Multidisciplinaire benadering van
klinische besluitvorming
P. 1
,Inhoudsopgave
1. Inleiding ............................................................................................................................................... 9
1.1 Casussen ........................................................................................................................................ 9
1.2 Situerering ................................................................................................................................... 10
1.3 Benaderingen............................................................................................................................... 11
1.3.1. Medische besliskunde .......................................................................................................... 11
1.3.2. Clinical reasoning ................................................................................................................. 11
1.3.3. Scripts .................................................................................................................................. 13
1.3.4. Pluis vs. Niet pluis/intuïtie/gutfeeling/patroonherkenning (short cuts):.............................. 14
2. Pathologie: enkele basisbegrippen, wat doet de patholoog, wat kan je van de patholoog
verwachten? .......................................................................................................................................... 16
2.1 Definitie pathologie “ziekteleer”.................................................................................................. 16
3. klinische pathologie/pathologische anatomie ................................................................................... 17
3.1. Pathologie: doel .......................................................................................................................... 17
3.1.1. Afdeling pathologische anatomie UZ Gent .......................................................................... 17
3.1.2. Pathologie: doel van het pathologisch onderzoek ............................................................... 17
3.1.3. Dienst pathologische anatomie: .......................................................................................... 17
3.1.4. Werk patholoog UZGent ...................................................................................................... 17
3.2. Biopsie ........................................................................................................................................ 18
3.2.1. Type biopsies (examenvraag) ............................................................................................... 18
3.2.2. Proces van biopsie naar (moleculaire) diagnostiek .............................................................. 21
3.3. Pathologische anatomie.............................................................................................................. 22
3.3.1. Volledige en correcte klinische informatie = MUST ................................................................. 22
3.3.2. Volledige klinische informatie = verantwoordelijkheid van de clinicus .................................... 22
3.3.1. Hoe aanleveren materiaal .................................................................................................... 23
3.3.2. Biopsie ................................................................................................................................. 26
3.3.3. Verwerking biopsie .............................................................................................................. 26
3.4. Cytologie ..................................................................................................................................... 27
3.4.1. Bijkomende onderzoeken .................................................................................................... 28
3.4.2. Histochemische kleuringen .................................................................................................. 29
3.4.3. Immuunhistohemische kleuringen ...................................................................................... 30
3.4.5. Immunohistochemie ............................................................................................................ 31
3.4.6. Immunofluorescentie (examen)........................................................................................... 32
3.5. FISH(Fluorescentie in situ hybridisatie) ....................................................................................... 33
3.6. Mutatie analyse .......................................................................................................................... 34
3.6.1 een aantal belangrijke contactmomenten tussen het labo pathologie en zijn omgevig ....... 34
P. 2
,4. Algemene theoretische inleiding over oncologie ............................................................................... 36
4.1. Nomenclatuur en basisbegrippen ............................................................................................... 36
4.2. Nomenclatuur ............................................................................................................................. 36
4.3. Classificatie en nomenclatuur ..................................................................................................... 36
4.3.1. Epitheliale tumoren (weefsel) .............................................................................................. 37
4.3.2. Mesenchymale tumoren (membraan) ................................................................................. 37
4.3.3. Andere tumoren .................................................................................................................. 38
4.4. Dysplasie ..................................................................................................................................... 38
4.4.1. Screening en preventie van baarmoederhalskanker ............................................................ 38
5. Basisgenetica ..................................................................................................................................... 39
5.1. Historisch perspectief: mijlpalen van de genetica ...................................................................... 39
5.2. het menselijk lichaam is opgebouwd uit cellen, de celkern bevat DNA ...................................... 40
5.2.1. De celkern bevat DNA .......................................................................................................... 40
5.2.2. DNA heeft een bijzonder structuur ...................................................................................... 40
5.2.3. DNA: complementariteit en replicatie ................................................................................. 41
5.2.4. De genetische code .............................................................................................................. 41
5.2.5. Een gen is de kleinste eenheid van erfelijkheid ................................................................... 42
5.2.6. Genen coderen eiwitten ...................................................................................................... 43
5.2.7. De genetische code .............................................................................................................. 43
5.2.8. Alternatieve splicing: verschillende eiwitten uit eenzelfde gen ........................................... 43
5.2.9. Genetische informatie ......................................................................................................... 44
5.2.10. chromosomen en genen komen voor in paren .................................................................. 45
5.2.11. Erfelijk of genetisch: verschillende betekenis .................................................................... 46
5.2.12. De genetische basis van ziekte ........................................................................................... 47
5.2.13. Chromosomale afwijkingen ............................................................................................... 47
5.2.14. NIPT.................................................................................................................................... 48
5.2.15. Submicrospische chromosomale afwijking: moleculaire karyotypering ............................ 49
5.2.16 Chromosomale afwijking .................................................................................................... 50
5.3. Mendeliaanse overerving ........................................................................................................... 50
5.3.1. Autosomaal dominante overerving...................................................................................... 51
5.3.2. Autosomaal recessieve overerving ...................................................................................... 52
5.3.3. X-gebonden overerving........................................................................................................ 53
5.4. Mendeliaanse overerving: bijzondere kenmerken...................................................................... 54
5.4.1. Gereduceerde penetratie of non-penetratie ....................................................................... 54
5.4.2. Leeftijdsafhankelijke penetratie ........................................................................................... 54
5.4.3. Variabele expressie .............................................................................................................. 55
P. 3
, 5.5. diagnostisch en predictief onderzoek ......................................................................................... 56
5.5.1. Predictief onderzoek ............................................................................................................ 56
5.5.2. Pre-implantatie genetische testing ...................................................................................... 57
5.5.3. Expanded carrier screening.................................................................................................. 57
5.6. mendeliaanse en multifactoriële aandoeningen......................................................................... 57
5.6.1. multifactoriële erfelijkheid – susceptibiliteitstesting ........................................................... 58
5.7. gepersonaliseerde geneeskunde ................................................................................................ 59
5.8. Genetische dienstverlening in België .......................................................................................... 59
5.8.1. genetische dienstverlening in het CMGG – UZ Gent............................................................ 60
5.8.2. het belang van psychologische begeleiding en genetische counseling ................................ 60
5.8.3. De vele dimensies van erfelijkheidsonderzoek – een illustratie........................................... 61
5.8.4. de ziekte van Huntington ..................................................................................................... 62
5.9. Bescherming van genetische gegevens in België ........................................................................ 62
5.10 De exclusietest voor de ziekte van Hungington ......................................................................... 63
5.11. Erfelijk borst- en ovariumcarcinoom......................................................................................... 63
5.12. Oefeningen ............................................................................................................................... 64
6. Klinische biologie: microbiologie........................................................................................................ 69
6.1. Situering ...................................................................................................................................... 69
6.1.1. Medische microbiologie: doelstellingen van deze les .......................................................... 69
6.2. Onderdelen van het microbiologisch proces .............................................................................. 70
6.3.Uitwerking a.d.h.v een casus ....................................................................................................... 70
6.3.1. Casus 1 ................................................................................................................................. 70
6.3.2. indicatiestelling voor urinekweken ...................................................................................... 71
6.3.3. Casus 2 ................................................................................................................................. 72
6.3.4. Aankomst in het lab: administratie (geen examenvragen) .................................................. 75
6.3.5. Afdeling bacteriologie .......................................................................................................... 75
6.3.6. Wanneer begint de analytische fase? .................................................................................. 75
6.4. Kweek identificatie met MALDI-TOF MS ..................................................................................... 79
6.5. Gevoeligheid aan antibiotica: de minimale inhiberende concentratie (MIC).............................. 80
6.6. Gevoeligheidsbepaling en resistentie ......................................................................................... 80
6.6.1. Diffusie-antibiogram ............................................................................................................ 80
6.6.2. uitwerking a.d.h.v. een casus ............................................................................................... 81
6.7. Wat met antibiogrammen .......................................................................................................... 82
6.7.1. Uitwerking a.d.h.v. een casus............................................................................................... 82
7. types stalen ........................................................................................................................................ 83
7.1. Type 1 stalen ............................................................................................................................... 83
P. 4
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