Neurology Kaplan

Question 1

Phenytoin, Carbamazepine, Valproic Acid Pregnancy indications?

Answer 1

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)

Question 2

Encephalocele

Answer 2

Herniation of brain tissue through brain defect

Question 3

Side effect of Hemorrhagic cystitis Medication

Answer 3

Cyclophosphamide

Question 4

Hyperpigmentation side effect medication

Answer 4

Bisulfan (also pulmonary fibrosis)

sulfur pigmented..

Question 5

Bleomycin Side Effect?

Answer 5

Pulmonary Fibrosis Side effect

Question 6

Promotor region methylation and transcription silencing —>

Answer 6

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

Question 7

Myotonic Dystrophy

Answer 7

CTG tri-nucleotide expansion.Cataracts, Toupee, Gonadal atrophy, AD inheritance, arrhythmia

Question 8

Non frameshift deletion

Answer 8

Becker, X linked disorder, onset in adolescence, deletion spans multiple exons

Question 9

Duchenne X linked

Answer 9

Frameshift or nonsense mutation - truncated or absent dystrophin (connects actin to alpha beta dystroglycan transmembrane), CK and aldolase upregulated

Question 10

Cause of death for duchenne Vs. Friedrich ataxia

Answer 10

Duchenne dilated cardiomyopathy, vs hypertrophic cardiomyopathy

Question 11

Accumulation of abnormally long protein with neurons

Answer 11

CAG huntington disease triexpansion leads to polyglutamine protein in neurons and activates NDMA receptors neuronal damage

Question 12

Question provides you with choices about long proteins… what diseases could it be?

Answer 12

Huntington Disease, Myotonic (long mRNA), Fragile X (lone protein that causes hypermethylation and decreased expression), Friedreich ataxia (decreased activity of mitochondrial protein)

Question 13

SNRIs Vs. MOA inhibitors

Answer 13

SNRIs cause antimuscarnic affect, hypotension, high HR. MOA inhibitors do not have antimuscarinic effects

Question 14

Sulcus limitans

Answer 14

alar plate and basal plate separated by a longitudinal groove

Question 15

GABA B

Answer 15

K+ Efflux to stabilize neuron… Baclofen

Question 16

Immune reconstitution inflammatory syndrome

Answer 16

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

Question 17

First pharyngeal pouch

Answer 17

forms the middle ear cavity and auditory tube

Question 18

2nd-4th pharyngeal cleft

Answer 18

obliterated by 2nd mesenchymal arch. If not patent and will be cervical sinus anterior to SCM and lateral does not move when swallowing

Question 19

1st pharyngeal cleft

Answer 19

forms external ear canal

Question 20

Ataxia Telangiectasia

Answer 20

Defects in ATM gene􏰂failure to detect DNA damage 􏰂failure to halt progression of cell cycle􏰂mutations accumulate; autosomal
recessive

so anything with non homologous recombination will be affected like V(D)J recombination

more symptoms

1. ataxia
2. spider angiomas
3. cerebellum defects
4. increased sensitivity to radiation

AFP up, and Ig A G E down!

Question 21

Doxepin, clomipramine, amoxapine (mocking the atypical antipsychotic prefix -apine)

Answer 21

Tricyclic antidepressant

α1-blocking effects including postural hypotension, and atropine-like (anticholinergic) side effects (tachycardia, urinary retention, dry mouth)

Question 22

Atypical antipsychotics like clozapine, quetiapine, olanzapine

Answer 22

All—prolonged QT, fewer EPS and anticholinergic side effects than typical antipsychotics.

Question 23

Why would a anticholinergic drug help for parkinson?

Answer 23

Because decrease acetylcholine increases dopamine, they balance each other out.
Amitryptline

Question 24

MECP mutation

Answer 24

Rett syndrome, female on x chromosome, ataxia seizure, growth failure, HAND WRINGING

Question 25

Long mRNA Vs. Friedreich ataxia

Answer 25

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

Question 26

Tabes Dorsalis

Answer 26

sensory ataxia, impaired vibration position sense of extremities, produce light near dissociation (eyes wont constrict to light)

Question 27

Coarctation of the Aorta

Answer 27

isthmus of the aorta is the common site for postductal coarctation of the aorta, retrograde flow through the posterior intercostal arteries develop

Question 28

Causes of metabolic acidosis with anion gap

Answer 28

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

Question 29

Doxepin, amoxapine, desipramine

DOX video (a mock fake anti psychotic) and DESPERATE MEAN

Answer 29

inhibit serotonin and NE reuptake (TCS) CAUSES HYPOTENSION, fast heart rate, (alpha blocker 1) antimuscarinic

Question 30

Rabies

Answer 30

eosinophilic inclusions in gray matter, hallucinations. hydrophobia, excessive salivation

Question 31

1-6 Months of schizo tendencies

Answer 31

Schizopheniform

Question 32

Genu of internal capsule damage causes

Answer 32

Contralateral loss of motor movement in lower face

Question 33

Damage to posterior limb of internal capsule causes

Answer 33

Loss of contralateral hemiparesis

Question 34

LCMV: lymphocytic choriomeningitis virus, Lassa Virus

Answer 34

SS + and - circular 2 segments, from rodents

Question 35

Hantavirus

Answer 35

SS - circular 3 segments, from mosquitos and causes hemorrhagic fever pneumonia

Question 36

Neuroectoderm is

Answer 36

neural tube: CNS, retina optic nerve, pineal gland, neurohypophysis, astrocytes, oligodendrocytes

Question 37

Friedrich ataxia

Answer 37

AR

Question 38

Herpes 1 or 2 causes encephalitis

Answer 38

1

Question 39

Rosenthal fibers

Answer 39

twistic eosinophilic fibers for child cerebellum tumor- Pilocytic astrocytoma

Question 40

Viral encephalitis

Answer 40

Temporal and frontal lobe infection

Question 41

spasticity of lower extremities

Answer 41

chronic hydrocephalus stretches the motor cortices and pyramidal tracts around the dilated ventricles causing upper motor neuron damage

Question 42

Continuous machinery murmur

Answer 42

Patent ductus arteriosus

Question 43

Accumulation of lipids and foam cells in arteries

Answer 43

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.

Question 44

Increased protein deposition in endoneural vessel walls

Answer 44

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.

Question 45

Leber hereditary optic neuropathy

Answer 45

including circumpapillary telangiectatic microangiopathy, pseudoedema of the nerve fiber layer around the disc, and absence of peripapillary staining on fluorescein angiography.

Question 46

SMN1 gene mutation on chromosome 5

Answer 46

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;

Question 47

Myotonic Dystrophy CTG trinucleotide repeat on chromosome 19 DMPK gene

Answer 47

muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia.

Question 48

Dystrophin gene mutation on x chromosome

Answer 48

Duchenne and
X-linked disorder typically due to frameshift deletions or nonsense mutations􏰂truncated or absent dystrophin protein􏰂progressive 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).

Question 49

SOD1 gene mutation on chromosome 21

Answer 49

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)

Question 50

Gustatory in what part of thalamus

Answer 50

VPM

Question 51

Phrenic nerve supplies

Answer 51

hemidiaphragm + fibrous pericardium

Question 52

PML

Answer 52

intranuclear inclusions and perivascular lymphocytes

Question 53

HIV encephalopathy

Answer 53

CD4 count <200 cerebral atrophy

Question 54

Ring fiber on muscle biopsy

Answer 54

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