pse Flashcards
general and specific therapeutic measures of an acutely sick child
general = maintain vital functions (oxygenation, hydration, a-b balance)
specific = treat infection, high dose IV glucose, carnitine supplementation
clinical symptomatology of IEM
possibility
- acutely sick after being healthy
- intractable seizures
- unusual odour
strong possibility
- vomiting
- lethargy
- comas
- sepsis
- jaundice
- FTT
- apnoea
- family history
clinical manifestations of IEM - neurological signs
- poor suck
- lethargy
- seizures
clinical manifestations of IEM - GI signs
- poor feeding
- vomiting
- diarrhoea
clinical manifestations of IEM - respiratory signs
- hyperpnea
- respiratory failure
clinical manifestations of IEM - organomegaly
- liver
- heart
2 basic biochemical mechanisms of IEM
- transportation defects
- secondary inhibition
first 6 steps of metabolic therapy
- reduce precursor substrate load
- provide caloric support
- provide fluid support
- remove metabolites via dialysis
- divert metabolites
- supplement with cofactors
examples of newborn screens - disorders of amino acid metabolism
- MSUD
- homocystinuria
examples of newborn screens - disorders of fatty acid oxidation
- trifunctional protein deficiency
- carnitine uptake defect
examples of newborn screens - disorders of organic acid metabolism
- multiple carboxylase deficiency
- isovaleric acidaemia
examples of newborn screens - haemoglobinopathies
- sickle cell disease
- haemoglobin SC disease
examples of newborn screens - miscellaneous
- galactosaemia
- cystic fibrosis
match the smell to the IEM
1 - PKU
2 - tyrosinemia
3 - maple syrup urine disease
4 - isovaleric acidemia
5 - multicarboxylase deficiencies
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
describe postnatal lung development from birth onwards
- terminal saccules continue to divide into alveoli
- alveoli number increase massively
- lung enlargement
5 stages of lung development
- embryonic
- pseudoglandular
- canalicular
- saccular
- alveolar
2 phases of lung development
structural and functional development
when does surfactant production begin?
24 weeks (canicular phase)
what is atelectasis?
collapse of entire/lobe of lung
how does smoking affect the respiratory system?
- 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
define TB
chronic infection of the lungs caused by mycobacterium tuberulosis
condition resulting from inadequate production of surfactant and the resultant collapse of alveoli is:
respiratory distress syndrome
what is respiratory distress syndrome?
- when immature lungs lack sufficient surfactant, alveoli collapse
- high risk = <1kg, <28w
how is respiratory distress syndrome treated?
surfactant and oxygen
7 possible factors affecting lung development in infancy and childhood
B3RRESD
- birth weight
- premature birth
- breast feeding
- respiratory infection
- recurrent wheezing
- environmental factors
- surfactant deficiency
how is bone metabolism altered in COPD
- bone loss
- vitamin D depletion
- osteoporosis affects chest wall
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)
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
briefly discuss the clinical diagnostic importance of alkaline phosphatase
ps = prostate, erythrocytes
ca = carcinoma of prostate
briefly discuss the clinical diagnostic importance of aspartate aminotransferase
ps = liver, skeletal muscle, heart, kidney, erythrocytes
ca = liver disease, muscle disease, myocardial infarction
briefly discuss the clinical diagnostic importance of lactate dehydrogenase
ps = heart, liver, skeletal muscle
ca = myocardial infarction, haemolysis
briefly discuss the clinical diagnostic importance of choline esterase
ps = liver
ca = insecticide, organo-phosphorus poisoning, liver disease, drug sensitivity
5 causes of cell damage or death that would result in high levels of enzymes in blood
GNIPI
genetic factors - diabetes, gout
nutritional disorders - P-E malnutrition, micronutrient deficiencies
infectious agents - viruses, bacteria
physical agents = trauma, radiation
immune mechanisms - anaphylaxis, immunity
define congenital disease
- disease that is present at birth
- acquired during development in uterus, not hereditary
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
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
foodborne illness causes by foodservice worker coughing/sneezing on food
staphylococcus aureus
consumption of improperly canned foods can result in a deadly foodborne illness which is caused by
clostridium botulinum
Listeria monocytogenes is a harmful microorganism commonly found in
soft cheeses and unpasteurised milk
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
list the functions of the skin
- protection from infection
- sensory organ
- control loss and movement of fluids
- insulation from trauma
- temperature regulation
name the pathophysiological stages or phases during burns
emergent, fluid shift, hypermetabolic, resolution
name the chemicals released during burn injury that will ultimately lead to burn shock
histamine, eicosanoids, kinins, serotonin
name the ointment used to treat burns
silver sulfadiazine
4 signs of premature labour
- low, dull backache
- regular uterus contractions
- watery vaginal discharge
- pelvic pressure
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
management of a mother suffering from premature uterine contractions
- sometimes fluid and bed rest
- sometimes meds to relax smooth muscle and block calcium channels
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
what is respiratory alkalosis?
pCO2 <35
carbonic acid defect
causative factors of respiratory alkalosis
- hyperventilation
- pulmonary disease
- cerebrovascular accident
- severe anxiety
how does body compensate for respiratory alkalosis
kidneys conserve H+ and excrete HCO3-
what is respiratory acidosis
CO2 > 45
hypercapnia
how does body compensate for respiratory acidosis
kidneys eliminate H+ and retain HCO3-
hypoventilation leads to: respiratory alkalosis/acidosis
respiratory acidosis
what is metabolic alkalosis
HCO3- >26
how does the body compensate for metabolic alkalosis
most commonly occurs with renal dysfunction
what is metabolic acidosis?
HCO3 < 22
pH < 7.35
how does the body compensate for metabolic acidosis?
- increased ventilation
- renal excretion of H+
- K+ changes with excess H+ in ECF
a person with poorly controlled diabetes mellitus with develop: metabolic acidosis/alkalosis
metabolic acidosis
a person who consumes large amounts of sodium bicarbonate (“baking soda”) to settle an upset stomach, risks: metabolic acidosis/alkalosis
metabolic acidosis
name the different buffer systems in the body
bicarb-, phosphate, and protein-buffer system
respiratory and renal mechanism
Osmolarity vs Osmolality
osmolarity = number of solutes per 1L solvent
osmolality = number of particles per 1kg solvent
define dehydration
excessive water loss in the body
4 symptoms associated with severe dehydration
- lethargic
- sunken eyes
- drinking poorly
- skin pinch goes back slowly
what is the structure of DNA?
- cylindrical nucleiod
- bullet shaped core
- 2 identical RNA
- 9 regulatory genes (6 reg, 3 structural)
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
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
3 causes of hyponatraemia
- excessive sodium losses and replaced with sodium-free water
- excess water intake in relation to output
3 causes of hyperkalaemia
- insulin deficiency
- addisons disease
- renal disease
hyperkalaemia symptoms
- muscle cramps
- urine abnormalities
- respiratory distress
- decreased cardiac contractility
- EKG changes
- reflexes
hyperkalaemia treatment
decrease intake and increase renal secretion of insulin, glucose, bicarb and Ca++
hyponatraemia symptoms
- stupor
- anorexia
- lethargy
- tendon reflexes
- limp muscles
- orthostatic hypotension
- seizures
- stomach cramps
hyponatraemia treatment
water intoxication = limit water, admin diuretics
sodium deficiency = admin saline solution
