Selected Notes paeds 2 Flashcards
In patients with androgen insensitivity syndrome why don’t female internal organs develop?
Testes produce anti-Mullerian hormone->prevents males from developing upper vagina, uterus, cervix and fallopian tubes
How would hormonal tests look in a patient with androgen insensitivity syndrome?
<ul><li>Raised LH</li><li>Normal/raised FSH</li><li>Normal/raised testosterone (for a male)</li><li>Raised oestrogen(for a male)</li></ul>
How is androgen insensitivity syndrome managed?
<ul><li>Specialist MDT: paeds gynae, urology, endo, psych</li><li>Counselling-generally <b>raised as female</b></li><li>Bilateral orchidectomy(avoid testicular tumours)</li><li>Oestrogen therapy</li><li>Vaginal dilators/surgery to create an adequate vaginal length</li></ul>
Give some examples of learning disabilities
<ul><li>Down's</li><li>ASD and aspergers</li><li>Williams</li><li>Fragile X</li><li>Global developmental delay</li><li>Cerebral palsy</li></ul>
How do children with fragile X present?
<ul><li>Large face</li><li>Large protruding ears</li><li>Intellectual impariment</li><li>Post pubertal macroorchidism</li><li>Social anxiety</li><li>ASD features</li></ul>
Name some differentials for fragile X
<ul><li>ASD(no physical characteristics)</li><li>Down's</li><li>Turner's</li></ul>
How is Fragile X syndrome diagnosed?
<ul><li>Genetics-test number of CGC rpeats in FMR1 gene</li><li>Can also be used to detect carriers</li></ul>
How is Fragile X syndrome treated?
<ol><li>Behavioural therapy->manage social anxiety and ASD features</li><li>SALT for communication</li><li>Educational support</li><li>Medical management for physical complications</li></ol>
Name some differential diagnoses for Kawasaki disease?
<ul><li>Scarlet fever-high fever, strawberry tongue and sandpaper red rash</li><li>Measles</li><li>Drug reactions</li><li>Juvenile rheumaotid arthritis</li><li>Toxic schock syndrome</li></ul>
<b>Kawasaki disease course:</b><br></br>Acute: {{c1::Child most unwell with fever, rash and lymphadenopathy}}<br></br><ul><li>Lasts: {{c1::1-2 weeks}}</li></ul><div>Subacute: {{c2::Acute symptoms settle, demasquation occurs and risk of coronary artery aneurysms forming}}</div><div><ul><li>Lasts: {{c2::2-4 weeks}}</li></ul><div>Convalescent stage: {{c3::Remaining symptoms settle, coronary artery aneurysms may regress}}</div></div><div><ul><li>Lasts: {{c3::2-4 weeks}}</li></ul></div>
How is measles transmitted?
<ul><li>Via droplets from nose, mouth or throat of infected patient</li></ul>
Describe the typical sequence of symptom onset in patients with measles
<ol><li>High fever >40 degrees</li><li>Coryzal symtpoms</li><li>Conjunctivitis</li><li>Koplik spots</li><li>Rash</li></ol>
<br></br>
Name some differential diagnoses for measles
<ul><li>Rubella</li><li>Roseola</li><li>Scarlet fever</li></ul>
How can rubella be differentiated from measles?
<ul><li>Rubella often milder and begins on face then spreads</li></ul>
How long after exposure to measles do symptoms develop?
<ul><li>10-14 days post exposure</li></ul>
Name some complications of measles
<ul><li>Acute otitis media-most common complicaiton</li><li>Pneumonia: most common cause of death</li><li>Encephalitis: typically 1-2 weeks after onset</li></ul>
How is chicken pox spread?
<ul><li>Airborne-direct contact with rasj or breathign in particles form infected person's cough/sneeze</li><li>Can be caught from someone with shingles</li></ul>
How is chicken pox diagnosed?
<ul><li>Clinically</li></ul>
How is rubella transmitted?
<ul><li>Through respiratory droplets</li></ul>
How is rubella diagnosed?
<ul><li>Serology</li><li>rubella-specific IgM or rise in IgG in acute and convalescent serum samples</li></ul>
How is rubella treated?
<ul><li>Supportive: antipyretics and analgesia</li><li>Isolate individuals to prevent spread, escpecially amongst unvaccinated pregnant women</li></ul>
Name some complications of rubella
<ul><li>Arthritis</li><li>Thrombocytopenia</li><li>Encephalitis</li><li>Myocarditis</li></ul>
How does diptheria damag the body?
<ul><li>Diptheria toxin commonly causes a 'diptheric membrane' on tonsils cuased by necrotic mucosal cells</li><li>System distribution can produce necrosis of myocardial, neural and renal tissue</li></ul>
How might a patient with diphtheria present?
<ul><li>Recent visitor to Eastern europe/russia/asia</li><li>Sore throat with 'diphtheric membrane'</li><li>Bulky cervical lymohadenopathy</li><li>Neuritis</li><li>Heart block</li></ul>
How is a patient diagnosed with diphtheria?
<ul><li>Culture of throat swab-Use tellurite or Loeffler's media</li></ul>
How is diphtheria managed?
<ul><li>Intramuscular penicillin</li><li>Diphtheria antitoxin</li></ul>
How can scalded skin syndrome be differentiated from toxic epidermal necrolysis(TEN)?
Scalded skin syndrome: oral mucosa usually unaffected
Name some differential diagnoses for scalded skin syndrome
<ul><li>Toxic Epidermal Necrolysis (TEN): manifests with widespread erythema and necrosis, leading to detachment of the epidermis. It involves mucous membranes, which differentiates it from SSSS</li><li>Pemphigus vulgaris: characterised by flaccid blisters and erosions on the skin and mucous membranes; Nikolsky sign is also positive</li><li>Bullous Impetigo: typically presents with localized bullae filled with pus, often with surrounding erythema and tenderness</li></ul>
How is scalded skin syndrome diagnosed?
<ul><li>Usually clinical</li><li>Biopsy can help deifferentiate from TEN</li><li>Cultures: presence of S aureus</li></ul>
How is scalded skin syndrome treated?<br></br>
<ol><li>IV antibiotics: flucloxacillin-inhibits toxin synthesis</li><li>Supprtoive: fluid replacement and pain management</li><li>Wound care to prevent secondary infections</li></ol>
How does flucloxacillin treat scalded skin syndrome?
<ul><li>Prevents toxin synthesis</li></ul>
How do patients with whooping ocugh present?
<ul><li>Apasmodi coughing with a prolonged duration per episode</li><li>Inspiratory whooping sound</li><li>Rhinorrhoea</li><li>Post-tussive vomiting</li><li>Apnoeas, especially in infants</li></ul>
Name some consequences of persistent coughing in patient with whooping cough
<ul><li>May develop subconjunctival haemorrhages or anoxia leading to syncope or seizures</li></ul>
How do infants with whooping cough often present?
Apnoeas
How is whooping cough managed?
<ul><li>Oral macrolide: clarithromycin, azithromycin etc if cough onset within 21 days</li><li>Notify public health</li><li>Antibiotic prophylaxis to household contacts</li></ul>
How do macroldies help patients with whooping cough?
<ul><li>Don't alter disease course, byt may alleviate symptoms and minimise transmission</li></ul>
Name 4 enteroviruses
<ul><li>Coxsackie A</li><li>Coxsackie B</li><li>Poliovirus</li><li>Echorviruses</li></ul>
How do enteroviruses spread?
<ul><li>Faeco-oral or droplet transmission</li></ul>
How do patients with polio present?
<ul><li>Most commonly asymptomatic</li><li>Minor: flu-like, pain, fever fatigure, headache, vomiting</li><li>Major: Acute flaccid paralysis-> bulbar paralysis</li></ul>
How is polio diagnosed?
<ul><li>Clinical</li><li>Lab: stool, throat swab, CSF analysis</li></ul>
How is polio managed?
<ul><li>No cure</li><li>Supportive: pain relief, ventilation if breathing difficulties etc</li><li>Physio: in cases of paralytic polio</li><li>Preventativbe: vaccination</li></ul>
Name some complications of polio
<ul><li>Paralysis, disability and deformities</li><li>Respiratory issues: from bulbar polio</li><li>Post-polio syndrome: years after initial infection-> muscle weakness, fatigue and pain in previously affected muscles</li></ul>
Name osme viral causes of meningitis
<ul><li>Enteroviruses</li><li>HSV</li><li>HIV</li></ul>
Describe the typical presentation of a child with fifth disease
<ul><li>Prodrome of mild fever, coryza, diarrhoea</li><li>Characteristic bright red rash on cheeks after a few days-can spread to rest of body but rarely involved palms and soles-peaks after a week then fades</li></ul>
How is fifth’s disease spread
Via respiratory route
name some differentials for fifths disease
<ul><li>Rubella: presents with a similar rash, but also includes lymphadenopathy and conjunctivitis</li><li>Scarlet fever: presents with a similar rash, but also includes a sore throat and a 'strawberry' tongue</li><li>Roseola: presents with a high fever followed by a rash, but the rash is typically non-pruritic and pink in colour</li></ul>
How is fifth’s disease diagnosed?
<ul><li>Usually clinical</li><li>Atypical: serological testing for Parvovirus B19</li><li>FBC: low reticuloycte</li></ul>
How is pneumonia manged?
<ul><li>At home: analgesia, rest, fluids etc</li><li>Hospital: IV fluids and oxygen and antibiotics</li></ul>
How is pneumonia in neonates managed?
<ul><li>IV fluids</li><li>Oxygen</li><li>Broad spectrum antibiotics</li></ul>
How is pneumonia in infants managed?
<ul><li>IV fluids</li><li>Oxygen</li><li>Amoxcicillin/co-amoxiclav if severe</li></ul>
How is pneumonia in children aged >5 years managed?
<ul><li>IV fluids</li><li>Oxygen</li><li>Amoxicillin/erythromycin</li></ul>
Name a complication of pneumonia in children
<ul><li>Parapenumonic collapse and empyema</li></ul>
How do patients with asthma typically present?
<ul><li>Episodic wheeze that is persistent most days and night</li><li>Dry cough</li><li>SOB</li><li>Symptoms worse at night and early morning</li><li>Symptoms have trriggers: exercise, pets, dust, cold air, laughing</li><li>Interval symptoms</li></ul>
How would you describe a wheeze to a parent?
<ul><li>Whistling in chest when your child breathes out</li></ul>
Name some respiratory failure red flags
<ul><li>Drowsiness</li><li>Cyanosis</li><li>Laboured breathing</li><li>Lethargy</li><li>Tachycardia</li><li>Use of accessory muscles </li></ul>
Name some important features to assessing a child presenting with a wheeze
<ul><li>Fever</li><li>Weight loss</li><li>Apnoea</li><li>LOC</li><li>CYanosis</li><li>O2</li><li>Hepatomegaly</li><li>Breathing: too breathless to feed, hyperinflation/recession, use of accessory muscles, nasal falring, auscultation/percussion</li><li>Heart rate >160bpm</li><li>Murmur?</li></ul>
Name some causes of a wheeze in children
<ul><li>Asthma</li><li>Bronchiolitis</li><li>Penumonia</li><li>Transient early wheezing</li><li>Non atopic wheezing</li><li>Cardiac failure</li><li>Inhaled foreign body</li><li>Aspiration of feeds</li><li>Cystic fibrosis</li><li>Congenital abnormality of lung, airway and heart</li></ul>
How is moderate acute asthma treated?
<ul><li>SABA via spacer, 2-4 puffs</li><li>Consider oral prednisolone</li><li>Reassure</li></ul>
How long do symptoms of croup typically last?
<ul><li>48 hours to 1 week</li></ul>
Name some complications of croup
<ul><li>Airway obstruction-> trachea intubation</li><li>Otitis media</li><li>Dehydration form decreased fluid intake</li><li>Superinfection resulting in pneumonia</li></ul>
How might a patient with bacterial tracheitis present?
<ul><li>High fever</li><li>Toxic</li><li>Rapidly progressing into airway obstruction and thick airway secretions</li></ul>
How common is bronchiolitis?
<ul><li>Most common serious respiratory infection of infancy</li></ul>
Name some causes of bronchiolitis and which is the most common?
<ul><li>RSV-80% of cases</li><li>Parainfluenza. rhinovirus, adenovirus, mycoplasma pneumoniae</li></ul>
Name some risk factors for bronchiolitis
<ul><li>Breastfeeding for <2 months</li><li>Older siblings at nursery/school</li><li>Smoke exposure</li><li>Chronic lung disease of prematurity</li></ul>
How is bronchiolitis diagnosed?
<ul><li>Most clinical</li><li>Nasopharyngeal aspirate for RSV culture</li><li>CXR</li><li>If severe: blood gas analysis, continurous O2 monitoring</li></ul>
Name a risk factor for developing bronchiolitis obliterans
<ul><li>Lung transplant recipients</li></ul>
If both parents carry the gene for cystic fibrosis, what are the chances the child will have CF?
36895
If both parents carry the gene for cystic fibrosis, what are the chances the child will be a carrier?
36893
If both parents carry the gene for cystic fibrosis, what are the chances the child won’t have CF or be a carrier?
36895
If 1/25 people in UK have CF mutation, what are the cahnces of having a child with CF?
1/2500<br></br><ul><li>1/25 x 1/25 x 1/4</li></ul>
How do neonates with cystic fibrosis typically present?
<ul><li>Meconium ileus due to viscous meconium</li><li>Failure to thrive</li></ul>
How do infants and toddlers with CF typically present?
<ul><li>Salty sweat</li><li>Faltering growth</li><li>Chest infection</li><li>Malabsorption</li></ul>
How do older children with CF present?
<ul><li>Delayed onset of puberty</li><li>Chest infections</li><li>Malabsorption</li></ul>
How is CF diagnosed?
<ul><li>Screening: neonatal blood spot test: high immunoreactive trypsinogen</li><li>Sweat test: high chloride</li><li>Genetic testing</li></ul>
How is CF managed?
<ul><li>Daily chest physio to clear mucus and prevent pneumonia</li><li>Prophylactic antibiotics, bronchodilators and meds to thin secretions </li><li>Regular immunisations-> influenza, penumococcla vaccines</li><li>Pancreatic enzyme replacement(Creon) and fat soluble vitamin supplementation (ADEK)</li><li>Bilateral lung transplant in end stage pulmonary disease</li></ul>
Name some complications of cystic fibrosis
<ul><li>Malabsorption and diabetes due to decreased pancreatic enzyme function</li><li>Liver failure</li><li>Chest infections-> pneumothoraz and life threatening haemoptysis</li></ul>
How does CF cause liver failure?
<ul><li>Mucus blocks bile ducts-> bile can't leave liver</li></ul>
How common is acute epiglottitis?
<ul><li>Rare now due to HiB vaccine</li></ul>
How do patients with acute epiglottitis present?
<ul><li>Rapid onset and increase in respiratory difficulties</li><li>High fever, generally very unwell/toxic</li><li>Minimal.absent cough</li><li>Soft inspiratory stridor</li><li>Intesne throat pain</li><li>DROOLING</li><li>TRIPOD POSITION-> leant forward, extending neck, open mouth</li></ul>
Name some differentials for acute epiglottitis
<ul><li>Croup</li><li>Peritonsillar abscess</li><li>Bacterial tracheitis</li><li><br></br></li></ul>
How do patients with a viral induced wheeze present?
<ul><li>Viral illness for 1-2 days preceding onset</li><li>SOB</li><li>Signs of respiraotry distress</li><li>Expiratory wheeze throughout the chest</li></ul>
How is multiple trigger wheeze treated?
<ul><li>Trial ICS/LTRA for 4-8 weeks</li></ul>
How do patients with otitis media typically present?
<ul><li>Otalgia(ear pain)</li><li>Fever</li><li>Hearing loss</li><li>Recent URTI symptoms</li><li>Discharge</li></ul>
Name some differential diagnoses for otitis media?
<ul><li>URTI</li><li>Mastoiditis</li><li>Otitis externa</li><li>Foreign body</li></ul>
How is otitis media managed?
<ul><li>Self-resolving: usually no antibiotics needed, simple analgesia</li><li>If no improvement after 3 days: can start antibiotics</li><li>In severe cases admit to hospital and antibiotics</li></ul>
Name some complications of otitis media
<ul><li>Chronic OM</li><li>Tympanic membrane perforation</li><li>Meningitis</li><li>Mastoidits</li><li>Facial nerve palsy</li><li>Labyrinthitis</li></ul>
How can otitis media be prevented?
<ul><li>Avoid passive smoking</li><li>Avoid flat/supine feeding</li><li><br></br></li></ul>
How do patients with glue ear typically present?
<ul><li>Hearing loss in affected ear</li></ul>
How is glue ear diagnosed?
<ul><li>Otoscopy-> dull tympanic membrane with air bubbles or visible fluid level(can look normal), retracted eardrum</li></ul>
Name some of the risk factors for periorbital cellulitis
<ul><li>Male</li><li>Previous sinus infection</li><li>Recent eyelid injury</li></ul>
How do patients with periorbital cellulitis present?
<ul><li>Acute onset of red, swollen, painful eye, fever</li><li>Eryhtema and oedema of eyelids-> can spread to surrounding skin</li><li>Partial.complete ptosis of eye due to swelling</li><li>Orbital signs ABSENT(no pain/restriction on movement, proptosis, chemosis etc)</li></ul>
Name some differentials for periorbital cellulitis
<ul><li>Orbital cellulitis</li><li>Allergic reactions</li></ul>
How is periorbital cellulitis managed?
<ul><li>Referral to secondary care assessment</li><li>Oral antibiotics usually enough-> empirical co-amoxiclav/cefotaxime</li><li>May require admission for observation</li></ul>
Name some causes of a squint
<ul><li>Idiopathic-most common</li><li>Hydrocephalus</li><li>Cerebral palsy</li><li>Space occupying lesion(retinoblastoma)</li><li>Trauma</li></ul>
Name some differential diagnoses for impetigo?
<ul><li>Eczema herpeticum</li><li>HSV infection</li><li>Contact dermatitis</li><li>Ringworm</li></ul>
How is impetigo diagnosed?
<ul><li>Usually clinically</li><li>Skin swab for mc+s in certain cases like recurrent infections or treatment resistant cases</li></ul>
Name some complications of impetigo
<ul><li>Sepsis</li><li>Glomerulonephritis</li><li>Deeper soft tissue infection-cellulitis</li><li>Scarring</li><li>Post strep glomerulonephritis</li><li>Scarlet fever</li><li>Staphyloccocus scalded skin syndrome</li></ul>
Name some differentials for toxic shock syndrome
<ul><li>Meningococcal scepticaemia</li><li>Stevens-Johnson syndrome</li><li>Kawasaki disease</li></ul>
How is suspected toxic shock syndrome investigated?
<ul><li>Sepsis 6</li><li>Throat/wound swabs</li></ul>
How is scarlet fever spread?
<ul><li>Via respiratory route-> inhaling or ingesting droplets or direct contact with nose and throat discharge</li></ul>
How is scarlet fever diagnosed?
<ul><li>Throat swab</li><li>DONT wait for results to start anitbiotic treatment</li></ul>
Describe the treament of scarlet fever
<ul><li>Oral phenoxymethylpenicillin for 10 days</li><li>Azithromycin for penicillin allergy</li><li>notifiable disease-report to public health</li><li>Keep off school</li></ul>
How long do patients with scarlet fever need to stay off school?
<ul><li>Until 24 hours after commencing antibiotics</li></ul>
Name some complications of scarlet fever
<ul><li>Rheumatic fever</li><li>Post strep glomerulonephritis</li><li>Otitis media-most common</li><li>Invasive complications-meningitis, bactaraemia etc</li></ul>
How does the ductus venosus close?
Immediately after birth-> umbilical cord clamped and no blood flow-> closes and becomes ligamentim venosum
How does the ductus arteriosus close?
<ul><li>Prostalgandins usually keep it open</li><li>Increased blood oxygenation-> drop in circulating prostaglandins->closes</li><li>Becomes ligamentum arteriosum</li></ul>
How does the foramen ovale close?
<ul><li>First breath->alveoli expand-> decrease pulmonary resistance in right atrium</li><li>Left atrial pressure>right atrial pressure-> squashes septum and closes</li><li>Sealed shut after a few weeks-> fossa ovalis</li></ul>
Name some differentials for an ejection-systolic murmur
<ul><li>Aortic stenosis</li><li>Pulmonary stenosis</li><li>Hypertrophic obstructive cardiomyopathy</li></ul>
Name some causes/risk factors for a patent ductus arteriosus(PDA)
<ul><li>Genetics/related to rubella</li><li>Prematurity</li></ul>
How might a patent ductus arterious present in a newborn?
<ul><li>Incidentally in neworn exam with murmur</li><li>SOB</li><li>Difficulty feeding</li><li>Poor weight gain</li><li>Lower respiratory tract infections</li></ul>
In patients with a PDA that don;t present in childhood, how might they present in adulthood?
<ul><li>With heart failure later in life</li></ul>
How is a PDA diagnosed?
<ul><li>Echo</li><li>Left to right shunt</li><li>Hypertrophy of right, left or both ventricles</li></ul>
How are patients with PDA;s managed?
<ul><li>Usualy close by themselves, no treatment if no symptoms</li><li>Medical: NSAIDs</li><li>Monitored with echos until 1 year</li><li>Symptomatic or severe or after 1 year if hasn't closed spontaneously-> trans-catheter or surgical closure</li></ul>
How do NSAIDS work to treat PDA’s?
Inhibit prostaglandin synthesis (helps maintain ductal patency)
How might a patient with an atrial septal defect present?
Childhood:<br></br><ul><li>SOB</li><li>Difficulty feeding</li><li>Poor weight gain</li><li>Lower respiratory tract infections</li><li>Asymptomatic-> antenatal scans</li></ul><div>Adulthood:</div><div><ul><li>Dsypnoea</li><li>Heart failure</li><li>Stroke</li></ul></div>
How are atrial septal defects managed
<ul><li>Small: watch and wait</li><li>Surgery: transvenous catheter closure or open heart surgery</li><li>Medical: anticoagulatns like aspiring, warfirin and NOACs</li></ul>
How are patients with critical coarctation of the aorta managed at birth?
<ul><li>Prostaglandin E used to keep ductus arteriosus open while waiting for surgery</li><li>Surgery to correct coarctation and ligate ductus arteriosus</li></ul>
How are VSDs diagnosed?
<ul><li>Typically through antenatal scans or newborn baby check</li><li>Can be asymptomatic and present later in life </li></ul>
How are VSD’s managed?
<ul><li>Small and asx: watch and wait, may close spontaneously</li><li>Surgically: transvenous catheter closure via femoral vein or open heart surgery</li></ul>
How does the VSD contribute to the tetralogy of fallot?
<ul><li>Blood can flow between ventricles</li></ul>
How does the overriding aorta contribute to tetralogy of fallot?
<ul><li>When right ventricle contracts, aorta is in direction of travel of that blood, greated proportion of deoxygentated blood enters aorta</li></ul>
How does stenosis of the pulmonary valve contribute to tetralogy of fallot?
<ul><li>Greater resistance against flow of blood form right ventricle</li><li>Blood flows through VSD and into aorta instead of pulmonary vessels</li><li>Due ot overriding aorta and pulmoanry stenossi-> blood is shunted from right to left-> cyanosis</li></ul>
How can positional changes improve circulation in tet spells?
<ul><li>Older children: squat</li><li>Younger children: Bring knees to chest</li><li>Increases systemic vascular resistance so encourages blood to enter pulmonary vessels</li></ul>
How is tetralogy of fallot managed in neonates?
<ul><li>Prostaglandin infusion to maintain ductus arteriosus: allows blood to flow from aorta back to pulmonary arteries</li><li>Total surgical repair-mortality around 5%</li></ul>
How does sodium bicarbonate help treat a tet spell?
<ul><li>Buffers any metbaolic acidosis</li></ul>
Describe the symptoms of transposition of the great arteries
<ul><li>Cyanosis at/shortly after birth</li><li>Tachypnoea</li><li>Poor feeding/weight gain</li></ul>
How is transposition of the great arteries diagnosed?
<ul><li>Fetal US-most are picked up antenatally</li><li>Echo</li><li>CXR-egg on side</li></ul>
Describe the treatment of transposition of the great arteries
<ul><li>Prostaglandin E infusion-maintain ductus arteriosus</li><li>Balloon septostomy</li><li>Definitive: open heart surgery using bypass-arterial switch</li></ul>
How is Ebstein’s anomaly treated?
<ul><li>Treat arrhythmias and heart failure</li><li>Prophylactic antibiotics to prevent infective endocarditis</li><li>Surgical correction: definitive</li></ul>
How is congenital aortic valve stenosis diagnosed and monitored?
<ul><li>Echo: GS</li><li>Monitoring: echo, ECG, exercise testing</li></ul>
Desrcibe the treatment for congenital aortic valve stenosis
<ul><li>Percutaneous balloon aortic valvoplasty</li><li>Surgical aortic valvotomy</li><li>Valve replacement</li></ul>
Name some complications that can aride from congenital aortic valve stenosis
<ul><li>Left ventricular outflow tract obstruction</li><li>Heart failure</li><li>Ventricular arrhythmia</li><li>Bacterial endocarditis</li><li>Sudden death-on exertion</li></ul>
How is congenital pulmonary valve stenosis diagnosed?
<ul><li>Echo</li></ul>
Name some possible causes of nocturnal enuresis
<ul><li>Daibetes-> excessive urination</li><li>UTI's-> urgency/frequency</li><li>Constipation-> compressess bladder</li></ul>
How can haemolytic uraemic syndrome be classified?
<ol><li>Secondary/typical</li><li>Primary/atypical</li></ol>
Name a differential diagnosis for haemolytic uraemic syndrome and explain how they can be dfferentiated?
<ul><li>Thrombotic thrombocytopenic purpura(TTP)</li><li>TTP will include symptoms of fever and neurological changes</li></ul>
How is typical haemolytic anaemia managed?
<ul><li>Supportive-> fluids, blood transfusions and dialysis if needed</li><li>NO antibiotics</li></ul>
How is atypical haemolytic uraemic syndrome managed?
<ul><li>Referral to specialist</li><li>Treatment with eculizumab(monoclonal antibody)</li><li>Plasma exchange may be used in severe cases with no diarrhoea</li><li>NO antibiotics</li></ul>
How does eculizumab treat haemolytic uraemic syndrome?
Monoclonal antibody-> inhibits the terminal complement pathway
How should urine samples be collected in children with a suspected UTI?
<ul><li>Clean catch</li><li>Non contaminated collection pad/catheter sample/suprapubic aspiration</li></ul>
Name some complications of a UTI
<ul><li>Renal scarring and CKD</li><li>Sepsis</li></ul>
How does vesicoureteric reflux result in recurrent UTI’s?
<ul><li>Backwards flow carries bacteria up to the kidneys</li></ul>
Give 3 causes of a vesicoureteric reflux
<ul><li>Shortened intravesical ureter</li><li>Impoperly functioning valve where ureter joins bladder</li><li>Neurological disorder affecting the bladder</li></ul>
Name some complicaiton of vesicoureteric reflux
<ul><li>Recurrent UTI's</li><li>Pyelonephritis</li><li>Renal scarring and UTI's</li><li>Hypertension</li></ul>
<b>Grading of </b>vesicoureteric reflux<br></br>Grade 1: {{c1::Incomplete filling of upper urinary tract without dilatation}}<br></br>Grade 2: {{c2::Complete filling +/- slight dilatation}}<br></br>Grade 3: {{c3::Ballooned calyces}}<br></br>Grade 4: {{c4::Megaureter}}<br></br>Grade 5: +{{c5::hydronephrosis}}
Name some conditions Wilms’ tumour is associated with
<ul><li>Beckwith-Wiedemann syndrome</li><li>WAGR syndrome(Wilms', aniridia, GU anomalies, mental retardation)</li><li>Denys-Drash syndrome: WT1 gene on CH 11</li></ul>
Name some differential diagnoses for a Wilms’ tumour
<ul><li>Neuroblastoma</li><li>Mesoblastic nephroma</li><li>Renal cell carcinoma-> rare in children</li></ul>
Name one poor prognostic factor in a patients with Wilms’ tumour
<ul><li>Associations with other genetic conditions</li></ul>
Name some risk factors for cryptorchidism
<ul><li>Family history</li><li>Small for gestational age</li><li>Prematurity</li><li>Low brith weight</li><li>Maternal smoking in pregnancy</li></ul>
Name some conditions associated with cryptorchidism
<ul><li>Cerebral palsy</li><li>Wilms' tumour</li><li>Abdominal wall defects</li></ul>
How is cryptorchidism diagnosed?
<ul><li>Cinical-physical exam in a supine position</li></ul>
How might a patient with cryptorchidism present?
<ul><li>Malpositioned/absent testes/testis</li><li>Palpable cryptorchid testis(unable to be pulled into scrotum/returns to higher position after pulling)</li><li>Non-palpable testis</li><li>Testicular asymmetry/scrotal hyperplasia</li></ul>
Name some differential diagnoses for cryptorchidism
<ul><li>Rretractile testis</li><li>Intersex conditions</li></ul>
How would a teenager presenting with cryptorchidism be managed?
<ul><li>Orchidectomy</li><li>Due to a higher risk of malignancy-Sertoli cells degrade after 2 years</li></ul>
Name some complications of hypospadias
<ul><li>Difficulty directing urination</li><li>Cosmetic and psychological reasons</li><li>Sexual dysfunction</li></ul>
Name some complications of phimosis/paraphimosis
<ul><li>Recurrent balanoposthitis/UTI's</li><li>Venous congestion, oedema and ischaemia of glans penis</li></ul>
Name some primary causes of nephrotic syndrome
<ol><li>Minimal change disease</li><li>Focal segmental glomerulonephropathy</li><li>Membranous nephropathy</li></ol>
How does nephrotic syndrome result in an increased risk of thrombosis?
<ul><li>Decreased antithrombin 3, proteins c+s and increase in fibrinogen</li></ul>
How doe nephrotic syndrome result in lower thyroxine?
<ul><li>Decreased thyroxine binding globulin-> lowers total(not free) thyroxine</li></ul>
Name some complications of nephrotic syndrome
<ul><li>Hypovolaemia->oedema and hypotension</li><li>Thrombosis-> kiedney leak clotting factors</li><li>Infection-> kidenys leak Ig's and steroid use</li><li>Acute/renal failure</li></ul>
Name 2 drugs that can cause minimal change disease
<ul><li>NSAIDs</li><li>Rifampicin</li></ul>
Name some causes of nephritic syndrome
<ul><li>AI: SLE oe Henoch Schonlein purpura</li><li>Infections: post strep</li><li>Goodpasture's disease</li><li>IgA nephropathy(Berger's)</li><li>Rapidly progressing glomerulonephrotos</li><li>Membranoproliferative glomerulonpehritis</li></ul>
Describe the typical presentation of a patient with IgA nephropathy
<ul><li>Gross/microscopic haematuria occuring 12-72 hours after an URTI or GI infection</li><li>Mild proteinuria</li><li>Hypertension</li></ul>
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Name some differential diagnoses for IgA nephropathy
Post strep glomerulonephritis(weeks post infection not days, IgA deposition)<br></br>Henoch Schonlein purpura-> same excpet systemic IgA complex deposition instead of just kidneys<br></br>
Name some markers of good prognosis and poorer prognosis of patient with IgA nephropathy
Good: frank haematuria<br></br>Poor: male, proteinuria, hypertension, smoking, hyperlipidaemia
Name some differential diagnoses for post strep glomerulonephritis
<ul><li>IgA nephropathy</li></ul>
Name a complication of post strep glomerulonephritis
<ul><li>CKD</li><li>Rapidly progressing glomerulonephritis</li></ul>
Goodpastures disease: symptoms, cause,and treatment
Symptoms: pulmonary and alveoli haemorrhage<br></br>Cause: Anti-GBM antibody deposition<br></br>Treatment: Steroids and plasma exchange
Name some causes of rapidly progressinve glomerulonephritis
<ul><li>Goodpasture's</li><li>IgA nephropathy</li><li>Henoch Schonlein Purpura</li><li>Lupus nephritis</li><li>Wegener's granulomatosis</li></ul>
Describe the treatment of rapidly progressive GN
<ul><li>Corticosteroids and cyclophosphamide-> induce remission</li><li>Plasmapharesis-> anti GBM disease and severe ANCA associated vasculitis</li><li>Supportive: BP control, diet changes, manage fluid overload/electrolyte imbalances</li><li>Renal replacement therapy may be required</li></ul>
How can hypogonadism be classified?
<ul><li>Primary: testicular failure</li><li>Secondary: hypothalamci or pituitary disorders</li></ul>
Give some examples of primary hypogonadism
<ul><li>Klinefelter syndrome</li><li>Orchitis</li><li>Testicular trauma/torsion</li><li>Chemo/radioation</li></ul>
Give some examples of secondary hypogonadism
<ul><li>Kallmannm syndrome</li><li>Pituitary adenomas</li><li>Hyperprolactinoma</li><li>Anorexia</li><li>Opioid use</li><li>Glucocorticoid use</li><li>HIV/AIDS</li><li>Haemochromatosis</li></ul>
Name some differential diagnoses for hypogonadism
<ul><li>Depression</li><li>Thryoid disorders</li><li>CFS</li></ul>
How might hormone levels seem different in those with Klinefelter syndrome?
<ul><li>Elevated gonadotrophin levels(FSH, LH etc)</li><li>Low testosterone</li></ul>
How is Klinefelter diagnosed?
<ul><li>Karyotyping-chromosomal analysis</li><li>Hormones will also show high gonadotrophin levels and low testosterone</li></ul>
Describe the treatment of Klinefelter syndrome
<ul><li>Testosterone injections-improve many symptoms</li><li>Advanced IVF techniques-> fertility options</li><li>Breast reduction for cosemsis</li><li>MDT input: SALT, OT, physio, educational support</li></ul>
How is Turner’s syndrome diagnosed?
<ul><li>Pre-natally: amniocentesis or chorionic villus sampling(CVS)</li><li>Definitive: karyotyping after birth</li></ul>
Give some features of Down’s syndrome that aren’t on the face
<ul><li>Hypotonia</li><li>Pronounced sandal gap</li><li>Learning difficulties</li><li>Short stature</li><li>Congenital heart defects</li><li>duodenal atresia</li><li>Hirschsprung's disease</li></ul>
Name some cardiac complications of Down’s sydnrome
<ul><li>Endocardial cushion defect</li><li>VSD(30%)</li><li>Secundum atrial septul defect</li><li>Tetralogy of fallot</li><li>Isolated PDA</li></ul>
Name some later complications of Down’s syndrome
<ul><li>Subfertility</li><li>Learning difficultires</li><li>ALL</li><li>Alzheimer's</li><li>Repeated respiratory infections</li><li>Antlantoaxial instability-avoid trampolines</li><li>Hypothyroidism</li><li>Visual problems: myopia, strabismus, cataracts</li></ul>
How can Down’s syndrome be diagnosed?
<ul><li>Antenatal screening: between 10-14 weeks</li><li>Combined test: 10-14 weeks: US and maternal bloods</li><li>Triple test: 14-20 weeks: maternal blood tests</li><li>Quadruple test: 14-20 weeks</li></ul>
Give some examples of muscular dystrophies
<ul><li>Duchenne muscular dystrophy</li><li>Beckers muscular dystrophy</li><li>Myotonic musclar dystrophy</li></ul>
If a mother is a carrier for Duchenne muscular dystrophy and has a child, what it the likelihood that the child will be a carrier or have the condition?
If female: 50% chance of being a carrier<br></br>If male: 50% chance of haviing condiiton
How is Duchenne muscular dystrophy managed?
<ul><li>Mostly supportive</li><li>Oral steroids can slow the progression of muscle weakness</li><li>Creatine supplementation can slightly improve muscle stength</li></ul>
How is Becker’s muscular dystrophy different to duchenne muscular dystrophy?
<ul><li>Dystrophiin gene less severely affected and maintains some function, symptoms appear later(8-12 years), some patients need wheelchairs in late 20s/30s, others can walk into adulthood</li></ul>
How is William’s syndrome diagnosed?
<ul><li>FISH studies(fluorescence in situ hybridization)</li></ul>
Desrcibe the epidemiology of rickets
<ul><li>More common in regions of asia and africa</li><li>Asia: lack of sunlight and low vegetable and meat diets</li><li>Africa: darker skin pigmentatino and reduced vitamin D synthesis</li></ul>
Name some predisposing features to rickets
<ul><li>Dietary deficiency of calcium, e.g. in developing countries</li><li>Prolonged breastfeeding</li><li>Unsupplemented cow's milk formula</li><li>Lack of sunlight</li></ul>
Name some differential diagnoses for transient synovitis
<ul><li>Septic arthritis</li><li>Ostemyelitis</li></ul>
How is transient synovitis diagnosed?
<ul><li>Often clinical diagnosis</li><li>Normal basic observations</li><li>Normal blood tests with no raised WCC or inflammatory markers</li><li>USS: may show effusion, X-ray normal</li><li>Joint aspirate: if done should be no bacteria present</li></ul>
How cam mosteomyelitis be classified?
<ul><li>Haematogenous spread: commonly occurs in children, spreads from elsewhere(bactaraemia)</li><li>Non-haematogneous spread: spreads from adjacent soft tissues/from firect injury/trauma to bone</li></ul>
Name some risk factors for haematogenous osteomyelitis
<ul><li>Sickle cell anaemia</li><li>IVDU</li><li>Immunosuppresion</li><li>Infective endocarditis</li></ul>
Name some differentials for osteomyelitis
<ul><li>Septic arthritis</li><li>Ewing sarcoma</li><li>Cellulitis</li><li>Gout</li></ul>
Name some risk factors for developing septic arthritis?
<ul><li>Pre-existing joint diseases like rheumatoid arthritis</li><li>CKD</li><li>Immunosuppresive states</li><li>Prosthetic joints</li></ul>
Name some complications of septic arthritis
<ul><li>Osteomyelitis</li><li>Chronic arthritis</li><li>Ankylosis</li></ul>
Name some differential diagnoses fro Perthes’ disease
<ul><li>Transient synovitis</li><li>Septic arthritis</li><li>SUFE</li><li>JIA</li></ul>
