PSE329 - Exam Prep Flashcards
(77 cards)
1
Q
general and specific therapeutic measures of an acutely sick child
A
general = maintain vital functions (oxygenation, hydration, a-b balance)
specific = treat infection, high dose IV glucose, carnitine supplementation
2
Q
clinical symptomatology of IEM
A
possibility
- acutely sick after being healthy
- intractable seizures
- unusual odour
strong possibility
- vomiting
- lethargy
- comas
- sepsis
- jaundice
- FTT
- apnoea
- family history
3
Q
clinical manifestations of IEM - neurological signs
A
- poor suck
- lethargy
- seizures
4
Q
clinical manifestations of IEM - GI signs
A
- poor feeding
- vomiting
- diarrhoea
5
Q
clinical manifestations of IEM - respiratory signs
A
- hyperpnea
- respiratory failure
6
Q
clinical manifestations of IEM - organomegaly
A
- liver
- heart
7
Q
basic biochemical mechanism of IEM
A
- transportation defects
- secondary inhibition
8
Q
first 6 steps of metabolic therapy
A
- reduce precursor substrate load
- provide caloric support
- provide fluid support
- remove metabolites via dialysis
- divert metabolites
- supplement with cofactors
9
Q
examples of newborn screens - disorders of amino acid metabolism
A
- MSUD
- homocystinuria
10
Q
examples of newborn screens - disorders of fatty acid oxidation
A
- trifunctional protein deficiency
- carnitine uptake defect
11
Q
examples of newborn screens - disorders of organic acid metabolism
A
- multiple carboxylase deficiency
- isovaleric acidaemia
12
Q
examples of newborn screens - haemoglobinopathies
A
- sickle cell disease
- haemoglobin SC disease
13
Q
examples of newborn screens - miscellaneous
A
- galactosaemia
- cystic fibrosis
14
Q
match the smell to the IEM
1 - PKU
2 - tyrosinemia
3 - maple syrup urine disease
4 - isovaleric acidemia
5 - multicarboxylase deficiencies
A
1 - PKU - musty/mousy
2 - tyrosinemia - boiled cabbage
3 - maple syrup urine disease - maple syrup
4 - isovaleric acidemia - sweaty feet
5 - multicarboxylase deficiencies - cat urine
15
Q
describe postnatal lung development from birth onwards
A
- terminal saccules continue to divide into alveoli
- alveoli number increase massively
- lung enlargement
16
Q
5 stages of lung development
A
- embryonic
- pseudoglandular
- canalicular
- saccular
- alveolar
17
Q
2 phases of lung development
A
structural and functional development
18
Q
when does surfactant production begin?
A
24 weeks (canicular phase)
19
Q
what is atelectasis?
A
collapse of entire/lobe of lung
20
Q
how does smoking affect the respiratory system?
A
- mucus and cilia in normal respiratory epithelium clean inhaled air
- function declines with years of smoking
- cigarettes have carcinogens
- carcinogens in smoke cause progressive series of epithelial changes
21
Q
define TB
A
chronic infection of the lungs caused by mycobacterium tuberulosis
22
Q
condition resulting from inadequate production of surfactant and the resultant collapse of alveoli is:
A
respiratory distress syndrome
23
Q
what is respiratory distress syndrome?
A
- when immature lungs lack sufficient surfactant, alveoli collapse
- high risk = <1kg, <28w
24
Q
how is respiratory distress syndrome treated?
A
surfactant and oxygen
25
possible factors affecting lung development in infancy and childhood
- birth weight
- premature birth
- breast feeding
- respiratory infection
- recurrent wheezing
- environmental factors
- surfactant deficiency
26
how is bone metabolism altered in COPD
- bone loss
- vitamin D depletion
- osteoporosis affects chest wall
27
key plasma enzymes and biochemical markers in liver systems and functions
hepatocyte integrity
- aspartate aminotransferase (catabolises amino acids, permitting them to enter krebs cycle)
- alanine aminotransferase
cholestasis
- alkaline phosphatase (plays a role in bile production
- y-glutamyl-transpeptidase (catalyses transfer of y-glutamyl group from peptides to other amino acids)
- bilirubin (breakdown product of haemolysis taken up by liver cells and conjugated to water-soluble product excreted in bile)
liver function mass
- serum albumin (liver synthesis albumin)
- prothrombin time (bile salts are synthesised in liver, necessary for bile absorption)
28
3 enzymes that appear in plasma and indicate what theyre a result of
increase liver ALP - due to increased canalicular pressure in obstructive biliary disease (disease)
increased y-GT - due to phenobarbital (induction by drugs)
increased serum ACP - due to prostate cancer (carcinogens)
29
6 factors that affect enyzme levels in blood
- clearance of enzymes from blood
- entry of enzymes into blood
- leakage of enzymes from cells
- efflux of enzymes from cells
- enzyme changes leading to altered enzyme production
- non-specific causes
30
briefly discuss the clinical diagnostic importance of alkaline phosphatase
ps = prostate, erythrocytes
ca = carcinoma of prostate
31
briefly discuss the clinical diagnostic importance of aspartate aminotransferase
ps = liver, skeletal muscle, heart, kidney, erythrocytes
ca = liver disease, muscle disease, myocardial infarction
32
briefly discuss the clinical diagnostic importance of lactate dehydrogenase
ps = heart, liver, skeletal muscle
ca = myocardial infarction, haemolysis
33
briefly discuss the clinical diagnostic importance of choline esterase
ps = liver
ca = insecticide, organo-phosphorus poisoning, liver disease, drug sensitivity
34
5 causes of cell damage or death that would result in high levels of enzymes in blood
genetic factors - diabetes, gout
nutritional disorders - P-E malnutrition, micronutrient deficiencies
infectious agents - viruses, bacteria
physical agents = trauma, radiation
immune mechanisms - anaphylaxis, immunity
35
define congenital disease
- disease that is present at birth
- acquired during development in uterus, not hereditary
36
define genomic imprinting
- during recombination when portions of chromosome break away or are deleted
- effects depend on if abnormal gamete is produced through oogenesis or spermatogenesis
37
describe the diagnostic application of PCR in fragile-x syndrome
- differences in size of CGG repeat between normal and pre-maturation allow for products of different sizes and mobility
- with full maturation, region between primers is too large to be amplified by PCR
38
describe the diagnostic application of southern blot analysis in fragile-x syndrome
- DNA is cut by enzymes that flank the CGG repeat region
- DNA is probed with complementary DNA that binds to affected parts of gene
- a single small bind is seen in normal males
- premature males have a higher-molecular weight brand
- those with full maturation often have a very large, usually diffuse band
39
discuss the pleiotropic gene mutation effects of sickle cell anaemia
- SCA is caused by substitution of normal adult haemoglobin with sickle cell haemoglobin
- this point mutation predisposes red cells to haemoglobin
- abnormal RBCs tend to cause episodic blocking of blood vessels by adherence
of sickle cell RBCs to vascular endothelium which results in serious complications (organ injury and failure, splenic fibrosis, bone changes)
- numerous differing end-organ derangements are all related to the primary defect in Hb synthesis
- heterozygous form of disease offers some protection against malaria
40
foodborne illness causes by foodservice worker coughing/sneezing on food
staphylococcus aureus
41
consumption of improperly canned foods can result in a deadly foodborne illness which is caused by
clostridium botulinum
42
Listeria monocytogenes is a harmful microorganism commonly found in
soft cheeses and unpasteurised milk
43
A family of two adults and three children develop gastroenteritis while vacationing in New York. The onset is abrupt with abdominal cramps and watery diarrhoea. None of the family members has a fever or nausea; nobody experiences vomiting. Within 24 hr, the symptoms have resolved. The family notes that the condition developed 10h after they had eaten a buffet dinner in a roadside café. When they report the disease to the public health office, an investigator is assigned to investigate the restaurant. The investigation reveals that one of food products eaten by the family was contaminated with
a high concentration of type A Clostridium perfringens. Which food is the most likely source of infection?
beef stew
44
list the functions of the skin
- protection from infection
- sensory organ
- control loss and movement of fluids
- insulation from trauma
- temperature regulation
45
name the pathophysiological stages or phases during burns
emergent, fluid shift, hypermetabolic, resolution
46
name the chemicals released during burn injury that will ultimately lead to burn shock
histamine, eicosanoids, kinins, serotonin
47
name the ointment used to treat burns
silver sulfadiazine
48
4 signs of premature labour
- low, dull backache
- regular uterus contractions
- watery vaginal discharge
- pelvic pressure
49
5 measures to take care of premature baby
- learn to recognise babys signs
- change environment to quiet and dim
- stay calm when baby is irritable
- use car seats correctly
- make appointments with babys caregivers
50
management of a mother suffering from premature uterine contractions
- sometimes fluid and bed rest
- sometimes meds to relax smooth muscle and block calcium channels
51
developmental age vs gestational age
gestational age = how many weeks since being born
developmental age = for premature babies, counts down weeks they should have been in the womb
52
what is respiratory alkalosis?
pCO2 <35
carbonic acid defect
53
causative factors of respiratory alkalosis
- hyperventilation
- pulmonary disease
- cerebrovascular accident
- severe anxiety
54
how does body compensate for respiratory alkalosis
kidneys conserve H+ and excrete HCO3-
55
what is respiratory acidosis
CO2 > 45
hypercapnia
56
how does body compensate for respiratory acidosis
kidneys eliminate H+ and retain HCO3-
57
hypoventilation leads to: respiratory alkalosis/acidosis
respiratory acidosis
58
what is metabolic alkalosis
HCO3- >26
59
how does the body compensate for metabolic alkalosis
most commonly occurs with renal dysfunction
60
what is metabolic acidosis?
HCO3 < 22
pH < 7.35
61
how does the body compensate for metabolic acidosis?
- increased ventilation
- renal excretion of H+
- K+ changes with excess H+ in ECF
62
a person with poorly controlled diabetes mellitus with develop: metabolic acidosis/alkalosis
metabolic acidosis
63
a person who consumes large amounts of sodium bicarbonate ("baking soda") to settle an upset stomach, risks: metabolic acidosis/alkalosis
metabolic acidosis
64
name the different buffer systems in the body
bicarb-, phosphate, and protein-buffer system
respiratory and renal mechanism
65
Osmolarity vs Osmolality
osmolarity = number of solutes per 1L solvent
osmolality = number of particles per 1kg solvent
66
define dehydration
excessive water loss in the body
67
4 symptoms associated with severe dehydration
- lethargic
- sunken eyes
- drinking poorly
- skin pinch goes back slowly
68
what is the structure of DNA?
- cylindrical nucleiod
- bullet shaped core
- 2 identical RNA
- 9 regulatory genes (6 reg, 3 structural)
69
how does HIV invade the body?
1 - starts as a free virus
2 - virus binds to cell of 2 receptor sites
3 - virus penetrates cell and empties its contents
4 - reverse transcriptase enzyme makes mirror image of RNA to crease DNA
5 - viral DNA is inserted into cells own DNA by integrase system
6 - when infected cell is divided, viral DNA is read and long protein chains are made
7 - sets of viral protein chains come together
8 - immature virus pushes out of cell, take some membrane with. protease enzyme starts processing proteins in newly formed virus
9 - immature virus breaks free from infected cell
10 - protease enzyme finished cutting HIV protein chains into individual proteins. combine to make a new working virus
70
how do you diagnose HIV
sample blood tests - see if blood contains human
antibodies specific to HIV
key tests = enzyme-linked immunosorbent assay, western blot
71
How does HIV progress to AIDS?
- HIV destroys CD4+ Th cells (important for immunity) and suppresses the immune response to other pathogens
- over time, HIV levels increase and CD4+ T cell count declines in blood
72
3 causes of hyponatraemia
- excessive sodium losses and replaced with sodium-free water
- excess water intake in relation to output
73
3 causes of hyperkalaemia
- insulin deficiency
- addisons disease
- renal disease
74
hyperkalaemia symptoms
- muscle cramps
- urine abnormalities
- respiratory distress
- decreased cardiac contractility
- EKG changes
- reflexes
75
hyperkalaemia treatment
decrease intake and increase renal secretion of insulin, glucose, bicarb and Ca++
76
hyponatraemia symptoms
- stupor
- anorexia
- lethargy
- tendon reflexes
- limp muscles
- orthostatic hypotension
- seizures
- stomach cramps
77
hyponatraemia treatment
water intoxication = limit water, admin diuretics
sodium deficiency = admin saline solution
