UNIT 4 GENETIC CONDITIONS OF ADULTS AND ADOLOSCENTS.pdf

GENETICS MADE EASY AND APPLICABLE FOR 2ND YEAR BSC NURSING AND IV TH SEM BSC NURSING STUDENTS

1. UNIT4 : GENETICCONDITIONSOF
ADOLESCENTS ANDADULTS
1)Cancer genetics –Familial Cancer
2)Inborn errors of metabolism
3)Blood group alleles and
haematological disorder
4)Genetic haemochro-matosis
5)Huntington’s disease
6)Mental illness
BY,
PRAKRUTHI

2. Cancer-relatedgeneticchangescanoccurbecause:
•RandommistakesinourDNAhappenasourcellsmultiply
•OurDNAisalteredbycarcinogensinourenvironment,suchas
chemicalsintobaccosmoke,UVraysfromthesun,andthehuman
papillomavirus(HPV)
•Theywereinheritedfromoneofourparents
Afamilycancersyndrome,alsocalledahereditarycancer
syndrome,isararedisorderinwhichfamilymembershavea
higher-than-averageriskofdevelopingacertaintypeortypesof
cancer.Familycancersyndromesarecausedbyinheritedgenetic
variantsincertaincancer-relatedgenes.
Geneticchangescanleadtocanceriftheyalterthewayyourcells
growandspread.Mostcancer-causingDNAchangesoccur
ingenes,whicharesectionsofDNAthatcarrytheinstructionsto
makeproteinsorspecializedRNAsuchasmicrorna.
Forexample,somednachangesraisethelevelsofproteinsthattell
cellstokeepgrowing.OtherDNAchangeslowerthelevelsof
proteinsthattellcellswhentostopgrowing.AndsomeDNA
changesstopproteinsthattellcellstoself-destructwhentheyare
damaged.
FAMILIAL CANCER

5. (Hypoxic-ischemic encephalopathy)

6. TREATMENT OF INBORN ERRORS OF METABOLISM

7. TheABOlocushasthreemainalleleicforms:A,B,
andO.TheAalleleencodesaglycosyltransferasethat
producestheAantigen(N-acetylgalactosamineisits
immunodominantsugar),andtheBalleleencodesa
glycosyltransferasethatcreatestheBantigen(D-
galactoseisitsimmunodominantsugar).
Blood group alleles
Von Willebrand
disease (VWD) isa
blood disorder in
which the blood
does not clot
properly.

8. Disseminatedintravascularcoagulation(DIC)isaseriousdisorderinwhichthe
proteinsthatcontrolbloodclottingbecomeoveractive.
1)Chestpainandshortnessofbreathifbloodclotsforminthebloodvesselsinyour
lungsandheart.
2)Pain,redness,warmth,andswellinginthelowerlegifbloodclotsforminthedeep
veinsofyourleg.
3)Headaches,speechchanges,paralysis(aninabilitytomove),dizziness,andtrouble
speakingandunderstandingifbloodclotsforminthebloodvesselsinyourbrain.
Thesesignsandsymptomsmayindicateastroke.
Heartattackandlungandkidneyproblemsifbloodclotslodgeinyourheart,lungs,or
kidneys.Theseorgansmayevenbegintofail.
VASCULAR DISORDERS

9. Agroupofhereditaryconnectivetissuedisordersthatmanifestsclinicallywith
skinhyperelasticity,hypermobilityofjoints,atrophicscarring,andfragilityof
bloodvessels.
EHLERS DANLOS SYNDROME (EDS )
atrophic scarring
fragility of blood vessels.

10. TREATMENT OF BLEEDING DISORDERS

11. Haemochromatosis

13. HAEMOCROMATOSIS TRTEATMENT
Themostcommonlyusedtreatmentforhaemochromatosisisaproceduretoremove
someofyourblood,knownasavenesectionorphlebotomy.Theprocedureis
similartogivingblood.Youliebackinachairandaneedleisusedtodraina
smallamountofblood,usuallyabout500ml,fromaveininyourarm.
Thereare2mainstagestotreatment:
induction–bloodisremovedonafrequentbasis(usuallyweekly)untilyouriron
levelsarenormal;thiscansometimestakeuptoayearormore
maintenance–bloodisremovedlessoften(usually2to4timesayear)tokeep
yourironlevelsundercontrol;thisisusuallyneededfortherestofyourlife
You'llusuallybeadvisedto:
haveagenerallyhealthy,balanceddiet
avoidbreakfastcerealsthathavebeen"fortified"withextrairon
avoidtakingironandvitaminCsupplements–thesemaybeharmfulforpeople
withhighironlevels
becarefulnottoeatrawoystersandclams–thesemaycontainatypeofbacteria
thatcancauseseriousinfectionsinpeoplewithhighironlevels
avoiddrinkingexcessiveamountsofalcohol–thiscanincreasethelevelofiron
inyourbodyandputextrastrainonyourliver

14. Huntington'sdiseaseisarare,inheriteddiseasethatcausestheprogressivebreakdown(degeneration)ofnerve
cellsinthebrain.Huntington'sdiseasehasawideimpactonaperson'sfunctionalabilitiesandusuallyresultsin
movement,thinking(cognitive)andpsychiatricdisorders.
Huntington's disease

15. SIGNS&SYMPTOMS
•Socialwithdrawal
•Insomnia
•Fatigueandlossofenergy
•Frequentthoughtsofdeath,dyingorsuicide
OTHER COMMON PSYCHIATRIC DISORDERS
INCLUDE:
•Obsessive-compulsivedisorder,aconditionmarkedby
recurrent,intrusivethoughtsandrepetitivebehaviors
•Mania,whichcancauseelevatedmood,overactivity,
impulsivebehaviorandinflatedself-esteem
•Bipolardisorder,aconditionwithalternatingepisodesof
depressionandmania
Inadditiontotheabovedisorders,weightlossiscommonin
peoplewithHuntington'sdisease,especiallyasthedisease
progresses.
SymptomsofjuvenileHuntington'sdisease
ThestartandprogressionofHuntington'sdiseasein
youngerpeoplemaybeslightlydifferentfromthatinadults.
Problemsthatoftenpresentearlyinthecourseofthe
diseaseinclude:
Behavioralchanges
Physicalchanges
Contractedandrigidmusclesthataffectgait(especiallyin
youngchildren)
Tremorsorslightinvoluntarymovements
Frequentfallsorclumsiness
Seizures

17. Mentalillness,alsocalledmentalhealthdisorders,referstoawiderangeofmentalhealthconditions—
disordersthataffectyourmood,thinkingandbehavior.Examplesofmentalillnessincludedepression,anxiety
disorders,schizophrenia,eatingdisordersandaddictivebehaviors.
Causes
Mentalillnesses,ingeneral,arethoughttobecausedbyavarietyofgeneticandenvironmentalfactors:
Inheritedtraits.Mentalillnessismorecommoninpeoplewhosebloodrelativesalsohaveamentalillness.
Certaingenesmayincreaseyourriskofdevelopingamentalillness,andyourlifesituationmaytriggerit.
Environmentalexposuresbeforebirth.Exposuretoenvironmentalstressors,inflammatoryconditions,
toxins,alcoholordrugswhileinthewombcansometimesbelinkedtomentalillness.
Brainchemistry.Neurotransmittersarenaturallyoccurringbrainchemicalsthatcarrysignalstootherpartsof
yourbrainandbody.Whentheneuralnetworksinvolvingthesechemicalsareimpaired,thefunctionofnerve
receptorsandnervesystemschange,leadingtodepressionandotheremotionaldisorders.
MENTAL ILLNESS