HD EOYS7 Flashcards by patrick ellis | Brainscape

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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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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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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Q

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

A

lipofuscin

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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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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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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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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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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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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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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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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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Q

How do you treat idiopathic short stature? [1]

A

Growth Hormone - will increase overall height
(but expensive)

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Q

Name a treatment for Turner Syndrome growth deficieny [1]

A

Oxandrolone

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Q

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

A

Hypothyroidism
Hypercortisolism

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Q

A

Q

Future treatments for pre-school wheeze? [2]

A

Bacterial lysates: given to provide trained innate immunity

Wheeze-scan: detect wheeze more easily

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

Q

Risk factors for conduct disorder? [5]

A

Boys
Inner cities
Socioeconomic disadvantage
Fx of conflict
Difficult temperament

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

Q

What is the triad that makes ADHD? [3]

A

Hyperactivity
Inattention
Impulsivity

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

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

Q

What are the pharmacological treatments for ADHD? [2]

A

Methlyphenidate (aka ritalin)
Lisdexamfetamine

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

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

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

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)

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

Q

Effects of ageing on the endocrine system:

Which hormones increase with age? [2]

A

Cortisol
Insulin