and 52: měřená kaliperem) ukázalo od š
Page 53 and 54: cal fitness and body composition, A
Page 55 and 56: PůVOdnÍ PRáCe � ORiGinal PaPeR
Page 57 and 58: ty čtyři druhy materiálů s růz
Page 59 and 60: Deformace [mm] 8 7 6 5 4 3 2 1 0 0
Page 61 and 62: 9. OLFAT, M. et al. Effect of Terra
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Page 69 and 70: PůVOdnÍ PRáCe � ORiGinal PaPeR
Page 71 and 72: Obr. 1. Zařízení pro měření d
Page 73 and 74: Obr. 2. Četnosti hodnot BMI u 33 p
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cí se podobným problémem, nebylo
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kazuiSTikY � CaSe RePORTS OllieRO
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ging of enchondromas, localized and
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Obr. 1C. RTG snímek ukazuje dvouú
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Obr. 1f. rigidní equinovarosní ko
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Obr. 1CH. RTG snímek P femuru v bo
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Obr. 2B. RTG dobrá osifikace kostn
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Obr. 2f. Resekce diafýzy v distál
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Obr. 2i. Po rekonstrukčním etapov
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ho obratu i kostní denzity. Cílen
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THe TeaM Of THe ORTHOPaediC dePaRTM
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fig. 3a, 3b, 3c Wiktor Dega (3a) He
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fig. 7 Building of Paediatric Hospi
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9c 9a 9b fig. 9a, 9b, 9c Guests in
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surgery - the release of ITB in 199
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fig. 14 Orthopaedics / Team & Frien
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fig. 16 Guests in Lublin / Lublin o
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19a 19b 19c fig. 19 Professors from
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1925 - dead 1997), Prof. T. Karski
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Fig. 28 Guests in Lublin / Lublin o
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nosti 70 kg je poté velikost napě
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✃ PŘIHLÁŠKA řádného člena
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and maintained permanently. Our rol
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autora a jasné označení, kde bud
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RefeRenCeS References must be prese
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OznáMenÍ ÚMRTÍ OBiTuaRY zPRáVY
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Jarek Masopust prožil velmi bohat
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MySlivec r., PetráŠová Š., Mař
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COnTenTS Of VOluMe 2011 A WORD TO R
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Assoc. Professor Vaclav Smrcka, MD,
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MaříK i., ŠorMová l., zeMKová
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MariK i., SorMova l., zeMKova d., K
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Pokroky ve výzkumu, diagnostice a
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SundaY 16, SePTeMBeR 2012 Arrival o
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wedneSdaY 19, SePTeMBeR 2012 SYMPOS
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fRidaY 21, SePTeMBeR 2012 SYMPOSiuM
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note: Lectures and text slides will
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ing practical patients problems are
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Table 1. A cohort of congenital sys
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Osteogenesis imperfecta, progressiv
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This cohort of 619 probands include
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plasia), Stickler syndrome and some
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is caused by mutations in PEX7 whic
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Pycnodysostosis With the chromosoma
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aBSTRakT PRinCiPleS Of THe HiSTOPaT
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Practical information for ”nordic
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stiffness, no large curves, no big
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ling myoelectric prostheses and - a
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tus, b) varus deformity and c) the
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PROSPeCTiVe ORiGinal PaPeR POSSiBil
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At present, we provided temporary h
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20. TANNER J M, HEALY M J, et al. A
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correct the alignment, and intra me
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Conclusions z The treatment of thor
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one stage “Z” lengthening of di
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Fig. 3A Fig. 3B Fig. 4A Fig. 4B ele
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The main advantage of Si-CAP (Actif
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advised to perform numerous flexion
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Ortopedická protetika Praha s.r.o.
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3+4+Supplementum/2012 - Společnost pro pojivové tkáně

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