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
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
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
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 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
How do conduct disorder symptoms present when a child is:
under 5 [4]
5-12 yrs old [5]
In adolescence [5]
under 5
* Physical / verbal aggression
* Destructive
* Poor attention
* Frequent / severe tantrums
5-12 yrs old [5]
* Lying
* Stealing
* Defiance
* Cruelty to animals
* Fire setting
In adolescence [5]
Truancy
Delinquency (minor crime, especially that committed by young people)
Violence
Sex offences
Drug / alcohol abuse
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
What are non- pharmacological treatments for ADHD? [2]
- parenting programmes
- behaviour teacher
- advice for teachers
Define what an attachment disorder is [1]
What are the two types of attachment disorders? [2]
Marked distress and social impairment as a result of an extremely abnormal pattern of attachment, typically due to repeated changes of care-giver in early childhood
2 types:
- Reactive attachment disorder
- Disinhibited attachment disorder
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
Name 5 peripheral effects of decreased serotonin levels due to old age [5]
- Increased Pain - associated with fibromyalgia
- Less effective coagulation
- Less gut motility
- Decreased vascular tone
- Reduced libido
Why does the liver become less efficient with age? [1]
Accumulation of lipofuscin (brown atrophy) in hepatocytes: hepatocytes less efficient
(Lipofuscin yellow-brown pigment composed of lipid containing residues from lysomal digestion)
Which enzymes decreae in the liver? [1]
What effect does this have physiologically? [1]
Decline in P450 enzymes with age
Causes altered metabolic clearance of certain drugs
Effects of ageing on the immune system:
Describe the physiological changes caused to neutrophils due to ageing [3]
- Decreased chemotaxis
- Decreased phagocytosis
- Decreased free radical production
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)
Overall change in immune system? [1]
Move to an inflammatory environment: increased levels of pro-inflammatory cytokines
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
Which endocrine systems are most effected by old age? [3]
Glucose homeostasis
Reproductive function
Calcium metabolism
Define sarcopenia [1]
Sarcopenia has been defined as an age related, involuntary loss of skeletal muscle mass and strength
Liver histology
What is the arrow pointing at? [1]
Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes
