Conditions and extra facts Flashcards
Pyrexia
Increased core body temperature
Acidosis
pH below 7.35
Alkalosis
pH above 7.45
Oedema
Fluid retention
Swollen ankles
Hydrostatic pressure > osmotic pressure
Scurvy
Vitamin D deficiency Defective collagen production Gum disease Bruising of skin Bleeding Poor wound healing
Marfan’s syndrome
Autosomal dominant mutation of the fibrillin 1 gene. Elastic tissue is abnormal Abnormally tall Arachnodactyly Frequent joint dislocation Aortic ruptures
Osteogenesis imperfecta
Brittle bones Defective collagen due to a mutation in the COL1A gene. Weakened bones Short stature Blue sclera Hearing loss
Acute Bronchitis
Cough and mucus production
Breathlessness less than 3 months
Chronic Bronchitis
Chronic inflammation of the bronchi that produces a cough and mucus production that lasts for 3 or more months.
Reduced lung function and breathlessness due to inflammation, swelling and narrowing of the airways
Start of irreparable damage
Emphysema
Shortness of breath due to permanent widening of the air spaces distal to the terminal bronchiole without fibrosis.
Damage to alveoli, loss of elasticity.
COPD
An umbrella condition for chronic and progressive respiratory conditions
Asthma
Wheeze, shortness of breath and chest tightness
Cough that may vary over time
Variable air flow to lungs
Caused by bronchospasms, obstruction by mucus and narrowing of the airways.
Can be random or by a trigger.
Duchenne muscular dystrophy
X linked recessive mutation of the dystrophin gene
Excess calcium enters muscle cell
Calcium taken up into mitochondria
Water goes with it causing it to burst
Muscle cells burst - rhabdomyolysis
Creating kinase and myoglobin released into blood
Muscle cells replaced by adipose tissue Shoulders back when walking Poor balance Weak muscles May walk on toes
Botox injections
Blocks neurotransmitter release at the motor end plate
Causes non contractile state of skeletal muscle
Flaccid paralysis
Clinically used to treat muscle spasms
Used cosmetically for wrinkles
Organophosphate poisoning
Pesticides
Inhibits the normal function of Ach esterase activity at the neuromuscular junction
Can cause SLUDGE if Muscarinic and muscle cramps, tachycardia, weakness, twitching and fasciculation if Nicotinic
Osteoarthritis
Age related degeneration Mechanical failure of articular cartilage - worn away Narrowing of joint space Bones rub against each other Growths may be present - osteophytes Pain and stiffness
Rheumatoid arthritis
Autoimmune disease
Immune system attacks the synovial membrane causing inflammation. This results in a thickened joint capsule. This causes cartilage and bone to degenerate.
This causes pain and stiffness
Rickets
- Mainly affects children
- Vitamin D deficiency
- Poor calcium mobilisation
- Ineffective mineralisation
- Weakened bone development
- Soft bones
- Shortened height and stature
- Painful to walk
- Characteristic bowed legs
Osteomalacia
‘Rickets’ in the adult Vitamin D deficiency
Lower mineralisation
Increased osteoid Increased calcium resorption
Kidney disease - activates vit D
Protection from sunlight - produces vit D
Surgery – Stomach and intestine
Drugs – phenytoin prevents vit D absorption
Osteoporosis
Poor bone mineralisation
Lower bone mass
More prone to fracture
Can be due to lack of oestrogen and drug use
Achondroplasia
• Inherited mutation in the FGF3 receptor gene
• FGF promotes collagen formation from cartilage
(endochondrial ossification affected; intra- membranous ossification unaffected)
• Results in short stature, but normal sized head and torso
• Long bones cannot lengthen properly
Hashimotos
Autoimmune disease
Low T3 and T4 levels
Anti-TPO and anti-TG
Graves
High T3 and T4 levels
Low TSH
TSI and anti-TSH
Multiple Sclerosis
Remitting and relapsing disease Degenerative caused by autoimmune degradation of myelin Fatigue Vision problems Slurred speech Numbness and tingling Mobility issues
Symptoms caused by loss of conduction velocity
Enlarged lymph nodes
As lymph nodes fight infection - germinal centres fill with increasing numbers of lymphocytes causing the lymph nodes to swell
Cancers can metastasise into the lymph nodes causing swelling
Lymphoma is a cancer of the lymph nodes
Lymphoedema
Blockage of lymph vessels or at the node leads to the accumulation of lymph in a particular area.
Psoriasis
Autoimmune disease
Causes keratinocytes to replace arch other faster 2-3 days instead of 28 - 40 days
Ehlers danlos syndrome
Flexible and loose joints
stretchy and fragile skin.
Mutation in collagen production genes.
Structures in the dermis
Arrector pilli muscles Sebaceous glands Pacinian corpuscle Sweat glands Hair follicle Nerves Blood vessels
Primary Active transporters
Sodium potassium ATPase
SERCA
PMCA
Secondary active transporters
Sodium hydrogen exchanger
NCX
Origin of parasympathetic
Horn of medulla and sacral
Origin of the sympathetic
Lateral horn of the lumbar and thoracic
Parasympathetic pre-ganglionic fibres
Long myelinated
Parasympathetic post-ganglionic fibres
Short unmyelinated
Sympathetic pre-ganglionic fibres
Short myelinated
Sympathetic post-ganglionic fibres
Long unmyelinated
Activation of blood vessels
Alpha 1 adrenoceptor
Inhibiton of blood vessels
Alpha 2 adrenoceptors
Stimulation of heat
Beta 1 adrenoceptors
Stimulation of lungs
Beta 2 adrenoceptor
Activation of secretory glands
Muscarinic 1 and 3 receptors
Inhibition of cardiac tissue
Muscarinic 2 receptor
How are cytosolic and membrane proteins directed to the lumen?
Cytosolic and membrane proteins are synthesised by ribosomes. When SRP recognises the leading sequence at the N terminal end it halts progestin synthesis on the ribosome. The SRP is recognised by the signal receptor on the ER membrane. This is part of the protein translocator complex. The protein synthesis is sent though the ore of the translocator. Membrane proteins have a hydrophobic sequence known as the stop transfer signal which stops the movement of the membrane protein. This embeds the newly synthesised protein into the ER membrane.
Activation of smooth muscle
Muscarinic 3 receptors
Bankart’s Lesion
Glenoid labrum is torn off to to the humoral head popping out of the socket
Hill Sach’s Lesion
Identation fracture of the posterolateral humoral head due posterior aspect being pulled into the anterior section of the glenoid fossa.
What causes posterior dislocations
Seizure
Electrical shock
How do posterior dislocations present
Light bulb sign
Which artery and nerve do shoulder dislocations injure?
Axillary nerve and artery
What causes a clavicle fracture?
Falling on an outstretched arm or the shoulder
How do medial clavicle fractures present?
The sternocleiodomastoid muscle elevates the medial segment causing the clavicle to move superiorly
Rotator cuff tears
One or more of the rotator muscle tendons have been torn. This causes compromise to the abduction, and rotation of the shoulder.
Causes of rotator cuff tears
Age related degeneration
Recurrent lifting or overhead activity
Impingement syndrome
The supraspinatus tendon becomes impinged leading to inflammation and irritation. This is caused by narrowing of the space between the humerus and coracocromial arch.
What movements cause pain form impingement syndrome
Abduction
Flexion
Most common impingement form
Impingement of the supraspinatus tendon causing a painful arch
Frozen shoulder
The capsule of the glenohumeral joint has become inflamed and stiff causing chronic pain.
Risk factors for frozen shoulder
Female
Diabetes
Trauma to shoulder
Seizures
What does Volkmann’s ischaemic contracture present as?
The wrist is typically flexed,
The fingers are extended at the metacarpophalangeal joints and flexed at the interphalangeal joints
The forearm is often pronated
Elbow is flexed.
Pulled Elbow - subluxation causes
Falls
Over-reaching for an object
Tugging a child’s arm or swinging them
When is pulled elbow most likely to occur
During pronation as it is more relaxed.
Lateral elbow tendinopathy (‘tennis elbow’) presentation
pain over the lateral epicondyle during extension of the wrist
Medial elbow tendinopathy (‘golfer’s elbow’) presentation
Pain is produced on resisted flexion or pronation of the wrist.
Gout Tophi
Gout is an inflammatory condition resulting from defective purine metabolism leading to an increased production of uric acid. This forms irate crystals in the joints causing pain and nodules to form.
Cubital tunnel syndrome
Ulnar nerve compression
Banging arm on table - sharp transient pain - catching your funny bone.
Prolonged compression causes parasthesia in ulnar cutaneous territory and muscle weakness supplied by the ulnar nerve.
Li-Fraemeni Syndrome
Mutation in one of the p53 genes which can increase the risk of cancer.
Autosomal dominant
People may develop tumours at an early age
Primary Hyperparathyroidism and symptoms
One of the 4 parathyroid glands develops an adenoma and secretes excessive parathyroid hormone.
This causes serum calcium to rise and serum phosphate to fall.
Stones
Moans
Groans
Bones
Symptoms of hypocalcaemia
Tingling
Tetany of muscles
Carpopedal sign
Severe Hypercalcaemia symptoms and treatment
Greater than 3mmol/L Dehydration Renal failure Lethargy weakness Coma
Rehydration is the mainstay of treatment
Secondary Hypercalcaemia causes
Haematological malignancies (e.g. myeloma) and those that metastasize to bone (e.g. Breast, Lung, Renal or Thyroid) produce local factors that act in a paracrine manner to activate osteoclasts.
Squamous tumours of the lung, head and neck produce a hormone, parathyroid hormone-related peptide (PTHrp) that acts at parathyroid hormone receptors.
Jefferson’s Fracture
A fracture of the anterior and posterior arches of the atlas vertebrae (C1).
-diving into shallow water
Hangman’s Fracture
The axis vertebrae (C2) is fractured through the pars interarticularis.
Forcible hyperextension of the head
Fracture of the Odontoid process - Peg’s fracture
Flexion or extension injuries
Common in elderly patients - falling over onto back of head or front.
Whiplash Injury
This is a forceful hyperextension- hyper Flexion injury of the cervical spine.
Damages cervical muscles and ligaments.
Upper brachial plexus injury
Excessive increase in the angle between the neck and shoulder. - trauma or during birth.
C5 and C6 affected
This is cause paralysis to the anterior compartment of the arm.
Limb hangs internally rotated , adducted and extended - Erb’s Palsy.
Injuries to the lower Brachial plexus
Forced hyperextension - falling from height or if a baby’s arm is delivered first.
Nerve roots C8 and T1 are affected
Affects intrinsic muscles of the hand and flexors of the forearm innervated by the ulnar nerve.
Known as Klumpke’s Palsy and it causes a claw hand.
Supracondylar fracture
Falling onto an outstretched arm
Damage to median, ulnar and radial nerves.
Brachial artery damage
Dislocated elbow
Falling onto an outstretched arm.
Most are posterior.
Ulnar collateral nerve damage
Borders of the anatomical snuffbox
Lateral - tendons of abductor pollicis longus and extensor pollicis brevis
Medial - tendon of extensor pollucis longus
Proximal - styloid process of radius
Contents of anatomical snuffbox
Radial artery
Radial nerve
Cephalic vein
Guyon’s Canal contents
Ulnar nerve and artery
Scaphoid fracture
FOOSH
Pain in anatomical snuffbox
These can result in avascular necrosis
Colle’s fracture
Extra-articular fracture of the radius in a dorsal angulation. Association with stolid fracture FOOSH, wrist in dorsiflexion Dinner fork deformity Median nerve damage
Smith’s Fracture
Fracture of the distal radius with palmar angulation.
Less common than colle’s
Garden spade deformity
Can lead to carpal tunnel syndrome
X ray features of RA
Joint space narrowing
Periarticular osteopenia
Juxta-articular (also called marginal) bony erosions
Subluxation (partial dislocation) and gross deformity
Swan neck deformity is associated with RA what occurs
PIPJ hyperextend
MCPJ and DIPJ are flexed
Boutonnière deformity can be seen in RA what is seen
MCPJ and DIPJ are hyperextended while PIPJ is flexed.
Dupuytren’s Contracture
Thickening and contracture of the palmar aponeurosis leading to flexion of the finger.
Supracondylar fracture effect on median nerve - high nerve injury
Paralysis to hand muscles and anterior forearm muscles
Weak wrist flexion
Slight adduction due to flexor carpi ulnaris
Paralysis of thenar muscles
Flexor digitorum profundus and radial lumbricals paralysed
Hand of benediction when told to make a fist
Injury to median nerve at wrist
Thenar muscles and radial lumbricals paralysed
Muscle atrophy
Ape hand deformity
Ulnar nerve injury at wrist
Hypothenar muscles, lumbricals of medial are paralysed
This can cause the appearance of a claw hand.
MCPJ hyperextended and flexed at the IPJ.
Sensation is only lost over the ulnar 2 fingers
High ulnar injury
Medial epicondylar fracture or compression of cubital fossa
As well as hand muscles there is also paralysis of flexor carpi ulnaris and the ulnar half of flexor digitorum profundus.
All sensation lost of the ulnar cutaneous region
Claw is less pronounced - No Flexion at the DIPJ
Perthes’ Disease
Childhood disorder when the blood supply to the head of the femur is temporarily disrupted. This can cause avascular necrosis of the head of the femur
Slipped Epiphysis
The head of the femur slips down the neck of the femur in children and teens.
Epstein Barr virus
EBV is a dsDNA enveloped virus that remains latent in B cells
Can cause Hodgkin’s Lymphoma - Red stern berg cells
Ebola
Viral haemorrhagic fever
Filovirus
Flu like symptoms
High mortality
Acute Rheumatic Fever
Inflammation of the heart, joints and CNS
Follows on form pharyngitis caused by strep pyogenes
Sarcoidosis
Causes granulomatous inflammation
Non caseating
Peripheral arterial disease
Caused by atherosclerosis
Exercise induced
Pain goes away at rest
Claudication
Huntington’s Disease
Fork Slippage leads to trinucleotide expansion
This causes mutant hunting in protein to form
This aggregates in neurones in the basal ganglia
Progressive - late onset
Thrombophlebitis
Inflammatory process resulting in the formation of a blood clot in the vein of the leg.
Myeloproliferative neoplasm
Myeloproliferative neoplasms are a group of rare blood cancers in which excess red blood cells, white blood cells or platelets are produced in the bone marrow.
This generally due to a mutation in the JAK2
Meralgia Paresthetica
Compression of the lateral cutaneous nerve as it passes through the inguinal ligament
Generally due to obesity, pregnancy or wearing tight clothes
Stinging sensation in anterolateral thigh
Hypoplastic Left heart
Underdeveloped left heart
Right ventricle has to support the systemic circulation
Must be a PFO or ASD to shunt blood from right to left
Surgery is required
Ventricular Tachycardia
This is an run of 3 or more consecutive ectopic ventricular contractions.
High risk of progression to VFIB.
Wide QRS
Megaloblastic anaemia
A deficiency in folate or B12 resulting in poor DNA synthesis resulting in lack of production of RBC.
Septic shock
This is a profound drop in blood pressure requiring treatment to maintain BP despite fluid resuscitation
Myasthenia Gravis
Autoimmune disorder
There are antibodies that bind to ACh receptors blocking ACh. This causes reduced synaptic transmission.
Intermittent muscle weakness
Ptosis - drooping eyelid
Multiple Sclerosis
Remitting and relapsing disorder
Degenerative and caused by autoimmune degradation of myelin
Causes - fatigue, visual problems, slurred speech, mobility problems
This is due to a loss of conduction velocity
Duchenne Muscular Dystrophy
X linked recessive
Mutation of the dystrophin gene
This causes excess Ca2+ to enter the cells
Calcium uptake by mitochondria and water follows
Mitochondria burst
Rhabdomyolysis
Creatine kinase and myoglobin levels in blood are high
Muscle cells replaced by adipose tissue
Botox injections
Toxin blocks neurotransmitters release at the motor end plate
Causes non-contractile state of skeletal muscle
Organophosphate poisoning
Inhibits normal function of Ach esterase.
This leads to overstimulation of Ach receptors
Muscarinic - SLUDGE
Nicotinic - MTWTF
Malignant Hyperthermia
Severe reaction to anaesthetics
Muscles become rigid due to increase in calcium
Excessive heat and acidosis
Muscle break down
High potassium released as well as myoglobin
