Paeds Flashcards

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1
Q

Cystic fibrosis inheritance pattern and gene with mutation

A

autosomal recesive

cystic fibrosis transmembrane conductance regulator gene (CFTR gene)

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2
Q

Life expectancy of cystic fibrosis

A

Mid thirties-forties

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3
Q

Presenting sx in CF

A

Meconium ileus (often first sign)
GIT - failure to thrive, pancreatic disease, intestinal obstruction
Resp - obstructive lung disease with bronchiectasis, recurrent productive cough/pulmonary infections
Sweat - real salty/electrolyte wasting
MSK - osteopaenia + #
Urogenital - UTI, nephrolithiasis

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4
Q

Investigations for CF

A

Newborn screening
Sweat test (gold standard - detects hyperchloraemic sweat) –> abnormal/borderline result –> for DNA analysis
* management of CF is supportive

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5
Q

Define bronchiolitis

A

A clinical syndrome of URTI followed by LRTI in children <2.

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6
Q

Main virus in bronchiolitis

A

Respiratory syncytial virus

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7
Q

Natural history of bronchiolitis

A

worsens over 2-3 days –> gradual recovery within 7-10 days - mild cough can persist for ~2weeks

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8
Q

Clinical features suggesting bacterial pneumonia > bronchiolitis

A
  • More lethargic
  • Temp >38.5
  • Tachycardia
  • Tachypnoea
  • Low SaO2
  • Not eating/drinking
  • Cough may be absent
  • Focal exam findings (although this is rare)
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9
Q

Management of bronchiolitis

A

Supportive only - O2 if necessary, IVF, NBM if aspiration risk. Abx if clear evidence of secondary infection.?role of SABA in child >6 months who may have asthma

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10
Q

Croup clinical syndrome

A

Hoarse voice
Barking cough
Inspiratory stridor
+/- increased WOB

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11
Q

Management of croup

A

Supportive mostly.
Mild - nil pharm
Mod-severe (increased WOB) - O2 if sats <94, adrenalin neb 1:1000, steroids (systemic pred 1mg/kg, budesonide nebs)

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12
Q

Definition of a simple febrile seizure

A
  • Age 6 months- 6 years
  • Generalised tonic clonic convulsion
  • Occurs only once in 24 hours
  • No post-ictal deficit
  • Lasts <15 min
    • Mx - treat the child as if it is septic - ie with a full septic screen
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13
Q

Definition of Cerebral Palsy

A

A non-progressive motor condition characterised by abnormalities of posture, movement and tone due to brain malformation or injury during the developmental period
** non-progressive is important

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14
Q

Classification of cerebral palsy

A
  • Spasticity (75%) - lesion in UMN - really tight/stiff muscles - scissor gait, toe walk
  • Dyskinetic (20%) - basal ganglia injury - involuntary movements: dystonia, chorea
  • Ataxic (5%) - cerebellar lesion - clumsy, unstable
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15
Q

Diagnosing cerebral palsy

A
  • clinically with exclusion of progressive disorders
  • brain MRI >2yo identifies abnormality in 80-90%
  • Functional scales describe severity and support levels
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16
Q

Comorbidities of cerebral palsy

A
Pain (75%)
epilepsy
cognitive impairment
vision and hearing impairment
feeding disorders
17
Q

Child begins declining in school performance. What are some possible causes?

A
hearing and vision impairment
seizures
OSA
alzheimers
Cardiac
Hypothyroid
ASD
Neglect/abuse/bullying
Hirschsprungs
Coeliac disease
18
Q

Primary vs secondary enuresis

A

Primary: child has always wet the bed or in nappies at night
Secondary: child becomes wet at night after >6/12 of night dryness previously

19
Q

Diagnosis of ADHD

A

At least 6 symptoms involving inattentiveness, hyperactivity, or both, that have persisted for at least 6 months. Inattention = problems listening, concentrating, paying attention to detail, organising tasks, easily distracted, often forgetful. Hyperactivity = blurting out, interrupting, fidgeting, leaving seat, talking excessively.
Onset before age 7 - behaviour inconsistent with age and development

20
Q

Management of active seizure

A

initiate treatment 5 min from seizure onset. DRS ABCD

  1. Midazolam IV 0.2mg/kg then WAIT 5 min (if no IV access midazolam 0.5mg/kg IM or buccal then WAIT 10 min)
  2. Repeat step 1
  3. Ongoing seizure after second midaz dose or for >20 min: phenytoin 20mg/kg IV infusion with saline over 20 minutes – CALL NETS and find an anaesthetist
  4. Ongoing seizures –> rapid sequence induction with thiopentone 2-5mg/kg
21
Q

Definition of anaphylaxis

A

Acute onset illness with rash and resp, cardio or severe GIT symptoms
OR
hypotension, bronchospasm or upper airway obstruction without rash

22
Q

Complications of measles

A
  • Pneumonia (primary viral or secondary bacterial)
  • Purulent conjunctivitis
  • Encephalitis
  • Diarrhoea/malabsorption
  • Death (usually due to encephalitis)
  • Croup
  • Bronchitis
  • Otitis media
23
Q

Contraindications to immunisation

A

Temp >38.5 (defer)
Previous severe reactions (anaphylaxis)
Relative (for live vaccines) - immunodeficient, pregnant, previous live vaccine within one month