HD EOYS8 Flashcards
A deficiency in short stature homebox gene (SHOX) would cause which dissproportional growth syndrome? [1]
Leri-Weill dyschonrosteosis (LWD)
Which of the following presents with madelung deformity?
Achondroplasia
Hypochondroplasia
Leri-Weill dyschonrosteosis (LWD)
Rickets
Which of the following presents with madelung deformity?
Achondroplasia
Hypochondroplasia
Leri-Weill dyschonrosteosis (LWD)
Rickets
Growth deficiency caused by Tuner Syndrome can be treated with
GH
Oxandrolone
Testosterone
Cortisol
Growth deficiency caused by Turner Syndrome can be treated with
GH
Oxandrolone
Testosterone
Cortisol
Growth deficiency caused by idiopathic short statue can be treated with
GH
Oxandrolone
Testosterone
Cortisol
Growth deficiency caused by idiopathic short statue can be treated with
GH
Oxandrolone
Testosterone
Cortisol
Stage 3 of step-wise intervention of pre-school wheeze is:
short acting muscarinic antagonist
leukotriene antagonist
leukotriene agonist
long acting muscarinic agonist
long acting muscarinic antagonist
Stage 3 of step-wise intervention of pre-school wheeze is:
short acting muscarinic antagonist
leukotriene antagonist
leukotriene agonist
long acting muscarinic agonist
long acting muscarinic antagonist
What does the arrow from this slide from a liver of an 80 year old depict?
lipofuscin
Age related changes in the immune system:
Which cell type sees an incresed CD16+ pro-inflammatory population?
Neutrophils
Dendritic cells
Macrophages
Lymphocytes
Natural killer cells
Age related changes in the immune system:
Which cell type sees an incresed CD16+ pro-inflammatory population?
Neutrophils
Dendritic cells
Macrophages
Lymphocytes
Natural killer cells
Fibromyalgia in older age is due to a decrease in
noradrenaline
dopamine
GABA
serotonin
glutamate
Fibromyalgia in older age is due to a decrease in
noradrenaline
dopamine
GABA
serotonin
glutamate
What are reactive and / or disinhibited social disorders a result of? [1]
social neglect or maltreatment.
Ageing affect on immune system.
Which of the following cell types makes less IL12 due to older age?
Neutrophils
Dendritic cells
Macrophages
Lymphocytes
Natural killer cells
Ageing affect on immune system.
Which of the following cell types makes less IL12 due to older age?
Neutrophils
Dendritic cells
Macrophages
Lymphocytes
Natural killer cells
Ageing affect on immune system.
Which of the following cell types makes same level of IFN-ϒ?
Neutrophils
Dendritic cells
Macrophages
Lymphocytes
Natural killer cells
Ageing affect on immune system.
Which of the following cell types makes same level of IFN-ϒ?
Neutrophils
Dendritic cells
Macrophages
Lymphocytes
Natural killer cells
Ageing affect on immune system.
Which of the following cell types increases in number with old age?
Neutrophils
Dendritic cells
Macrophages
Lymphocytes
Natural killer cells
Ageing affect on immune system.
Which of the following cell types increases in number with old age?
Neutrophils
Dendritic cells
Macrophages
Lymphocytes
Natural killer cells
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:
Name 4 disproportionate growth patterns [4]
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