Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
259 Cards in this Set
- Front
- Back
- 3rd side (hint)
|
Turner Syndrome (Monosomy X)
|
45X: Female lacks XX
Paternal Nondisjunction Incomplete development at puberty (flat chest, sparse pubic hair) Short stature <5 ft "Hugs and Kisses" (XO) from Tina TURNER (female) |
|
|
|
Klinefelter Syndrome
|
47XXY
Both maternal or paternal nondisjunction Males have an extra X chromosome Male hypogondadism (breasts, female body hair distribution, small penis, large hips, etc) |
|
|
|
What type of translocation causes downsyndrome, monosomy 21, or monosomy 14?
|
Robertsons Translocation (acrocentric)
|
|
|
|
Osteoperosis
|
Loss of bone density due to reabsorption of calcium and phosphate from bones
Leading cause is a drop in estrogen during menopause No labs |
|
|
|
Osteopetrosis
|
"Stone bone;" abnormal bone density/hardening
Caused by osteoclast dysfunction; i.e. osteoblasts make more bone than osteoclasts absorb Erlenmeyer flask deformity No labs |
|
|
|
Pagets Disease
|
Excessive bone breakdown/repair via hyperactivity of osteoblasts and osteoclasts leads to abnormal architecture
Marked increase in ALP |
|
|
|
Osteomyelitis; most common causative organism
|
S. aureus and osteomyelitis
|
|
|
|
Neissseria gonorrhoeae (rare)
|
A sexually promiscuous patient presents with osteomyelitis - what is the likely causative organism?
|
|
|
|
Pseudomonas aerguinosa
|
A diabetic patient with a history of drug abuse presents with osteomyelitis. What is the most likely causative organism?
|
|
|
|
Salmonella
|
A patient presents with osteomyelitis after eating old, contaminated food. Blood examination reveals sickled erythrocytes. What is the causative organism?
|
|
|
|
S. aureus and S. epidermidis
|
A patient with a prosthetic leg, and arm presents with osteomyelitis. What are the two most likely causative organisms?
|
|
|
|
Verbebral osteomyelitis; potts dx via TB
|
A patient presents with vertebral tenderness and a history of TB
|
|
|
|
Osteomyelitis via pastuerella multocida cat/dog bites or scratches
|
A patient presents with bone pain and was recently scratched by a cat and then bitten by a dog.
|
|
|
|
Bone formation from active osteoblast activity (Pagets)
|
A patient presents with high ALP. What does this indicate?
|
|
|
|
Osteitis Fibrosa Cystica; PTH causes bone breakdown turning them soft
|
A patient presents with brown tumors in his bones and a history of hyperparathyroidism.
Labs: Increases serum Ca, decreased phosphate, increased ALP, increased PTH |
|
|
|
Osteomalacia/rickets
|
Vitamin D deficiency; can't absorb Ca from gut; soft bones
Labs: Decreased serum Ca, decreased serum phosphate, increased PTH |
|
|
|
Scurvy
|
Vit C deficiency which is necessary to make collagen
Patient has swollen gums, bruising, anemia, poor wound healing due to impaired collagen formation |
|
|
|
CNS/PNS origins
|
Neuroectoderm -> CNS
Neural crest -> PNS Mesoderm -> microglia (macrophages of CNS) |
|
|
|
Gout
|
Painful MTP joint (classic)
Attack after large meal or alcohol consumption (alcohol metabolites compete for uric acid secretion sites) Crystals are needle shaped and NEGATIVELY BBIREFRINGENT (yeLLow crystals under paraLLel light) |
|
|
|
Probenecid
|
Increases uric acid excretion by prolonging the effects of colchicine in the urine
|
|
|
|
Februxostat
|
Xanthine oxidase inhibitor to tx gout
|
|
|
|
Allopurinol
|
Xantine oxidase inhibitor; contraindicated in pts with renal failure or allergic reactions
|
|
|
|
The effect of diuretics and low dose aspirin on uric acid excretion
|
Inhibits tubular secretion of uric acid
|
|
|
|
The effects of high dose asprin on uric acid excretion
|
Inhibits tubular reabsorption
|
|
|
|
Pseudogout
|
Collection of calcium pyrophosphate dihydrate (CPPD); presents same as gout; rhomboid crystals under microscope (NOT NEEDLES); weakly positively birefringement; classically effects knee; yellow when perpendicular and blue when parallel to light (opposite of gout)
|
|
|
|
Colchicine
|
Inhibits microtubule formation necessary for inflammation
|
|
|
|
Glucocorticoids
|
Inhibit inflammation via AA to COX
|
|
|
|
Anakinra
|
IL-1 receptor antagonist; inhibits inflammation; tx for gout or rheumatoid arthritis
|
|
|
|
AIRE Gene mutation
|
Mature lymphocytes not correctly screened for self reactivity
|
|
|
|
IPEX
|
FOXp3 mutation; dysfunction of Treg cells; autoimmunity
|
|
|
|
Ankylosis Spondylitis
|
Bamboo spine and uveitis
HLA-B27 = MHC allele affected |
|
|
|
Juvenile Rheumatoid Arthritis
|
A child younger than 16 presents with morning stiffness and pain.
Labs are ANA + |
|
|
|
SLE
|
A african american female presents with joint pain, a malar rash, and anemia.
Labs show: ANA + (sensitive but not specific) anti-dsDNA (specific, poor prognosis) Anti-smith ab (specific but not prognostic) Antihistone antibodies (drug induced lupus) |
|
|
|
SLE proposed mechanism
|
UV radiation mediated apoptosis of cells -> nuclear Ag taken up by B/T cells specific for self Ag (failure of self tolerance) -> ANA complex endocytosed -> propogation of antinuclear IgG Ab production
|
|
|
|
Gonococcal Arthritis (Lacks O antigen)
|
A patient presents with arthritic pain via Synovitis, Tenosynvisits, Dermatitis (STD) that is monoarticular, migratory, and asymmetrical.
|
|
|
|
Fungal causes of arthritis
|
Blastomyces dermatitis (Blasts spore bullets into the mississippi)
Coccidioides immitis (Joaquin Phoenix cocks his gun, shoots spore bullets at target tissue in the southwest) |
|
|
|
Subcutaneous Fungal Infections
|
Sporothrix chenkii (Rose gardners disease; daisy petal presentation)
|
|
|
|
Causes of chronic arthritis
|
Lyme disease, TB (from mycobacterial dissemination)
|
|
|
|
Osteoarthritis; Mechanical wear/tear of joints leading to destruction of articular cartilage
|
A patient presents with pain in knee at the end of the day; improves with rest; the knee does not appear inflamed.
|
|
|
|
Most common cancers in men and women
|
Men: Lung, colon, prostate
Women: Lung, Breast, Colon |
|
|
|
Harmatoma
|
Composed of normal tissue elements from the site but in a disorganized mass
|
|
|
|
Choristoma
|
Normal tissue in abnormal locations
|
|
|
|
Hyperplasia
|
Increase the number of cells
|
|
|
|
Anaplasia
|
"reverse differentiation" cells lose components; hallmark of malignancy
|
|
|
|
Metaplasia
|
Replaced one type of cell with another type of cell
|
|
|
|
Carcinoma in situ
|
cancerous but hasn't invaded
|
|
|
|
Osteoma
|
An MRI scan of a patient's head reveals a new piece of bone growing on their sinus bone.
|
|
|
|
Osteoid osteoma; small often in proximal tibia/femur; most common in men <25 y/o
|
A 25 year old patient presents with bone pain at night that is helped by asprin. An MRI scan of the proximal femur reveals trebeculae of woven bone surrounded by osteoblasts
|
|
|
|
Osteoblastoma; presents same as osteoid osteoma but in the spine and the tumor is much LARGER
|
A 25 year old patient presents with back pain at night helped by asprin. An MRI reveals trebeculae of woven bone surrounded by osteoblasts in the vertebrae.
|
|
|
|
Giant cell tumor (osteoclastoma)
|
Tumor at epiphyseal plates; usually around knee region (limited range of motion); spindle shaped cells with multinucleated giant cells
|
|
|
|
Osteochondroma
|
MOST COMMON BENIGN BONE TUMOR
Mature bone with cartilaginous cap (shroom); originates from long metaphysis "chron eats shrooms" |
|
|
|
Endochondroma
|
Cartilage cyst found in bone marrow; benign; distal extremities
|
|
|
|
aneurysmal bone cyst
|
Blood filled cavity in bone
|
|
|
|
Osteosarcoma; por prognosis
|
An x ray reveals bone formation in a tumor has raised the periosteum; Codman's triangle/sunburst pattern from elevation of periosteum on x-ray
|
|
|
|
Ewing's Sarcoma
|
An Xray on a teenage patient shows anaplastic small blue cell malignant tumor with an "onion skin" appearance ("going out for Ewings and onion rings"); 11/22 translocation (11+22 = 33 which is Patrick Ewing's jersey number)
|
|
|
|
Chondrosarcoma
|
Malignant cartilaginous tumor; most common in men age 30-60; expansile glistening mass within the medullary cavity
|
|
|
|
Brown Sequard Syndrome; Hemisection of spinal cord above T1 (bc of Horners)
|
Patient presents with ipsilateral loss of proprioception, contralateral loss of spinothalamic (pain/temp) and Horner's syndrome.
|
|
|
|
Tabes Dorsalis; degeneration of dorsal columns due to syphillis resulting in impaired proprioception and locomotor ataxia.
|
Patient presents with Charcot's joints, shooting pain, absence of DTRs, positive Romberg, and sensory ataxia at night. Patient also has "Argyll Robertson" pupils, known as prostitutes pupils. Patient has a history of syphillis.
Degeneration of dorsal columns due to syphillis; impaired proprioception and locomotor ataxia (positive Romberg); Charot's joints |
|
|
|
UMN Signs
|
Everything up (higher muscle tone, higher reflexes, higher toes in babinski)
|
|
|
|
LMN Signs
|
Everything lowered
(decreased muscle mass/tone, decreased reflexes, downward toes/normal babinski) |
|
|
|
Trendenlenberg Sign
|
When standing on one leg, the pelvis drops on the side opposite to the stance leg.
|
|
|
|
Meralgia paraesthetica; Compression of lateral femoral nerve by inguinal ligament
|
Patient presents with loss of sensation on lateral thigh. Patient notes she has gained 10 pounds recently and her jeans are fitting particularly tight.
|
|
|
|
Lipoma
|
Soft, well-encapsulated fat sumor; benign; simple excision is usually curative
|
|
|
|
Liposarcoma
|
Fat cell tumor; presence of lipoblasts
|
|
|
|
Keloid
|
Scar tissue overgrowth (keloid beard)
|
|
|
|
Nodular Fascitis
|
Back Button
|
|
|
|
Fibromatosis
|
Benign
Often on hand, foot, or dick (puts a kink in dick) |
|
|
|
Fibrosarcoma
|
Spindle cells w/ interlacing fasicles
"HERRING PATTERN" - deep tissue in extremities |
|
|
|
Benign Fibrous Histiocytoma
|
Giant cells, fibrous tissue w/ spiral pattern; often found in leg or pelvis
|
|
|
|
Malignant Fibrous histiosarcoma
|
"wastebasket diagnosis" for sarcomas;
Multinucleated storiform fibrous tissue |
|
|
|
Leiomyoma
|
Smooth muscle tuomrs (benign)
|
|
|
|
Leiomyosarcoma
|
Cancerous smooth muscle tumor w/ malignant features histologically
|
|
|
|
Rhabdomyoma
|
Benign skeletal muscle tumor
|
|
|
|
Rhabdomyosarcoma
|
Malignant skeletal muscle tumor
|
|
|
|
Hemangioma
|
Increased number of blood vessels in one area results in massive, raised tumor filled with blood; often on face/neck of babies
|
|
|
|
Kaposi Sarcoma
|
Irregular blood vessels cause extraversion of RBC " dotted car steering wheel); looks like alot of little bruises
|
|
|
|
Angiosarcoma
|
Malignant neoplasm of epithelial cells in vessel walls (blood or lymphatic); abnormally dense vessels; malignant features; RBC extraversion leads to bruised like appearance
|
|
|
|
Synovial Sarcoma
|
Large swelling near joints, though may not actually be from syonvial tumors; imagine a wrist swelling up and bursting from synovial fluid
|
|
|
|
Kirby Bauer Test
|
Bacterial "lawn" cultured; antibiotic discs placed in lawn; zone of inhibition measured; larger ZI correlates with decreased MIC
|
|
|
|
Steps for an acid fast stain (all mycobacterium including TB and m. leprae)
|
1. flood slides w/ carbol fuschin while heating sample (wash w/ water)
2. Add decolorizer (acid-alcohol destain) (wash w/ water) 3. Counter stain w/ methylene blue (wash w/ water) Bacteria stains red because is resistant to the decolorizer after acid stains mycolic acid |
|
|
|
Epiflourescent microscopy (direct vs indirect)
|
Both similar to ELISA
Indirect: Ab to cell, Tagged Ab to first Ab Direct: Tagged Ab to cell |
|
|
|
What must be done to be cleared for work if positive for TB?
|
3 sputum samples negative for acid fast bacteria must be documented
|
|
|
|
Antimycin
|
Binds to cytochrome c reductase (III), inhibits formation of protoon gradient, inhibits ATP formation
|
|
|
|
Oligomycin
|
Inhibits ATP synthase; can result in high blood lactate levels
|
|
|
|
Amobarbital, rotenone,
|
Prevents NADH conversion into ATP in complex I (iron-sulfer transfers e' to ubiquinone normally)
|
|
|
|
Piercidin A
|
Inhibhits NADH dehydrogenase
|
|
|
|
Uncoupling Agent
|
Carries protons across membrane and dissipated proton gradient; rapid consumption of energy w/o generating ATP; it's a thermogi; found in brown fat (nonshivering thermogenesis)
Found in brown fat (hibernation) |
|
|
|
Net products of oxidative phosphorylation
|
34
|
|
|
|
Net products of substrate level phosphorylation
|
2 ATP + 2 GTP
|
|
|
|
Horners Syndrome
Lesion of spinal cord above T1 (pancoasts tumor, Brown Sequard syndrome, late stage syringiomyalgia) |
Patient presents with the following triad of symptoms:
Ptosis (dropping of eyelid) Anhidrosis (absence of sweating) Miosis (pupil constriction) |
|
|
|
Horners Syndrome Circuit
|
Hypothalamic to intermediolateral column of spinal cord -> synapses, out of spinal cord asends through sympathetic paravertebral ganglion, synapses in superior cervical ganglion -> innervates pupil, smooth muscles of eyelids, sweatglands of forehead and face
Interruption anywhere in this circuit can produce horners syndrome |
|
|
|
Central Horners Syndrome
|
Same as horners syndrome but also with anhydrosis on entire half of body
|
|
|
|
What principle does lidocaine and procaine follow?
|
Use dependent inhibition; they bind most effectively to open channels, so increased firing = increased inhibition
|
|
|
|
TTX (Pufferfish), STX (Redtide)
Both are sodium channel blockers |
Patient recently ate pufferfish at a japanese restraunt and then went swimming in red tinged water. What two toxins are highly suspect for the patient's subsequent paralysis?
|
|
|
|
TEA
|
Potassium channel blocker
|
|
|
|
How do you fire an action potential during the relative refractory period?
|
The stimulus for a second AP must be greater than the original
|
|
|
|
Botulism Toxins
|
Flaccid paralysis; inhibits released of acetylcholine at presynaptic neuron
|
|
|
|
Conotoxin
|
Inhibits calcium channels inhibiting vesicle binding inhibiting neurotransmitter release
|
|
|
|
Dendrotoxin
|
K channel blocker
|
|
|
|
m. leprae; peripheral nerve disease; (likes cool temp which is why it infects skin)
|
Patient presents with a loss of eyebrows, nasal collapse, lumpy earlobe
Labs show an acidfast mycobacterium bacillus |
|
|
|
Borrelia burgdorferi
|
Peripheral nerve disease
Transmitted via tick Ixodes Bulls eye rash w/ central clearing, affects CNS, joints, heart Named after LYME connecticut; dx is common in northeastern united states "BAKE a Key Lyme pie" Bell's palsy, Arthritis, Kardiac block, Erythema migrans |
|
|
|
Herpes Zoster Virus
|
Peripheral nerve disease along dermatonal patterns; can also cause post herpatic neuralgia/neuronal sequellae
dna virus, enveloped, capsid |
|
|
|
HIV and peripheral nerve disease
|
Peripheral neuropathy due to infections and toxin
|
|
|
|
B12 Deficiency; Abnormal myelin
It can cause subacute combined degeneration of spinal cord |
Patient presents with neurologic symptoms, generalized weakness, and decreased hematocrit. What is going on?
|
|
|
|
B1 Deficiency; Impaired glucose breakdown -> ATP depletion; decreased ATP -> Korsakoffs and beriberi
"Ber1Ber1' |
This vitamin deficiency is seen in malnutrition and alcoholism
|
|
|
|
Wernicke-Korsakoff
|
An elderly patient with a history of alcoholism presents in the ER with confusion, opthalmoplegia, ataxia, memory loss, and confabulation.
|
|
|
|
B1 Deficiency
|
Impaired glucose breakdown -> ATP depletion; decreased ATP -> Korsakoffs and beriberi
Seen in malnutrition and alcoholism "Ber1Ber1" |
|
|
|
Arsenic Poisoning Hallmarks
|
A patient presents with dew drop palms, and white nail lines
|
|
|
|
Wernicke-Korsakoff
|
confusion, opthalmoplegia, ataxia + m emory loss, confabulation
|
|
|
|
Lead poisoning hallmarks
|
A patient presents with BLUE gums
|
|
|
|
Arsenic Poisoning Hallmarks
|
Dew drop palms, white nail line
|
|
|
|
Drug induced neuropathy
|
A patient presents with bilateral distal neuropathic symptoms. What is the likely etiology?
|
|
|
|
Lead poisoning hallmarks
|
BLUE gums
|
|
|
|
Drug induced neuropathy
|
BIlateral distal symptoms
|
|
|
|
Guillain Barre Syndrome; Inflammation and demyelination of peripheral nerves and motor fibers of ventral roots
Molecular mimicry from campylobacter jejuni Respiratory support critical until recovery; additional tx w/ plasmapharesis or IV IgG |
Patient presents with symmetric ascending muscle weakness beginning at feet. They report a bout of GI distres and diarrea two weeks prior.
|
|
|
|
Chronic inflammatory demyelinating polyneuropathy
|
Idiopathic -> demyelination
Patient presents with ascending bilateral weakness but w/o a history of infection. Labs do not show oligoclonal bands. Also RESPONSIVE TO STEROIDS |
|
|
|
Diabetic Neuropathy
|
Hyperglycemia -> increase PKC -> neural dysfunction
|
|
|
|
Paradoxical nature of lidocaine or carbamzine
|
A little bit of lidocaine can inhibit arrythmias but too much can cause them
A little bit of carbamezine can inhibit seizures but too much can cause them Both sodium channel blockers |
|
|
|
Gabapentin
|
GABA analogue; thought to inhibit calcium channels
|
|
|
|
Capsaicin
|
Competitive inhibition of substance P
|
|
|
|
Substance P
|
Increases inflammation and pain
|
|
|
|
Misoprostol
|
Tx NSAID gastropathy (prevention and treatment)
Synmthetic E1 increases the bicarbonate barrier in the gut lining |
|
|
|
NSAIDS and pain
|
Good for SHARP pain; but have a ceiling effect
|
|
|
|
Acetominophen Uses
|
Inhibited by inflammation so does NOT control inflammation; only analgesic + antipyretic
|
|
|
|
Opiod Uses
|
Continuous, aching pain (soft tissue or visceral injury)
|
|
|
|
Why cant you use opioid to decrease labor pain?
|
Decrease babies breathing
Can use 50% NO/50% O2 |
|
|
|
Rubrospinal tract controls what...
|
It is the main route for the mediation of voluntary movement. It is responsible for large muscle movement such as the arms and the legs as well as for fine motor control. It facilitates the flexion and inhibits the extension in the upper extremities (see decorticate posture).
Upper limb flexors |
|
|
|
Tectospinal tract controls what...
|
coordinates head and eye movements
neck muscles |
|
|
|
Lateral vestibulospinal tract controls what
|
It projects ipsilaterally down to the lumbar region of the spinal cord. There it helps to maintain an upright and balanced posture by stimulating extensor motor neurons in the legs.
Upper and low limb extensors |
|
|
|
Reticulospinal tract controls what
|
1. Integrates information from the motor systems to coordinate automatic movements of locomotion and posture.
2. Facilitates and inhibits voluntary movement, influences muscle tone. 3. Mediates autonomic functions |
|
|
|
Parinaud Syndrome
A. Dorsal midbrain on diagram |
A patient presents with paralysis of conjugate vertical gaze.
An MRI reveals a lesion in the superior colliculi. |
|
|
|
Benedikt's Syndrome from a midbrain stroke involving the third nerve as it travels near the red nucleus.
B. Middle of midbrain |
A patient presents with unilateral third nerve palsy with contralateral ataxia
|
|
|
|
Weber's Syndrome
IL CNIII palsy (corticobulbar) CL hemiparesis (corticospinal) C. Destruction of peduncle at bottom of midbrain |
A patient presents with unilateral third nerve palsy, contralateral hemiparesis.
|
|
|
|
Bielschowskys Sign
|
Tilting of head to affected side for a CNIV lesion to compensate for slight torsion of eyes
|
|
|
|
What are the 3 classic mid brain syndromes?
|
Parinards (Dorsal)
Benedikts (Middle) Webers (Ventral) |
|
|
|
Medial Inferior Pontine Syndrome (Foville)
Abducent (VI) palsy produces the internal strabismus; contralateral hemiparesis from corticospinal tract involvement in ventral pons |
A patient presents with strabismus, loss of contralateral proprioception and sensation.
|
|
|
|
Caudal Basis Pontis syndrome (millard gubler syndrome)
1. Contralateral hemiplegia (sparing the face) due to pyramidal tract involvement 2. Ipsilateral lateral rectus palsy with diplopia that is accentuated when the patient looks toward the lesion, due to cranial nerve VI involvement. 3. Ipsilateral peripheral facial paresis, due to cranial nerve VII involvement. |
A patient presents with contralateral hemiplegia, ipsilateral lateral rectus palsy with diploplia and ipsilateral facial paresis.
|
|
|
|
Two classic pontine syndromes?
|
Medial inferior pontine syndrome (foville)
Caudal Basis Pontis Syndrome (millard gubler) |
|
|
|
Medial Medullary Syndrome
"Lick the lesion" CL hemiparesis/plegia from corticospinal fibers of the pyramidal tract |
A patient presents with a tongue that deviates to one side upon protrusion and contralateral hemiparesis and hemiplegia.
|
|
|
|
Lateral Medullary Syndrome
|
1. Ipsilateral ataxia from inferior cerebellar peduncle damage
2. CL loss of pain/temp 3. Dysphagia, horaseness, diminished gag reflex from nucleus ambiguous involvement (effects X, IX) |
|
|
|
Locked in Syndrome
Infarct of basilar artery over pons |
Patient presents with bilateral loss of facial muscle innervation and sensory innervation (V)
Bilateral UMN spastic hemiparesis or hemiparalysis |
|
|
|
ALS
ventral horn and lateral columns deteriorate (motor locations); |
Patient presents with combined UM and LM neuron deficits with NO sensory deficits;
|
|
|
|
Multiple Sclerosis
Charcot's classic triad of MS is a SIN (scanning, Intention tremor/incontinence, nystagmus) |
Scanning Speech
Intention tremor (Incontinence, Internuclear opthalmoplegia) Nystagmus Oligoclonal bands, increased IgG in CSF, MRI (PERIVENTRICULAR PLAQUES) Random white matter plaques Type IV self reactivity |
Tx: B-interferon or immunosuppressant therapy
|
|
|
Myasthensia Gravis
Most common NMJ disorder Autoantibodies to postsynaptic AChR cause ptosis, diplopia, and general weakness Associated w/ thymoma Symptoms worsen w/ muscle use |
Patient presents with ptosis, diplopia when going down stairs and generalized weakness that worsens with muscle use. The patient has a history of thyroid cancer.
|
Tx w/ acetyl-cholinesterase inhibitors
|
|
|
Lambert-Eaten Syndrome
Autoantibodies to presynaptic Ca2+ channels; decreased ACh releasd leading to proximal muscle weakness No reversal of symptoms w/. AChE inhibitors alone |
Patient presents with proximal muscle weakness and with no extraocular muscle involvement. The weakness improves with use.
|
|
|
|
Polymyositis
Progressive symmetric proximal muscle weakness caused by CD8+ T cell induced injury to myofibers. Most often involves shoulders. Biopsy is diagnostic. Tx w/ steroids |
Patinet presents with symmetric proximal muscle weakness in the shoulders and upper legs.
Muscle biopsy reveals evidence of inflammation. |
|
|
|
Dermatomyositis
Similar to polymiositis BUT also has malar rash (like SLE); heliotrope rash; "shawl and fae" rash; Gottron's papules; "MECHANICS HANDS" increased risk of malignant POSITIVE ANA and ANTI-Jo-1 |
Patinet presents with symmetric proximal muscle weakness in the shoulders and upper legs. The patient also has a malar rash and "mechanics" hands. Labs are positive for ANA and Anti-Jo-1
Muscle biopsy reveals evidence of inflammation. The patient appears responsive to steroids. |
|
|
|
Poliovirus; ss(+) RNA icosahedral;
Replicates in tonsils and peyers patches of gut; spreads to CNS through bloodsream to destroy ventral spinal cord LMN |
Patient presents with fever, nausea/vomiting, abdominal pain , sore throat, LMN signs in the legs
Virus can be recovered from stool or throat |
|
|
|
Characteristics of the two types of poliovaccine
|
1. Inactivated poliovaccine (IPV); formalin killed viruses -> IgG Ab immunity
2. Oral poliovaccine (OPV) - live attenuated virus -> IgG and IgA immunity; associated w/ paralytic poliomyelitis (can spread to secondary contacts like parents) |
|
|
|
Flavivirus/Alphavirus
|
SS+ Linear Icosahedral
Can potentially cause poliomyelitis via west nile or yellow fever |
|
|
|
Human T-Lymphotropic Virus
|
Latent 20-30 years
Causes tropical spastic paralysis or acute T cell leukemia/lymphjoma Presents as UMN dx w/ demyelination |
|
|
|
Diptheria
If infects palate -> oculomotor/ciliary paralysis If infects pharynx -> peripheral neuritis |
A patient presents with ciliary paralysis and peripheral neuritis.
Labs reveal gram + rods with metachromatic granules. |
|
|
|
Tetanus Toxin
|
Removes the inhibition of inhibitory neurons (GABA or Glycine) causing muscle contraction/lock jaw
|
|
|
|
3 Lever Systems in the Body w/ anatomical examples
|
Class 1: Tricep extension; seesaw
Class 2: Tip toes; wheelbarrow Class 3. Bicep curls; tweezers |
|
|
|
Rigor Mortis
|
Decreased ATP in the body = no myosin/actin decoupling b/c there's no Ca2+ ATP pump to decrease Ca intracellularly in muscle = sustained muscle contraction
|
|
|
|
Red Muscle
|
"one slow red ox"
Type I Slow sustained contractions Red because of high myoglobin content/high capillary density/high mitochondria content Oxidative |
|
|
|
White Muscle
|
Large diameter, glycolytic, low myoglobin, low capillary density, low mitochondria, high glycolytic enzyme content
|
|
|
|
Muscle Banding memory trick from M and Z line
|
MHA!
ZI! Maserati = "MHAZIrati" |
|
|
|
Duchenne's Muscular Dystrophy (DMD)
|
Duchenne's = Deleted Dystrophin
Xlinked frameshift mutation -> dystrophin deletion -> accelerated muscle breakdown Gower's maneuver b/c of weakness in pelvic girdle/lower half - onset before age 5 Dx? |
Increase CPK and muscle biopsy
|
|
|
Becker's Muscular Dystrophy
|
X linked
Same as DMD but dystrophin gene is shorter instead of lacking, thus it is less severe; onset in adolescence or early adulthood |
Dx w/ increase in CPK and muscle biopsy
|
|
|
Limb Girdle Muscular Dystrophy
AR or AD mutation in sarcoglycan genes leads to sarcoglycan protein mutations -> weakness or wasting at hips and shoulders (girdle/limb) |
Patient presents with weakness and wasting at the hips and shoulders
|
|
|
|
Emery Dreifuss Muscular Dystrophy
|
Mutation in emerin (EMD1) gene or Lamin A. (LMNA)
Contractures at elbows and ankles; cardiac dx common |
|
|
|
Function of glycogen phosphorylase
|
Breaks up glycogen into glucose subunits
|
|
|
|
AMP Deaminase Deficiency
Can't convert AMP to IMP (which usually frees up an ammonia molecule in the process) |
Presentation is weakness/muscle fatigue/pain upon exertion
|
|
|
|
Carnitine Palmitoyl Transferase Deficiency
Carnitine Transferase moves fatty acids into the mitochondria; |
Patient presents with hypoglycemia w/ fatigue that is exercise induced
|
|
|
|
Rhabdomyolysis
|
Lysis of myocytes due to a decrease in membrane integrity from a decrease in ATP availability
CREATINE is an indicator for muscle function CREATININE is an indicator for kidney function damaged muscle = increased CK + increased myoglobin |
|
|
|
How do you treat melanoma?
|
surgical excision - treatment of choice
lymph node excision chemotherapy immunotherapy |
|
|
|
Tauri's Disease
Phosphofructokinase Deficiency Same as McArdle's BUT there is an elevated exercise intolerance following high carb meals (bc can't break down carbs) |
Patient complains of exercise intolerance following high carb meals.
|
|
|
|
Phosphofructokinase
|
Phosphorylates G6P during glycolysis; key regulatory step
|
|
|
|
Satellite Cells
|
Sandwiched between basement membrane and sarcolemma of individual muscle fibers; in response to strain/damage satellite cells are activated and initially proliferate as skeletal myoblasts before undergoing myogenic differentiation
|
|
|
|
Muscle histology before and after nerve damage
|
Normal innervated muscle = checkerboard pattern of red and white muscle
Cut nerve = angled (triangular) muscle pattern/fibers Muscle reinnervated (via schwann cord growth) = grouped fibers (half and half) |
|
|
|
Mytonic dystrophy
(cTg); trinucleotide repeat expansion disease demonstrates ANTICIPATION |
Patient presents w/ cataracts, myotonia (slow relaxing of muscles after voluntary contraction), and wasting of the muscles.
Looking at a muscle biopsy you see a train of nuclei and ring fibers. The patient asserts his father had the same problem but not as bad as he did. |
|
|
|
Hyperkalemic Periodic Paralysis
|
SCN4A mutation -> mutated regulation of Na channels
Inherited channelopathy High K levels inhibit sodium channel activation Proximal weakness |
|
|
|
Malignant Hyperthermia
|
Inherited disease that causes a rapid rise in body temp (fever) and severe muscle contractions
RyR1 mutation produces uncontrolled Ca2+ release which results in tetany and high muscle metabolism |
|
|
|
Congenital Myopathy
|
Present at birth; no progression or inflammation seen
Ex: Hypotonia, arthrogryposis (multiple joint contractures/muscle weakness) central core disease |
|
|
|
Central Core Disease
A type of congenital myopathy; hypotonia at birth, AD |
A baby is born with global muscle weakness. Using a NADH stain you try to visualize the cytoplasmic type 1 muscle fiber cores but note that these are devoid of mitochondria.
|
|
|
|
Nemaline Myopathy
|
A type of congenital myopathy
"Nemaline rods" in type 1 fibers which are abnormal thread like rods in muscle cells |
|
|
|
Centronuclear Myopathy
|
A baby is born with muscle weakness. A muscle biopsy reveals that the cell nuclei are located in the middle of skeletal muscle cells instead of at the periphery
|
|
|
|
Lipid Myopathies
|
Carnitine Transferase to mitochondria
|
|
|
|
Thyrotoxic Myopathy
|
Hypothyroidism = proximal weakness + 10x increase in CK
Hyperthyroidism = proximal weakness + atrophy + fasciculations |
|
|
|
Cushing Syndrome
|
High cortisol in blood caused by steroids, type II muscle atrophy
|
|
|
|
Chloroquine Side effects
|
Used to treat malaria; can cause myopathies
|
|
|
|
Groton Lesions
|
A patient has red patches on elbows, knees knuckles. He has a history of dermatomyositis.
|
|
|
|
Inclusion body myopathy
|
A patient presents with progressive muscle weakness/wasting. A biopsy reveals amyloid deposit in the midle of vacuoles
The patient does not respond to immunosuppresion |
|
|
|
Neuromyelitis Optica
|
Similar to MS but attacks the optic nerve specifically (and spinal cord)
Its a demyelinating disease in which antibodies target aquaporin 4 in astrocytes which leads to a weakened blood brain barrier |
|
|
|
Acute disseminated encephalomyelitis
|
Viral infection -> periventricular inflammation -> demyelination
Ex: Acute necrotizing hemorrhagic encephalomyelitis (URI -> CNS demyelination -> acute hemorrhage fibrin deposition *LETHAL) |
|
|
|
Acute Necrotizing Hemorrhagic Encephalomyelitis
|
URI -> CNS demyelination -> acute hemorrhage fibrin deposition
*LETHAL |
|
|
|
Central pontine myelinolysis
Rapid correctoin of low blood sodium levels (hyponatremia) -> loss of myelin but sparing axons/nerve cells -> rapid onset quadriplegia |
After a rapid correction of low blood sodium levels (hyponatremia) a patient became quadrapalegic.
|
|
|
|
Bulbospinal atrophy
CAG repeat in androgen receptor |
A patient complains of dysphagia, tongue fasciulations, weakness and "mouth issues"
|
|
|
|
Spinomuscular atrophy (SMA) Type I
|
Werdnig-Hoffman Disease; floppy baby syndrome; often die in 2-3 years
Round fibers (atrophic) Type II or III is less severe |
|
|
|
What type of drugs are edrohoniu, neostigmine, pyridostigmine, physostigmine?
|
Acetylcholinesterase inhibitors
|
|
|
|
Curare
|
NAChR blocker (antidote w/ AChE inhibitors)
Zero oral bioavailability |
|
|
|
Succinylcholine
|
Binds to AChR opens channel, lets sodium in, but is not degraded by acetylcholinesterase so keeps channels open and produces flaccid paralysis
|
|
|
|
Atropine
|
Competitive MAChR antagonist
|
|
|
|
LR6SO4
|
Lateral Rectus: CN VI
Superior Oblique CNIV |
|
|
|
Basal Ganglia; direct pathway
|
Cortex -> Putamen -| Globus Pallidus Interna/SNr -| Thalamus
Net excitation of the thalamus Activated by the SNc |
|
|
|
Basal Ganglia; indirect pathway
|
Cerebral Cortex -> Putamen -| Globus Pallidus Externa -| Globus Pallidus Interna/SNr -| Thalamus
GPE also inhibits STN which stimulates GPI Net inhibitory |
|
|
|
Parkinsons Disease
|
A patient presents with resting tremor, rigidity and bradykinesia. This patient also exhibited stooped posture, masked fascies, and shuffling gait.
MRI reveals degeneration of the SNc and a biopsy reveals Lewy bodies. |
|
|
|
Oculogyric Crisis
Can be caused by chlorpromazine, CP, haloperidol (DAR antagonist) |
A patient presents with uncontrollable sustained upward eye elevation; backward lateral neck flexion and tongue out
The patient notes they have been on haloperidol for psychotic episodes. |
|
|
|
Huntington's Chorea
|
A patient presents with involuntary jerky dance like movements with a distal to proximal progression.
|
|
|
|
Dystonia
|
Patient complains of sustained, involuntary muscle contractions after writing for an extended period of time.
|
|
|
|
Chorea
characteristic of basal ganglia lesion (Huntington's disease) Think choral dancing or choreography |
Patient presents with sudden, jerky, purposeless movements,
|
|
|
|
Huntington's Disease
Expansion of CAG repeats (anticipation) HAntingtons or Caudate loses Ach and Gaba Atrophy of caudate nucleus (loss of GABA); enlarged lateral ventricles, atrophy of putamen |
AD trinucleotide repeat disorder on Chromosome 4
Neuronal death via NMDA-R binding and glutamate toxicity; chorea, depression, ;progressive dementia Symptoms manifest in affected individuals between 20 and 50 |
|
|
|
Choreoathetosis
|
Movements flow around limbs; slow, purposeless
|
|
|
|
Hemiballismus
STN lesion (lacunar stroke in pts with history of hypertension); loss of inhibition of thalamus through globus pallidus HALF BALLISTIC "as in movement to throw a baseball" |
Patient presents with sudden, wild flailing of 1 arm +/- leg
|
|
|
|
Tourette's Syndrome
Tic = release of physical tension (sneezing) Compulsion -> Psychological urge/obsession (fear of germs) |
Sudden, rapid, recurrent, nonrhythmic stereotyped motor movements or vocalizations (tics) that persist for >1 yr
|
|
|
|
Tourette's Syndrome
|
Sudden, rapid, recurrent, nonrhythmic stereotyped motor movements or vocalizations (tics) that persist for >1 yr
Tic = release of physical tension (sneezing) Compulsion -> Psychological urge/obsession (fear of germs) |
|
|
|
Tourette's Syndrome
|
Sudden, rapid, recurrent, nonrhythmic stereotyped motor movements or vocalizations (tics) that persist for >1 yr
Tic = release of physical tension (sneezing) Compulsion -> Psychological urge/obsession (fear of germs) |
|
|
|
TRAP Syndrome
|
Basal Ganglia disorder
"Tremor (rest), Rigidity, Akinesia/Bradykinesia/Postural Instability |
|
|
|
TRAP Syndrome
|
Basal Ganglia disorder
"Tremor (rest), Rigidity, Akinesia/Bradykinesia/Postural Instability |
|
|
|
VATIC Syndrome
|
Cortical Dysfunction
Vision, Audition, Thought process distortion, Informatoin procesing, cortical sensory loss |
|
|
|
Limbic System Dysfunction
|
Patient presents with confusion, forgetfulness, difficulty concentrating, behavioral changes/dementia. What system is dysfunctional?
|
|
|
|
Cerebellar Dysfunction
|
Imbalance, intention tremors, symmetric broad gait
|
|
|
|
Cerebellar Dysfunction
|
Imbalance, intention tremors, symmetric broad gait
|
|
|
|
Fragile X Syndromes
CGG Trinucleotide Repeats (EF...G!); X linked defecit Loss of FMR1 protein function Fragile X = eXtra-large testes, jaw, ears |
Patient presents with elongated face, large or protruding ears, and low muscle tone. He probably has large balls too.
|
|
|
|
Fredreich's Ataxia
Trinucleotide repeat; gAA (AAtAxiA, double A's); mutation of frataxin gene; leads to impairment in mitochondrial functioning Presents in childhood w/ kyphoscoliosis Friedreich is Fratastic (frataxin); he's your favorite frat brother, always stumbling, staggering, and falling |
Patient under 25 years of age presents with progressive staggering or stumbling gait and frequent falling. Lower extremities are more severely involved.
|
|
|
|
Myotonic Dystrophy
|
Trinucleotide repeat expansion; (CTG) = myoTonic dystrophy
Myotonia = slow relaxation of muscles after voluntary contraction DM1 - CG repeats in DMPK gene DM2 - CCTG repeats in ZNF9 gene (zin finger protein) |
|
|
|
L-dopa
|
crosses BBB, converted to DA by dopa-decarboxylase
|
|
|
|
Dopa-decarboxylase
|
Converts L-dopa to DA
|
|
|
|
Bea-hydroxylase
|
Converts DA to NE
|
|
|
|
Carbidopa
|
Inhibits dopa-decarboxylase outside of the BBB to inhibit premature conversation of L-DOPA to DA in the tx of Parkinsons
|
|
|
|
Selegiline
|
Irreversible MAO-B inhibitor for tx of Parkinsons (increase DA in SNc)
|
|
|
|
MPTP
|
Neurotoxin accidently produced in the synthesis of synthetic opioids; can cause permanent symptoms of Parkinson's disease
|
|
|
|
entacapone
|
catechol-O-methyl transferase (COMT) inhibitor of dopa-decarboxylase
|
|
|
|
Atropine/Benzatropine
|
MAChR antagonist; blocks acetylcholine tremors
|
|
|
|
Chlorpromazine
|
DAR antagonist; typical antipsychotic
|
|
|
|
Bromocriptine
|
DAR agonist
|
|
|
|
Risperidone
|
DAR antgonist; atypical antipsychotic; blocks DAR3/4/5HT2R
|
|
|
|
Why does DA tx produce vomiting?
|
CTZ altered by these drugs; vomiting induced
|
|
|
|
Multiple System Atrophy
NO mutation leading to alpha synuclein aggregation (similar to Parkinsons) Atrophy of pons, cerebellum, medulla, SNc/striatum AUTONOMIC DYSFUNCTION 1. impotence 2. Change in sweating 3. Hypoperfusion Multiple Erectile Atrophy |
Patient presents with autonomic dysfunction such as impotence, changes in sweating and hypoperfusion as well as cerebellar signs.
|
|
|
|
Progressive Supranuclear Palsy
Neurofibrillary tangles from tau protein aggregates; midbrain atrophy leads to |
Patient presents with RIGID PARKINSONISM and NO tremor
Histology reveals tau protein aggregates |
|
|
|
Corticobasal Degeneration
|
Patient comlplains of an ALIEN LIMB (fuck!) and progressive asymmetric inability to do abstract tasks (apraxia). This apraxia eventually becomes bilateral in 2-5 years.
|
|
|
|
Drug Induced Parkinsons
|
Neuroleptics or atypical antipsychotics can cause this; results in bilateral bradykinesia or tremors
|
|
|
|
dike
|
Earth or other material built up along a river or ocean to keep the water from overfloweing onto land
|
|
|
|
Golgi Tendon
|
Ib afferent -| alpha motor neuron; senses tension and provides inhibitory feedback to alpha motor neuron to prevent tears
DISYNAPTIC reflex; is inverse of stretch reflex |
|
|
|
Muscle Spindle
|
Responds to excessive stretching of the muscle; sends a signal to contract
Muscle stretch -> intrafusal stretch stimulates Ia afferents ->dorsal horn -> stimulates alpha motor neuron -> reflex muscle (extrafusal) contraction (monosynaptic reflex). |
|
|
|
Gamma Motor Neuron
|
Regulate gain of the stretch reflex by adjusting the level of tension in the intrafusal muscle fibers of the muscle spindle; influenced by the brain
|
|
|
|
Nuclear Bag Fibers
|
Detect the rate of change in muscle length (fast, DYNAMIC changes); are innervated by group Ia afferents; have nuclei collected in a central "bag" region
|
|
|
|
Nuclear Chain Fibers
|
Detet STATIC changes in muscle length; innervated by group II afferents (static); more numerous than nuclear bag fibers; have nuclei arranged in rows
|
|
|
|
Cuneocerebellar Tract
|
Unconscious proproception of unconscious proprioception
Sensory nerve endings -> ascends in cuneatous gracilis (dorsal spinal cord) -> synapses in acessory cuneate nucleus -> inferior cerbellar peduncle |
|
|
|
Dorsal Spinocerebellar Tract
|
Unconscious proprioception of lower extremities. Peripheral receptors to dorsal nucleus of clark in spinal cord -> clark nucleus -> inferior cerbellar peduncle
|
|
|
|
Ventral Spinocerebellar Tract
|
Monitor information from reflex arcs; unconscious proprioceptiv einfo to the cerebellum; coordinated movement and posture of the entire lower extremity; input from muscle spindles, GTOs, and pressure receptors
|
|
|
|
Rostral Spinocerbellar Tract
|
Same as ventral spinocerebellar tract but for upper extremities
|
|
|
|
Purkinje Cell
|
Only output from cerebellar cortex
Projects inhibitory output to cerebellar and vestibular nuclei Excited by parallel and climbing fibers Inhibited by basket and stellate cells |
|
|
|
Granule Cell
|
Excited (glutamate) Purkinje, basket, stellate, and golfi cells via parallel fibers
Inhibited by golgi cells excited by mossy fibers |
|
|
|
Mossy fibers
|
afferent excitatory fibers of the spinocerebellar and pontocerebellar tracts
terminate as mossy fiber rosettes on granule cells excite granule cells to discharge via parallel fibers |
|
|
|
Climbing Fibers
|
Afferent excitatory fibers of the olivocerebellar tract; terminate on neurons of the cerebellar nuclei and on dendrites of Purkinje cells
|
|
|
|
Vestibulocerebellar Pathway
|
Maintains posture, balance, eye movements
Input from vestibular apparatus 1. Semicircular ducts and orolith organs -> floculonodular lobe and vestibular nuclei 2. Flocculonodular lobe receives visual input from superior ocliculus and striate cortex, projects to vestibualr nuclei 3. Vestibular nuclei projects via MLF to ocular motor nuclei to coordinate eye movements and via medial and lateral vestibulospinal tracts to regualte neck and antigravity muscles |
|
|
|
Vermal spinocerebellar pathway
|
, maintains muscle tone and postural control over truncal (axial) and proximal (limb girdle) muscles
1. Vermis receives input from spinocerebellar and labryinthine input; projects to fastigial nucleus 2. Fastigial nucleus projects to spinal cord via vestibular nuclei and VLN of thalamus 3. precentral gyrus |
|
|
|
Paravermal Spinocerebellar Pathway (Intermediate)
|
Maintains muscle tone and postural control over distal muscle groups
1. Paravermis receives spinocerebellar input from disal muscles 2. Interposed nuclei have excitatory output, project to VLN and red nucleus which gives rise to the rubrospinal tract; mediates control over distal muscles |
|
|
|
Lateral hemispheric cerebellar pathway
1. Cerebellar hemisphere -> corticopontocerebellar tract (projects via Purkinje cell axons to dentate nucleus) 2. Dentate nucleus to Red nucleus and ventral lateral nucleus |
A patient has a disorder in a pathway that regulates initiation, planning, and timing of volitional motor activity
|
|
|
|
Anterior Vermis Syndrome
Involves leg region of anterior lobe Results from atrophy of rostral vermis, most commonly caused by alcohol abuse Results in GAIT, TRUNK, and LEG DYSTAXIA |
A patient with a history of alcohol abuse presents with gait, trunk, and leg dystaxia.
|
|
|
|
Posterior Vermis Syndrome
Involves flocculonodualr lobe Usually from brain tumors (medulloblastoma, epedymoma) |
Patient presents with truncal ataxia
|
|
|
|
Hemispheric Syndromes
|
Usually involves one cerebellar hemisphere
Frequently from brain tumor or abscess Results in arm, leg, trunk, and gait dystaxia Results in cerebellar signs ipsilateral to lesion |
|
|
|
Cerebello-olivary Degeneration (Holmes Disease)
|
AD; loss of Purkinje and granule cells, followed by a loss of neurons in the INFERIOR OLIVARY NUCLEI
gait ataxia, dysarthria, and intention tremor |
|
|
|
Olivopontocerebellar Degeneration (Dejerine-Thomas Syndrome)
AD Loss of purkinje cells, inferior olivary nucleus, pontine nuclei Demyelination of DC/SC tracts |
Patient presents with gait ataxia, dysarthria, and intention tremor and some show parkinsonian signs
|
|
|
|
Subacute Combined Degeneration
|
Vitamin B12 neuropathy;
Demyelination of dorsal columns lateral corticospinal tract, spinocerebellar tracts ataxic gait, hyperreflexia, impaired position and vibration sense |
|
|
|
Gentamicin
|
Ototoxic; destroys hair cells in vestibular apparatus and cochlea
Used to tx gram negative organisms |
|
|
|
Aminoglycosides
|
Chelate iron; in this reaction they release free radicals that cause hair cell apoptosis in ampulae and organ of corti
|
|
