HD2 Revision8 Flashcards
What weight loss at any stage is a concern and needs assessment? [1]
10%
When do you measure neonatal weight in first year of life? [4]
8, 12 and 16 weeks and 1 year
(same time as immunisations)
What drop in weight (in centiles) would need further assessment of a growth chart? [1]
2 or more centiles
What is important to remember for normal rate of weight gain and growth throughout first year? [2]
Weight often does not follow a particular centile especially in 1st year
Usually tracks within one centile space (gap between 2 centile lines)
What is the first line treatment for osteoporosis? [1]
Bisphosphonates are the first-line treatment for osteoporosis. They work by interfering with osteoclasts and reducing their activity, preventing the reabsorption of bone. There are a few key side effects to remember:
How do you go about evaluating a child with short stature? [4]
Height centile vs weight centile
* Failure to thrive or failure to grow
* Compare height vs weight
When it started
* In utero (IUGR. achondroplasia)
* In infancy
* In childhood
* In puberty
Body proportions
* Primary or secondary growth disorders
Presenting signs
* Idiopathic Short Stature (ISS) or a specific diagnosis (e.g. genetic condition / GH deficiency / sex steroids?)
Evaulation of short stature:
After conducting initial 4 steps, what would you investigate? [1]
If growth is proproptionate or disproportionate
Which conditions would create disproportionate short stature? [4]
- Achondroplasia – have shorter secondary limbs which make disproportionate growth
- Hypochondroplasia
- Leri-Weill dyschonrosteosis (LWD)
- Rickets
Evaulation of short stature:
What would you do after investigating if child has proprotional / dissproportional growth? [2]
Calculate Standard Deviaton score:
* Mean would be score of 0
* Below mean: - score
* Above mean: +score
and
Skeletal survey
* Skull
* Spine
* Pelvis
* Upper limb
* Lower limb
Describe the physiopathology of Leri-Weill dyschonrosteosis (LWD):
- Inheritance pattern? [1]
- Mutation to which gene? [1]
- How do LWD individuals present? [4]
Leri-Weill dyschonrosteosis (LWD):
Autosomal dominant skeletal dysplasia
Short stature homebox gene (SHOX) - found on pseudoautosomal region of X & Y genes
Presentation:
- mesomelic (mid parts) limb shortening
- Bowing of radius
- dorsal dislocation of ulna
- Premature epiphyseal fusion
Describe the madelung deformity of the forearm in LWD [3]
Madelung deformity is characterized by the bowing and shortening of the bones in the forearms (the radius and the ulna) and the dislocation of the ulna, resulting in the abnormal deviation or misalignment of the wrist.
Name two other pathologes that madelung deformity of the forearm is seen in (apart from LWD) [2]
Turners Syndrome
Idiopathic short stature
Which systemic disorders could cause proportionate short stature? [3]
GI Diseases (Coealiac Disease / Lactose intolerance)
Chronic renal diseases
Idiopathic short stature
How do you treat idiopathic short stature? [1]
Growth Hormone - will increase overall height
(but expensive)
Name a treatment for Turner Syndrome growth deficieny [1]
Oxandrolone
What endocrine disorders might you think about for proprionate short stature? [2]
Hypothyroidism
Hypercortisolism
When does wheeze occur: Inspiratory or Expiratory?
When does croup occur: : Inspiratory or Expiratory?
When does wheeze occur: Expiratory
When does croup occur: : Inspiratory
What is difference between pre-school wheeze and pre-school asthma? [2]
Different pathophysiology
Pre-school wheeze: most do not have allergic asthma - more likely to be an exaggerated response to to virus &/ or because airways are not anchored down. No eosinophilic inflammation
Pre-school asthma: eosinophilic inflammation and usual asthma pathway - also caused by other triggers
Why is air pollution particularly pernicious for lungs? [2]
- Stick around in the airways: causes long term effects
- Has jaggered edges
Stepwise treatment of pre-school wheeze? [4]
Step 1: Inhaled SABAs; e.g. salbutamol
Step 2: Inhaled corticosteroids
Step 3: Leukotriene receptor antagonists
Step 4: refer to resp. paediatrician
Future treatments for pre-school wheeze? [2]
Bacterial lysates: given to provide trained innate immunity
Wheeze-scan: detect wheeze more easily
Explain the Barker Hypothesis
In-uterine exposure affects developing phenotype:
thrifty phenotype:
* if a baby in-utero is subject to poor nutrients (because of bad maternal diet), the epigenome is programmed to expect this environment post-natally.
* Developmental changes in cellular energy metabolism: glucose handling; lipid metabolism; mitochondria biogenesis
* When born and given a nutrient rich environment: get increased risk of susceptibility to metabolic disease, such as type 2 diabetes, obesity and CHD
What is the main mechansim of epigenetics? [1]
DNA methylation
