epid + paeds

Question 1

reasons for increasing genetic diseases

Answer 1

environ pollution- mutagenic substances, drug use
improved diagnostic techniques

Question 2

human genome

Answer 2

diploid with 22 prs of auto and 1 pr allosome

Question 3

approach for prevention

Answer 3

basic public health measures
detection of genetic risk
genetic family study
population screening

Question 4

downs epid

Answer 4

commonest chrom disease
trisom 21
highest incidence in malay, chinese, indian

Question 5

risk factors for downs

Answer 5

advanced mat age >35
mothers who already had downy child
parents who are carriers of genetic translocation for downs

Question 6

manifestations of downs

Answer 6

small ed, recessed nose
mental retardation
delayed development
short stubby
congent heart disease common

Question 7

mortality of ds

Answer 7

25-50 years
most common cause of d is chd, aai
survival better for males

Question 8

pituitary origin of hypersec of glucocorticoids

Answer 8

cushings disease

Question 9

adrenal origin of hypersec of glucocorticoids

Answer 9

cushings syndrome

Question 10

cushings dx causes

Answer 10

inc sec of acth
pit tumour or
hypoth d/o

Question 11

signs of cushings

Answer 11

red moon face
poor wound healing and increased bruising
red striae and pendulous abdom
buffalo hump

Question 12

what causes dbt insip

Answer 12

lesions or damage to supraoptic & paravent nuclei
lesions on the hypo-pit tract
atrophy of post pit
inability of renal tubules response to adh (Nephrogenic)

Question 13

symptoms of di

Answer 13

polyuria (>4l/day)
polydispia
dehydration + signs of

Question 14

nephro dbt insip causes

Answer 14

inherited - kidney resistance to adh
acquired- lithium drug use, obstruction of ureter, prolonged metab imbalance

Question 15

risk factors of pit tumour

Answer 15

1. MEN1 - multiple endocrine neoplasia type 1
2. carney complex - genetic condition
3. familial acromegaly

Question 16

function of thyroid hormones

Answer 16

facilitate growth and devel
inc metab
inc catecholamine effects

Question 17

f or m more likely to devel thyroid d/s

Answer 17

f x5 more than m

Question 18

1° hypothy causes

Answer 18

iodine def
thyroid surgery
hashimotos
genetic
goitrogenic food
drugs - lithium

Question 19

2° hypothy causes

Answer 19

hypopit
adenoma/ablation/pit destruction

Question 20

3° hypothy causes

Answer 20

hypothalamic dysfunction

Question 21

sympts of hypothyroidism

Answer 21

tiredness
cold
wg
hoarse voice
constip
myxedema
menorrhagia

Question 22

risk factors for hypothyroidism

Answer 22

f >60 yo
autoimmune disease
radioactive treatment
thyroid surgery
preggos in last 6 months

Question 23

hashimotos dx

Answer 23

autoimmune attack on thyroid

Question 24

common causes of hyperthyroidism

Answer 24

graves
toxic multinodular goitre
thyroiditis

Question 25

rare causes of hyperthyroidism

Answer 25

tsh pit tumour
thyroid cancer

Question 26

hyperthyroidism symptoms

Answer 26

sweating and heat
bulging eyes
large thyroid
tachycardia
tremours
insomnia
diarrhea

Question 27

hyperthyroidism risk factors

Answer 27

f
autoimmune ds
smoking
vit d def
incr iodine intake
preggy

Question 28

addisons dx

Answer 28

inadequate sec of acth from pit

Question 29

addisons symp

Answer 29

bronze skin
postural hypotn
change in distrib of hair
wl
weakness

Question 30

cushings synd

Answer 30

collection of signs due to prolonged cortisol exposure

Question 31

pheochromocytoma

Answer 31

tumour in medulla of ad gland that prod large amounts of catecholamines

Question 32

neuroblastoma

Answer 32

neural crest cells dont diff properly and ultimately form a tumour in the medulla
most common extra cranial tumour im childhood

Question 33

bone age

Answer 33

measurement of the osseous maturation in o pong bones usually at hand or wrist

Question 34

th def in childhood

Answer 34

retarded skel development
delayed bone age
growth arrest

Question 35

th excess in childhood

Answer 35

accel skel development
growth with advanced bone age
premature fusion > short stature
craniosynostosis > prem fusion of sutured

Question 36

zona glom h released

Answer 36

mineralocorticoids - mineral balance eg aldos

Question 37

zona fasc h released

Answer 37

glucocorticoids - gluc metab control eg cortisol

Question 38

zona ret h release

Answer 38

androgens - stim masculinization

Question 39

adrenal medulla h release

Answer 39

stress hormones - stim symp ans eg epin

Question 40

21 oh def

Answer 40

dec cortisol and aldos
inc progest, sex steroids