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Yr 2 EOYS > HD EOYS8 > Flashcards

HD EOYS8 Flashcards

1
Q

A deficiency in short stature homebox gene (SHOX) would cause which dissproportional growth syndrome? [1]

A

Leri-Weill dyschonrosteosis (LWD)

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2
Q

Which of the following presents with madelung deformity?

Achondroplasia
Hypochondroplasia
Leri-Weill dyschonrosteosis (LWD)
Rickets

A

Which of the following presents with madelung deformity?

Achondroplasia
Hypochondroplasia
Leri-Weill dyschonrosteosis (LWD)
Rickets

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3
Q

Growth deficiency caused by Tuner Syndrome can be treated with

GH
Oxandrolone
Testosterone
Cortisol

A

Growth deficiency caused by Turner Syndrome can be treated with

GH
Oxandrolone
Testosterone
Cortisol

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4
Q

Growth deficiency caused by idiopathic short statue can be treated with

GH
Oxandrolone
Testosterone
Cortisol

A

Growth deficiency caused by idiopathic short statue can be treated with

GH
Oxandrolone
Testosterone
Cortisol

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5
Q

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

A

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

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6
Q

What does the arrow from this slide from a liver of an 80 year old depict?

A

lipofuscin

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7
Q

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

A

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

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8
Q
A
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9
Q

Fibromyalgia in older age is due to a decrease in

noradrenaline
dopamine
GABA
serotonin
glutamate

A

Fibromyalgia in older age is due to a decrease in

noradrenaline
dopamine
GABA
serotonin
glutamate

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10
Q

What are reactive and / or disinhibited social disorders a result of? [1]

A

social neglect or maltreatment.

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11
Q

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

A

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

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12
Q

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

A

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

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13
Q

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

A

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

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14
Q

How do you go about evaluating a child with short stature? [4]

A

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?)

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15
Q

Evaulation of short stature:

Name 4 disproportionate growth patterns [4]

A

If growth is proproptionate or disproportionate

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16
Q

Which conditions would create disproportionate short stature? [4]

A
  • Achondroplasia – have shorter secondary limbs which make disproportionate growth
  • Hypochondroplasia
  • Leri-Weill dyschonrosteosis (LWD)
  • Rickets
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17
Q

Evaulation of short stature:
What would you do after investigating if child has proprotional / dissproportional growth? [2]

A

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

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18
Q

Describe the physiopathology of Leri-Weill dyschonrosteosis (LWD):

  • Inheritance pattern? [1]
  • Mutation to which gene? [1]
  • How do LWD individuals present? [4]
A

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

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19
Q

Describe the madelung deformity of the forearm in LWD [3]

A

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.

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20
Q

Name two other pathologes that madelung deformity of the forearm is seen in (apart from LWD) [2]

A

Turners Syndrome
Idiopathic short stature

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21
Q

Which systemic disorders could cause proportionate short stature? [3]

A

GI Diseases (Coealiac Disease / Lactose intolerance)

Chronic renal diseases

Idiopathic short stature

22
Q

How do you treat idiopathic short stature? [1]

A

Growth Hormone - will increase overall height
(but expensive)

23
Q

Name a treatment for Turner Syndrome growth deficieny [1]

A

Oxandrolone

24
Q

What endocrine disorders might you think about for proprionate short stature? [2]

A

Hypothyroidism
Hypercortisolism

25
Q
A
26
Q

What is difference between pre-school wheeze and pre-school asthma? [2]

A

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

27
Q

Stepwise treatment of pre-school wheeze? [4]

A

Step 1: Inhaled SABAs; e.g. salbutamol
Step 2: Inhaled corticosteroids
Step 3: Leukotriene receptor antagonists
Step 4: refer to resp. paediatrician

28
Q

Future treatments for pre-school wheeze? [2]

A

Bacterial lysates: given to provide trained innate immunity

Wheeze-scan: detect wheeze more easily

29
Q

Explain the link between methylation of DMD region and IGF-2 in mother and father

A

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

30
Q

How do conduct disorder symptoms present when a child is:

under 5 [4]
5-12 yrs old [5]
In adolescence [5]

A

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

31
Q

Risk factors for conduct disorder? [5]

A

Boys
Inner cities
Socioeconomic disadvantage
Fx of conflict
Difficult temperament

32
Q

What are risk factors for emotional disorders? [4]

A
  • Boys = girls
  • No association between socio-economic status
  • Family factors (overprotection; parental anxiety)
  • Quiet, compliant temperament
33
Q

What is the triad that makes ADHD? [3]

A

Hyperactivity
Inattention
Impulsivity

(But can have 2/3 and have a subtype)

34
Q

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]

A

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

35
Q

What are the pharmacological treatments for ADHD? [2]

A

Methlyphenidate (aka ritalin)
Lisdexamfetamine

36
Q

What are non- pharmacological treatments for ADHD? [2]

A
  • parenting programmes
  • behaviour teacher
  • advice for teachers
37
Q

Define what an attachment disorder is [1]

What are the two types of attachment disorders? [2]

A

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

38
Q

Explain how the following present

  • Reactive attachment disorder
  • Disinhibited attachment disorder
A

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

39
Q

Name 5 peripheral effects of decreased serotonin levels due to old age [5]

A
  • Increased Pain - associated with fibromyalgia
  • Less effective coagulation
  • Less gut motility
  • Decreased vascular tone
  • Reduced libido
40
Q

Why does the liver become less efficient with age? [1]

A

Accumulation of lipofuscin (brown atrophy) in hepatocytes: hepatocytes less efficient

(Lipofuscin yellow-brown pigment composed of lipid containing residues from lysomal digestion)

41
Q

Which enzymes decreae in the liver? [1]

What effect does this have physiologically? [1]

A

Decline in P450 enzymes with age

Causes altered metabolic clearance of certain drugs

42
Q

Effects of ageing on the immune system:

Describe the physiological changes caused to neutrophils due to ageing [3]

A
  • Decreased chemotaxis
  • Decreased phagocytosis
  • Decreased free radical production
43
Q

Effects of ageing on the immune system

Describe the changes to phagocytes seen with increased age [2]

A
  • Increase in CD16+ pro-inflammatory population
  • Decrease phagocytic ability and less free radicals
44
Q

Effects of ageing on the immune system

Dendritic cells:

Which anti-inflammatory cytokines are produced less of? [1]

Which TLR subpopulations are decreased? [2]

A

Make less IL12 (anti-inflammatory cytokine)

Decrease in TLR-7 and TLR-9 subpopulations

45
Q

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]

A

Natural killer cells:

  • Preserved production of IFN-ϒ
  • decline in chemokine production

(overall function of NK cells decreases, despite increase in number)

46
Q

Overall change in immune system? [1]

A

Move to an inflammatory environment: increased levels of pro-inflammatory cytokines

47
Q

Effects of ageing on the endocrine system:

Which hormones are decreased with age? [3]

A
  • Glucose tolerance decreases
  • Production of sex hormones decreases (Testosterone decreases less than oestrogen and progesterone)
  • Growth hormone
48
Q

Effects of ageing on the endocrine system:

Which hormones increase with age? [2]

A

Cortisol
Insulin

49
Q

Which endocrine systems are most effected by old age? [3]

A

Glucose homeostasis
Reproductive function
Calcium metabolism

50
Q

Define sarcopenia [1]

A

Sarcopenia has been defined as an age related, involuntary loss of skeletal muscle mass and strength

51
Q

Liver histology

What is the arrow pointing at? [1]

A

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

Yr 2 EOYS (58 decks)

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