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Anki 3a exports > paediatrics anki 3 > Flashcards

paediatrics anki 3 Flashcards

1
Q

What is androgen insensitivity syndrome?

A

X linked recessive condition due to end organ resistance to testosterone causing genotypically male children(46XY) to have a female phenotype

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2
Q

What causes androgen insensitivity syndrome?

A

Mutation in the androgen receptor gene on the X chromosome-> extra androgens converted into oestrogen-> female secondary characteristics

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3
Q

What is partial androgen insensitivity syndrome?

A

Cells have a partial response to androgens

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4
Q

What are patient with androgen insensitivity syndrome at increased risk of and why?

A

Testicular cancer due to undescended testes

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5
Q

What causes Fragile X syndrome?

A

GeneticsMutation in FMR1 gene located on the X chromosome

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6
Q

What is Kawasaki disease?

A

System, medium sized vasculitis that predominantly affects children

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7
Q

What is a key feature of kawasaki disease?

A

Persisten high grade fever (>39 degrees) for more than 5 days

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8
Q

What are the typical skin findings you might see in a patient with Kawasaki disease?

A

Widespread ethythematous maculopapular rash and desquamation (skin peeling) on palms and soles

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9
Q

What investigations might be done to diagnose a child with suspected Kawasaki disease?

A

Typically clinical diagnosisFBC: anaemia, leukocytosis and thrombocytosisLFT’s: hypoalbuminaemia and elevated liver enzymesHIGH ESR, may have other raised inflammatory markersUrinalysis: raised WC without infectionEcho: coronary artery pathologu

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10
Q

What is the main complication of Kawasaki’s disease?

A

Coronary artery aneurysm-monitor with echos

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11
Q

What is measles?

A

Highly contagious disease caused by the measles morbillvirus

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12
Q

What are Koplik spots?

A

Small grey discolourations of the muscoal membranes in the mouth, characteristic of measles

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13
Q

What investigations should be done for suspected measles?

A

Measles specific IgM and IgG serology(ELISA) within a few days of rash onsetMeasles RNA detection by PCR

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14
Q

What is chicken pox and what is it caused by?

A

acute infectious disease caused by the varicella-zoster virus (VZV), a member of the human herpes virus family. HHV3

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15
Q

What is the incubation period of chicken pox?

A

10-21 days

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16
Q

What is the infectivity period of someone with chicken pox?

A

4 days before rash until 5 days after rash appears

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17
Q

What are the clinical features of chicken pox?

A

Fever initiallyItchy rash which starts on head/trunk and spreads. Begins as a macular then papular then vesicularMild fever, fatigue, loss of appetite and general discomfort

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18
Q

What are some differential diagnoses for chicken pox?

A

Herpes simplexHand, foot and mouth diseaseScabies

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19
Q

What is the most common complication of chicken pox?

A

Secondary bacterial infeciton of the lesions due to scratching

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20
Q

What can secondary bacterial infection of chickenpox rash result in?

A

Invasive group A streptococcal soft tissue infection-> necrotizing fascitis

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21
Q

What are some complications of chicken pox?

A

Secondary bacterial skin infections due to scratchingPneumonia (more common in adults)Encephalitis (rare)Reye’s syndrome (a severe complication, primarily in children)Congenital varicella syndrome (if infection occurs during early pregnancy)Reactivation of the virus as herpes zoster (shingles) later in life

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22
Q

What is Reye’s syndrome?

A

Rare but serious condition that affects children and teenagers recovering from a viral infectionSwelling in liver and brain->vomiting, confusion, seizures and LOC

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23
Q

What is rubella caused by?

A

Rubella togavirus

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24
Q

What is the incubation period for rubella?

A

14-21 days

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25
Q

What is the main complication that can arise from rubella in unvaccinated pregnant women?

A

Congenital rubella syndrome-fetal anomalies such as:CataractsDeaffnessPatent ductus arteriosusBrain damage

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26
Q

What causes diphtheria?

A

Gram positive bacterium Corynobacterium diphtaeriae

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27
Q

What does a sore throat with a diphtheric membrane look like?

A

Grey, pseudomembran on posterior pharyngeal wall

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28
Q

What is scalded skin syndrome?

A

Severe desquamating rash that primarily affects infants

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29
Q

Pathophysiology of staphylococcal scalded skin syndrome :Production of {{c1::exfoliative exotoxin}} by {{c2::Staph aureus}}Splits {{c3::epidermis}} in the {{c4::granular layer}}, scpecifically targeting {{c5::desmoglein 1}}

A
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30
Q

What causes whooping cough?

A

Bordatella pertussis-gram negative bacterium

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31
Q

What are the different phases of whooping cough?

A

Catarrhal phase:Viral infection symtpoms, last 1-2 weeksParoxysmal phase:Cough increases in severity, 2-8 weeksConvalescent phase:Cough subsides over weeks to months

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32
Q

What causes the inspiratory whoop in whooping cough?

A

Forced inspiration agaist a closed glottis

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33
Q

What factors might make coughing bouts worse in patients with whooping cough?

A

Usually worse at night and after feeing

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34
Q

What are some differential diagnoses for whooping cough

A

Bronchiolitis: Characterised by cough, wheezing, and shortness of breath, with or without fever. More common in children less than two years of age.Asthma: Symptoms include recurrent episodes of wheezing, coughing, chest tightness, and shortness of breath.Pneumonia: Presents with cough, fever, and difficulty breathing. In severe cases, cyanosis may occur.Foreign body aspiration: May cause sudden onset of coughing, choking, and wheezing. In some cases, symptoms may be less acute, mimicking other conditions.

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35
Q

What investigations might be done in a patient with whooping cough?

A

Complete blood count: May show leukocytosis with lymphocytosis.Polymerase chain reaction (PCR) testing: Highly sensitive and specific test for diagnosis.Culture of nasopharyngeal swab: Gold standard but less sensitive than PCR.

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36
Q

What is the diagnostic criteria for whooping cough?

A

Acute cough that has lasted at least 14 days and >=1 of:Paroxysmal coughInspiratory whoopPost-tussive vomitingUndiagnosed apnoeic attackes in young infants

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37
Q

What are some ocmplications of whooping cough

A

Subconjunctival heamorrhagePneumoniaBronchiectasisSeizures

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38
Q

What are the most common causes of meningitis in neonates to 3 month olds?

A

Group B strep-usually acquired at birthE.Coli and other gram negative organismsListeria monocytogenes

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39
Q

What are the most common causative organisms of meningitis in 1 month to 6 year old?

A

Neisseria meningitidisStrep pneumonieaH.influenzae

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40
Q

What are the most common causative organisms of meningitis in children over 6 years old?

A

Neisseria meningitidisStreptococcus pneumoniea

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41
Q

What is the most common fungal causative organism of meningitis?

A

Cryptococcus neoformans

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42
Q

What are some contraindications to doing a LP?

A

Signs of raised ICP:Focal neurological signsPapilloedemaSignificant bulging of the fontanelleDIC/meningococcal sepcitcaemiaSigns of cerebral herniation

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43
Q

What investigation should be done in patients with meningococcal scepticaemia?

A

Blood cultures and PCR for meningococcus NOT LP

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44
Q

What are some differential diagnoses for meningitis?

A

Encephalitis: Characterized by altered mental status, fever, and early seizures. However, unlike meningitis, it primarily involves the brain parenchyma rather than the meninges.Subarachnoid hemorrhage: Presents with a sudden, severe headache (“worst headache of life”), nausea, vomiting, and loss of consciousness. However, fever and neck stiffness, common in meningitis, are usually absent.

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45
Q

What antibiotic prophylaxis is given to contacts of those with meningitis?

A

Ciprofloxacin

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46
Q

What is slapped cheek syndrome also known as?

A

Fifth diseaseEryhtema infectiosum

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47
Q

What causes Fifth disease?

A

Parvovirus B19

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48
Q

What does the parvovirus B19 target and what does this cause?

A

Erythroid progenitor cells->haematological complications

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49
Q

What happens to the slapped cheek rash over time?

A

Tends to go by itself, byt can be retriggered by heat,f ever, sunlight or a warm bath for some time after

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50
Q

What advice should a pregnant woman be given if exposed to fifthe disease?

A

Can affect unborn baby in first 20 weeksCheck IgM and IgG(maternal)

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51
Q

What complications might arise from Fifth’s disease?

A

Red cell aplasia-aplastic crisis especially unvulnerable groups(sickle cell, hereditary spherocytosis)Severe foetal anaemiaCardiomyopathy

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52
Q

What is pneumonia?

A

Infection of the lower respiratory tract and lung parenchyma resulting in consolidation and impaired gas exchange

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53
Q

What is an important cause of penumonia that should be considered in all ages?

A

Mycobacterium tuberculosis

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54
Q

What are the symptoms of pneumonia in children that point towards a bacterial infection?

A

Localised chest and abdominal painNeck pain-> signs of pleural irritation

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55
Q

Name some signs of pneumonia in children?

A

Tachypnoea, nasal flaring, chest indrawing, hypoxiaDullness on percussion, decreased breath sounds, bronchial breathingEnd-inspiratory respiratory coarse cracklesWheeze and hyperinflation->viral infection

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56
Q

What investigations might be done to diagnose pneumonia in children?

A

CXR: consolidation, parapneumonic effusion, empyemaNasopharyngeal aspirate in younger children to ID viral causes

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57
Q

What is asthma?

A

Common, long term inflammatory disease of the airways characterised by reversible airway obstruction and bronchospasm

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58
Q

What investigations might be used to diagnose asthma?

A

SpriometryFeNO levelsPEFR to look at day to day variability and diurnal variabilityCXR to rule out other causesSkin prick testing for allergens->atopy and identify triggers

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59
Q

What is an LTRA and give an example

A

Leukotriene receptor antagonistMontelukaus

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60
Q

What are the features of moderate acute asthma?

A

O2>92%Peak flow: >50% predictedNo symptoms of severe asthma

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61
Q

What is croup?

A

Also called laryngotracheobronchitisInflammation and swelling of larynx, trachea and bronchi leading to partial obstruction or the upper airway.Particularly leads to oedema of the subglottic area resulting in narrowing of the trachea

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62
Q

What is the most common cause of croup?

A

Parainfluenza virus

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63
Q

What are some causes of croup?

A

Parainfluenza virusAdenovirusInfluenzaRSVBacterial causes are less common but more severe

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64
Q

What are some of the broad features of croup?

A

1-4 days history of non-specific rinorrhoea, fever and barking coughWorse at nightStridorTachypnoeaDescreased bilateral air entryCostal recession

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65
Q

What investigations might be used to diagnose croup?

A

FBC, CRP, U&EsViral PCR to ID virusCXR: ‘steeple sign’ and excludes foreign body aspiration as differential

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66
Q

What are some differentials for croup?

A

Epiglottitis->no barking coughForeign body aspirationBacterial tracheitis-> high fever, severe respiratory distressAsthma

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67
Q

What age group is most likely to be admitted for croup and why?

A

<12 months as they already have a narrower airway

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68
Q

What is the treatment for bacterial tracheitis?

A

IV antibioticsIntubation and ventilation if required

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69
Q

What is bronchiolitis?

A

Viral infection of the bronchioles that causes inflammation and congestion

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70
Q

What age group does bronchiolitis mostly affect?

A

1-9 months

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71
Q

What are the indications for a non-urgen admission in a patient with bronchiolitis?

A

Respiratory rate >60Clinical dehydration

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72
Q

What are the indications for an urgent admission in a patient with bronchiolitis?

A

ApnoeaRepsiratory rate >70Central cyanosisSPO2<92%

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73
Q

What is the prophylaxis for bronchiolitis?

A

Palvizumab vaccine 

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74
Q

What is the main complication of bronchiolitis?

A

Bronchiolitis obliterans(popcorn lung)

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75
Q

What investigations might be done in patients with suspected bronchiolitis obliterans?

A

CXRCTBiopsyPulmonary function tests<FEV1

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76
Q

What is cyctic fibrosis?

A

Progressive, autosomal recessive disorder that cuases persistent lung infections and limits the ability to breathe over time

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77
Q

What group of people is cystic fibrosis most common in?

A

Caucasians-1/25 people in UK have mutation

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78
Q

What is acute epiglottitis?

A

Rapidly progressing infection that leads to inflammation of the epiglottis and adjacent tissue-> blockage of upper airway-> death

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79
Q

What age is most affected by acute epiglottitis?

A

Age 1-6 years

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80
Q

What causes acute epiglottitis?

A

Haemophilius Influenzae type B

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81
Q

What investigations might be done in a patient with suspected acute epiglottitis?

A

DO NOT EXAMINE THROAT-> risk of triggering airway obstructionInvolve senior clinicians-> direct visualisation of inflamed epiglottis-done using laryngoscopy  after securing airwayX-ray-> lateral: thumb sign, posterior: anterior steeple Cultures: ID causative organism

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82
Q

What condition can viral induced wheeze in childhood put you at higher risk of in later life?

A

Asthma

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83
Q

What age group is most affected by viral induced wheeze?

A

~< 3 years

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84
Q

What is the difference between viral induced wheeze and asthma?

A

Viral induced wheeze:<3 yearsNo history of atopyOnly occurs during viral infections

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85
Q

What is the difference between an episodic wheeze and a mutliple trigger wheeze?

A

Episodic wheeze: symptoms of viral URTI, symptom free between eventsMultiple trigger wheeze: URTI and other factors trigger wheeze

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86
Q

What is otitis media?

A

Infection of the middle ear

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87
Q

What causes otitis media?

A

Most commonly bacteria:S.pneumoniae, H.influenzae, heamolytic streptococcusViruses:RSV, corona, denovirus, rhinovirus

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88
Q

What are the different types of otitis media?

A

Acute otitis mediaAcute otitis media with effusion(becomes chronic)Chronic otitis mediaChronic secretory otitis media(glue ear)Chronic suppurative otitis media

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89
Q

What investigations might be done in a patient with suspected glue ear?

A

Clinical->physical exam of tympanic membrane through otoscopyTympanometry(pressure)Assess presence of systemic illness

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90
Q

What are the indications for admitting a patietn with otitis media to hospital?

A

<3 months and temperature >38 degreesSuspected complications-> meningitis, mastoiditis, facial nerve palsy etcSystemically unwell or increased risk of complication

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91
Q

What antibiotics are used to treat otitis media?

A

Amoxicillin for 5-7 daysIf no imrpovement: co-amoxiclav

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92
Q

What is otitis media with effusion?

A

Glue earInfection and inflammation or the middle ear resulting in the accumulation of lfuid

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93
Q

What can otitis media with effusion result in?

A

Hearing loss, speech and language delays, bheavioural issues due to blockage of the eustachian tube

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94
Q

What is periorbital cellulitis?

A

Infection of the soft tissues anterior to the orbital septum-includes eyelids, skin and SC tissue of face, NOT contents of orbit

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95
Q

What is orbital cellulitis?

A

Serious infection of the soft tissues behind the orbital septumLife threatening: usually bacterial sinusitis

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96
Q

What is the difference between periorbital cellulitis and orbital cellulitis?

A

Periorbital: doesn’t affect the contents of orbit, just the soft tissuesOrbital: affects the muscls of orbit

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97
Q

What causes periorbital cellulitis?

A

Infection spreads from nearby sites, most commonly sinusitis or RTI’sS.aureusS.epidermisStreptococci and anaerobic bacteriaS.pyogenes

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98
Q

What investigations might be used to diagnose periorbital cellulitis?

A

Clinical examBloods-> raised inflammatory markersSwabs of dischargeContrast CT of sinus and orbits-> differentiate between preseptal.orbital

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99
Q

What is strabismus?

A

SquintMisalignment of the eyes-> images on retine don’t mathc-> diplopia

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100
Q

What are the 2 types of squint?

A

Concomitant squintsParalytic squints

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101
Q

What are concomitant squints?

A

Imbalance in extra ocular muscles (convergent>divergent)

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102
Q

What are paralytic squints?

A

Paralysis in at least 1 extraocular muscle-> rare

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103
Q

What is ambylopia?

A

Affected eye becomes increasingly passive and loses function compared to other eye

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104
Q

What is esotropia?

A

Inward positioned squint(affected eye towards nose)

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105
Q

What is exotropia?

A

Outward positioned squint(towards ear)

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106
Q

What is hypotropia?

A

Downward movign affected eye

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107
Q

What is hypertropia?

A

Upward moving affeced eye

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108
Q

What investigations might be done to diagnose a squint?

A

InspectionEye movemebtsVisual acuityFundoscopu-> look for red reflex to rule out retinal pathologyHirschberg’s testCover test

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109
Q

What is impetigo?

A

highly contagious superficial epidermal infection of the skin primarily caused by Staphylococcal and Streptococcal bacteria.

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110
Q

What are the most common causes of impetigo?

A

S.aureusS.pyogenes

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111
Q

What age group(s) does impetigo most commonly affect?

A

InfantsSchool age children

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112
Q

What condition is this likely to be?

A
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113
Q

What are the different types of impetigo?

A

Bullous-causing large blistersNon-bullous-Causing sores

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114
Q

What bacteria causes bullous impetigo

A

S. aureus ALWAYS

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115
Q

Should children with impetigoe be kept off school?

A

Yes-until lesions are crusted/healed OR 48 hours after commencing antibiotic treatment

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116
Q

What causes scarlet fever?

A

Group A haemolytic strep-S.pyogenes

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117
Q

What is the incubation period of scarlet fever

A

2-4 days

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118
Q

What are the 3 shunts in fetal circulation?

A

Ductus venosusForamen ovaleDuctus arteriosus

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119
Q

What does the ductus venosus connect and what does it bypass?

A

Connects umbilical vein to inferior vena cavaBypass liver

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120
Q

What does the foramen ovale connect and what is bypassed because of it?

A

Between right atrium and left atriumBlood bypasses the right ventricle and pulmonary circulation

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121
Q

What does the ductus arteriosus connect and what does it bypass?

A

Pulmonary artery with aortaBlood bypasses pulmonary circulation

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122
Q

What does the ductus venosus become?

A

Ligamentim venosum

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123
Q

What does the ductus arteriosus become when it closes?

A

Ligamentum arteriosum

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124
Q

What does the foramen ovale become?

A

Fossa ovalis

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125
Q

What group are innocent murmus most common in?

A

Children

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126
Q

What causes innocent murmurs?

A

Fast blood flow through areas of the ehart during systole

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127
Q

What are the features of an innocent murmur?

A

SoftShortSystolicSymptomlessSituation dependent-> quieter with standing, only appears when ill or feverish

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128
Q

What investigations owuld be done in a patient with a murmur?

A

ECGCXREcho

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129
Q

What are the differentials of a pan-systolic murmur?

A

Mitral regurgitationTricuspid regurgitationVSD

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130
Q

What causes cyanotic heart disease?

A

Right to left shuntAllows deoxygenated blood fromm the right side of the heart into the left so it enters systemic circulation

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131
Q

What is Eisenmenger syndrome?

A

Pulmonary pressure increases beyond the systemic pressureBlood flows from right to left across the defect causing cyanosis

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132
Q

Pathophysiology of PDA:Pressure in {{c1::aorta}} higher than in {{c2::pulmonary vessels}}-> blood flows from aorta to pulmonary artery{{c3::Left to right}} shunt-> increased {{c4::pulmonary vessel}} pressure-> {{c5::pulmonary hypertension}}-> Right sided heart strain and {{c6::right ventricular hypertrophy }}Increased blood returning to left side leads to {{c7::left ventricular hypertrophy}}

A
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133
Q

What are the different types of atrial spetal defects?

A

Ostium secondumPatent foramen ovaleOstium primum-leads to AV wall defect

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134
Q

What are some complications of an atrial spetal defect?

A

Stroke-VTEAF/atrial flutterPulmonary hypertension and right heart failureEisenmenger syndrome

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135
Q

What is splitting of the second heart sound?

A

Closure of aortic and pulmonary valves at slighlty different times

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136
Q

What is meant by a fixed split?

A

Second heart sound split does not change with inspiration or expiration

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137
Q

What conditions is coarctation of the aorta associated with?

A

Turner’s Bicuspid aortic valveBerry aneurysmsNeurofibromatosis

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138
Q

What conditions are coarctation of the aorta commonly associated with?

A

Down’s syndromeTurner’s syndrome

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139
Q

Name some symptoms of a VSD in a neonate

A

Poor feedingDyspnoeaTachypnoeaFailure to thrive

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140
Q

What are patients with VSDs at increased risk of?

A

Infective endocarditis-use antibiotic prophylaxis

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141
Q

What are the 4 coexisting pathologies in tetralogy of fallot?

A

VSDOverriding aortaPulmonary valve stenosisRVH

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142
Q

What is meant by ‘overriding aorta’?

A

Entrance to aorta(aortic valve) is placed further to the right than normal, above the VSD

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143
Q

What causes right ventricular hypertrophy in tetralogy of fallot?

A

Increased strain on muscular wall of the right ventricle as it attempts to pump blood against the resistance of the left ventricle

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144
Q

Name some risk factors for tetralogy of fallot

A

RubellaIncreased maternal ageAlcohol consumption in pregnancyDiabetic mother

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145
Q

What investigations are used to diagnose tetralogy of fallot?

A

Echo with doppler flow studiesCXR: boot shaped heart

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146
Q

Name some symptoms of tetralogy of fallot

A

CyanosisClubbingPoor feedingEjection systolic murmur heard loudest at the pulmonary areaHeart failure symptomsTet spells

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147
Q

What are tet spells?

A

Intermittent episodes where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episodeHappens when pulmonary vascular resistance increases or systemic resistance decreases, blood pumps from right ventricle to aorta and bypassess lungs

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148
Q

Name some things that can trigger tet spells

A

WakingPhysical exertionCrying

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149
Q

What can severe tet spells result in?

A

Reduced consciousnessCyanosisShortness of breath

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150
Q

Name the signs of transposition of the great arteries

A

Loud single S2Prominent RV impulse’Egg on side’ appearance on CXR

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151
Q

What is Ebstein’s anomaly?

A

Congenital heart condition where the tricuspid valve is set lower int he right side of the heart, causing a bigger right atrium and a smaller right ventricle

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152
Q

What is Ebstein’s anomaly associated with?

A

Exposure to lithium in pregnancyPatent foramen ovale and atrial septal defectWolff-Parkinson White syndrome

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153
Q

Name the signs of Ebstein’s anomaly

A

Gallop rhythm on auscultation-addition of 3rd and 4th heart soundsHepatomegalyProminent ‘a’ wave in distended jugular venous pulseTricuspid regurg->pansystolic murmur worse on inspirationRBBB-> widely split S1 and S2

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154
Q

What is congenital aortic valve stenosis?

A

Narrow aortic valve that restricts blood flow through the left ventricle into the aorta

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155
Q

Name some signs of congenital aortic valve stenosis

A

Crescendo decrescendo ejection systolic murmur(2nd IC, Right, radiates to carotids)Ejeciton clickPalpable thrillSlow rising pulse and narrow pulse pressure

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156
Q

What is congenital pulmonary valve stenosis?

A

Leaflets of pulmonary valve develop abnormally, becoming thickened or fused-> narrow openign between RV and pulmonary artery

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157
Q

What conditions is congenital pulmonary valve stenosis associated with?

A

Tetralogy of FallotWilliam syndromeNoonan syndromeCongenital rubella syndrome

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158
Q

Name the signs of congenital pulmonary valve stenosis

A

Ejection systolic murmur heard loudest at 2nd IC L sternal border(pulmonary area)Palpable thrill-pulmonary areaRight ventricular heave due to RVHRaised JVP and giant a waves

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159
Q

Until what age is nocturnal enuresis considered normal until?

A

5 years

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160
Q

What is primary nocturnal enuresis?

A

Child has never achieved continence before

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161
Q

What is secondary nocturnal enuresis?

A

Child has been dry for at least 6 months before

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162
Q

What investigations might be done in a patient with nocturnal enuresis?

A

Detailed history, exam and urine disptickMight also consider: renal US, urine osmolality etc to check for other causes

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163
Q

What is haemolytic uraemic syndrome?

A

Renal limited form of thrombotic microagniopathy

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164
Q

What causes secondary/typical haemolytic uraemic syndrome?

A

Shiga toxin producing E.ColiAlso pneumococcal infection, HIV, SLE

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165
Q

What causes primary/typical haemolytic uraemic syndrome?

A

Complement dysregulation

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166
Q

What investigations might be done in a patient with suspectted haemolytic uraemic syndrome?

A

FBC: Hg<8, negative Coombs test, thrombocytopenia, high plateletsFragmented blood film-schistocytes and helmet cellsU%E’s: AKI-high urea and creatinineStool culture: evidence of STEC infection, PCR for Shiga toxinsNormal coagulation studies

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167
Q

What is a urinary tract infections?

A

Infection in any area of the urinary tract->kidneys, ureters, bladder, urethra

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168
Q

What investigations should be done for a suspected UTI?

A

Urine disptick-leukocytes and nitritesCulture using appropriately collected urine

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169
Q

What investigations are done to diagnose vesicoureteric reflux

A

US KUBVoiding cystourethrogram(VCUG) or nuclear cystogram(visualise refluz of urine from bladder)

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170
Q

What is the most common presenting symptoms of Wilms’ tumour

A

Palpable abdominal massUsually doesn’t cross the midlineCan be bilateral in <5% of cases

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171
Q

Name some symptoms of Wilms’ tumour

A

Palpable abdominal massAbdominal distentionPainless haematuriaHypertesnionFlank painSystemic: anorexia, feverMetastases- 20% to the lung

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172
Q

What is the most common site for a Wilms’ tumour to metastasize to?

A

Lung

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173
Q

What investigations should be done in a patient with suspected Wilms’ tumour?

A

Unexplained large abdominal mass-> REVIEW by paediatrician within 48hoursCT chest, abdo, pelvisRenal biopsy-> definitive

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174
Q

Staging of Wilms’ tumour1) Tumour confined to kidney2)Extrarenal spread but resectable3) Extensive abdominal disease4)Distant metastases5) Bilateral metastases

A
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175
Q

What is the prognosis for a Wilms’ tumour

A

Good: 80-90% cure rate

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176
Q

What is cryptorchidism?

A

Undescended testes-one or both are not present within the dependent portion of the scrotal sac by 3 months

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177
Q

What is the difference between cryptorchidism and retractile testis

A

Retractile testis can be manipulated into scrotum and are sometimes there

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178
Q

What is included in an orchidopexy

A

Inguinal exploration, mobilisation of testis and implantation into a dartos pouch

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179
Q

What are the reasons for operating on a patient with cryptorchidism

A

Lowers risk of infertilityUndescended testes-> 40 times as likely to develop seminomasAllows testes to be examined for cancersAvoid testicular torsionCosmesis

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180
Q

What indicates higher risk for developing seminomas in a patient with cryptorchidism

A

Higher the testes in the abdomen the higher the risk fo developing seminomas

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181
Q

What is hypospadias?

A

Congenital abnormality where the urethra is abnormally located on the ventral(underside) of the penis

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182
Q

What is the most common place for the urethra to be located in a patient with hypospadias

A

Distal ventral side

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183
Q

What conditions is hypospadias associated with?

A

Cryptorchidism(10%)Inguinal hernia

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184
Q

What is the most important thing to remember in a patient with hypospadias prior to having corrective surgery?

A

Should not be circumcised-> foreskin used in procedure

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185
Q

What is phimosis?

A

Non-retractable foreskin with associated scarring that will not resolve spontaneously Normal in infants and young children

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186
Q

What is paraphimosis?

A

Foreskin can’t return to original position after being retracted

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187
Q

What is nephrotic syndrome?

A

Clinical syndrome that arises due to increase permeability of serum proteins through a damaged basement membrane in the renal glomerulus

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188
Q

What is the classic triad of nephrotic syndrome?

A

Proteinuria(>3g/24hr)Hypoalbuminaemia(<30g/L)OedemaAlso hyperlipidaemia and lipiduria

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189
Q

What is the most common cause of nephrotic syndrome in children?

A

Minimal change disease

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190
Q

What is the most common cause of nephrotic syndrome in adults?

A

Membranous nephropathy

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191
Q

Name some secondary causes of nephrotic syndrome

A

DiabetesSLEAmyloidosisInfections: HIV/Hep B/CDrugs: NSAIDs

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192
Q

What investigations would be done in a patient with nephrotic syndrome?

A

Urine disptick-> proteinuria and check for microscopic haematuriaMSU-> exclude UTIUrine analysis-> increased ACR ratioRenal biopsy if atypical presentationFBC/coag screen/U&Es

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193
Q

What age group does minimal change disease usually affect?

A

1-8 years

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194
Q

What investigations might be done in a patient with minimal change disease?

A

Urine dipstick and analysis: proetinuria, haematuria, exclude UTIBloods: Low albumin, high cholesterolKidney biopsy and microscopy

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195
Q

What are the key features of nephritic syndrome

A

Haematuria(either microscopic or macroscopic)OliguriaProteinuriaFluid retention and oedema(less severe than in nephrotic)Hypertension

196
Q

What is the most common cause of primary glomerulonephritis?

A

IgA nephropathy

197
Q

What age groupd is IgA nephropathy most commonly seen in?

A

Aged 20-30 years

198
Q

What investigations might be done in a patient with suspected IgA nephropathy?

A

Urinalysis and MC+S: blood/proteinGS: renal biopsy and immunofluorescence-> diffuse mesangial IgA immune complex depositionSerum IgA levels high in about 50%

199
Q

What conditions are associated with IgA nephropathy?

A

Alcoholic cirrhosisCoeliac disease/dermatitis herpetiformisHenoch-Schonlein purpura

200
Q

What is post strep glomerulonephritis?

A

Immune complex mediated GN that typically occurs 1-3 week after a streptococcla URTI

201
Q

What group of people is post strep glomerulonephritis most commonly seen in?

A

Children more than adulta

202
Q

What causes post strep glomerulonephritis?

A

Specific strains of Group A beta haemolytic streptococci

203
Q

What investigations might be done in a patient with post strep glomerulonephritis

A

Urinalysis: blood and maybe proteinUrine microscopy: dysmorphic RBCs(bleeding from glomerulus)FBC: raised WCCU&E’s: AKIIg’sComplements: low C3Antibodies: raised anti-streptolysin and DNAase BGS: renal biopsy

204
Q

Name some symptoms of rapidly progressive glomerulonephritis

A

OliguriaHaematuriaProteinuriaHypertensionOedemaLoss of appetite

205
Q

What is rapidly progressive glomerulonephritis?

A

Subtype of glomerulonephritis that progresses to end stage renal failure in weeks to months

206
Q

What is hypogonadism?

A

Endocrine disorder where the testes produce insufficient sex hormones, particularly testosterone

207
Q

Name some risk factors for hypogonadism

A

ObesityChronic medical conditions: T2DM, HIVGenetic disordersTreatments for prostate cancerAgeMale

208
Q

What health issues is hypogonadism associated with?

A

InfertilityOsteoporosisGynaecomastia

209
Q

What investigations might be done in a patient with hypogonadism?

A

Usual bloodsBone profileFasting lipids and glucosePSAOestrogen, testosterone, sex hormone binding globulin, LH, FSHProlactinTSH, T3, T4CortisolMRI of pituitaryCXRDEXA scanKaryotyping

210
Q

What is Klinefelter syndrome?

A

Male as additional X chromosome: 47XXYCan rarely also be 48XXXY or 49XXXXY-more severe

211
Q

What conditions are people with Klinefelter syndrome more at risk of?

A

Breast cancer(compared ot other males but risk still low)OsteoporosisDiabetesAnxiety and depression

212
Q

What is the most common renal abnormality in patients with Turner’s syndrome?

A

Horseshoe kidney

213
Q

What cardiology conditions are associated with Turner’s syndrome?

A

Bicuspid aortic valve(15%)Coarctation of the aorta(5-10%)

214
Q

What conditions are associated with Turner’s syndrome?

A

Recurrent otitis mediaRecurrent UTICoarctation of aortaHypothyroidismHypertensionDiabetesOsteoporosisSpecific learnign difficultiesIncreased incidence of AI conditions like AI thyroiditis and Crohn’s

215
Q

What is Down’s syndrome?

A

Genetic condition resulting from the presence of 3 copis of chromosome 21 instead of 2Trisomy 21

216
Q

What are the 3 main genetic mechanisms responsible for Down’s syndrome?

A

Gamete non-disjunction-mc, associated with increasing maternal ageRobertsonian translocation-4%Mosaic Down syndrome-lc

217
Q

What is the combined test? (Down’s syndrome screening)

A

1st line and most accurateUS: nuchal translucency(Down’s: >6mm)Maternal bloods: B-HCG(higher), pregnancy associated plasma protein A(lower)

218
Q

What are women offered if their antenatal screenign comes back with a >1/150 chance of having a baby with Down’s syndrome?

A

Chorionic villus sampling(CVS): US guided biopsy of placental tissue-done before 15 weeksAmniocentesis-> US guided aspiration of amniotic fluid(done later on)

219
Q

What is non-invasive prenatal testing(Down’s syndrome)?

A

Blood test from mother, will contrain fragments of DNA and some will come fromplacental tissue and represent fetal DNA-> analysed to detect Down’s

220
Q

What are the key features of Edward’s syndrome?

A

Micrognathia(lower jaw smaller than normal)Low-set earsRocker bottom feetOverlapping of fingers

221
Q

What is Edward’s syndrome?

A

Trisomy 18

222
Q

What is Patau’s syndrome?

A

Trisomy 13

223
Q

What are the key features of Patau syndrome?

A

MicrocephalySmall eyesPolydactylyScalp lesionsBorn with cleft palateLarge testicles after pubertyAutismSeizuresADHDHypermobility

224
Q

What are the features of Fragile X?

A

Learnign difficultiesMacrocephalyLong faceLarge earsMacro-orchidism

225
Q

What is the difference between Pierre-robin syndrome and Treacher-Collins syndrome?

A

Similar features, Treacher-Collins is autosomal dominant so will have family history

226
Q

What is meany by ‘muscular dystrophy’?

A

Umbrella term for genetic conditions that cause gradual weakening and wasting of muscles

227
Q

What is the main clinical exam finding in a patient with muscular dystrophy and why? 

A

Gower’s singDue to proximal muscle weakness: will use hands on legs to help them stand up

228
Q

What is the inheritance of Duchenne Muscular dystrophy?

A

X-Linked recessive

229
Q

What causes Duchenne Muscular Dystrophy?

A

X-Linked recessive disorder in the dystrophin geneDystrophin genes reqquired for normal muscular function

230
Q

What investigatinos are done to diagnose Ducehnne msuclar dystrophy?

A

Creatine kinase: raisedGenetic testing: now replaced muscle biopsy for a definitive diagnosis

231
Q

What is myotonic dystrophy?

A

Genetic disorder that usually presents in adulthood

232
Q

What is Angelman syndrome?

A

Genetic condition caused by loss of function of UBE3A gene, specifically the gene inherited by the motherCan be caused by a deletion on chromosome 15 or where 2 copies of chromosome 15 come from the father with no copy from the mother. 

233
Q

What is Prader willi syndrome?

A

Genetic condition caused by the loss of functional genes on the proximmal arm of chromosome 15Can be due to a deletion or when both copies are inherited from the mother

234
Q

What is the difference in inheritance between prader willi syndrome and angelman’s syndrome?

A

Prader Willi if gene deleted from fatherAngelman if gene deleted from mother

235
Q

What is Noonan syndrome?

A

'’Male Turner’s’Autosomal dominant associated with a normal karyotype-> defect in gene on chromosome 12

236
Q

What conditions are associated with Noonan syndrome?

A

Congenital heart disease: pulmonary valve stenosis, hypertropic cardiomyopathy, ASDCryptochordismLearning disabilityLymphoedemaBleeding disordersIncreased risk of leukaemia and neuroblastoma

237
Q

What conditions are associated with William’s syndrome?

A

Supravalvular aortic stenosisADHDHypertenisonHypercalcaemia

238
Q

What is osteogenesis imperfecta?

A

Genetic disorder primarily affecting the body’s pruduction of collagen, resulting in bone fragility and fractures

239
Q

What investigations might be done to diagnose osteogenesis imperfecta?

A

Genetic testing: COL1A1 and COL1A2 genesImaging: x-rays to ID fractures and assess bone densityAudiology evaluatyionsNORMAL calcium, phosphate, parathyroid and ALPOften clinical diagnosis

240
Q

What is Ricket’s?

A

Paediatric skeletal disorder(osteomalacia in adults) caused by a deficiency or impaired metabolism of vitamin D, calcium or phosphate, resultss in an inability to mineralise the bone matrix of growing bone causing soft and deformed bones

241
Q

What investigations might be done in a patient with suspected rickeets?

A

Low vitamin DReduced serum calciumRaised alklaine phosphataseRaised PTHX-ray: osteopneia-bones look more radiolucent)Also look for other patholoyg: FBC, inflammatory markers, Kidney, liver, thyroid function tests, malabsorption screening and autoimmune screening

242
Q

What is osteomyelitis?

A

Infection of the bone that can be acute or chronic caused by bacterial or fungal pathogens

243
Q

What are the most common causative organisms of osteomyelitis?

A

S. aureus most commonlyAlso coagulase negative staphylococci

244
Q

What is the most common cause of osteomyelitis in patients with sickle cell?

A

SSalmonella species

245
Q

What investigations might be done in a patient with osteomyelitis?

A

Definitive: bone biopsyMRI: gold standard imaging-bone marrow oedema Raissed inflammatory markers, cultures etc

246
Q

Wha is septic arthritis?

A

Infection of the synvial fluid in the joint, typically caused by bacterial or viral pathogen

247
Q

What investigations are used to diagnose septic arthritis?

A

Joint aspiration for MSU: aspirate will be turbid and yelllsBloods: raised ESR and CRP and WCCCultures: ID causative organismsImaging: x-ray

248
Q

What is the Kocher criteria for diagnosing septic arthritis?

A

Fever >38.5 degreesNon-weight bearingRaised ESRRaised WCC

249
Q

What is Perthes’ disease?

A

Degenerative condition caused by avascular necrosis of the femoral head in children, specifically the femoral epiphysis

250
Q

What is Slipped Upper Femoral Epiphysis?

A

AKA Slipped capital femoral epiphysis-hip disorder in adolescennts where the head of the femur is displaced along the growth plate

251
Q

Name some risk factors for Slipped Upper Femoral Epiphysis

A

Sex: male in 80% of casesAge: adolescents ae 8-15 years(12 yrs average in M, 11 year averag ein F)ObesityEndocrine disorders: hypothyroidism and hypogonadismEhtnicity: Afro-Caribbean and hispanic populations

252
Q

What is osgood schlatter disease?

A

Self limited condiitons characterised by inflammatin and stress induced injury of the tibial tuberosity at the insertion point of the patellar tendon

253
Q

What is developmental dysplasia of the hip?

A

Congenital abnormality of the hip joint in whcih the femoral head and the socket of the pelvis(acetabulum) don’t articulate properly

254
Q

Wen is screening for developmental dysplasia of the hips done?

A

Newborn baby check6 week baby check

255
Q

What infants require a routine US for developmental dysplasia of the hips?

A

1st degree family history of hip problems in early lifeBreech presentation >=36 weeks gestation, irresepctive of presentaiton at birth or mode of deliveryMultiple pregnancy

256
Q

What is juvenile idiopathic arthritis?

A

Arthritis occurs in someone <16 and lasts >6 weeksCan be systemic onseet(Still’s)PolyarthritisOligoarthritisEnthesitis relatedJuvenile psoriatic

257
Q

What investigations might be done in a patient with Still’s disease?

A

ANA and RF: typically negativeRaised inflammatory markers: CRP, ESR, platelets, ferritin

258
Q

What is a key investigation finding in a patient with macrophage activation syndrome

A

Low ESR

259
Q

What is polyarticular JIA?

A

Idiopathic inflammatory arthritis in >=5 joints

260
Q

What is oligoarticular JIA?

A

Pauciarticular JIAMonoarthirits-usually larger joints, often knee or ankles

261
Q

What is enthesitis relateed JIA?

A

Paediatric version of seronegative spondyloarthropathiesAnkylosing spondylitis, psoriatic arthirtis, reactive arthritis, IBD related arthritisInflammatory arthritis and enthesitis

262
Q

What is enthesitis?

A

Inflammation of insertino pount when tendon inserts into boneCan be caused by traumatic stress or AI inflammatory process

263
Q

What gene is associated bwith enthesitis relateed arthritis?

A

HLAB27

264
Q

Name some typical features of torticollis

A

Sudden onset of severe or unilateral painRestricted/painful neck movementsDiffuse tenderness on involved side with palpable spasms

265
Q

What is adolescent idiopathic scoliiosis?

A

Structural spinal deformity characterised by decompensation of the normal verterbral alignment during rapid skeletal growth in otherwise healthy children

266
Q

What is discoid meniscus?

A

Lateral meniscus shaped like a disk, variation of normal meniscusCan be more prone to injury as is more likely to get stuck in the knee or tear

267
Q

What condition is associated with discoid meniscus?

A

Meniscal tear

268
Q

What are the 4 types of leukamia?

A

Acute myeloidAcute lymphoblasticChronic myeloidChronic lymphocytic

269
Q

What causes acute lymphoid leukaemia?

A

Impaired cell differentiation resulting in large numbers of malignant precurose cells in the bone marrow

270
Q

What causes chronic leukaemia?

A

Excess proliferation of mature malignant cells but cell differentiation is unaffected

271
Q

What causes myeloid leukaemia?

A

Arises from myeloid precurose cell, such as the cells that produce neutrophilsSS(common myeloid progenitor)

272
Q

What causes lymphocitic anaemia?

A

Arises from a lymphoid precursor such as a B or T cell

273
Q

What condition is associated with ALL?

A

Down’s sndrome

274
Q

What is the most common form of acute leukaemia in adults?

A

AML

275
Q

What is AML commonly associated with?

A

Myelodysplastic syndrome

276
Q

What demographic is usually affected by AML?

A

Older adults

277
Q

What genetic change is associated with AML?

A

t(15,17)translocation

278
Q

What can AML result from?

A

Myeloproliferative disorder like polycythaemia rubra vera or myelofibrosis

279
Q

What causes tumour lysis syndrome?

A

Results from chemicals released when cells are destroyed by chemotherapy

280
Q

What does uric acid result in?

A

High uric acid-> AKI (crystals in interstitial space aand tubules of kidneys)Hyperkalaemia-> cardiac arrhythmiasHigh phosphate-> hypocalcaemiaRelease of cytokines can cause systemic inflammation

281
Q

What are the key things to remember about AML

A

Associated with Auer rodsCan arise from a myeloproliferative disorder

282
Q

What are the key things to remmeber about CML?

A

3 phases including long chronic phaseAssociated with Philadelphia chromosome

283
Q

What age groups is most commonly affected by CML?

A

40-50yrs60-70yrs??

284
Q

What are the 3 phases of CML?

A

ChronicAcceleratedBlast

285
Q

What happens in the chronic phase of AML?

A

Often asymptomaticPateints diagnosed from incidental finding of raised WCCCan last years before progressing

286
Q

What happens in the accelerated phase of CML?

A

Abnormal blast cells take up 10-20% of bone marrow and blood cellsMore symptomatic-> anaemia, throombocytopenia and immunodeficiency

287
Q

What happens in the blast phase of CML?

A

>20% blast cells in the bloodSever symtpoms include pancytopeniaOften fatal

288
Q

What is the philadelphia chromosome?

A

t(9:22)>95% of CMLAlso called BCR-ABL

289
Q

What age gruop is most commonly affcetd by ALL?

A

4-5 yrs

290
Q

What causes ALL?

A

Affects on of lymphocyte precurosr cells causing acute proliferation of one type of lymphcyte,, most commonly B lymphocyteExcessive accumulation of these cells replaces other types in bone marrow-> pancytopenia

291
Q

What are the key things to remember about ALL

A

Most common leukaemia in childrenAssociated with Down’s syndrome

292
Q

What are the key things to remember about CLL?

A

Associated with haemolytic anaemiaRichter’s transformationSmudge cells

293
Q

What age groups is most commonly affected by CLL?

A

>60 years

294
Q

What is Richter’s transformation?

A

Occurs when leukamia cells enter lymph node and change into high grade, fast growin non-Hodgkiin’s lymphoma

295
Q

What investigations might be done to diagnose a paediatric brain tumour?

A

MRI/CTLPBiopsy

296
Q

What is the most common form of brain tumours in the general population?

A

Metastatic brain cancer

297
Q

What is the most common primary brain tumour in children?

A

Pilocytic astrocytoma

298
Q

What is a medulloblastoma?

A

Aggressive paediatric brain tumour

299
Q

What is the median age of onset for a neuroblastoma?

A

Around 20 months

300
Q

What investigations might be done in a patient with a suspected neuroblastoma?

A

raised urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levelscalcification may be seen on abdominal x-raybiopsy

301
Q

What is pyloric stenosis?

A

Pyloric sphincter(circular muscle at the base of the stomach controlling gastric emptying into small intestine) becomes hypertrophied-> narrowing of gastric outlet and gastric outlet obstruction

302
Q

What age group is most commonly affected by pyloric stenosis?

A

2-8 weeks

303
Q

What are the complications of pyloric stenosis?

A

Hypochloremic hypokalemic metabolic alkalosisDehydration

304
Q

What investigations are used to diagnose pyloric stenosis?

A

Abdo USS: Visualise hypertrophic pyloric sphincterLength: >16-18 mm and thickness >3-4 mm

305
Q

What is mesenteric adenitis?

A

Inflammatory condition that involves the lymph nodes in the abdmone and can mimic appendicitis

306
Q

What investigations might be done in a patient with mesenteric adenitis?

A

FBC: no raised wcc or inflammatory markersUSS abdomen: enlarged mesenteric lymoh nodes and normal appendix(if visualised)

307
Q

What is Intussusception

A

Invagination(telescoping) of a segment of the proximal bowel into a distal bowel segment

308
Q

What is the most common site in which intussusception happens?

A

Ileum passing into caecum through ileocaecal valve

309
Q

What age group is most commonly affected by intussusception

A

Primarily infants: peaks 3 months-2 years

310
Q

Name some risk factors for intussusception

A

Viral infections: predisopseLymphoid hyperplasia: e/g/ lymphomasMeckel’s diverticulum: ‘lead point’ for intussusceptionPolypsCystic fibrosisHneoch Schonlein purpura

311
Q

What gender is more commonly affected by intussusception?

A

Boys affected twice as often as girls

312
Q

What is intestinal malrotation?

A

Congenital abnormality where the midgut undergoes abnormal rotation and fixation during embryogenesis making is susceptble to volvulus

313
Q

What conditions does intestinal malrotation occur in?

A

ExomphalosCongenital diaphragmatic herniaIntrinsic duodenal atresia

314
Q

What is the msot common cause of vomiting in children and why?

A

GORDImmaturity of the lower oesophageal sphincter allowing contents to pass freely into oesophaguse from stomach’Normal’ and can have overlap with normal physiological processes)

315
Q

What causes the progressing pain in patients with appendicitis?

A

Initial dull, vague discomfort: irritation of visceral afferent nerve fibres from T8-T10Transition from visceral to somatic pain as inflammation affects parietal peritoneum covering the abdominal wallParietal peritoneum supplied by somatic afferent nerve fibres from T10-L1: moves to RIF

316
Q

What investigations should be done in a patient with suspected appendicitis?

A

VBG: lactatePregnancy testUrine dip: leukocytesFBC, CRP, LFTS, U&CXR: rulee out perforationCT abdo pelvis/USS of RIF-usually only used if doubt about diagnosis

317
Q

What is biliary atresia?

A

Rare but seriosu conditions where bile ducts in newborn’s liver undergo fibrosis and destruction-> can be fatal

318
Q

Types of biliary atresia:Type 1: {{c1::proximal ducts patent, common duct obliterated}}Type 2: {{c2::Atresia of cystic duct and cystic structures found in porta hepatis}}Type 3: {{c3::Atresia of left andd right ducts to the level of the porta hepatis}}

A
319
Q

Name some signs of biliary atresia

A

Jaundicehepato and splenomeglayAbnormal gorwthCardiac murmus

320
Q

What investigations might be done in a patient with biliary atresia?

A

Abnormally high conjucated bilirubin, total may be normalLFTs: high AFTSAlpha 1 antitrypsin: other causes of neonatal cholestasisSweat chloride test: CFUSSSLiver biopsy

321
Q

What are febrile convlusions?

A

Type of seizure that occus in association with a fever, without evidence of intracranial infection or defined causeTypically short lived(15 minutes) and tonic-clonic

322
Q

What investigations might be done in a child with a suspected febrile convlusion

A

Bloods to rule out infectionLP if CNS infeciton suspectedEEG if recurrent or neuro deficits

323
Q

What is the overall risk of further febrile convulsion?

A

36894

324
Q

What are some risk factors for further febrile seizures?

A

Age <18 months at onsetFever: <39 degreesShort duration of fever before seizureFamily history of febrile convulsions

325
Q

What is the most common cause of constipation in children?

A

Idiopathic/dietary-low fibre, dehydration, psychosocial issues

326
Q

Name some secondary causes of constipation in children

A

Hirschprung’sCFSexual abuseCMPAHypothyroidismSpinal cord elsionsIntestinal obstructionAnal stenosis

327
Q

What is encopresis?

A

Faecal incontinence

328
Q

What is cerebral palsy?

A

Permanent, non-progressive movement disorders that occur due to damage to a child’s CNS

329
Q

What are the subtypes of cerebral palsy

A

Spastic-mcDyskineticAtaxicMixed

330
Q

What areas of the CNS are damamged in dyskinetic cerebral palsy?

A

Basal ganglia and substantia nigra

331
Q

What areas of the CNS are damaged in ataxic cerebral palsy?

A

Cerebellar pathways

332
Q

What investigations might be done in a child with suspected cerebral palsy?

A

MRI-visualise extent and nature of brain lesionsGenetics to rule out differentials/underlying genetic disorder

333
Q

What is haemolytic disease of the newborn?

A

Immunological condition thata rises when a rhesus negative mother becomes sensitised to the rhesus positive blood cells of her baby whilst in utero

334
Q

What investigations might be used in haemolytic disease of the newborn

A

Direct antiglobulin test(DAT)USS to check for fetal oedemaLFT’s to check for complications

335
Q

What is a cephalohaemata?

A

Swelling on the newborns head-> typically develops several hours after delivery

336
Q

What causes a cephalohaematoma?

A

Bleeding between the periosteum and skull

337
Q

What is caput succedaneum?

A

Oedema to the scalp at the presenting part of the head, typically the vertex

338
Q

What causes caput seccedaneum?

A

Mechanical trauma of initial portion of the scalp pushing through the cervixSecondary due to use of ventouse delivery

339
Q

What are postpartum/puerperal infections?

A

Infections of the GU tract, surgical wounds, urinary tract and breast that develop after the first 24 hours and on any two of the first 10 days postpartum

340
Q

What is the APGAR scor? 

A

Used to assess the health of a newborn abby

341
Q

What are the ccomponents of the APGAR score?

A

AppearancePulseGrimaceActivityRespiration

342
Q

What is acute respiratory distress syndrome?

A

Acute lung damage leading to non-cardiogenic pulmonary oedema(increased permeability of alveolar capillaries leading to fluid acculumaltion in the alveoli)

343
Q

What criteria is used to determine if a patient has ARDS?

A

Berlin criteria-all of:Acute onset(<1 week)CXR-> bilateral opacitiesDecreased ratio of arterial to inspired oxygen concentrations(Pa02/FiO2)<=300

344
Q

What is neonatal respiratory distress syndrome?

A

AKA hyaline membrane diseaseLife-threatening condition primarily affectinng premature infants characterised by deficient production of surfactant

345
Q

What does surfactant do?

A

Lowers the surface tension within alveoli Deficiency: increased surface tenssion and subsequent alveoli colllapse-> respiratory distress

346
Q

What is surfactant?

A

Phospholipid containing fluid produced by type 2 pneumocytes in the lungs

347
Q

Name some risk factors for neonatal respiratory distress syndrome

A

Premature babiesMaternal diabetesLow birth weightMultiple pregnanciesMaleDelivery via C section without maternal labourFamily hisitory of NRDS

348
Q

What is neonatal sepsis?

A

Severe systemic infection occuring in infants <90 days old Early onset: <72 hours post birthLate onset: >72 hours

349
Q

What causes early onset neonatal sepsis?

A

Often ascending infections from the maternal genital tract or transplacental infections

350
Q

What causes late onset neonatal sepsis

A

Usually organisms in hospital environemnt orr infant’s intestinal flora

351
Q

Name some risk factors that increase the likelihood of early-onset neonatal sepsis

A

Multiple pregnancies witth sibling with suspected/confirmed infectionsEvidence of GBS in previous baby or current pregnancyPremature birthRupture of membranes >18 hours for pre-term babies or >24 hours for term babiesMaternal temp >38Suspected/confirmed maternal sepsisChorioamnionitis

352
Q

What are the most common causes of early neonatal sepsis

A

Group B strepE.

353
Q

What is meconium aspiration syndrome?

A

Occurs when a newborn aspirates meconium into the lungs prior to birth-> neonatal morbidity

354
Q

Name some risk factors for meconium aspiration syndrome

A

Post dates pregnancy: >40 weeksProlonged/difficult labourChoriomanionitisPre-eclampsiaHypertension in pregnancyOligohydramniosMaternal infectionPlacental insufficiencyIntrauterine growth infection

355
Q

What is the general figure used to suggest neonatal hypoglycaemia?

A

<2.6mmol/L

356
Q

What is gastroschisis?

A

Congenital defect in the anterior abdominal wall just lateral to the umbilical cord

357
Q

What is the main difference between gastroschisis and omphalocele?

A

Gastroschisis: abdominal contents slip outside without a sacOmphalocele: abdominal contents protrude into peritoneal sac

358
Q

What is an omphalocele?

A

AKA exomphalosAbdminal contents prortude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum

359
Q

What is intestinal atresia?

A

Congenital malformation resulting in closed/absent part of small/large intestine

360
Q

What condition is duodenal atresia strongly associated with?

A

Down’s syndrome

361
Q

What is oesophageal atresia?

A

Congenital GI abnormality where the oesophagus doesn’t connect with lower oesophagus and stomachOften coincides with traceho-oesophageal fistula

362
Q

What is a tracheo-oesophageal fistula?

A

Connection between the oesophagus and trachea

363
Q

What is CHARGE syndrome?

A

ColobomaHeart defectsAtresia choenaeRetarded developmentGenital hypolpasiaEar abnormalities

364
Q

Name some signs and symptoms of oesophageal atresia and tracheo-oesophageal fistula

A

Antenatal:PolyhydramniosPostnatal:Repsiratory distressDistended abdomenChoking/swallowing problems, difficulty feeding, excess saliva, ‘TOF’ coughDifficulty in passing an NG tube

365
Q

What is necrotising enterocilitis?

A

Severe GI disease that primarily affects premature infants. Necrosis of intestine due to ischaemia and infection-> perforatin of the bowel

366
Q

Name somr risk factors for necrotising enterocilitis

A

PrematureLow birth weightNon-breast milk feedsSepsisAcute hypoxiaPoor intestinal perfusionCongenital heart diseaseIntrauterine growth restrictionMaternal drug use and HIV status

367
Q

What is a congenital diaphragmatic hernia?

A

Incomplete formation of the diaphragm that allows herniation of abdominal viscera into the thorax-> pulmonary hypoplasia and hypertension

368
Q

What is the most common type of congenital diaphragmatic hernia

A

Left-sided posterolateral Bochdalek hernia

369
Q

What is the prognosis for congenital diaphragmatic hernia

A

Only around 50% survive

370
Q

What is jaundice?

A

Yellowing of skin and eyes due to an accumulation of bilirubin, a by product of RBC breakdown

371
Q

Name the causes of jaundice in the first 24 hours post birth

A

Rhesus haemolytic diseaseABO incompatibilityHereditary spherocytosisG6PD deficiencyCongenital infections-TORCH screenSepsis

372
Q

Name the causes of jaundice in the 2-14 days post birth period

A

PhysiologicalBreast milk jaundiceDehydrationInfeciton including sepsisHaemolysisBruisingPolycthaemia

373
Q

Name the causes of prolonged jaundice(>14 days/21 if preterm)

A

Physiological jaundiceBiliary atresiaHypothyroidismNeonatal hepatitisUTIPrematurityCongenital infections-CMV, toxoplasmsosi

374
Q

What causes physiological jaundice?

A

Relative polycythaemiaShorter RBC span compared to adultsLess effective hepatic bilirubin metyabolism in the first few days of life

375
Q

What is a jaundice screen?

A

Conjugated and unconjugated bilirubin-most importantCoombs’ test(direct antiglobulin)TFTs, FBC, blood filmUrine for MC+S and reducing sugarsU&Es and LFTs

376
Q

What is kernicterus?

A

Serious complication of untreated jaundice-> excess bilirubin damages brain, especially basal ganglia

377
Q

Name some symptoms of kernicterus

A

JaundiceIrritabilityVomitingHypotonia then hypertoniaGenerally less responsive, floppy baby not feeding

378
Q

What is a TORCH infection?

A

Infection of developing fetus or newborn that can occur in utero, during delivery or after birth, caused by any one of infectious organisms

379
Q

What does TORCH stand for?

A

Toxoplasma gondiiother: treponema pallidum, VZV, parvovirus B19, HIVRubellaCMVHSV

380
Q

What effect does treponema pallidum have on infants?

A

Syphilis-can pass through placenta and spread through birth canalFetal deathCongenital syphilis: craniofacial malformations, rash, deafness

381
Q

What is listeriosis?

A

Infeciton caused by bacterium listeria monocytogenes, foodborne

382
Q

What groups of people is listeriosis dangerous for?

A

ImmunocompromisedPregnant women

383
Q

What are the commonest variants of cleft lip/palate?

A

Isolated cleft lipIsolated cleft palateCombined cleft lip and palate-mc

384
Q

What is a major risk factor for developing cleft lip/palate

A

Maternal antiepileptic use

385
Q

Name some symptoms of disseminated HSV in a neonate

A

SeizuresEncephalitisHepatitisSepsis

386
Q

What is bronchopulmonary dysplasia?

A

AKA chronic lung disease of prematurityUsually affects premature babies-> respiratory distress

387
Q

What do babies with bronchopulmonary dysplasia typically require at birth

A

Intubation and ventilation

388
Q

Name some triggers of seizures in children with established epilepsy

A

Sleep deprivationPlaying video games/watching TV

389
Q

What are the different classifications of epilepsy in children?

A

West syndrome/infantile spasmsChild absence epilepsyLennox-Gastaut syndromeBenign rolandic epilepsy/BECTSJuvenile myoclonic epilepsy(Janz syndrome)Panayiotopoulos syndromeDravet’s syndrome

390
Q

What is Dravet’s syndrome?

A

Severe myoclonic  epilepsy typically onsets in infancy in an otherwise healthy infant

391
Q

What is the prognosis like for benign rolandic epilepsy?

A

Excellent prognosisUsually resolved by adolescence

392
Q

What is global developmental delay?

A

Dealy of at least 2 milestones in a child under the age of 5yrs

393
Q

Name some soeech and hearing developmental milestones

A

3 mths: tree-turns towards sound6 tmsh: double syllables ‘adah’9 mths: mama dada12-15: 2-6 words, commands2.5: 200 words3: short sentences, ‘what and who’4: ‘why, when how’

394
Q

What is a retinoblastoma?

A

Rare, malignant tumour of the retina that predmoninanly affects shildren under 5yrs

395
Q

What cancers are linked to mutaitons in the RB1 gene?

A

RetinoblastomaOsteosarcomaSoft tissue sarcomas

396
Q

What is the NICE referral criteria for retinoblastoma?

A

Urgent referral(<2ww) in children with absent red reflex

397
Q

What is hepatoblastoma?

A

Malignant tumour of the liver which usually occurs in young children(1-2yrs)

398
Q

What is osteosarcoma?

A

Malignant neoplasm derived from primitive transformed cells of mesenchymal origin that exhibit osteoblastic differentiation and produce malignant osteoid

399
Q

Name some risk factors for osteosarcoma

A

Hx of radiaiton or chemoGenetics: Li-Fraumeni syndrome, retinoblastomaOther bone conditions; chronic osteomyelitis

400
Q

What is Ewing’s sarcoma?

A

Malignant, small round-cell tumour that primarily involves the bone but can arise n soft tissues

401
Q

What gene is associated with Ewing’s sarcoma

A

EWS-GLI1 fusion gene

402
Q

What is Hodgkin’s lymphoma?

A

Malignant proliferation of lymphocytes which accumulate in lymph nodes or other organsCharacterised byb presence of Redd-Steinberg cellss

403
Q

What is the role of the von Willebrand factor?

A

Normally promotes platelet adhesion to damaged endotheliumStabilises clotting factor 8

404
Q

What are the types of von Willebrand’s disease?

A

Type 1: partial reduction in vWF-80%Type 2: abnormal form of vWFType 3: total lack of vWF(autosomal recessive)

405
Q

What conditions are screened for in the neonatal blood spot?

A

Congenital hypoothyroidismSickle cellCFPhenylketonuriaMCADDMaple syrup urine isease MSUDIsovaleric acidaemiaGlutaric aciduria type 1Homocystinuria 

406
Q

What investigations might be used in a child with anaemia?

A

FBC: MCV, Hb, RBC, MCHWCC+ platelets-> signs of bone marrow failureReticulocyte count->asssess boen marrow responseIron studies: ferritin low-IDABlood filmCoombs-autoimmune haemolytic anaemiaCITB12 and folateGenetics

407
Q

Name some signs and symptoms of anaemia in children

A

FatiguePallorTachycardiaSOBIDA: pica(crave non-food substances like soil)Systolic murmur and gallop rhythmSplenomegaly and jaundice if haemolytic aanemia

408
Q

What is thalassaemia?

A

Group of inherited disorders characterised by abnormal Hb productionSeverity of syndrome proportional to number of absent/abnormal genes

409
Q

What are the 2 types of thalassaemia?

A

Alpha thalassaemia: defect in 4 genes for alpha-globinBeta thalassaemia: defect in 2 genes for beta-globin

410
Q

What is the inheritance of beta thalassaemia?

A

Autosomal recessive

411
Q

What is the problem with regular iron transfusions as a tx for beta thalassaemia?

A

Risk of iron overload toxicityIron builds up in heart, joints, liver and endocrinee glands-> death from cardiac failure

412
Q

What is sickle cell disease?

A

Autosomal recessive condition thatresults in synthesis of an abnormal haemoglobin chain: HbS

413
Q

What investigations might be used in an acute sickle cell crisis?

A

Bloods: FBC, U%Es, LFTs, cultureCXR: infecitons and acute chest syndromeCT/MRI if suspected vaso-occlusive crisis or ischaemic stroke

414
Q

What is fanconi anaemia?

A

Rare autosomal recessive condition that causes bone marrow failure, macrocytic normochromic anaemia and pancytopenia

415
Q

What is haemophilia?

A

X linked recessive inherited bleeding disorders

416
Q

What is the difference between haemophilia A and B?

A

A: deficiency in clotting factor 8B: deficiency in clotting factor 9

417
Q

What is immune thrombocytopenic purpura?(ITP)

A

Autoimmune condition characterised by a reduction in circulating platelets. 

418
Q

What is testicular torsion?

A

Urological emergency characterised by the twisting of testicle around the spermatic cord due to inadequate attachement of tissues within the scrotum-> obstruced blood flow to affected testicle-> testicular necrosis

419
Q

Name some risk factors for testicular torsion

A

Bell-Clapper deformityUndesended testicleTraumaPrior intermittent torsionTesticular tumour

420
Q

What is the different between primary and secondary sexual characteristics?

A

Primary: inborn characteristics present at birthSecondary: Develop during puberty

421
Q

What is precocious puberty?

A

Onset of secondary sexual characteristics before the age of 8 in females and 9 in males(earleir than normal age of puberty onset)

422
Q

What is adrenarche?

A

First stage of pubic hair development

423
Q

What causes bilateral testicular enlargement in males with precocious puberty?

A

Gonadotrophin release from intracranial lesion

424
Q

What causes unilateral testicular enlargement in males with precocious puberty?

A

Gonadal tumour

425
Q

What causes small testes in males with precocious puberty?

A

Adrenal cause(tumour or adrenal hyperplasia)

426
Q

What is Kallmann’s syndrome?

A

Cause of delayed puberty secondary to hypogonadotrophic hypogonadism

427
Q

What is congenital adrenal hyperplasia?

A

Group of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects

428
Q

Name some risk factors for obesity in children

A

Higher levels of deprivationParental obesityLow levels of exercise and high caloric dietFemaleAsian childrenTaller children

429
Q

What is congenital hypothyroidism?

A

Paediatric endocrine disorder characterised by insufficient production of thyroid hormones at birth-> can cause irreversible cognitive impairment

430
Q

What is pica?

A

Craving to eat non-food items >2yrs

431
Q

What is eczema?

A

Chronic inflammatory disorder of the skin characterised by dermatitis with resultant spongiotic change in the epidermis 

432
Q

What is eczema herpeticum?

A

Dermatological emergency-> disseminated HSV in a patient with eczema Occurs when a patient is first infected with HSV

433
Q

What is Stevens-Johnson syndrome?

A

Severe systemic reaction affecting the skin and mucosa-almost always caused by a drug reactiobImmune complex mediatede hypersensitivity disorder

434
Q

What is allergic rhinitis?

A

Inflammatory condition affecting the nasal mucosa-> becomes sensitized to allergens

435
Q

What is angio-oedema?

A

Deeper form of urticaria with swelling in the dermis and submucosal or SC tissue

436
Q

What is chronic urticaria?

A

Lasts for >6 weeks

437
Q

Name some risk factors/triggers for urticaria

A

Allergens(food, medications, insect stings)Physical stimuli(pressure, cold, heeat)InfectionsAI processesStress and emotional factorsGenetics

438
Q

What are birth marks?

A

Coloured marks ont he skin that are present at birth or soon afterwards

439
Q

What is anaphylaxis?

A

Acute and severe type 1 hypersensitivity reaction -severe, life-threatening 

440
Q

Name some triggers for anaphylaxis

A

Animals: insect stingsFoods: nuts(mc), shellfish, fish, eggs, milkMedications: abx, IV contrast media, NSAIDs

441
Q

What criteria is used to diagnose rheumatic fever?

A

Jones criteriaEvidence of recent strep infection+ 2 major criteria OR 1 major with 2 minor

442
Q

What are the major criteria for rheumatic fever

A

Erythema marginatumSydenham’s choreaPolyarthritisCarditis and valvulitisSC nodules

443
Q

What investigations might be done for paediatric heart failure

A

Oxygen sats(pre-ductal and post-ductal-before/after reaching ductus arteriosus of aorta)Bloods: FBC, U&ES, LFTS, CRP, TFT, bone profile, BNPCXR and echoECGExercise stress test if old enough

444
Q

What is infective endocarditis?

A

Infection of inner surface of heart(endocardium), usually the valves

445
Q

Name some risk factors for infective endocarditis

A

Previous episode of endocarditisAge >60yrsMaleIVDUPoor dental careProsthetic valveCongenital heart diseaseValve diseaseIntravascular devices

446
Q

What is the most common cause of infective endocarditis?

A

S.aureusEspecially in IVDU

447
Q

What is the most common causative organism of infective endocarditis in ppatient siwth poor dental hygiene?

A

Strep viridans

448
Q

What is the most common causative organism of infective endocarditis in patients with prosthetic valve disease?

A

Coagulase negative staphylococci: Staph epidermis

449
Q

What is the most likely casuative organism for infective endocarditis in patients with colorectal cancer?

A

Strep bovisConsider colonoscopy and biopsy in these patients 

450
Q

What are the culture negative causes of infective endocarditis

A

HACEK organismsHaemophilusActinobacillusCardiobacteriumEikenellaKingella

451
Q

Name some signs of infective endocarditis

A

Systemic:FebrileCachecticClubbingSplenomegalyCardiac:Murmur: fever + new murmur is IE until proben otherwiseBradycardia: aortic root abscess tracks down to AVN causing heart blockVascular phenomena:Septic emboli: abdo pain due ot splenic infarct/abscess, stroke, gangreneJaneway lesionsImmunological:Splinter haemorrhagesOsler’s nodes-painful pulp infarcs on ends of fingersRoth spots-retinal haemorrhagesGlomerulonephritos

452
Q

What investigations might be used to assess for infective endocarditis

A

ECG-prolonged  PR intervalUrine dip-> haematuria-glomerulonephritisBloods-raised inflammatory markers, normocytic anaemiaCultures: at least 3 at different times and sitesEcho: transthoracic echoCT CAP: evidence of septic emboli

453
Q

What abx are used for the treatment of infective endocarditis caused by S aureus?

A

FlucloxacillinVancomycin and rifampicin

454
Q

What abx are used for the treatment of infective endocarditis caused by S viridans?

A

BenxylpenicillinVancomycin and gentamicin

455
Q

What abx are used for the treatment of infective endocarditis caused by HACEK organisms?

A

Ceftriaxone

456
Q

What is congenital heart block

A

Type of cardiac arrhythmia in which there is complete dissociation between atrial and ventricular contractioins

457
Q

Name somee differentials for congenital heart block

A

Bundle branch blockVasovagal syncopeSeizure disordersOrthostatic hypotension

458
Q

What is IBS?

A

Common, chronic GI disorder characterised by abdo pain/discomfort with altered bowel habits without any identifiable structural/biochemical abnormalities

459
Q

What investigations might be done in a patient with suspected IBS

A

FBC, ESR, CRPCoeliac screenFaecal calprotectin

460
Q

What is gastroenteritis?

A

Inflammation of GI tract predominanly involving stomahc and small intestine characterised by diarrhoea and vomiting

461
Q

Name some viral causes of gastroenteritis

A

Rotavirus-mc in infantsNorovirus-mc in all infantsAdenovirus

462
Q

What are the key differences between Crohn’s and UC?

A

Crohn’s: non-bloody diarrhoea, mouth to anus, inflammation of all layers, Goblet cfells, granulomas, bowel obstruction, fistulaeUC: blood diarrhoes, ileocaecal valve to rectum, continuous disease, no inflammation beyond submucose, crypt abscesses

463
Q

What is Crohn’s disease?

A

Chronic relapsic remitting inflammatory bowel disease-> transmural granulomatous inflammation which can affect any part of the GI tract

464
Q

What criteria is used to assess the severity of Ulcerative colitis

A

Truelove and Witt’s criteria

465
Q

Name some surgical options for Ulcerative colitis patients

A

Panproctocolectomy with permanent end ileostomyColectomy with temporary end ileostomy(3 mths later can be reversed)

466
Q

Name some varibale term complications for Ulcerative colitis

A

Primary sclerosing cholangitis: monitor LFTs yearlyInflammatory pseudopolypsIncreased risk of VTE

467
Q

What is coeliac disease?

A

T cell mediated inflammatory AI disease disease that affects the small bowe

468
Q

Name some signs of coeliac disease in children

A

Pallor-> anaemiaShort statureWasted buttocksVitamin deficiency signs like bruisingDermatitis herpetiformis

469
Q

Name some things that might be seen on a jejunal biopsy in a patient with coeliac disease

A

Villous atrophyCrypt hyperplasiaIncreased intraepithelial T-lymphcoytes

470
Q

Name the causes of malnutrition due to wasting

A

Wt loss due to poor oral intake/infectious diseaseOrganic causes: coeliac, IBD or T1DM

471
Q

Name the causes of malnutrition due to stunting

A

Poor socioeconomic conditionerPoor maternal healthFrequent infectionsInappropriate feeding

472
Q

Name the causes of malnutrition due to nutrition deficiencies

A

Poor dietParasitic infectionsOrganic: coeliac and IBD

473
Q

Name the causes of malnutrition due to overnutrition

A

Excess energy consumption relative to energy expenditure

474
Q

What are the 2 forms of protein-energy malnutrition?

A

KwashiorkorMarasmus

475
Q

What is kwashiorkor?

A

Oedema and hepatomegaly due to low protein intake with adequate oral intake 

476
Q

What is marasmus?

A

Significant wasting due to low energy and protein intake

477
Q

What is failure to thrive?

A

Insufficient weight gian or inappropriate growthin infants and childrenManifestation of underlying medical and social issues

478
Q

What is Meckel’s diverticulum?

A

Congenital diverticulum of the small intestine

479
Q

What is the rule of 2’s Meckel’s diverticulum

A

2:1 M:F ratioTypically 2 inches long2 feet proximal to caecum2% of population

480
Q

What is the most common cause of painless massive GI bleed in those between 1-2 yrs old

A

Meckel’s diverticulum

481
Q

What is infantile colic?

A

Very common and benign set of symptoms of unknown cause 

482
Q

What age is usually aggected by infantile colic?

A

<3 months old

483
Q

What is a choledochal cyst?

A

Swelling/dilatation of the bile ductsUsually common bile duct and hepatic ducts, rarely intrahepatic ducts

484
Q

What is neonatal hepatitis?

A

Inflammation of live in newborns(1-2 mths post birth)

485
Q

What is a hernia?

A

Protrusion of an internal organ through its containing wall(usually abdominal wall)

486
Q

What are the types of hernias based on status of bowel?

A

Reducible herniaStrangulated herniaIncarcerated hernia

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