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HD2 > Investigating genetic disorders of childhood > Flashcards

Investigating genetic disorders of childhood Flashcards

1
Q

What are the most common types of death in childhood?

A

Pneumonia and diarrhoea

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2
Q

How do infections cause death of a host?

A
  • toxins of organism

- immunopathology of the host

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3
Q

What are the 2 toxins of an organism

A

Exotoxins - bacterial toxins secreted by the host

Endotoxins - forms part of outer membrane of gram negative bacteria

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4
Q

What do cholera exotoxins do?

A
  • open Cl- channels that lead to water into gut
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5
Q

What do diphtheria exotoxins do?

A
  • sore throat with pseudo membrane
  • inhibits protein synthesis by acting on heart (myocarditis and heart block) and nerves (swallowing/paralysis/diplopia difficulties)
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6
Q

What do endotoxins do?

A
  • released during organism lysis

- leads to macrophage activation

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7
Q

What are the immunological differences in children compared to adults?

A
  • immaturity (newborn babies not set to deal with viral infections - immune skewing)
  • lack of memory cells
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8
Q

What are the anatomical immunological differences in children vs adults?

A
  • thinner skin
  • shorter airways
  • anatomy of eustachian tube (more straight in otitis media)
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9
Q

What is the exposure immunological differences in children vs adults?

A
  • hygiene, nursey/day care
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10
Q

What is fever?

A
  • present with large range of infections
  • temp > 38,2 (depending on method of measurement)
  • 0.5 lower in mouth vs rectal
  • 1 lower in armpit vs rectal
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11
Q

Which infections are severe?

A 
Septicaemia
Meningitis
Pneumonia
Epiglottitis
Septic arthritis
Osteomyelitis
TB
Tetanus
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12
Q

Which infections are more common?

A
  • tonsillitis
  • Otis media
  • UTI
  • gastroenteritis
  • impetigo
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13
Q

What is septicaemia and meningitis caused by? (older children)

A
  • strep pneumoniae
  • Neisseria meningitides
  • haemophilus influenza B
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14
Q

What are the clinical symptoms of septicaemia?

A
  • tachycardia
  • tachypnoea
  • prolonged capillary refill
  • low BP
  • rash

(non specific presentation with shock)

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15
Q

What are the clinical symptoms of meningitis?

A
  • high temp
  • headaches
  • vomiting
  • not able to tolerate bright lights
  • drowsiness
  • stiff neck
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16
Q

How is meningitis diagnosed?

A
  • younger child = more non-specific
  • high suspicion
  • > 3 months do lumbar puncture
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17
Q

What does the appearance of CSF change in meningitis?

A
  • bacterial : cloudy
  • viral: clear/normal
  • TB: opalescent
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18
Q

How do the cells in CSF change in meningitis?

A
  • bacterial: neutrophils
  • viral: lymphocytes
  • TB: lymphocytes
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19
Q

How does the blood protein and glucose in CSF change in meningitis?

A
  • bacterial: high glucose, high protein
  • viral: normal protein and glucose
  • TB: very high glucose, very high protein
20
Q

What causes tetanus?

A
  • gram positive bacillus
  • spores found in soil
  • exotoxin interacts with NMJ
  • lack of maternal vaccination in pregnancy
  • use of unclean blade to cut cord
21
Q

What are the common organisms found in young infants before vaccination?

A
  • Group B strep
  • E coli
  • listeria
22
Q

What do young infants need for protection?

A

cefotaxime and amoxiciliin

- older children just need ceftriaxone as don’t need amoxicillin for listeria cover as should be vaccinated

23
Q

What is neonatal sepsis?

A
  • neonatal period is 28 days
  • ## maternal colonisation of pathogens in colon and vaginal canal
24
Q

What is the difference between early onset and late onset sepsis?

A
  • early onset: 48 hours

- late onset: within 3 days (settles in meninges of bones and joints)

25
Q

What is streptococcus penumoniae?

A
  • normal flora in 5-70%

- gram positive

26
Q

What immune defects predispose to pneumococcal infection?

A
  • absent/non functional spleen (vulnerable to pneumococcus, need vaccination and lifelong penicillin)
  • hypogammaglobulinaemia
  • HIV infection
27
Q

What splenic malfunctions may predispose pneumococcal infection?

A
  • congenital asplenia
  • traumatic removal
  • hyposplenism
28
Q

What are the non-invasive clinical features of pneumococcal infection?

A
  • acute otitis media
  • sinusitis
  • conjunctivitis
  • penumonia
29
Q

What is otitis media?

A
  • pneumococcus sits in nasopharynx
  • children tube more straight/horizontal so secretions don’t drain away vertically
  • body amounts immune response
  • pus builds up = pain
  • perforation of ear drum eventually
30
Q

What are the invasive clinical features of pneumococcal infection?

A
  • pneumonia
  • septicaemia
  • meningitis
  • peritonitis
  • septic arthritis
  • osteomyelitis

(gets into the blood stream -> can get sepsis, most of time have bug already but when from colonising to being invasive organism)

31
Q

What is pneumococcal pneumonia?

A
  • lobar and empyema
32
Q

How is empyema treated?

A
  • chest drain and urokinae
  • VATS

(pus gotten into space around the lung, compressing lung, consequence of pneumonia, BUT can be pus in any hollow space)

33
Q

What are the 2 types of pneumococcal vaccines?

A
  • pneumococcal polysaccharide vaccine (pneuvax to older people)
  • pneumococcal conjugate vaccine (proteins attached to polysaccharide, allows engagement of T helper cell, protein gets internalised and conguated protein presented as fragment for recognition as MHC, helper T cell produces signalling to produce antibody against polysaccharide)
34
Q

What are the main fungi?

A

2 types - yeasts (oval/round) and moulds (branching filaments)
Mycoses

35
Q

What are common presentations of superficial mycosis?

A
  • candidiasis (nappy rash)
  • tinea corporis (ring worm)

(treat with topical antifungal - nystatin)

36
Q

What are rare presentations of invasive mycosis?

A
  • candidemia (extremely preterm infant, effecting kidneys and brain)
  • pulmonary aspergillosis (chronic granulomatous disease, impaired neutrophil function)
37
Q

What is the difference between superficial and invasive mycosis?

A

Superficial - common and occurs in normal hosts

Invasive - rare and opportunistic infections in immunocompromised hosts

38
Q

What are the classifications of protozoa?

A
  • sporozoa
  • amoebae
  • flagellates
39
Q

What are examples of sporozoa?

A
  • plasmodium species (malaria)
  • toxoplasma gondii
  • cryptosporidium (diarrhoea)
40
Q

What are the 4 main species of malaria?

A

Plasmodium falciparum/viva/ovale/malariae

41
Q

What is an example of an amoebae?

A
  • entamoeba histolytica (amoebic dysentery)
42
Q

What are some examples of flagellates?

A
  • giardia (diarrhoea, malabsorption)
  • trypanosoma (sleeping sickness, Chagas)
  • leishmania
43
Q

Which infections are often present with fever?

A
  • bacterial infections
  • viral infections
  • parasitic infections
  • fungal infections
44
Q

Which are the cocci gram positive organisms?

A
  • staphylococcus
  • streptococcus
  • enterococcus
45
Q

Which are the bacilli gram positive organiss?

A
  • Corynebacterium
  • listeria
  • bacillus (cereus or anthracis(
  • clostridium (tetani, botulinum, difficile)

HD2 (22 decks)

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