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

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group/Name of Disorder Inheritance MIM No. Locus Gene Protein See also: SED with congenital dislocations, CHST3 type (group 4); Atelosteogenesis type 3 and Larsen syndrome (group 6); SEMDs with joint laxity (group 11) 192 21. Chondrodysplasia punctata (CDP) group CDP, X-linked dominant, Conradi-Hünermann type (CDPX2) XLD 302960 Xp11 EBP Emopamil-binding protein CDP, X-linked recessive, brachytelephalangic type (CDPX1) XLR 302950 Xp22.3 ARSE Arylsulfatase E CHILD (congenital hemidysplasia, ichthyosis, limb defects) XLD 308050 Xp11 NSDHL NAD(P)H steroid dehydrogenase-like protein CHILD (congenital hemidysplasia, ichthyosis, limb defects) XLD 308050 Xq28 EBP Emopamil-binding protein Greenberg dysplasia AR 215140 1q42.1 LBR Lamin B receptor, 3-beta-hydroxysterol delta (14)-reductase Rhizomelic CDP type 1 AR 215100 6q22-24 PEX7 Peroxisomal PTS2 receptor Rhizomelic CDP type 2 AR 222765 1q42 DHPAT Dihydroxyacetonephosphate acyltransferase Rhizomelic CDP type 3 AR 600121 2q31 AGPS Alkylglycerone-phosphate synthase (AGPS) CDP tibial-metacarpal type AD/AR 118651 Astley-Kendall dysplasia AR? Note that stippling can occur in several syndromes such as Zellweger, Smith-Lemli- Opitz and others. See also desmosterolosis as well as SEMD short limb - abnormal calcification type in group 11. 22. Neonatal osteosclerotic dysplasias Blomstrand dysplasia AR 215045 3p22-21.1 PTHR1 PTH/PTHrP receptor 1 LOCOMOTOR SYSTEM vol. 19, 2012, No. 3+4 Desmosterolosis AR 602398 1p33-31.1 DHCR24 3-beta-hydroxysterol delta-24-reductase Caffey disease (including infantile and attenuated forms) AD 114000 17q21-22 COL1A1 Collagen 1, alpha-1 chain Caffey disease (severe variants with prenatal onset) AR 114000 Raine dysplasia (lethal and non-lethal forms) AR 259775 7p22 FAM20C See also Astley-Kendall dysplasia and CDPs in group 21 23. Increased bone density group (without modification of bone shape) Osteopetrosis, severe neonatal or infantile forms (OPTB1) AR 259700 11q13 TCIRG1 Subunit of ATPase proton pump Osteopetrosis, severe neonatal or infantile forms (OPTB4) AR 611490 16p13 CLCN7 Chloride channel 7 Osteopetrosis, infantile form, with nervous system involvement (OPTB5) AR 259720 6q21 OSTM1 Grey lethal/Osteopetrosis associated transmembrane protein Osteopetrosis, intermediate form, osteoclast-poor (OPTB2) AR 259710 13q14.11 RANKL (TNFSF11) Receptor activator of NF-kappa-B ligand (Tumor necrosis factor ligand superfamily, member 11)
group/Name of Disorder Inheritance MIM No. Locus Gene Protein Osteopetrosis, infantile form, osteoclast-poor with immunoglobulin deficiency (OPTB7) AR 612302 18q21.33 RANK (TNFRSF11 Receptor A) activator of NF-kappa-B Osteopetrosis, intermediate form (OPTB6) AR 611497 17q21.3 PLEKHM1 Pleckstrin homology domain-containing protein, family M, member 1 Osteopetrosis, intermediate form (OPTA2) AR 259710 16p13 CLCN7 Chloride channel pump Osteopetrosis with renal tubular acidosis (OPTB3) AR 259730 8q22 CA2 Carbonic anhydrase 2 Osteopetrosis, late-onset form type 1 (OPTA1) AD 607634 11q13.4 LRP5 Low density lipoprotein receptor-related protein 5 Osteopetrosis, late-onset form type 2 (OPTA2) AD 166600 16p13 CLCN7 Chloride channel 7 Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID) XL 300301 Xq28 IKBKG (NEMO) Inhibitor of kappa light polypeptide gene enhancer, kinase of Osteopetrosis, moderate form with defective leucocyte adhesion (LAD3) AR 612840 11q12 FERMT3 (KIND3)Fermitin 3 (Kindlin 3) Osteopetrosis, moderate form with defective leucocyte adhesion AR 612840 11q13 RASGRP2 (CalDAG- Ras GEF1) guanyl nucleotide-releasing protein 2 Pyknodysostosis AR 265800 1q21 CTSK Cathepsin K Osteopoikilosis AD 155950 12q14 LEMD3 LEM domain-containing 3 Melorheostosis with osteopoikilosis AD 155950 12q14 LEMD3 LEM domain-containing 3 Osteopathia striata with cranial sclerosis (OSCS) XLD 300373 Xq11.1 WTX FAM123B Melorheostosis SP Dysosteosclerosis AR 224300 Osteomesopyknosis AD 166450 POHYBOVÉ ÚSTROJÍ, ročník 19, 2012, č. 3+4 193 Osteopetrosis with infantile neuroaxonal dysplasia AR? 600329 24. Increased bone density group with metaphyseal and/or diaphyseal involvement Craniometaphyseal dysplasia, autosomal dominant type AD 123000 5p15.2-14.2 ANKH Homolog of mouse ANK (ankylosis) gene Diaphyseal dysplasia Camurati-Engelmann AD 131300 19q13 TGFbeta1 Transforming growth factor beta 1 Hematodiaphyseal dysplasia Ghosal AR 231095 7q34 TBXAS1 Thromboxane A synthase 1 Hypertrophic osteoarthropathy AR 259100 4q34-35 HPGD 15-alpha-hydroxyprostaglandin dehydrogenase Pachydermoperiostosis (hypertrophic osteoarthropathy, primary, autosomal dominant) AD 167100 Oculodentoosseous dysplasia (ODOD) mild type AD 164200 6q22-23 GJA1 Gap junction protein alpha-1 Oculodentoosseous dysplasia (ODOD) severe type AR 257850 Osteoectasia with hyperphosphatasia (juvenile Paget disease) AR 239000 8q24 OPG Osteoprotegerin Sclerosteosis AR 269500 17q12-21 SOST Sclerostin Endosteal hyperostosis, van Buchem type AR 239100 17q12-21 SOST Sclerostin
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 and 24: group/Name of Disorder Inheritance
Page 29: 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
Page 63 and 64: change their states and structure i
Page 65 and 66: Each patient has the record: name n
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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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Page 77 and 78: kazuiSTikY � CaSe RePORTS OllieRO
Page 79 and 80: 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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