Paediatrics Flashcards
Normal neonatal heart rate range
100-160
Fragile X Syndrome- name: The mode of inheritance The name of the gene The type of mutation The type of diagnostic test
X-linked dominant FMR1 gene CGG triplet repeat Polymerase Chain Reaction PCR
Which grades of vesicoteric reflux require prophylactic antibiotics?
III to V
Grade I into the ureter only
Grade II into ureter + renal pelvis without distension
Grade III mild hydronephrosis
Grade IV moderate hydronephrosis
Grade V severe hydronephrosis + a twisted ureter
The only risk factor for 47XXY
This is Klinefelter’s and it’s maternal age
What is the mode of inheritance of Duchenne Muscular Dystrophy?
X-linked recessive
Complications of measles
- Pneumonia
- Diarrhoea
- Encephalitis
- Subacute sclerosing panencephalitis
- Bacterial superinfection due to immune suppression
Name the disorder: low grade fever, arthralgia, + colicky abdominal pain. Then rash starting as pink maculopapules, progressing to petechiae or purpora, going from red to brown then fading. Arthritis involving the knees and ankles is present in 2/3.
Immunoglobulin A vasculitis (Henoch-Schonlein Purpura)
Presenting features of congenital hypothyroidism
Prolonged jaundice Feeding problems Lethargy Constipation Umbilical hernia Macroglossia Large fontanelles Puffy face
When to do a renal ultrasound for a UTI
- 1st febrile UTI and <2yo
- Any age with recurrent febrile UTIs
- Children with a UTI who have a strong family hx of renal/bladder issues or HTN
- Children who don’t respond to Abx treatment
Common chest pathogens in cystic fibrosis
Staph aureus
Haem influenza
Pseudomonas (esp in older pts)
Burkholderia cepacia is awful + assoc w multiple drug resistance
A serum test for Celiac disease with 90% sensitivity + specificity
Serum anti-tTG antibody Do IgA level as well to avoid a false positive in those with a specific deficiency
Phenylketonuria: mode of inheritance and affected gene
Autosomal recessive inherited disorder caused by the mutation of phenylalanine hydroxylase(PAH) gene
The gold standard diagnostic test for 22q11 microdeletion syndrome
DiGeorge Fluorescent insitu hybridization (FISH)
The drug of choice for epiglottitis
Ceftriaxone
Tetanus management
Rx: Supportive care, abx and tetanus IVIg
Most common cause of leukocoria in babies
Congenital cataracts
Prenatal exposure to which pathogen is associated with type 1 DM?
Rubella Note that this is not the case with rubella exposure after birth
The diagnostic test of choice for hypertrophic pyloric stenosis
Abdominal ultrasound, 90% sensitivity
CSF signs of meningeal inflammation- bacterial
- Increased pleocytosis
- High protein
- Low glucose
Hand, foot and mouth disease is caused by what?
Coxsackie A16
The treatment of choice for absence seizures
Ethosuximide (or valproic acid)
Colic: the rule of 3s
>3 hours a day of crying (usually in evening), >3 days a week for > 3weeks
Name a pathology associated with breath holding attacks in infants
Iron deficiency anaemia Do a CBC + ferritin
The most common cause of meningitis in infants, children and adults + The name of the vaccine for it + The antibiotic regime of choice
Streptococcus pneumoniae 13-valent pneumococcal conjugate vaccine (PCV13) Ceftriaxone + vancomycin






















