Clinical Conditions Flashcards
To cover most clinical conditions you are required to know for ESA 1 I take no responsibility for any of the flashcards featured here...mistakes/shit happens.
What are the three main causes of atrophy?
-Disuse -Age -Denervation
What occurs to muscle fibres if they aren’t exposed against resistance frequently?
They shrink and weaken (smaller diameter due to loss of protein)…they don’t die
How can disuse atrophy occur?
-Bed rest -Limb immobilisation -Sedentary behaviour
How does denervation atrophy occur?
The muscle no longer receives contractile signals that are required to maintain normal size and muscle fibres are replaced with fibrous and fatty tissue
What is the consequence of muscle fibre being replaced by fibrous tissue?
It can lead to contractures and as the muscle shortens it may lead to debilitating and disfiguring contractures
What metabolic changes often occur during hypertrophy?
-Increased glycolysis enzyme activity -Increased mitochondria -Increased muscle glycogen stores -Increased blood flow
What is Myasthenia gravis?
-An autoimmune destruction of the end plate Ach receptors -Widening of the synaptic cleft -Loss of junctional folds at the end plate
What are the main presenting symptoms of myasthenia gravis?
-Ptosis (drooping eyelid) -Fatigue and sudden falling -Double vision
What is the crisis point of Myasthenia Gravis?
When it affects respiratory muscles
What is the main drug treatment for Myasthenia Gravis?
Acetylcholinesterase inhibitors
How is neuromuscular transmission disrupted in Botulism?
Toxins block the release of acetylcholine
How is neuromuscular transmission disrupted in organophosphate poisoning? What is the main consequence?
Irreversibly inhibits the actions of acetylcholinesterase meaning the receptors are constantly activated - permanent muscle contraction
How does muscular dystrophy occur?
Genetic faults cause the absence or reduced synthesis of specific proteins which anchor actin filaments to the sarcolemma (cell wall) to such a degree that muscle fibres may tear themselves apart during contraction
What are the main symptoms of Duchenne’s Muscular Dystrophy (DMD)?
-Gower’s sign (use of hands/knees for strength) -Contractures (shortened muscles, don’t stretch) -Pseudohypertrophy (enlarged calf/deltoid muscles before fat/CT show up) -Difficulty standing/weakness
What are the two main treatments for Duchenne’s Muscular Dystrophy (DMD)?
-Ataluren - makes dystrophin -Steroids - prednisolone
What is the difference between Becker’s and Duchenne’s muscular dystrophy?
Duchenne’s is the complete inability to produce dystophin whereas Becker’s is just an insufficient dystrophin production
What is malignant hyperthermia?
Malignant hyperthermia is a rare, autosomal dominant disorder that causes a life threatening reaction to certain drugs used for general anaesthesia due to a faulty protein channel for calcium
What are the main symptoms of malignant hyperthermia?
- Uncontrolled increase in skeletal muscle oxidative metabolism -Sharp CO2 increase, O2 decrease -Circulatory collapse
How do the symptoms of malignant hyperthermia occur?
-Exposure to the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine -Excessive calcium release -High amounts of ATP needed to put calcium back
What is the main treatment for malignant hyperthermia?
-Treat hyperthermia + complications -Discontinuation of triggering agent -Dantrolene which works by preventing calcium release
How do you treat Kwashiorkor?
Make alterations to the diet to ensure correct amount of protein intake. However, be aware of refeeding syndrome!
How do you treat Marasmus?
Changes to the diet - avoid REFEEDING SYNDROME!
What are the symptoms of Galactosaemia?
-Cataracts -Glaucoma -Damage to the kidney, liver and brain possible by galactose-1-phosphate
What are the symptoms of hypercholesterolaemia (hyperlipoproteinaemias Type IIa)?
-Corneal Arcus -Tendonal Xanthoma (fatty deposits on tendons) -Xanthelasma - fatty deposits under skin (around eyes) -Absence or deficiency of LDL receptors
What are the symptoms of Kwashiorkor?
-Abdominal distension due to enlarged liver (hepatomegaly) and odema (ascites) -Anaemia (low serum albumin) -Lethargy/apathy
What are the symptoms of Marasmus?
-Muscle wasting -Loss of body mass -Thin and dry hair -No oedema -Diarrhoea
What causes Galactosaemia?
The lack of the galactose kinase or galactose 1-phosphate uridyl transferase enzyme causes build up of galactose or galactose 1-phosphate and galactose respectively.
What causes Kwashiorkor?
A complete deficiency of protein, however, a small amount of carbohydrate remains in the diet
What causes Marasmus?
Marasmus is caused by a diet lacking in all types of food, it is not only a protein deficiency
What treatments are available for treating hyperlipoproteinaemias?
-Lifestyle -Diet -Statins (block the HMG CoA reductase enzyme) -Bile sequestrants (prevent reabsorption of bile into gut)
Which skin condition results in patchy hair loss? How is it caused?
Alopecia areata caused by the autoimmune destruction of hair follicles
Which skin condition results in patches of depigmentation? How is it caused?
Vitiligo - autoimmune destruction of melanocytes
What is the cause of multiple sclerosis?
An autoimmune condition where the myelin sheath around axons is destructively removed, in a patchy fashion, then replaced with scar tissue. The conduction velocity slows down, as salutatory propagation is impaired.
What is placenta praevia?
Implantation in the lower uterine segment which leads to the placenta growing and blocking the cervix.
What is an ectopic pregnancy?
Where there is implantation anywhere other than the uterus (possibly in the fallopian tube)
What intervention is usually given for placenta praevia?
Caesarian section
What intervention is usually given in ectopic pregnancy?
-Methotrexate - termination of pregnancy -Surgical removal
Why is it that ectopic pregnancy can quickly become a life-threatening emergency?
It can cause damage to the site it is growing in.
In cystic fibrosis which protein channel is affected? What does it transport?
Cystic fibrosis transmembrane conductance regulator (CFTR) channel transports chloride ions across epithelial membranes
If there is a defective CFTR protein what happens to the secretions of epithelial cells?
Becomes more viscous
What is the main problem cystic fibrosis causes for the lungs?
Thick and viscous mucous leads to recurrent infection
What is the main problem cystic fibrosis causes for the pancreas?
The mucous blocks the pancreatic ducts reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion
What possible treatments and management steps are available for cystic fibrosis?
-Physiotherapy -Antibiotics -Infection management -Gene replacement
What are the signs and symptoms of glucose 6-phoshate dehydrogenase deficiency? How are they caused?
-Fatigue (heinz body formation) -Dark urine/Jaundice (bilirubin formation from haemolysis)
What is a glycogen storage disease?
An abnormality in one or many of the enzymes of glycogen metabolism.
What is phenylketonuria?
Inherited disorder in which the urine contains large amounts of phenylketones produced from phenylalanine (can’t break down phenylalanine)
Which enzyme is normally defective in phenylketonuria?
Phenylalanine hydroxylase
What builds up when phenylalanine hydroxylase isn’t functioning correctly?
Phenylalanine accumulates in tissues and blood and is metabolised by other pathways to produce various products (phenylpyruvate) that are excreted in the urine.
How is phenylketonuria treated?
Diet low in phenylalanine.
What is homocystinuria?
A rare inherited autosomal recessive defect in methionine metabolism, caused by a deficiency in the cystathionine β-synthase (CBS) enzyme
What does the CBS normally convert homocysteine to? What is this further converted to?
Cystathionine further converted to cysteine
What does elevated plasma levels of homocysteine cause?
Causes disorders of connective tissue, muscle, CNS and the cardiovascular system
What is homocystine?
The oxidised form of homocysteine
In children what other condition is homocystinuria often misdiagnosed as?
Marfan’s syndrome