Kompendium 2020 Forschung & Klinik

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TOP-Studien 56 Late-onset gnomAD all gnomAD European HZN GENESIS neuropathies exomes exomes exomes exomes Number of 230 123,136 55,860 11,225 3,793 samples (alleles) (460) (246,272) (111,720) (22,500) (7,586) Loss-of-function 9 (0.01957) 172 (0.0007024) 91 (0.0008187) 15 (0.0000667) 3 (0.0004653) variants * P = 9.35E-11 P = 4.33E-10 P = 4.82E-10 P = 1.14E-9 Rare missense 14 (0.03043) 1,562 (0.006361) 592 (0.005319) 206 (0.009156) 50 (0.006591) variants # P = 2.3E-6 P = 3.22E-7 P = 0.00015 P = 0.00001 Rare, serious 13 (0.02826) 926 (0.003771) 414 (0.003720) 131 (0.005822) NA missense variants † P = 4.78E-9 P = 3.70E-8 P = 6.89E-6 p.Pro15 6Leufs * 14 2 (0.004348) 62 (0.0002525) 33 (0.0002965) 6 (0.0002667) 2 (0.0002036) P = 0.00652 P = 0.0092 P = 0.01 P = 0.018 p.Tyr347Cys 8 (0.01739) 128 (0.0005202) 117 (0.001049) 41 (0.001822) 10 (0.001318) P = 2.64E-10 P = 5.88E-8 P = 5.36E-6 P = 2.83E-60 p.Met8Val 26 (0.05652) 4,041 (0.01641) 2,719 (0.02435) 544 (0.02418) NA P = 8.76E-8 P = 0.0001 P = 0.00025 p.Val345lle 4 (0.008696) 463 (0.001882) 354 (0.003174) 67 (0.002978) NA P=0.012 P = 0.061 P = 0.054 p.Gly225Ala 0 (0) 393 (0.001635) 230 (0.002126) 78 (0.003467) NA P = 0.99 P = 0.99 P = 0.99 Table 1: Frequencies of MME variants in cases and control. Figure 1: Manifestations of MME variants ; adapted from 4 (A) Disease severity of cases with autosomal recessive and assumed autosomal dominant inherited MME variants are shown as proportional distribution (Scores: mild = 1, very severe = 4). (B) Boxplots comparing neprilysin levels in EDTA plasma obtained from healthy controls (n = 22), late-onset neuropathy patients without MME variants (n = 34), serious MME variants (n = 15), and the p.Met8Val low-frequency polymorphism (n = 9).
TOP-Studien 57 rare heterozygous loss-of-function variants, and nine patients carried rare heterozygous missense variants. „For individuals older than 65 years we observed that MME variants may act as completely penetrant recessive alleles but also lead to dominantly inherited susceptibility to axonal neuropathies.“ Katharina Pichler In Table 1 frequencies of MME variants of 230 individuals (cases and controls) with late-onset neuropathies were compared to all exomes of gnomAD, European descent exomes of gnomAD, the exomes of Helmholtz Zentrum München or exomes of GENESIS. The comparison to control datasets revealed that, for instance, heterozygous MME loss-of-function variants showed a statistically significant enrichment in our screening cohort. Clinical manifestations of MME variants Although the disease manifested with advanced age, it showed a progressive and severe behaviour. Patients complained of neuropathic pain, with muscle wasting and weakness with sensory deficits in the lower legs. CMAP amplitudes were usually below the normal range (
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Kompendium 2020 Forschung & Klinik
Page 3 and 4:
Inhalt/Impressum 3 Die Klinik 4 Edi
Page 6 and 7: Zahlen und Fakten 6 Klinische Leist
Page 9 and 10: Zahlen und Fakten 9 Hohe Ambulanzfr
Page 11 and 12: Klinik 11 Neben der Polytrauma-Vers
Page 13 and 14: Die Meniskusversorgung Alle Möglic
Page 15 and 16: Das ÄrztInnenteam 15 Universitäts
Page 17 and 18: Spherox ist das einzig EMA-zugelass
Page 19 and 20: Das ÄrztInnenteam 19 Medizinische
Page 21 and 22: Ambulanzen 21 Spezialambulanzen Kli
Page 23 and 24: TOP-Studien 23 defects (≤ Interna
Page 25 and 26: WE LENGTHEN, TRANSPORT AND GROW BON
Page 27 and 28: TOP-Studien 27 5 5 Patients (-) 10
Page 29 and 30: FRESH AIR FRESH PERSPECTIVE Remove
Page 31 and 32: TOP-Studien 31 Aseptic loosening is
Page 33 and 34: Integriertes Patientenversorgungsko
Page 35 and 36: TOP-Studien 35 Figure 1: Bone miner
Page 37 and 38: TOP-Studien 37 A Prediction Model f
Page 39 and 40: TOP-Studien 39 Figure 2: Graphic vi
Page 41 and 42: TOP-Studien 41 Figure 1: Individual
Page 43 and 44: 3D Biochips for Research on Inflamm
Page 45 and 46: TOP-Studien 45 Chondro-Synovial Cro
Page 47 and 48: TOP-Studien 47 Figure 1. (A) Intrao
Page 49 and 50: TOP-Studien 49 Total Hip Arthroplas
Page 51 and 52: TOP-Studien 51 nerve lesions (1 N.
Page 53 and 54: TOP-Studien 53 1 Volume fill of car
Page 55: TOP-Studien The Genetic Landscape o
Page 59 and 60: TOP-Studien 59 Figure 1: Example of
Page 61 and 62: COPAL ® - ERFOLGREICH GEGEN INFEKT
Page 63 and 64: TOP-Studien 63 Figure 1: Biomechani
Page 65 and 66: TOP-Studien 65 Development of a New
Page 67 and 68: TOP-Studien 67 Table 1: Relative ro
Page 69 and 70: Publikationen 69 Bumberger A, Kolle
Page 71 and 72: Publikationen 71 sou NA, McNally MA
Page 73 and 74: Publikationen 73 Propensity-Matched
Page 75 and 76: Publikationen 75 novel hypothetical
Page 77 and 78: Publikationen 77 ritisches Denken.
Page 79 and 80: Publikationen 79 Zuteilungsdatum: 2
Page 81 and 82: Publikationen 81 Payr S: Reviewer J
Page 83 and 84: Publikationen 83 fracture, Wrist Ar
Page 85 and 86: Kundenkompetenzzentrum mit Shop & W
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