General things Flashcards
causes of cyanotic heart disease?
- ventricular septal defects (VSD) - most common, accounts for 30%
* atrial septal defect (ASD)
* patent ductus arteriosus (PDA)
* coarctation of the aorta
* aortic valve stenosis
causes of cyanotic heart disease?
i. Tetralogy of Fallot
ii. Transposition of the great arteries
iii. Tricuspid atresia
what conditions cause snoring in children?
a. Obesity
b. Nasal problems: polyps, deviated septum, hypertrophic nasal turbinates
c. Recurrent tonsilitis
d. Down’s syndrome
e. Hypothyroidism
what are the features of fetal alcohol syndrome?
- short palpebral fissure
* thin vermillion border/hypoplastic upper lip
* smooth/absent filtrum
* learning difficulties
* microcephaly
* growth retardation
* epicanthic folds
* cardiac malformations
what is used to treat CF patients who are homozygous for the delta F508 mutation?
lumacaftor and Ivacaftor
how does lumacaftor work?
increases the number of CFTR proteins that are transported to the cell surface
how does ivacaftor work?
potentiator of CFTR that is already at the cell surface, increasing the probability that the defective channel will be open and allow chloride ions to pass through the channel pore
causes of neonatal hypotonia?
neonatal sepsis
Werdnig-Hoffman disease (spinal muscular atrophy type 1)
hypothyroidism
Prader-Willi
Maternal causes
maternal drugs e.g. benzodiazepines
maternal myasthenia gravis
what is commonest cause of respiratory distress in the newborn period?
Transient tachypnoea of the newborn
caused by delayed resorption of fluid in the lungs
more common following C-sections
what does the chest X-ray of TTN show?
hyperinflation of the lungs and fluid in the horizontal fissure
what is the management of TTN?
Supplementary oxygen may be required to maintain oxygen saturations. Transient tachypnoea of the newborn usually settles within 1-2 days
pyloric stenosis ABG?
hypochloremic, hypokalemic metabolic alkalosis
