HD2 Revision8 Flashcards

1
Q

What weight loss at any stage is a concern and needs assessment? [1]

A

10%

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2
Q

When do you measure neonatal weight in first year of life? [4]

A

8, 12 and 16 weeks and 1 year

(same time as immunisations)

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3
Q

What drop in weight (in centiles) would need further assessment of a growth chart? [1]

A

2 or more centiles

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4
Q

What is important to remember for normal rate of weight gain and growth throughout first year? [2]

A

Weight often does not follow a particular centile especially in 1st year

Usually tracks within one centile space (gap between 2 centile lines)

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5
Q

What is the first line treatment for osteoporosis? [1]

A

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:

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6
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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7
Q

Evaulation of short stature:

After conducting initial 4 steps, what would you investigate? [1]

A

If growth is proproptionate or disproportionate

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8
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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9
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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10
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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11
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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12
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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13
Q

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

A

GI Diseases (Coealiac Disease / Lactose intolerance)

Chronic renal diseases

Idiopathic short stature

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14
Q

How do you treat idiopathic short stature? [1]

A

Growth Hormone - will increase overall height
(but expensive)

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15
Q

Name a treatment for Turner Syndrome growth deficieny [1]

A

Oxandrolone

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16
Q

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

A

Hypothyroidism
Hypercortisolism

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17
Q
A
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18
Q

When does wheeze occur: Inspiratory or Expiratory?
When does croup occur: : Inspiratory or Expiratory?

A

When does wheeze occur: Expiratory
When does croup occur: : Inspiratory

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19
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

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20
Q

Why is air pollution particularly pernicious for lungs? [2]

A
  • Stick around in the airways: causes long term effects
  • Has jaggered edges
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21
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

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22
Q

Future treatments for pre-school wheeze? [2]

A

Bacterial lysates: given to provide trained innate immunity

Wheeze-scan: detect wheeze more easily

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23
Q

Explain the Barker Hypothesis

A

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

24
Q

What is the main mechansim of epigenetics? [1]

A

DNA methylation

25
Q

What effect does increased / decreased methylation have on genes? [2]

A

Increased methylation usually switches gene off

Decreased methylation increases gene expression

26
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

27
Q

What does IGF-2 code for?

A

IGF2 is a key factor in human growth

28
Q

Which 4 diseases do Barker’s Hypothesis increase the liklihood of? [4]

A

DMT2

  • Hyperinsulinemia
  • leptin resistance in brain: Obesity
  • lipid accumulation in CV system: CVD
29
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

30
Q

Risk factors for conduct disorder? [5]

A

Boys
Inner cities
Socioeconomic disadvantage
Fx of conflict
Difficult temperament

31
Q

What is an emotional disorder? [1]

Give 3 examples

A

Disturbance of mood, persistent and not in response to a single identified stressor

E.g. Anxiety, fearfulness or depression

32
Q

Give symptoms of emotional disorders [3]

A

Fears (seperation, social, anxiety)
Somatic symptoms: abdominal pain / headaches
Fall off in school performance, truancy and fear of school

33
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
34
Q

What is the triad that makes ADHD? [3]

A

Hyperactivity
Inattention
Impulsivity

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

35
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

36
Q

What are the pharmacological treatments for ADHD? [2]

A

Methlyphenidate (aka ritalin)
Lisdexamfetamine

37
Q

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

A
  • parenting programmes
  • behaviour teacher
  • advice for teachers
38
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

39
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

40
Q

Which NT affects neuronal system which changes with age? [1]

A

Serotonin system changes

41
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
42
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)

43
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

44
Q

Effects of ageing on the immune system:

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

A
  • Decreased chemotaxis
  • Decreased phagocytosis
  • Decreased free radical production
45
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
46
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

47
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)

48
Q

Overall change in immune system? [1]

A

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

49
Q

Effects of ageing on the gastrointestinal system

What changes to oral cavity occur with age? [1]

A

Xerostomia (dry mouth)

50
Q

Effects of ageing on the gastrointestinal system

Specifically which parts of taste are lost with age? [2]

A

Loss of sweet and salty more than bitter and sour, umami

51
Q

Effects of ageing on the gastrointestinal system

The decrease in pancreatic and gastric enzymes impedes the absoprtion of which vitamins and minerals? [4]

A
  • Vitamin D
  • calcium
  • iron
  • folic acid
52
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
53
Q

Effects of ageing on the endocrine system:

Which hormones increase with age? [2]

A

Cortisol
Insulin

54
Q

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

A

Glucose homeostasis
Reproductive function
Calcium metabolism

55
Q

Define sarcopenia [1]

A

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

56
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