Selected Notes paeds 3 Flashcards
What is androgen insensitivity syndrome?
X linked recessive condition due to end organ resistance to testosterone causing genotypically male children(46XY) to have a female phenotype
What causes androgen insensitivity syndrome?
Mutation in the <b><i>androgen receptor gene</i></b><span> on the </span><b><i>X chromosome<font><span>-> extra androgens converted into oestrogen-> female secondary characteristics</span></font></i></b>
What is partial androgen insensitivity syndrome?
Cells have a partial response to androgens<br></br>
What are patient with androgen insensitivity syndrome at increased risk of and why?
Testicular cancer due to undescended testes
What causes Fragile X syndrome?
<ul><li>Genetics</li><li>Mutation in FMR1 gene located on the X chromosome</li></ul>
What is Kawasaki disease?
System, medium sized vasculitis that predominantly affects children
What is a key feature of kawasaki disease?
<ul><li>Persisten high grade fever (>39 degrees) for more than 5 days</li></ul>
What are the typical skin findings you might see in a patient with Kawasaki disease?
<ul><li>Widespread ethythematous maculopapular rash and desquamation (skin peeling) on palms and soles</li></ul>
What investigations might be done to diagnose a child with suspected Kawasaki disease?
<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>
What is the main complication of Kawasaki’s disease?
<ul><li>Coronary artery aneurysm-monitor with echos</li></ul>
What is measles?
<ul><li>Highly contagious disease caused by the measles morbillvirus</li></ul>
What are Koplik spots?
<ul><li>Small grey discolourations of the muscoal membranes in the mouth, characteristic of measles</li><li><br></br></li></ul>
What investigations should be done for suspected measles?
<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>
What is chicken pox and what is it caused by?
<span>acute infectious disease caused by the varicella-zoster virus (VZV), a member of the human herpes virus family. <br></br></span>HHV3
What is the incubation period of chicken pox?
10-21 days
What is the infectivity period of someone with chicken pox?
<ul><li>4 days before rash until 5 days after rash appears</li></ul>
What are the clinical features of chicken pox?
<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>
What are some differential diagnoses for chicken pox?
<ul><li>Herpes simplex</li><li>Hand, foot and mouth disease</li><li>Scabies</li></ul>
What is the most common complication of chicken pox?
<ul><li>Secondary bacterial infeciton of the lesions due to scratching</li></ul>
What can secondary bacterial infection of chickenpox rash result in?
<ul><li>Invasive group A streptococcal soft tissue infection-> necrotizing fascitis</li></ul>
What are some complications of chicken pox?
<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>
What is Reye’s syndrome?
<ul><li>Rare but serious condition that affects children and teenagers recovering from a viral infection</li><li>Swelling in liver and brain->vomiting, confusion, seizures and LOC</li></ul>
What is rubella caused by?
<ul><li>Rubella togavirus</li></ul>
What is the incubation period for rubella?
<ul><li>14-21 days</li></ul>
What is the main complication that can arise from rubella in unvaccinated pregnant women?
<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>
What causes diphtheria?
<ul><li>Gram positive bacterium Corynobacterium diphtaeriae</li></ul>
What does a sore throat with a diphtheric membrane look like?
<ul><li>Grey, pseudomembran on posterior pharyngeal wall</li></ul>
What is scalded skin syndrome?
<ul><li>Severe desquamating rash that primarily affects infants</li></ul>
<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>
What causes whooping cough?
<ul><li>Bordatella pertussis-gram negative bacterium</li></ul>
What are the different phases of whooping cough?
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>
What causes the inspiratory whoop in whooping cough?
<ul><li>Forced inspiration agaist a closed glottis</li></ul>
What factors might make coughing bouts worse in patients with whooping cough?
<ul><li>Usually worse at night and after feeing</li></ul>
What are some differential diagnoses for whooping cough
<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>
What investigations might be done in a patient with whooping cough?
<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>
What is the diagnostic criteria for whooping cough?
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>
What are some ocmplications of whooping cough
<ul><li>Subconjunctival heamorrhage</li><li>Pneumonia</li><li>Bronchiectasis</li><li>Seizures</li></ul>
What are the most common causes of meningitis in neonates to 3 month olds?
<ul><li>Group B strep-usually acquired at birth</li><li>E.Coli and other gram negative organisms</li><li>Listeria monocytogenes</li></ul>
What are the most common causative organisms of meningitis in 1 month to 6 year old?
<ul><li>Neisseria meningitidis</li><li>Strep pneumoniea</li><li>H.influenzae</li></ul>
What are the most common causative organisms of meningitis in children over 6 years old?
<ul><li>Neisseria meningitidis</li><li>Streptococcus pneumoniea</li></ul>
What is the most common fungal causative organism of meningitis?
<ul><li>Cryptococcus neoformans</li></ul>
What are some contraindications to doing a LP?
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>
What investigation should be done in patients with meningococcal scepticaemia?
<ul><li>Blood cultures and PCR for meningococcus </li><li>NOT LP</li></ul>
What are some differential diagnoses for meningitis?
<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>
What antibiotic prophylaxis is given to contacts of those with meningitis?
Ciprofloxacin
What is slapped cheek syndrome also known as?
<ul><li>Fifth disease</li><li>Eryhtema infectiosum</li></ul>
What causes Fifth disease?
<ul><li>Parvovirus B19</li></ul>
What does the parvovirus B19 target and what does this cause?
<ul><li>Erythroid progenitor cells->haematological complications</li></ul>
What happens to the slapped cheek rash over time?
<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>
What advice should a pregnant woman be given if exposed to fifthe disease?
<ul><li>Can affect unborn baby in first 20 weeks</li><li>Check IgM and IgG(maternal)</li></ul>
What complications might arise from Fifth’s disease?
<ul><li>Red cell aplasia-aplastic crisis especially unvulnerable groups(sickle cell, hereditary spherocytosis)</li><li>Severe foetal anaemia</li><li>Cardiomyopathy</li></ul>
What is pneumonia?
Infection of the lower respiratory tract and lung parenchyma resulting in consolidation and impaired gas exchange
What is an important cause of penumonia that should be considered in all ages?
<ul><li>Mycobacterium tuberculosis</li></ul>
What are the symptoms of pneumonia in children that point towards a bacterial infection?
<ul><li>Localised chest and abdominal pain</li><li>Neck pain-> signs of pleural irritation</li></ul>
Name some signs of pneumonia in children?
<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->viral infection</li></ul>
What investigations might be done to diagnose pneumonia in children?
<ul><li>CXR: consolidation, parapneumonic effusion, empyema</li><li>Nasopharyngeal aspirate in younger children to ID viral causes</li></ul>
What is asthma?
<ul><li>Common, long term inflammatory disease of the airways characterised by reversible airway obstruction and bronchospasm</li></ul>
What investigations might be used to diagnose asthma?
<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->atopy and identify triggers</li></ul>
What is an LTRA and give an example
<ul><li>Leukotriene receptor antagonist</li><li>Montelukaus</li></ul>
What are the features of moderate acute asthma?
<ul><li>O2>92%</li><li>Peak flow: >50% predicted</li><li>No symptoms of severe asthma</li></ul>
What is croup?
<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>
What is the most common cause of croup?
<ul><li>Parainfluenza virus</li></ul>
What are some causes of croup?
<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>
What are some of the broad features of croup?
<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>
What investigations might be used to diagnose croup?
<ul><li>FBC, CRP, U&Es</li><li>Viral PCR to ID virus</li><li>CXR: 'steeple sign' and excludes foreign body aspiration as differential</li></ul>
What are some differentials for croup?
<ul><li>Epiglottitis->no barking cough</li><li>Foreign body aspiration</li><li>Bacterial tracheitis-> high fever, severe respiratory distress</li><li>Asthma</li></ul>
What age group is most likely to be admitted for croup and why?
<12 months as they already have a narrower airway
What is bronchiolitis?
<ul><li>Viral infection of the bronchioles that causes inflammation and congestion</li></ul>
What age group does bronchiolitis mostly affect?
<ul><li>1-9 months</li></ul>
What are the indications for a non-urgen admission in a patient with bronchiolitis?
<ul><li>Respiratory rate >60</li><li>Clinical dehydration</li></ul>
What are the indications for an urgent admission in a patient with bronchiolitis?
<ul><li>Apnoea</li><li>Repsiratory rate >70</li><li>Central cyanosis</li><li>SPO2<92%</li></ul>
What is the prophylaxis for bronchiolitis?
<ul><li>Palvizumab vaccine </li></ul>
What is the main complication of bronchiolitis?
<ul><li>Bronchiolitis obliterans(popcorn lung)</li></ul>
What investigations might be done in patients with suspected bronchiolitis obliterans?
<ul><li>CXR</li><li>CT</li><li>Biopsy</li><li>Pulmonary function tests</li><li><FEV1</li></ul>
What is cyctic fibrosis?
<ul><li>Progressive, autosomal recessive disorder that cuases persistent lung infections and limits the ability to breathe over time</li></ul>
What group of people is cystic fibrosis most common in?
<ul><li>Caucasians-1/25 people in UK have mutation</li></ul>
What is acute epiglottitis?
<ul><li>Rapidly progressing infection that leads to inflammation of the epiglottis and adjacent tissue-> blockage of upper airway-> death</li></ul>
What age is most affected by acute epiglottitis?
Age 1-6 years
What causes acute epiglottitis?
<ul><li>Haemophilius Influenzae type B</li></ul>
What investigations might be done in a patient with suspected acute epiglottitis?
<div><ul><li>DO NOT EXAMINE THROAT-> risk of triggering airway obstruction</li><li>Involve senior clinicians-> direct visualisation of inflamed epiglottis-done using laryngoscopy after securing airway</li><li>X-ray-> lateral: thumb sign, posterior: anterior steeple </li><li>Cultures: ID causative organism</li></ul></div>
What condition can viral induced wheeze in childhood put you at higher risk of in later life?
<ul><li>Asthma</li></ul>
What age group is most affected by viral induced wheeze?
<ul><li>~< 3 years</li></ul>
What is the difference between viral induced wheeze and asthma?
Viral induced wheeze:<br></br><ul><li><3 years</li><li>No history of atopy</li><li>Only occurs during viral infections</li></ul>
What is the difference between an episodic wheeze and a mutliple trigger wheeze?
<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>
What is otitis media?
<ul><li>Infection of the middle ear</li></ul>
What causes otitis media?
<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>
What are the different types of otitis media?
<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>
What investigations might be done in a patient with suspected glue ear?
<ul><li>Clinical->physical exam of tympanic membrane through otoscopy</li><li>Tympanometry(pressure)</li><li>Assess presence of systemic illness</li></ul>
What are the indications for admitting a patietn with otitis media to hospital?
<ul><li><3 months and temperature >38 degrees</li><li>Suspected complications-> meningitis, mastoiditis, facial nerve palsy etc</li><li>Systemically unwell or increased risk of complication</li></ul>
What antibiotics are used to treat otitis media?
<ul><li>Amoxicillin for 5-7 days</li><li>If no imrpovement: co-amoxiclav</li></ul>
What is otitis media with effusion?
<ul><li>Glue ear</li><li>Infection and inflammation or the middle ear resulting in the accumulation of lfuid</li></ul>
What can otitis media with effusion result in?
<ul><li>Hearing loss, speech and language delays, bheavioural issues due to blockage of the eustachian tube</li></ul>
What is periorbital cellulitis?
<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>
What is orbital cellulitis?
Serious infection of the soft tissues behind the orbital septum<br></br>Life threatening: usually bacterial sinusitis
What is the difference between periorbital cellulitis and orbital cellulitis?
<ul><li>Periorbital: doesn't affect the contents of orbit, just the soft tissues</li><li>Orbital: affects the muscls of orbit</li></ul>
What causes periorbital cellulitis?
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>
What investigations might be used to diagnose periorbital cellulitis?
<ul><li>Clinical exam</li><li>Bloods-> raised inflammatory markers</li><li>Swabs of discharge</li><li>Contrast CT of sinus and orbits-> differentiate between preseptal.orbital</li></ul>
What is strabismus?
<ul><li>Squint</li><li>Misalignment of the eyes-> images on retine don't mathc-> diplopia</li></ul>
What are the 2 types of squint?
Concomitant squints<br></br>Paralytic squints
What are concomitant squints?
<ul><li>Imbalance in extra ocular muscles (convergent>divergent)</li><li><br></br></li></ul>
What are paralytic squints?
<ul><li>Paralysis in at least 1 extraocular muscle-> rare</li></ul>
What is ambylopia?
<ul><li>Affected eye becomes increasingly passive and loses function compared to other eye</li></ul>
What is esotropia?
Inward positioned squint(affected eye towards nose)
What is exotropia?
<ul><li>Outward positioned squint(towards ear)</li></ul>
What is hypotropia?
<ul><li>Downward movign affected eye</li></ul>
What is hypertropia?
<ul><li>Upward moving affeced eye</li></ul>
What investigations might be done to diagnose a squint?
<ul><li>Inspection</li><li>Eye movemebts</li><li>Visual acuity</li><li>Fundoscopu-> look for red reflex to rule out retinal pathology</li><li>Hirschberg's test</li><li>Cover test</li></ul>
What is impetigo?
<span>highly contagious superficial epidermal infection of the skin primarily caused by Staphylococcal and Streptococcal bacteria.</span>
What are the most common causes of impetigo?
<ul><li>S.aureus</li><li>S.pyogenes</li></ul>
What age group(s) does impetigo most commonly affect?
<ul><li>Infants</li><li>School age children</li></ul>
What condition is this likely to be?<br></br><img></img>
What are the different types of impetigo?
<ol><li>Bullous-causing large blisters</li><li>Non-bullous-Causing sores</li></ol>
What bacteria causes bullous impetigo
<ul><li>S. aureus ALWAYS</li></ul>
Should children with impetigoe be kept off school?
Yes-until lesions are crusted/healed OR 48 hours after commencing antibiotic treatment
What causes scarlet fever?
<ul><li>Group A haemolytic strep-S.pyogenes</li></ul>
What is the incubation period of scarlet fever
<ul><li>2-4 days</li></ul>
What are the 3 shunts in fetal circulation?
<ul><li>Ductus venosus</li><li>Foramen ovale</li><li>Ductus arteriosus</li></ul>
What does the ductus venosus connect and what does it bypass?
<ul><li>Connects umbilical vein to inferior vena cava</li><li>Bypass liver</li></ul>
What does the foramen ovale connect and what is bypassed because of it?
<ul><li>Between right atrium and left atrium</li><li>Blood bypasses the right ventricle and pulmonary circulation</li></ul>
What does the ductus arteriosus connect and what does it bypass?
<ul><li>Pulmonary artery with aorta</li><li>Blood bypasses pulmonary circulation</li></ul>
What does the ductus venosus become?
<ul><li>Ligamentim venosum</li></ul>
What does the ductus arteriosus become when it closes?
<ul><li>Ligamentum arteriosum</li></ul>
What does the foramen ovale become?
<ul><li>Fossa ovalis</li></ul>
What group are innocent murmus most common in?
Children
What causes innocent murmurs?
<ul><li>Fast blood flow through areas of the ehart during systole</li></ul>
What are the features of an innocent murmur?
<ul><li>Soft</li><li>Short</li><li>Systolic</li><li>Symptomless</li><li>Situation dependent-> quieter with standing, only appears when ill or feverish</li></ul>
What investigations owuld be done in a patient with a murmur?
<ul><li>ECG</li><li>CXR</li><li>Echo</li></ul>
What are the differentials of a pan-systolic murmur?
<ul><li>Mitral regurgitation</li><li>Tricuspid regurgitation</li><li>VSD</li></ul>
What causes cyanotic heart disease?
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>
What is Eisenmenger syndrome?
<ul><li>Pulmonary pressure increases beyond the systemic pressure</li><li>Blood flows from right to left across the defect causing cyanosis</li></ul>
<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>
What are the different types of atrial spetal defects?
<ul><li>Ostium secondum</li><li>Patent foramen ovale</li><li>Ostium primum-leads to AV wall defect</li></ul>
What are some complications of an atrial spetal defect?
<ul><li>Stroke-VTE</li><li>AF/atrial flutter</li><li>Pulmonary hypertension and right heart failure</li><li>Eisenmenger syndrome</li></ul>
What is splitting of the second heart sound?
<ul><li>Closure of aortic and pulmonary valves at slighlty different times</li></ul>
What is meant by a fixed split?
<ul><li>Second heart sound split does not change with inspiration or expiration</li></ul>
What conditions is coarctation of the aorta associated with?
<ul><li>Turner's </li><li>Bicuspid aortic valve</li><li>Berry aneurysms</li><li>Neurofibromatosis</li></ul>
What conditions are coarctation of the aorta commonly associated with?
<ul><li>Down's syndrome</li><li>Turner's syndrome</li></ul>
Name some symptoms of a VSD in a neonate
<ul><li>Poor feeding</li><li>Dyspnoea</li><li>Tachypnoea</li><li>Failure to thrive</li></ul>
What are patients with VSDs at increased risk of?
<ul><li>Infective endocarditis-use antibiotic prophylaxis</li></ul>
What are the 4 coexisting pathologies in tetralogy of fallot?
<ol><li>VSD</li><li>Overriding aorta</li><li>Pulmonary valve stenosis</li><li>RVH</li></ol>
What is meant by ‘overriding aorta’?
<ul><li>Entrance to aorta(aortic valve) is placed further to the right than normal, above the VSD</li></ul>
What causes right ventricular hypertrophy in tetralogy of fallot?
<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>
Name some risk factors for tetralogy of fallot
<ul><li>Rubella</li><li>Increased maternal age</li><li>Alcohol consumption in pregnancy</li><li>Diabetic mother</li></ul>
What investigations are used to diagnose tetralogy of fallot?
<ul><li>Echo with doppler flow studies</li><li>CXR: boot shaped heart</li></ul>
Name some symptoms of tetralogy of fallot
<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>
What are tet spells?
<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>
Name some things that can trigger tet spells
<ul><li>Waking</li><li>Physical exertion</li><li>Crying</li></ul>
What can severe tet spells result in?
<ul><li>Reduced consciousness</li><li>Cyanosis</li><li>Shortness of breath</li></ul>
Name the signs of transposition of the great arteries
<ul><li>Loud single S2</li><li>Prominent RV impulse</li><li>'Egg on side' appearance on CXR</li></ul>
What is Ebstein’s anomaly?
<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>
What is Ebstein’s anomaly associated with?
<ul><li>Exposure to lithium in pregnancy</li><li>Patent foramen ovale and atrial septal defect</li><li>Wolff-Parkinson White syndrome</li></ul>
Name the signs of Ebstein’s anomaly
<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->pansystolic murmur worse on inspiration</li><li>RBBB-> widely split S1 and S2</li></ul>
What is congenital aortic valve stenosis?
<ul><li>Narrow aortic valve that restricts blood flow through the left ventricle into the aorta</li></ul>
Name some signs of congenital aortic valve stenosis
<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>
What is congenital pulmonary valve stenosis?
<ul><li>Leaflets of pulmonary valve develop abnormally, becoming thickened or fused-> narrow openign between RV and pulmonary artery</li></ul>
What conditions is congenital pulmonary valve stenosis associated with?
<ul><li>Tetralogy of Fallot</li><li>William syndrome</li><li>Noonan syndrome</li><li>Congenital rubella syndrome</li></ul>
Name the signs of congenital pulmonary valve stenosis
<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>
Until what age is nocturnal enuresis considered normal until?
5 years
What is primary nocturnal enuresis?
<ul><li>Child has never achieved continence before</li></ul>
What is secondary nocturnal enuresis?
<ul><li>Child has been dry for at least 6 months before</li></ul>
What investigations might be done in a patient with nocturnal enuresis?
<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>
What is haemolytic uraemic syndrome?
<ul><li>Renal limited form of thrombotic microagniopathy</li></ul>
What causes secondary/typical haemolytic uraemic syndrome?
<ul><li>Shiga toxin producing E.Coli</li><li>Also pneumococcal infection, HIV, SLE</li></ul>
What causes primary/typical haemolytic uraemic syndrome?
<ul><li>Complement dysregulation</li></ul>
What investigations might be done in a patient with suspectted haemolytic uraemic syndrome?
<ul><li>FBC: Hg<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>
What is a urinary tract infections?
<ul><li>Infection in any area of the urinary tract->kidneys, ureters, bladder, urethra</li></ul>
What investigations should be done for a suspected UTI?
<ul><li>Urine disptick-leukocytes and nitrites</li><li>Culture using appropriately collected urine</li></ul>
What investigations are done to diagnose vesicoureteric reflux
<ul><li>US KUB</li><li>Voiding cystourethrogram(VCUG) or nuclear cystogram(visualise refluz of urine from bladder)</li></ul>
What is the most common presenting symptoms of Wilms’ tumour
Palpable abdominal mass<br></br><ul><li>Usually doesn’t cross the midline</li><li>Can be bilateral in <5% of cases</li></ul>
Name some symptoms of Wilms’ tumour
<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>
What is the most common site for a Wilms’ tumour to metastasize to?
<ul><li>Lung</li></ul>
What investigations should be done in a patient with suspected Wilms’ tumour?
Unexplained large abdominal mass-> REVIEW by paediatrician within 48hours<br></br><ul><li>CT chest, abdo, pelvis</li><li>Renal biopsy-> definitive</li></ul>
<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
What is the prognosis for a Wilms’ tumour
<ul><li>Good: 80-90% cure rate</li></ul>
What is cryptorchidism?
Undescended testes-one or both are not present within the dependent portion of the scrotal sac by 3 months
What is the difference between cryptorchidism and retractile testis
Retractile testis can be manipulated into scrotum and are sometimes there
What is included in an orchidopexy
Inguinal exploration, mobilisation of testis and implantation into a dartos pouch
What are the reasons for operating on a patient with cryptorchidism
<ul><li>Lowers risk of infertility</li><li>Undescended testes-> 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>
What indicates higher risk for developing seminomas in a patient with cryptorchidism
<ul><li>Higher the testes in the abdomen the higher the risk fo developing seminomas</li></ul>
What is hypospadias?
<ul><li>Congenital abnormality where the urethra is abnormally located on the ventral(underside) of the penis</li></ul>
What is the most common place for the urethra to be located in a patient with hypospadias
<ul><li>Distal ventral side</li></ul>
What conditions is<b> </b>hypospadias associated with?
<ul><li>Cryptorchidism(10%)</li><li>Inguinal hernia</li></ul>
What is the most important thing to remember in a patient with hypospadias prior to having corrective surgery?
<ul><li>Should not be circumcised-> foreskin used in procedure</li></ul>
What is phimosis?
<ul><li>Non-retractable foreskin with associated scarring that will not resolve spontaneously </li><li>Normal in infants and young children</li></ul>
What is paraphimosis?
<ul><li>Foreskin can't return to original position after being retracted</li></ul>
What is nephrotic syndrome?
<ul><li>Clinical syndrome that arises due to increase permeability of serum proteins through a damaged basement membrane in the renal glomerulus</li></ul>
What is the classic triad of nephrotic syndrome?
<div><ol><li>Proteinuria(>3g/24hr)</li><li>Hypoalbuminaemia(<30g/L)</li><li>Oedema</li></ol><div><br></br></div></div>
<div>Also hyperlipidaemia and lipiduria</div>
What is the most common cause of nephrotic syndrome in children?
<ul><li>Minimal change disease</li></ul>
What is the most common cause of nephrotic syndrome in adults?
<ul><li>Membranous nephropathy</li></ul>
Name some secondary causes of nephrotic syndrome
<ul><li>Diabetes</li><li>SLE</li><li>Amyloidosis</li><li>Infections: HIV/Hep B/C</li><li>Drugs: NSAIDs</li></ul>
What investigations would be done in a patient with nephrotic syndrome?
<ul><li>Urine disptick-> proteinuria and check for microscopic haematuria</li><li>MSU-> exclude UTI</li><li>Urine analysis-> increased ACR ratio</li><li>Renal biopsy if atypical presentation</li><li>FBC/coag screen/U&Es</li></ul>
What age group does minimal change disease usually affect?
1-8 years
What investigations might be done in a patient with minimal change disease?
<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>
What are the key features of nephritic syndrome
<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>
What is the most common cause of primary glomerulonephritis?
<ul><li>IgA nephropathy</li></ul>
What age groupd is IgA nephropathy most commonly seen in?
<ul><li>Aged 20-30 years</li></ul>
What investigations might be done in a patient with suspected IgA nephropathy?
<ul><li>Urinalysis and MC+S: blood/protein</li><li>GS: renal biopsy and immunofluorescence-> diffuse mesangial IgA immune complex deposition</li><li>Serum IgA levels high in about 50%</li></ul>
What conditions are associated with IgA nephropathy?
<ul><li>Alcoholic cirrhosis</li><li>Coeliac disease/dermatitis herpetiformis</li><li>Henoch-Schonlein purpura</li></ul>
What is post strep glomerulonephritis?
Immune complex mediated GN that typically occurs 1-3 week after a streptococcla URTI
What group of people is post strep glomerulonephritis most commonly seen in?
<ul><li>Children more than adulta</li></ul>
What causes post strep glomerulonephritis?
<ul><li>Specific strains of Group A beta haemolytic streptococci</li></ul>
What investigations might be done in a patient with post strep glomerulonephritis
<ul><li>Urinalysis: blood and maybe protein</li><li>Urine microscopy: dysmorphic RBCs(bleeding from glomerulus)</li><li>FBC: raised WCC</li><li>U&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>
Name some symptoms of rapidly progressive glomerulonephritis
<ul><li>Oliguria</li><li>Haematuria</li><li>Proteinuria</li><li>Hypertension</li><li>Oedema</li><li>Loss of appetite</li></ul>
What is rapidly progressive glomerulonephritis?
<ul><li>Subtype of glomerulonephritis that progresses to end stage renal failure in weeks to months</li></ul>
What is hypogonadism?
<ul><li>Endocrine disorder where the testes produce insufficient sex hormones, particularly testosterone</li></ul>
Name some risk factors for hypogonadism
<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>
What health issues is hypogonadism associated with?
<ul><li>Infertility</li><li>Osteoporosis</li><li>Gynaecomastia</li></ul>
What investigations might be done in a patient with hypogonadism?
<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>
What is Klinefelter syndrome?
<ul><li>Male as additional X chromosome: 47XXY</li></ul>
<div>Can rarely also be 48XXXY or 49XXXXY-more severe</div>
What conditions are people with Klinefelter syndrome more at risk of?
<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>
What is the most common renal abnormality in patients with Turner’s syndrome?
Horseshoe kidney
What cardiology conditions are associated with Turner’s syndrome?
<ul><li>Bicuspid aortic valve(15%)</li><li>Coarctation of the aorta(5-10%)</li></ul>
What conditions are associated with Turner’s syndrome?
<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>
What is Down’s syndrome?
<ul><li>Genetic condition resulting from the presence of 3 copis of chromosome 21 instead of 2</li><li>Trisomy 21</li></ul>
What are the 3 main genetic mechanisms responsible for Down’s syndrome?
<ol><li>Gamete non-disjunction-mc, associated with increasing maternal age</li><li>Robertsonian translocation-4%</li><li>Mosaic Down syndrome-lc</li></ol>
What is the combined test? (Down’s syndrome screening)
<ul><li>1st line and most accurate</li><li>US: nuchal translucency(Down's: >6mm)</li><li>Maternal bloods: B-HCG(higher), pregnancy associated plasma protein A(lower)</li></ul>
What are women offered if their antenatal screenign comes back with a >1/150 chance of having a baby with Down’s syndrome?
<ul><li>Chorionic villus sampling(CVS): US guided biopsy of placental tissue-done before 15 weeks</li><li>Amniocentesis-> US guided aspiration of amniotic fluid(done later on)</li></ul>
What is non-invasive prenatal testing(Down’s syndrome)?
<ul><li>Blood test from mother, will contrain fragments of DNA and some will come fromplacental tissue and represent fetal DNA-> analysed to detect Down's</li></ul>
What are the key features of Edward’s syndrome?
<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>
What is Edward’s syndrome?
<ul><li>Trisomy 18</li></ul>
What is Patau’s syndrome?
<ul><li>Trisomy 13</li></ul>
What are the key features of Patau syndrome?
<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>
What are the features of Fragile X?
<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>
What is the difference between Pierre-robin syndrome and Treacher-Collins syndrome?
<ul><li>Similar features, Treacher-Collins is autosomal dominant so will have family history</li></ul>
What is meany by ‘muscular dystrophy’?
<ul><li>Umbrella term for genetic conditions that cause gradual weakening and wasting of muscles</li></ul>
What is the main clinical exam finding in a patient with muscular dystrophy and why?
<ul><li>Gower's sing</li><li>Due to proximal muscle weakness: will use hands on legs to help them stand up</li></ul>
What is the inheritance of Duchenne Muscular dystrophy?
<ul><li>X-Linked recessive</li></ul>
What causes Duchenne Muscular Dystrophy?
<ul><li>X-Linked recessive disorder in the dystrophin gene</li><li>Dystrophin genes reqquired for normal muscular function</li></ul>
What investigatinos are done to diagnose Ducehnne msuclar dystrophy?
<ul><li>Creatine kinase: raised</li><li>Genetic testing: now replaced muscle biopsy for a definitive diagnosis</li></ul>
What is myotonic dystrophy?
<ul><li>Genetic disorder that usually presents in adulthood</li></ul>
What is Angelman syndrome?
<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. </li></ul>
What is Prader willi syndrome?
<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>
What is the difference in inheritance between prader willi syndrome and angelman’s syndrome?
<ul><li>Prader Willi if gene deleted from father</li><li>Angelman if gene deleted from mother</li></ul>
What is Noonan syndrome?
<ul><li>''Male Turner's'</li><li>Autosomal dominant associated with a normal karyotype-> defect in gene on chromosome 12</li></ul>
What conditions are associated with Noonan syndrome?
<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>
What conditions are associated with William’s syndrome?
<ul><li>Supravalvular aortic stenosis</li><li>ADHD</li><li>Hypertenison</li><li>Hypercalcaemia</li></ul>
What is osteogenesis imperfecta?
<ul><li>Genetic disorder primarily affecting the body's pruduction of collagen, resulting in bone fragility and fractures</li></ul>
What investigations might be done to diagnose osteogenesis imperfecta?
<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>
What is Ricket’s?
<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>
What investigations might be done in a patient with suspected rickeets?
<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>
What is osteomyelitis?
<ul><li>Infection of the bone that can be acute or chronic caused by bacterial or fungal pathogens</li></ul>
What are the most common causative organisms of osteomyelitis?
S. aureus most commonly<br></br><ul><li>Also coagulase negative staphylococci</li></ul>
What is the most common cause of osteomyelitis in patients with sickle cell?
<ul><li>SSalmonella species</li></ul>
What investigations might be done in a patient with osteomyelitis?
<ul><li>Definitive: bone biopsy</li><li>MRI: gold standard imaging-bone marrow oedema </li><li>Raissed inflammatory markers, cultures etc</li></ul>
Wha is septic arthritis?
<ul><li>Infection of the synvial fluid in the joint, typically caused by bacterial or viral pathogen</li></ul>
What investigations are used to diagnose septic arthritis?
<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>
What is the Kocher criteria for diagnosing septic arthritis?
<ul><li>Fever >38.5 degrees</li><li>Non-weight bearing</li><li>Raised ESR</li><li>Raised WCC</li></ul>
What is Perthes’ disease?
<ul><li>Degenerative condition caused by avascular necrosis of the femoral head in children, specifically the femoral epiphysis</li></ul>
What is Slipped Upper Femoral Epiphysis?
<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>
Name some risk factors for Slipped Upper Femoral Epiphysis
<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>
What is osgood schlatter disease?
<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>
What is developmental dysplasia of the hip?
<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>
Wen is screening for developmental dysplasia of the hips done?
<ul><li>Newborn baby check</li><li>6 week baby check</li></ul>
What infants require a routine US for developmental dysplasia of the hips?
<ul><li>1st degree family history of hip problems in early life</li><li>Breech presentation >=36 weeks gestation, irresepctive of presentaiton at birth or mode of delivery</li><li>Multiple pregnancy</li></ul>
What is juvenile idiopathic arthritis?
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>
What investigations might be done in a patient with Still’s disease?
<ul><li>ANA and RF: typically negative</li><li>Raised inflammatory markers: CRP, ESR, platelets, ferritin</li></ul>
What is a key investigation finding in a patient with macrophage activation syndrome
<ul><li>Low ESR</li></ul>
What is polyarticular JIA?
<ul><li>Idiopathic inflammatory arthritis in >=5 joints</li></ul>
What is oligoarticular JIA?
<ul><li>Pauciarticular JIA</li><li>Monoarthirits-usually larger joints, often knee or ankles</li></ul>
What is enthesitis relateed JIA?
<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>
What is enthesitis?
<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>
What gene is associated bwith enthesitis relateed arthritis?
<ul><li>HLAB27</li></ul>
Name some typical features of torticollis
<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>
What is adolescent idiopathic scoliiosis?
<ul><li>Structural spinal deformity characterised by decompensation of the normal verterbral alignment during rapid skeletal growth in otherwise healthy children</li></ul>
What is discoid meniscus?
<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>
What condition is associated with discoid meniscus?
<ul><li>Meniscal tear</li></ul>
What are the 4 types of leukamia?
<ul><li>Acute myeloid</li><li>Acute lymphoblastic</li><li>Chronic myeloid</li><li>Chronic lymphocytic</li></ul>
What causes acute lymphoid leukaemia?
<ul><li>Impaired cell differentiation resulting in large numbers of malignant precurose cells in the bone marrow</li></ul>
What causes chronic leukaemia?
<ul><li>Excess proliferation of mature malignant cells but cell differentiation is unaffected</li></ul>
What causes myeloid leukaemia?
<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>
What causes lymphocitic anaemia?
<ul><li>Arises from a lymphoid precursor such as a B or T cell</li><li><img></img><br></br></li></ul>
What condition is associated with ALL?
<ul><li>Down's sndrome</li></ul>
What is the most common form of acute leukaemia in adults?
<ul><li>AML</li></ul>
What is AML commonly associated with?
<ul><li>Myelodysplastic syndrome</li></ul>
What demographic is usually affected by AML?
<ul><li>Older adults</li></ul>
What genetic change is associated with AML?
<ul><li>t(15,17)</li><li>translocation</li></ul>
What can AML result from?
<ul><li>Myeloproliferative disorder like polycythaemia rubra vera or myelofibrosis</li></ul>
What causes tumour lysis syndrome?
<ul><li>Results from chemicals released when cells are destroyed by chemotherapy</li></ul>
What does uric acid result in?
<ul><li>High uric acid-> AKI (crystals in interstitial space aand tubules of kidneys)</li><li>Hyperkalaemia-> cardiac arrhythmias</li><li>High phosphate-> hypocalcaemia</li><li>Release of cytokines can cause systemic inflammation</li></ul>
What are the key things to remember about AML
<ul><li>Associated with Auer rods</li><li>Can arise from a myeloproliferative disorder</li></ul>
What are the key things to remmeber about CML?
<ul><li>3 phases including long chronic phase</li><li>Associated with Philadelphia chromosome</li></ul>
What age groups is most commonly affected by CML?
<ul><li>40-50yrs</li><li>60-70yrs??</li></ul>
What are the 3 phases of CML?
<ul><li>Chronic</li><li>Accelerated</li><li>Blast</li></ul>
What happens in the chronic phase of AML?
<ul><li>Often asymptomatic</li><li>Pateints diagnosed from incidental finding of raised WCC</li><li>Can last years before progressing</li></ul>
What happens in the accelerated phase of CML?
<ul><li>Abnormal blast cells take up 10-20% of bone marrow and blood cells</li><li>More symptomatic-> anaemia, throombocytopenia and immunodeficiency</li></ul>
What happens in the blast phase of CML?
<ul><li>>20% blast cells in the blood</li><li>Sever symtpoms include pancytopenia</li><li>Often fatal</li></ul>
What is the philadelphia chromosome?
<ul><li>t(9:22)</li><li>>95% of CML</li><li>Also called BCR-ABL</li></ul>
What age gruop is most commonly affcetd by ALL?
<ul><li>4-5 yrs</li></ul>
What causes ALL?
<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-> pancytopenia</li></ul>
What are the key things to remember about ALL
<ul><li>Most common leukaemia in children</li><li>Associated with Down's syndrome</li></ul>
What are the key things to remember about CLL?
<ul><li>Associated with haemolytic anaemia</li><li>Richter's transformation</li><li>Smudge cells</li></ul>
What age groups is most commonly affected by CLL?
<ul><li>>60 years</li></ul>
What is Richter’s transformation?
<ul><li>Occurs when leukamia cells enter lymph node and change into high grade, fast growin non-Hodgkiin's lymphoma</li></ul>
What investigations might be done to diagnose a paediatric brain tumour?
<ul><li>MRI/CT</li><li>LP</li><li>Biopsy</li></ul>
What is the most common form of brain tumours in the general population?
<ul><li>Metastatic brain cancer</li></ul>
What is the most common primary brain tumour in children?
<ul><li>Pilocytic astrocytoma</li></ul>
What is a medulloblastoma?
<ul><li>Aggressive paediatric brain tumour</li></ul>
What is the median age of onset for a neuroblastoma?
<ul><li>Around 20 months</li></ul>
What investigations might be done in a patient with a suspected neuroblastoma?
<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>
What is pyloric stenosis?
<div><ul><li>Pyloric sphincter(circular muscle at the base of the stomach controlling gastric emptying into small intestine) becomes hypertrophied-> narrowing of gastric outlet and gastric outlet obstruction</li></ul></div>
What age group is most commonly affected by pyloric stenosis?
<ul><li>2-8 weeks</li></ul>
What are the complications of pyloric stenosis?
<ul><li>Hypochloremic hypokalemic metabolic alkalosis</li><li>Dehydration</li></ul>
What investigations are used to diagnose pyloric stenosis?
<ul><li>Abdo USS: Visualise hypertrophic pyloric sphincter</li><li>Length: >16-18 mm and thickness >3-4 mm</li></ul>
What is mesenteric adenitis?
<ul><li>Inflammatory condition that involves the lymph nodes in the abdmone and can mimic appendicitis</li></ul>
What investigations might be done in a patient with mesenteric adenitis?
<ul><li>FBC: no raised wcc or inflammatory markers</li><li>USS abdomen: enlarged mesenteric lymoh nodes and normal appendix(if visualised)</li></ul>
What is <span>Intussusception</span>
<ul><li>Invagination(telescoping) of a segment of the proximal bowel into a distal bowel segment</li></ul>
What is the most common site in which i<span>ntussusception happens?</span>
<ul><li>Ileum passing into caecum through ileocaecal valve</li></ul>
What age group is most commonly affected by i<span>ntussusception</span>
<ul><li>Primarily infants: peaks 3 months-2 years</li></ul>
Name some risk factors for i<span>ntussusception</span>
<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>
What gender is more commonly affected by i<span>ntussusception?</span>
<ul><li>Boys affected twice as often as girls</li></ul>
What is intestinal malrotation?
<ul><li>Congenital abnormality where the midgut undergoes abnormal rotation and fixation during embryogenesis making is susceptble to volvulus</li></ul>
What conditions does intestinal malrotation occur in?
<ul><li>Exomphalos</li><li>Congenital diaphragmatic hernia</li><li>Intrinsic duodenal atresia</li></ul>
What is the msot common cause of vomiting in children and why?
<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>
What causes the progressing pain in patients with appendicitis?
<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>
What investigations should be done in a patient with suspected appendicitis?
<ul><li>VBG: lactate</li><li>Pregnancy test</li><li>Urine dip: leukocytes</li><li>FBC, CRP, LFTS, U&</li><li>CXR: rulee out perforation</li><li>CT abdo pelvis/USS of RIF-usually only used if doubt about diagnosis</li></ul>
What is biliary atresia?
<ul><li>Rare but seriosu conditions where bile ducts in newborn's liver undergo fibrosis and destruction-> can be fatal</li></ul>
<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>
Name some signs of biliary atresia
<ul><li>Jaundice</li><li>hepato and splenomeglay</li><li>Abnormal gorwth</li><li>Cardiac murmus</li></ul>
What investigations might be done in a patient with biliary atresia?
<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>
What are febrile convlusions?
<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>
What investigations might be done in a child with a suspected febrile convlusion
<ul><li>Bloods to rule out infection</li><li>LP if CNS infeciton suspected</li><li>EEG if recurrent or neuro deficits</li></ul>
What is the overall risk of further febrile convulsion?
<ul><li>1/3</li></ul>
What are some risk factors for further febrile seizures?
<ul><li>Age <18 months at onset</li><li>Fever: <39 degrees</li><li>Short duration of fever before seizure</li><li>Family history of febrile convulsions</li></ul>
What is the most common cause of constipation in children?
<ul><li>Idiopathic/dietary-low fibre, dehydration, psychosocial issues</li></ul>
Name some secondary causes of constipation in children
<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>
What is encopresis?
<ul><li>Faecal incontinence</li></ul>
What is cerebral palsy?
<ul><li>Permanent, non-progressive movement disorders that occur due to damage to a child's CNS</li></ul>
What are the subtypes of cerebral palsy
<ul><li>Spastic-mc</li><li>Dyskinetic</li><li>Ataxic</li><li>Mixed</li></ul>
What areas of the CNS are damamged in dyskinetic cerebral palsy?
<ul><li>Basal ganglia and substantia nigra</li></ul>
What areas of the CNS are damaged in ataxic cerebral palsy?
<ul><li>Cerebellar pathways</li></ul>
What investigations might be done in a child with suspected cerebral palsy?
<ul><li>MRI-visualise extent and nature of brain lesions</li><li>Genetics to rule out differentials/underlying genetic disorder</li></ul>
What is haemolytic disease of the newborn?
<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>
What investigations might be used in haemolytic disease of the newborn
<ul><li>Direct antiglobulin test(DAT)</li><li>USS to check for fetal oedema</li><li>LFT's to check for complications</li></ul>
What is a cephalohaemata?
<ul><li>Swelling on the newborns head-> typically develops several hours after delivery</li></ul>
What causes a cephalohaematoma?
<ul><li>Bleeding between the periosteum and skull</li></ul>
What is caput succedaneum?
<ul><li>Oedema to the scalp at the presenting part of the head, typically the vertex</li></ul>
What causes caput seccedaneum?
<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>
What are postpartum/puerperal infections?
<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>
What is the APGAR scor?
<ul><li>Used to assess the health of a newborn abby</li></ul>
What are the ccomponents of the APGAR score?
<ol><li>Appearance</li><li>Pulse</li><li>Grimace</li><li>Activity</li><li>Respiration</li></ol>
What is acute respiratory distress syndrome?
<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>
What criteria is used to determine if a patient has ARDS?
<ul><li>Berlin criteria-all of:</li><li>Acute onset(<1 week)</li><li>CXR-> bilateral opacities</li><li>Decreased ratio of arterial to inspired oxygen concentrations(Pa02/FiO2)<=300</li></ul>
What is neonatal respiratory distress syndrome?
<ul><li>AKA hyaline membrane disease</li><li>Life-threatening condition primarily affectinng premature infants characterised by deficient production of surfactant</li></ul>
What does surfactant do?
<div><ul><li>Lowers the surface tension within alveoli </li><li>Deficiency: increased surface tenssion and subsequent alveoli colllapse-> respiratory distress</li></ul></div>
What is surfactant?
<ul><li>Phospholipid containing fluid produced by type 2 pneumocytes in the lungs</li></ul>
Name some risk factors for neonatal respiratory distress syndrome
<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>
What is neonatal sepsis?
<ul><li>Severe systemic infection occuring in infants <90 days old </li><li>Early onset: <72 hours post birth</li><li>Late onset: >72 hours</li><li><br></br></li></ul>
What causes early onset neonatal sepsis?
<ul><li>Often ascending infections from the maternal genital tract or transplacental infections</li></ul>
What causes late onset neonatal sepsis
<ul><li>Usually organisms in hospital environemnt orr infant's intestinal flora</li></ul>
Name some risk factors that increase the likelihood of early-onset neonatal sepsis
<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 >18 hours for pre-term babies or >24 hours for term babies</li><li>Maternal temp >38</li><li>Suspected/confirmed maternal sepsis</li><li>Chorioamnionitis</li></ul>
What are the most common causes of early neonatal sepsis
<ul><li>Group B strep</li><li>E.</li></ul>
What is meconium aspiration syndrome?
<ul><li>Occurs when a newborn aspirates meconium into the lungs prior to birth-> neonatal morbidity</li></ul>
Name some risk factors for meconium aspiration syndrome
<ul><li>Post dates pregnancy: >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>
What is the general figure used to suggest neonatal hypoglycaemia?
<ul><li><2.6mmol/L</li></ul>
What is gastroschisis?
<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>
What is the main difference between gastroschisis and omphalocele?
<ul><li>Gastroschisis: abdominal contents slip outside <b>without a sac</b></li><li>Omphalocele: abdominal contents protrude into peritoneal sac</li></ul>
What is an omphalocele?
<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>
What is intestinal atresia?
<ul><li>Congenital malformation resulting in closed/absent part of small/large intestine</li></ul>
What condition is duodenal atresia strongly associated with?
<ul><li>Down's syndrome</li></ul>
What is oesophageal atresia?
<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>
What is a tracheo-oesophageal fistula?
<ul><li>Connection between the oesophagus and trachea</li></ul>
What is CHARGE syndrome?
<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>
Name some signs and symptoms of oesophageal atresia and tracheo-oesophageal fistula
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>
What is necrotising enterocilitis?
<ul><li>Severe GI disease that primarily affects premature infants. Necrosis of intestine due to ischaemia and infection-> perforatin of the bowel</li></ul>
Name somr risk factors for necrotising enterocilitis
<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>
What is a congenital diaphragmatic hernia?
<ul><li>Incomplete formation of the diaphragm that allows herniation of abdominal viscera into the thorax-> pulmonary hypoplasia and hypertension</li></ul>
What is the most common type of congenital diaphragmatic hernia
<ul><li>Left-sided posterolateral Bochdalek hernia</li></ul>
What is the prognosis for congenital diaphragmatic hernia
<ul><li>Only around 50% survive</li></ul>
What is jaundice?
<ul><li>Yellowing of skin and eyes due to an accumulation of bilirubin, a by product of RBC breakdown</li></ul>
Name the causes of jaundice in the first 24 hours post birth
<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>
Name the causes of jaundice in the 2-14 days post birth period
<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>
Name the causes of prolonged jaundice(>14 days/21 if preterm)
<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>
What causes physiological jaundice?
<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>
What is a jaundice screen?
<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&Es and LFTs</li></ul>
What is kernicterus?
<ul><li>Serious complication of untreated jaundice-> excess bilirubin damages brain, especially basal ganglia</li></ul>
Name some symptoms of kernicterus
<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>
What is a TORCH infection?
<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>
What does TORCH stand for?
<ul><li>Toxoplasma gondii</li><li>other: treponema pallidum, VZV, parvovirus B19, HIV</li><li>Rubella</li><li>CMV</li><li>HSV</li></ul>
What effect does treponema pallidum have on infants?
<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>
What is listeriosis?
<ul><li>Infeciton caused by bacterium listeria monocytogenes, foodborne</li></ul>
What groups of people is listeriosis dangerous for?
<ul><li>Immunocompromised</li><li>Pregnant women</li></ul>
What are the commonest variants of cleft lip/palate?
<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>
What is a major risk factor for developing cleft lip/palate
<ul><li>Maternal antiepileptic use</li></ul>
Name some symptoms of disseminated HSV in a neonate
<ul><li>Seizures</li><li>Encephalitis</li><li>Hepatitis</li><li>Sepsis</li></ul>
What is bronchopulmonary dysplasia?
<ul><li>AKA chronic lung disease of prematurity</li><li>Usually affects premature babies-> respiratory distress</li></ul>
What do babies with bronchopulmonary dysplasia typically require at birth
<ul><li>Intubation and ventilation</li></ul>
Name some triggers of seizures in children with established epilepsy
<ul><li>Sleep deprivation</li><li>Playing video games/watching TV</li></ul>
What are the different classifications of epilepsy in children?
<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>
What is Dravet’s syndrome?
<ul><li>Severe myoclonic epilepsy typically onsets in infancy in an otherwise healthy infant</li></ul>
What is the prognosis like for benign rolandic epilepsy?
<ul><li>Excellent prognosis</li><li>Usually resolved by adolescence</li></ul>
What is global developmental delay?
<ul><li>Dealy of at least 2 milestones in a child under the age of 5yrs</li></ul>
Name some soeech and hearing developmental milestones
<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>
What is a retinoblastoma?
<ul><li>Rare, malignant tumour of the retina that predmoninanly affects shildren under 5yrs</li></ul>
What cancers are linked to mutaitons in the RB1 gene?
<ul><li>Retinoblastoma</li><li>Osteosarcoma</li><li>Soft tissue sarcomas</li></ul>
What is the NICE referral criteria for retinoblastoma?
<ul><li>Urgent referral(<2ww) in children with absent red reflex</li></ul>
What is hepatoblastoma?
<ul><li>Malignant tumour of the liver which usually occurs in young children(1-2yrs)</li></ul>
What is osteosarcoma?
<ul><li>Malignant neoplasm derived from primitive transformed cells of mesenchymal origin that exhibit osteoblastic differentiation and produce malignant osteoid</li></ul>
Name some risk factors for osteosarcoma
<ul><li>Hx of radiaiton or chemo</li><li>Genetics: Li-Fraumeni syndrome, retinoblastoma</li><li>Other bone conditions; chronic osteomyelitis</li></ul>
What is Ewing’s sarcoma?
<ul><li>Malignant, small round-cell tumour that primarily involves the bone but can arise n soft tissues</li></ul>
What gene is associated with Ewing’s sarcoma
<ul><li>EWS-GLI1 fusion gene</li></ul>
What is Hodgkin’s lymphoma?
<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>
Name some risk factors for Hodgkin’s lymphoma
<ul><li>EBV</li><li>HIV</li><li>Immunosuppression</li><li>Smoking</li></ul>
What is the role of the von Willebrand factor?
<div><ul><li>Normally promotes platelet adhesion to damaged endothelium</li><li>Stabilises clotting factor 8</li></ul></div>
What are the types of von Willebrand’s disease?
<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>
What conditions are screened for in the neonatal blood spot?
<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 </li></ul>
What investigations might be used in a child with anaemia?
<ul><li>FBC: MCV, Hb, RBC, MCH</li><li>WCC+ platelets-> signs of bone marrow failure</li><li>Reticulocyte count->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>
Name some signs and symptoms of anaemia in children
<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>
What is thalassaemia?
<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>
What are the 2 types of thalassaemia?
<ul><li>Alpha thalassaemia: defect in 4 genes for alpha-globin</li><li>Beta thalassaemia: defect in 2 genes for beta-globin</li></ul>
What is the inheritance of beta thalassaemia?
<ul><li>Autosomal recessive</li></ul>
What is the problem with regular iron transfusions as a tx for beta thalassaemia?
<ul><li>Risk of iron overload toxicity</li><li>Iron builds up in heart, joints, liver and endocrinee glands-> death from cardiac failure</li></ul>
What is sickle cell disease?
<ul><li>Autosomal recessive condition thatresults in synthesis of an abnormal haemoglobin chain: HbS</li></ul>
What investigations might be used in an acute sickle cell crisis?
<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>
What is fanconi anaemia?
<ul><li>Rare autosomal recessive condition that causes bone marrow failure, macrocytic normochromic anaemia and pancytopenia</li></ul>
What is haemophilia?
<ul><li>X linked recessive inherited bleeding disorders</li></ul>
What is the difference between haemophilia A and B?
<ul><li>A: deficiency in clotting factor 8</li><li>B: deficiency in clotting factor 9</li></ul>
What is immune thrombocytopenic purpura?(ITP)
<ul><li>Autoimmune condition characterised by a reduction in circulating platelets. </li></ul>
What is testicular torsion?
<ul><li>Urological emergency characterised by the twisting of testicle around the spermatic cord due to inadequate attachement of tissues within the scrotum-> obstruced blood flow to affected testicle-> testicular necrosis</li></ul>
Name some risk factors for testicular torsion
<ul><li>Bell-Clapper deformity</li><li>Undesended testicle</li><li>Trauma</li><li>Prior intermittent torsion</li><li>Testicular tumour</li></ul>
What is the different between primary and secondary sexual characteristics?
<ul><li>Primary: inborn characteristics present at birth</li><li>Secondary: Develop during puberty</li></ul>
What is precocious puberty?
<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>
What is adrenarche?
<ul><li>First stage of pubic hair development</li></ul>
What causes bilateral testicular enlargement in males with precocious puberty?
<ul><li>Gonadotrophin release from intracranial lesion</li></ul>
What causes unilateral testicular enlargement in males with precocious puberty?
<ul><li>Gonadal tumour</li></ul>
What causes small testes in males with precocious puberty?
<ul><li>Adrenal cause(tumour or adrenal hyperplasia)</li></ul>
What is Kallmann’s syndrome?
<ul><li>Cause of delayed puberty secondary to hypogonadotrophic hypogonadism</li></ul>
What is congenital adrenal hyperplasia?
<ul><li>Group of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects</li></ul>
Name some risk factors for obesity in children
<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>
What is congenital hypothyroidism?
<ul><li>Paediatric endocrine disorder characterised by insufficient production of thyroid hormones at birth-> can cause irreversible cognitive impairment</li></ul>
What is pica?
<ul><li>Craving to eat non-food items >2yrs</li></ul>
What is eczema?
<ul><li>Chronic inflammatory disorder of the skin characterised by dermatitis with resultant spongiotic change in the epidermis </li></ul>
What is eczema herpeticum?
<ul><li>Dermatological emergency-> disseminated HSV in a patient with eczema </li><li>Occurs when a patient is first infected with HSV</li></ul>
What is Stevens-Johnson syndrome?
<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>
What is allergic rhinitis?
<ul><li>Inflammatory condition affecting the nasal mucosa-> becomes sensitized to allergens</li></ul>
What is angio-oedema?
<ul><li>Deeper form of urticaria with swelling in the dermis and submucosal or SC tissue</li></ul>
What is chronic urticaria?
<ul><li>Lasts for >6 weeks</li></ul>
Name some risk factors/triggers for urticaria
<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>
What are birth marks?
<ul><li>Coloured marks ont he skin that are present at birth or soon afterwards</li></ul>
What is anaphylaxis?
<ul><li>Acute and severe type 1 hypersensitivity reaction -severe, life-threatening </li></ul>
Name some triggers for anaphylaxis
<ul><li>Animals: insect stings</li><li>Foods: nuts(mc), shellfish, fish, eggs, milk</li><li>Medications: abx, IV contrast media, NSAIDs</li></ul>
What criteria is used to diagnose rheumatic fever?
<ul><li>Jones criteria</li><li>Evidence of recent strep infection+ 2 major criteria OR 1 major with 2 minor</li></ul>
What are the major criteria for rheumatic fever
<ul><li>Erythema marginatum</li><li>Sydenham's chorea</li><li>Polyarthritis</li><li>Carditis and valvulitis</li><li>SC nodules</li></ul>
What investigations might be done for paediatric heart failure
<ul><li>Oxygen sats(pre-ductal and post-ductal-before/after reaching ductus arteriosus of aorta)</li><li>Bloods: FBC, U&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>
What is infective endocarditis?
<ul><li>Infection of inner surface of heart(endocardium), usually the valves</li></ul>
Name some risk factors for infective endocarditis
<ul><li>Previous episode of endocarditis</li><li>Age >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>
What is the most common cause of infective endocarditis?
<ul><li>S.aureus</li><li>Especially in IVDU</li></ul>
What is the most common causative organism of infective endocarditis in ppatient siwth poor dental hygiene?
<ul><li>Strep viridans</li></ul>
What is the most common causative organism of infective endocarditis in patients with prosthetic valve disease?
<ul><li>Coagulase negative staphylococci: Staph epidermis</li></ul>
What is the most likely casuative organism for infective endocarditis in patients with colorectal cancer?
<ul><li>Strep bovis</li><li>Consider colonoscopy and biopsy in these patients </li></ul>
What are the culture negative causes of infective endocarditis
HACEK organisms<br></br><ul><li>Haemophilus</li><li>Actinobacillus</li><li>Cardiobacterium</li><li>Eikenella</li><li>Kingella</li></ul>
Name some signs of infective endocarditis
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>
What investigations might be used to assess for infective endocarditis
<ul><li>ECG-prolonged PR interval</li><li>Urine dip-> 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>
What abx are used for the treatment of infective endocarditis caused by S aureus?
<ul><li>Flucloxacillin</li><li>Vancomycin and rifampicin</li></ul>
What abx are used for the treatment of infective endocarditis caused by S viridans?
<ul><li>Benxylpenicillin</li><li>Vancomycin and gentamicin</li></ul>
What abx are used for the treatment of infective endocarditis caused by HACEK organisms?
<ul><li>Ceftriaxone</li></ul>
What is congenital heart block
<ul><li>Type of cardiac arrhythmia in which there is complete dissociation between atrial and ventricular contractioins</li></ul>
Name somee differentials for congenital heart block
<ul><li>Bundle branch block</li><li>Vasovagal syncope</li><li>Seizure disorders</li><li>Orthostatic hypotension</li></ul>
What is IBS?
<ul><li>Common, chronic GI disorder characterised by abdo pain/discomfort with altered bowel habits without any identifiable structural/biochemical abnormalities</li></ul>
What investigations might be done in a patient with suspected IBS
<ul><li>FBC, ESR, CRP</li><li>Coeliac screen</li><li>Faecal calprotectin</li></ul>
What is gastroenteritis?
<ul><li>Inflammation of GI tract predominanly involving stomahc and small intestine characterised by diarrhoea and vomiting</li></ul>
Name some viral causes of gastroenteritis
<ul><li>Rotavirus-mc in infants</li><li>Norovirus-mc in all infants</li><li>Adenovirus</li></ul>
What are the key differences between Crohn’s and UC?
<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>
What is Crohn’s disease?
<ul><li>Chronic relapsic remitting inflammatory bowel disease-> transmural granulomatous inflammation which can affect any part of the GI tract</li></ul>
What criteria is used to assess the severity of Ulcerative colitis
<ul><li>Truelove and Witt's criteria</li></ul>
Name some surgical options for Ulcerative colitis patients
<ul><li>Panproctocolectomy with permanent end ileostomy</li><li>Colectomy with temporary end ileostomy(3 mths later can be reversed)</li></ul>
Name some varibale term complications for Ulcerative colitis
<ul><li>Primary sclerosing cholangitis: monitor LFTs yearly</li><li>Inflammatory pseudopolyps</li><li>Increased risk of VTE</li></ul>
What is coeliac disease?
<ul><li>T cell mediated inflammatory AI disease disease that affects the small bowe</li></ul>
Name some signs of coeliac disease in children
<ul><li>Pallor-> anaemia</li><li>Short stature</li><li>Wasted buttocks</li><li>Vitamin deficiency signs like bruising</li><li>Dermatitis herpetiformis</li></ul>
Name some things that might be seen on a jejunal biopsy in a patient with coeliac disease
<ul><li>Villous atrophy</li><li>Crypt hyperplasia</li><li>Increased intraepithelial T-lymphcoytes</li></ul>
Name the causes of malnutrition due to wasting
<ul><li>Wt loss due to poor oral intake/infectious disease</li><li>Organic causes: coeliac, IBD or T1DM</li></ul>
<div><div><div><div><div><div><div><div>Name the causes of malnutrition due to stunting</div></div></div></div></div></div></div></div>
<ul><li>Poor socioeconomic conditioner</li><li>Poor maternal health</li><li>Frequent infections</li><li>Inappropriate feeding</li></ul>
Name the causes of malnutrition due to nutrition deficiencies
<ul><li>Poor diet</li><li>Parasitic infections</li><li>Organic: coeliac and IBD</li></ul>
Name the causes of malnutrition due to overnutrition
<ul><li>Excess energy consumption relative to energy expenditure</li></ul>
What are the 2 forms of protein-energy malnutrition?
<ul><li>Kwashiorkor</li><li>Marasmus</li></ul>
What is kwashiorkor?
<ul><li>Oedema and hepatomegaly due to low protein intake with adequate oral intake </li></ul>
<div><img></img><br></br></div>
What is marasmus?
<ul><li>Significant wasting due to low energy and protein intake</li></ul>
<div><img></img><br></br></div>
What is failure to thrive?
<ul><li>Insufficient weight gian or inappropriate growthin infants and children</li><li>Manifestation of underlying medical and social issues</li></ul>
What is Meckel’s diverticulum?
<ul><li>Congenital diverticulum of the small intestine</li></ul>
<div><img></img><br></br></div>
What is the rule of 2’s Meckel’s diverticulum
<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>
What is the most common cause of painless massive GI bleed in those between 1-2 yrs old
<ul><li>Meckel's diverticulum<br></br></li></ul>
What is infantile colic?
<ul><li>Very common and benign set of symptoms of unknown cause </li></ul>
What age is usually aggected by infantile colic?
<ul><li><3 months old</li></ul>
What is a choledochal cyst?
<ul><li>Swelling/dilatation of the bile ducts</li><li>Usually common bile duct and hepatic ducts, rarely intrahepatic ducts</li></ul>
What is neonatal hepatitis?
<ul><li>Inflammation of live in newborns(1-2 mths post birth)</li></ul>
What is a hernia?
<ul><li>Protrusion of an internal organ through its containing wall(usually abdominal wall)</li></ul>
What are the types of hernias based on status of bowel?
<ul><li>Reducible hernia</li><li>Strangulated hernia</li><li>Incarcerated hernia</li></ul>
Name some risk factors for hernias in children
<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>
