Clinical Paediatrics Flashcards
DNA Sequencing
Works out the exact base sequence of the genome/exome to detect small changes - used for smaller changes such as small parts of the gene or a single base
Array Comparative Genomic Hybridisation (Array CGH)
Fluorescent labelled DNA sample of patient compared to that of a control, and comparison shows if there are extra/missing bits - looks at chromosomal or larger gene changes
Fluorescence In-Situ Hybridisation (FISH)
Uses a radioactively-labelled probe, to “stick” to a known sequence of DNA-usually a known mutation. If that sequence is present in a patient’s sample, the probe will bind to it and light up under a fluorescent microscope.
What are key anatomical differences between children and adults?
- Large head and prominent occiput
- Large surface area compared to body
- High anterior larynx and floppy epiglottis
- More flexible ribs
- Blood volume 80mls/kg (so total volume much smaller)
- Foetal haemoglobin at birth
What is the most common arrhythmia in children?
SVT
What does baby vomiting green/bile mean until proved otherwise?
Malrotation (surgical emergency)
What are concerning features with abdominal pain in children?
- Involuntary weight loss.
- Deceleration of linear growth.
- Gastrointestinal blood loss
- Significant vomiting.
- Chronic severe diarrhoea.
- Unexplained fever.
- Persistent right upper or right lower quadrant pain.
- Family history of inflammatory bowel disease.
What are concerning features with headaches in children (indicating ICP)?
- Headache on waking
- Worse with coughing or bending
- Associated vomiting- especially in the morning
- Visual disturbance
- Gait disturbance
- Cranial nerve palsy
What kind of murmur is commonly found in children?
Innocent - a soft systolic murmur with no radiation
What are red flags for a heart murmur in children?
Breathless, blue, pale, sweaty and poor feeding
What are characteristics of innocent murmurs in children?
- Systolic
- Low intensity
- 2nd left interspace
- Medial to apex
- Beneath either clavicle (may be continuous- ‘venous hum’ –disappears when supine
What are the red flag symptoms for cardiac syncope in children?
- Syncope in a child with known congenital heart disease.
- Syncope during exercise or when supine.
- Family history of sudden death, prolonged QT syndrome or hypertrophic cardiomyopathy.
- Syncope preceded by palpitations.
- Heart murmur or other abnormalities on cardiovascular examination.
What are the normal parameters for vitals in children of different ages?
What are indicators of effort of breathing?
- Rate
- Recession (sternal and intercostal recession)
- Accessory muscle use
- Grunting - shows they are giving themselves Continuous Positive Airway Pressure (CPAP)
- Nasal flaring
What are indicators of efficacy of breathing in children?
- Expansion
- Additional noises - Inspiratory stridor or Expiratory wheeze
- Pulse oximetry
- Effects on end organs – conscious level, pallor, tachycardia
What is abnormal posturing, what does it indicate and what are the types?
An involuntary flexion or extension of the arms and legs, indicating severe brain injury. It occurs when one set of muscles becomes incapacitated while the opposing set is not, and an external stimulus such as pain causes the working set of muscles to contract.
Two main types:
- Decorticate - with the arms flexed over the chest
- Decerebrate posturing - with the arms extended at the sides
