Selected Notes paeds 3

Question 1

What is androgen insensitivity syndrome?

Answer 1

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

Question 2

What causes androgen insensitivity syndrome?

Answer 2

Mutation in the <b><i>androgen receptor gene</i></b><span> on the </span><b><i>X chromosome<font><span>-&gt; extra androgens converted into oestrogen-&gt; female secondary characteristics</span></font></i></b>

Question 3

What is partial androgen insensitivity syndrome?

Answer 3

Cells have a partial response to androgens<br></br>

Question 4

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

Answer 4

Testicular cancer due to undescended testes

Question 5

What causes Fragile X syndrome?

Answer 5

<ul><li>Genetics</li><li>Mutation in FMR1 gene located on the X chromosome</li></ul>

Question 6

What is Kawasaki disease?

Answer 6

System, medium sized vasculitis that predominantly affects children

Question 7

What is a key feature of kawasaki disease?

Answer 7

<ul><li>Persisten high grade fever (&gt;39 degrees) for more than 5 days</li></ul>

Question 8

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

Answer 8

<ul><li>Widespread ethythematous maculopapular rash and desquamation (skin peeling) on palms and soles</li></ul>

Question 9

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

Answer 9

<ul><li>Typically clinical diagnosis</li><li>FBC: anaemia, leukocytosis and thrombocytosis</li><li>LFT's: hypoalbuminaemia and elevated liver enzymes</li><li>HIGH ESR, may have other raised inflammatory markers</li><li>Urinalysis: raised WC without infection</li><li>Echo: coronary artery pathologu</li></ul>

Question 10

What is the main complication of Kawasaki’s disease?

Answer 10

<ul><li>Coronary artery aneurysm-monitor with echos</li></ul>

Question 11

What is measles?

Answer 11

<ul><li>Highly contagious disease caused by the measles morbillvirus</li></ul>

Question 12

What are Koplik spots?

Answer 12

<ul><li>Small grey discolourations of the muscoal membranes in the mouth, characteristic of measles</li><li><br></br></li></ul>

Question 13

What investigations should be done for suspected measles?

Answer 13

<ol><li>Measles specific IgM and IgG serology(ELISA) within a few days of rash onset</li><li>Measles RNA detection by PCR</li></ol>

Question 14

What is chicken pox and what is it caused by?

Answer 14

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

Question 15

What is the incubation period of chicken pox?

Answer 15

10-21 days

Question 16

What is the infectivity period of someone with chicken pox?

Answer 16

<ul><li>4 days before rash until 5 days after rash appears</li></ul>

Question 17

What are the clinical features of chicken pox?

Answer 17

<ul><li>Fever initially</li><li>Itchy rash which starts on head/trunk and spreads. Begins as a macular then papular then vesicular</li><li>Mild fever, fatigue, loss of appetite and general discomfort</li></ul>

Question 18

What are some differential diagnoses for chicken pox?

Answer 18

<ul><li>Herpes simplex</li><li>Hand, foot and mouth disease</li><li>Scabies</li></ul>

Question 19

What is the most common complication of chicken pox?

Answer 19

<ul><li>Secondary bacterial infeciton of the lesions due to scratching</li></ul>

Question 20

What can secondary bacterial infection of chickenpox rash result in?

Answer 20

<ul><li>Invasive group A streptococcal soft tissue infection-&gt; necrotizing fascitis</li></ul>

Question 21

What are some complications of chicken pox?

Answer 21

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

Question 22

What is Reye’s syndrome?

Answer 22

<ul><li>Rare but serious condition that affects children and teenagers recovering from a viral infection</li><li>Swelling in liver and brain-&gt;vomiting, confusion, seizures and LOC</li></ul>

Question 23

What is rubella caused by?

Answer 23

<ul><li>Rubella togavirus</li></ul>

Question 24

What is the incubation period for rubella?

Answer 24

<ul><li>14-21 days</li></ul>

Question 25

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

Answer 25

<div>Congenital rubella syndrome-fetal anomalies such as:</div>

<div><ul><li>Cataracts</li><li>Deaffness</li><li>Patent ductus arteriosus</li><li>Brain damage</li></ul></div>

Question 26

What causes diphtheria?

Answer 26

<ul><li>Gram positive bacterium Corynobacterium diphtaeriae</li></ul>

Question 27

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

Answer 27

<ul><li>Grey, pseudomembran on posterior pharyngeal wall</li></ul>

Question 28

What is scalded skin syndrome?

Answer 28

<ul><li>Severe desquamating rash that primarily affects infants</li></ul>

Question 29

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

Question 30

What causes whooping cough?

Answer 30

<ul><li>Bordatella pertussis-gram negative bacterium</li></ul>

Question 31

What are the different phases of whooping cough?

Answer 31

Catarrhal phase:<br></br><ul><li>Viral infection symtpoms, last 1-2 weeks</li></ul><div>Paroxysmal phase:</div><div><ul><li>Cough increases in severity, 2-8 weeks</li></ul><div>Convalescent phase:</div></div><div><ul><li>Cough subsides over weeks to months</li></ul></div>

Question 32

What causes the inspiratory whoop in whooping cough?

Answer 32

<ul><li>Forced inspiration agaist a closed glottis</li></ul>

Question 33

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

Answer 33

<ul><li>Usually worse at night and after feeing</li></ul>

Question 34

What are some differential diagnoses for whooping cough

Answer 34

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

Question 35

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

Answer 35

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

Question 36

What is the diagnostic criteria for whooping cough?

Answer 36

Acute cough that has lasted at least 14 days and >=1 of:<br></br><ul><li>Paroxysmal cough</li><li>Inspiratory whoop</li><li>Post-tussive vomiting</li><li>Undiagnosed apnoeic attackes in young infants</li></ul>

Question 37

What are some ocmplications of whooping cough

Answer 37

<ul><li>Subconjunctival heamorrhage</li><li>Pneumonia</li><li>Bronchiectasis</li><li>Seizures</li></ul>

Question 38

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

Answer 38

<ul><li>Group B strep-usually acquired at birth</li><li>E.Coli and other gram negative organisms</li><li>Listeria monocytogenes</li></ul>

Question 39

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

Answer 39

<ul><li>Neisseria meningitidis</li><li>Strep pneumoniea</li><li>H.influenzae</li></ul>

Question 40

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

Answer 40

<ul><li>Neisseria meningitidis</li><li>Streptococcus pneumoniea</li></ul>

Question 41

What is the most common fungal causative organism of meningitis?

Answer 41

<ul><li>Cryptococcus neoformans</li></ul>

Question 42

What are some contraindications to doing a LP?

Answer 42

Signs of raised ICP:<br></br><ul><li>Focal neurological signs</li><li>Papilloedema</li><li>Significant bulging of the fontanelle</li><li>DIC/meningococcal sepcitcaemia</li><li>Signs of cerebral herniation</li></ul>

Question 43

What investigation should be done in patients with meningococcal scepticaemia?

Answer 43

<ul><li>Blood cultures and PCR for meningococcus&nbsp;</li><li>NOT LP</li></ul>

Question 44

What are some differential diagnoses for meningitis?

Answer 44

<ul><li><strong>Encephalitis</strong>: Characterized by altered mental status, fever, and early seizures. However, unlike meningitis, it primarily involves the brain parenchyma rather than the meninges.</li><li><strong>Subarachnoid hemorrhage</strong>: 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.</li></ul>

Question 45

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

Answer 45

Ciprofloxacin

Question 46

What is slapped cheek syndrome also known as?

Answer 46

<ul><li>Fifth disease</li><li>Eryhtema infectiosum</li></ul>

Question 47

What causes Fifth disease?

Answer 47

<ul><li>Parvovirus B19</li></ul>

Question 48

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

Answer 48

<ul><li>Erythroid progenitor cells-&gt;haematological complications</li></ul>

Question 49

What happens to the slapped cheek rash over time?

Answer 49

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

Question 50

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

Answer 50

<ul><li>Can affect unborn baby in first 20 weeks</li><li>Check IgM and IgG(maternal)</li></ul>

Question 51

What complications might arise from Fifth’s disease?

Answer 51

<ul><li>Red cell aplasia-aplastic crisis especially unvulnerable groups(sickle cell, hereditary spherocytosis)</li><li>Severe foetal anaemia</li><li>Cardiomyopathy</li></ul>

Question 52

What is pneumonia?

Answer 52

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

Question 53

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

Answer 53

<ul><li>Mycobacterium tuberculosis</li></ul>

Question 54

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

Answer 54

<ul><li>Localised chest and abdominal pain</li><li>Neck pain-&gt; signs of pleural irritation</li></ul>

Question 55

Name some signs of pneumonia in children?

Answer 55

<ul><li>Tachypnoea, nasal flaring, chest indrawing, hypoxia</li><li>Dullness on percussion, decreased breath sounds, bronchial breathing</li><li>End-inspiratory respiratory coarse crackles</li><li>Wheeze and hyperinflation-&gt;viral infection</li></ul>

Question 56

What investigations might be done to diagnose pneumonia in children?

Answer 56

<ul><li>CXR: consolidation, parapneumonic effusion, empyema</li><li>Nasopharyngeal aspirate in younger children to ID viral causes</li></ul>

Question 57

What is asthma?

Answer 57

<ul><li>Common, long term inflammatory disease of the airways characterised by reversible airway obstruction and bronchospasm</li></ul>

Question 58

What investigations might be used to diagnose asthma?

Answer 58

<ul><li>Spriometry</li><li>FeNO levels</li><li>PEFR to look at day to day variability and diurnal variability</li><li>CXR to rule out other causes</li><li>Skin prick testing for allergens-&gt;atopy and identify triggers</li></ul>

Question 59

What is an LTRA and give an example

Answer 59

<ul><li>Leukotriene receptor antagonist</li><li>Montelukaus</li></ul>

Question 60

What are the features of moderate acute asthma?

Answer 60

<ul><li>O2&gt;92%</li><li>Peak flow: &gt;50% predicted</li><li>No symptoms of severe asthma</li></ul>

Question 61

What is croup?

Answer 61

<ul><li>Also called laryngotracheobronchitis</li><li>Inflammation and swelling of larynx, trachea and bronchi leading to partial obstruction or the upper airway.</li><li>Particularly leads to oedema of the subglottic area resulting in narrowing of the trachea</li></ul>

Question 62

What is the most common cause of croup?

Answer 62

<ul><li>Parainfluenza virus</li></ul>

Question 63

What are some causes of croup?

Answer 63

<ul><li>Parainfluenza virus</li><li>Adenovirus</li><li>Influenza</li><li>RSV</li><li>Bacterial causes are less common but more severe</li></ul>

Question 64

What are some of the broad features of croup?

Answer 64

<ul><li>1-4 days history of non-specific rinorrhoea, fever and barking cough</li><li>Worse at night</li><li>Stridor</li><li>Tachypnoea</li><li>Descreased bilateral air entry</li><li>Costal recession</li></ul>

Question 65

What investigations might be used to diagnose croup?

Answer 65

<ul><li>FBC, CRP, U&amp;Es</li><li>Viral PCR to ID virus</li><li>CXR: 'steeple sign' and excludes foreign body aspiration as differential</li></ul>

Question 66

What are some differentials for croup?

Answer 66

<ul><li>Epiglottitis-&gt;no barking cough</li><li>Foreign body aspiration</li><li>Bacterial tracheitis-&gt; high fever, severe respiratory distress</li><li>Asthma</li></ul>

Question 67

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

Answer 67

<12 months as they already have a narrower airway

Question 68

What is bronchiolitis?

Answer 68

<ul><li>Viral infection of the bronchioles that causes inflammation and congestion</li></ul>

Question 69

What age group does bronchiolitis mostly affect?

Answer 69

<ul><li>1-9 months</li></ul>

Question 70

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

Answer 70

<ul><li>Respiratory rate &gt;60</li><li>Clinical dehydration</li></ul>

Question 71

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

Answer 71

<ul><li>Apnoea</li><li>Repsiratory rate &gt;70</li><li>Central cyanosis</li><li>SPO2&lt;92%</li></ul>

Question 72

What is the prophylaxis for bronchiolitis?

Answer 72

<ul><li>Palvizumab vaccine&nbsp;</li></ul>

Question 73

What is the main complication of bronchiolitis?

Answer 73

<ul><li>Bronchiolitis obliterans(popcorn lung)</li></ul>

Question 74

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

Answer 74

<ul><li>CXR</li><li>CT</li><li>Biopsy</li><li>Pulmonary function tests</li><li>&lt;FEV1</li></ul>

Question 75

What is cyctic fibrosis?

Answer 75

<ul><li>Progressive, autosomal recessive disorder that cuases persistent lung infections and limits the ability to breathe over time</li></ul>

Question 76

What group of people is cystic fibrosis most common in?

Answer 76

<ul><li>Caucasians-1/25 people in UK have mutation</li></ul>

Question 77

What is acute epiglottitis?

Answer 77

<ul><li>Rapidly progressing infection that leads to inflammation of the epiglottis and adjacent tissue-&gt; blockage of upper airway-&gt; death</li></ul>

Question 78

What age is most affected by acute epiglottitis?

Answer 78

Age 1-6 years

Question 79

What causes acute epiglottitis?

Answer 79

<ul><li>Haemophilius Influenzae type B</li></ul>

Question 80

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

Answer 80

<div><ul><li>DO NOT EXAMINE THROAT-&gt; risk of triggering airway obstruction</li><li>Involve senior clinicians-&gt; direct visualisation of inflamed epiglottis-done using laryngoscopy&nbsp; after securing airway</li><li>X-ray-&gt; lateral: thumb sign, posterior: anterior steeple&nbsp;</li><li>Cultures: ID causative organism</li></ul></div>

Question 81

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

Answer 81

<ul><li>Asthma</li></ul>

Question 82

What age group is most affected by viral induced wheeze?

Answer 82

<ul><li>~&lt; 3 years</li></ul>

Question 83

What is the difference between viral induced wheeze and asthma?

Answer 83

Viral induced wheeze:<br></br><ul><li><3 years</li><li>No history of atopy</li><li>Only occurs during viral infections</li></ul>

Question 84

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

Answer 84

<ul><li>Episodic wheeze: symptoms of viral URTI, symptom free between events</li><li>Multiple trigger wheeze: URTI and other factors trigger wheeze</li></ul>

Question 85

What is otitis media?

Answer 85

<ul><li>Infection of the middle ear</li></ul>

Question 86

What causes otitis media?

Answer 86

<div>Most commonly bacteria:</div>

<div><ul><li>S.pneumoniae, H.influenzae, heamolytic streptococcus</li></ul><div>Viruses:</div></div>

<div><ul><li>RSV, corona, denovirus, rhinovirus</li></ul></div>

Question 87

What are the different types of otitis media?

Answer 87

<ul><li>Acute otitis media</li><li>Acute otitis media with effusion(becomes chronic)</li><li>Chronic otitis media</li><li>Chronic secretory otitis media(glue ear)</li><li>Chronic suppurative otitis media</li></ul>

Question 88

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

Answer 88

<ul><li>Clinical-&gt;physical exam of tympanic membrane through otoscopy</li><li>Tympanometry(pressure)</li><li>Assess presence of systemic illness</li></ul>

Question 89

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

Answer 89

<ul><li>&lt;3 months and temperature &gt;38 degrees</li><li>Suspected complications-&gt; meningitis, mastoiditis, facial nerve palsy etc</li><li>Systemically unwell or increased risk of complication</li></ul>

Question 90

What antibiotics are used to treat otitis media?

Answer 90

<ul><li>Amoxicillin for 5-7 days</li><li>If no imrpovement: co-amoxiclav</li></ul>

Question 91

What is otitis media with effusion?

Answer 91

<ul><li>Glue ear</li><li>Infection and inflammation or the middle ear resulting in the accumulation of lfuid</li></ul>

Question 92

What can otitis media with effusion result in?

Answer 92

<ul><li>Hearing loss, speech and language delays, bheavioural issues due to blockage of the eustachian tube</li></ul>

Question 93

What is periorbital cellulitis?

Answer 93

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

Question 94

What is orbital cellulitis?

Answer 94

Serious infection of the soft tissues behind the orbital septum<br></br>Life threatening: usually bacterial sinusitis

Question 95

What is the difference between periorbital cellulitis and orbital cellulitis?

Answer 95

<ul><li>Periorbital: doesn't affect the contents of orbit, just the soft tissues</li><li>Orbital: affects the muscls of orbit</li></ul>

Question 96

What causes periorbital cellulitis?

Answer 96

Infection spreads from nearby sites, most commonly sinusitis or RTI’s<br></br><ul><li>S.aureus</li><li>S.epidermis</li><li>Streptococci and anaerobic bacteria</li><li>S.pyogenes</li></ul>

Question 97

What investigations might be used to diagnose periorbital cellulitis?

Answer 97

<ul><li>Clinical exam</li><li>Bloods-&gt; raised inflammatory markers</li><li>Swabs of discharge</li><li>Contrast CT of sinus and orbits-&gt; differentiate between preseptal.orbital</li></ul>

Question 98

What is strabismus?

Answer 98

<ul><li>Squint</li><li>Misalignment of the eyes-&gt; images on retine don't mathc-&gt; diplopia</li></ul>

Question 99

What are the 2 types of squint?

Answer 99

Concomitant squints<br></br>Paralytic squints

Question 100

What are concomitant squints?

Answer 100

<ul><li>Imbalance in extra ocular muscles (convergent&gt;divergent)</li><li><br></br></li></ul>

Question 101

What are paralytic squints?

Answer 101

<ul><li>Paralysis in at least 1 extraocular muscle-&gt; rare</li></ul>

Question 102

What is ambylopia?

Answer 102

<ul><li>Affected eye becomes increasingly passive and loses function compared to other eye</li></ul>

Question 103

What is esotropia?

Answer 103

Inward positioned squint(affected eye towards nose)

Question 104

What is exotropia?

Answer 104

<ul><li>Outward positioned squint(towards ear)</li></ul>

Question 105

What is hypotropia?

Answer 105

<ul><li>Downward movign affected eye</li></ul>

Question 106

What is hypertropia?

Answer 106

<ul><li>Upward moving affeced eye</li></ul>

Question 107

What investigations might be done to diagnose a squint?

Answer 107

<ul><li>Inspection</li><li>Eye movemebts</li><li>Visual acuity</li><li>Fundoscopu-&gt; look for red reflex to rule out retinal pathology</li><li>Hirschberg's test</li><li>Cover test</li></ul>

Question 108

What is impetigo?

Answer 108

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

Question 109

What are the most common causes of impetigo?

Answer 109

<ul><li>S.aureus</li><li>S.pyogenes</li></ul>

Question 110

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

Answer 110

<ul><li>Infants</li><li>School age children</li></ul>

Question 111

What condition is this likely to be?<br></br><img></img>

Question 112

What are the different types of impetigo?

Answer 112

<ol><li>Bullous-causing large blisters</li><li>Non-bullous-Causing sores</li></ol>

Question 113

What bacteria causes bullous impetigo

Answer 113

<ul><li>S. aureus ALWAYS</li></ul>

Question 114

Should children with impetigoe be kept off school?

Answer 114

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

Question 115

What causes scarlet fever?

Answer 115

<ul><li>Group A haemolytic strep-S.pyogenes</li></ul>

Question 116

What is the incubation period of scarlet fever

Answer 116

<ul><li>2-4 days</li></ul>

Question 117

What are the 3 shunts in fetal circulation?

Answer 117

<ul><li>Ductus venosus</li><li>Foramen ovale</li><li>Ductus arteriosus</li></ul>

Question 118

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

Answer 118

<ul><li>Connects umbilical vein to inferior vena cava</li><li>Bypass liver</li></ul>

Question 119

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

Answer 119

<ul><li>Between right atrium and left atrium</li><li>Blood bypasses the right ventricle and pulmonary circulation</li></ul>

Question 120

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

Answer 120

<ul><li>Pulmonary artery with aorta</li><li>Blood bypasses pulmonary circulation</li></ul>

Question 121

What does the ductus venosus become?

Answer 121

<ul><li>Ligamentim venosum</li></ul>

Question 122

What does the ductus arteriosus become when it closes?

Answer 122

<ul><li>Ligamentum arteriosum</li></ul>

Question 123

What does the foramen ovale become?

Answer 123

<ul><li>Fossa ovalis</li></ul>

Question 124

What group are innocent murmus most common in?

Answer 124

Children

Question 125

What causes innocent murmurs?

Answer 125

<ul><li>Fast blood flow through areas of the ehart during systole</li></ul>

Question 126

What are the features of an innocent murmur?

Answer 126

<ul><li>Soft</li><li>Short</li><li>Systolic</li><li>Symptomless</li><li>Situation dependent-&gt; quieter with standing, only appears when ill or feverish</li></ul>

Question 127

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

Answer 127

<ul><li>ECG</li><li>CXR</li><li>Echo</li></ul>

Question 128

What are the differentials of a pan-systolic murmur?

Answer 128

<ul><li>Mitral regurgitation</li><li>Tricuspid regurgitation</li><li>VSD</li></ul>

Question 129

What causes cyanotic heart disease?

Answer 129

Right to left shunt<br></br><ul><li>Allows deoxygenated blood fromm the right side of the heart into the left so it enters systemic circulation</li></ul>

Question 130

What is Eisenmenger syndrome?

Answer 130

<ul><li>Pulmonary pressure increases beyond the systemic pressure</li><li>Blood flows from right to left across the defect causing cyanosis</li></ul>

Question 131

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

Question 132

What are the different types of atrial spetal defects?

Answer 132

<ul><li>Ostium secondum</li><li>Patent foramen ovale</li><li>Ostium primum-leads to AV wall defect</li></ul>

Question 133

What are some complications of an atrial spetal defect?

Answer 133

<ul><li>Stroke-VTE</li><li>AF/atrial flutter</li><li>Pulmonary hypertension and right heart failure</li><li>Eisenmenger syndrome</li></ul>

Question 134

What is splitting of the second heart sound?

Answer 134

<ul><li>Closure of aortic and pulmonary valves at slighlty different times</li></ul>

Question 135

What is meant by a fixed split?

Answer 135

<ul><li>Second heart sound split does not change with inspiration or expiration</li></ul>

Question 136

What conditions is coarctation of the aorta associated with?

Answer 136

<ul><li>Turner's&nbsp;</li><li>Bicuspid aortic valve</li><li>Berry aneurysms</li><li>Neurofibromatosis</li></ul>

Question 137

What conditions are coarctation of the aorta commonly associated with?

Answer 137

<ul><li>Down's syndrome</li><li>Turner's syndrome</li></ul>

Question 138

Name some symptoms of a VSD in a neonate

Answer 138

<ul><li>Poor feeding</li><li>Dyspnoea</li><li>Tachypnoea</li><li>Failure to thrive</li></ul>

Question 139

What are patients with VSDs at increased risk of?

Answer 139

<ul><li>Infective endocarditis-use antibiotic prophylaxis</li></ul>

Question 140

What are the 4 coexisting pathologies in tetralogy of fallot?

Answer 140

<ol><li>VSD</li><li>Overriding aorta</li><li>Pulmonary valve stenosis</li><li>RVH</li></ol>

Question 141

What is meant by ‘overriding aorta’?

Answer 141

<ul><li>Entrance to aorta(aortic valve) is placed further to the right than normal, above the VSD</li></ul>

Question 142

What causes right ventricular hypertrophy in tetralogy of fallot?

Answer 142

<ul><li>Increased strain on muscular wall of the right ventricle as it attempts to pump blood against the resistance of the left ventricle</li></ul>

Question 143

Name some risk factors for tetralogy of fallot

Answer 143

<ul><li>Rubella</li><li>Increased maternal age</li><li>Alcohol consumption in pregnancy</li><li>Diabetic mother</li></ul>

Question 144

What investigations are used to diagnose tetralogy of fallot?

Answer 144

<ul><li>Echo with doppler flow studies</li><li>CXR: boot shaped heart</li></ul>

Question 145

Name some symptoms of tetralogy of fallot

Answer 145

<ul><li>Cyanosis</li><li>Clubbing</li><li>Poor feeding</li><li>Ejection systolic murmur heard loudest at the pulmonary area</li><li>Heart failure symptoms</li><li>Tet spells</li></ul>

Question 146

What are tet spells?

Answer 146

<ul><li>Intermittent episodes where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode</li><li>Happens when pulmonary vascular resistance increases or systemic resistance decreases, blood pumps from right ventricle to aorta and bypassess lungs</li></ul>

<br></br>

Question 147

Name some things that can trigger tet spells

Answer 147

<ul><li>Waking</li><li>Physical exertion</li><li>Crying</li></ul>

Question 148

What can severe tet spells result in?

Answer 148

<ul><li>Reduced consciousness</li><li>Cyanosis</li><li>Shortness of breath</li></ul>

Question 149

Name the signs of transposition of the great arteries

Answer 149

<ul><li>Loud single S2</li><li>Prominent RV impulse</li><li>'Egg on side' appearance on CXR</li></ul>

Question 150

What is Ebstein’s anomaly?

Answer 150

<ul><li>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</li><li><img></img><br></br></li></ul>

Question 151

What is Ebstein’s anomaly associated with?

Answer 151

<ul><li>Exposure to lithium in pregnancy</li><li>Patent foramen ovale and atrial septal defect</li><li>Wolff-Parkinson White syndrome</li></ul>

Question 152

Name the signs of Ebstein’s anomaly

Answer 152

<ul><li>Gallop rhythm on auscultation-addition of 3rd and 4th heart sounds</li><li>Hepatomegaly</li><li>Prominent 'a' wave in distended jugular venous pulse</li><li>Tricuspid regurg-&gt;pansystolic murmur worse on inspiration</li><li>RBBB-&gt; widely split S1 and S2</li></ul>

Question 153

What is congenital aortic valve stenosis?

Answer 153

<ul><li>Narrow aortic valve that restricts blood flow through the left ventricle into the aorta</li></ul>

Question 154

Name some signs of congenital aortic valve stenosis

Answer 154

<ul><li>Crescendo decrescendo ejection systolic murmur(2nd IC, Right, radiates to carotids)</li><li>Ejeciton click</li><li>Palpable thrill</li><li>Slow rising pulse and narrow pulse pressure</li></ul>

Question 155

What is congenital pulmonary valve stenosis?

Answer 155

<ul><li>Leaflets of pulmonary valve develop abnormally, becoming thickened or fused-&gt; narrow openign between RV and pulmonary artery</li></ul>

Question 156

What conditions is congenital pulmonary valve stenosis associated with?

Answer 156

<ul><li>Tetralogy of Fallot</li><li>William syndrome</li><li>Noonan syndrome</li><li>Congenital rubella syndrome</li></ul>

Question 157

Name the signs of congenital pulmonary valve stenosis

Answer 157

<ul><li>Ejection systolic murmur heard loudest at 2nd IC L sternal border(pulmonary area)</li><li>Palpable thrill-pulmonary area</li><li>Right ventricular heave due to RVH</li><li>Raised JVP and giant a waves</li></ul>

Question 158

Until what age is nocturnal enuresis considered normal until?

Answer 158

5 years

Question 159

What is primary nocturnal enuresis?

Answer 159

<ul><li>Child has never achieved continence before</li></ul>

Question 160

What is secondary nocturnal enuresis?

Answer 160

<ul><li>Child has been dry for at least 6 months before</li></ul>

Question 161

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

Answer 161

<ul><li>Detailed history, exam and urine disptick</li><li>Might also consider: renal US, urine osmolality etc to check for other causes</li></ul>

Question 162

What is haemolytic uraemic syndrome?

Answer 162

<ul><li>Renal limited form of thrombotic microagniopathy</li></ul>

Question 163

What causes secondary/typical haemolytic uraemic syndrome?

Answer 163

<ul><li>Shiga toxin producing E.Coli</li><li>Also pneumococcal infection, HIV, SLE</li></ul>

Question 164

What causes primary/typical haemolytic uraemic syndrome?

Answer 164

<ul><li>Complement dysregulation</li></ul>

Question 165

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

Answer 165

<ul><li>FBC: Hg&lt;8, negative Coombs test, thrombocytopenia, high platelets</li><li>Fragmented blood film-schistocytes and helmet cells</li><li>U%E's: AKI-high urea and creatinine</li><li>Stool culture: evidence of STEC infection, PCR for Shiga toxins</li><li>Normal coagulation studies</li></ul>

Question 166

What is a urinary tract infections?

Answer 166

<ul><li>Infection in any area of the urinary tract-&gt;kidneys, ureters, bladder, urethra</li></ul>

Question 167

What investigations should be done for a suspected UTI?

Answer 167

<ul><li>Urine disptick-leukocytes and nitrites</li><li>Culture using appropriately collected urine</li></ul>

Question 168

What investigations are done to diagnose vesicoureteric reflux

Answer 168

<ul><li>US KUB</li><li>Voiding cystourethrogram(VCUG) or nuclear cystogram(visualise refluz of urine from bladder)</li></ul>

Question 169

What is the most common presenting symptoms of Wilms’ tumour

Answer 169

Palpable abdominal mass<br></br><ul><li>Usually doesn’t cross the midline</li><li>Can be bilateral in <5% of cases</li></ul>

Question 170

Name some symptoms of Wilms’ tumour

Answer 170

<ul><li>Palpable abdominal mass</li><li>Abdominal distention</li><li>Painless haematuria</li><li>Hypertesnion</li><li>Flank pain</li><li>Systemic: anorexia, fever</li><li>Metastases- 20% to the lung</li></ul>

Question 171

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

Answer 171

<ul><li>Lung</li></ul>

Question 172

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

Answer 172

Unexplained large abdominal mass-> REVIEW by paediatrician within 48hours<br></br><ul><li>CT chest, abdo, pelvis</li><li>Renal biopsy-> definitive</li></ul>

Question 173

<b>Staging of </b>Wilms’ tumour<br></br>1) Tumour confined to kidney<br></br>2)Extrarenal spread but resectable<br></br>3) Extensive abdominal disease<br></br>4)Distant metastases<br></br>5) Bilateral metastases

Question 174

What is the prognosis for a Wilms’ tumour

Answer 174

<ul><li>Good: 80-90% cure rate</li></ul>

Question 175

What is cryptorchidism?

Answer 175

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

Question 176

What is the difference between cryptorchidism and retractile testis

Answer 176

Retractile testis can be manipulated into scrotum and are sometimes there

Question 177

What is included in an orchidopexy

Answer 177

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

Question 178

What are the reasons for operating on a patient with cryptorchidism

Answer 178

<ul><li>Lowers risk of infertility</li><li>Undescended testes-&gt; 40 times as likely to develop seminomas</li><li>Allows testes to be examined for cancers</li><li>Avoid testicular torsion</li><li>Cosmesis</li></ul>

Question 179

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

Answer 179

<ul><li>Higher the testes in the abdomen the higher the risk fo developing seminomas</li></ul>

Question 180

What is hypospadias?

Answer 180

<ul><li>Congenital abnormality where the urethra is abnormally located on the ventral(underside) of the penis</li></ul>

Question 181

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

Answer 181

<ul><li>Distal ventral side</li></ul>

Question 182

What conditions is<b> </b>hypospadias associated with?

Answer 182

<ul><li>Cryptorchidism(10%)</li><li>Inguinal hernia</li></ul>

Question 183

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

Answer 183

<ul><li>Should not be circumcised-&gt; foreskin used in procedure</li></ul>

Question 184

What is phimosis?

Answer 184

<ul><li>Non-retractable foreskin with associated scarring that will not resolve spontaneously&nbsp;</li><li>Normal in infants and young children</li></ul>

Question 185

What is paraphimosis?

Answer 185

<ul><li>Foreskin can't return to original position after being retracted</li></ul>

Question 186

What is nephrotic syndrome?

Answer 186

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

Question 187

What is the classic triad of nephrotic syndrome?

Answer 187

<div><ol><li>Proteinuria(&gt;3g/24hr)</li><li>Hypoalbuminaemia(&lt;30g/L)</li><li>Oedema</li></ol><div><br></br></div></div>

<div>Also hyperlipidaemia and lipiduria</div>

Question 188

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

Answer 188

<ul><li>Minimal change disease</li></ul>

Question 189

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

Answer 189

<ul><li>Membranous nephropathy</li></ul>

Question 190

Name some secondary causes of nephrotic syndrome

Answer 190

<ul><li>Diabetes</li><li>SLE</li><li>Amyloidosis</li><li>Infections: HIV/Hep B/C</li><li>Drugs: NSAIDs</li></ul>

Question 191

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

Answer 191

<ul><li>Urine disptick-&gt; proteinuria and check for microscopic haematuria</li><li>MSU-&gt; exclude UTI</li><li>Urine analysis-&gt; increased ACR ratio</li><li>Renal biopsy if atypical presentation</li><li>FBC/coag screen/U&amp;Es</li></ul>

Question 192

What age group does minimal change disease usually affect?

Answer 192

1-8 years

Question 193

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

Answer 193

<ul><li>Urine dipstick and analysis: proetinuria, haematuria, exclude UTI</li><li>Bloods: Low albumin, high cholesterol</li><li>Kidney biopsy and microscopy</li></ul>

Question 194

What are the key features of nephritic syndrome

Answer 194

<ul><li>Haematuria(either microscopic or macroscopic)</li><li>Oliguria</li><li>Proteinuria</li><li>Fluid retention and oedema(less severe than in nephrotic)</li><li>Hypertension</li></ul>

Question 195

What is the most common cause of primary glomerulonephritis?

Answer 195

<ul><li>IgA nephropathy</li></ul>

Question 196

What age groupd is IgA nephropathy most commonly seen in?

Answer 196

<ul><li>Aged 20-30 years</li></ul>

Question 197

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

Answer 197

<ul><li>Urinalysis and MC+S: blood/protein</li><li>GS: renal biopsy and immunofluorescence-&gt; diffuse mesangial IgA immune complex deposition</li><li>Serum IgA levels high in about 50%</li></ul>

Question 198

What conditions are associated with IgA nephropathy?

Answer 198

<ul><li>Alcoholic cirrhosis</li><li>Coeliac disease/dermatitis herpetiformis</li><li>Henoch-Schonlein purpura</li></ul>

Question 199

What is post strep glomerulonephritis?

Answer 199

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

Question 200

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

Answer 200

<ul><li>Children more than adulta</li></ul>

Question 201

What causes post strep glomerulonephritis?

Answer 201

<ul><li>Specific strains of Group A beta haemolytic streptococci</li></ul>

Question 202

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

Answer 202

<ul><li>Urinalysis: blood and maybe protein</li><li>Urine microscopy: dysmorphic RBCs(bleeding from glomerulus)</li><li>FBC: raised WCC</li><li>U&amp;E's: AKI</li><li>Ig's</li><li>Complements: low C3</li><li>Antibodies: raised anti-streptolysin and DNAase B</li><li>GS: renal biopsy</li></ul>

Question 203

Name some symptoms of rapidly progressive glomerulonephritis

Answer 203

<ul><li>Oliguria</li><li>Haematuria</li><li>Proteinuria</li><li>Hypertension</li><li>Oedema</li><li>Loss of appetite</li></ul>

Question 204

What is rapidly progressive glomerulonephritis?

Answer 204

<ul><li>Subtype of glomerulonephritis that progresses to end stage renal failure in weeks to months</li></ul>

Question 205

What is hypogonadism?

Answer 205

<ul><li>Endocrine disorder where the testes produce insufficient sex hormones, particularly testosterone</li></ul>

Question 206

Name some risk factors for hypogonadism

Answer 206

<ul><li>Obesity</li><li>Chronic medical conditions: T2DM, HIV</li><li>Genetic disorders</li><li>Treatments for prostate cancer</li><li>Age</li><li>Male</li></ul>

Question 207

What health issues is hypogonadism associated with?

Answer 207

<ul><li>Infertility</li><li>Osteoporosis</li><li>Gynaecomastia</li></ul>

Question 208

What investigations might be done in a patient with hypogonadism?

Answer 208

<ul><li>Usual bloods</li><li>Bone profile</li><li>Fasting lipids and glucose</li><li>PSA</li><li>Oestrogen, testosterone, sex hormone binding globulin, LH, FSH</li><li>Prolactin</li><li>TSH, T3, T4</li><li>Cortisol</li><li>MRI of pituitary</li><li>CXR</li><li>DEXA scan</li><li>Karyotyping</li></ul>

Question 209

What is Klinefelter syndrome?

Answer 209

<ul><li>Male as additional X chromosome: 47XXY</li></ul>

<div>Can rarely also be 48XXXY or 49XXXXY-more severe</div>

Question 210

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

Answer 210

<ul><li>Breast cancer(compared ot other males but risk still low)</li><li>Osteoporosis</li><li>Diabetes</li><li>Anxiety and depression</li></ul>

Question 211

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

Answer 211

Horseshoe kidney

Question 212

What cardiology conditions are associated with Turner’s syndrome?

Answer 212

<ul><li>Bicuspid aortic valve(15%)</li><li>Coarctation of the aorta(5-10%)</li></ul>

Question 213

What conditions are associated with Turner’s syndrome?

Answer 213

<ul><li>Recurrent otitis media</li><li>Recurrent UTI</li><li>Coarctation of aorta</li><li>Hypothyroidism</li><li>Hypertension</li><li>Diabetes</li><li>Osteoporosis</li><li>Specific learnign difficulties</li><li>Increased incidence of AI conditions like AI thyroiditis and Crohn's</li></ul>

Question 214

What is Down’s syndrome?

Answer 214

<ul><li>Genetic condition resulting from the presence of 3 copis of chromosome 21 instead of 2</li><li>Trisomy 21</li></ul>

Question 215

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

Answer 215

<ol><li>Gamete non-disjunction-mc, associated with increasing maternal age</li><li>Robertsonian translocation-4%</li><li>Mosaic Down syndrome-lc</li></ol>

Question 216

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

Answer 216

<ul><li>1st line and most accurate</li><li>US: nuchal translucency(Down's: &gt;6mm)</li><li>Maternal bloods: B-HCG(higher), pregnancy associated plasma protein A(lower)</li></ul>

Question 217

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

Answer 217

<ul><li>Chorionic villus sampling(CVS): US guided biopsy of placental tissue-done before 15 weeks</li><li>Amniocentesis-&gt; US guided aspiration of amniotic fluid(done later on)</li></ul>

Question 218

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

Answer 218

<ul><li>Blood test from mother, will contrain fragments of DNA and some will come fromplacental tissue and represent fetal DNA-&gt; analysed to detect Down's</li></ul>

Question 219

What are the key features of Edward’s syndrome?

Answer 219

<ul><li>Micrognathia(lower jaw smaller than normal)</li><li>Low-set ears</li><li>Rocker bottom feet</li><li>Overlapping of fingers</li></ul>

Question 220

What is Edward’s syndrome?

Answer 220

<ul><li>Trisomy 18</li></ul>

Question 221

What is Patau’s syndrome?

Answer 221

<ul><li>Trisomy 13</li></ul>

Question 222

What are the key features of Patau syndrome?

Answer 222

<ul><li>Microcephaly</li><li>Small eyes</li><li>Polydactyly</li><li>Scalp lesions</li><li>Born with cleft palate</li><li>Large testicles after puberty</li><li>Autism</li><li>Seizures</li><li>ADHD</li><li>Hypermobility</li></ul>

Question 223

What are the features of Fragile X?

Answer 223

<ul><li>Learnign difficulties</li><li>Macrocephaly</li><li>Long face</li><li>Large ears</li><li>Macro-orchidism</li><li><img></img><br></br></li></ul>

Question 224

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

Answer 224

<ul><li>Similar features, Treacher-Collins is autosomal dominant so will have family history</li></ul>

Question 225

What is meany by ‘muscular dystrophy’?

Answer 225

<ul><li>Umbrella term for genetic conditions that cause gradual weakening and wasting of muscles</li></ul>

Question 226

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

Answer 226

<ul><li>Gower's sing</li><li>Due to proximal muscle weakness: will use hands on legs to help them stand up</li></ul>

Question 227

What is the inheritance of Duchenne Muscular dystrophy?

Answer 227

<ul><li>X-Linked recessive</li></ul>

Question 228

What causes Duchenne Muscular Dystrophy?

Answer 228

<ul><li>X-Linked recessive disorder in the dystrophin gene</li><li>Dystrophin genes reqquired for normal muscular function</li></ul>

Question 229

What investigatinos are done to diagnose Ducehnne msuclar dystrophy?

Answer 229

<ul><li>Creatine kinase: raised</li><li>Genetic testing: now replaced muscle biopsy for a definitive diagnosis</li></ul>

Question 230

What is myotonic dystrophy?

Answer 230

<ul><li>Genetic disorder that usually presents in adulthood</li></ul>

Question 231

What is Angelman syndrome?

Answer 231

<ul><li>Genetic condition caused by loss of function of UBE3A gene, specifically the gene inherited by the mother</li><li>Can 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.&nbsp;</li></ul>

Question 232

What is Prader willi syndrome?

Answer 232

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

Question 233

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

Answer 233

<ul><li>Prader Willi if gene deleted from father</li><li>Angelman if gene deleted from mother</li></ul>

Question 234

What is Noonan syndrome?

Answer 234

<ul><li>''Male Turner's'</li><li>Autosomal dominant associated with a normal karyotype-&gt; defect in gene on chromosome 12</li></ul>

Question 235

What conditions are associated with Noonan syndrome?

Answer 235

<ul><li>Congenital heart disease: pulmonary valve stenosis, hypertropic cardiomyopathy, ASD</li><li>Cryptochordism</li><li>Learning disability</li><li>Lymphoedema</li><li>Bleeding disorders</li><li>Increased risk of leukaemia and neuroblastoma</li></ul>

Question 236

What conditions are associated with William’s syndrome?

Answer 236

<ul><li>Supravalvular aortic stenosis</li><li>ADHD</li><li>Hypertenison</li><li>Hypercalcaemia</li></ul>

Question 237

What is osteogenesis imperfecta?

Answer 237

<ul><li>Genetic disorder primarily affecting the body's pruduction of collagen, resulting in bone fragility and fractures</li></ul>

Question 238

What investigations might be done to diagnose osteogenesis imperfecta?

Answer 238

<ul><li>Genetic testing: COL1A1 and COL1A2 genes</li><li>Imaging: x-rays to ID fractures and assess bone density</li><li>Audiology evaluatyions</li><li>NORMAL calcium, phosphate, parathyroid and ALP</li><li>Often clinical diagnosis</li></ul>

Question 239

What is Ricket’s?

Answer 239

<ul><li>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</li></ul>

Question 240

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

Answer 240

<ul><li>Low vitamin D</li><li>Reduced serum calcium</li><li>Raised alklaine phosphatase</li><li>Raised PTH</li><li>X-ray: osteopneia-bones look more radiolucent)</li><li>Also look for other patholoyg: FBC, inflammatory markers, Kidney, liver, thyroid function tests, malabsorption screening and autoimmune screening</li></ul>

Question 241

What is osteomyelitis?

Answer 241

<ul><li>Infection of the bone that can be acute or chronic caused by bacterial or fungal pathogens</li></ul>

Question 242

What are the most common causative organisms of osteomyelitis?

Answer 242

S. aureus most commonly<br></br><ul><li>Also coagulase negative staphylococci</li></ul>

Question 243

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

Answer 243

<ul><li>SSalmonella species</li></ul>

Question 244

What investigations might be done in a patient with osteomyelitis?

Answer 244

<ul><li>Definitive: bone biopsy</li><li>MRI: gold standard imaging-bone marrow oedema&nbsp;</li><li>Raissed inflammatory markers, cultures etc</li></ul>

Question 245

Wha is septic arthritis?

Answer 245

<ul><li>Infection of the synvial fluid in the joint, typically caused by bacterial or viral pathogen</li></ul>

Question 246

What investigations are used to diagnose septic arthritis?

Answer 246

<ul><li>Joint aspiration for MSU: aspirate will be turbid and yellls</li><li>Bloods: raised ESR and CRP and WCC</li><li>Cultures: ID causative organisms</li><li>Imaging: x-ray</li></ul>

Question 247

What is the Kocher criteria for diagnosing septic arthritis?

Answer 247

<ul><li>Fever &gt;38.5 degrees</li><li>Non-weight bearing</li><li>Raised ESR</li><li>Raised WCC</li></ul>

Question 248

What is Perthes’ disease?

Answer 248

<ul><li>Degenerative condition caused by avascular necrosis of the femoral head in children, specifically the femoral epiphysis</li></ul>

Question 249

What is Slipped Upper Femoral Epiphysis?

Answer 249

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

Question 250

Name some risk factors for Slipped Upper Femoral Epiphysis

Answer 250

<ul><li>Sex: male in 80% of cases</li><li>Age: adolescents ae 8-15 years(12 yrs average in M, 11 year averag ein F)</li><li>Obesity</li><li>Endocrine disorders: hypothyroidism and hypogonadism</li><li>Ehtnicity: Afro-Caribbean and hispanic populations</li></ul>

Question 251

What is osgood schlatter disease?

Answer 251

<ul><li>Self limited condiitons characterised by inflammatin and stress induced injury of the tibial tuberosity at the insertion point of the patellar tendon</li></ul>

Question 252

What is developmental dysplasia of the hip?

Answer 252

<ul><li>Congenital abnormality of the hip joint in whcih the femoral head and the socket of the pelvis(acetabulum) don't articulate properly</li></ul>

Question 253

Wen is screening for developmental dysplasia of the hips done?

Answer 253

<ul><li>Newborn baby check</li><li>6 week baby check</li></ul>

Question 254

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

Answer 254

<ul><li>1st degree family history of hip problems in early life</li><li>Breech presentation &gt;=36 weeks gestation, irresepctive of presentaiton at birth or mode of delivery</li><li>Multiple pregnancy</li></ul>

Question 255

What is juvenile idiopathic arthritis?

Answer 255

Arthritis occurs in someone <16 and lasts >6 weeks<br></br><ul><li>Can be systemic onseet(Still’s)</li><li>Polyarthritis</li><li>Oligoarthritis</li><li>Enthesitis related</li><li>Juvenile psoriatic</li></ul>

Question 256

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

Answer 256

<ul><li>ANA and RF: typically negative</li><li>Raised inflammatory markers: CRP, ESR, platelets, ferritin</li></ul>

Question 257

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

Answer 257

<ul><li>Low ESR</li></ul>

Question 258

What is polyarticular JIA?

Answer 258

<ul><li>Idiopathic inflammatory arthritis in &gt;=5 joints</li></ul>

Question 259

What is oligoarticular JIA?

Answer 259

<ul><li>Pauciarticular JIA</li><li>Monoarthirits-usually larger joints, often knee or ankles</li></ul>

Question 260

What is enthesitis relateed JIA?

Answer 260

<ul><li>Paediatric version of seronegative spondyloarthropathies</li><li>Ankylosing spondylitis, psoriatic arthirtis, reactive arthritis, IBD related arthritis</li><li>Inflammatory arthritis and enthesitis</li></ul>

Question 261

What is enthesitis?

Answer 261

<ul><li>Inflammation of insertino pount when tendon inserts into bone</li><li>Can be caused by traumatic stress or AI inflammatory process</li></ul>

Question 262

What gene is associated bwith enthesitis relateed arthritis?

Answer 262

<ul><li>HLAB27</li></ul>

Question 263

Name some typical features of torticollis

Answer 263

<ul><li>Sudden onset of severe or unilateral pain</li><li>Restricted/painful neck movements</li><li>Diffuse tenderness on involved side with palpable spasms</li></ul>

Question 264

What is adolescent idiopathic scoliiosis?

Answer 264

<ul><li>Structural spinal deformity characterised by decompensation of the normal verterbral alignment during rapid skeletal growth in otherwise healthy children</li></ul>

Question 265

What is discoid meniscus?

Answer 265

<ul><li>Lateral meniscus shaped like a disk, variation of normal meniscus</li><li>Can be more prone to injury as is more likely to get stuck in the knee or tear</li></ul>

Question 266

What condition is associated with discoid meniscus?

Answer 266

<ul><li>Meniscal tear</li></ul>

Question 267

What are the 4 types of leukamia?

Answer 267

<ul><li>Acute myeloid</li><li>Acute lymphoblastic</li><li>Chronic myeloid</li><li>Chronic lymphocytic</li></ul>

Question 268

What causes acute lymphoid leukaemia?

Answer 268

<ul><li>Impaired cell differentiation resulting in large numbers of malignant precurose cells in the bone marrow</li></ul>

Question 269

What causes chronic leukaemia?

Answer 269

<ul><li>Excess proliferation of mature malignant cells but cell differentiation is unaffected</li></ul>

Question 270

What causes myeloid leukaemia?

Answer 270

<ul><li>Arises from myeloid precurose cell, such as the cells that produce neutrophilsSS(common myeloid progenitor)</li><li><img></img><br></br></li></ul>

Question 271

What causes lymphocitic anaemia?

Answer 271

<ul><li>Arises from a lymphoid precursor such as a B or T cell</li><li><img></img><br></br></li></ul>

Question 272

What condition is associated with ALL?

Answer 272

<ul><li>Down's sndrome</li></ul>

Question 273

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

Answer 273

<ul><li>AML</li></ul>

Question 274

What is AML commonly associated with?

Answer 274

<ul><li>Myelodysplastic syndrome</li></ul>

Question 275

What demographic is usually affected by AML?

Answer 275

<ul><li>Older adults</li></ul>

Question 276

What genetic change is associated with AML?

Answer 276

<ul><li>t(15,17)</li><li>translocation</li></ul>

Question 277

What can AML result from?

Answer 277

<ul><li>Myeloproliferative disorder like polycythaemia rubra vera or myelofibrosis</li></ul>

Question 278

What causes tumour lysis syndrome?

Answer 278

<ul><li>Results from chemicals released when cells are destroyed by chemotherapy</li></ul>

Question 279

What does uric acid result in?

Answer 279

<ul><li>High uric acid-&gt; AKI (crystals in interstitial space aand tubules of kidneys)</li><li>Hyperkalaemia-&gt; cardiac arrhythmias</li><li>High phosphate-&gt; hypocalcaemia</li><li>Release of cytokines can cause systemic inflammation</li></ul>

Question 280

What are the key things to remember about AML

Answer 280

<ul><li>Associated with Auer rods</li><li>Can arise from a myeloproliferative disorder</li></ul>

Question 281

What are the key things to remmeber about CML?

Answer 281

<ul><li>3 phases including long chronic phase</li><li>Associated with Philadelphia chromosome</li></ul>

Question 282

What age groups is most commonly affected by CML?

Answer 282

<ul><li>40-50yrs</li><li>60-70yrs??</li></ul>

Question 283

What are the 3 phases of CML?

Answer 283

<ul><li>Chronic</li><li>Accelerated</li><li>Blast</li></ul>

Question 284

What happens in the chronic phase of AML?

Answer 284

<ul><li>Often asymptomatic</li><li>Pateints diagnosed from incidental finding of raised WCC</li><li>Can last years before progressing</li></ul>

Question 285

What happens in the accelerated phase of CML?

Answer 285

<ul><li>Abnormal blast cells take up 10-20% of bone marrow and blood cells</li><li>More symptomatic-&gt; anaemia, throombocytopenia and immunodeficiency</li></ul>

Question 286

What happens in the blast phase of CML?

Answer 286

<ul><li>&gt;20% blast cells in the blood</li><li>Sever symtpoms include pancytopenia</li><li>Often fatal</li></ul>

Question 287

What is the philadelphia chromosome?

Answer 287

<ul><li>t(9:22)</li><li>&gt;95% of CML</li><li>Also called BCR-ABL</li></ul>

Question 288

What age gruop is most commonly affcetd by ALL?

Answer 288

<ul><li>4-5 yrs</li></ul>

Question 289

What causes ALL?

Answer 289

<ul><li>Affects on of lymphocyte precurosr cells causing acute proliferation of one type of lymphcyte,, most commonly B lymphocyte</li><li>Excessive accumulation of these cells replaces other types in bone marrow-&gt; pancytopenia</li></ul>

Question 290

What are the key things to remember about ALL

Answer 290

<ul><li>Most common leukaemia in children</li><li>Associated with Down's syndrome</li></ul>

Question 291

What are the key things to remember about CLL?

Answer 291

<ul><li>Associated with haemolytic anaemia</li><li>Richter's transformation</li><li>Smudge cells</li></ul>

Question 292

What age groups is most commonly affected by CLL?

Answer 292

<ul><li>&gt;60 years</li></ul>

Question 293

What is Richter’s transformation?

Answer 293

<ul><li>Occurs when leukamia cells enter lymph node and change into high grade, fast growin non-Hodgkiin's lymphoma</li></ul>

Question 294

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

Answer 294

<ul><li>MRI/CT</li><li>LP</li><li>Biopsy</li></ul>

Question 295

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

Answer 295

<ul><li>Metastatic brain cancer</li></ul>

Question 296

What is the most common primary brain tumour in children?

Answer 296

<ul><li>Pilocytic astrocytoma</li></ul>

Question 297

What is a medulloblastoma?

Answer 297

<ul><li>Aggressive paediatric brain tumour</li></ul>

Question 298

What is the median age of onset for a neuroblastoma?

Answer 298

<ul><li>Around 20 months</li></ul>

Question 299

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

Answer 299

<ul><li>raised urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels</li><li>calcification may be seen on abdominal x-ray</li><li>biopsy</li><br></br></ul>

Question 300

What is pyloric stenosis?

Answer 300

<div><ul><li>Pyloric sphincter(circular muscle at the base of the stomach controlling gastric emptying into small intestine) becomes hypertrophied-&gt; narrowing of gastric outlet and gastric outlet obstruction</li></ul></div>

Question 301

What age group is most commonly affected by pyloric stenosis?

Answer 301

<ul><li>2-8 weeks</li></ul>

Question 302

What are the complications of pyloric stenosis?

Answer 302

<ul><li>Hypochloremic hypokalemic metabolic alkalosis</li><li>Dehydration</li></ul>

Question 303

What investigations are used to diagnose pyloric stenosis?

Answer 303

<ul><li>Abdo USS: Visualise hypertrophic pyloric sphincter</li><li>Length: &gt;16-18 mm and thickness &gt;3-4 mm</li></ul>

Question 304

What is mesenteric adenitis?

Answer 304

<ul><li>Inflammatory condition that involves the lymph nodes in the abdmone and can mimic appendicitis</li></ul>

Question 305

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

Answer 305

<ul><li>FBC: no raised wcc or inflammatory markers</li><li>USS abdomen: enlarged mesenteric lymoh nodes and normal appendix(if visualised)</li></ul>

Question 306

What is <span>Intussusception</span>

Answer 306

<ul><li>Invagination(telescoping) of a segment of the proximal bowel into a distal bowel segment</li></ul>

Question 307

What is the most common site in which i<span>ntussusception happens?</span>

Answer 307

<ul><li>Ileum passing into caecum through ileocaecal valve</li></ul>

Question 308

What age group is most commonly affected by i<span>ntussusception</span>

Answer 308

<ul><li>Primarily infants: peaks 3 months-2 years</li></ul>

Question 309

Name some risk factors for i<span>ntussusception</span>

Answer 309

<ul><li>Viral infections: predisopse</li><li>Lymphoid hyperplasia: e/g/ lymphomas</li><li>Meckel's diverticulum: 'lead point' for i<span>ntussusception</span></li><li><span>Polyps</span></li><li><span>Cystic fibrosis</span></li><li><span>Hneoch Schonlein purpura</span></li></ul>

Question 310

What gender is more commonly affected by i<span>ntussusception?</span>

Answer 310

<ul><li>Boys affected twice as often as girls</li></ul>

Question 311

What is intestinal malrotation?

Answer 311

<ul><li>Congenital abnormality where the midgut undergoes abnormal rotation and fixation during embryogenesis making is susceptble to volvulus</li></ul>

Question 312

What conditions does intestinal malrotation occur in?

Answer 312

<ul><li>Exomphalos</li><li>Congenital diaphragmatic hernia</li><li>Intrinsic duodenal atresia</li></ul>

Question 313

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

Answer 313

<ul><li>GORD</li><li>Immaturity of the lower oesophageal sphincter allowing contents to pass freely into oesophaguse from stomach</li><li>'Normal' and can have overlap with normal physiological processes)</li></ul>

Question 314

What causes the progressing pain in patients with appendicitis?

Answer 314

<ul><li>Initial dull, vague discomfort: irritation of visceral afferent nerve fibres from T8-T10</li><li>Transition from visceral to somatic pain as inflammation affects parietal peritoneum covering the abdominal wall</li><li>Parietal peritoneum supplied by somatic afferent nerve fibres from T10-L1: moves to RIF</li></ul>

Question 315

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

Answer 315

<ul><li>VBG: lactate</li><li>Pregnancy test</li><li>Urine dip: leukocytes</li><li>FBC, CRP, LFTS, U&amp;</li><li>CXR: rulee out perforation</li><li>CT abdo pelvis/USS of RIF-usually only used if doubt about diagnosis</li></ul>

Question 316

What is biliary atresia?

Answer 316

<ul><li>Rare but seriosu conditions where bile ducts in newborn's liver undergo fibrosis and destruction-&gt; can be fatal</li></ul>

Question 317

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

Question 318

Name some signs of biliary atresia

Answer 318

<ul><li>Jaundice</li><li>hepato and splenomeglay</li><li>Abnormal gorwth</li><li>Cardiac murmus</li></ul>

Question 319

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

Answer 319

<ul><li>Abnormally high conjucated bilirubin, total may be normal</li><li>LFTs: high AFTS</li><li>Alpha 1 antitrypsin: other causes of neonatal cholestasis</li><li>Sweat chloride test: CF</li><li>USSS</li><li>Liver biopsy</li></ul>

Question 320

What are febrile convlusions?

Answer 320

<ul><li>Type of seizure that occus in association with a fever, without evidence of intracranial infection or defined cause</li><li>Typically short lived(15 minutes) and tonic-clonic</li></ul>

Question 321

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

Answer 321

<ul><li>Bloods to rule out infection</li><li>LP if CNS infeciton suspected</li><li>EEG if recurrent or neuro deficits</li></ul>

Question 322

What is the overall risk of further febrile convulsion?

Answer 322

<ul><li>1/3</li></ul>

Question 323

What are some risk factors for further febrile seizures?

Answer 323

<ul><li>Age &lt;18 months at onset</li><li>Fever: &lt;39 degrees</li><li>Short duration of fever before seizure</li><li>Family history of febrile convulsions</li></ul>

Question 324

What is the most common cause of constipation in children?

Answer 324

<ul><li>Idiopathic/dietary-low fibre, dehydration, psychosocial issues</li></ul>

Question 325

Name some secondary causes of constipation in children

Answer 325

<ul><li>Hirschprung's</li><li>CF</li><li>Sexual abuse</li><li>CMPA</li><li>Hypothyroidism</li><li>Spinal cord elsions</li><li>Intestinal obstruction</li><li>Anal stenosis</li></ul>

Question 326

What is encopresis?

Answer 326

<ul><li>Faecal incontinence</li></ul>

Question 327

What is cerebral palsy?

Answer 327

<ul><li>Permanent, non-progressive movement disorders that occur due to damage to a child's CNS</li></ul>

Question 328

What are the subtypes of cerebral palsy

Answer 328

<ul><li>Spastic-mc</li><li>Dyskinetic</li><li>Ataxic</li><li>Mixed</li></ul>

Question 329

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

Answer 329

<ul><li>Basal ganglia and substantia nigra</li></ul>

Question 330

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

Answer 330

<ul><li>Cerebellar pathways</li></ul>

Question 331

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

Answer 331

<ul><li>MRI-visualise extent and nature of brain lesions</li><li>Genetics to rule out differentials/underlying genetic disorder</li></ul>

Question 332

What is haemolytic disease of the newborn?

Answer 332

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

Question 333

What investigations might be used in haemolytic disease of the newborn

Answer 333

<ul><li>Direct antiglobulin test(DAT)</li><li>USS to check for fetal oedema</li><li>LFT's to check for complications</li></ul>

Question 334

What is a cephalohaemata?

Answer 334

<ul><li>Swelling on the newborns head-&gt; typically develops several hours after delivery</li></ul>

Question 335

What causes a cephalohaematoma?

Answer 335

<ul><li>Bleeding between the periosteum and skull</li></ul>

Question 336

What is caput succedaneum?

Answer 336

<ul><li>Oedema to the scalp at the presenting part of the head, typically the vertex</li></ul>

Question 337

What causes caput seccedaneum?

Answer 337

<ul><li>Mechanical trauma of initial portion of the scalp pushing through the cervix</li><li>Secondary due to use of ventouse delivery</li></ul>

Question 338

What are postpartum/puerperal infections?

Answer 338

<ul><li>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</li></ul>

Question 339

What is the APGAR scor? 

Answer 339

<ul><li>Used to assess the health of a newborn abby</li></ul>

Question 340

What are the ccomponents of the APGAR score?

Answer 340

<ol><li>Appearance</li><li>Pulse</li><li>Grimace</li><li>Activity</li><li>Respiration</li></ol>

Question 341

What is acute respiratory distress syndrome?

Answer 341

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

Question 342

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

Answer 342

<ul><li>Berlin criteria-all of:</li><li>Acute onset(&lt;1 week)</li><li>CXR-&gt; bilateral opacities</li><li>Decreased ratio of arterial to inspired oxygen concentrations(Pa02/FiO2)&lt;=300</li></ul>

Question 343

What is neonatal respiratory distress syndrome?

Answer 343

<ul><li>AKA hyaline membrane disease</li><li>Life-threatening condition primarily affectinng premature infants characterised by deficient production of surfactant</li></ul>

Question 344

What does surfactant do?

Answer 344

<div><ul><li>Lowers the surface tension within alveoli&nbsp;</li><li>Deficiency: increased surface tenssion and subsequent alveoli colllapse-&gt; respiratory distress</li></ul></div>

Question 345

What is surfactant?

Answer 345

<ul><li>Phospholipid containing fluid produced by type 2 pneumocytes in the lungs</li></ul>

Question 346

Name some risk factors for neonatal respiratory distress syndrome

Answer 346

<ul><li>Premature babies</li><li>Maternal diabetes</li><li>Low birth weight</li><li>Multiple pregnancies</li><li>Male</li><li>Delivery via C section without maternal labour</li><li>Family hisitory of NRDS</li></ul>

Question 347

What is neonatal sepsis?

Answer 347

<ul><li>Severe systemic infection occuring in infants &lt;90 days old&nbsp;</li><li>Early onset: &lt;72 hours post birth</li><li>Late onset: &gt;72 hours</li><li><br></br></li></ul>

Question 348

What causes early onset neonatal sepsis?

Answer 348

<ul><li>Often ascending infections from the maternal genital tract or transplacental infections</li></ul>

Question 349

What causes late onset neonatal sepsis

Answer 349

<ul><li>Usually organisms in hospital environemnt orr infant's intestinal flora</li></ul>

Question 350

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

Answer 350

<ul><li>Multiple pregnancies witth sibling with suspected/confirmed infections</li><li>Evidence of GBS in previous baby or current pregnancy</li><li>Premature birth</li><li>Rupture of membranes &gt;18 hours for pre-term babies or &gt;24 hours for term babies</li><li>Maternal temp &gt;38</li><li>Suspected/confirmed maternal sepsis</li><li>Chorioamnionitis</li></ul>

Question 351

What are the most common causes of early neonatal sepsis

Answer 351

<ul><li>Group B strep</li><li>E.</li></ul>

Question 352

What is meconium aspiration syndrome?

Answer 352

<ul><li>Occurs when a newborn aspirates meconium into the lungs prior to birth-&gt; neonatal morbidity</li></ul>

Question 353

Name some risk factors for meconium aspiration syndrome

Answer 353

<ul><li>Post dates pregnancy: &gt;40 weeks</li><li>Prolonged/difficult labour</li><li>Choriomanionitis</li><li>Pre-eclampsia</li><li>Hypertension in pregnancy</li><li>Oligohydramnios</li><li>Maternal infection</li><li>Placental insufficiency</li><li>Intrauterine growth infection</li></ul>

Question 354

What is the general figure used to suggest neonatal hypoglycaemia?

Answer 354

<ul><li>&lt;2.6mmol/L</li></ul>

Question 355

What is gastroschisis?

Answer 355

<ul><li>Congenital defect in the anterior abdominal wall just lateral to the umbilical cord</li><li><img></img><br></br></li><li><img></img><br></br></li></ul>

Question 356

What is the main difference between gastroschisis and omphalocele?

Answer 356

<ul><li>Gastroschisis: abdominal contents slip outside <b>without a sac</b></li><li>Omphalocele: abdominal contents protrude into peritoneal sac</li></ul>

Question 357

What is an omphalocele?

Answer 357

<ul><li>AKA exomphalos</li><li>Abdminal contents prortude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum</li></ul>

<div><img></img><br></br></div>

Question 358

What is intestinal atresia?

Answer 358

<ul><li>Congenital malformation resulting in closed/absent part of small/large intestine</li></ul>

Question 359

What condition is duodenal atresia strongly associated with?

Answer 359

<ul><li>Down's syndrome</li></ul>

Question 360

What is oesophageal atresia?

Answer 360

<ul><li>Congenital GI abnormality where the oesophagus doesn't connect with lower oesophagus and stomach</li><li>Often coincides with traceho-oesophageal fistula</li></ul>

<div><img></img><br></br></div>

Question 361

What is a tracheo-oesophageal fistula?

Answer 361

<ul><li>Connection between the oesophagus and trachea</li></ul>

Question 362

What is CHARGE syndrome?

Answer 362

<ul><li>Coloboma</li><li>Heart defects</li><li>Atresia choenae</li><li>Retarded development</li><li>Genital hypolpasia</li><li>Ear abnormalities</li></ul>

Question 363

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

Answer 363

Antenatal:<br></br><ul><li>Polyhydramnios</li></ul><div>Postnatal:</div><div><ul><li>Repsiratory distress</li><li>Distended abdomen</li><li>Choking/swallowing problems, difficulty feeding, excess saliva, ‘TOF’ cough</li><li>Difficulty in passing an NG tube</li></ul></div>

Question 364

What is necrotising enterocilitis?

Answer 364

<ul><li>Severe GI disease that primarily affects premature infants. Necrosis of intestine due to ischaemia and infection-&gt; perforatin of the bowel</li></ul>

Question 365

Name somr risk factors for necrotising enterocilitis

Answer 365

<ul><li><b>Premature</b></li><li>Low birth weight</li><li>Non-breast milk feeds</li><li>Sepsis</li><li>Acute hypoxia</li><li>Poor intestinal perfusion</li><li>Congenital heart disease</li><li>Intrauterine growth restriction</li><li>Maternal drug use and HIV status</li></ul>

Question 366

What is a congenital diaphragmatic hernia?

Answer 366

<ul><li>Incomplete formation of the diaphragm that allows herniation of abdominal viscera into the thorax-&gt; pulmonary hypoplasia and hypertension</li></ul>

Question 367

What is the most common type of congenital diaphragmatic hernia

Answer 367

<ul><li>Left-sided posterolateral Bochdalek hernia</li></ul>

Question 368

What is the prognosis for congenital diaphragmatic hernia

Answer 368

<ul><li>Only around 50% survive</li></ul>

Question 369

What is jaundice?

Answer 369

<ul><li>Yellowing of skin and eyes due to an accumulation of bilirubin, a by product of RBC breakdown</li></ul>

Question 370

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

Answer 370

<ul><li>Rhesus haemolytic disease</li><li>ABO incompatibility</li><li>Hereditary spherocytosis</li><li>G6PD deficiency</li><li>Congenital infections-TORCH screen</li><li>Sepsis</li></ul>

Question 371

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

Answer 371

<ul><li>Physiological</li><li>Breast milk jaundice</li><li>Dehydration</li><li>Infeciton including sepsis</li><li>Haemolysis</li><li>Bruising</li><li>Polycthaemia</li></ul>

Question 372

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

Answer 372

<ul><li>Physiological jaundice</li><li>Biliary atresia</li><li>Hypothyroidism</li><li>Neonatal hepatitis</li><li>UTI</li><li>Prematurity</li><li>Congenital infections-CMV, toxoplasmsosi</li></ul>

Question 373

What causes physiological jaundice?

Answer 373

<ul><li>Relative polycythaemia</li><li>Shorter RBC span compared to adults</li><li>Less effective hepatic bilirubin metyabolism in the first few days of life</li></ul>

Question 374

What is a jaundice screen?

Answer 374

<ul><li>Conjugated and unconjugated bilirubin-most important</li><li>Coombs' test(direct antiglobulin)</li><li>TFTs, FBC, blood film</li><li>Urine for MC+S and reducing sugars</li><li>U&amp;Es and LFTs</li></ul>

Question 375

What is kernicterus?

Answer 375

<ul><li>Serious complication of untreated jaundice-&gt; excess bilirubin damages brain, especially basal ganglia</li></ul>

Question 376

Name some symptoms of kernicterus

Answer 376

<ul><li>Jaundice</li><li>Irritability</li><li>Vomiting</li><li>Hypotonia then hypertonia</li><li>Generally less responsive, floppy baby not feeding</li></ul>

Question 377

What is a TORCH infection?

Answer 377

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

Question 378

What does TORCH stand for?

Answer 378

<ul><li>Toxoplasma gondii</li><li>other: treponema pallidum, VZV, parvovirus B19, HIV</li><li>Rubella</li><li>CMV</li><li>HSV</li></ul>

Question 379

What effect does treponema pallidum have on infants?

Answer 379

<ul><li>Syphilis-can pass through placenta and spread through birth canal</li><li>Fetal death</li><li>Congenital syphilis: craniofacial malformations, rash, deafness</li><li><br></br></li></ul>

Question 380

What is listeriosis?

Answer 380

<ul><li>Infeciton caused by bacterium listeria monocytogenes, foodborne</li></ul>

Question 381

What groups of people is listeriosis dangerous for?

Answer 381

<ul><li>Immunocompromised</li><li>Pregnant women</li></ul>

Question 382

What are the commonest variants of cleft lip/palate?

Answer 382

<ul><li>Isolated cleft lip</li><li>Isolated cleft palate</li><li>Combined cleft lip and palate-mc</li></ul>

<div><br></br></div>

<div><img></img><br></br></div>

Question 383

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

Answer 383

<ul><li>Maternal antiepileptic use</li></ul>

Question 384

Name some symptoms of disseminated HSV in a neonate

Answer 384

<ul><li>Seizures</li><li>Encephalitis</li><li>Hepatitis</li><li>Sepsis</li></ul>

Question 385

What is bronchopulmonary dysplasia?

Answer 385

<ul><li>AKA chronic lung disease of prematurity</li><li>Usually affects premature babies-&gt; respiratory distress</li></ul>

Question 386

What do babies with bronchopulmonary dysplasia typically require at birth

Answer 386

<ul><li>Intubation and ventilation</li></ul>

Question 387

Name some triggers of seizures in children with established epilepsy

Answer 387

<ul><li>Sleep deprivation</li><li>Playing video games/watching TV</li></ul>

Question 388

What are the different classifications of epilepsy in children?

Answer 388

<ul><li>West syndrome/infantile spasms</li><li>Child absence epilepsy</li><li>Lennox-Gastaut syndrome</li><li>Benign rolandic epilepsy/BECTS</li><li>Juvenile myoclonic epilepsy(Janz syndrome)</li><li>Panayiotopoulos syndrome</li><li>Dravet's syndrome</li></ul>

Question 389

What is Dravet’s syndrome?

Answer 389

<ul><li>Severe myoclonic&nbsp; epilepsy typically onsets in infancy in an otherwise healthy infant</li></ul>

Question 390

What is the prognosis like for benign rolandic epilepsy?

Answer 390

<ul><li>Excellent prognosis</li><li>Usually resolved by adolescence</li></ul>

Question 391

What is global developmental delay?

Answer 391

<ul><li>Dealy of at least 2 milestones in a child under the age of 5yrs</li></ul>

Question 392

Name some soeech and hearing developmental milestones

Answer 392

<ul><li>3 mths: tree-turns towards sound</li><li>6 tmsh: double syllables 'adah'</li><li>9 mths: mama dada</li><li>12-15: 2-6 words, commands</li><li>2.5: 200 words</li><li>3: short sentences, 'what and who'</li><li>4: 'why, when how'</li></ul>

Question 393

What is a retinoblastoma?

Answer 393

<ul><li>Rare, malignant tumour of the retina that predmoninanly affects shildren under 5yrs</li></ul>

Question 394

What cancers are linked to mutaitons in the RB1 gene?

Answer 394

<ul><li>Retinoblastoma</li><li>Osteosarcoma</li><li>Soft tissue sarcomas</li></ul>

Question 395

What is the NICE referral criteria for retinoblastoma?

Answer 395

<ul><li>Urgent referral(&lt;2ww) in children with absent red reflex</li></ul>

Question 396

What is hepatoblastoma?

Answer 396

<ul><li>Malignant tumour of the liver which usually occurs in young children(1-2yrs)</li></ul>

Question 397

What is osteosarcoma?

Answer 397

<ul><li>Malignant neoplasm derived from primitive transformed cells of mesenchymal origin that exhibit osteoblastic differentiation and produce malignant osteoid</li></ul>

Question 398

Name some risk factors for osteosarcoma

Answer 398

<ul><li>Hx of radiaiton or chemo</li><li>Genetics: Li-Fraumeni syndrome, retinoblastoma</li><li>Other bone conditions; chronic osteomyelitis</li></ul>

Question 399

What is Ewing’s sarcoma?

Answer 399

<ul><li>Malignant, small round-cell tumour that primarily involves the bone but can arise n soft tissues</li></ul>

Question 400

What gene is associated with Ewing’s sarcoma

Answer 400

<ul><li>EWS-GLI1 fusion gene</li></ul>

Question 401

What is Hodgkin’s lymphoma?

Answer 401

<ul><li>Malignant proliferation of lymphocytes which accumulate in lymph nodes or other organs</li><li>Characterised byb presence of Redd-Steinberg cellss</li></ul>

Question 402

Name some risk factors for Hodgkin’s lymphoma

Answer 402

<ul><li>EBV</li><li>HIV</li><li>Immunosuppression</li><li>Smoking</li></ul>

Question 403

What is the role of the von Willebrand factor?

Answer 403

<div><ul><li>Normally promotes platelet adhesion to damaged endothelium</li><li>Stabilises clotting factor 8</li></ul></div>

Question 404

What are the types of von Willebrand’s disease?

Answer 404

<ul><li>Type 1: partial reduction in vWF-80%</li><li>Type 2: abnormal form of vWF</li><li>Type 3: total lack of vWF(autosomal recessive)</li></ul>

Question 405

What conditions are screened for in the neonatal blood spot?

Answer 405

<ul><li>Congenital hypoothyroidism</li><li>Sickle cell</li><li>CF</li><li>Phenylketonuria</li><li>MCADD</li><li>Maple syrup urine isease MSUD</li><li>Isovaleric acidaemia</li><li>Glutaric aciduria type 1</li><li>Homocystinuria&nbsp;</li></ul>

Question 406

What investigations might be used in a child with anaemia?

Answer 406

<ul><li>FBC: MCV, Hb, RBC, MCH</li><li>WCC+ platelets-&gt; signs of bone marrow failure</li><li>Reticulocyte count-&gt;asssess boen marrow response</li><li>Iron studies: ferritin low-IDA</li><li>Blood film</li><li>Coombs-autoimmune haemolytic anaemia</li><li>CITB12 and folate</li><li>Genetics</li></ul>

Question 407

Name some signs and symptoms of anaemia in children

Answer 407

<ul><li>Fatigue</li><li>Pallor</li><li>Tachycardia</li><li>SOB</li><li>IDA: pica(crave non-food substances like soil)</li><li>Systolic murmur and gallop rhythm</li><li>Splenomegaly and jaundice if haemolytic aanemia</li></ul>

Question 408

What is thalassaemia?

Answer 408

<ul><li>Group of inherited disorders characterised by abnormal Hb production</li><li>Severity of syndrome proportional to number of absent/abnormal genes</li></ul>

Question 409

What are the 2 types of thalassaemia?

Answer 409

<ul><li>Alpha thalassaemia: defect in 4 genes for alpha-globin</li><li>Beta thalassaemia: defect in 2 genes for beta-globin</li></ul>

Question 410

What is the inheritance of beta thalassaemia?

Answer 410

<ul><li>Autosomal recessive</li></ul>

Question 411

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

Answer 411

<ul><li>Risk of iron overload toxicity</li><li>Iron builds up in heart, joints, liver and endocrinee glands-&gt; death from cardiac failure</li></ul>

Question 412

What is sickle cell disease?

Answer 412

<ul><li>Autosomal recessive condition thatresults in synthesis of an abnormal haemoglobin chain: HbS</li></ul>

Question 413

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

Answer 413

<ul><li>Bloods: FBC, U%Es, LFTs, culture</li><li>CXR: infecitons and acute chest syndrome</li><li>CT/MRI if suspected vaso-occlusive crisis or ischaemic stroke</li></ul>

Question 414

What is fanconi anaemia?

Answer 414

<ul><li>Rare autosomal recessive condition that causes bone marrow failure, macrocytic normochromic anaemia and pancytopenia</li></ul>

Question 415

What is haemophilia?

Answer 415

<ul><li>X linked recessive inherited bleeding disorders</li></ul>

Question 416

What is the difference between haemophilia A and B?

Answer 416

<ul><li>A: deficiency in clotting factor 8</li><li>B: deficiency in clotting factor 9</li></ul>

Question 417

What is immune thrombocytopenic purpura?(ITP)

Answer 417

<ul><li>Autoimmune condition characterised by a reduction in circulating platelets.&nbsp;</li></ul>

Question 418

What is testicular torsion?

Answer 418

<ul><li>Urological emergency characterised by the twisting of testicle around the spermatic cord due to inadequate attachement of tissues within the scrotum-&gt; obstruced blood flow to affected testicle-&gt; testicular necrosis</li></ul>

Question 419

Name some risk factors for testicular torsion

Answer 419

<ul><li>Bell-Clapper deformity</li><li>Undesended testicle</li><li>Trauma</li><li>Prior intermittent torsion</li><li>Testicular tumour</li></ul>

Question 420

What is the different between primary and secondary sexual characteristics?

Answer 420

<ul><li>Primary: inborn characteristics present at birth</li><li>Secondary: Develop during puberty</li></ul>

Question 421

What is precocious puberty?

Answer 421

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

Question 422

What is adrenarche?

Answer 422

<ul><li>First stage of pubic hair development</li></ul>

Question 423

What causes bilateral testicular enlargement in males with precocious puberty?

Answer 423

<ul><li>Gonadotrophin release from intracranial lesion</li></ul>

Question 424

What causes unilateral testicular enlargement in males with precocious puberty?

Answer 424

<ul><li>Gonadal tumour</li></ul>

Question 425

What causes small testes in males with precocious puberty?

Answer 425

<ul><li>Adrenal cause(tumour or adrenal hyperplasia)</li></ul>

Question 426

What is Kallmann’s syndrome?

Answer 426

<ul><li>Cause of delayed puberty secondary to hypogonadotrophic hypogonadism</li></ul>

Question 427

What is congenital adrenal hyperplasia?

Answer 427

<ul><li>Group of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects</li></ul>

Question 428

Name some risk factors for obesity in children

Answer 428

<ul><li>Higher levels of deprivation</li><li>Parental obesity</li><li>Low levels of exercise and high caloric diet</li><li>Female</li><li>Asian children</li><li>Taller children</li></ul>

Question 429

What is congenital hypothyroidism?

Answer 429

<ul><li>Paediatric endocrine disorder characterised by insufficient production of thyroid hormones at birth-&gt; can cause irreversible cognitive impairment</li></ul>

Question 430

What is pica?

Answer 430

<ul><li>Craving to eat non-food items &gt;2yrs</li></ul>

Question 431

What is eczema?

Answer 431

<ul><li>Chronic inflammatory disorder of the skin characterised by dermatitis with resultant spongiotic change in the epidermis&nbsp;</li></ul>

Question 432

What is eczema herpeticum?

Answer 432

<ul><li>Dermatological emergency-&gt; disseminated HSV in a patient with eczema&nbsp;</li><li>Occurs when a patient is first infected with HSV</li></ul>

Question 433

What is Stevens-Johnson syndrome?

Answer 433

<ul><li>Severe systemic reaction affecting the skin and mucosa-almost always caused by a drug reactiob</li><li>Immune complex mediatede hypersensitivity disorder</li></ul>

Question 434

What is allergic rhinitis?

Answer 434

<ul><li>Inflammatory condition affecting the nasal mucosa-&gt; becomes sensitized to allergens</li></ul>

Question 435

What is angio-oedema?

Answer 435

<ul><li>Deeper form of urticaria with swelling in the dermis and submucosal or SC tissue</li></ul>

Question 436

What is chronic urticaria?

Answer 436

<ul><li>Lasts for &gt;6 weeks</li></ul>

Question 437

Name some risk factors/triggers for urticaria

Answer 437

<ul><li>Allergens(food, medications, insect stings)</li><li>Physical stimuli(pressure, cold, heeat)</li><li>Infections</li><li>AI processes</li><li>Stress and emotional factors</li><li>Genetics</li></ul>

Question 438

What are birth marks?

Answer 438

<ul><li>Coloured marks ont he skin that are present at birth or soon afterwards</li></ul>

Question 439

What is anaphylaxis?

Answer 439

<ul><li>Acute and severe type 1 hypersensitivity reaction -severe, life-threatening&nbsp;</li></ul>

Question 440

Name some triggers for anaphylaxis

Answer 440

<ul><li>Animals: insect stings</li><li>Foods: nuts(mc), shellfish, fish, eggs, milk</li><li>Medications: abx, IV contrast media, NSAIDs</li></ul>

Question 441

What criteria is used to diagnose rheumatic fever?

Answer 441

<ul><li>Jones criteria</li><li>Evidence of recent strep infection+ 2 major criteria OR 1 major with 2 minor</li></ul>

Question 442

What are the major criteria for rheumatic fever

Answer 442

<ul><li>Erythema marginatum</li><li>Sydenham's chorea</li><li>Polyarthritis</li><li>Carditis and valvulitis</li><li>SC nodules</li></ul>

Question 443

What investigations might be done for paediatric heart failure

Answer 443

<ul><li>Oxygen sats(pre-ductal and post-ductal-before/after reaching ductus arteriosus of aorta)</li><li>Bloods: FBC, U&amp;ES, LFTS, CRP, TFT, bone profile, BNP</li><li>CXR and echo</li><li>ECG</li><li>Exercise stress test if old enough</li></ul>

Question 444

What is infective endocarditis?

Answer 444

<ul><li>Infection of inner surface of heart(endocardium), usually the valves</li></ul>

Question 445

Name some risk factors for infective endocarditis

Answer 445

<ul><li>Previous episode of endocarditis</li><li>Age &gt;60yrs</li><li>Male</li><li>IVDU</li><li>Poor dental care</li><li>Prosthetic valve</li><li>Congenital heart disease</li><li>Valve disease</li><li>Intravascular devices</li></ul>

Question 446

What is the most common cause of infective endocarditis?

Answer 446

<ul><li>S.aureus</li><li>Especially in IVDU</li></ul>

Question 447

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

Answer 447

<ul><li>Strep viridans</li></ul>

Question 448

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

Answer 448

<ul><li>Coagulase negative staphylococci: Staph epidermis</li></ul>

Question 449

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

Answer 449

<ul><li>Strep bovis</li><li>Consider colonoscopy and biopsy in these patients&nbsp;</li></ul>

Question 450

What are the culture negative causes of infective endocarditis

Answer 450

HACEK organisms<br></br><ul><li>Haemophilus</li><li>Actinobacillus</li><li>Cardiobacterium</li><li>Eikenella</li><li>Kingella</li></ul>

Question 451

Name some signs of infective endocarditis

Answer 451

Systemic:<br></br><ul><li>Febrile</li><li>Cachectic</li><li>Clubbing</li><li>Splenomegaly</li></ul><div>Cardiac:</div><div><ul><li>Murmur: fever + new murmur is IE until proben otherwise</li><li>Bradycardia: aortic root abscess tracks down to AVN causing heart block</li></ul><div>Vascular phenomena:</div></div><div><ul><li>Septic emboli: abdo pain due ot splenic infarct/abscess, stroke, gangrene</li><li>Janeway lesions</li></ul><div>Immunological:</div></div><div><ul><li>Splinter haemorrhages</li><li>Osler’s nodes-painful pulp infarcs on ends of fingers</li><li>Roth spots-retinal haemorrhages</li><li>Glomerulonephritos</li></ul></div>

Question 452

What investigations might be used to assess for infective endocarditis

Answer 452

<ul><li>ECG-prolonged&nbsp; PR interval</li><li>Urine dip-&gt; haematuria-glomerulonephritis</li><li>Bloods-raised inflammatory markers, normocytic anaemia</li><li>Cultures: at least 3 at different times and sites</li><li>Echo: transthoracic echo</li><li>CT CAP: evidence of septic emboli</li></ul>

Question 453

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

Answer 453

<ul><li>Flucloxacillin</li><li>Vancomycin and rifampicin</li></ul>

Question 454

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

Answer 454

<ul><li>Benxylpenicillin</li><li>Vancomycin and gentamicin</li></ul>

Question 455

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

Answer 455

<ul><li>Ceftriaxone</li></ul>

Question 456

What is congenital heart block

Answer 456

<ul><li>Type of cardiac arrhythmia in which there is complete dissociation between atrial and ventricular contractioins</li></ul>

Question 457

Name somee differentials for congenital heart block

Answer 457

<ul><li>Bundle branch block</li><li>Vasovagal syncope</li><li>Seizure disorders</li><li>Orthostatic hypotension</li></ul>

Question 458

What is IBS?

Answer 458

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

Question 459

What investigations might be done in a patient with suspected IBS

Answer 459

<ul><li>FBC, ESR, CRP</li><li>Coeliac screen</li><li>Faecal calprotectin</li></ul>

Question 460

What is gastroenteritis?

Answer 460

<ul><li>Inflammation of GI tract predominanly involving stomahc and small intestine characterised by diarrhoea and vomiting</li></ul>

Question 461

Name some viral causes of gastroenteritis

Answer 461

<ul><li>Rotavirus-mc in infants</li><li>Norovirus-mc in all infants</li><li>Adenovirus</li></ul>

Question 462

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

Answer 462

<ul><li>Crohn's: non-bloody diarrhoea, mouth to anus, inflammation of all layers, Goblet cfells, granulomas, bowel obstruction, fistulae</li><li>UC: blood diarrhoes, ileocaecal valve to rectum, continuous disease, no inflammation beyond submucose, crypt abscesses</li></ul>

Question 463

What is Crohn’s disease?

Answer 463

<ul><li>Chronic relapsic remitting inflammatory bowel disease-&gt; transmural granulomatous inflammation which can affect any part of the GI tract</li></ul>

Question 464

What criteria is used to assess the severity of Ulcerative colitis

Answer 464

<ul><li>Truelove and Witt's criteria</li></ul>

Question 465

Name some surgical options for Ulcerative colitis patients

Answer 465

<ul><li>Panproctocolectomy with permanent end ileostomy</li><li>Colectomy with temporary end ileostomy(3 mths later can be reversed)</li></ul>

Question 466

Name some varibale term complications for Ulcerative colitis

Answer 466

<ul><li>Primary sclerosing cholangitis: monitor LFTs yearly</li><li>Inflammatory pseudopolyps</li><li>Increased risk of VTE</li></ul>

Question 467

What is coeliac disease?

Answer 467

<ul><li>T cell mediated inflammatory AI disease disease that affects the small bowe</li></ul>

Question 468

Name some signs of coeliac disease in children

Answer 468

<ul><li>Pallor-&gt; anaemia</li><li>Short stature</li><li>Wasted buttocks</li><li>Vitamin deficiency signs like bruising</li><li>Dermatitis herpetiformis</li></ul>

Question 469

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

Answer 469

<ul><li>Villous atrophy</li><li>Crypt hyperplasia</li><li>Increased intraepithelial T-lymphcoytes</li></ul>

Question 470

Name the causes of malnutrition due to wasting

Answer 470

<ul><li>Wt loss due to poor oral intake/infectious disease</li><li>Organic causes: coeliac, IBD or T1DM</li></ul>

Question 471

<div><div><div><div><div><div><div><div>Name the causes of malnutrition due to stunting</div></div></div></div></div></div></div></div>

Answer 471

<ul><li>Poor socioeconomic conditioner</li><li>Poor maternal health</li><li>Frequent infections</li><li>Inappropriate feeding</li></ul>

Question 472

Name the causes of malnutrition due to nutrition deficiencies

Answer 472

<ul><li>Poor diet</li><li>Parasitic infections</li><li>Organic: coeliac and IBD</li></ul>

Question 473

Name the causes of malnutrition due to overnutrition

Answer 473

<ul><li>Excess energy consumption relative to energy expenditure</li></ul>

Question 474

What are the 2 forms of protein-energy malnutrition?

Answer 474

<ul><li>Kwashiorkor</li><li>Marasmus</li></ul>

Question 475

What is kwashiorkor?

Answer 475

<ul><li>Oedema and hepatomegaly due to low protein intake with adequate oral intake&nbsp;</li></ul>

<div><img></img><br></br></div>

Question 476

What is marasmus?

Answer 476

<ul><li>Significant wasting due to low energy and protein intake</li></ul>

<div><img></img><br></br></div>

Question 477

What is failure to thrive?

Answer 477

<ul><li>Insufficient weight gian or inappropriate growthin infants and children</li><li>Manifestation of underlying medical and social issues</li></ul>

Question 478

What is Meckel’s diverticulum?

Answer 478

<ul><li>Congenital diverticulum of the small intestine</li></ul>

<div><img></img><br></br></div>

Question 479

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

Answer 479

<ul><li>2:1 M:F ratio</li><li>Typically 2 inches long</li><li>2 feet proximal to caecum</li><li>2% of population</li></ul>

Question 480

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

Answer 480

<ul><li>Meckel's diverticulum<br></br></li></ul>

Question 481

What is infantile colic?

Answer 481

<ul><li>Very common and benign set of symptoms of unknown cause&nbsp;</li></ul>

Question 482

What age is usually aggected by infantile colic?

Answer 482

<ul><li>&lt;3 months old</li></ul>

Question 483

What is a choledochal cyst?

Answer 483

<ul><li>Swelling/dilatation of the bile ducts</li><li>Usually common bile duct and hepatic ducts, rarely intrahepatic ducts</li></ul>

Question 484

What is neonatal hepatitis?

Answer 484

<ul><li>Inflammation of live in newborns(1-2 mths post birth)</li></ul>

Question 485

What is a hernia?

Answer 485

<ul><li>Protrusion of an internal organ through its containing wall(usually abdominal wall)</li></ul>

Question 486

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

Answer 486

<ul><li>Reducible hernia</li><li>Strangulated hernia</li><li>Incarcerated hernia</li></ul>

Question 487

Name some risk factors for hernias in children

Answer 487

<ul><li>Low birth weight and prematurity</li><li>Family history</li><li>Being male-especially inguinal hernias</li><li>Connective tissue disorders</li></ul>