Neurology Kaplan Flashcards
Phenytoin, Carbamazepine, Valproic Acid Pregnancy indications?
Do not take with pregnant patient.
Valproic causes neural tube defects
Carbamazepine causes spina bifida, cleft lip
Phenytoin causes Fetal hydantoin syndrome (hypoplasia nails, limbs, cleft palate, face abnormalities)
Encephalocele
Herniation of brain tissue through brain defect
Side effect of Hemorrhagic cystitis Medication
Cyclophosphamide
Hyperpigmentation side effect medication
Bisulfan (also pulmonary fibrosis)
sulfur pigmented..
Bleomycin Side Effect?
Pulmonary Fibrosis Side effect
Promotor region methylation and transcription silencing —>
Fragile X syndrome: FMR1 Gene- most commonly inherited cause of intellectual disability (Down syndrome is most commonly genetic cause that is sporadic)
Post pubertal macro-ochidism, (enlarged testes), long face with large jaw, large everted hearts, autism, mitral valve prolapse, hypermobile joints
Myotonic Dystrophy
CTG tri-nucleotide expansion.Cataracts, Toupee, Gonadal atrophy, AD inheritance, arrhythmia
Non frameshift deletion
Becker, X linked disorder, onset in adolescence, deletion spans multiple exons
Duchenne X linked
Frameshift or nonsense mutation - truncated or absent dystrophin (connects actin to alpha beta dystroglycan transmembrane), CK and aldolase upregulated
Cause of death for duchenne Vs. Friedrich ataxia
Duchenne dilated cardiomyopathy, vs hypertrophic cardiomyopathy
Accumulation of abnormally long protein with neurons
CAG huntington disease triexpansion leads to polyglutamine protein in neurons and activates NDMA receptors neuronal damage
Question provides you with choices about long proteins… what diseases could it be?
Huntington Disease, Myotonic (long mRNA), Fragile X (lone protein that causes hypermethylation and decreased expression), Friedreich ataxia (decreased activity of mitochondrial protein)
SNRIs Vs. MOA inhibitors
SNRIs cause antimuscarnic affect, hypotension, high HR. MOA inhibitors do not have antimuscarinic effects
Sulcus limitans
alar plate and basal plate separated by a longitudinal groove
GABA B
K+ Efflux to stabilize neuron… Baclofen
Immune reconstitution inflammatory syndrome
Immune reactivation disorder that can occur in HIV infected individuals with pre-existing infectious processes after initiation of antiretroviral therapy. when immune function is restored, inflammatory reactions can occur
First pharyngeal pouch
forms the middle ear cavity and auditory tube
2nd-4th pharyngeal cleft
obliterated by 2nd mesenchymal arch. If not patent and will be cervical sinus anterior to SCM and lateral does not move when swallowing
1st pharyngeal cleft
forms external ear canal
Ataxia Telangiectasia
Defects in ATM genefailure to detect DNA damage failure to halt progression of cell cyclemutations accumulate; autosomal
recessive
so anything with non homologous recombination will be affected like V(D)J recombination
more symptoms
- ataxia
- spider angiomas
- cerebellum defects
- increased sensitivity to radiation
AFP up, and Ig A G E down!
Doxepin, clomipramine, amoxapine (mocking the atypical antipsychotic prefix -apine)
Tricyclic antidepressant
α1-blocking effects including postural hypotension, and atropine-like (anticholinergic) side effects (tachycardia, urinary retention, dry mouth)
Atypical antipsychotics like clozapine, quetiapine, olanzapine
All—prolonged QT, fewer EPS and anticholinergic side effects than typical antipsychotics.
Why would a anticholinergic drug help for parkinson?
Because decrease acetylcholine increases dopamine, they balance each other out.
Amitryptline
MECP mutation
Rett syndrome, female on x chromosome, ataxia seizure, growth failure, HAND WRINGING
Long mRNA Vs. Friedreich ataxia
Friedreich Ataxia has GAA trinucleotide repeat in intron 1 casuing histone modification silencing.
Messing up mitochondria function rather than having a very long protein
Very long protein in neuron is huntington disease
very long mRNA myotonic dystrophy
Fragile X is repeat in FMR1 gene causing hyper methylation (CGG), silencing, expression loss
Tabes Dorsalis
sensory ataxia, impaired vibration position sense of extremities, produce light near dissociation (eyes wont constrict to light)
Coarctation of the Aorta
isthmus of the aorta is the common site for postductal coarctation of the aorta, retrograde flow through the posterior intercostal arteries develop
Causes of metabolic acidosis with anion gap
MUDPILES
methanol uremia diabetic ketoacidosis (glucose 300) propylene glycol Iron/Isoniazid Lactic acidosis Ethylene Glycole Salicylates (aspirin)
Ethylene glycol turns to oxalic acid by alcohol dehydrogenase –> renal failure, inebriation, anusea, vomiting, carpopedal spasm, convulsions, fomepizole can be used as an antidote
Aspirin early respiratory alkalosis because respiratory drive increased, later metabolic acidosis because aspirin metabolites
Doxepin, amoxapine, desipramine
DOX video (a mock fake anti psychotic) and DESPERATE MEAN
inhibit serotonin and NE reuptake (TCS) CAUSES HYPOTENSION, fast heart rate, (alpha blocker 1) antimuscarinic
Rabies
eosinophilic inclusions in gray matter, hallucinations. hydrophobia, excessive salivation
1-6 Months of schizo tendencies
Schizopheniform
Genu of internal capsule damage causes
Contralateral loss of motor movement in lower face
Damage to posterior limb of internal capsule causes
Loss of contralateral hemiparesis
LCMV: lymphocytic choriomeningitis virus, Lassa Virus
SS + and - circular 2 segments, from rodents
Hantavirus
SS - circular 3 segments, from mosquitos and causes hemorrhagic fever pneumonia
Neuroectoderm is
neural tube: CNS, retina optic nerve, pineal gland, neurohypophysis, astrocytes, oligodendrocytes
Friedrich ataxia
AR
Herpes 1 or 2 causes encephalitis
1
Rosenthal fibers
twistic eosinophilic fibers for child cerebellum tumor- Pilocytic astrocytoma
Viral encephalitis
Temporal and frontal lobe infection
spasticity of lower extremities
chronic hydrocephalus stretches the motor cortices and pyramidal tracts around the dilated ventricles causing upper motor neuron damage
Continuous machinery murmur
Patent ductus arteriosus
Accumulation of lipids and foam cells in arteries
Accumulation of lipids and foam cells in arteries is one of the major steps in the pathophysiology of atherosclerosis. Foam cells and platelets promote smooth muscle cell migration to large extracellular lipid cores. By consuming lipids, the smooth muscle cells proliferate in conjunction with fibrosis and foam cell deposition, further expanding the atherosclerotic lesion. While this process may lead to peripheral vascular disease, in this case, the uncontrolled diabetic patient is more likely to develop hyaline arteriolosclerosis, which does not involve lipids and foam cells.
Increased protein deposition in endoneural vessel walls
Although there are multiple pathophysiological mechanisms that play a role in the development of diabetic peripheral neuropathy, microvascular disease is a key contributing factor. Chronic hyperglycemia leads to the formation of nonenzymatically glycosylated plasma and tissue proteins, which leads to hyalinization of the basal lamina and thickening of the basement membrane of endoneural vasculature. As a result, nerve ischemia occurs, leading to a reduction of intraepidermal nerve fiber density.
Leber hereditary optic neuropathy
including circumpapillary telangiectatic microangiopathy, pseudoedema of the nerve fiber layer around the disc, and absence of peripapillary staining on fluorescein angiography.
SMN1 gene mutation on chromosome 5
An SMN1 gene mutation on chromosome 5 is the underlying genetic pathology of spinal muscular atrophy (SMA). SMA results in congenital degeneration of the anterior horn in the gray matter of the spinal cord;
Myotonic Dystrophy CTG trinucleotide repeat on chromosome 19 DMPK gene
muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia.
Dystrophin gene mutation on x chromosome
Duchenne and
X-linked disorder typically due to frameshift deletions or nonsense mutationstruncated or absent dystrophin proteinprogressive myofiber damage. Weakness begins in pelvic girdle muscles and progresses superiorly. Pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle
Becker
X-linked disorder typically due to non- frameshift deletions in dystrophin gene (partially functional instead of truncated).
SOD1 gene mutation on chromosome 21
An SOD1 gene mutation on chromosome 21 is the underlying genetic pathology of familial amyotrophic lateral sclerosis (ALS). Although ALS can manifest with degeneration of the lateral corticospinal tracts (upper motor neuron), atrophy of the spinocerebellar tracts and dorsal columns would not be expected. In addition, ALS would also cause degeneration of the anterior horn cells (lower motor neuron)
Gustatory in what part of thalamus
VPM
Phrenic nerve supplies
hemidiaphragm + fibrous pericardium
PML
intranuclear inclusions and perivascular lymphocytes
HIV encephalopathy
CD4 count <200 cerebral atrophy
Ring fiber on muscle biopsy
Myotonic dystrophy, CTG trinucleotide repeat expansion CTG, forntal balding eyelid and facial muscle atrophy, distal muscle weakness (Gravis is proximal muscle weakness) and cardiac involvement
