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Phase 3A > Paediatrics 1 > Flashcards

Paediatrics 1 Flashcards

1
Q

What is pneumonia?

A

an acute lower respiratory tract infection resulting in inflammation of the lung tissue and sputum filling the airways and alveoli

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2
Q

What are the 3 most likely bacterial causes of pneumonia in neonates?

A

organisms from the maternal genital tract e.g.
- group B streptococcus
- bacilli
- gram -ve enterococci

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3
Q

What are the 3 most common causes of pneumonia in children older than 5?

A

strep pneumoniae
mycoplasma
chlamydia

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4
Q

What is the overall most likely cause of bacterial pneumonia?

A

strep pneumoniae

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5
Q

What are the key symptoms of pneumonia? x4

A

fever
cough
chest pain
lethargy

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6
Q

What are the key signs of pneumonia in children ? x5

A

tachypnoea
nasal flaring and recession
decreased breath sounds
bronchial breathing
focal course crackles on auscultation

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7
Q

How is pneumonia diagnosed in children?

A

usually clinical
CXR
sputum sample

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8
Q

What is the 1st line treatment for bacterial pneumonia in children?

A

amoxicillin

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9
Q

What is the treatment for mycoplasma or chlamydia pneumonia?

A

macrolide antibiotics e.g. erythromycin

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10
Q

What is croup?

A

Infection of the upper airway seen in infants and toddler, known as laryngotracheobronchitis

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11
Q

What is the most common cause of croup?

A

Parainfluenza viruses

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12
Q

What are the key symptoms of croup? x4

A

Inspiratory stridor and hoarseness (due to inflammation of the vocal cords)
Barking cough (worse at night) (due to tracheal oedema and collapse)
High fever
Cold symptoms

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13
Q

What is Hoover’s sign?

A

When the chest wall recesses in croup

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14
Q

How is croup differentiated from epiglottitis?

A

similar presentations but epiglottitis is much more rapid onset of acute illness, with very high temperature, no cough, drooling and soft, whispering stridor

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15
Q

What is the management for croup? (mild vs moderate/severe)

A

Mild - give oral dexamethasone (0/15mg/kg) and symptoms usually resolve within 28 hours

Moderate/severe - admit to hospital and give O2 + nebulised adrenaline

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16
Q

What are the signs of severe croup? x5

A

frequent cough
stridor is prominent at rest (mild disease has no cough at rest)
marked sternal recession (hoover’s)
significant distress and agitation
lethargy and restlessness

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17
Q

What is acute epiglottitis?

A

Inflammation of the epiglottis and surrounding tissues associated with septicaemia
It is a life-threatening emergency due to the high risk of respiratory obstruction

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18
Q

What causes acute epiglottitis?

A

haemophilus influenzae type b (Hib)

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19
Q

In what age group is acute epiglottitis most commonly seen?

A

children aged 1-6

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20
Q

What are the key symptoms of acute epiglottitis? x3

A

High fever in a very ill, toxic-looking child
Intensely painful throat which prevents the child from speaking or swallowing - saliva drools down from the chin
Soft inspiratory stridor

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21
Q

What are the key signs of acute epiglottitis? (specific position)

A

Rapidly increasing respiratory difficulty over hours
Child sitting upright and immobile with an open mouth to optimise the airway (tripoding)

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22
Q

How is acute epiglottitis diagnosed?

A

usually symptom-based diagnosis plus throat examination

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23
Q

how is acute epiglottitis managed?

A

Urgent hospital admission and treatment is needed
Secure airway with tube + fluids + antibiotics (e.g. cefuroxime) + give oxygen
Rifampicin is given prophylactically to other household occupants/close contacts

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24
Q

What is tripod position in relation to acute epiglottitis?

A

a sign of respiratory distress characterised by the child leaning forward, mouth open and tongue out

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25
Q

What is the difference between wheeze and stridor?

A

wheeze is an polyphonic (more than one sound) noise heard on expiration
stridor is an monophonic high-pitched inspiratory noise

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26
Q

What pathology is characteristic of asthma?

A

reversible airway obstruction
airway hyperresponsiveness
inflamed bronchioles
mucus hypersecretion

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27
Q

When are symptoms usually worse in asthmatics?

A

at night and early in the morning due to narrowing of the airways during sleep as a result of changing hormone levels (e.g. cortisol, epinephrine + melatonin)

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28
Q

What are the treatments for acute asthma? (moderate, acute severe/life-threatening)

A

moderate - give salbutamol
acute severe/life-threatening - requires hospital admission, 1st line: salbutamol nebulised with O2 + oral prednisolone, 2nd line: IV salbutamol and aminophylline

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29
Q

What is the management for chronic asthma in children aged 5-16?

A

start with SABA for symptoms relief
step wise approach if symptoms >3 times per week
1: SABA + low does ICS
2: SABA + low dose ICS leukotriene receptor antagonist
3: SABA + paediatric low-dose ICS + LABA
specialist care referral if still not improving

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30
Q

What are the features of a moderate acute asthma attack? x5

A

SpO2 >92%
PEF >33%
HR <140bpm
RR <40/min
Able to talk

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31
Q

What are the features of an acute severe asthma attack? x6

A

SpO2 <92%
PEF <33-50% predicted
HR >140 bpm (1-5 yrs)
HR >125 bpm (5+ years)
RR >40/min (1-5 yrs)
RR >30/min (5+ yrs)
Can’t complete sentences in 1 breath
Use of accessory neck muscles

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32
Q

What are the features of a life-threatening asthma attack? x6

A

SpO2 <92% with one of:
PEF <33%
Cyanosis
Confusion
Silent chest
Hypotension

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33
Q

What pCO2 value indicates a life-threatening asthma attack?

A

a normal pCO2 of 4.8-6 kPa
this indicates reduced respiratory effort in asthma because initially there is compensation and hyperventilation causing the pCO2 to decrease but when further air trapping leads to decreased lung compliance and increased work of breathing, the pCO2 will begin to increase.

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34
Q

What is virally induced wheeze?

A

episodic wheeze resulting from small airways being more susceptible to narrowing and obstruction due to inflammation and aberrant immune responses to viral infection

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35
Q

What are the risk factors for virally induced wheeze?

A

maternal smoking during +/or after pregnancy
premature birth
FH of early wheezing
males
increased viral exposure during childhood

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36
Q

What are the key symptoms of virally induced wheeze? x6

A

URTI symptoms - cough, coryza, blocked/runny nose, sneezing, sore throat
fever
lethargy and fatigue
poor feeding
wheezing sound
difficulty breathing/chest tightness

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37
Q

what are the signs of virally induced wheeze? x6

A

tachypnoea
hypoxia
wheezing
prolonged expiratory phase
reduced air entry
accessory muscle use/retractions

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38
Q

What are the some of the most common differentials for virally induced wheeze? x3

A

asthma
anaphylaxis
foreign body aspiration

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39
Q

How is virally induced wheeze treated?

A

same as acute asthma treatment - severity dependent

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40
Q

What is bronchiolitis?

A

Lower respiratory tract infection which leads to the blockage of small airways in the lungs

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41
Q

What are some of the causes of bronchiolitis? x 2 main +others

A

Respiratory syncytial virus is the most common cause
Rhinovirus (2nd most common cause)
Other causes: adenovirus, parainfluenza virus, influenza virus and human metapneumovirus
Coinfection with more than one virus can lead to a more severe illness

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42
Q

What are 3 risk factors for bronchiolitis?

A

premature birth
bronchopulmonary dysplasia
underlying disease e.g. CF

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43
Q

What are the key symptoms of bronchiolitis? x3

A

dry wheezy cough
poor feeding
increasing breathlessness
(serious complication = recurrent apnoea)

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44
Q

What are the signs of bronchiolitis? x5

A

Tachypnoea and tachycardia
Subcostal and intercostal recession
Hyperinflation of the chest
Fine end-inspiratory crackles
High pitched wheezes - expiratory > inspiratory

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45
Q

What features in bronchiolitis require immediate hospital assessment?

A

apnoea

serious unwell-looking child

severe respiratory distress e.g. grunting, marked chest recession, or a resp rate over 70 breaths/minute

central cyanosis

persistent O2 saturation <92% when breathing air

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46
Q

What is the management for bronchiolitis?

A

supportive
humidified O2 via nasal cannulae/head box
apnoea monitoring
IV fluids if needed

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47
Q

What is cystic fibrosis?

A

an inherited autosomal recessive condition affecting mucus glands due to delta F508 mutation in the CFTR gene on chromosome 7

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48
Q

What is the pathophysiology in CF?

A
  • the defective CFTR gene codes for cyclic AMP-dependent chloride channels
  • the mutation causes poor chloride secretion across the epithelium leading to production of very thick, sticky mucus which clogs airways/tracts resulting in multiple system involvement
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49
Q

What is the key symptom/complication of CF in neonates?

A

meconium ileus (bowel obstruction which occurs when the first faeces are even thicker and stickier than normal meconium)

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50
Q

What are the key symptoms of CF in infants? x4

A

→ failure to thrive + steatorrhoea (fatty faeces)
→ short stature
→ recurrent chest infections due to S/ aureus + pseudomonas aeruginosa
→ prolonged neonatal jaundice

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51
Q

What are the main pathogens which can cause lung infections in CF patients? x3

A

s. aureus
h. influenzae
pseudomonas aeruginosa

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52
Q

What are the key symptoms of CF in young children? x4

A

→ bronchiectasis
→ rectal prolapse
→ nasal polyp
→ sinusitis

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53
Q

How is CF usually diagnosed in children?

A

usually detected during new-born screening programmes
sweat test (measures Cl- in sweat which is elevated in CF)

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54
Q

What is the management for CF in children?

A

interdisciplinary approach to manage symptoms as no definitive cure

Respiratory: TWICE DAILY chest physio, multiple courses of antibiotics for recurrent infections

GI: pancreatic enzyme replacement, liver transplant and high calorie/fat diet
orkambi

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55
Q

What is the new treatment for CF and how do the 2 types work?

A

Orkambi which can be used in patients who are homozygous with the delta F508 mutation

Lumacaftor –> increases the number of CFTR proteins which are transported to the cell surface
Ivacaftor –> potentiates opening of the CFTR channel at surface to promote less viscous mucus

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56
Q

What is acute otitis media?

A

inflammation of the middle ear of fewer than 3 weeks duration and is usually secondary to a bacterial infection spreading from the upper respiratory tract via the eustachian tube

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57
Q

What are some of the risk factors for acute otitis media? x8

A

young age (peak incidence is in the 1st year of life)
male
daycare or nursery attendance
lack of breast feeding
exposure to tobacco smoke and air pollution
congenital craniofacial abnormalities including trisomy 21 and cleft palate
immunocompromised children

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58
Q

What are the key symptoms of acute otitis media? x6

A

recent onset ear pain - can present as ear pulling or irritability in nonverbal children
fever
anorexia/poor feeding
vomiting/diarrhoea
lethargy
aural fullness

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59
Q

What are the otoscopy findings in acute otitis media?

A

Red, bulging and tender tympanic membrane
Mucopurulent discharge in acute suppurative otitis media

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60
Q

What is the management for acute otitis media?

A

AOM is self-limiting usually lasting 3-7 days and often doesn’t require treatment

In children who are unwell or at high risk of complications immediate antibiotics (1st line amoxicillin, 2nd line co-amoxiclav) and consideration of hospital admission is needed

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61
Q

What are some of the potential complications of AOM? x7

A

acute mastoiditis
sensorineural + conductive hearing loss
cholesteatoma
facial nerve palsy
bacterial meningitis
neck and intracranial abscesses
sigmoid sinus thrombosis

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62
Q

What is acute mastoiditis?

A

a rare complication of AOM where continued inflammation of the mucosa of the middle ear leads to a mastoid abscess

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63
Q

What are the key symptoms of acute mastoiditis?

A

mastoid pain and tenderness
fluctuant erythematous retro-auricular swelling
auricle proptosis (abnormal protrusion of the pinna)

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64
Q

What is glue ear?

A

also known as otitis media with effusion (OTE), when the middle ear becomes full of fluid, causing hearing loss in that ear

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65
Q

What is seen on otoscopy in glue ear/OTE?

A

dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal

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66
Q

What are grommets?

A

tiny tubes inserted into the tympanic membrane which allow fluid from the middle ear to drain through the tympanic membrane to the ear canal

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67
Q

What is the function of grommets?

A

to keep the middle ear aerated and prevent the accumulation of fluid in the middle ear

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68
Q

How long do grommets usually last?

A

grommets usually fall out within a year following insertion

only 1/3 of patients require further grommets to be inserted for persistent glue ear

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69
Q

What are the indications for grommets? x3

A

recurrent AOM
chronic otitis media + effusion
eustachian tube dysfunction

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70
Q

What is sensorineural hearing loss?

A

deafness caused by damage to the inner ear cochlear and 8th cranial nerve
usually present at birth

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71
Q

How is sensorineural hearing loss treated? x2

A

hearing aids
cochlear implants

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72
Q

What is conductive hearing loss?

A

deafness caused by impediment of the sound waves travelling from the outer ear/ear drum or across the ear ossicles
most often result of otitis media with effusion

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73
Q

What are the management options for conductive hearing loss? x4

A

grommets
bone conduction hearing aids
surgical bone anchored hearing aid
middle ear implants

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74
Q

What are some causes of conductive hearing loss?

A
  1. Glue ear
  2. Ear wax
  3. Otitis media
  4. Perforated ear drum
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75
Q

What is squint/strabismus?

A

any misalignment of the eyes resulting in the retinal image being in non-corresponding areas of both eyes

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76
Q

What is are the 2 main types of squint and what causes them?

A

concomitant (non-paralytic) squints are usually congenital and due to differences in the control of the extra-ocular muscles - severity varies

inconmitant (paralytic) squint is usually acquired through damage to the extraocular muscles of their nerves (much rarer)

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77
Q

What are the key presentations of concomitant squints in children?

A

intermittent closure of one eye
reduction of motor skills (in amblyonic children)
compensatory head tilt/chin lift
refractive error
media opacities like cataracts
retinal abnormalities e.g. retinoblastoma

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78
Q

What are the key presentations of paralytic squint?

A

diplopia
other presentations very depending on cause

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79
Q

What are the 3 screening tests needed to detect strabismus?

A

gross inspection
light reflex tests, including the bruckner test (inspection for a red reflex)
cover tests

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80
Q

What is the management for strabismus?

A

dependent on cause
- correction of refractive errors
- eye patching/cycloplegic drops
- prisms on glasses lens
- surgical alignment
- eye exercises
- miotic agents
- chemodenervation

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81
Q

What is the most common congenital heart defect?

A

Ventricular septal defect

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82
Q

What causes symptomatic presentation in VSD?

A

Most patients with VSD experience symptoms primarily because of the increased flow of blood through the pulmonary circulation.
Since the pressure in the left ventricle is greater than in the right ventricle, the majority of VSDs will be shunting left to right

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83
Q

What are the features of the acyanotic septal cardiac defects?

A
  • left to right shunting, mixing of oxygenated blood with deoxygenated blood
  • increased pulmonary blood flow –> risk of pulmonary hypertension and untreated acyanotic heart disease can lead to Eisenmenger syndrome
  • lesions that are above the level of the nipple usually give rise to ejection systolic murmurs while lesions below the level of the nipple typically cause pan systolic murmurs
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84
Q

What are the haemodynamic consequences of VSD according to size?

A

Very small VSD - minimal flow of blood –> no significant increase in pulmonary blood flow, mostly asymptomatic
Moderate-sized VSD - flow of blood through the VSD is great enough to cause a significant increase in blood flow through the pulmonary circulation resulting in the left side of the heart receiving a greater volume of blood → dilatation of the L atrium and ventricle
Large VSDs - significant amount of blood flow through VSD → early heart failure and severe pulmonary hypertension, symptoms of cardiac failure are evident after the 1st weeks of life

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85
Q

What are the risk factors for VSD? x6

A

Maternal diabetes mellitus
Maternal rubella infection
Alcohol (FAS)
Family history of VSD
Congenital conditions such as Down’s syndrome, trisomy 18 syndrome, Holt-Oram syndrome
Some medications (weak evidence)

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86
Q

What are the key symptoms of the different sizes of VSD?

A

Small VSD = mild-no symptoms, systolic murmur is sometimes detected
Moderate VSD - excessive sweating, easily fatigable, tachypnoea,
Large VSD - similar symptoms to CHF: SOB, difficulty feeding, developmental issues, frequent chest infections

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87
Q

What are the differentials for VSD? x6

A

Mitral regurgitation
Tricuspid regurgitation
Atrial septal defect
Patent ductus arteriosus
Pulmonary stenosis
Tetralogy of Fallot

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88
Q

What is the management for VSD?

A

Small does not require treatment

Medical management - increased caloric intake, diuretics, ACE inhibitors, Digoxin

Surgical - medium to large defects causing significant symptoms may need surgery to close the defect - procedures include:

Surgical repair (open heart surgery under cardiopulmonary bypass)
Catheter procedure (uses a mesh device to close the hole)
Hybrid approach (small access through left ventricle for mesh closing device)

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89
Q

What is Eisenmenger’s syndrome?

A

where the pressure in R ventricle exceeds that of the L ventricle as a result of a significant gradual increase in the pulmonary vascular resistance → shunt reversal which causes decreased systemic O2 sats and cyanosis

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90
Q

What is the most common type of atrial septal defect?

A

patent foramen ovale

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91
Q

What are the risk factors for ASD? x6

A

Autosomal dominant inheritance
Family history of ASD
Maternal smoking in 1st trimester
Maternal diabetes
Maternal rubella
Maternal drug use (e.g. cocaine + alcohol)

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92
Q

What are the signs of a large ASD? x3

A

Tachypnoea
Poor weight gain
Recurrent chest infections

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93
Q

What are the signs of ASD on auscultation? x3

A

Soft ejection systolic murmur, best heard over pulmonary valve region
Wide, fixed split S2
Diastolic rumble in lower left sternal edge in pts with large ASD

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94
Q

What is the management for ASD?

A

If ASD <5mm, spontaneous closure should occur within 12 months of birth

Diuretics may be needed in children with heart failure

Surgical closure is the definitive management usually in patients with ASD>1cm
- Can be carried out percutaneously or open chest using cardiopulmonary bypass

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95
Q

What is the gold standard investigation for septal defects

A

transthoracic echocardiogram

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96
Q

What is the definition of heart failure?

A

A syndrome characterised by either or both pulmonary and systemic venous congestion and/or inadequate peripheral oxygen delivery, at rest or during stress, caused by cardiac dysfunction

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97
Q

What are the causes of heart failure in neonates? x3

A

Primarily caused by obstructed systemic circulation:

Hypoplastic left heart syndrome (left heart never fully developed)
Critical aortic valve stenosis
Severe coarctation of the aorta (severe narrowing)
Interruption of the aortic arch

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98
Q

What are the causes of heart failure in infants? x3

A

usually result of high pulmonary blood flow:

Ventricular septal defect
Atrioventricular septal defect
Large persistent ductus arteriosus

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99
Q

What are the causes of heart failure in older children/adolescents? x3

A

Eisenmenger syndrome (RHF only)
Rheumatic heart disease
Cardiomyopathy

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100
Q

What are the key symptoms of heart failure? x4

A

Breathlessness
sweating
Poor feeding
Recurrent chest infections

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101
Q

What are some signs of heart failure? x7

A

Poor weight gain and faltering growth
Tachypnoea
Tachycardia
Heart murmur, gallop rhythm
Enlarged heart
Hepatomegaly
Cool peripheries

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102
Q

What are the investigations for heart failure?

A

1st line: CXR, ECG
GS: Cardiac MRI
Blood biomarkers e.g. BNP

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103
Q

What are the 6T’s for the differential diagnoses of cyanotic lesiosn?

A

Tetralogy of Fallot
Transposition of great arteries
Truncus arteriosus
Total anomalous pulmonary venous connection
Tricuspid valve abnormalities
Ton of others - hypoplastic left heart, double outlet right ventricle, pulmonary atresia

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104
Q

What is the nitrogen washout/hyperoxia test?

A

test used to differentiate cardiac from non-cardiac causes of cyanosis

when an infant is given 100% oxygen for 10 mins after which an ABG is taken

a pO2 of less than 15kPa indicates cyanotic congenital heart disease

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105
Q

What is the initial management for suspected cyanotic congenital heart disease?

A

supportive care
prostaglandin E1 e.g. alprostadil (used to maintain a patent ductus arteriosus)

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106
Q

What are the characteristic defects in Tetralogy of Fallot?

A

Ventricular septal defect
Pulmonary stenosis
Overriding aorta
Right ventricular hypertrophy

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107
Q

What are 4 conditions associated with TOF?

A

Down’s syndrome (40% have form of CHD)
DiGeorge syndrome
CHARGE syndrome
VACTERL association

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108
Q

How does TOF causes symptoms?

A
  • The VSD allows blood to flow between the ventricles.
  • Due to the overriding aorta (where the aortic valve is abnormally far right, above the VSD), when the right ventricle contracts and sends blood upwards the aorta is in the direction of travel of that blood therefore a greater proportion of deoxygenated blood enters the aorta from the right side of the heart.
  • Stenosis of the pulmonary valve provides greater resistance against the flow of blood from the RV which encourages blood to flow through the VSD and into the aorta rather than taking the normal route into the pulmonary vessels
  • Therefore the overriding aorta and pulmonary stenosis encourage blood to be shunted from the right heart to the left, causing cyanosis
  • The increased strain on the right ventricle causes right ventricular hypertrophy, with thickening of the heart muscle
  • These cardiac abnormalities cause a right to left cardiac shunt which means blood bypasses the child’s lungs and is not oxygenated as normal
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109
Q

What are some of the risk factors for TOF? x8

A

1st degree family history of Chd
Parent with TOF
Parent with DiGeorge syndrome
Foetal exposure to teratogens in utero (e.g. alcohol, warfarin and trimethadione)
Poorly controlled maternal diabetes
Maternal intake of retinoic acid
Congenital rubella infection
Increased maternal age (40+ years old)

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110
Q

What are the 3 major clinical subtypes of TOF?

A

TOF with mild pulmonary stenosis
(cyanosis usually develops around 1-3 years old)

TOF with pulmonary atresia
(presents with cyanosis and resp distress within first few weeks of life)

TOF with an absent pulmonary valve
(most severe –> cyanosis and respiratory distress within the first few hours of life)

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111
Q

What are the signs of TOF? x4

A

central cyanosis
clubbing
respiratory distress
signs on auscultation: thrill, heave, ejection systolic murmur in pulmonary area…

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112
Q

What are the investigations for TOF?

A

1st line: antenatal screening, clinical examination
GS: foetal echocardiogram
other: pulse oximetry, ECG, genetic testing, CXR

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113
Q

What is the management for TOF?

A

surgical intervention usually within the first year of life
some patients receive a bridging procedure before complete repair of the TOF
in some infants, a prostaglandin infusion is given to maintain a patent ductus arteriosus so that blood flow to the pulmonary circulation is maintained

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114
Q

What is a ‘tet’ spell?

A

a complication of an unrepaired TOF where there is sudden episode of profound cyanosis and hypoxia - can be fatal

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115
Q

What are the potential causes of ‘tet’ spells? x5

A

Decrease in O2 sats (e.g. crying, emotional/physical distress)
Decrease in systemic vascular resistance (e.g. while playing)
Increase in pulmonary vascular resistance
Tachycardia
Hypovolemia

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116
Q

What is the management for ‘tet’ spells?

A

1 - position the child with their knees at their chest
2 - give oxygen
3 - morphine to decrease resp drive
4 - IV fluids - increase pre-load and so increase volume of blood which flows into the pulmonary vessels
5 - BB’s - relaxes the R ventricle infundibulum and improves the flow of blood to the pulmonary vessels
6 - Phenylephrine infusion - increases systemic vascular resistance
7 - emergency ventricular outflow tract stent or BT shunt
8 - sodium bicarb if there is metabolic acidosis

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117
Q

What is rheumatic fever?

A

A systemic inflammatory disorder which arises as a complication following group A strep infection

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118
Q

What are the risk factors for rheumatic fever? x8

A

age (5-15 yr olds)
female
ethnicity - higher prevalence in indigenous populations in Australia and NZ
genetic susceptibility
prior or untreated infection with group A strep
low socioeconomic status
overcrowding and poor housing

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119
Q

What are the Jones criteria for RF diagnosis?

A

In order to establish a diagnosis of RF, there must be:
Evidence of recent group A strep infection
Positive throat swab
Positive rapid strep antigen test
Raised strep antibody titre
Recent episode of scarlet fever
Plus either:
2 major criteria
Or 1 major criterion and 2 minor criteria

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120
Q

What are the major Jones criteria for RF diagnosis?x5

A

Polyarthritis
Carditis (50% of patients) - could be pancarditis, endocarditis, myocarditis, pericarditis
Sydenham’s chorea (10% of patients)
Erythema marginatum
Subcutaneous nodules

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121
Q

What are the minor Jones criteria for RF diagnosis?

A

polyarthralgia
prolonged PR interval on ECG
Hx of RF
Fever
Raised inflamm markers

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122
Q

What are the differentials for rheumatic fever? x4 symptoms specific

A

Joints symptoms (reactive arthritis, juvenile idiopathic arthritis, HSP)
Cardiac disease (cardiomyopathy, Kawasaki disease, IE)
Chorea (Wilson’s disease, adverse drug reactions)
Skin changes (adverse drug reactions, lyme disease/erythema migrans, erythema multiforme)

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123
Q

What is the recommended management for rheumatic fever?

A

Bed rest is 1st line treatment even if patient feels well until CRP has returned to normal

If suspected active myocarditis limitation of exercise is strongly advised

Medical management:
Stat dose of IV benzylpenicillin followed by oral penicillin V for at least 10 days
High dose aspirin to limit inflam response
Acute heart failure requires combination of ACEi’s and diuretics

Prophylaxis:
After the initial attack the child should be followed up regularly and prophylactic treatment started to reduce the chance of any future attacks

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124
Q

What is the triad of features which indicate infective endocarditis

A

endothelial damage
platelet adhesion
microbial adherence

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125
Q

What are the main causative organisms for infective endocarditis? x3

A

staph aureus
strep viridans
strep pneumoniae

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126
Q

What are the key symptoms of infective endocarditis? x4

A

Persistent low-grade fever without clear cause
Heart murmur
Splenomegaly
Can also present in a non-acute or subacute form with non-specific symptoms like fatigue, malaise, weight loss, myalgia or even asymptomatic

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127
Q

What are the skin/nail changes indicative of infective endocarditis?

A

Petechiae
Osler’s nodes
Janeway lesions
Splinter haemorrhages

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128
Q

What is the gold standard test for IE?

A

echocardiogram

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129
Q

What is supraventricular tachycardia?

A

a rapid heart rate of between 250-300bpm caused by premature activation of the atrium via an accessory pathway resulting in a circuit of conduction

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130
Q

What is the management for supraventricular tachycardia?

A

sinus rhythm is restored by:
- Circulatory and respiratory support
- Vagal stimulation manoeuvres
- Intravenous adenosine (treatment of choice)
- Electrical cardioversion

following this maintenance therapy is required with flecainide or sotalol

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131
Q

What is the treatment for congenital complete heart block?

A

all children with symptoms require insertion of an endocardial pacemaker

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132
Q

What is the usual cause of congenital complete heart block?

A

usually related to the presence of anti-Ro or anti-La antibodies in the maternal serum
- this antibody appears to prevent normal development of the electrical conduction system in the developing heart, with atrophy and fibrosis of the AV node
- the mother will either have manifest or latent connective tissue disorders

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133
Q

What are the major complications of congenital complete heart block>

A

foetal hydrops
death in utero
neonatal heart failure

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134
Q

What is long QT syndrome?

A

a channelopathy caused by autosomal dominant gene mutations which results in abnormalities of the sodium, potassium, or calcium channels leading to a gain or loss of function

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135
Q

What are the risk factors for long QT syndrome? x3

A

erythromycin therapy, electrolyte disorders and head injury

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136
Q

What symptoms are associated with long QT syndrome?

A

sudden loss of consciousness during exercise, stress or emotion

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137
Q

What are the 3 fetal shunts? what structures do they connect/bypass?

A

ductus venosus - connects the umbilical vein to the IVC so that blood bypasses the liver

foramen ovale - connects the right atrium with the left atrium allowing blood to bypass the right ventricle and pulmonary circulation

ductus arteriosus - connects the pulmonary artery with the aorta so blood bypasses the pulmonary circulation

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138
Q

What changes occur in the foetal circulation at birth?

A
  1. At the first breath the alveoli expand decreasing the pulmonary vascular resistance
    - this causes a fall in pressure in the right atrium so that the left atrial pressure > the right atrial pressure
    - this squashes the atrial septum causing CLOSURE OF THE FORAMEN OVALE which becomes the fossa ovalis
  2. Prostaglandins are required to keep the ductus arteriosus open.
    - increased blood oxygenation causes a drop in circulating prostaglandins which causes CLOSURE OF THE DUCTUS ARTERIOSUS which becomes the ligamentum arteriosum
  3. Immediately after birth the ductus venosus stops functioning because the umbilical cord is clamped and there is no flow in the umbilical veins
    - the DUCTUS VENOSUM structurally CLOSES a few days later and becomes the ligamentum venosum
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139
Q

What are innocent murmurs?

A

very common in children
caused by fast blood flow through various areas of the heart during systole

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140
Q

What are the typical features of innocent murmurs? 5 S’s

A

Soft
Short
Systolic
Symptomless
Situation dependent

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141
Q

What are some common differentials for diarrhoea? x8

A

gastroenteritis
IBD
lactose intolerance
coeliac disease
cystic fibrosis
toddler’s diarrhoea
IBS
medications (e.g. antibiotics)

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142
Q

What does a patent ductus arteriosus sound like?

A

machinery murmur at the upper left sternal edge

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143
Q

What are some causes of chronic diarrhoea in infants? x4

A

most common: cow’s milk intolerance
toddler’s diarrhoea
coeliac disease
post-gastroenteritis lactose intolerance

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144
Q

What are the differentials of pan-systolic murmurs? x3

A

mitral regurgitation (heard at the 5th intercostal space, mid-clavicular line)

tricuspid regurgitation (heard at the 5th intercostal space, left sternal border)

ventricular septal defect (heard at the left lower sternal border)

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145
Q

What are the differentials of ejection-systolic murmurs? x3

A

aortic stenosis (heard at the 2nd intercostal space, right sternal border)

pulmonary stenosis (heard at the 2nd intercostal space, left sternal border)

hypertrophic obstructive cardiomyopathy (heard at the 4th intercostal space on the left sternal border)

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146
Q

What causes splitting of the 2nd heart sound?

A

a delay between the aortic and pulmonary valves closing - this occurs normally with inspiration in children as the chest wall and diaphragm pull the heart and lungs open and cause the right side of the heart to fill faster as it pulls in blood from the venous system
- the increased volume in the right ventricle causes it to take longer for the right ventricle to empty during systole, causing a delay in the pulmonary valve closing

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147
Q

What murmur is caused by an atrial septal defect?

A

mid-systolic crescendo-decrescendo murmur which is loudest at the upper left sternal border with a fixed split second heart sound

148
Q

What murmur is caused by a patent ductus arteriosus?

A

small PDAs may not cause any abnormal heart sounds
more significant PDAs cause a normal 1st heart sound with a continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound

149
Q

What murmur is heart in tetralogy of Fallot ?

A

ejection systolic murmur due to pulmonary stenosis

150
Q

What is GORD?

A

Gastro-oesophageal reflux disease where there is involuntary passage of gastric contents into the oesophagus which is non-self-limiting

151
Q

What is the usual cause of GORD?

A

inappropriate relaxation of the lower oesophageal sphincter as a result of functional immaturity

it is common within the first year of life but almost all symptomatic reflux resolves spontaneously by 12 months of age

this is most likely due to a combination of maturation of the lower oesophageal sphincter, assumption of an upright posture and more solids in the diet.

152
Q

What are some risk factors for GORD? x4

A

cerebral palsy
neurodevelopmental disorders
preterm infants, especially those with bronchopulmonary dysplasia
surgery for oesophageal atresia or diaphragmatic hernia

153
Q

What are some key symptoms of GORD? x6

A

Recurrent regurgitation and vomiting
Oesophagitis
Recurrent pulmonary aspiration
Apparent life-threatening events
Chronic cough
Hoarse cry

154
Q

What are some signs of GORD in children? x4

A

poor weight gain
distress, crying or unsettled after feeding
faltering growth from severe vomiting
dystonic neck posturing (Sandifer’s syndrome)

155
Q

What is the management for GORD?

A

Feed thickening
Acid suppression with either hydrogen receptor antagonists (e.g. ranitidine) or PPIs (omeprazole)
Surgical management is reserved for children complications unresponsive to intensive medical treatment for esophageal stricture (Nissen fundoplication = fundus of the stomach is wrapped around the intra-abdominal oesophagus)

156
Q

What is pyloric stenosis?

A

hypertrophy and consequent narrowing of the gastric pylorus

157
Q

What is the pathophysiology of pyloric stenosis?

A

The muscles of the gastric pylorus are abnormally thickened causing narrowing and prevention of food travelling from the stomach to the duodenum as normal.

after feeding there is increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum. Eventually it becomes so powerful that it ejects the food into the oesophagus and out of the mouth i.e. projectile vomiting.

158
Q

What are the key symptoms of pyloris stenosis? x3

A

Projectile, non-bilious vomiting
Increased hunger
Thin, pale and generally failing to thrive

159
Q

What are the signs of pyloric stenosis on examination? x2

A

visible gastric peristalsis
palpable abdominal mass on test feed

160
Q

What are the investigations for pyloric stenosis?

A

Clinical examination, Blood gas analysis (indicates hypochloremic metabolic alkalosis due to vomiting of hydrochloric acid from the stomach)
Abdominal ultrasound (GS)

161
Q

What is the management for pyloric stenosis?

A

IV fluids to correct any fluid/electrolyte imbalances
Laparoscopic pyloromyotomy (Ramstedt’s operation)

162
Q

What is gastroenteritis?

A

Inflammation from the stomach to the intestines which presents with nausea, vomiting and diarrhoea

163
Q

What are the most common causes of gastroenteritis?

A

Most commonly viral cause: rotavirus, norovirus (highly contagious)
Bacterial causes: E. coli, Campylobacter jejuni, shigella, salmonella

164
Q

What is the management for gastroenteritis?

A

Extremely contagious so strict infection control and barrier nursing are key in hospital management
Fluid challenge
Antidiarrheals like loperamide
Antiemetic medications like metoclopramide
Antibiotics should only be given in patients who are at risk of complications once the causative organism is confirmed

165
Q

What are some potential complications of gastroenteritis? x4

A

lactose intolerance, IBS, reactive arthritis, GBS

166
Q

How would you define constipation?

A

The infrequent passage of dry, hardened faeces often accompanied by straining or pain and bleeding associated with hard stools. Can also be associated with abdominal pain, which comes and goes with passage of stool or overflow soiling.

167
Q

What are some risk factors for constipation? x6

A

Habitually not opening bowels
Low fibre diet
Poor fluid intake and dehydration
Sedentary lifestyle
Psychosocial problems such as difficult home or school environment

168
Q

What are some underlying conditions which can result in constipation? x6

A

Hirschsprung disease,
lower spinal cord problems,
anorectal abnormalities,
hypothyroidism,
coeliac disease and
hypercalcaemia

169
Q

What is the recommended management for constipation?

A

Correct any reversible contributing factors, recommend a high fibre diet and good hydration
Start laxatives (movicol is first line)
Faecal impaction may require a disimpaction regimen with high doses of laxatives at first
Toilet training/encouragement. This could involve scheduling visits, a bowel diary and star charts.

170
Q

What are the red flag symptoms for constipation? x5

A

failure to pass meconium within first 24 hrs of life (Hirschsprung’s disease)
gross abdominal distension,
abnormal lower limb neurology or deformity
Sacral dimple above natal cleft, over the spine
Abnormal appearance/position/patency of anus

171
Q

What are the key symptoms of appendicitis? x7

A

Abdominal pain (typically central abdominal pain which moves down to the right iliac fossa and then becomes localised there)
Loss of appetite
Nausea + vomiting
Rovsing’s sign
Guarding on abdominal palpation
Rebound tenderness
Percussion tenderness

172
Q

What are the investigations for appendicitis?

A

Clinical presentation, CT scan
Diagnostic laparoscopy (can be progressed to appendectomy)

173
Q

What are some differentials for appendicitis? x5

A

Ectopic pregnancy
Ovarian cysts
Meckel’s diverticulum
Mesenteric adenitis
Appendix mass

174
Q

What is intussusception?

A

The invagination of the proximal bowel into a distal segment.
Most commonly involves ileum passing into the caecum through the ileocaecal valve
It is the most common cause of intestinal obstruction in infants after the neonatal period

175
Q

What age range is peak presentation of intussusception?

A

3months - 2 years

176
Q

What are some risk factors for intussusception? x5

A

Concurrent viral illness
Henoch-Schonlein purpura
Cystic fibrosis
Intestinal polyps
Meckel diverticulum

177
Q

What are some key symptoms of intussusception? x6

A

paroxysmal , severe colicky pain with pallor
Refusal of feeds
Vomiting
Sausage shaped mass which may be palpable in the abdomen
Red-currant jelly stool comprising blood stained mucus
Abdominal distension and shock

178
Q

What are the investigations for intussusception?

A

Abdo XR
GS: Abdo USS or contrast enema

179
Q

What is the management for intussusception?

A

Iv fluid resuscitation is likely to be required
Reduction is attempted by rectal air insufflation unless peritonitis is present
Surgery is required if reduction with air is unsuccessful or for peritonitis

180
Q

What is a serious potential complication of intussusception?

A

stretching and constriction of the mesentery resulting in venous obstruction causing engorgement and bleeding from the bowel mucosa, fluid loss and bowel perforation, peritonitis and gut necrosis

181
Q

What is coeliac disease?

A

An autoimmune condition where exposure to gluten causes an immune reaction which creates inflammation in the small intestine
Usually develops in early childhood but can start at any age

182
Q

What are the 2 main antibodies responsible for coeliac?

A

The 2 main antibodies are anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA)

183
Q

What is the pathophysiology of coeliac disease?

A

In coeliac disease autoantibodies are created in response to exposure to gluten
These autoantibodies target the epithelial cells of the intestine and lead to inflammation

Inflammation affects the small bowel, particularly the jejunum. It causes atrophy of the intestinal villi. The intestinal cells have villi on them that help with absorbing nutrients from the food passing through the intestine. The inflammation causes malabsorption of nutrients and disease related symptoms.

184
Q

What are the risk factors for coeliac disease? x6

A

Type 1 diabetes
Thyroid disease
Autoimmune hepatitis
Primary biliary cirrhosis
Primary sclerosing cholangitis
Down’s syndrome

185
Q

What are some key symptoms of coeliac disease? x6`

A

Failure to thrive (young children)
Diarrhoea
Fatigue
Weight loss
Mouth ulcers
Anaemia secondary to iron, B12 or folate deficiency

186
Q

What are the investigations used to diagnose coeliac disease?

A

Investigations must be carried out whilst the patient remains on a diet containing gluten otherwise it may not be possible to detect the antibodies or bowel inflammation
Check total immunoglobulin A levels to exclude IgA deficiency
Check anti-TTG and anti-endomysial antibodies

GS: Endoscopy and intestinal biopsy (show crypt hypertrophy and villous atrophy)

187
Q

What is the management for coeliac disease?

A

lifelong gluten free diet
disease monitoring

188
Q

What are the complications of untreated coeliac disease? x7

A

Vitamin deficiency
Anaemia
Osteoporosis
Ulcerative jejunitis
Enteropathy-associated T-cell lymphoma (EATL) of the intestine
Non-Hodgkin lymphoma (NHL)
Small bowel adenocarcinoma (rare)

189
Q

What is the definition of failure to thrive?

A

poor physical growth and development in a child

190
Q

What is the definition of faltering growth?

A

the failure to gain adequate weight or achieve adequate growth during infancy and childhood.

weight that has fallen down 2 centile lines

191
Q

What are the thresholds for concern with faltering growth?

A

One or more centile spaces if their birth weight was below the 9th centile
Two or more centile spaces if their birth weight was between the 9th and 91st centile
Three or more centile spaces if their birth weight was above the 91st centile

192
Q

What are some causes of failure to thrive? x5

A

Inadequate nutritional intake
Difficulty feeding
Malabsorption
Increased energy requirements
Inability to process nutrition

193
Q

What are some causes of inadequate nutrition? x4

A

Maternal malabsorption if breastfeeding
Iron deficiency anaemia
Neglect
Availability of food (i.e. poverty)

194
Q

What are some causes of malabsorption? x5

A

Cystic fibrosis
Coeliac disease
Cows milk intolerance
Chronic diarrhoea
Inflammatory bowel disease

195
Q

What are some causes of increased energy requirements? x4

A

Hyperthyroidism
Chronic disease, for example congenital heart disease and cystic fibrosis
Malignancy
Chronic infections e.g. HIV or immunodeficiency

196
Q

What are the recommended investigations for faltering growth? x2

A

Urine dipstick for UTI
Coeliac screen

197
Q

What is the recommended management for inadequate nutrition in children?

A

Encourage regular structured mealtimes and snacks
Reduce milk consumption to improve appetite for other foods
Review by a dietician
Additional energy dense foods to boost calories
Nutritional supplements drinks

198
Q

What is the definition of malnutrition?

A

the cellular imbalance between the supply of nutrients and energy and the body’s demand for them to ensure growth, maintenance, and specific functions.

199
Q

Why are pre-school age children at increased risk of malnutrition?

A

because of their dependence on others for food, increased protein and energy requirements, immature immune systems causing a greater susceptibility to infection, and exposure to unhygienic conditions

200
Q

What is PEM?

A

Protein-energy malnutrition - a group of related disorders which include marasmus, kwashiorkor and intermediate states of marasmus-kwashiorkor

201
Q

What is the definition of kwashiorkor?

A

a PEM disorder characterised by nutritional oedema and metabolic disturbances, including hypoalbuminemia and hepatic steatosis

202
Q

What is the typical presentation of a child with kwashiorkor?

A

peripheral pitting oedema, “moon facies”, hepatomegaly, pursed mouth

203
Q

What is the pathophysiology of kwashiorkor?

A

adequate carbohydrate consumption and reduced protein intake in kwashiorkor which leads to decreased synthesis of important proteins
The resulting hypoalbuminaemia contributes to extravascular fluid accumulation
Impaired synthesis of B-lipoprotein produces a fatty liver
Diarrhoea and psychomotor changes are also seen
Skin becomes dark, dry and splits open when stretched (enamel paint skin)

204
Q

What is the definition of marasmus

A

= an adaptive response to starvation characterised by severe wasting

205
Q

What is the typical presentation of marasmus?

A

low weight-for-height and have a reduced mid-upper arm circumference, as well as a head which appears large relative to the rest of their body, also dry skin, thin hair, irritability

206
Q

What is the pathophysiology of marasmus?

A

Occurs when there is an insufficient energy intake to match the body’s requirements
This results in the body using its own stores which results in emaciation
“Monkey facies” as a result of loss of buccal fat pads
The skin is xerotic, wrinkled and loose
Fine, brittle hair, alopecia, impaired growth, nail fissuring

207
Q

What is the management for PEM disorders?

A

Priority is correcting fluid and electrolyte imbalances and treatment of any infections
Macronutrient repletion should be commenced within 48 hrs
Topical zinc paste can be used to heal areas of skin breakdown in kwashiorkor
Dietary therapy

208
Q

What is Hirschsprung’s disease?

A

A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum

209
Q

What is the key pathophysiology of hirschsprung’s disease?

A

the absence of parasympathetic ganglion cells which results in inability of the aganglionic section to relax so it becomes constricted and movement of faeces is lost → bowel obstruction

210
Q

Which conditions are associated with Hirschsprung’s disease? x4

A

Downs syndrome
Neurofibromatosis
Waardenburg syndrome
Multiple endocrine neoplasia type II

211
Q

What are the symptoms of Hirschsprung’s disease? x6

A

Variable presentation
Delay in passing meconium (more than 24hrs)
Chronic constipation since birth
Abdo pain and distension
Vomiting
Poor weight gain and failure to thrive

212
Q

What are the investigations for Hirschsprung’s disease?

A

Abdominal x-ray
GS: Rectal biopsy

213
Q

What is the management for Hirschsprung’s disease?

A

Unwell children + those with enterocolitis will require fluid resuscitation and management of intestinal obstruction
IV antibiotics are required in HAEC
Definitive management is by surgical removal of the aganglionic section of the bowel

214
Q

What is biliary atresia?

A

A congenital condition where a section of the bile duct is either narrowed or absent.
This results in cholestasis, where the bile cannot be transported from the liver to the bowel.
Conjugated bilirubin is excreted into the bile, therefore biliary atresia prevents the excretion of conjugated bilirubin.

215
Q

What are the symptoms of biliary atresia? x6

A

Significant persistent jaundice shortly after birth (high conjugated bilirubin levels)
Pale stools and dark urine
Pruritus
Normal birth weight followed by faltering growth
Hepatomegaly is often present initially
Splenomegaly develops due to portal hypertension

216
Q

What are the investigations for biliary atresia?

A

Unconjugated and conjugated bilirubin, fasting abdo USS
GS: ERCP
Liver biopsy

217
Q

What is the management for biliary atresia?

A

Kasai portoenterostomy is the only treatment for biliary atresia and involves attaching a section of the small intestine to the opening of the liver where the bile duct normally attaches.

This is somewhat successful and can clear the jaundice and prolong survival however the disease progresses in most children who may develop cholangitis and cirrhosis with portal hypertension.

Nutrition and fat-soluble vitamin supplementation is essential

Definitive treatment is a full liver transplant

218
Q

What is a choledochal cyst?

A

Congenital cystic dilatations of the extrahepatic biliary system

219
Q

What are the symptoms of choledochal cysts?

A

Neonatal jaundice and acholic stools
In older children: abdo pain, RUQ palpable mass, jaundice or cholangitis

220
Q

What are the investigations for choledochal cysts

A

FBC, LFTs, amylase and lipase, serum chemistry
GS: Abdo USS/MRCP

221
Q

What is the management for choledochal cysts

A

Surgical excision of the cyst with the formation of a Roux-en-Y anastomosis to the biliary duct

222
Q

What are some of the potential triggers in IBS? x5

A
  • food poisoning/gastroenteritis
  • stress
  • irregular eating or abnormal diet
  • certain medications
  • interaction between the brain and gut
223
Q

What are some risk factors for IBS? x3

A

Family history
physical /sexual abuse
PTSD

224
Q

What are some of the symptoms of IBS? x5

A

Non-specific abdominal pain (often periumbilical and may be relieved by defecation)
Explosive, loose, or mucousy stools
Bloating
Feeling of incomplete defecation
Constipation (often alternating with normal or loose stools)

225
Q

What is the management for IBS? (conservative, moderate and severe)

A

Conservative = patient/parent education (diet changes) + reassurance
Moderate = IBS-C → laxatives (e.g. senna), IBS-D → antimotility drug (loperamide)
Severe = TCA (tricyclic antidepressants e.g. amitriptyline) + consider CBT/GI referral

226
Q

What is Crohn’s disease?

A

Transmural (all 4 layers) autoimmune inflammation affecting the whole GI tract, especially terminal ileum + proximal colon (usually rectum spared).
Associated with skip lesions on endoscopy

227
Q

What are the key symptoms of Crohn’s disease? x5

A

Abdominal pain
Diarrhoea
Weight loss
Fever
Lethargy

228
Q

What are the investigations for Crohns?

A

pANCA -ve (may be ASCA +ve)
Faecal calprotectin ↑
Biopsy = transmural inflammation with non-caseating granulomas
Endoscopy - skip lesions, cobblestoned appearance of GI tract, string sign (narrowing of GI tract)

229
Q

What is the management for Crohn’s?

A

nutritional therapy to induce remission (whole protein modular feeds for 6-8 weeks)

systemic steroids if nutritional therapy ineffective

immunosuppressant medications e.g. azathioprine, mercaptopurine or methtrexate to maintain remission

Anti-tumour necrosis factor agents (infliximab or adalimumab) when no response to conventional treatments

surgery can be indicated for complications like obstructions, fistulae, abscesses

230
Q

What is ulcerative colitis?

A

recurrent, inflammatory and ulcerating disease involving the colonic mucosa

231
Q

Which gene and antibody are associated with UC?

A

HLAB27 and pANCA

232
Q

What are the key symptoms of UC? x3

A

rectal bleeding
diarrhoea
colicky pain

233
Q

What are the systemic/non-GI signs of UC? x5

A

weight loss
growth failure
uveitis/episcleritis
erythema nodosum
arthritis

234
Q

What are the investigations for UC?

A

pANCA +ve

Faecal calprotectin ↑ (non-specific)

Biopsy = mucosal inflammation with crypt hyperplasia

Colonoscopy = continuous, “lead pipe” sign (loss of haustrations)

235
Q

What scoring system is used to assess the severity of UC flares?

A

Severity of flares are assessed by Trueglove + Witts scoring (mild/moderate/severe)

236
Q

What is the management for UC?

A

Aminosalicylates (e.g. mesalazine) are used for induction and maintenance therapy

Disease confined to the rectum and sigmoid colon (rare in children) may be managed with topical steroids

More aggressive or extensive disease requires systemic steroids for acute exacerbations and immunomodulatory therapy e.g. azathioprine alone to maintain remission or in combination with low-dose corticosteroid therapy

Biologics may be used in therapy resistant disease

Colectomy with an ileostomy or ileorectal pouch is undertaken for severe fulminating disease, which may be complicated by a toxic megacolon, or for chronic poorly controlled disease

237
Q

What is Meckel’s diverticulum?

A

an ileal remnant of the vitello-intestinal duct which contains ectopic gastric mucosa or pancreatic tissue

238
Q

What are the usual presentations of Meckel’s diverticulum?

A

severe rectal bleeding with an acute reduction in haemoglobin
intussusception
volvulus
diverticulitis

239
Q

What is the investigation for Meckel’s diverticulum?

A

Technetium scan will demonstrate increased uptake by ectopic gastric mucosa in 70% of cases

240
Q

What is the treatment for Meckel’s diverticulum

A

surgical resection

241
Q

What is toddler’s diarrhoea?

A

chronic nonspecific diarrhoea with 3+ loose watery stools per day

Child is otherwise well and usually resolves on its own

242
Q

What is colic?

A

paroxysmal, inconsolable crying or screaming often accompanied by drawing up of the knees and passage of excessive flatus several times a day

243
Q

What is the management of colic?

A

parental reassurance and support but no medical treatments needed

244
Q

At what age is colic usually seen?

A

first few weeks of life until 3-12 months

245
Q

What is the definition of a cow’s milk allergy?

A

reproducible immune-mediated allergic response to one or more proteins in cow’s milk

246
Q

At what age does cow’s milk allergy usually present?

A

in the first 3 months of life in formula fed infants

247
Q

What are the signs/symptoms of cow’s milk allergy?

A

Regurgitation and vomiting
Diarrhoea
urticaria , atopci eczema
‘Colic’ symptoms - irritability, crying
Wheeze, chronic cough
Rarely angioedema and anaphylaxis may occur

248
Q

What are the investigations for cow’s milk allergy?

A

Diagnosis is most often clinical (e.g. improvement of symptoms with cow’s milk protein elimination)

Skin prick/patch testing

Total IgE and specific IgE rapid antigen spot testing (RAST) for cow’s milk protein

249
Q

What is the management for cow’s milk allergy? formula vs breast-fed

A

formula fed
- extensive hydrolysed formula milk
- if no response to eHF, amino acid-based formula in infants with severe CMPA

breastfed
- continue breastfeeding
- eliminate cow’s milk protein from maternal diet
- use eHF milk when breastfeeding stops

250
Q

What symptoms and signs are seen with neonatal hepatitis syndrome?

A

Baby has intrauterine growth restriction,
Jaundice,
failure to thrive,
itchy rash,
dark urine
hepatomegaly

251
Q

What are the signs of liver biopsy of neonatal hepatitis syndrome?

A

raised unconjugated and conjugated bilirubin
multinucleated giant cells + Rosette formation

252
Q

What are the 2 main causes of physiological jaundice in newborns?

A

foetal haemoglobin
- this has a shorter lifespan than adult haemoglobin and is constantly being broken down
- the newborn liver cannot cope with the large volumes of bilirubin resulting in build up in the blood

breastfeeding jaundice
- breastfed babies are often more jaundiced, and for longer than bottle-fed babies

253
Q

What are some causes of acugte liver failure in children <2yrs old?

A

infection
metabolic disease
seronegative hepatitis
drug-induced
neonatal
haemochromatosis

254
Q

What are febrile convulsions/seizures?

A

a seizure accompanied by a fever in the absence of intracranial infection

255
Q

Between what ages do febrile seizures usually occur?

A

6 months to 5 years

256
Q

What are some differential diagnoses for febrile seizures? x6

A
  • epilepsy
  • meningitis, encephalitis or other neurological infection
  • intracranial space occupying lesions e.g. brain tumours, intracranial haemorrhage
  • syncopal episode
  • electrolyte abnormalities
  • trauma
257
Q

What is the typical presentation of a febrile convulsion?

A

child around 6 months presenting with a 2-5 min tonic-clonic seizure during a high fever

258
Q

What’s the difference between simple and complex febrile convulsions? how is the management different?

A

simple = generalised, tonic clonic seizures, <15 min and only occur once during single febrile illness
- management is reassurence and education

complex = partial or focal seizures, >15 mins, occur multiple times during one febrile illness
- may need further investigation and hospitalisation

259
Q

What are infantile spasms?

A

also known as West syndrome
a rare disorder characterised by clusters of full body spasms which start around 6 mo age

260
Q

What is the prognosis and treatment for infantile

A

poor prognosis : 1/3 die by 25 yrs, 1/3 seizure free

treatment:
prednisolone
vigabatrin

261
Q

What are blue breath-holding spells? can they be treated?

A

occur in some toddlers when they are upset

the child cries, holds his breath in expiration and goes blue

sometimes children will briefly lose consciousness but rapidly fully recover

drug therapy is not helpful but behaviour modification therapy with distraction may help

262
Q

What is reflex asystolic syncope?

A

also known as reflex anoxic seizures where the child becomes pale and falls to the floor following a trigger - the hypoxia may induce a generalised tonic-clonic seizure

occur in infants and toddlers

commonest trigger = pain or discomfort particularly from minor head trauma, cold food, fright or fever

263
Q

What are the main features of ADHD? x6

A

Very short attention span
Quickly moving from one activity to another
Quickly losing interest in a task and not being able to persist with challenging tasks
Constantly moving or fidgeting
Impulsive behaviour
Disruptive or rule breaking

264
Q

What causes ADHD?

A

ADHD is most likely caused by a complex interplay of factors:
neurobiologic (neuroanatomical and neurochemical)
genetic influences
environmental/psychosocial factors
CNS insults (such as perinatal factors, CNS infections, FAS or premature.)
Research repeatedly demonstrates that ADHD runs in families

265
Q

What are the 3 core behaviours of ADHD?

A
  1. Hyperactivity.
  2. Inattention.
  3. Impulsivity.
    (HII)

These symptoms occur in every child from time to time but when they are persistent and impact on daily functions, more investigation is needed

266
Q

ADHD core behaviours: give 3 signs of hyperactivity.

A

Fidgety.
Talkative.
Noisy.
Can’t remain seated.
Often ‘On the go’ or acts as if driven by a motor

267
Q

ADHD core behaviours: give 3 signs of impulsivity.

A

Blurts out answers.
Interrupts.
Difficulty waiting turns.
When older, pregnancy and drug use.

268
Q

ADHD core behaviours: give 3 signs of inattention.

A

Easily distracted.
Not listening.
Mind wandering.
Struggling at school.
Forgetful.
Organisational problems.

Does not appear to be listening when spokento directly
Makes careless mistakes
Loses important items

269
Q

What tools can be used to diagnose ADHD?

A

Clinical interview - are there any RF’s for ADHD?
ADHD nurse classroom observation.
Questionnaires (SNAP), Conor’s questionaire
Quantitative behavioural (QB) analysis.

270
Q

What is the treatment for ADHD?

A

Education.
Parenting programmes and school support.
Medications e.g. methylphenidate. (Conerta, Equaysm), or Lisdexamfetamine (Elvanse)

271
Q

What is cryptorchidism

A

undescended testes

272
Q

what are some risk factors for cryptorchidism?

A

Preterm birth
Family history
Low birth weight
Small for gestational age
Maternal smoking during pregnancy

273
Q

what is the management for cryptorchidism in newborns?

A

Watching and waiting is appropriate in newborns as most will descend within the first 3-6 months

274
Q

At what age should children with unilateral cryptorchidism be referred?

A

consider from 3 months
baby should see urological surgeon at 6 months

275
Q

what percentage of boys have undescended testes at birth? where may they be instead?

A

In about 5% of boys the testes have not made it out of the abdomen by birth. At this point they are called undescended testes.

They might be palpable in the inguinal canal (in the inguinal region), which is not technically classed as undescended testes, although they have not fully descended at that point.

276
Q

what are some potential complication of untreated cryptorchidism?

A

Undescended testes in older children or after puberty hold a higher risk of testicular torsion, infertility and testicular cancer.

277
Q

what is the treatment for cryptorchidism?

A

orchidoplexy (surgical correction) should be carried out between 6-12 months of age

278
Q

what is testicular torsion?

A

twisting of the spermatic cord with rotation of the testicle which leads to ischaemia and eventually necrosis

urological emergency with 6 hour window after onset before ischaemic damage is irreversible

279
Q

what are the examination findings with testicular torsion? x5

A

Firm swollen testicle
Elevated (retracted) testicle
Absent cremasteric reflex
Abnormal testicular lie (often horizontal)
Rotation, so that epididymis is not in normal posterior position

280
Q

What symptoms are associated with testicular torsion?

A

rapid onset unilateral testicular pain
abdo pain
vomiting

281
Q

What is a bell clapper deformity?

A

one of the causes of testicular torsion

where the fixation between the testicle and the tunica vaginalis is absent so the testicle hangs in a horizontal position (like a bell-clapper) instead of the typical more vertical position

it is able to rotate within the tunica vaginalis, twisting at the spermatic cord

282
Q

what is the management for testicular torsion?

A

urological emergency!

nil by mouth (in preparation for surgery)
analgesia
urgent senior urology assessment
surgical exploration of the scrotum
orchiopexy (correcting the position of the testicles and fixing them in place)
orchidectomy (removing the testicle) - if there is necrosis

283
Q

What sign can be seen on scrotal ultrasound to confirm testicular torsion?

A

whirpool sign (spiral appearance to the spermatic cord and blood vessels)

284
Q

What is a hydrocele?

A

Hydrocele refers to a collection of serous fluid between the parietal and visceral layers of the tunica vaginalis (membrane covering the testes).

285
Q

what is the difference between simple and communicating hydroceles?

A

Simple - overproduction of fluid in the tunica vaginalis
Communicating - processus vaginalis fails to close, allowing peritoneal fluid to communicate freely with the scrotal portion

286
Q

What is the management for a hydrocele?

A

Management
Resolve spontaneously
Many of infancy resolve by 2 years
Therapeutic aspiration or surgical removal

287
Q

What is an epididymal cyst?

A

Smooth, extra-testicular, spherical sac of fluid in the head of the epididymis (top of testicle). - also known as a spermatocele

288
Q

What are some investigations/differentials/management for an epididymal cyst?

A

Investigations
- Scrotal ultrasound
Differential diagnosis
- Hydrocele
- Varicocele
Management
- Usually not necessary
- Removed, if symptomatic

289
Q

What is the definition of precocious puberty?

A

development of secondary sexual characteristic before 8 years of age in females and 9 years of age in males

290
Q

what are the 2 categories of precocious puberty?

A

gonadotrophin dependent (true precocious puberty) - caused by premature activation of the HPG axis - consonant (normal) sequence of pubertal development

gonado-trophin independent (false precocious puberty) - caused by excess sex steroids outside the pituitary gland - dissonant sequence of pubertal development

291
Q

what are some causes of precocious puberty in girls?

A

usually idiopathic or familial

gonadotrophin-independent causes e.g. congenital adrenal hyperplasia or adrenal tumours

gonadotrophin-dependent causes e.g. pituitary adenoma

292
Q

What are the most common causes of precocious puberty in males?

A

more likely to be pathological

gonadotrophin-dependent causes e.g. intracranial tumour or rarely a liver tumour secreting beta-human chorionic gonadotrophin

gonadotrophin-independent causes e.g. adrenal adenoma, congenital adrenal hyperplasia, gonadal tumour

293
Q

What is the management for precocious puberty?

A

detection and treatment of any underlying pathology
reducing the rate of skeletal maturation
addressing psychological/behavioural difficulties associated with early progression through puberty

294
Q

What are the causes of congenital hypothyroidism?

A
  • maldescent of the thyroid and athyrosis
  • dyshormonogenesis (inborn error of thyroid hormone synthesis)
  • iodine deficiency
  • TSH deficiency
295
Q

give 5 clinical features of congenital hypothyroidism?

A
  • faltering growth
  • feeding problems
  • prolonged jaundice
  • constipation
  • pale, cold, mottled
    dry skin
  • coarse facies
  • large tongue
  • hoarse cry
  • goitre (occasionally)
  • umbilical hernia
  • delayed
    development
296
Q

How is congenital hypothyroidism usually detected?

A

routine neonatal biochemical screening (Guthrie test) performed on all newborn infants, by identifying a raised TSH in the blood

297
Q

What is the treatment for congenital hypothyroidism?

A

levothyroxine before 2-3 weeks of age (needed this early to prevent impaired neurodevelopment)
- treatment is lifelong

298
Q

What are the 2 types of hypogonadism?

A

Hypogonadotrophic hypogonadism (secondary): a deficiency of LH and FSH

Hypergonadotrophic hypogonadism (primary): a lack of response to LH and FSH by the gonads (the testes and ovaries)

299
Q

What are some causes of hypogonadotrophic hypogonadism?

A
  • Systemic disease:
    – cystic fibrosis, severe asthma, Crohn’s disease, organ failure, anorexia nervosa, starvation, excess physical training
  • Hypothalamo-pituitary disorders:
    – pituitary dysfunction
    – isolated gonadotrophin or growth hormone
    deficiency
    – intracranial tumours (including
    craniopharyngioma)
300
Q

What are some causes of hypergonadotrophic hypogonadism?

A
  • Chromosomal abnormalities:
    – Klinefelter syndrome (47,XXY)
    – Turner syndrome (45,XO)
  • Steroid hormone enzyme deficiencies
  • Acquired gonadal damage:
    – postsurgery, chemotherapy, radiotherapy, trauma, torsion of the testis, autoimmune disorder
301
Q

What are some investigations used when diagnosing hypogonadism?

A

when there is no evidence of pubertal changes in a girl aged 13 or a boy aged 14

Full blood count and ferritin for anaemia
U&E for chronic kidney disease
Anti-TTG or anti-EMA antibodies for coeliac disease

Early morning serum FSH and LH (the gonadotropins).
Thyroid function tests
Growth hormone testing. Insulin-like growth factor I is often used as a screening test for GH deficiency.
Serum prolactin

Genetic testing for:
Kleinfelter’s syndrome (XXY)
Turner’s syndrome (XO)

302
Q

What would the early morning FSH and LH levels look like in Hypogonadotrophic hypogonadism and hypergonadotrophic hypogonadism?

When would imaging be useful, and where?

A

Early morning serum FSH and LH (the gonadotropins). These will be low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism.

Imaging can be useful:

Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay
Pelvic ultrasound in girls to assess the ovaries and other pelvic organs
MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

303
Q

What is Kallman syndrome?

A

a genetic form of hypogonadotrophic hypogonadism, which prevents a person from starting or fully completing puberty

304
Q

what feature of Kallman’s syndrome distinguishes it from other forms of hypogonadotrophic hypogonadism?

A

total lack of sense of smell or a reduced sense of smell

305
Q

What is the treatment for Kallman’s syndrome?

A

hormone replacement therapy to replace testosterone or oestrogen and progesterone

306
Q

WHat inheritance pattern is seen in Kallman syndrome?

A

x-linked recessive or dominant

307
Q

what is congenital adrenal hyperplasia?

A

congenital deficiency of the 21-hydroxylase enzyme which causes underproduction of cortisol and aldosterone and overproduction of androgens from birth

308
Q

what is the inheritance pattern of congenital adrenal hyperplasia?

A

autosomal recessive

309
Q

briefly describe the pathophysiology of CAH

A

21-hydroxylase is the enzyme responsbile for converting progesterone into aldosterone and cortisol

progesterone is used to make to testosterone but this process does not involve 21-hydroxylase

in CAH, a defect in this enzyme results in more progesterone floating around which cant be converted into aldosterone or cortisol so it gets converted into testosterone instead

this results in a patient with low aldosterone, low cortisol and abnormally high testosterone

310
Q

What it the presentation of CAH in severe cases

A

in female patients, CAH usually present at birth with virilised genitalia, known as ambiguous genitalia and an enlarged clitoris due to the high testosterone levels

patients with more severe CAH present shortly afetr birth with hyponatraemia, hyperkalaemia and hypoglycaemia

this leads to signs and symptoms:

Poor feeding
Vomiting
Dehydration
Arrhythmias

311
Q

What is the presentation of mild CAH in females

A

tall for their age
facial hair
absent periods
deep voice
early puberty

312
Q

What is the presentation of mild CAH in males?

A

tall for their age
deep voice
large penis
small testicles
early puberty

313
Q

why is skin hyperpigmentation a sign of CAH?

A

the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH

a byproduct of the production of ACTH is melanocyte stimulating hormone
this hormone stimulates the production of melanin within skin cells

314
Q

what is androgen insensitivity syndrome ?

A

an x-linked recessive genetic condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors

previously known as testicular feminisation syndrome

315
Q

What is the presentation of androgen insensitivity syndrome?

A

genetically male patients with an externally female phenotype (normal female external genitalia and breast tissue) due to absent response to testosterone

patients have testes in the abdomen or inguinal canal and no internal female organs

no pubic or facial hair or male muscle development

infertile

316
Q

What is partial androgen insensitivity syndrome and how does it present?

A

the cells have a partial response to androgens so have more ambiguous signs and symptoms such as micropenis or clitoromegaly

317
Q

What are the results of hormone tests in androgen insensitivity syndrome?

A

Raised LH
Normal or raised FSH
Normal or raised testosterone levels (for a male)
Raised oestrogen levels (for a male)

318
Q

What is the management for androgen insensitivity syndrome?

A

MDT support

bilateral orchidectomy to avoid testicular tumours
oestrogen therapy
vaginal dilators or vaginal surgery

generally patients are raised female but this is sensitive and tailored to the individual

319
Q

What is the action of sodium valproate in epilepsy treatment?

A

increases the activity of GABA which has a relaxant affect on the brain by stopping the release of excitatory neurotransmitters

320
Q

What is status epilepticus?

A

medical emergency defined as seizures lasting more than 5 minutes or more than 3 seizures in one hour

321
Q

What is epilepsy?

A

an umbrella term for chronic conditions where patients have a tendency to have recurrent, unprovoked epileptic seizures

322
Q

What are seizures>

A

Transient episodes of abnormal electrical in the brain which cause changes in behaviour, sensation or cognitive processes

323
Q

What is a focal seizure?

A

originates in one hemisphere, retained awareness or impaired awareness, usually 2 minutes or less

324
Q

What are examples of focal seizures?

A

focal aware seizure, focal impaired awareness seizure

325
Q

What are examples of generalised seizures?

A

tonic-clonic, absence, myoclonic, tonic, atonic

326
Q

What are the risk factors for epilepsy?

A

FHx
CNS infection history
Head trauma
Prior seizure events/suspected seizure events
Hx of substance use
Premature birth
Multiple or complicated febrile seizures

327
Q

What are the stages of an epileptic seizure?

A

prodrome = mood changes, days before
aura = minutes before, deja vu + automatisms (lip smacking, rapid blinking) - not always present (most commonly seen in temporal lobe epilepsy)
ictal event = seizure
post-ictal period = symptoms such as headache, confusion, ↓GCS, Todd’s paralysis, dysphasia, amnesia, sore tongue (pts bite tongue during ictal phase)

328
Q

What are the positive ictal symptoms?

A

loss of awareness
memory lapse
feeling confused
difficulty hearing
odd smells, sounds or tastes
loss of muscle control
changes in speech/ability to speak

329
Q

What are examples of post-ictal symptoms?

A

confusion
amnesia
drowsiness
hypertension
headache
nausea

330
Q

What are some other common features of epileptic seizures?

A

can occur from sleep
can be associated with other brain dysfunction
lateral tongue bite
deja vu
incontinence

331
Q

What are the investigations for epilepsy?

A

EEG, ECG, CT head + MRI

332
Q

How many seizures must a patient have had for epilepsy diagnosis to be considered?

A

2+

333
Q

What is the management for epilepsy?

A

aim is to be seizure free on the minimum anti-epileptic medications
1st line = sodium valproate

334
Q

What are the features of generalised tonic-clonic seizures?

A

no aura
loss of consciousness
tonic (muscle tensing, fall to floor) and clonic (muscle jerking) episodes
typically tonic before clonic
eyes open and upward gazing
incontinence
tongue biting
post-ictal period

335
Q

What is the 1st and 2nd line treatment for generalised seizures?

A

1st line: sodium valproate
2nd line: lamotrigine or carbamazepine

336
Q

What are the characteristics of absence seizures?

A

typically occur in children
patient becomes blank, stares into space and then abruptly returns to normal
last 10-20 seconds

337
Q

WHat are the characteristic features of myoclonic seizures?

A

sudden brief muscle contractions like a sudden jump
patient normally remains awake during the episode
occur in various forms of epilepsy but typically happen in children as part of juvenile myoclonic epilepsy

338
Q

What are the characteristic features of focal seizures?

A

originate in temporal lobes
affect hearing, speech, memory and emotions
present with hallucinations, memory flashbacks, deja vu, doing strange things on autopilot

339
Q

What are the features of a frontal focal seizure?

A

Jacksonian march + Todd’s palsy

340
Q

What are the features of a temporal focal seizure?

A

aura, dysphagia, post-ictal period

341
Q

what are the features of an occipital seizure?

A

vision changes

342
Q

What are the 1st and 2nd line treatments for focal seizures?

A

1st: carbamazepine or lamotrigine
2nd: sodium valproate or levetiracetam

343
Q

What is the difference between simple and complex focal seizures?

A

simple: no LOC, patient awake + aware, uncontrollable muscle jerking confined to one part of body
complex: LOC, patient unaware, post-ictal period

344
Q

What are the causes of seizures? (VITAMINDE)

A

Vascular
Infection
Trauma
Autoimmune e.g. SLE
Metabolic e,g. Hypocalcaemia
Idiopathic e.g. epilepsy
Neoplasms
Dementia + Drugs (cocaine)
Eclampsia

345
Q

What are functional/dissociative seizures?

A

paroxysmal event in which changes in behaviour sensation and cognitive function caused by mental processes triggered by internal or external aversive stimuli

346
Q

What are the characteristics of functional/dissociative seizures?

A

situational
duration 1-20 mins
dramatic motor phenomena/prolonged atonia
eyes closed
ictal crying and speaking
suprisingly rapid or slow post-ictal recovery
history of psychiatric illlness, other somatoform disorders

347
Q

What is anorexia nervosa?

A

when a person feels they are overweight despite evidence of normal or low body weight

involves obsessive restriction of calorie intake with the intention of losing weight often combined with excessive exercising and diet pills or laxatives to restrict absorption of food

348
Q

What are the 3 main ICD-10 criteria for anorexia nervosa?

A

Deliberately keeping weight <85% of expected

Morbid fear of fatness (intensive overvalued idea)

Endocrine effects (menstruation stops, delayed puberty, loss of sexual interest/potency)

349
Q

What are some of the symptoms/signs of anorexia nervosa? complications?

A

excessive weight loss
amenorrhoea
lanugo hair (fine, soft hair covering the body)
hypokalaemia
hypotension
hypothermia
changes in mood, anxiety and depression
solitude

cardiac complications include arrhythmia, cardiac atrophy and sudden cardiac death

350
Q

What is bulimia nervosa?

A

binge eating disorder normally associated with normal or fluctuating weight as people with the condition binge eat and then purge by inducing vomiting or taking laxatives to prevent calorie absorption

351
Q

What are some signs/symptoms of bulimia nervosa?

A

alkalosis (due to vomiting HCl from the stomach)
hypokalaemia
erosion of teeth
swollen salivary glands
mouth ulcers
gastro-oesophageal reflux and irritation
Russell’s sign - calluses on the knuckles where they have been scraped across the teeth

352
Q

What is Type I diabetes?

A

An insulin deficiency disease characterised by loss of beta cells due to autoimmune destruction.

353
Q

What are the risk factors for T1 Diabetes?

A
  • HLA DR3 and DR4 and islet cell antibodies
  • Other autoimmune diseases
  • Environmental infections (e.g. viruses)
354
Q

What is the cause of Type I diabetes?

A

Beta cells express HLA (human leukocyte antigen) which activates a chronic cell mediated immune process leading to chronic ‘insulitis’ and consequently insulin insufficiency

355
Q

What is the typical presentation/symptoms of Type I DM?

A

Young lean pt
- polydipsia
- nocturia/polyuria
- glycosuria
- polyphagia (excessive eating) + weight loss
- excessive tiredness

356
Q

What is the treatment for T1DM?

A

Basal Bolus Insulin
- basal = longer acting to maintain stable insulin levels throughout day
- bolus = faster acting, 30 mins preprandial to give “insulin spike”

357
Q

What is diabetic ketoacidosis?

A

Result of too much gluconeogenesis so that glucose is converted to ketone bodies which are acidic. Caused by poorly managed T1 DM or from infection/illness

358
Q

What are the signs of diabetic ketoacidosis?

A

T1DM symptoms +…
- Kussmaul breathing (deep laboured breaths to compensate for increased CO2)
- Pear drop breath (breath smells fruity due to ketones)
- Reduced tissue turgor, hypotension + tachcardia

359
Q

What are the diagnostic blood concentrations of ketones, glucose and acid in DKA?

A

Ketones >3mmol/l
Random plasma glucoe >11.1mmol/l
pH<7.3 or <15mmol HCO3-

360
Q

What is the treatment for DKA?

A
  • in an emergency ABCDE
  • 1st line always fluid (dehydration is most likely cause of death)
  • then insulin (+ glucose and postassium)
361
Q

What are the potential complications of DKA?

A
  • cerebral oedema
  • adult respiratory distress syndrome
  • thromboembolism
  • aspiration pneumonia (drowsy/comatose patients)
  • death
362
Q

Why can insulin treatment for DKA cause hypokalaemia and why is this dangerous?

A

insulin decreases potassium levels in the blood by redistributing K+ into the cells via increased Na/K pump activity causing low serum K+ levels –> hypokalaemia
low levels of K+ can cause arrhythmia, weakness (as the heart and muscles can struggle to contract)

363
Q

What is turner’s syndrome?

A

when a female has a single X chromosome, making them 45 XO

364
Q

What are the main features seen in Turner’s syndrome?

A

short stature
webbed neck
high arching palate
downward sloping eyes with ptosis
broad chest with widely spaced nipples
cubitus valgus
underdeveloped ovaries with reduced function
late or incomplete puberty
most women are infertile

365
Q

What are some conditions associated with Turner’s syndrome

A

Recurrent otitis media
Recurrent urinary tract infections
Coarctation of the aorta
Bicuspid aortic valve
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various specific learning disabilities

366
Q

What is the management for Turner’s syndrome?

A

growth hormone therapy (to prevent short stature)
oestrogen and progesterone replacement
fertility treatment

management of secondary conditions

367
Q
A

Phase 3A (10 decks)

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