HD EOYS7 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
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
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?)
Which conditions would create disproportionate short stature? [4]
- Achondroplasia – have shorter secondary limbs which make disproportionate growth
- Hypochondroplasia
- Leri-Weill dyschonrosteosis (LWD)
- Rickets
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
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
Future treatments for pre-school wheeze? [2]
Bacterial lysates: given to provide trained innate immunity
Wheeze-scan: detect wheeze more easily
Explain the link between methylation of DMD region and IGF-2 in mother and father
Mother:
* demethylated DMD region drives coding of H19 region
Father:
* DMD methylated (inactivated)
* Prevents coding of H19
* Causes IGF-2 to be created - drives growth of child in adolesence and middle age
Risk factors for conduct disorder? [5]
Boys
Inner cities
Socioeconomic disadvantage
Fx of conflict
Difficult temperament
What are risk factors for emotional disorders? [4]
- Boys = girls
- No association between socio-economic status
- Family factors (overprotection; parental anxiety)
- Quiet, compliant temperament
What is the triad that makes ADHD? [3]
Hyperactivity
Inattention
Impulsivity
(But can have 2/3 and have a subtype)
Expand how each of the following present in ADHD children
Hyperactivity [2]
Inattention [3]
Impulsivity [2]
Where do symptoms need to occur for a diagnosis of ADHD? [1]
Symptoms need to be present in two locations (e.g. school and home)
Hyperactivity
* Restless and fidgety
* Unable to wait
Impulsivity
* Acts without thinking
* Answers before questions finished
Inattention
* Jumps from task to task
* Careless mistakes
* Doesnt listen properly
What are the pharmacological treatments for ADHD? [2]
Methlyphenidate (aka ritalin)
Lisdexamfetamine
Explain how the following present
- Reactive attachment disorder
- Disinhibited attachment disorder
Reactive attachment disorder (inhibited type):
* Child is extremely withdrawn
* Emotionally dettached
* Hypervigilant / v aware of whats going on
* Ignore others / can get aggressive if others try to get too close
Disinhibited attachment disorder
* Not seem to prefer parents to strangers
* Comfort and attention from anyone (without distinction)
* Act younger than their age
Effects of ageing on the immune system
Describe the changes to phagocytes seen with increased age [2]
- Increase in CD16+ pro-inflammatory population
- Decrease phagocytic ability and less free radicals
Effects of ageing on the immune system
Dendritic cells:
Which anti-inflammatory cytokines are produced less of? [1]
Which TLR subpopulations are decreased? [2]
Make less IL12 (anti-inflammatory cytokine)
Decrease in TLR-7 and TLR-9 subpopulations
Effects of ageing on the immune system
Natural killer cells
have a preserved production of [] ? [1]
Natural killer cells have a decline in [] production [1]
Natural killer cells:
- Preserved production of IFN-ϒ
- decline in chemokine production
(overall function of NK cells decreases, despite increase in number)
Effects of ageing on the endocrine system:
Which hormones are decreased with age? [3]
- Glucose tolerance decreases
- Production of sex hormones decreases (Testosterone decreases less than oestrogen and progesterone)
- Growth hormone
Effects of ageing on the endocrine system:
Which hormones increase with age? [2]
Cortisol
Insulin
