Clinical 5 (long case bits and bobs) Flashcards
Cystic Fibrosis plan:
Team approach - including GP
Hope - life expectancy steadily improving, novel therapies (lumacaftor/ivacaftor or tezacaftor/ivacaftor for delf508, ivacaftor alone for other mutations)
Educational status - need information from reliable sources
Compliance/prevent and screen for Complications: diabetes, reflex, Cor pulmonale, pneumothorax, bronchiectasis, asthma, intestinal obstruction, arthritis, osteoporosis, jaundice, nasal polyps and sinusitis
Family and sibling
Emotional status
Prognosis (life limiting disorder)
Long term infections and resistance
Asospermia with delayed puberty (males infertile)
Nutrition - often have growth failure and vit def (DEKA)
Adolescent vegan diet risk of deficiency in…
B12
Anorexia part of brain affected
Insula
GMFCS
1: mobilise no limits (stairs)
2: mobilise limits (stairs with rail)
3: sit and mobilise with device
4: sit need wheelchair (power chair)
5: severe, no independent mobility (truncal instability)
Drugs that have weight loss side effects:
Stimulants (methylphenidate, dexamphetamine)
SSRI
Topiramate
Tic disorder treatment:
Clonidine
Risperidone
Strongest predictors of outcome in autism
Language level and IQ
Examine for complications of inflammatory bowel disease:
Ocular changes/signs of anaemia Clubbing Liver disease e.g cirrhosis/sclerosing cholangitis Gallstones and renal stones Arthritis Skin manifestations
Complications of treatment: mega colon, bleed or perforation, cancer, scarring from operation
Kearns-Sayre syndrome:
Kearns-Sayre syndrome: onset<20 years
Chronic, progressive, external ophthalmoplegia, Pigmentary degeneration of the retina
Cardiac problems
Think of atlantoaxial subluxation if:
Down syndrome (20%)
Morquio syndrome (lysosomal storage disorder)
Spondyloepiphyseal dysplasia
Osteogenesis imperfecta
Marfan disease
Neurofibromatosis type 1 (NF1)
Arthritis - RA/JIA, psoriatic, reiter syndrome (reactive arthritis), ank spond
Systemic lupus erythematosus (SLE)
Trauma
Retropharyngeal abscess / Grisel syndrome
Achondroplasia
CF complications:
Psychological Nasal polyps Respiratory infections and bronchiectasis Pancreatic failure and diabetes Bowel obstruction Liver (focal biliary) Reproductive fertility issues Pubertal delay Bone health (osteoporosis) Electrolyte imbalance
L lateral chest wall scar
Coarctation repair PDA ligation BT shunt PA banding Thoracotomy
Complications of Noonan:
Eightfold increased risk of developing leukemia or other cancers over age-matched peers. Bleeding tendency Pubertal delay Short AD
Spina bifida associations:
Hydrocephalus or Arnold-Chiari II malformations (90%)