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

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group/Name of Disorder Inheritance MIM No. Locus Gene Protein Marfan syndrome AD 154700 15q21.1 FBN1 Fibrillin 1 Congenital contractural arachnodactyly AD 121050 5q23.3 FBN2 Fibrillin 2 198 Loeys-Dietz syndrome types 1A and 2A AD 609192, 610168, 9q22 TGFBR1, TGFbeta receptor subunit 1 Loeys-Dietz syndrome types 1B and 2B AD 608967, 6103803p22 TGFBR2 TGFbeta receptor subunit 2 Overgrowth syndrome with 2q37 translocations SP -- 2q37 NPPC Natriuretic peptide precursor C SP? Overgrowth syndrome with skeletal dysplasia (Nishimura-Schmidt, endochondral gigantism) See also: Shprintzen-Goldberg syndrome in Craniosynostosis group 31. Genetic inflammatory/rheumatoid-like osteoarthropathies Progressive pseudorheumatoid dysplasia (PPRD; SED with progressive arthropathy) AR 208230 6q22-23 WISP3 WNT1-inducible signaling pathway protein 3 Chronic infantile neurologic cutaneous articular syndrome (CINCA)/neonatal onset AD 607115 1q44 CIAS1 Cryopyrin multisystem inflammatory disease (NOMID) Sterile multifocal osteomyelitis, periostitis, and pustulosis (CINCA/NOMID-like) AR 147679 2q14.2 IL1RN Interleukin 1 receptor antagonist Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia AR 609628 18p11.3 LPIN2 Lipin 2 (CRMO with CDA; Majeed syndrome) Hyperostosis/hyperphosphatemia syndrome AR 610233 2q24-q31; GALNT3 UDP-N-acetyl-alpha-Dgalactosamine:polypeptideNacetylgalactosaminyltransfe rase 3 LOCOMOTOR SYSTEM vol. 19, 2012, No. 3+4 Infantile systemic hyalinosis/Juvenile hyaline fibromatosis (ISH/JHF) AR 236490 4q21 ANTXR2 Anthrax toxin receptor 2 32. Cleidocranial dysplasia and isolated cranial ossification defects group Cleidocranial dysplasia AD 119600 6p21 RUNX2 Runt related transcription factor 2 AR 603116 22q12-q13 CDAGS syndrome (craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, genital anomalies, skin eruption) Yunis-Varon dysplasia AR 216340 Parietal foramina (isolated) AD 168500 11q11.2 ALX4 Aristaless-like 4 Parietal foramina (isolated) AD 168500 5q34-35 MSX2 Muscle segment homeobox 2 See also: pycnodysostosis, wrinkly skin syndrome, and several others 33. Craniosynostosis syndromes Pfeiffer syndrome (FGFR1-related) AD 101600 8p12 FGFR1 Fibroblast growth factor receptor 1 Pfeiffer syndrome (FGFR2-related) AD 101600 10q26.12 FGFR2 Fibroblast growth factor receptor 2 Apert syndrome AD 101200 10q26.12 FGFR2 Fibroblast growth factor receptor 2 Craniosynostosis with cutis gyrata (Beare-Stevenson) AD 123790 10q26.12 FGFR2 Fibroblast growth factor receptor 2
group/Name of Disorder Inheritance MIM No. Locus Gene Protein Crouzon syndrome AD 123500 10q26.12 FGFR2 Fibroblast growth factor receptor 2 Crouzon-like craniosynostosis with acanthosis nigricans (Crouzonodermoskeletal AD 612247 4p16.3 FGFR3 Fibroblast growth factor receptor 3 syndrome) Craniosynostosis, Muenke type AD 602849 4p16.3 FGFR3 Fibroblast growth factor receptor 3 Antley-Bixler syndrome AR 201750 7q11.23 POR Cytochrome P450 oxidoreductase Craniosynostosis Boston type AD 604757 5q35.2 MSX2 MSX2 Saethre-Chotzen syndrome AD 101400 7p21.1 TWIST1 TWIST Shprintzen-Goldberg syndrome AD 182212 Baller-Gerold syndrome AR 218600 8q24.3 RECQL4 RECQ Protein-like 4 Carpenter syndrome AR 201000 RAB23 See also Cole-Carpenter syndrome in group 24, CDAGS syndrome in group 29, and Craniofrontonasal syndrome in group 34 34. Dysostoses with predominant craniofacial involvement Mandibulo-facial dysostosis (Treacher Collins, Franceschetti-Klein) AD 154500 5q32 TCOF1 Treacher Collins-Franceschetti syndrome 1 Mandibulo-facial dysostosis (Treacher-Collins, Franceschetti-Klein) AD 154500 13q12.2 POLR1D Polymerase (RNA) I polypeptide D Mandibulo-facial dysostosis (Treacher-Collins, Franceschetti-Klein) AR 154500 6p21.1 POLR1C Polymerase (RNA) I polypeptide C Oral-facial-digital syndrome type I (OFD1) XLR 311200 Xp22.3 CXORF5 chr. X open reading frame 5 Weyer acrofacial (acrodental) dysostosis AD 193530 4p16 EVC1 Ellis-van Creveld 1 protein POHYBOVÉ ÚSTROJÍ, ročník 19, 2012, č. 3+4 199 Endocrine-cerebro-osteodysplasia (ECO) AR 612651 6p12.3 ICK Intestinal cell kinase Craniofrontonasal syndrome XLD 304110 Xq13.1 EFNB1 Ephrin B1 Frontonasal dysplasia, type 1 AR 136760 1p13.3 ALX3 Aristaless-like-3 Frontonasal dysplasia, type 2 AR 613451 11p11.2 ALX4 Aristaless-like-4 Frontonasal dysplasia, type 3 AR 613456 12q21.3 ALX1 Aristaless-like 1 Hemifacial microsomia SP/AD 164210 Miller syndrome (postaxial acrofacial dysostosis) AR 263750 16q22 DHODH Dihydroorotate dehydrogenase Acrofacial dysostosis, Nager type AD/AR 154400 Acrofacial dysostosis, Rodriguez type AR 201170 See also Oral-facial-digital syndrome type IV in the Short Rib Dysplasias group 35. Dysostoses with predominant vertebral with and without costal involvement Currarino triad AD 176450 7q36 HLXB9 Homeobox gene HB9
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 35: 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
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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
Page 75 and 76: cí se podobným problémem, nebylo
Page 77 and 78: kazuiSTikY � CaSe RePORTS OllieRO
Page 79 and 80: ging of enchondromas, localized and
Page 81 and 82: Obr. 1C. RTG snímek ukazuje dvouú
Page 83 and 84: Obr. 1f. rigidní equinovarosní ko
Page 85 and 86: 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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