Background Flashcards

1
Q

Infective ddx sore throat

A

Life threatening (ACTED)

  • Abscess
  • > usually polymicrobial (Group A strep, s. aureus)
  • Candidiasis
  • > indicative of immunosuppression
  • Thrombophlebitis jugular
  • > complication of pharyngitis
  • > associated with septic PE
  • Epiglottis
  • > usually h. influenza in unvaccinated child
  • Diphtheria
  • > in unvaccinated child

Non life threatening (SIPS AHCE)

  • sexually transmitted (rare/abuse/sexually active)
  • > gonorrhoea
  • > HIV
  • influenza and parainfluenza viruses (common)
  • pyogenes (common)
  • strep species (Group C/G)
  • > presents like GAS
  • adenovirus (pharyngoconjunctival fever)
  • herpetic stomatitis
  • coxsachie A virus (hand, foot and mouth/herpangina)
  • EBV (infectious mononucleosis)
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2
Q

Complications strep pharyngitis

A

GRASP FATSO

  • Glomerulonephritis
  • > immune complex disease
  • > complement activation/inflammation
  • > light microscopy = proliferative glomerulonephritis
  • > IF = granular IgG and C3 deposition (starry sky)
  • > electron microscopy = sub epithelial humps
  • > clinically = asymptomatic to nephritic syndrome
  • Rheumatic fever
  • > latent period of approx 3 weeks
  • Arthritis
  • > less responsive to NSAIDs than polyarthritis
  • > less association with carditis than polyarthritis
  • Scarlet fever
  • > scarlatiniform rash/strawberry tongue/circumoral pallor
  • > delayed hypersensitivity to strep exotoxin
  • PANDAS
  • > paediatric autoimmune neuropsychiatric disorder associated with group A strep
  • > controversial existence/autoimmune basis
  • > temporal association with tic disorder/OCD
  • Fasciitis
  • > usually with predisposing trauma
  • > due to haematogenous spread
  • > spreads along fascia plane (poor blood supply)
  • > abrupt pain/erythema/bullae/systemically unwell
  • Abscess
  • > usually polymicrobial, including GAS
  • Toxic shock syndrome
  • > rare complication of shock with multi-organ failure
  • > due to inflam cytokines and increased cap permeability
  • Sinusitis
  • > common complication
  • Otitis media
  • common complication
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3
Q

HFM/Herpangina background

A

Epidemiology

  • both under school age
  • can occur in endemics

Aetiology

  • virology
  • > multiple serotypes of enterovirus species
  • > most common enterovirus species is enterovirus A
  • > most common group is coxsackie A and enterovirus

Pathophys

  • transmission
  • > oral ingestion
  • > predominately faecal or oral secretions
  • > some serotypes from vesicle or respiratory secretions
  • > contaminated food, water and fomites
  • > shed in stool for several months
  • > shed from oropharynx for weeks
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4
Q

Overview bloodspot screening diseases

A

Harry Potter MAGIC

hypothyroidism (primary congenital)

  • epidemiology
  • > 40 births/yr in NSW
  • aetiology
  • > dysgenesis (absence/abnormal thyroid gland)
  • pathophys
  • > growth retardation
  • > intellectual disability
  • management
  • > daily thyroxine

phenylketonuria (PKU)

  • epidemiology
  • > 10 births/yr in NSW
  • aetiology
  • > recessively inherited
  • > deficiency in phenylalanine hydroxylase
  • pathophys
  • > cannot break down amino acid phenylalanine
  • > severe intellectual disability
  • management
  • > low protein diet

medium chain acylCoa dehydrogenase deficiency

  • epidemiology
  • > 6 births/yr in NSW
  • aetiology
  • > inability to break down fat
  • pathophys
  • > coma and liver failure when seriously ill or fasted
  • > results in intellectual disability or death
  • management
  • > avoid fasting
  • > IV glucose when unwell

adrenal hyperplasia (congenital)

  • epidemiology
  • > 6 births/yr in NSW
  • aetiology
  • > genetic defect
  • > deficient in enzyme involved in cortisol biosynthesis
  • pathophys
  • > low cortisol
  • > increased ACTH
  • > adrenal gland hyperplasia
  • > high androgens and mineralocorticoids
  • > disordered regulation of metabolism, salt, response to infection, sex characteristics
  • management
  • > hormone replacement
  • > salt supplementation

galactocaemia

  • epidemiology
  • > 3 births/yr in NSW
  • aetiology
  • > deficiency in Gal-1-PUT
  • pathophys
  • > build up in galactose in blood
  • > liver failure and sepsis (potentially lethal)
  • > cirrhosis, renal tubular acidosis, cataracts, ID
  • management
  • > low galactose diet

inborn errors of metabolism (other rare)
-collectively account for approximately 20 births/year in NSW

cystic fibrosis

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5
Q

Neonatal sepsis background

A

Epidemiology

  • incidence increases with decreasing GA
  • Risk factors
  • > maternal GBS infection
  • > chorioamnionitis
  • > intrapartum maternal temp >38
  • > premature
  • > membrane rupture >18hrs
  • > metabolic disturbance (reduces immune function)

Aetiology

  • > GBS
  • > E. coli
  • > S. aureus (late onset sepsis)
  • > coagulase negative staph (premature infants)
  • > listeria monocytogenes (rare)
  • > herpes

Pathogenesis

  • vertical transmission (early onset)
  • > maternal genital tract
  • > contaminated amniotic fluid
  • horizontal transmission (late onset)
  • > contact with care provider and environment
  • > forceps and electrodes
  • > disruption of skin/mucosa (eg. canula)
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6
Q

Complications of prematurity

A

Mortality and morbidity rates increase with decreasing GA and birth weight

Short-Term =GRINCHES

  • glucose
  • respiratory
  • > RDS
  • > apnea of prematurity
  • intraventricular haemorrhage
  • NEC
  • cardiovascular
  • > PDA
  • > BP
  • hypothermia
  • eyes (retinopathy of prematurity)
  • sepsis

Medium-Term (infancy/early childhood) = BANGERS

  • bronchopulmonary dysplasia
  • abuse
  • neurodevelopmental
  • > developmental delay
  • > cognitive and social impairment
  • > psychiatric illness
  • > cerebral palsy
  • growth impairment
  • enteritis
  • respiratory infections
  • SIDS

Long-term = KIILO

  • kidney disease
  • insulin resistance
  • IHD
  • lung disease (chronic of prematurity)
  • obesity
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7
Q

RDS background

A

Epidemiology

  • over 90% of incidences RDS occur in extreme pre-term
  • still significant risk for late pre-term

Aetiology

  • Immature lungs
  • Low quantity/quality surfactant

Pathophys

  • Low quantity/quality surfactant
  • > atelectasis
  • > decreased compliance/ventilation
  • Pulmonary oedema and inflammation due to
  • > airway damage due to high pressures
  • > low eNAC expression = reduces alveolar fluid clearance
  • Pulmonary oedema
  • > worsens compliance/ventilation
  • Inflammation
  • > inactivates surfactant
  • Shunting
  • > atelectasis/vasoconstriction = high pulmonary pressures
  • > right to left shunting across FO/DA
  • Hypoxaemia
  • > due to poor ventilation/shunting
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8
Q

DDx constipation

A

Functional is most common

  • > ADHD
  • > ASD

Medical

  • > coeliac
  • > hypothyroid
  • > diabetes
  • > spinal cord pathology
  • > hypercalcaemia
  • > excessive cow milk
  • Surgical
  • > hirschprungs
  • > meconium ileus
  • > ano-rectal anomaly
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9
Q

Bronchiolitis background

A

Epidemiology

  • 1 in 30 under
  • only occurs in 0-1yr old

Aetiology

  • RSV (majority)
  • Rhino
  • Influenza
  • Coronavirus

Pathophys

  • Begins as URTI
  • > spreads to lower respiratory tract over 1-3 days
  • Infection of small airway
  • > inflammation
  • > oedema
  • > mucus secretion
  • Outcome
  • > obstruction
  • > hyperinflation
  • > wheezing
  • > atelectasis
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10
Q

DDx wheezing child

A
Bronchiolitis (if <1yr old)
Viral pneumonitis (if >1yr old)
Asthma (if >1 yr old)
Viral induced wheeze (if <6yrs old)
Foreign body aspiration
Mediastinal mass
CCHD
Pneumothorax
Pneumonia
Anxiety
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11
Q

1-12 months developmental milestones

A
6-8 weeks
GM: supports head
FM: tracks with eyes past midline
LH: orients eyes to sounds, coos
S: smiles

6 months
GM: sit with support, rolling
FM: transfers, hand to mouth, grasping
LH: head to sound, responds to name, different sounds on need
S: interested in people, recognises familiar faces

9 months
GM: crawls, stands with support, pulls to stand
FM: pincer grip
LH: understands no, babbling
S: stranger anxiety, favourite toy, peek a boo

12 months
GM: walks with support, cruises
FM: points, bangs objects together, should not prefer one hand
LH: mumma, dadda
S: waves, preference for caregiver, using objects

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12
Q

18 months - 5 years developmental milestones

A
18 months
GM: runs, throws
FM: scribbles vertically, handedness
LH: six words, can point to some body parts
S: uses spoon and cup, points to items

2 years
GM: stairs, kicks ball
FM: scribbles horizontally
LH: two word sentence, follow simple command
S: helps in dressing, parallel play, interest in children

3 years
GM: jumps, catches ball
FM: draws circle, use scissors
LH: 3 word sentences, name, age and sex, some colours
S: dresses with supervision, interactive play, makes friends

4 years
GM: hopping
FM: draws square
LH: 4 word sentences, asks why and how
S: imaginative play, toilet trained, dresses self
5 years
GM: skips
FM: draws triangle
LH: 5 word sentence, fluent speech, tells stories
S: understands rules, sense of humour
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13
Q

DDx stridor

A

Supraglottic

  • Epiglotitis
  • Foreign body
  • Tonsilar enlargement
  • Retropharyngeal abscess

Glottic

  • Anaphylaxis
  • Croup
  • Laryngospasm
  • Diptheria

Infraglottic

  • Bacterial tracheitis
  • Tracheomalacia
  • Foreign body
  • Vascular rings
  • Tumour
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14
Q

Croup background

A

Epidemiology
-6 months to 6 years old

Aetiology

  • RSV most common
  • Other
  • > influenza
  • > parainfluenza
  • > coronavirus

Pathophys

  • Laryngotracheobronchitis
  • > upper airway inflammation
  • > obstruction
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15
Q

Whooping cough background

A

Epidemiology

  • Highest incidence <6 months
  • > decreases with age

Aetiology

  • Organism
  • > bordetella pertussis
  • > occasionally bordetella parapertussis
  • Transmission
  • > aerosol droplets
  • > highly infectious
  • > 80% household contacts develop clinical illness
  • > infectious just before and for 3 weeks post cough
  • Vaccination
  • > illness still occurs but generally less severe

Pathophys

  • Catarrhal stage
  • > 1-2 weeks
  • Paroxysmal stage
  • > approx 6 weeks
  • Convalescent stage
  • > 2-3 weeks
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16
Q

Gastroenteritis background

A

Epidemiology
-occurs in almost all children <5years

Aetiology

  • Viral (over 75%)
  • > rotavirus most common
  • > astrovirus
  • > adenovirus
  • > norovirus

Pathophys

  • Transmission
  • > faecal-oral
  • > rotavirus may spread by respiratory droplets
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17
Q

Gastroenteritis DDx

A

Infective

  • Viral
  • Bacterial
  • > e coli
  • > salmonella
  • > campylobacter
  • > shigella
  • > vibrio cholera
  • > staph aureus
  • Protozoal
  • > giardia
  • > entamoeba histolytica

Antibiotic

  • Adverse effect
  • Pseudomembranous colitis
  • > c difficile

Intussecpition

Appendicitis

Coeliac

Cystic fibrosis

Inflammatory

  • Crohns
  • UC

UTI

Sepsis

Hypoglycaemic ketosis

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18
Q

Intussusception background

A

Epidemiology
-75% of incidence before 12 months

Aetiology

  • Idiopathic
  • > previous viral infection
  • > hyperplasia of peyers patches/lymphoid tissue
  • Pathological
  • > tumours
  • > polyps
  • > meckels
  • > HSP

Pathophys

  • Telescoping
  • > lead point moves into distal bowel lumen
  • Regions
  • > ileocolic most common
  • > ileoileo
  • > colocolonic
  • Outcome
  • > mesentery dragged in = venous congestion
  • > ischaemia/necrosis/perforation
  • > obstruction
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19
Q

DDx seizure

A

Benign

  • Daydreaming
  • Syncope
  • Breath holding spell
  • Reflex anoxic seizures
  • Rigors

Neuro

  • Migraine
  • Dystonia
  • Fasciculations

Psych

  • Pseudoseizure
  • Panic attack
  • Tics
  • Muchausen
20
Q

Febrile seizure background

A

Epidemiology

  • approx 5-10% children
  • peak incidence 6 months to 6 years
  • epilepsy
  • > develops in 1% if no risk factors (population risk)
  • > up to 10% if risk factors
  • recurrence
  • > 30% of children
  • > almost always occur within 2 years

Aetiology

  • Viral infections most common
  • Bacteraemia rare

Pathophys

  • Simple
  • > generalised tonic clonic
  • > no focal features
  • > less than 10 mins
  • > complete recovery within 1 hr
  • > no recurrence within 24hrs/same febrile illness
  • Complex
  • > focal onset/features
  • > prolonged 10-15mins
  • > complete recovery within 1 hr
  • > recurrence within 24hrs/same febrile illness
21
Q

Afebrile seizure background

A

Epidemiology

  • approx 5% of children <5 years have afebrile seizure
  • > 30% experience recurrence
  • > approx 5% develop epilepsy

Aetiology

  • Genetic (epilepsy syndromes)
  • > benign rolandic
  • > drevet syndrome
  • > juvenile myoclonic
  • > lennox gaustraux
  • > childhood absence
  • Structural/metabolic
  • > virtually any insult

Pathophys

  • Focal
  • > with impaired/intact awareness + specific semiology
  • > motor (automatisms/jacksonian march/vocalisation)
  • > sensory (vertigo/paraesthesia/any of five senses)
  • > autonomic (epigastric rising/piloerection/sweating/pupil)
  • > cognitive/emotive (dejavu/hallucinations/anxiety)
  • Generalised
  • > absence or motor
  • > tonic clonic
  • > tonic/clonic
  • > myoclonic
  • > atonic
  • Epilepsy
  • > 2 unprovoked within 24hrs
  • > 1 unprovoked + similar risk of recurrence in next 10 years
22
Q

Otitis media background

A

Epidemiology

  • over 80% incidence before 2 years old
  • risk factors
  • > daycare
  • > older siblings
  • > passive smoking
  • > no breastfeeding
  • > bottle feeding supine
  • > dummy use

Aetiology

  • Mostly viral
  • Bacterial
  • > strep pneumoniae
  • > haemophilus
  • > moraxella

Pathophys

  • Often post viral infection
  • > loss of eustachian tube mucociliary action
  • > unable to clear nasopharyngeal flora from middle ear
  • Middle ear effusion
  • > supportive media for bacterial growth
  • > becomes suppurative
  • Increased middle ear pressure
  • > pain
  • > perforation of tympanic membrane
  • Complications
  • > mastoiditis
  • > otitis media with effusion
  • > intracranial spread
  • > atelectasis of TM
  • > cholesteatoma
23
Q

Kawasaki background

A

Epidemiology

  • almost exclusively children
  • > 6 months to 6 years
  • approx 1/1,000

Aetiology

  • Infection in genetically susceptible host
  • > causative virus/bacteria unknown
  • > genetic variants in Ig and T cell receptors
  • Systemic vasculitis
  • Coronary artery disease
  • > occurs in 1/4 untreated patients
  • > leads to aneurysm/MI/sudden death

Pathophys

  • Acute febrile stage
  • > 1-2 weeks
  • > typical symptoms
  • Subacute stage
  • > 2-4 weeks
  • > symptoms resolving
  • > desquamation begins
  • > coronary artery ectasia/aneurysm may develop
  • Convalescent stage
  • > 4-8 weeks
  • > all inflammatory signs/markers normal
  • > coronary disease may persist
  • Chronic
  • > variable
  • > coronary disease may resolve
  • > complications may occur (MI/rupture/thrombosis)
24
Q

HSP background

A

Epidemiology

  • most common vasculitis in kids
  • most common under age school age
  • male predominance
  • rarely occurs in summer

Aetiology

  • autoimmune
  • often preceded by URTI

Pathophys

  • IgA immune complexes disease
  • vessels wall deposition
  • > IgA
  • > C3
  • > fibrin
  • > monocyte and neutrophils predominate
  • purpuric skin
  • > involvement of small vessels of dermis
  • kidney
  • > endothelial and mesangial deposition
25
Q

DDx Kawasaki

A
Sepsis/STSS
GAS
->scarlet fever
->rheumatic fever
EBV
Adenovirus
Measles
Systemic juvenile arthritis 
SJS
Drug reaction
26
Q

Ddx purpura + fever

A

Infection

  • Viral
  • > enterovirus
  • > influenza
  • Bacterial
  • > meningococcal
  • > strep pneumonia
  • > haemophilus influenza

Autoimmune

  • HSP
  • ITP

Malignancy
-Leukaemia

27
Q

Meningitis background

A

Epidemiology
-decreasing incidence of bacterial with vaccines

Aetiology

  • Bacterial
  • > strep pneumoniae
  • > neisseria meningiditis
  • > haemophilus influenzae
  • > GBS (neonates)
  • > e coli (neonates)
  • Viral
  • > enterovirus
  • > HSV
  • > mumps
  • > west nile
  • > HIV

Pathophys

  • Meningitis
  • > inflammation of meninges
  • > porous BBB and cerebral oedema
  • Encephalitis
  • > inflammation of parenchyma
  • > HSV infection
28
Q

Sepsis organisms

A

Neonate

  • E coli
  • GBS
  • HSV
  • Listeria (rare)

Children

  • Neisseria
  • Strep pneumonia
  • GAS
  • Staph aureus
29
Q

UTI background

A

Epidemiology

  • By 8yrs
  • > 8% of girls
  • > 2% of boys
  • Risk factors
  • > uncircumcised
  • > no breastfeeding
  • > bladder dysfunction

Aetiology

  • Simple
  • > e coli
  • > staph saprophyticus
  • > staph aureus
  • > proteus
  • Complicated
  • > pseudomonas
  • > klebsiella
  • > staph epidermidits

Pathophys

  • Colonisation of urethra
  • Cystitis
  • > ascending infection
  • > urine pooling (neurogenic/catheter/constipation/obstruction)
  • Pyelonephritis
  • > vesicoureteric reflux
30
Q

Jaundice background

A

Epidemiology

  • Term babies
  • > 60%
  • Premature babies
  • > 80%
  • Risk factors
  • > male
  • > asian
  • > maternal diabetes
  • > premature
  • > low birth weight
  • > decreased caloric intake/weight loss
  • > breast feeding

Aetiology

  • Unconjugated
  • > physiological (2-3 weeks)
  • > breast milk (prolonged)
  • > sepsis
  • > extravasation (polycythaemia/cephalohaematoma)
  • > ABO/Rh incompability
  • > haemolytic anaemia (G6PD/thalassaemia)
  • > hypothyroid
  • > GIT obstruction (pyloric stenosis/hirschprungs/ileus)
  • > conjugation (crigler najjar/gilberts)
  • Conjugated
  • > biliary atresia
  • > hepatitis (infection/idiopathic/alpha 1 anti-trypsin)
  • > metabolic (galactosaemia/fructose intolerance)
  • > TPN

Pathophys

  • Physiological
  • > more RBCs
  • > shorter RBC life span (approx 80 days)
  • > UGT1A1 activity very low until about 2 weeks
  • > sterile gut
  • Acute bilirubin encephalopathy
  • > high levels of unbound/unconjugated bilirubin
  • > cross BBB and bind to basal ganglia/sub cortical nuclei
  • > mitochondrial injury and neurological impairement
  • Chronic bilirubin encephalopathy
  • > kernicterus is pathological hallmark
  • > yellowing of basal ganglia/hippocampus/cerebellum
31
Q

Type 1 diabetes background

A

Epidemiology

  • up to 10% of diabetes cases
  • majority of diabetes in children

Aetiology

  • Genetic
  • > HLA-DR/DQ polymorphism
  • Environmental
  • > enterovirus infection
  • > low vitamin D

Pathophys

  • Pancreatic beta islet cell destruction
  • > immune mediated
  • > no role for insulin resistance
  • Microvascular
  • > retinopathy
  • > nephropathy
  • > neuropathy
  • Macrovascular
  • > PVD
  • > CAH
  • > stroke
32
Q

Failure to thrive background

A

Epidemiology
-by definition 5% of population

Aetiology

  • Poor nutrition
  • > limited access (poverty)
  • > breast feeding difficulty
  • > poor nutritional knowledge (vegan/low fat)
  • > poor parental feeding skills
  • Psychosocial
  • > substance use
  • > carer mental health
  • > attachment/neglect/abuse
  • Poor intake
  • > poor appetite (illness)
  • > poor feeding (CLP/CP/GORD)
  • Increased demand
  • > UTI
  • > CHD
  • > diabetes
  • > hyperthyroidism
  • > IEM
  • Increased loss
  • > coeliac
  • > persistant vomiting/diarrhoea

Pathophys

  • Definition
  • > weight/BMI <5th centile
  • > crossing two centile lines
  • Waterlow criteria (weight for length)
  • > mild >80%
  • > moderate = 70-80%
  • > severe <70%
33
Q

Crohn’s background

A

Epidemiology

  • Prevalence
  • > less than 0.5%
  • Peak onset
  • > teenage to middle age
  • > retirement age

Aetiology

  • Genes
  • > most of genetic loci undetermined
  • Environmental
  • > smoking
  • > OCP
  • > high sugar diet
  • > measles

Pathophys

  • Bowel wall inflammation
  • > full thickness
  • > caseating granulomas
  • > involvement of mesentery
  • Surface
  • > oedema + hyperaemia
  • > cobblestoning (longitudinal + transverse ulcers)
  • Distribution
  • > mouth to anus
  • > skip lesions
  • Complications
  • > bowel obstructions + perforation
  • > strictures
  • > fistulas + sinus tracts + abscesses
  • > malabsorption + dehydration + vitamin deficiency
  • > steatorrhoea + gallstones + fat soluble vitamin deficient
  • > steatorrhoea + calcium binding + oxolate stones
34
Q

Extra-intestinal manifestations IBD

A

Eye-BD Has Peripheral Manifestations

  • Eyes
  • > uveitis
  • > episcleritis
  • Blood
  • > autoimmune haemolytic anaemia
  • Dermatology
  • > pyoderma gangrenosa
  • > erythema nodosum
  • Hepatic
  • > autoimmune hepatitis
  • > primary sclerosing cholangitis
  • Pulmonary
  • > interstitial disease
  • Musculoskeletal
  • > spondyloarthropathy
  • > osteoporosis
  • > osteonecrosis
35
Q

Ulcerative colitis background

A

Epidemiology

  • Prevalence
  • > less than 0.1%
  • Peak onset
  • > teenage to middle age
  • > retirement age

Aetiology

  • Genes
  • > HLAB27
  • Environmental
  • > not smoking

Pathophys

  • Bowel wall inflammation
  • > usually involves rectum (proctitis when limited)
  • > backwash ileitis
  • > limited to mucosa
  • Mucosa
  • > polyps + pseudopolyps
  • > crypt abscesses
  • Severity
  • > mild <4 stools +- blood
  • > moderate >4 stools + limited toxicity
  • > severe >6 stools + toxicity (fever/anaemia/ESR)
36
Q

Congenital heart disease background

A

Epidemiology

  • most common congenital defect
  • less than 1% of all live births
  • risk factors
  • > prematurity
  • > family hx
  • > genetic disorder
  • > maternal diabetes/obesity
  • > maternal exposure (drugs/alcohol/smoking/phenytoin)
  • > in utero infection (TORCH)

Aetiology (5 T’s and heart failure)

  • Transposition of the great arteries
  • > aorta from RV/pulmonary trunk from LV
  • > two parallel circuits
  • TOF
  • > over-riding aorta
  • > VSD
  • > RV hypertrophy
  • > pulmonary trunk stenosis
  • Total anomalous venous return
  • > pulmonary veins don’t drain into RA
  • > connect to vena cava/coronary sinus/portal vein
  • Truncus arteriosus
  • > single outflow vessel
  • Tricuspid atresia
  • > no RA/RV communication
  • > right to left shunt through PFO
  • Heart failure (CHIC)
  • > coarctation of the aorta
  • > hypoplastic left heart syndrome
  • > interrupted aortic arch
  • > critical aortic valve stenosis

Pathophys

  • Left to right shunt
  • > VSD/ASD/PDA
  • > increased pulmonary flow and acyanotic
  • Right to left shunt
  • > decreased pulmonary flow and cyanotic
  • > terrible T’s
37
Q

Newborn heart murmur ddx

A

Under 6 hrs

  • Valve regurgitation
  • > tricuspid
  • > mitral
  • Valve stenosis
  • > pulmonary
  • > aortic

After 6 hrs

  • PDA
  • > almost all close by 48hrs
  • VSD
  • > as pulmonary vascular resistance decreases
  • > not usually present in first few hours of life
  • Coarctation
  • > decreases as collaterals develop
  • Any congenital heart defect

Over 1 year

  • Innocent Still
  • > left lower sternal border + apex
  • > systolic
  • > resolves by adolescence
  • Cervical venous hum
  • > left or right upper sternal border
  • > loudest while seated with head extended
  • ASD
  • > left upper sternal border holosystolic
  • MR
  • > rheumatic fever
  • > kawasaki
  • > myocarditis/endocarditis
  • Bicuspid aortic valve
  • > ejection click + AS at apex
38
Q

ASD background

A

Prevalence

  • 1% population
  • 3 to 4 x male predominance

Risk factors

  • male sex
  • sibling with ASD
  • poor perinatal or maternal health
  • maternal medications (valproate)
  • advanced parental age
  • genetic disorders (tuberous sclerosis)

Pathogenesis

  • heritability 30-90%
  • epigenetic theory
  • mostly polygenic
  • > no gene accounts for >1% of cases
  • predominately due to abnormal neural connectivity
39
Q

ADHD background

A

Epidemiology

  • approx 5% adults
  • far more common in boys

Aetiology

  • Genetics
  • > heritability 70%
  • > many genes related to dopamine receptor
  • Environmental
  • > childhood adversity
  • > low birth weight
  • > antenatal and perinatal complications

Pathophys

  • Neurobiology
  • > decreased frontal cortex volume
  • > down regulated dopamine and norad
  • Comorbid
  • > anxiety
  • > depression and bipolar
  • > substance use
  • > ASD
40
Q

ID background

A

Epidemiology

  • 1% of children have cognitive impairment
  • 10% of children have specific learning difficulty

Aetiology

  • Genetic
  • > fragile x
  • > tuberous sclerosis
  • > trisomy
  • Neurological
  • > ADHD
  • > ASD
  • CNS injury
  • > encephalitis/meningitis
  • > tumour
  • > TBI
  • > absence epilepsy
  • Intra-uterine
  • > fetal alcohol spectrum disorder
  • > maternal exposures

Pathophys

  • Cognitive impairment
  • > IQ <70
  • Specific learning difficulty
  • > normal IQ
  • > dyslexia
  • > dyscalculia
  • > specific language impairment
41
Q

CP background

A

Epidemiology

  • Incidence per 1,000
  • > 2 for singletons
  • > 12 for twins
  • > 44 for triplets

Aetiology

  • Antenatal (most common)
  • > prematurity
  • > multiple pregnancy
  • > TORCH infections
  • > iodine deficiency
  • > teratogen exposure
  • > genetic disorder
  • > inborn error metabolism
  • Perinatal
  • > birth asphyxia
  • > birth trauma
  • > abruption
  • > uterine rupture
  • Post natal
  • > jaundice
  • > sepsis
  • > meningitis
  • > RDS
  • > ICH
  • > shaken baby
  • > seizures

Pathophys

  • Brain insult
  • > selective vulnerability during end of second trimester
  • > periventricular white mater damage
  • > classically non progressive
  • Spastic
  • > damage to vestivular or retinacular nuclei/tracts
  • > damage to primary motor or corticospinal tract
  • Dyskinetic
  • > damage to basal ganglia
  • Ataxia
  • > damage to cerebellar nuclei/tracts
42
Q

CF background

A

Epidemiology

  • 1 in 3,000
  • more common in europeans

Aetiology

  • CFTR mutation
  • > delta 508 mutation most common
  • > autosomal recessive

Pathophys

  • CFTR protein
  • > pumps Cl into lung/GI/pancreatic secretions
  • > draws Cl from sweat
  • Bowel
  • > meconium ileus
  • > obstruction
  • Pancreas
  • > obstruction and autodigestion
  • > acute/chronic pancreatitis
  • > insulin dependent diabetes
  • Lungs
  • > impaired mucociliary apparatus function
  • > recurrent pneumonia/bronchitis
  • > bronchiectasis
  • Infertility
  • > males lack vas deferens
  • Allergic bronchopulmonary aspergillosus
  • > hypersensitivity reaction
43
Q

Coeliac background

A

Epidemiology
-approx 1%

Aetiology

  • MHC molecules
  • > HLA-DQ2 and DQ8

Pathophys

  • Autoimmune
  • > loss of immune tolerance to gluten peptides
  • > wheat/rhye/barley
  • MHC molecules
  • > present gluten peptide to T cells
  • > villous atrophy + crypt hyperplasia
44
Q

IM background

A

Epidemiology

  • EBV
  • > more than 90% of adults are seropositive
  • > rarely clinical disease in children
  • peak risk in young adult range
  • much more common in caucasians

Aetiology

  • Infectious mononucleosis
  • > 90% cases EBV
  • remainder
  • > HHV5
  • > HHV6
  • > HSV1

Pathophys

  • transmission
  • > saliva (median = 6 months post infection)
  • > possibly sexual
  • > possibly breastfeeding
  • infection of B cells in oropharynx
  • > circulating B cells infect liver, spleen, lymph nodes
  • > lytic replication
  • incubation period 1-2 months
  • humoral response
  • > viral antigen related antibodies
  • > unrelated antigens (found on horse/sheep RBCs)
  • T cell response
  • > controls initial lytic infection
  • > determines clinical picture
  • latency
  • > viral genome as extrachromosomal episomes
  • > memory B cells
  • > immune avoidance in germinal centres
  • > low level replication
  • neoplasia
  • > immortality of B cell lineages
45
Q

Acute rheumatic fever background

A

Epidemiology

  • rare in adults
  • rare in developed country
  • > ATSI

Aetiology

  • Autoimmune
  • > post GAS pharyngitis
  • > molecular mimicry with cross-reactive antibodies

Jones criteria

  • Overall
  • > evidence of infection
  • > two major
  • > one major + two minor
  • > different criteria for high risk populations
  • Evidence of GAS infection
  • > rising anti-streptolysin O titre
  • > positive rapid GAS carbohydrate antigen test
  • > positive throat culture
  • Major criteria (JONES)
  • > joints (polyarthritis
  • > carditis
  • > nodules (subcutaneous)
  • > erythema marginatum
  • > sydnenham chorea
  • Minor (TAPE)
  • > temperature
  • > arthralgia (unless arthritis)
  • > prolonged PR (unless carditis)
  • > ESR/CRP
46
Q

Background BRUE

A

Epidemiology
-less than 12 months old

Aetiology (ddx)

  • Airway
  • > foreign body
  • > laryngospasm
  • Cardiac
  • > CHD
  • > arrhythmia
  • > vascular ring
  • Abdominal
  • > intussecpition
  • > testicular torsion
  • > strangulated hernia
  • Infection
  • > pertussis
  • > sepsis
  • > pneumonia
  • > meningitis
  • Metabolic
  • > hypoglycaemia
  • Toxin ingestion
  • Abuse

Pathophys

  • Event
  • > marked change in breathing/colour/tone/alertness
  • > duration <1 minute
  • > complete return to baseline
  • > unexplained by medical cause
  • Cause
  • > unknown
  • > likely exaggerated airway reflexes
  • > usually related to feeding/reflux/secretions