disease profiles Flashcards
rickets?
vitamin d deficiency
failure of calcium absorption
scurvy?
- vitamin C deficiency
- dry skin and gums
lack of collagen
Galactosemia
Hereditary disorder of carbohydrate metabolism that effects the ability to convert galactose into glucose to be broken down.
Toxic effects on the liver, brain, kidneys and eyes.
Hyperglycaemia
High blood sugar
What is an indicator of diabetes control
HbA1c
Describe lactose intolerance
Lack of lactase in the small intestine - lactase is the enzyme that breaks lactose into galactose and glucose - lactose will pass into the colon and bacteria will ferment lactose causing cramps and bloating.
atheroscelorsis
the build up of plaque in arteries distrupting the flow of blood
protein LDL receptor = responsible for regulation of cholesterol transpo
sickle cell anaemia
- single amino acid change at position 6 in the beta chain.
- hydrophilic glutamic acid changed to hydrophobic valine
- cant carry oxygen as effectively
brittle bones disease
osteogenesis imperfecta
- mutation in the gene coding for one of the collagen subunits
- glycine will be replaced by cysteine at one point in the chain
loss of the triple helix
Ehlers-Danloss syndrome
- loose skin and hypermobile joints
- lack of procollagen
chronic myeloid leukaemia symptoms?
-anaemia
- enlarged spleen
- sore bones
- high WBC
- high platalet count
there is a chronic, accelarted and blast phase.
blast phase has sever symptoms and often death.
CML treatment
Imatinib - this is a tryrosine kinase inhibitor which will prevent the proliferation of themutated philadelphia chromosome.
AML treatment?
chemotherapy
- this will cause marrow aplasia= decrease in blood cells responsible for the formation of blood.
- the hope is that the stem cells will generate the new bone marrow at a quicker rate than the chemo wi destroy it
side effects to the AML treatment?
- bleeding
- long stay in hospital (sphycological effects)
- infection
- neutropenia
- anaemia
AML will present with symptoms of marrow failure.
what does smoking related carbon monoxide cause?
intrauterine retardation
what does smoking cause when it damages nicotinic receptors?
increase blood pressure and heart rate
what diseases does the metabolism of alcohol underpin?
- acetylaldehyde = carcinogenic
- increased oestrogen levels = breast cancer
- ## decreases NAD levels= alters lipid metabolism - fat
What can pyruvate kinase deficiency cause?
It can cause anaemia by haemolysis- increase rate of RBC destruction
osteomylitis?
Infection of the bone
chronic inflammation?
an inflmmatory process in which lymphocytes, plasma cells and macrophages predominate
what is the most common cause of B12 deficiency?
pernicous anaemia
duchennes muscular dystrophy?
nonsense gene mutation causing the adsense of dystrophin adaptor due to premature termination of translation.
signs of duchennes muscular dystrophy?
- muscle wasting
- muscle weakness
treatment for DMD?
PTC 124 - ataluren
thought to override the premature stop signal mutation to produce normal dystrophin
what is shingles characterised by?
burning 2-3 days before development
what cells make up callus in bone fractures?
connective tissue and hyaline cartilage
what factors effect bone healing?
- age
- nutrients
- bone disorders (osteoporosis)
- drugs
- degree of trauma
- systemic disorders (diabetes)
osteoporosis
defective osteoclast function resulting in failure of normal bone resorption
endometriosis
the development of endometrial tissue outside the uterine cavity, causing pain and infertility.
Waardenburg syndrome?
defective neural crest development, causing pigmentation abnormality, hetrochromia in eyes.
PAX-3 or SOX10 gene deletion
Treacher Collin syndrome?
defective protein called TCOF1- failure in formation or apoptosis of neural crest cells.
Parkinsons?
the substantia nigra neurone start to degenerate and are lost which effects motor movement.
Pre eclampsia?
The spiral arteries keep their muscular walls and out as high resistance vessels which causes high blood pressure and proteinaria
What is proteinaria?
Increased levels of protein in the urine.
What are the 3 main teratogens that cause feotal malformations?
- Drug chemicals
- infectious agents like rubella
- Ionising radiation
FASD will cause what?
- growth redartadion
- CNS damage
- effects on facial development
What are the 2 drugs that can b used to treat seizures?
Phenytoin- increases the refractory period between firings in voltage gated sodium channels
Benzodiazepines- increases the action of GABA
Benzodiazepines
They will enhance the effectiveness of GABA
It acts on separate binding site that controls the ability of GABA to open the channel.
Alcoholism?
Causes a change in GABA transmission, withdrawal will result in convulsive movements and seizures,can be treated with benzodiazepines.
Tetanus
- It win be caused by a toxin called clostridium tetani
- inhibits the release of glycine
Mild effects will be restricted to muscles, while more extreme cases will cause fits
Treated with anti-toxin and benzodiazepines.
A decrease in which catecholamine is associated with Parkinson’s and ADHD?
Noradrenaline
Why are 3 d what are the 3 bad effects of dopamine?
PARKINSONS
- tremor, muscle rigidity due do deleted dopamine in the motor co-ordination circuit.
SCHIZOPHRENIA
- over production of dopamine in the mesolimbic system, treat with antipsychotics
ADDICTION
- to drugs of abuse, exercise and sexual behaviour
- mesolimbic dopamine system
What can the effects of SERATONIN be? And now would these effects be treated?
Depression and obsessive compulsive disorder are both associated with serotonin dysfunction reduction.
Fluoxetine
Alzheimer’s disease?
Associated with dysfunction (reduction) of ACh in the CNS
Myotonia?
The inability to relax muscles at will
What causes myotonic dystrophy?
A trinucleotide repeat that occurs many times in a now in one location.
Werners syndrome
Premature aging
Aniridia?
This is when there is no iris in the eye caused by the lack of transcription factor PAX6
Frasier syndrome?
A kidney disease that causes FSGS, where scar tissue forms in the kidney glomeruli
Describe catecholaminergic polymorphic ventricular tachycardia (CPVT)
Inheritable autosomal dominant condition
Symptoms = dizzy spells, fainting episodes, sudden cardiac death
What is the underlying mechanism of CPVT?
69 point mutations in the RyR2 gene
Malignant hyperthermia underlying mechanism
Point mutation in gene coding for RyR1
What can cause arrhythmia?
Inappropriate release of calcium from stores.
Why is CPVT difficult to diagnose?
Because it is characterised as ventricular arrhythmias that only occur during times of stress or exercise which is when adrenaline is released
Jefferson’s fracture
Fracture to the anterior and posterior arch of the atlas
- axial loading injury
Hangman fracture
C2 fracture
- high force hyper extension of the neck
- bilateral fracture of the pars interarticularis
When does annular fibrosis tears occur?
When the water content will decline with age reducing tension in the annulus fibrosis.
Sciatica?
Pain or para ethesia in the dermatomal distribution of sciatic nerve
Kyphosis?
Excessive curvature of the spine especially in the thoracic region.
Complications of scoliosis?
Compression on the lungs.
Spondylosis?
Degeneration of the facet joint or ligamentum flavum.
Prevents excess rotation or lateral flex ion of the vertebrae
Spondylolysis?
Stress fracture through the pars interarticularis of the lumbar vertebrae
Spondylolistheisis?
Anterior slip of a vertebrae on the lower segment due to weakness of the ligamentum flavum or fracture of pedicle.
Osteomyelitis?
Infection of the bone and bone marrow
Discitis?
Infection of the intervertebral disc
What are degenerative changes that can cause lumbar invertebral disc herniation?
When the nucleus pulposus is replaced with fibrous tissue over time.
The weight will be transferred to the annulus fibrosis causing fissures over time.
Once the fissure reaches the periphery, there will be risk of nucleus palposus herniation.
What are 3 common causes of disc herniation in athletes?
Sprain
Spondylosis
Disc herniation
What will cause a tear in the intraspinous ligament?
Direct impact and hyperflexion.
What are causes of cauda equine syndrome?
- degenerative
- malignant
- lumbar disc herniation
- truama
Thalaseamia
Inherited detect in globin chain production
What can the molecule 2,3 DPG cause to the oxygen dissociation
This molecule is an intermediate step in glycolysis, it will produce a right shift in oxygen dissociation allowing more o2 to be released to the tissues.
It does this by entering the globin chains and releasing O2, meaning deoxyheamoglobin.
How will dead rbc be cleaned up by the body?
- it will be mopped up by hepatoglobin and cleared by the liver
- globin chains will be broken into amino acids
- iron will be returned to macrophages
- porphyrin ring becomes bilirubin, bound to albumin and conjugated to glucoronide.
cystic fibrosis
autosomal recessive
mutation in CFTR
decrease in HCO3- secretion, blockage of ducts and eventual destruction of the pancreas.
acute pancreatitis
inflammatory condition that causes local damage to the pancreas
caused by: alcohol and gallstones
pathogenesis is thought to originate in the acinar cells.
gallastones
this is the build up of cholesterol due to distribution of bile secretion and cholesterol elimination.
cholestasis
- suppression of bile secretion (nothing moving)
- regurgitation of bile components leading to juandice and itching
- damage to hepatocytes
- caused by mechanical obstruction
atherosclerosis
loss of proper endothelial function
common in patients with diabetes and hypertension
Lymphangitis?
Lymphadenitis?
Lymphangitis = inflammation of the lymphatic system
Lymphadenitis = inflammation of the local lymph node
macroscopic features of chronic inflammation?
ulcers
fibrosis
granulomatous process
what are the vascular changes that occur during acute inflammation?
1- vasoconstriction- due to a combination of thromboxane A2 and reflex from pain receptors
2- Vasodilation-histamine released from mast cells and nitric oxide released from endothelial cells
3- Increased permeability of vessels- protein leakage which causes edema
4- RBCs become more concentrated and stasis occurs- fluid is leaving the vessels making the blood more viscous and run more slowly
5- Neutrophil margination- stasis allows white blood cells to line up on the peripheral edge of the vessel
where will you find a neutrophil polymorph and a granuloma?
neutrophil polymorph= acute inflammation
granuloma= chronic inflammation
Acromegaly
Excessive growth hormone resulting in growth of extremities.
