Chapter 31-35 Flashcards by Chanty Hudson

OTC intheritance

X-linked recessive
Most boys
Can be late onset girls

How well did you know this?

Not at all

Perfectly

Ammonia conversion in brain

To neurotoxic Glutamine

How well did you know this?

Not at all

Perfectly

Ammonia detoxified via

Urea cycle

How well did you know this?

Not at all

Perfectly

Fatty acid oxidation produces

ketones

How well did you know this?

Not at all

Perfectly

Features of fatty acid disorders

Low Glucose
High Ammonia
No Ketones at all

Liver derranged
Triggered by fasting

How well did you know this?

Not at all

Perfectly

Mildy elevated ammonia (100-200)

Liver failure
TPN
Sepsis
Delayed sample!

How well did you know this?

Not at all

Perfectly

OTC

Urea cycle defect

Boys
High Ammonia
Early Metabolic Alkalosis
Hyperventilates

In late presentation may be vomiting triggered

How well did you know this?

Not at all

Perfectly

MSUD

Amino Acidopathy
D3
Smells
Vomits
Floppy

Ketosis
Leucine toxicity
Rapid death

How well did you know this?

Not at all

Perfectly

Galactosaemia

GALT enzyme deficiency
Accumulation of toxic galactose

Week 1
Jaundice
Bleeding
Metabolic acidosis

Galactose and lactose restricted diet lifelong

How well did you know this?

Not at all

Perfectly

Glycogen storage disease

Disorder of glucose enzymes

<2 years
Affect liver and muscles
Abdo distended

Low glucose - persistent and severe
High Lactate
High Triglycerides

How well did you know this?

Not at all

Perfectly

Isovaleric Acidaemia

Organic Acidaemia
Cant break down leucine

Abnormal biochemistry + Ketosis
High ammonia
Low glucose
Low calcium
Low platelets
Acidosis

How well did you know this?

Not at all

Perfectly

Glutaric aciduria Type 1

Organic aciduria
Glutarylcarnitine on blood spot

High ammonia
Metabolic acidosis
Ketosis
Hypoglycaemia

Halt catabolism with IV dextrose
L Carnitine supplement

How well did you know this?

Not at all

Perfectly

Propionic Acidaemia

Organic Acidaemia

Abnormal biochemistry + ketosis

High ammonia
Low glucose
Thrombocytopaenia

How well did you know this?

Not at all

Perfectly

Cerebral Palsy

UMN lesion

Increased tone and reflexes
Upgoing plantars
Scissoring gait

MRI brain
Hip Xrays to check for dislocation

How well did you know this?

Not at all

Perfectly

LMN lesions

Trauma
Spina bifida
Spinal tumour
Spinal Muscular Atrophy (SMA)

Fasciculations
Continence/ sphincter control

How well did you know this?

Not at all

Perfectly

SMA

LMN disease
SMN1 defect

Alpha motor neuron from anterior horn cells
Progressive proximal muscle weakness

Hypotonia
Reduced/ absent reflexes
Tongue fasciculations
Genetic testing

How well did you know this?

Not at all

Perfectly

Myasthenia Gravis

Autoimmune
Antibodies against ACh receptors at neuromuscular junction.

Fatiguable weakness
Repeat movements progressively weaker
Eyelid weakness
Decreased facial expression
Bulbar symptoms

Antibody testing
EMG

How well did you know this?

Not at all

Perfectly

Duchenne inheritance

X-linked recessive

How well did you know this?

Not at all

Perfectly

SMA inheritence

Autosomal recessive
Boys

How well did you know this?

Not at all

Perfectly

Duchene Muscular dystrophy

Dystrophin defect
Proximal muscle weakness
Delayed walking

Gower sign
Calf hypertrophy
Tip toe walking
Waddling gait
Lumbar lordosis
Macroglossia

How well did you know this?

Not at all

Perfectly

Testing DMD

Serum Creatinine Kinase
Confirm with genetic testing

How well did you know this?

Not at all

Perfectly

Groups of neurons

Primary
Secondary
Tertiary

How well did you know this?

Not at all

Perfectly

Primary neurons

Study These Flashcards

Signals from receptors e.g. proprioceptors to synapse with secondary neurons in the CNS

Secondary Neurons

Study These Flashcards

Pass from spinal cord or brain stem to the thalamus

Tertiary neurons

Conduct impulses from thalamus to primar somatosensory area of the cerebral cortex on the post central gyrus

Dorsal column/Posterior Column

Fine touch Vibration Proprioception

Dorsal column course

VPF Synapse and decussate in the medulla Pathway is Ipsilateral

Pain + temperature

Spinothalamic Synapse in dorsal horn of grey matter Decussate in spinal cord Pathway is on contralateral side

Cranial nerve sensory travel

synapse in the pons

Motor pathways

Upper and lower motor neurons

Direct innervation of skeletal muscles

LMNs

Signals controlling the limbs and trunk carried by

UMS in corticospinal tracts Decussate in medulla, synapse in anterior horn of SC.

Lesions above the medulla

(UMN) Contralateral paralysis Cerebral palsy

Lesions below medulla, or in LMN

Ipsilateral damage e.g. polio

Cranial nerves with motor function

LMNs UMNs Synapse in brain stem, many have bilateral function

Ways to reduce ICP

Elevate head of bed to 30 degrees Hyperventilation

CSF produced where?

Choroid plexuses Mostly lateral ventricles

Course of CSF

Lateral ventricles 3rd ventricle Aqueduct of Sylvius Fourth ventricle Cisterna magna Subarachnoid space Arachnoid villi back into venous circulation

CSF produced each day

Up to 500ml

Furosemide

Can also be used to lower production of CSF Inhibits Na/K/2Cl carrier in renal tubules + choroid plexus Loop diuretic

Blood Brain Barrier

Substances must pass through cells, not between Tight junctions

Characteristics to pass BBB

Lipophilic (lipid soluble) Able to bind transport receptors Small non-polar

Mannitol

Raised ICP Forms osmotic gradient Draws water from extracellular space into circulation Diuresis

VSD Shunt

Left to Right Pink

Magnitude of shunt described by | Best predictor of heart failure

Ratio of Pulmonary (Qp): systemic (Qs) blood flow Qp:Qs ratio (pulmonary overcircuation) >1.5:1for moderate defects >2:1 large

Moderate VSD on ECHO

Dilatation of Left Atrium and Left Ventricle

VSD Shunt occurs in Systole or Diastole?

Systole (shunted blood goes straight into PA) Increases pulmonary venous return to LA + LV

Significant, untreated VSD?

Chronic pulmonary HTN Shunt reversal and Eisenmenger's

Most common VSD?

Peri-membranous (70-80%) Intersection between trabecular, inlet and outlet areas.

Spontaneous closure?

Peri-membranous and apical trabecular VSDs

Will not spontaneously close?

Inlet and outlet defects Any large defect

Role of drugs:

Diuretics ACEi Digoxin

Diuretics in VSD

Decrease volume of fluid in circulation, thus reduce volume of blood pumped into pulmonary circulation

ACEi in VSD

Weak diuretics Systemic vasodilators Reduce Systemic vascular resistance = blood diverted from pulmonary circulation

Digoxin in VSD

Weak inotropic agent Trial if Diuretics and ACEi unable to control cardiac failure

Indication for early VSD surgery

Aortic valve regurgitation = could cause permanent damage + conduction issues

Chapter 31-35 Flashcards

(56 cards)