Intro to pathology & disease causes Flashcards
Health
complete physical, mental and social well being
disease
malfunctioning of body or mind
Etiology
Whats the cause
Pathology
structural & functional abnormalities that are expressed as diseases of organs/systems
pathogenesis
how the etiologic agents cause a disease i.e morphological & functional chnge
lesion
unit of abnormality -anatomical
symptoms
what a patient complains abt e.g pain , restlessness, anxiety
signs
what doctors detects on exam. e.g lump, irregular heart beat
inflammation
red, swell, hot, pain, loss of function
prognosis
prospect of recovery or survival from disease
epidemiology
study of causes, distro & control of disease in a pop
syndrome
disease chrcterised by multi. abnormalities e.g downs syndrome (mental &heart defects)
lesion
structuraal abnorm. results from sickness e.g rash, growth on skin, patch of dead heart muscle in myocardial infarction
4 types of etiological agents
evnt , genetic, immuno, metabolic disorders
envt etiological agents
physical, chem, nutritional, infections, radiation, psychological
genetic factors
genes , sex
immunological causes
sle, rhEUMATOID ARTHIRITS
diseases from multifactorial etiological agents
diabetes ; hypertension; cancer
causative agent
infectious (bacterial, fungal,viral, parasitic, genetic, nutritional (kwashiorkor)
inflammatory / degenerative/ neoplastic are ex. of _________- of diseases
classification
how long is acute classification & chronic classification of disease
a - days-w / chronic = m/yrs
Do the systems inv. act as a class of disease
yes i.e cardiov; resp. ; NS, endocrine IS etc
Whats the difference bw primary & 2ndary causes of disease
primary has unknown cause & 2nd has known cause
Whats the name of abnormality present at birth
congenital
Are congenital abnorms always genetic
no cos some can develop during pregnancy and not in mum or dad = acq.
2 classes of tumours
benign/ malignant
How can the characteristics of disease be explained using…
Etiology / pathogenesis (mechanism) / manifestations (morph., functional & clinic chnge (signs & symptoms) / complications (2nd effects) prognosis = outcome & diagnosis (signs &symps = lab invest)
4 components to describe pathogenesis of a disease
aetiology , pathogenesis . signs & symptoms & complications
Describe pathogenesis of skin abscess (pus fat eye)
etiology = staph. aerus infects soft tissue ; patthogenesis = acute inflamm. & NpH from bld invade to destroy norm tissue ; in doing it - NpH killed liberating lysosomal enzymes which kill norm tissue at infection site
signs & symptoms = pus from dead tissue & dead NpH aka skin abscess
complications = septicemia if infection enters BVs
aetiology = etiology
yes
Describe pathogenesis of lung cancer
etio - cig smoke (has carcinogens that mutate cells)
p - mutation in genetic material
s&s - mutate = cancer in organs i.e lung tumour
comp - metastasis - when canc.cells spread via blood or lymphatic vessels & make 2ndary tumours in other organs
cirrhosis of liver
etio - Hep.B virus infects liver via blood
p- IR to HB kills infected LIVER cells & virus
s&s = liver cell death severe infection = - dead cells replaced by fibrous hard (scar) tissue = hardening of liver aka cirrhosis = liver failure
comp= both cirrhosis & liver failure
Hypertension Pathogenesis
etio - high bp from smoke ; clogged arteries ; high salt ; obesity etc.
p- varies ex: increased renin prod. for kidneys
s&s; none until heart,arteries & other organs damaged - dmge artery facilitates clot form = blood block to organ ; high bp etc.
comp = stroke / heart attacks; haemorrhage
Whats the prognosis for lung cancer patient (sqaumous cell Ca)
SURVIVAL 5 yrs , 15-20%
Prognosis of small cell lung ca
5 yr survival, 5%
myocardial infarction prognosis
survival: 10 yrs, 50%
3 terms to report a disease
prevalence incidence and mortality rate
diff bw prevalence & incidence rate
prevalence = total no. of patients (old & new) in given time but incidence is total no. of new cases only in a time period
mortality rate
no of total deaths/ total no. of people in pop per unit of time typically expressed as no. of deaths typically per 1000 individs per year
how to calc incidence rate
total new cases in time period divided by size of pop at risk
calc for prevalence rate
total no. of old & new patients in pop divided by no. of individs in pop at given timee
3 most common diseases in developing (low income) countries
lower resp. infections ; HIV/AIDS ; diarrhoeal
common disease in high income countries
ischaemic heart disease ; stroke ; trachea,bronchus lung infection
What is kwashiorkor
protein-energy malnutrition characterised by oedema & enlarged liver w fatty infiltrates
Gauchers disease
rare genetic disorder - lipids typically accum. in liver/spleen
Whats the TORCH complex in congenital diseases
non-genetic causes of congenital disease ; Toxoplasma Others Rubella Virus Cytomegalovirus & Herpres simplex virus
Cytogenetics
study of analysis of number & strctre of human & animal chromosomes
What period in gestation is the dvpmt of major organs
weeks 5-8 ; embryo susceptible to effects of teratogens @ this time
What infection does rubella cause & what are its secondary effects (defects from it)
intrauterine inf; causes cardiac, cerebral, opthalmic & auditory defects in fetus
What are the similar abnormalities within the TORCH complex
brain, eyes, liver & grwth retardationprod. by fatal or neonatal infection
Name some problems a baby exposed to alcohol in the womb can have
poor grwth (in wmb & after b) small head or jaw ; thin upper lip ; smooth pilthum (ridge bw nose & lip) ; cerebral palsy ; learning disorders; behavioural problems
What is latrogenic syndrome
fetal alcohol syndrome
What is thaidomide in latrogenic
immunomod. drug used as trmt of cancers i.e myeloma & comp. of leprosy - causes birth defects in babies if used on preggers
Describe is toxoplamosis pathogenesis , route & symptoms
from inf. w toxoplasma gondii parasite ; route via eating undercook. contam. meat ; infected cat faeces exposure or mum-kid transmission in preggers.
symtpms of inf. newborn = seizures, enlarged liver, spleen & eye infection
NAME chrosomal abnormalities that can cause disease
deletion; inversion ; translocation
Whats ch. translocation
abnrom from rearranged parts bw nonhomologous ch.s ; detected on cytogenetics or karyotype of affected cells
what does it mean to have unbalanced or balanced chromosome translocation
b - even xchnge of material w no gen. info extra,m missing yet functioning
unb - xhnge of chromosome material unequal = extra or missing genes
disease examples from unbalanced ch. translocation
male infertility ; duchenne muscular dystrophy ; burkitts lymphoma ; papillary thyroid cancer
Whats a ch.inversion & when does it occur
rearrangement where segment of a ch is reversed end to end ; occurs when single ch. breaks & rearranges within itslef ; simple rearrangement of linear ch. sequence
What ch. undergoes inversion commonly seen in humans
ch.9
Is ch. translocation harmful or any loss of genetic info
no
Whats a deletion
mutation where ch. or DNA seq. is lost during DNA rep. ; any no. of nts can be deleted
What can cause deletions
errors in ch.crossover during meiosis = several serious genetic diseases
do deletions that dont occur in multiples of 3 bases cause frameshift by chnging the 3 nt protein reading frame of sequence
yes
Example of disorders from medium sized deletions
Williams syndrome
What ch. rearrangement can cause Cri du chat syndrome & what is CDC
deletion; characterised by mewing cat cry, mental retard and devpmt defect
What is 5q- syndrome and its cause
caused by deletion ; defective dvpmt of RBCs = RBC shortage
3 types of diseases from gene mutations
inherited defective genes : mono/polygenic ; mitochondrial inheritance & acq. defective genes
Whats the difference between the two types of inherited defective genes
monogenic - single cell i.e CF, sicklec anaemia ; polygenic - multi i.e diabetes, bronchiol asthma
How are genes mitochondrially inherited
mito genes inherit. by maternal transmssn ; have db circular DNA ; 100% chance each kid can inherit a mito.disease i.e mitochondrial myopathy
whats mtDNA
mitochondrial DNA ; 50-100 mito per cell ; mtDNA codes for 13 pps in O2Phosph. .. needed for key systems so mutations to mito can be very impactful on humans
Give 2 examples of mutation induced diseases
sickle cell anemia & cancer
describe THE MUTATION responsible for sickle cell anaemia
SINGLE AA CHNGE in beta globin (codon for aa 6) of haemoglobin = SCA ; single nt sub (A to T mutation) chnges glutamic acid codon to valine codon = HbS (haemogobin form in SCA ppl)
what codon change causes SCAnaemia & on what no. chrosome is the B-globin (HBB) gene on
glutamic acid GAG to valine GTG ; gene located on chrosome 11/ 11p15.5;; comp of 3 exons & 147 aa protein
Describe SCA disorder in genetic terms
auto recessive; full disease needs homozygous genotype (x2 HbS) ; 1 = heterozygous SCtrait (AS genot)
What is sickle cell trait and how does it affect individs
heterozygous one copy of HbS gene ; phenotypically dominant trait ; individs normal but RBCs can sickle under low 02 pressure e.g high altitudes - AS individs exhibit phenotypic dom but still recessive genotypically
Autosomal dominant
only one abnorm copy of paired gene is needed for disease manifest.
Give 4 examples of ADominant diseases
neurofibromatosis ; polycystic kidney disease ; familial hypercholestremia; marfan syndrome
outline neurofibromatosis
defective gene on ch.17 = multi nerve sheath tumour
outline polycystic kidney disease
mutations in PKD-1 on ch.16
Marfan syndrome
fibrillin 1 gene mutation on ch.15 - disorder of CTissue, long limbs and defect in heart/aorta
familial hypercholestrolemia
characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, “bad cholesterol”), in the blood and early cardiovascular disease. About 1 in 300 to 500 people have mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B (ApoB), which is the part of LDL that binds with the receptor; mutations in other genes are
familial hypercholestrolemia
characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, “bad cholesterol”), in the blood and early cardiovascular disease. About 1 in 300 to 500 people have mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B (ApoB), which is the part of LDL that binds with the receptor; mutations in other genes are
3 examples of AR disease
inborn errors of metabolism: Tay-Sachs, pompe disease & gauchers ;;; beta- thalassemia & cyctsicF
CF
presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly normal. CFTR is involved in production of sweat, digestive fluids, and mucus. When CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing.
CFTR functions as an ATP-gated anion channel, increasing the conductance for certain anions (e.g. Cl−) to flow down their electrochemical gradient. The CFTR is found in the epithelial cells of many organs including the lung, liver, pancreas, digestive tract, reproductive tract, and skin. Normally, the protein moves chloride and thiocyanate ions (with a negative charge) out of an epithelial cell to the covering mucus. Positively charged sodium ions follow passively, increasing the total electrolyte concentration in the mucus, resulting in the movement of water out of the cell via osmosis. Defective CFTR results in reduced transport of sodium chloride and sodium thiocyanate in the reabsorptive duct and therefore saltier sweat. This was the basis of a clinically important sweat test for cystic fibrosis before genetic screening was available.
X linked recessive diseases
rare in fems ; Haemophilia A (clotting fctr VIII deficiency- Xq28) rare bleeding disorder of abnorm clotting ; X-linked agammaglobulinemia ; duchenne musc.dystrophy
Describe the 2 Diseases from abnormal sex chromosomal number
Turner - 45X (fem short , webbed neck, undvpd ovaries)
Klinefelters syndrome 47XXY (men w fem type pubic hair, small testicles, wide hips , breasts)
Down syndrome
abnorm somatic ch.no ; common cause of intellectual disability (1/3) ; john down in 1866 described it and 1959 disc. presence of extra ch.21 is cause
down syndrome trisomy 21
extra copy of ch.21 or atleast a segment of it ; intellect disability = IQ bw 25-70
Describe downs syndrome
short body parts; flat nose; increased risk of leuk or. immuno deficiencies ; mental retard characterised by deposition of amyloid glycoprotein
50% cases with congenital heart defects come from DS
true
How Does incidence of DSyndrome change with increasing maternal age (MA)
Increases from MA 20 : 1 in 500 incidence @ birth to 1 in 30 at MA 40
2 bacteria types that cause diseases
gram positive & negative
endotoxin vs exotoxin
endotoxin vs exotoxin
SLID ETABLES
exotoxin
gram pos ; secreted by growing cells usually in protein form and neutralisation by antitoxin USE TABLE ON SLIDE
VIRUSES
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