C a p i t o l o I V
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A b b r e v i a z i o n i i n o r d i n e a l f a b e t i c o
• AAA: ATPases Associated with cellular Activities
• ANOVA: Analysis of variance
• ATS: American Thoracic Society
• CC: Coppia centrale
• DCP: Discinesia Ciliare Primaria
• DNAH11: Dynein Axonemal Heavy Chain 11
• DS: Deviazione Standard
• ERS: European Respiratory Society
• FC: Fibrosi Cistica
• FEF25-75%: Forced Expiratory Flow between 25 and 75% of vital capacity
• FEV1: Forced Expiratory Volume in 1 second
• FRCpleth: Functional Residual Capacity made by plethysmography
• FVC: Forced Vital Capacity
• HRCT: High Resolution Computed Tomography
• IDA: Inner Dynein Arm
• IQR: Scarto interquartile
• LID e LIS:Lobo Inferiore Destro e Lobo Inferiore Sinistro
• M: Media
• Me: Mediana
• N-DRC: Nexin-Dynein Regulatory Complex
• nNO: nasal Nitric Oxide
• NGS: Next Generation Sequencing
• ODA: Outer Dynein Arm
• PCD: Primary Ciliary Dyskinesia
• PEF: Peak of Expiratory Flow
• PEP: Positive Expiratory Pressure
• PFR: Prove di Funzionalità Respiratoria
• ppb: parti per bilione
• RV: Residual Volume
• SVI: Situs Viscerum Inversus
• SS: Situs Solitus
• TC: Tomografia Computerizzata
• TEM: Transmission Electron Microscope
• TLC: Total Lung Capacity
I n d i c e d e l l e f i g u r e e d e l l e t a b e l l e
FIGURE:
Fig. 1 - Ultrastruttura dell’assonema ciliare... 7
Fig. 2 - Struttura della dineina ... 9
Fig. 3 - Il gene DNAH11: localizzazione cromosomica e distribuzione degli esoni ... 42
Fig. 4 - Rappresentazione schematica della proteina DNAH11 e del suo dominio globulare .... 43
Fig. 5 - Età alla diagnosi nella popolazione studiata ... 54
Fig. 6 - Epoca della diagnosi del Situs Viscerum Inversus ... 55
Fig. 7 - Incidenza delle cardiopatie congenite ... 56
Fig. 8 - Esito dello studio funzionale ed ultrastrutturale delle ciglia respiratorie ... 57
Fig. 9 - Localizzazione delle bronchiectasie nei 46 soggetti sottoposti a TC del torace ... 60
Fig.10 - Agenesia ed ipoplasia dei seni paranasali nei 47 soggetti sottoposti a TC dei seni paranasali ... 61
Fig.11 - Correlazione tra score dell’interessamento sinusale ed età dei soggetti ... 61
Fig.12 - Classi di severità dell’impegno bronchiectasico nei soggetti mutati in DNAH11 e in quelli con ultrastruttura ciliare patologica ... 66
Fig.13 - Score dell’impegno sinusale ... 66
Fig.14 - Valori di nNO nei soggetti dei tre gruppi analizzati ... 68
Fig.15 - Classi di severità alla TC del torace nei tre gruppi analizzati ... 70
TABELLE: Tab. 1 - Geni patogenetici nella DCP ... 37
Tab. 2 - Caratteristiche cliniche della popolazione studiata ... 59
Tab. 3 - Mutazioni nel gene DNAH11 riscontrate nei soggetti con ultrastruttura ciliare normale ... 63
Tab. 4 - Confronto tra le caratteristiche cliniche dei soggetti con mutazioni in DNAH11 e quelle dei soggetti con ultrastruttura ciliare patologica ... 65
Tab. 5 - Confronto tra le caratteristiche cliniche dei soggetti con mutazioni in DNAH11 e quelle dei soggetti con deficit di ODA/IDA e di CC ... 68
Tab. 6 - Parametri della funzionalità respiratoria nei tre gruppi ... 69
