Week 2 Flashcards

1
Q

What are the respiratory anatomical differences between children and adults

A

Children have high anterior larynx and floppy epiglottis

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2
Q

What condition is predisposed to children due to large surface area to volume ratio of children

A

Hypothermia

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3
Q

Why may minor bleeding have more impact on children than adults

A

Because children have lower blood volume. This means that minor bleedings are more significant

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4
Q

Flexible ribs and sternum can mean that

A
  1. underlying structures are less well protected. potential for pulmonary/mediastinal injury to occur without significant signs of external injury
  2. strong force is required to break the ribs of children which indicates NAI
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5
Q

Common respiratory problems in children

A

Bronchiolitis
Croup
Viral URTI
Asthma
Tonsilitis

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6
Q

Viral URTI can be caused by

A

rhinovirus
adenovirus
influenza

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7
Q

Bronchiolitis is most commonly seen in

A

Children under age of 1
Infants usually get bronchiolitis in their first / second winter

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8
Q

Which pathogen is the most common pathogen causing bronchiolitis

A

RSV

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9
Q

Symptoms of bronchiolitis

A

Noisy breathing
Runny nose
Watery eyes
Mucus in throat
Dyspnoea
Tachypnoea
Poor feeding
Mild temperature

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10
Q

What can be heard on auscultation if the child has bronchiolitis

A

Wheezing and crackling

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11
Q

Management of bronchiolitis

A

Supportive

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12
Q

What is croup

A

Upper respiratory tract infection causing narrowing of the upper airway due to oedema

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13
Q

What is the breathing noise caused by narrowing of upper airway

A

Stridor

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14
Q

What is the breathing noise caused by narrowing of lower airway

A

Wheeze

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15
Q

Around how much narrowing of upper airway is needed to hear stridor

A

70%

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16
Q

What is the most common causative pathogen of croup

A

Influenza

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17
Q

What other pathogens are the causative pathogens of croup

A

RSV
Adenovirus

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18
Q

What are the differential diagnosis of stridor

A

Inhaled foreign body
Epiglottitis
Bacterial tracheitis

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19
Q

Management of mild croup

A

Usually Self limiting
Oral steroid if needed

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20
Q

Management of moderate to severe croup

A

Hospital admission
1. Oral / IM dexamethasone or nebulised budesonide
2. Oxygen
3. Nebulised adrenaline
4. Intubation and ventilation

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21
Q

Triggers of acute asthma

A

Infection
Cold weather
Exercise
Allergies

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22
Q

What is the normal RR in children (<1 years old)

A

30-40

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23
Q

What is the normal RR in children 2-5 years old

A

25-30

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24
Q

What is the normal RR in children (>5 years old)

A

20-25

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25
Q

What is considered as moderate asthma attack

A

Peak flow > 50% of predicted
Normal speech

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26
Q

What is considered as severe asthma attack

A

SpO2 < 92%
Peak flow 33-50% of predicted
Too breathless to talk or feed
Heart rate
>125 (>5 years)
>140 (1-5 years)
Respiratory rate
>30 breaths/min (>5 years)
>40 (1-5 years)
Use of accessory neck muscles

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27
Q

What is considered as life threatening asthma attack

A

<92% O2 sat
Peak flow < 33% of predicted
Silent chest
Poor respiratory effort
Agitation
Cyanosis
Altered consciousness / confusion

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28
Q

Other than bronchiolitis, what other respiratory condition can cause wheezing

A

Asthma

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29
Q

What factors can trigger an acute asthma attack

A

Infection
Cold weather
Exercise
Allergies

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30
Q

How is asthma diagnosed

A

Peak flow test
Trial of SABA
Spirometry - FEV1/FVC
FeNO if still unclear

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31
Q

What would FEV1/FVC ratio be for asthma

A

Obstructive pattern; FEV1/FVC < 70% than predicted

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32
Q

Drug therapy for asthma for children 5-16 years old

A

SABA as reliever therapy
Start maintenance therapy if symptoms occur 3 or more times in a week / SABA is ineffective
1. very low dose ICS / LRTA (for under 5)
2. very low dose ICS + LTRA
3. very low dose ICS + LABA
4. MART regime

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33
Q

What is MART regime

A

A single inhaler containing both low dose ICS and LABA. Used daily for maintenance and relief

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34
Q

What should be checked before adding more drugs to treat asthma

A

Inhaler technique
Compliancy

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35
Q

What is pneumonia

A

Inflammation of the lung tissue causing swelling and sputum to build up in airways and alveoli

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36
Q

Most common causative pathogen for pneumonia

A

Streptococcus pneumonia

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37
Q

What other bacteria commonly cause pneumonia

A

Group A Strep
Staph aureus
H influenza

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38
Q

What virus can cause pneumonia

A

RSV

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39
Q

Symptoms of pneumonia

A

High fever
Wet cough
Tachypnea
Tachycardia
Increased work of breathing
Lethargy / altered state of consciousness
Cyanosis

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40
Q

What is considered as tachypnea in a child under 1

A

> 40 RR

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41
Q

What is considered as tachycardia in a child under 1

A

> 160

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42
Q

What is the normal RR in a child between 1-2 years old

A

25 - 35

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43
Q

What is the normal RR in a child between 2-5

A

25 - 30

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44
Q

What is the normal RR in a child between 5-12

A

20 - 25

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45
Q

What is the normal HR in a child between 2-5

A

95-140

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46
Q

What signs are seen when a child increases work of breathing

A

Nasal flaring
Grunting
Intercostal / Substernal Retraction
Using abdominal muscles

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47
Q

Investigations for pneumonia

A

O2 Sat
Capillary refill time
How many wet / dirty nappies
Auscultation / Percussion

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48
Q

What can a long capillary refill time suggest

A

Dehydration
Poor perfusion
Peripheral vasoconstriction

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49
Q

Management for pneumonia

A
  1. Amoxicillin
  2. Macrolide if amoxicillin is not enough

Continue breast-feeding

Stay hydrated

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50
Q

Management for pneumonia associated with influenza

A

Co-amoxiclav

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51
Q

What is encephalitis

A

Inflammation of the brain due to other infections spreading to the brain

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52
Q

Most common causative pathogen of encephalitis

A

Herpes simplex virus

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53
Q

What are the causative pathogens of encephalitis

A

Herpes Simplex virus
VZV
CMV

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54
Q

Other than encephalitis, what other infections do VZV (varicella zoster virus) cause

A

Chickenpox and Shingles

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55
Q

Symptoms of encephalitis

A

Altered consciousness
Unusual behaviour
Confusion
Drowsiness
Seizures

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56
Q

Investigations for encephalitis

A

Lumbar puncture
Imaging (MRI / CT)

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57
Q

Management of encephalitis

A

Antiviral drugs
Supportive care such as
-fluid
-painkillers
-anti convulsants for seizures

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58
Q

What is meningitis

A

Inflammation of the meninges layer of the brain

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59
Q

What is the most common causative pathogen for meningitis

A

Neisseria meningitidis

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60
Q

What is the most common causative pathogen for meningitis in neonates

A

Group B Strep

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61
Q

What are the causative pathogens of meningitis

A

Neisseria meningitides
Group B strep
Strep Pneumoniae
H influenza type B
Measles Mumps Rubella viruses

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62
Q

Symptoms of meningitis

A

Photophobia
Altered consciousness
stiff neck
non-blanching red-purple rash
High fever

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63
Q

Investigations for meningitis

A

Lumbar puncture
MRI/CT
PCR

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64
Q

Management of meningitis

A

Stat dose of cefotaxime for those under 3m
IV benzypenicillin for those above 3m

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65
Q

When should you suspect meningitis in neonates

A

Unexplained high fever; babies may only present with high fever

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66
Q

What are some examples of non-epileptic paroxysmal events

A

Febrile seizure
Vaso Vagal syncope
Sandifer syndrome
Reflex anoxic seizure
Breath holding attacks

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67
Q

What causes febrile seizures

A

Due to high fevers caused by illnesses

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68
Q

Febrile seizures are most commonly seen in children of what age

A

6 months - 6 years of age

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69
Q

What is Sandifer syndrome

A

Apnoea and involuntary muscle contractions of the head, neck and back due to GORD

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70
Q

Triggers of vasovagal syncope

A

Infections
Heat
Low food and water intake
Prolonged standing
Stress

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71
Q

What triggers reflex anoxic seizure

A

Sudden unexpected pain or discomfort such as banging their head

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72
Q

Why do children experiencing reflex anoxic seizure become hypotensive

A

Due to vagally mediated severe bradycardia / asystole

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73
Q

What reactions may adults with childhood reflex anoxic seizures have when they see needles and blood

A

Faint

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74
Q

What causes breath holding attacks

A

Angry frustrated children after prolonged crying causing prolonged expiratory apnoea (breathing out and holding breath)

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75
Q

Breath holding attacks usually occur in children of what age

A

6-18 months

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76
Q

Different types of immunological mechanisms

A

Active immunity
Passive immunity
Herd immunity

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77
Q

What is active immunity

A

Immunity acquired due to direct contact with antigens causing production of antibodies

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78
Q

Mechanism of effect of vaccines

A

Artificially inducing active immunity

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79
Q

Which immune cell is responsible for humoral immune system (produces serum antibodies)

A

B cells

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80
Q

What is passive immunity

A

Transfer of pre-formed antibodies to another person allowing the person to be immune without having contact with the antigen

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81
Q

Examples of how passive immunity may occur

A

From mother to baby
From another person / animal

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82
Q

How long do the antibodies from mothers last in babies

A

up to 1 year

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83
Q

Why isn’t measles vaccine offered to babies till they are 1 year old

A

Because of maternal antibodies giving them passive immunity

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84
Q

Why are certain vaccines offered to babies before they become 1 year old

A

Because maternal antibodies are only effective to certain antigens, not all

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85
Q

Disadvantages of passive immunity

A

Short term protection - antibodies will break down eventually and not be replaced
Short time window - if not given quick enough, it may be less useful
Hypersensitivity reaction

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86
Q

Types of vaccines

A

Whole pathogen vaccines
Subunit vaccines
Virus like particles
Viral vectored vaccines
Nucleic acid vaccines (DNA/RNA)

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87
Q

Types of whole pathogen vaccines

A

Live attenuated vaccines
Inactivated whole organisms

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88
Q

Examples of live attenuated vaccines

A

MMR
Shingles
Rotavirus

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89
Q

Types of subunit vaccines

A

Recombinant protein vaccines
Toxoid vaccines
Conjugate vaccines

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90
Q

What are virus vectored vaccine

A

attenuated / harmless virus to deliver genes for target antigen into body cells to trigger immune response

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91
Q

How do nucleic acid vaccines work

A

Provide genetic instructions of antigen for body cells to produce to trigger immune response

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92
Q

Contraindications to vaccines

A

Previous Anaphylaxis reaction
Immunosuppression
Pregnancy
Egg/latex allergy (some vaccines use eggs)
Unresolved illness

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93
Q

Proportion required for herd immunity to be effective depends on

A

Transmissibility and infectiousness of the pathogen
Social mixing in population

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94
Q

What is diphtheria

A

URTI causing white adherent membrane on the tonsils, pharynx and nasal cavity

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95
Q

Causative pathogens of diphtheria

A

Corynebacterium diphtheria

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96
Q

Notification of infectious diseases

A

Doctors are responsible in notifying certain infectious diseases to public health

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97
Q

Which diseases that people are already protected against but should be notified

A

Diphtheria
Whooping cough
Polio
H influenza type B
MMR
Meningococcal
Tetanus

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98
Q

What can Neisseria Meningitidis cause

A

meningitis
Septicaemia

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99
Q

How is meningococcal disease spread

A

Droplet infection

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100
Q

Which group of people are at risk of meningococcal disease

A

<5 years old
15-24 years old

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101
Q

Things (except the usual stuff) that must be asked while taking history for a child

A

Eating / drinking
Bowels / urine
Immunisation history
Delivery method
Breastfed or not
Parental concern

102
Q

What are the common cardiovascular problems in children

A

CHD
Supraventricular tachycardia
Infective endocarditis

103
Q

What are the common CHD

A

Ventricular septal defect
Atrioventricular septal defect
Atrial septal defect
Patent ductus arteriosus
Tetralogy of Fallot
Coarctation of the aorta

104
Q

What is supraventricular tachycardia

A

Arrhythmia originating from the upper part of the heart

105
Q

Conditions that causes supra ventricular tachycardia

A

A Fib
Wolff Parkinson White syndrome
Atrial flutter
Paroxysmal supra ventricular tachycardia

106
Q

Development of A fib

A
  1. atrial ectopics develop
  2. these atrial ectopics trigger AF and changes in the atria such as hypertrophy sustains this abnormal electrical activity
  3. atria contracts independently and ineffectively
  4. the abnormal electrical impulse is intermittently transmitted to the ventricles via AVN causing abnormal ventricular contractions
107
Q

Why are young people more symptomatic when they have A fib

A

Because their AVN conduction speed is fast so the ventricular contraction rate is faster

108
Q

Why is there an increased risk of stroke if a person has A fib

A

Blood stasis caused by ineffective contractions in the atria increases risk of blood clots

109
Q

Risk factors for A fib (being able to sustain the abnormal electrical activity)

A

Mitral regurgitation
Atrial / ventricular hypertrophy
Atrial / ventricular dilation
Hypertension
Obesity
Wolff-Parkinson White syndrome

110
Q

Investigations for A fib

A

Measure radial, carotid and apical pulses
ECG
Echo
Auscultation

111
Q

Why do you need to measure 3 different pulses if you suspect A fib in a patient

A

Because some ventricular contractions may not be strong enough to transmit a tachycardic pulse to the radial artery hence you may miss the tachycardia

112
Q

Symptoms of A fib

A

Palpitations
Dizziness / lightheadedness
Presyncope
Syncope
Chest pain
SOB

113
Q

Management of A fib if the patient is haemodynamically unstable

A

Synchronised DC cardioversion

114
Q

When is unsynchronised DC cardioversion used

A

if the patient is pulseless

115
Q

Management of A fib in a haeodynamically stable patient

A

Rate control
Rhythm control
Anticoagulation

116
Q

When are rate control drugs used in A fib

A

For patients who are
- onset of AF <48 hrs or >48 hrs
- AF is due to non-reversible cause
- does not have HF due to AF
- rhythm control is contraindicated

117
Q

What drugs are for rate control

A

Beta blockers
Rate controlling CCB (verapamil, dilitiazem)
Digoxin

118
Q

Examples of rate controlling CCB

A

verapamil
dilitiazem

119
Q

Examples of rhythm controlling drugs

A

Flecainide
Amiodarone

120
Q

Why isn’t amiodarone used as a long term treatment for arrhythmias

A

It can cause
1. lung fibrosis
2. photosensitivity
3. liver failure
4. thyroid dysfunction

121
Q

What special precautions should doctors be aware of when injecting amiodarone

A

Skin necrosis due to extravasion

122
Q

Flecainide is avoided in

A

patients with ischaemic heart disease

123
Q

Development of Wolff Parkinson White syndrome

A

Congenital abnormal accessory pathway allowing electrical impulse to bypass AVN and stimulate the ventricles before the actual regulated excitation = double excitation

124
Q

Factors that trigger episodes of Wolff Parkinson White syndrome

A

Alcohol
Caffeine
Strenuous exercise

125
Q

Symptoms of Wolff Parkinson White syndrome

A

Palpitations
Presyncope / syncope
SOB
Chest pain
Lightheadedness

126
Q

What are the features on an ECG of a patient with Wolff Parkinson White syndrome

A

Delta waves
Widened QRS
Short PR interval

127
Q

What are delta waves

A

Slurred upstroke of QRS

128
Q

Management of Wolff Parkinson White syndrome

A

No treatment if only experience occasional episode
lifestyle changes
Vagal manoeuvres if experiencing an episdoe
IV adenosine
Cardioversion
Cardiac ablation

129
Q

What are the vagal manoeuvres

A

Valsalva manoeuvre
Carotid sinus

130
Q

Describe the Valsalva manoeuvre

A

Forced expiration while holding the nose closed

131
Q

Describe the carotid sinus manoeuvre

A

Press onto carotid sinus for 10 seconds

132
Q

When is IV adenosine used in Wolff-Parkinson White syndrome

A

When vagal manoeuvres don’t work

133
Q

Why may cardiac ablation be preferred to treat Wolff-Parkinson White syndrome

A

To prevent episodes in the long run

134
Q

What is gastroenteritis

A

Enteric infection causing diarrhea +/- vomiting

135
Q

What are the other terms used for gastroenteritis

A

Food poisoning
Traveller’s diarrhea
Dysentery

136
Q

What is classified as traveller’s diarrhea

A

Diarrhea +/- vomiting that occurred during or within 10 days of returning form a resource-limited country

137
Q

What is dysentery

A

Diarrhea + blood or mucus

138
Q

How may gastroenteritis cause death

A

Severe dehydration
Shock

139
Q

Symptoms of gastroenteritis

A

Diarrhea
Vomiting
bloating / cramping

140
Q

Signs of dehydration

A

prolonged capillary refill time
Poor urine output
Headache

141
Q

What type of pathogen is the main causative pathogen of gastroenteritis

A

Virus

142
Q

Which viruses most commonly causes gastroenteritis

A

Rotavirus (less now due to vaccines)
Norovirus
Adenovirus

143
Q

Bacteria can also cause gastroenteritis. What are the common bacteria that causes gastroenteritis

A

S aureus
Bacillus Cereus

144
Q

Bacteria can sometimes cause either watery or bloody diarrhea. Which bacteria causes watery diarrhea

A

C. difficile
Enterotoxigenic E coli (ETEC)

145
Q

Bacteria can sometimes cause either watery or bloody diarrhea. Which bacteria causes bloody diarrhea

A

Non-typhoidal salmonellosis
Campylobacter
Enterohaemorrhagic E coli (EHEC)

146
Q

Investigations for gastroenteritis (if severe)

A

Stool culture
Bloods

147
Q

Management of gastroenteritis

A

Maintain good hydration
Rest
Anti diarrhoeal agents such as loperamide

148
Q

What is volvulus

A

when the bowel twists around itself and the mesentery it is attached to

149
Q

Why is the mesentery important

A

Because it contains blood vessels and lymphatics that supplies and drains the intestines

150
Q

What can volvulus lead to

A

Intestinal obstruction
Intestinal ischaemia
Bowel perforation

151
Q

Types of volvulus

A

Sigmoid volvulus
Caecal volvulus
Midgut volvulus

152
Q

Which type of volvulus is more common in young patients

A

Caecal

153
Q

Midgut volvulus is often a result of

A

Congenital malrotation of the intestines during embryonic development

154
Q

Symptoms of volvulus

A

Abdominal pain
Abdominal distension
Bilious vomit
Constipation and lack of flatulence

155
Q

Investigations for volvulus

A

X ray

156
Q

Management of volvulus

A

NG tube
IV fluids
Surgery

157
Q

What xray sign may be seen in a sigmoid volvulus

A

Coffee bean sign

158
Q

What is intussusception

A

When a segment of intestine invaginates into neighbouring segment

159
Q

What can intussusception lead to

A

Intestinal obstruction
Intestinal ischaemia
Bowel perforation

160
Q

Intussusception is most commonly seen in

A

Children 3 months - 3 years old

161
Q

Cause of intussusception

A

idiopathic

162
Q

Where does intussusception most commonly occur

A

terminal ileum sliding into colon

163
Q

Symptoms of intussusception

A

Abdominal mass
Abdominal pain in cycle
Distress
Bloody stool
Red currant jelly stool

164
Q

Cause of characteristic pain cycle of intussusception

A

Pain then the baby becomes floppy
This is because intestines squeeze to push food down then it stops (waves of squeezing and relaxing).

165
Q

What is red currant jelly stool

A

stool + blood + mucus

166
Q

Where is the abdominal mass usually located at in intussusception

A

right upper quadrant

167
Q

Investigations for intussusception

A

Ultrasound
Xray
Bloods

168
Q

What signs may be seen in ultrasound in intussusception

A

Target lesion

169
Q

What signs may be seen in xray of intussusception

A

Crescent sign - crescent shaped gas at the apex of intussusceptum
Mass at RUQ

170
Q

Management of intussusception

A

IV fluids
NG tube
Non-operative reduction for stable patients
Surgery for unstable patients

171
Q

What are the methods of non-operative reduction for intussusception

A

Hydrostatic -by saline fluid
Pneumatic - by air

172
Q

Wha is the main differential you should be suspecting when a child is presenting with central abdominal pain

A

Acute appendicits

173
Q

Symptoms of acute appendicitis

A

Central abdominal pain that moves and localises to the right iliac fossa
Vomiting
Anorexia
Mild pyrexia

174
Q

Clinical signs of acute appendicitis

A

Tenderness at McBurney’s point
Positive Rosving’s sign
Painful jumping test
Guarding on abdominal palpitation
Percussion pain and tenderness

175
Q

Where is McBurney’s point located at and why is it significant for acute appendicitis

A

Lower right quadrant, 2/3 distance from umbilicus to ASIS

It is at maximal tenderness in acute appendicits

176
Q

What is a positive Rosving’s sign

A

Pain felt in the right lower quadrant when palpating the left lower side

177
Q

Why is Rosving’s sign positive in acute appendicitis

A

Because pressing on the left side increases pressure in the colon hence in the appendix on the right side

178
Q

Investigations for acute appendicitis

A

Clinical
US if unsure

179
Q

Management for acute appendicitis

A

Laparoscopic appendicectomy
Prophylactic antibiotics

180
Q

What may occur when acute appendicitis burst

A

Peritonitis

181
Q

What is pyloric stenosis

A

Hypertrophy of the pyloric sphincter causing narrowing of the opening from the stomach to small intestine

182
Q

Pyloric stenosis most commonly present at

A

6-8 weeks old

183
Q

Pyloric stenosis is more common in

A

Males

184
Q

Symptoms of pyloric stenosis

A

Projectile vomiting WITHOUT BILE ; vomiting milk
Weight loss
Keen to feed
Palpable smooth olive sized mass
Visible moving lump

185
Q

Where can the olive-sized mass in pyloric stenosis be palpated at

A

At right upper quadrant

186
Q

Where will the moving lump in pyloric stenosis be seen at

A

Upper abdomen
Moving left to right

187
Q

Investigations for pyloric stenosis

A

US

188
Q

Management for pyloric stenosis

A

Should not be fed by mouth (nil by mouth)
IV fluids
Fluid resuscitation in dehydrated babies
Pyloromyotomy

189
Q

Complications of pyloric stenosis

A

Dehydration
Metabolic alkalosis
Due to severe vomiting

190
Q

What is necrotising enterocolitis (NEC)

A

Bowel of premature infants become necrotic and infected which may lead to perforation -> peritonitis, sepsis, death

191
Q

Risk factors for NEC

A

Premature
Low birth weight
Formula feed
Sepsis
Respiratory distress
Poor intestinal perfusion due to CHD

192
Q

When do symptoms of NEC present

A

Within 3 weeks of life

193
Q

Symptoms of NEC

A

Vomiting with green bile
Bloody stools
Abdominal distension
Absent bowel sounds
Intolerance to feed

194
Q

Investigations for NEC

A

Bloods
Xray

195
Q

What will blood tests show in NEC

A

Metabolic acidosis

196
Q

What will X-ray show in NEC

A

Dilated bowel loops
Bowel wall oedema
Gas in bowel wall
Gas in peritoneal cavity due to perforation
Gas in portal vein

197
Q

What is the term for gas in bowel wall

A

Pneumatosis intestinalis

198
Q

What is the term for gas in peritoneal cavity

A

Pneumoperitoneum

199
Q

Management for NEC

A

Nil by mouth
Total parenteral nutrition
Nasogastric tube
Broad spectrum antibiotics
IV fluids
Surgery to resect necrotic tissue

200
Q

What is total parenteral nutrition

A

providing nutrients through a vein to bypass the gastrointestinal tract

201
Q

What is the nasogastric tube used for in NEC

A

To draw gas / fluid out of the intestines

202
Q

What broad spectrum antibiotics are used in NEC

A

Clindamycin
Cefotaxime

203
Q

What may be required if significant bowel tissue has been resected

A

Stoma

204
Q

Main genetic mutation that causes Down syndrome

A

Trisomy 21

205
Q

What other genetic mutations can cause Down syndrome

A

Robertsonian translocation of chromosomes 21 and 14
Trisomy 21 mosaicism

206
Q

What is the robertsonian translocation that causes Down syndrome

A

Long arm of chromosome 21 is joined to the long arm of chromosome 14

207
Q

What is genetic mosaicism

A

Genetic mutation that occurs during foetal development stage when cells are still dividing, causing all other cells to have the mutation due to mitosis

208
Q

Risk factor for Down syndrome

A

High maternal age - after 35 years old

209
Q

What are the clinical features of Down syndrome

A

Distinct facial features (large tongue / brachycephaly / epicanthal folds)
Joint hyperflexibility
Intellectual disability
Short stature
Early onset dementia
CHD

210
Q

What are the facial features seen in Down syndrome

A

Large tongue
Flat nose bridge
Epicanthal folds
Brachycephaly
Short neck
Small ears

211
Q

Down syndrome increases the risk of

A

CHD - AVSD
Coeliac
Apnoea
Cataracts
Early onset dementia
Hypothyroidism
Hearing loss
Immunodeficiency
Polycythaemia
Leukaemia

212
Q

What is the most common CHD presented in children with Down syndrome

A

AVSD (atrioventricular septal defect)

213
Q

What is polycythaemia

A

Increased RBC causing the cell to become thicker

214
Q

Prenatal screening for Down syndrome is offered to parents. What is required for a prenatal diagnosis of Down syndrome

A

Amniocentesis
Chorionic villus sampling

215
Q

What is Duchenne’s muscular dystrophy

A

A type of congenital muscular dystrophy caused by mutation in dystrophin gene

216
Q

Function of dystrophin

A

Dystrophin is a protein required to stabilise the sarcolemma (cell membrane of muscle cells)

217
Q

What happens if there is a mutation in dystrophin gene

A

weak sarcolemma -> creatine kinase escapes from muscle cells -> cell death -> muscle degeneration -> progressive weakness

218
Q

Function of creatine kinase

A

Required to help muscle cells to produce energy

219
Q

When do symptoms occur for Duchenne’s Muscular dystrophy

A

By 5 years old
Muscular weakness begins at 2-3 years old

220
Q

Signs and symptoms of Duchenne’s Muscular Dystrophy

A

Late gross motor development
Waddling gait
Gower’s sign
Calf pseudohypertrophy
Progressively decreasing mobility
Cardiomyopathy

221
Q

Creatine kinase is mostly found in

A

Skeletal muscle cells
Cardiomyocytes

222
Q

What is Gower’s sign

A

when the patient has to walk hands up the thighs to stand up

223
Q

What is calf pseudohypertrophy

A

Enlargement of the calf (false enlargement) due to abnormal muscle tissue

224
Q

Investigations for Duchenne’s muscular dystrophy

A

Serum CK
DNA test
Muscle biopsy using dystrophin stain

225
Q

Management of Duchenne’s Muscular Dystrophy

A

Steroids to slow muscle degeneration
Physical therapy

226
Q

What is cerebral palsy

A

Impaired motor and postural functions due to cerebral lesions

227
Q

Risk factors for cerebral palsy

A

Genetic
Prematurity
Intrauterine growth restriction
Antepartum haemorrhage
Infections
CNS injury before / after birth
Sepsis
Meningitis
Alcohol during pregnancy
HIE
Placental pathology
Near Drowning

228
Q

What is cerebral palsy associated with

A

Epilepsy
Mental function impairment

229
Q

Main characteristics of cerebral palsy (PALSY)

A

Paresis
Ataxia
Lagged motor development
Spasticity
Young

230
Q

What is ataxia

A

Poor muscle control causing clumsy voluntary movements

231
Q

Signs and symptoms of CP

A

Paresis
Ataxia
Difficult feeding / swallowing
Scoliosis
irregular posture
Spasticity
Seizure
Sleep disturbances

232
Q

CP increases the risk of

A

Orthopaedic issues such as scoliosis
Chest infections
Osteomalacia

233
Q

Types of CP

A
  1. Spastic
  2. Ataxia
  3. Anthetoid
  4. Mixed
234
Q

Describe the muscle tone of spastic CP

A

Hypertonia

235
Q

Describe the muscle tone of ataxic CP

A

Hypotonia

236
Q

Example of a Spastic CP

A

Spastic diplegia

237
Q

Which limbs do spastic diplegia mainly affect

A

Motor function of lower limbs; spastic diplegia is associated with milder cerebral lesions due to only affecting the lower limbs

238
Q

What is athetosis

A

Slow movement of limbs

239
Q

Management of CP

A

Physical and speech therapy
Posture correction (surgical / non-surgical)
Spasmolytics
Anti-convulsants

240
Q

When should the vaccine for rotavirus be offered to children

A

when they are 8 or 12 weeks old

241
Q

When should the vaccine for MMR be offered to children

A

12- 13 months old (after the age of 1)

242
Q

When should HPV vaccine be offered

A

11 - 13 years old girls

243
Q

When do babies become anxious around strangers

A

9 months

244
Q

When do babies become able to sit up well without help

A

9 months

245
Q

When do babies start responding to their own names

A

12 months

246
Q

When do babies start walking

A

12-18 months

247
Q

When do babies start rolling from stomach to back

A

6 months

248
Q

When do babies start crawling

A

9 months

249
Q

When can children start pedalling tricycles

A

3 years old

250
Q

When do babies learn how to speak 5-20 words and point to body parts

A

18 months

251
Q

When do children start joining 2 words and know 50+ words

A

2 years old

252
Q

When do babies start understanding sharing and playing with others

A

3 years old