Week 1 Flashcards
Pernicious anemia causes …
B12 deficiency (antibodies against parietal cells or IF) Atrophic gastritis leading to gastric carcinoma
Pernicious anemia labs will show
increased methylmalonic acid and homocysteine (Same as B12 deficiency)
Reye syndrome is caused by
mitochondrial dysfunction
Clindamycin may be used as
acne treatment
C Diff pathogenesis
exotoxins A and B attract granulocytes and are cytopathic
Pseudomembranous colitis presents as
diarrhea after starting antibiotics
Megaloblastic anemia is caused by
Impaired DNA synthesis due to limited precursors
=> B12 deficiency (most often due to pernicious anemia) or B9 (Folate) deficiency
Megaloblastic anemia causes
neuro symptoms (demyelination), parasthesis, gait disturbances, glossitis, autoimmune gastritis (predisposing to gastric carcinoma) Macrocytic RBC's and hypersegmented neutrophils
Plummer Vinson Syndrome causes
esophageal webs, dysphagia, and iron deficiency anemia
Increased risk for SCC in upper 2/3 of esophagus
Beta blockers are used in acute coronary syndrome because they
inhibit neurotransmitter/receptor interaction in synapses
In long term opioid therapy, buprenorphine can
precipitate withdrawal (partial agonist)
Most common cause of bilateral absence of Vas Deferens
Cystic Fibrosis
Myasthenia Gravis is autoantibodies against
nicotinic acetylcholine receptors on post synaptic membrane on the NMJ
Myasthenia Gravis autoantibodies cause
receptor degradation and membrane damage,
Leads to impaired action potentials and fluctuating weakness that worsens during the day
Often presents with ocular and bulbar (chewing) weakness that worsens throughout the day
Myasthenia gravis
Myasthenia gravis is treated with
acetylcholinesterase inhibitors to prevent breakdown of ACh in NMJ (Pyridostigmine)
Organophosphates (pesticides) are
irreversible acetylcholinesterase inhibitors
Organophosphates cause
Cholinergic excess (salvation lacrimation diaphoresis bradycardia bronchospasm)
Treat organophosphate poisoning with
Muscarinic antagonist such as atropine and pralidoxime
Neural tube defects can be detected with
Alpha fetoprotein and acetylcholine esterase
Abnormal accumulation of CSF in the brain due to overproduction or impaired drainage
Hydrocephalus
Hydrocephalus causes
Macrocephaly for feeding hypertonicity and Hyper reflexes
Acute onset neurological symptoms not compatible with any known disease and associated with stress
Conversion disorder
Excess anxiety and preoccupation with unexplained symptoms
Somatic symptom disorder
X-linked disorder presenting with long narrow face prominent chin and forehead and large testes
Fragile X syndrome
Fragile X syndrome may have findings that mimic
Anxiety, autism, and ADHD
Fragile X mental retardation is due to what Gene
Fmr1 Gene
Tay-Sachs disease is a deficiency of what leading to an accumulation of what
Beta hexosaminidase A leading to accumulation of gm2 ganglioside
Progressive neurologic deterioration in infants, with a cherry red macula and startle reflex
Tay-Sachs disease
Three to five days after a stroke
Microglia appear to phagocytize fragments of neurons myelin and necrotic debris
Number of new cases per year divided by total at-risk population
Incidence
Lamotrigine levetiracetam Topiramate valproic acid
Broad spectrum anticonvulsant used for most seizures focal or general
Carbamazepine, Gabapentin, phenobarbital, phenytoin
Narrow Spectrum anticonvulsant used for focal onset seizures
A stroke in the thalamus may damage the ventral posterior lateral nucleus and medial nucleus causing
Contralateral sensory loss,
proprioceptive defects including unsteady gait
Small vessel occlusion in the deep brain associated with uncontrolled hypertension and diabetes
Lacunar infarct
Deficiency in chronic alcoholism
Thiamine, B1 deficiency, leading to Wernicke encephalopathy and mammillary body destruction
When someone presents with chronic alcoholism and malnourishment what do you give them
Thiamine and then dextrose to prevent encephalopathy
12 to 24 hours after a stroke
Red neurons, eosinophils and loss of Nissl substance
24 to 72 hours after a stroke
Neutrophilic infiltrate
3 - 7 days after a stroke
Macrophages and microglia and phagocytosis
One to two weeks after a stroke
Reactive gliosis and Vascular proliferation around the necrosis
Greater than two weeks and the month after stroke
A glial scar forms and cystic areas are surrounded by dense glial fibers
Arginase deficiency causes
Progressive spastic diplegia, growth delay, and abnormal movements
Build-up of Arginine and depletion of ornithine in the urea cycle
Depression, Progressive dementia, choreiform movements, caudate atrophy
Huntington’s disease
CAG repeats at chromosome 4 that lead to anticipation
Huntington’s disease
Mono amine profile of Huntington’s disease
Decreased Gaba, decreased acetylcholine, increase dopamine
Defect in ATM Gene with a failure to repair DNA
Ataxia telangiectasia
Ataxia telangiectasia presents with
Sensitivity to ionizing radiation, cerebellar Ataxia, spider angiomas, sinopulmonary infections
Binds mu receptors to activate potassium channels and hyperpolarize neurons, terminating pain transmission
Morphine
Mutations in NF1 tumor suppressor Gene cause
Neurofibromatosis type 1
Neurofibromatosis type 1 presents with
Numerous cutaneous neurofibromas drive from Schwann cells (neural crest) and Cafe Au Lait spots
Anterograde transport such as in HSV is mediated by
Kinesin
Retrograde transport toward the nucleus is mediated by
Dynein
Serotonin is released from
raphe nuclei
A lesion to cranial nerve 7 does what to sound
causes hyperacusis by paralyzing the stapedius
Present with intellectual disability, seizures, pallor of catecholamine nuclei, musty odor, and hypopigmentation
PKU - phenylketonuria
phenylketonuria is the
Inability to convert phenylalanine to tyrosine vs phenylalanine hydroxylase
PKU results from a deficiency of
Phenylalanine hydroxylase or tetrahydrobiopterin
the axillary nerve supplies
the deltoid and teres minor and sensory for the skin over the shoulder
injury to the axillary nerve causes
sensory loss and weak shoulder abduction, most often due to trauma
the long thoracic nerve supplies
serratus anterior
injury to the long thoracic nerve most often occurs during and results in
injury during node dissection resulting in winged scapula
cryptococcus neoformans route of transmission
respiratory transmission, with the lungs the most common site of entry
Yeast often disseminates in the immunocompromised
exit the pelvis through the obturator canal
obturator nerve
obturator nerve injury
most often due to compression and causes weak thigh adduction and medial thigh sensory loss
contralateral motor and sensory of the Upper Limb and face (may also cause speech and language deficits)
middle cerebral artery occlusion (MCA)
anterior cerebral artery occlusion (ACA)
affects the lower limb motor and sensation contralateral
posterior cerebral artery occlusion
effects vision causing hemianopia with macular sparing contralaterally
Bonds holding proteins together
hydrogen bonds
Intraventricular Hemorrhage in premature infants usually occurs in
the germinal Matrix with increased frequency in lower age and lower birth weight infants
cavernous hemangiomas occur in
the brain parenchyma due to VHL disease (VHL gene mutation on Chr. 3)
Causing an increase risk for intracerebral Hemorrhage and seizures
Associated with pheochromocytoma and RCC
red ragged muscle fibers
scene in mitochondrial diseases as the mitochondria accumulate under the sarcolemma
mitochondrial disease is strictly maternal inheritance
sodium propagates action potential
down an axon
Depolarizes The Junction to allow neurotransmitter release
Calcium
provides sensation to the suprapubic and gluteal regions and motor to anterolateral abdominal wall
iliohypogastric nerve
injury to the iliohypogastric nerve
occurs with appendectomy or other abdominal wall surgery
results in burning suprapubic pain
Excessive daytime sleepiness, episodic loss of motor tone with emotion (cataplexy), and sleep paralysis
Narcolepsy
narcolepsy with cataplexy is caused by
decrease hypocretin 1 and hypocretin 2 which is produced in the lateral hypothalamus
Benign childhood brain tumors presenting as calcifications containing cholesterol crystals
craniopharyngiomas which arise from remnants of rathke’s pouch
urea cycle defects cause what to accumulate
Ammonia
treat by decreasing ammonia with protein restriction
looks like toxoplasmosis, but is Epstein-Barr virus positive and is a b-cell lymphoma
primary central nervous system lymphoma
Presents with dystonia, choreoathetosis, self mutilation, and hyperuricemia during first few years of life
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is caused by
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
Results in failure of purine salvage pathway (degrading hypoxanthine and guanine)
Increases PRPP amidotransferase
Trochlear nerve innervates what muscle
the superior oblique of the eye
allow the eye to look in and down
injury to the trochlear nerve, trochlear nerve palsy, causes
the injured eye to stay upward, resulting in vertical diplopia
patients have a hard time reading up close and walking down stairs
Neuroleptic Malignant Syndrome (NMS)
Caused by overdose of antipsychotics
Results in rigidity, fever, HTN, tachycardia, altered sensorium, and increased CK (rhabdo)
Alanine transfers
Nitrogen to the liver for disposal
Lowering pCO2 (a potent vasodilator) decreases intracranial pressure by
Causing vasoconstriction, increasing VR, and decreasing cerebral blood flow
Lesions in the temporal lobe have what affect on vision
Disrupt meyer’s loop causing a contralateral upper quadrant anopia
Phrenic nerve
Located at C3-C5 and innervates the ipsilateral hemidiaphragm (hiccups)
Affected by spreading lung cancer
C5, C6 spinal nerve reflex
Biceps and brachioradialis
C7, C8 spinal nerve reflex
Triceps reflex
Concentration of leptin correlates with
Body fat
Normally as leptin increases food intake
Decreases
Leptin decreases appetite stimulation and inhibits food intake
Mutations in leptin cause
Hyperphagia and profound obesity
Unable to prevent appetite stimulation
Irritability, dystonia, poor feeding, maple syrup or burnt sugar urine scent, increased muscle tone
Maple syrup urine disease
Cause of treatment of maple syrup urine disease
Caused by BCKDC deficiency preventing the breakdown of leucine and valine
Restrict branched chain AA’s such as leucine and valine (found in breast milk)
Children should know 50-200 words and use 2 word phrases by
Age 2
Diabetic neuropathy is caused by
Increased glucose, leading to increased sorbitol, causing osmotic damage to the cells
Or by thickening of peripheral blood vessels, causing microangiopathy and ischemia to the nerves
The middle of the cerebellum lesions
Lesions of the vermis, causing truncal ataxia
