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AM- STEP1 > Last Set 3 > Flashcards

Last Set 3 Flashcards

1
Q 
Loss of pain and temp on C/L body
Loss of pain and temp on ipsl face 
Hoarseness 
Difficulty swallowing 
Loss of gag reflex 
Vertigo 
Nystagmus 
N/V
A

Lateral Medullary syndrome (Wallenberg)

PICA

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2
Q 
Dysphagia
Dysphonia 
Dysarthria 
C/L spastic hemiparesis 
Ipsl ptosis 
Pupillary dilation 
Lateral strabismus (down and out)
A

Weber syndrome

Anterior midbrain infarction resulting from occlusion of paramedian branches of the posterior cerebral artery

Oculomotor nerve
Cerebral peduncle lesion

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3
Q

Carotid sheath contains (3)

A

Internal jugular v.
Common carotid A.
Vagus n.

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4
Q

Magnetic gait

A

Normal pressure hydrocephalus

Wet wacky wobbly

Urinary incontinence
Dementia
Gait disturbances

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5
Q

Jaw muscle pain when chewing

A

Giant cell arteritis

Temporal arteritis

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6
Q

Headache + Extraocular muscular palsies

A

Cavernous sinus thrombosis

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7
Q 
Rapidly progressive primary brain tumor
Irregular necrotic center 
Surrounded by edema 
GFAP stain 
Pseudopalasating pattern "snake like"
A

Glioblastoma

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8
Q

Slow growing primary brain tumor
“Whorled”
Surface of brain
Psammoma bodies

  • originates
  • risk
A

Meningioma

Arachnoid cells

Risk

  • Radiation
  • Neurofibromatous type 2
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9
Q

Slow growing brain tumor
Frontal lobe
Perinuclear cytoplasmic clearing

A

Oligodendroglioma

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10
Q

Posterior fossa brain tumor
GFAP
Rosenthal fibers

A

Pilocytic astrocytoma

Rosenthal fibers: eosinophilic corkscrew fibers

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11
Q

Rathke’s pouch
Compresses optic chiasm
Supratentorial tumor of childhood

A

Craniopharyngioma

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12
Q

Malignant brain tumor
Cerebellar
Compress 4th ventricle
Homer-wright rosettes

A

Medulloblastoma

Cells circle around tangle of fibers

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13
Q

Compress 4th ventricle

Peri-vascular pseudo-rosettes

A

Ependymona

Circular arrangement of cell around vessel

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14
Q

Eosinophilic corkscrew fibers

A

Rosenthal fibers

Pilocytic astrocytoma

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15
Q

Uvela deviates to right, damage to what 2 things

A

Left vagus n.

Left nucleus ambiguus

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16
Q

alpha 1
alpha 2
Beta 1
Beta 2

A

Alpha 1: vascular smooth m. contraction

  • increase resistance and BP
  • bladder sphincter contraction

Alpha 2: Inhibit NE release

Beta 1: Heart

  • Tachycardia
  • increase contractility
  • release renin

Beta 2: Lungs

  • Vasodilation
  • bronchodilation
  • insulin release
  • decrease uterine tone
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17
Q

Structures in cavernous sinus

A 
Oculomotor
Trochlear n. 
Abducens 
Opthalmic div V1 
Maxillary div V2

Internal carotid A.

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18
Q

Aortic arches

A

Most likely to be test on 3rd and 4th

1st
- Part of maxillary A.

2nd

  • stapedial A.
  • hyoid A.

3rd

  • common carotid a.
  • proximal part of internal carotid A.

4th

  • Left: arch of adult aorta
  • Right: Proxiaml part of right subclavian a.

6th

  • proximal part of pulmonary A.
  • Ductus arteriosus
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19
Q

Pregestational diabetes possible heart defect

A

Transposition of great vessels

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20
Q

Mean arterial pressure (P) =

A

MAP = Cardiac output (Q) x Peripheral resistance (R)

P= QxR

MAP= 2/3 diastolic pressure + 1/3 systolic pressure

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21
Q

Liver disease does what to starling forces

A

Decreases plasma colloid osmotic pressure

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22
Q

Affect on starling forces

  1. HF
  2. Liver failure
  3. Oliguric renal failure
  4. Infections
  5. Nephrotic syndrome
  6. Lymphatic blockage
  7. Burns
  8. Diuretic administration
  9. IV infusion of albumin
  10. Venous insufficiency
A
  1. HF= Increase Pc
  2. Liver failure= Decrease TTc
  3. Oliguric renal failure= Increase Pc
  4. Infections= Increase Kf
  5. Nephrotic syndrome= Decrease TTc
  6. Lymphatic blockage= Increase TTi
  7. Burns= Increase Kf
  8. Diuretic administration= Decrease Pc
  9. IV infusion of albumin= Increase TTc
  10. Venous insufficiency= Increase Pc
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23
Q

Inspiration makes what murmur louder

A

Tricuspid

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24
Q

What murmur is louder with expiration

A

Mitral

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25
Q

MOA of N-acetylcysteine for acetaminophen overdose

A

Regenerates glutathione

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26
Q

9;22

cell looks like

A

CML

Blood smear shows leukocytosis with many immature myeloid cells (horseshoe nucleus)

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27
Q

12;21

A

B cell- ALL

Anemia
Thrombocytopenia
Lymphoblasts

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28
Q

Basaloid cells with peripheral palisading nuclei

A

Basal cell carcinoma

Slow growing papules, ulceration or rolled border

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29
Q

Allelic heterogeneity

A

Multiple genes same phenotype

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30
Q

Genetic mutations chromosome 7

A

Cystic fibrosis
Ehlers Danlos
Osteogenesis imperfecta

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31
Q

Genetic mutations chromosome 16

A

Polycystic kidney disease

Tuberous sclerosis

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32
Q

Increase in branched chain alpha-keto acid

What can also be deficent

A

Maple syrup urine disease

Alpha ketoacid dehydrogenase require thaimine pyrophosphate (Vit B1) as coenzyme

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33
Q

Glucose 6 phosphatase deficiency

A

Von Gierke disease

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34
Q

Glycogen phosphorylase deficiency

A

McArdle

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35
Q

Chromogranin

A

Carcinoid tumor

Secretes serotonin

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36
Q

Diabetes medications

  1. Acarbose
  2. Canagliflozin
  3. Glyburide
  4. Pioglitazone
  5. Repaglinide
A

Acarbose
-intestinal brush border alpha glucosidase inhibitor decreases postprandial hyperglycemia by reducing GI absorption of glucose

Canagliflozin
- sodium glucose cotransporter 2 inhibitors, act on kidney to decrease reabsorption of filtered glucose

Glyburide (sulfonylureas) and Meglitinides (repaglinide)

  • bind to and close ATP sensitive K channels in pancreatic beta membrane
  • depolarize and open L type Ca channel
  • Increase Ca influx, insulin release

Pioglitazone (Thiazolidinediones) peroxisome proliferator-activated receptor gamma (PPAR-y)

  • decrease insulin resistance
  • expression glut 4
  • adiponectin
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37
Q

Celiac disease location

A

Distal duodenum

Proximal jejunum

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38
Q

Cystic fibrosis type of mutation

A

Frame shift

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39
Q

Stimulates neutrophil migration to sites of inflammation

A

Leukotriene B4

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40
Q

Hyperlipoproteinemias types

A

Type I (AR)

  • Familial chylomicroenemia
  • Defect: Lipoprotein lipase
  • Defect: ApoC-2 production
  • Elevated chylomicrons
  • Acute pancreatitits*, Lipemia retinalis, eruptive xanthomas
Type IIA 
- Familial hypercholesterolemia 
- Defect: LDL receptor 
- Defect: ApoB-100 
- Elevated LDL* 
(Impaired LDL particle uptake by hepatocytes) 
-Premature atherosclerosis* 
- Tendon xanthomas, xanthelasmas (yellow deposit around eyes)

Type III

  • Familial dysbetalipoproteinemia
  • Defect ApoE
  • Elevated: chylomicron & VLDL remnants
  • Premature atherosclerosis*
  • Tuboeruptive and palmar xanthomas

Type IV

  • Familial hypertriglyceridemia
  • Defect Polygenic
  • Elevated VLDL
  • Associated with coronary disease, pancreatitis and diabets
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41
Q

Measuring pressure in pulmonary artery is also measuring pressure where?

A

Left atrial pressure

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42
Q

Ammonium and bicarbonate generated from AA

Urea and ornithine produced from

pyruvate produced from AA

oxaloacetate produced from AA

A

glutamine

arginine

Alanine

aspartate

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43
Q

Intellectual disability
Hx of seizures
Abnormal pallor of substantia nigra, locus ceruleus and vagal nucleus dorsalia

A

Phenylalanine hydroxylase deficiency

PKU

Cant convert phenylalaine to tyrosine

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44
Q

Acute compartment syndrome (ACS) affects what in the leg

A

Foot extensors
Anterior tibial A.
Deep peroneal (Fibular) nerve

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45
Q

Pleiotrophy

A

One mutation multiple things wrong w/ person

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46
Q

Takes place in cytosol vs mitochondria

A

Cytosol

  • Glycolysis
  • FA synthesis
  • Pentose phosphate pathway

Mitochondria
- beta oxidation of fatty acids
- citric acid cycle
carboxylation of pyruvate (gluconeogenesis)

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47
Q

Interferon alpha and beta do what

A

halt protein synthesis

Only works on dsDNA

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48
Q

Anemia
Hypercoagulability
Pancytopenia

A

Paroxysmal nocturnal hemoglobinuria (PNH)

Mutation PIGA
Deficiency: glycosylphosphatidylinositol (GPI) anchor
Deficiency: CD55 CD59

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49
Q

Tx Manic depression

A

Valproic acid
Lithium
Carbamazepine

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50
Q

Replicative process

1) DS dna –> DS dna template –> ds DNA progeny
2) DS dna -> +RNA template -> partially ds-DNA
3) ssDNA –> ds DNA template –> ss DNA progeny
4) ss +RNA –> ds DNA template –> ss +RNA progeny
5) ss +RNA –> - RNA template –> ss + RNA progeny
6) ss -RNA –> +RNA template –> ss -RNA progeny

A

1) Adenovius, herpesvirus, poxvirus
2) Hepatitis virus
3) Parvovirus B19
4) Retroviruses (HIV)
5) poliovirus
6) Influenza virua, measles virus, rabies virus

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51
Q

Polyostotic Fibrous dysplasia

associated with

A

Bone replaced by collagen and fibroblast

Assoc with McCune Albright syn

  • Precocious puberty
  • Cafe au lait
  • Fibrous dysplasia bone
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52
Q

Fibromyalgia

A

Excess tenderness at 11 of 18 sites
Fatigue

Tx. Pregabalin, milnacipran

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53
Q

cellulitis tx

  • description
  • organisms
  • MRSA
  • non-MRSA
A

Painful tender to touch Rapidly spreads

S. Aureua
S. Pyogenes

Non-MRSA( no abscess)
- oral dicloxacillin, cephalexin

MRSA:

  • oral trimethoprim/sulfamethoxazole
  • clindamycin
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54
Q

Precocious puberty
Cafe au lait spots
Fibrous dysplasia bone

A

McCune albright syndrome

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55
Q

Necrotizing fasciitis organism

Tx

A

Strep. pyogenes
Anaerobic bacteria

Tx: Debridement
IV carbapenem
clindamycin

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56
Q

Painful flaccid blister

biopsy shows
Ab against
test

unique feature

A

Pemphigus vulgaris

acantholysis
Ab desmosomes
Positive Nikolsky sign

oral lesions

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57
Q

Tight raised blister

biopsy shows
Ab against
test

unique feature

A

[Bullous pemphigoid- Tight raised blister]

  • Ab to hemidesmosomes
  • Eosinophils within blister
  • Negative nikolsky
  • no oral lesion
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58
Q

Blister IgA in tips of dermal papillae

A

Dermatitis herpetiformis

assoc w/ celiac

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59
Q

Pruritic, purple, polygonal papules and plaques

  • microscopically see
  • assoc with
A

Lichen planus

Sawtooth pattern at dermal-epidermal junction

Hepatitis C

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60
Q

Erythema nodosum assoc with

A

Painful raised lesions on shins

Sarcoidosis, histoplasmosis, Tb, leprsy

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61
Q

Erythema multiforme

A

Target lesions

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62
Q

Ligaments of ovaries/ uterus with no vessels

A

Round ligament of uterus

  • gubernaculum
  • uterus thorugh inguinal canal to labia majorum

Ovarian ligament

  • ovary to uterus
  • gubernaculum
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63
Q

Indirect inguinal hernia

Direct inguinal hernia

A

Indirect inguinal hernia

  • Most common
  • Congenital due to failure of closure of processus vaginalis
  • Protrude through deep inguinal ring, lateral to inferior epigastric vessels and pass through inguinal canal

Direct inguinal hernia

  • Weakening of abdominal wall in Hesselbach’s triangle
  • Increase pressure heavy lifting
  • Directly through abdominal wall medial to inferior epigastric vessel, exit out superficial inguinal ring
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64
Q

Genital homologs

1) Glans penis
2) Corpus spongiosum and corpus cavernosum
3) Bulbourethral (Cowper) glas
4) Prostate gland
5) Ventral shaft of penis
6) Scrotum

A

1) Glans penis= glans clitoris
2) Corpus spongiosum and corpus cavernosum= vestibular bulbs
3) Bulbourethral (Cowper) glands= Greater vestibular (Bartholin) glands
4) Prostate gland= Urethral and paraurethral (skene) glands
5) Ventral shaft of penis= Labia minora
6) Scrotum= Labia majora

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65
Q

Amenorrhea

Loss of smell

A

Kallman syndrome

Defect of X linked KAL chain
Decrease GnRH –> Low LH and FSH

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66
Q

Prostatitis or Epididimitis

  • Organism
  • Tx
A

<35: Gonorrhea, Chlamydia

> 35: E coli, klebsiella, serratia, enterobacter, proteus

GC/Chlamydia: Ceftrixone (IM) then doxycycline
Ecoli: Fluoroquinolone
Tx: Fluoroquinolone (levofloxacin), TMP-SMX

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67
Q

Byproducts of MAO and COMT enzymatic activity of dopamine, NE, Epinephrine

A

Dopamine –> homovanillic acid (HVA)

NE –> Vanillylmandelic acid (VMA)

Epi –> Metanephrine

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68
Q

Smooth white plaques on vulva
Parchment paper
Fusion of labia majora and minora

  • due to
  • tx
  • risk of
A

Lichen sclerosus

Thinning of epidermis

Corticosteroids

SCC of vulva

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69
Q

Koilocytosis

  • looks like
  • assoc with (3)
A

Enlarged nuclei and perinuclear halo
Fried egg

Seminoma
Dysgerminioma
HPV

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70
Q

Rosettes of tumor cells surrounding eosinophilic spaces

A

Call- Exner body

Granulosa cell tumors

yellow
produce estrogen

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71
Q

Meigs syndrome

A

Ovarian tumor
Ascites
Pleural effusion

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72
Q

Bloody brown vaginal discharge

  • arises from
  • metastasizes to
A

Choriocarcinoma

Complete mole, miscarriage, normal pregnancy, ectopic pregnancy

Lung

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73
Q

Trisomy 21 lab values

Trisomy 18

Trisomy 13

A

Decrease AFP
Decrease estriol
Increase hCG
Increase inhibin

Decrease AFP
Decrease estriol
Decrease hCG

Decrease hCG, PAPP-A

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74
Q

Kleinfelter labs

A

Testicular atrophy

Decrease testosterone
Decrease inhibin
Increase FSH

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75
Q

High-pitched crying and newing

also seen (4)

Mutation

A

Cri-du-chat syndrome

Microcephaly
Severe intellectual disability
Epicanthal folds
Cardiac abnormalities

5p deletion

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76
Q

William syndrome

  • characteristics (5)
  • mutation
A 
Elfin facies
Intellectual disability 
Hypercalcemia (hypersensitivity to Vit D) 
Good verbal skills 
Friendly w/ strangers

Microdeletion of long arm of chr 7

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77
Q

Bilateral acoustic neuroma
Hearing loss
Tinnitus

mutation

A

NF2

Chr 22 AD

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78
Q

Cafe au lait spots
Neural tumor
Lisch nodules (pigment hamartoma in eye)
Scoliosis

mutation

A

NF I

AD mutation chr 17

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79
Q 
Facial lesions
Hypopigmented ash leaf spots 
Cortical and retinal hamartomas 
seizures 
intellectual diability
A

Tuberous sclerosis

Mutation of hamartin or tuberin gene

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80
Q

AD disease fits

1) Associated with mitral valve prolapse, liver disease, berry aneurysms
2) Neural tumors and pigmented iris hamartomas
3) Very strong association with colon cancer
4) MI before age 20
5) Hemangioblastomas of retina/ cerebellum/ medulla
6) Increased MCHC, hemolytic anemia
7) Bilateral acoustic neuromas
8) Facial lesions, seizure disorder, cancer risk
9) Caudate atrophy, dementia
10) Cystic medial necrosis of aorta
11) Defect of FGF receptor 3
12) Assoc w/ floppy mitral valve, dissecting aortic aneurysm

A

1) ADPKD
2) NF1
3) Familal adenomatous polyposis
4) Familial hypercholestrolemia
5) VHL
6) Hereditary spherocytosis
7) NF2
8) Tuberous sclerosis
9) Huntington’s dis
10) Marfan syn
11) Achondroplasia
12) Marfan syndrome

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81
Q

Painless papules on lower abdomen
peripheral neuropathy
glomerulopathy (renal failure)

A

Fabry disease

Deficient: alpha- galactosidase

Accumulation: ceramide trihexoside; globotriaosylceramide

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82
Q 
Hepatosplenomegaly
Cherry red spot 
Painful bony lesions 
Anemia 
Fatigue 
thrombocytopenia

-Microscopically

A

Gaucher disease

Deficient: glucocerebrosidase

Accumulation: Glucocerebroside

Prominent blue cytoplasmic fibrils (crumpled tissue paper)

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83
Q 
Hepatosplenomegaly
Cherry red spot 
Thrombocytopenia 
Ataxia 
Dysarthria 
Dysphagia 
Gradual worsening of intellectual fxn
  • Mircoscopically
A

Niemann-Pick disease

Deficient: Sphingomyelinase

Accumulation: sphingomyein

Foam cells

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84
Q

Irritability
Regression of motor skills
Macrocepahly
Cherry red spot

A

Tay-Sachs

Deficient: hexosaminidase A

Accumulation: GM2 ganglioside

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85
Q 
Peripheral neuropathy
Seizures 
Optic atrophy 
Developmental delay 
Weakness
A

Krabbe disease

Deficient: galactocerebrosidase

Accumulation: galactocerebroside

86
Q

Muscle wasting
Weakness
Progressive vision loss
Dementia

A

Metachromatic leukodystrophy

Deficient: arylsulfatase

Accumulation: cerebroside sufate

87
Q 
Progressive deterioration
Coarse facial features 
Hepatosplenomegaly 
Intellectual disability 
Poor growth (dwarfism) 
Corneal clouding
A

Hurler syndrome

Deficient: alpha-L-iduronidase

Accumulation: heparan sulfate and dermatan sulfate

88
Q 
2 y.o
Progressive deterioration 
Coarse facial features 
Hepatosplenomegaly 
Intellectual disability 
Poor growth (dwarfism) 
Aggressive behavior
A

Hunter syndrome

Deficient: iduronate sulfatase

Accumulation: heparan sulfate and dermatan sulfate

89
Q

Hepatomegaly
Hypoglycemia
Seizure
Lactic acidosis

A

Von Gierke

Glycogen storage disease

90
Q

Cardiomegaly

Severe hypotonia

A

Pompe disease

Lysosomal alpha-1,4, glucosidase deficiency

91
Q

What type lysosomal storage diseases have myelin sheath pathology leading to peripheral neuropathy

A

Krabbe disease

Metachromatic leukocystrophy

92
Q

Large bulky breast tumor

Leaf like projections on histology

A

Phyllodes tumor

93
Q

Signet ring cells
ER and PR positive
Breast tumor

A

LCIS

94
Q

Heat stable toxin

A

ETEC

Yersinia enterocolitica

95
Q

What ovarian tumor matches each of hte following

1) Estrogen secreting leading to precocious puberty
2) Produces AFP
3) Psammoma bodies
4) Testosterone secreting leading to virilization

A

1) Granulosa theca cell tumor
2) Yolk sac tumor
3) serous cystadenocarcinoma
4) Sertoli-leydig cell tumor

96
Q

T cell activation

A

2 signals

TCR and CD4/CD8 binds to MHC II/I

B7 protein (CD80/86) on APC binds to CD28 of T cell

97
Q

Immune dysregulation

Polyendocrinopathy (IPEX)

A
  • Type I diabetes
  • Thyroiditis
    Enteropathy
  • Severe diarrhea
  • Failure to thrive
    X linked

Loss FOXP3
Lack TREG

98
Q

Male infant
Severe chronic diarrhea
Neonatal diabetes or thyroiditis
Eczema

A

IPEX

Mutation of FOXP3

99
Q

NK cells activity induced by

A

IL-12
IL-2
IFN-alpha
IFN-beta

100
Q

Opsonization

A

C3b

IgG

101
Q

Stimulates mast cells and basophils (complement)

A

C3a

102
Q

C5a does what

A

Neutrophil chemotaxis

103
Q

Deficiency of C1 esterase inhibitor

Deficiency of C3

Deficiency of MAC

Deficiency of DAF

A

1) Def C1 esterase inhibitor
- Hereditary angioedema
- Elevated bradykinin
- Never take ACE inhibitor, also increase bradykinin levels

2) Def C3
- Recurrent pyogenic sinus infections and resp tract infections
- encapsulated organisms
- Strep pneu, Haemophilus influ
- Increased sensitivity to type II infections

3) Neisseria bactermia susceptible

4) Def in DAF (CD55)
- Protect self form spontaneous complement activation through alternative pathway
- Paroxysmal noctural hemogobinuria (PNH)

104
Q

Macrophages secrete

A

IL-1, IL-6, TNF-alpha (acute phase)

IL-12

105
Q

Neutrophils chemotactic agents

A

IL-8
C5a
Leukotriene B 4

106
Q

Differential diagnosis Eosinophilia pneuonic

A

CANADA P

Collagen vascular disease (PAN, dermatomyositis)

Atopic disease (allergies, asthma)

Neoplasm

Adrenal insufficiency (addison dis)

Drugs (NSAIDS, penicillins, cephalosporins)

Acute interstitial nephritis

Parasites (stronglyloides, ascaris)

HIV
Hyper igE
coccidioidomycosis

107
Q

Recurrent candida infections and respiratory infections
Diarrhea
Failure to thrive
No thymus seen on imaging

  • deficiency
  • decrease in
A

Severe combined immunodeficiency (SCID)

Decrease B and T cells

Adenosine deaminase deficiency

108
Q

6 month old boy
Recurrent bacterial infections
Low immunoglobulins

  • defect
  • inheritence
A

Bruton agammaglobulinemia

Defective tyrosine kinase
X linked

109
Q

Cant follow object
Talangiectasias of face
Recurrent infections

clinical (2)
sensitive (2)
risk (2)
elevated

A

Ataxia-telangiectasia

IgA deficiency
T cell deficiency

Cerebellar ataxia 
Telangiectasias after 5 y.o 
Radiation sensitivity (avoid x ray) 
Increased risk: lymphoma leukemia 
-Elevated AFP (8 months)
"ATAXIA"
Ataxia 
Telangiectasia, tracking eye difficulties 
Acute leukemia and lymphoma 
Xray sensitivity 
IgA deficiency 
AFP
110
Q

Wiskott-Aldrich syndrome mneumonic

A 
WAITER
Wiskott 
Aldrich 
Immunodeficiency 
Thrombocytopenia and purpura 
Eczema 
Recurrent pyogenic infections

X linked
Low IgM, high IgA

111
Q

1) Defect tyrosine kinase
2) Elevated AFP
3) Adenosine deaminase deficiency
4) Low IgM, high IgA
5) Lack NADPH oxidase
6) Defect LYST gene
7) STAT3 mutation
8) Abnormal integrins
9) Two rows of teeth
10) Delayed separation umbilical cord

A

1) Bruton agammaglobulinemai
2) Ataxia-telangiectasia
3) SCID
4) Wiskott-Aldrich sydrnome
5) Chronic granulomatous disease (CGD)
6) Chediak-Higashi sydnrome
7) Hyper IgE syndrome (Job syn)
8) Leukocyte adhesion deficiency
9) Hyper IgE syndrome (Job syn)
10) Leukocyte adhesion deficiency

112
Q

Giant cytoplasmic granules in PMN
Partial albinism
Recurrent respiratory tract and skin infections
Neurologic disorders

A

Chediak- Higashi syndrome

LYST gene defect
(lysosomal transport)

Defective phagocyte lysosomes

113
Q 
High level IgE and eosinophils
Eczema 
Recurrent cold S. aureus abscesses 
Coarse facial features 
Two rows teeth
A

Hyper IgE syndrome

STAT3 signaling protein mutation

Impaired differentiation of TH12
Impaired recruitment of neutrophils

114
Q

Large phagosomal vesicles with neutrophils

A

Chediak=Higashi disease

115
Q

Infantile flaccid paralysis

A

Most infants die before 1 year

AR

Werdnig-hoffman

Death of neuron in the anterior horn of Spinal cord

116
Q 
Rapidly progessive weakness
Muscle atrophy 
Fascicultations 
Spasticity 
Difficulty speaking and swallowing
  • Defect
  • Tx
A

ALS

Superoxide dismutase 1

Riluzole

  • lengthens survival
  • decrease glutamate release
117
Q

Involuntary flailing of one arm

A

Hemiballismus

Subthalamic nucleus

118
Q

Parkinson effect on NT

A

Loss of dopamine

119
Q

Huntington effect on NT

A

Excessive excitation by glutamate –> death of neurons

Increase dopamine
Decrease GABA
Decrease ACh

120
Q

Pyruvate kinase deficiency

A

Pyruvate kinase needed to convert phosphoenolpyruvate to pyruvate, resulting in generation of ATP

Deficiency means less ATP, less gradient

Disruption of RBC membrane

Splenic red pulp hyperplasia to remove RBCs

Splenomegaly

121
Q

Heteroplasmy

A

condition of having different mitochondrial genomes

122
Q

Posterior duodenal wall ulcer erodes into

A

Gastroduodenal artery

123
Q

Hepatoduodenal ligament contains

A

Common bile duct
Hepatic artery
Portal vein

124
Q

Emybryonic origin of each

1) Anterior pituitary
2) Posterior pituitary
3) Parotid glands
4) Sublingual glands
5) Sclera
6) Lens
7) Retina
8) Mammary glands
9) Sweat glands

A

1) Anterior pituitary= surface ectoderm
2) Posterior pituitary= neural tube
3) Parotid glands= surface ectoderm
4) Sublingual glands= endoderm
5) Sclera= neural crest
6) Lens= surface ectoderm
7) Retina= Neural tube
8) Mammary glands= surface ectoderm
9) Sweat glands= surface ectoderm

125
Q

Post translational modifications of proteins and proteoglycans in golgi apparatus

A

1) GLycosylation of core proteins to form proteoglycans
2) Sulfation of proteoglycans and selected tyrosine residues
3) Add O-oligosaccharides to serine and threonine residues
4) Adds mannose-6-phosphate to asparagine residues located on lysosomal enzymes

126
Q 
Corneal clouding
coarse facies
hepatosplenomegaly
skeletal abnormalities
restricted joint movement
A

I cell disease

Deficiency of mannose phosphorylation

No mannose-6-phosphate to target lysosomal proteins

Secreted out of cell instead of into lysosomes

127
Q

Which arachidonic acid product causes each of the following effects

1) Increased bronchial tone
2) Increased platelet aggregation
3) Decreased platelet aggregation
4) Increased uterine tone
5) Decreased uterine tone
6) Increased vascular tone
7) Decreased vascular tone

A

1) LTD4, LTE4, LTC4
2) TXA A2
3) PGL2
4) PGE2, PGF2alpha
5) PGI2
6) TXA A2
7) PGI2, PGE1

128
Q

Damaged in Guillain-Barre syndrome

CSF changes

Classic manifestations

A

Schwann cell

Normal cell count
Increase protein

Symmetric ascending muscle weakness
Bilateral facial paralysis (palsy)
Preceded by infection
No sensory loss

129
Q

Holoproencephaly

  • conditions
  • mutation
A

Trisomy 13 patau
Fetal alcohol

SHH mutation

130
Q

Enlarged posterior fossa
Cerebellar vermis fails to develop
Dilation of 4th ventricle

A

Dandy Walker

131
Q

Brocas

A

Language production

Understand
Cant talk

132
Q

Wernicke’s area

A

Comprehension of language

Can talk in sentences
Doesnt make sense

133
Q

Nystagmus
Ataxia
Encephalopathy
Amnesia

A

Wernicke-Korsakoff syndrome

Thiamine deficiency (Vit B) 
- alcoholics

Mamillary body lesion

134
Q

Merkel corpuscle

  • adaption
  • sensation
  • location
A

Slow
Static pressure
Superficial

135
Q

Meissner corpuscle

  • adaption
  • sensation
  • location
A

Rapid
Light tough
Superficial

136
Q

Ruffini

  • adaption
  • sensation
  • location
  • shape
A

Slow
Pressure, position sense
Deep
Spindle shaped

137
Q

Pacinian

  • adaption
  • sensation
  • location
  • shape
A

Rapid
Vibration
Deep
Onion-shaped

138
Q 
Abrupt onset of pain
HA at the eyebrow 
Colored halos 
Rainbows of light 
Red teary eye, hazy cornea, fixed 
Mid dilated pupil (not reactive to light) 
Firm to palpation
A

Acute angle-closure glaucoma

Lens against iris

139
Q

Acute otitis externa organisms

A

S. aureus

Pseudomonas aeruginosa

140
Q

Acute otitis media organisms

A

S. pneumonia
Nontypable Haemophilius influenzae
M. Catrrhalis

141
Q

Awake (open)
Awake (closed)
Non-REM stages
REM stages

A

Awake (open): beta waves

Awake (closed): alpha

Stage N1: Theta waves

Stage N2: Sleep spindles and K complexes
- Bruxism (teeth grinding)

Stage N3: Delta waves
- Sleepwalking, night terror, bedwetting (enuresis)

REM: Beta waves

142
Q

Upper motor neuron lesion classic signs

LMN classic signs

A

UMN

  • Spastic paralysis
  • Hyperreflexia

LMN

  • Flaccid paralysis
  • Hyporeflexia
  • Atrophy
  • Fasciculations
143
Q

Gastrin secreted by

Secretion stimulated by

A

G cells of antrum

Phenylalanine
Tryptophan
Calcium

144
Q

A 54 y.o male presents with abdominal pain, diarrhea, bilateral lower extremity edema and 5 lb weight loss over last 3 months. An esophagogastroduodenoscopy is performed and cerebriform rugae are observed throughout the body of the stomach. A biopsy of the region shows an abundance of mucous cells forming glands in the shape of corkscrews, but very few parietal and chief cells. most likely diagnosis is

  • increased risk of

5 things

A

Menetrier disease

Gastric adenocarcinoma

  1. Hypertrophy of mucous producing cells, rugae of stomach hypertrophy look like gyri
  2. Atrophy of parietal cells
  3. Decrease gastric acid production
  4. Enteric protein loss –> hypoalbuminemia –> edema
  5. Increase risk of gastric adenocarcinoma
145
Q

What enzymes do obligate anaerobes lack

A

Catalse

Superoxide dismutase

146
Q

Stimulates gallbladder contraction

Faciliates pancreatic HCO3 secretion

Increase insulin release

Inhibits secretion of all GI hormones

Relaxes smooth muscle and sphincter through out GI

Produces peristaltic waves

A

Cholecystokinin (CKK)

  • I cells
  • Gall bladder contraction, decrease gastric emptying, increase pancreatic secretion

Secretin

  • S cells
  • Neutralize gastric acid
  • Decrease gastric acid production

Gastric inhibitory peptide (GIP)

  • K cells
  • Decrease gastric acid production
  • Increase insulin release

Somatostatin

  • D cells in GI tract
  • delta cells in pancreas

Vasoactive intestinal peptide (VIP)

  • Relaxes smooth m and sphincter
  • Increase secretion of electrolytes and water
  • Copious watery diarrhea

Motillin

147
Q

Location of absorption

Iron
Folate
Vit B12

A

Duodenum

Duodenum and jejunum

Terminal ileum

148
Q 
Deficiency ApoB-48, ApoB-100
Malabsorptive 
Steatorrhea 
Failure to thrive 
Ataxia 
acanthocyes "spur cell" on microscope 
Lipid-laden enterocytes
  • inheritence
  • mutation
  • missing
  • later manifestations
  • tx
A

Abetalipoproteinemia
AR
Mutation in gene that encodes for microsomal transfer protein (MTP)

Chylomicrons, VLDL and LDL absent

Retinitis pigmentosa
progressive ataxia
acanthocytosis

Restriction of long chain fatty acids
Large doses oral Vit E

149
Q 
Defective ApoB-100
Increased LDL, cholesterol, VLDL 
Premature atherosclerosis 
Tendon xanthomas 
Xanthelasmas
A

Familial hypercholesterolemia

  • AD
  • Absent LDL receptors

Defective LDL particle uptake by hepatocytes

150
Q 
Deficiency ApoC-2
Increased chylomicrons 
Acute pancreatitis 
Lipemia retinalis 
Eruptive xanthomas
A

Familial
chylomicronemia
AR

Creamy white retinal blood vessels

Localized lipid deposits in skin, red bumps

151
Q

Deficiency ApoE
Premature atherosclerosis
Lipid droplets in palms of hand
Lipid laden macrophages

What is impaired

A

Familial dysbetalipoprotenemia

Chylomicron remnant uptake by liver cells

Increase chylomicron and VLDL remnants

152
Q

Gardner syndrome (4)

A

Familial adenomatous polyposis
Bone and soft tissue tumors
Lipomas
Retinal hyperplasia

153
Q

Ventral pancreatic bud –>

Dorsal pancreatic bud –>

A

Ventral –> uncinate process, part of head of pancreas, proximal portion of main pancreatic duct

Dorsal –> Body and tail, most of head (superior aspect) , small accessory pancreatic duct

154
Q

Painless jaundice

-markers

A

Pancreatic adenocarcinoma

CD19-9
CEA

155
Q

What allows bilirubin to be taken out of blood

A

UDP-glucuronyl transferase

156
Q

A healthy 25 y.o man comes in to routine examination. His lab tests show a serum bilirubin level of 4 mg/dL and a direct bilirubin of 0.3 mg/dL. Liver fxn tests are nromal. Which of hte following explains the serum and indirect bilirubin levels

(A) Extrahepatic biliary obstruction
(B) Glucuronosyltransferase defi ciency
(C) Heme oxygenase defi ciency
(D) Intrahepatic biliary obstruction
(E) Liver cell damage
A

B. Glucuronosyltransferase deficiency

Gilbert

157
Q

New born presents with kernicterus, jaundice adn elevation of serum unconjugated bilirubin. Patient dies after 1st birthday. Most likely had a deficiency of?

A

Uridine diphosphate-glucuronsltransferase

Crigler-Najjar tyep I

158
Q 
Cirrhosis
Diabetes 
Hyperpigmentation 
CHF 
Testicular atrophy
A

“Bronze diabetes”

Hemochromatosis

INcreased risk of HCC

AR disease
- HFE gene –> makes hepcidin

Increased ferritin

159
Q

ANA

anti-smooth muscle Ab

A

Autoimmune hepatitis

Type 1

160
Q

Anti-liver-kidney microsomal Ab

Anti-liver cytosol antibody

A

Autoimmune hepatitis

Type 2

161
Q

Beads on a string
+ pANCA

  • due to
  • tx
A

Primary sclerosing cholangitis (PSC)

COncentric fibrosis of bile ducts

liver transplant

162
Q
  1. A 46-year-old white woman with rheumatoid arthritis
    presents with severe pruritus. She denies any history of alcohol or drug use. On physical examination, she is found to have icteric sclera, palpebral xanthomas, and hepatomegaly. She tests positive for antimitochondrial antibody and increased alkaline phosphatase activity. Which of the following is most likely responsible for
    this patient’s presentation?
    (A) Destruction of intrahepatic bile ducts
    (B) Hepatic parenchymal destruction
    (C) Obstruction of extrahepatic bile ducts
    (D) Portal vein thrombosis
    (E) Stenosis of extrahepatic and intrahepatic
    bile ducts
A

(A) Destruction of intrahepatic bile ducts

The triad of jaundice (icteric sclera), hypercholesterolemia (palpebral xanthomas), and pruritus with positive antimitochondrial antibody titers and elevated alkaline
phosphatase activity is classic for primary biliary cirrhosis.

Primary biliary cirrhosis is a cholestatic disease with chronic, progressive, and often fatal liver injury characterized by the destruction of medium-sized
intrahepatic bile ducts with eventual liver failure.

Liver transplantation is the definitive treatment.

163
Q

Beta 2 stimulation

A

INcrease radius

Decrease resistance

164
Q

Defects in DNA mismatch repair

A

Lynch syndrome

increased risk of hereditary non-polyposis colorectal cancer (HNPCC)

165
Q

Manic vs hypomanic

A

Manic

  • severe
  • 1 week
  • May have psychotic features

Hypomanic
- >= 4 consecutive days

166
Q

Failure to thrive
Developmental delay
Cant lift head
Orotic acid crystals

Supplementation of what is needed?

A

Hereditary orotic aciduria

  • AR
  • disorder of pyrimidine synthesis
  • defect in uridine 5- monophosphate (UMP) synthase

Supplement Uridine

167
Q

1) Linear IgG and C3 deposits on IF microscopy
2) Glomerular basement membrane splitting
3) Glomerular basement fibrin deposition
4) Subepithelial humps on electron microscopy
5) Diffuse capillary wall thickening on light microscopy
6) Glomerular crescents on LM
7) C3 granular straining along GBM

A

1) Anti-GBM disease
2) Membranoproliferative glomerulonephritis (MPGN) and Alport syndrome
3) Rapidly progressive glomerulonephritis (anti-gbm)
4) Poststreptococcal glomerulonephritis
5) Membranous glomerulopathy
6) Rapidly progressive glomerulonephritis, Anti- GBM disease
7) Poststreptococcal glomerulonephritis

168
Q

(+) for
synaptophysin
Chromogranin
neuron-specific enolase

A

Small cell carcinoma of the lung

Carcinoid tumor

169
Q

What can you suffer from if to quick nitroprusside infusion

tx

A

cyanide toxicity

tx sulfur

170
Q 
Lethary confusion
Persistent atrial fibrillation 
CHF 
Nauseas and decreased appetitie, vomiting 
Vision difficulties

Hyperkalemic

A

Digoxin toxicity

171
Q

RB mutation

BRAF

HER2

KRAS

RET

A

RB: Retinoblastoma, osteosarcoma

BRAF: Hairy cell luekemia, melanoma

HER2: breast cancer

KRAS: colorectal cancer, non-small cell lung cancer

RET: MEN2

172
Q

What can not be metabolized to pyruvate and cause more lactic acid if pyruvate dehydrogenase deficiency

A

Lysine
Leucine

Ketogenic AA

173
Q

Branches of deep external pudendal artery supply the

External iilac vein receives drainage from

Left colic artery branches off, supplies

The superior vesical artery supplies

A

Supply the scrotum and labia majora

External iliac vein receives drainage from the inferior epigastric and deep circumflex iliac veins, serve the anterior abdominal wall and iliac crest respectively

Branches of inferior mesenteric a. to supply the transverse and descending colon

portions of the urinary bladder and ductus deferens

174
Q

Vit B12 deficiency
Type 1 DM
Hashimoto thyroiditis

A

Pernicious anemia

CD4 mediated immune response against parietal cells

Loss of parietal cells mass

  • decrease in intrinsic factor
  • decreased secretion of hydrochloric acid

Elevated pH that stimulates gastrin secretion

175
Q

Vomiting/ nausea due to

A 
GI irritation (infections chemotherapy, distention)
- increase serotonin release and activation of 5HT 
Central nausea (migraines) 
- use dopamine receptor antagonist to stop

Vestibular nausea

  • dopamine receptor stimulation and H1 stimulation
  • promethazine tx both
176
Q

Smokers have 5x the risk of esopahgeal carcinoma compared to non smokers (relative risk = 5.0, 95% CI 2.9-7.1)

What percentage of SCC of the esophagus in smokers can be attributed to smoking?

A

Attributable risk percentage in exposed (ARP)

ARP exposed= 100 x (risk in exposed - risk in unexposed)/ risk in exposed

ARP= 100 x [(RR-1)/ RR]

ARP= 100 x [(5-1)/5]= 80%

177
Q

Multiple ulcers
Mucosal erosions
Large cells iwth basophili cintranuclear and intracytoplasmic inclusions

A

CMV

herpesvirus

178
Q 
Action potential conduction velocity
Point 1- 0.05 
Point 2 - 0.3 
Point 3- 1.1 
Point 4- 2.2

Points correspond to what location

A

AV node

Ventricular muscle

Atrial muscle

Purkinje system

179
Q 
Pleuritic chest pain
SOB 
Cough 
Tachypnea 
Tachycardia 
Low grade fever

Elevated D dimer
Normal CXR
Large A-a gradient

ECG?

A

Pulmonary embolism (PE)

ECG S1Q3T3

  • deep S in lead I
  • large Q and inverted T in lead III
180
Q

S1Q3T3 ECG

A

Pulmonary embolism

181
Q

What disease is associated with the Ab

1) Anti- mitochondrial
2) Anti- neutrophil cytoplasmic
3) Antiplatelet Ab

A

1) anti-mitochondrial
Primary biliary cholangitis

2) Anti-neutrophil cytoplasmic

cANCA
- granulomatosis w/ polyangiitis

pANCA

  • Eosinophilic granulomatosis with pollyangiitis (churg-strauss)
  • Microscopic polyangiitis
  • Pauci-immune crescentric glomerulonephritis
  • primary sclerosing cholangitis
  • ulcerative collitis

3) Immune thrombocytopenic purpura (ITP)

182
Q 
Developmental delay
Difficulty seeing board 
Tall, thin habitus 
Elongated limbs 
Lens subluxation 
Thrombus and infarct

Supplement?

A

Homocystinuria

Error of methionine metabolism

AR deficiency cystathionine beta-synthase that requires pyridoxine (Vit B6) as cofactor

183
Q

A 6-year-old girl is found to be nearsighted during
a vision screening at school, and the school
nurse tells the parents the child should be fi tted
for corrective lenses. Her mother is upset
because her daughter is already much taller
than her classmates, has an awkward gait, and
was recently diagnosed with scoliosis. She is
afraid that the glasses will only add to her
daughter’s problems at school, where her classmates
frequently tease her. When the ophthalmologist
observes that the patient’s right lens is
dislocated, he suspects that her symptoms are
in fact related to an enzyme defi ciency. As a result
of this defi ciency, which of the following
amino acids is essential in this patient’s diet?
(A) Cysteine
(B) Lysine
(C) Methionine
(D) Tryptophan
(E) Tyrosine

A

The correct answer is A. Homocystinuria is an
inborn error of metabolism caused by a defect
in cystathionine synthase, the enzyme that
converts homocysteine to cystathionine. Cystathionine
is later converted to cysteine, so patients
with this enzyme defi ciency are required
to supplement their diets with exogenous
cysteine. In addition to marfanlike features and
subluxation of the lens, these patients are at increased
risk of a variety of cardiovascular derangements,
includin

184
Q

Skin lesion on eyelid
ma
Lipid laden macrophages

Assoc with

A

Xanthelasma

Associated iwth primary or secondary hyperlipidemias
- Primary biliary cirrhosis

185
Q

What mutation

1) Lung adenocarcinoma
2) CML, ALL
3) Follicular lymphoma
4) non-hodgkin lymphoma
5) Neuroblastoma
6) Melanoma
7) MEN 2A and 2B
8) Colorectal cancer assoc w/ FAP
9) Hairy cell leukemia
10) Osteosarcoma
11) Li-Fraumeni
12) Tuberous sclerosis
13) Burkitt lymphoma
14) Colon cancer
15) Diffuse large B cell lymphoma

A

1) ALK
2) BCR-ABL
3) BCL-2
4) BRAF
5) n-myc
6) BRAF, CDKN2A
7) RET
8) APC
9) BRAF
10) Rb
11) TP53
12) TSC1/2
13) c-MYC
14) KRAS
15) BCL-2

186
Q

p-ANCA

  • Ag
  • Ab

c-ANCA

  • Ag
  • Ab
A

p-ANCA

  • Myeloperoxidase (MPO)
  • MPO-ANCA

c-ANCA

  • Proteinase 3 (PR3)
  • PR3-ANCA
187
Q

Necrotizing vasculitis of lungs kidneys skin
Crescentic GN
Palpable purpura
+ p-ANCA

Doesnt have

A

Microscopic polyangiitis

No naropharyngeal involvement

188
Q 
Port wine stain
Intellectual disability 
Hemiplegia 
Calcification of outer boarder of brain 
Also see
A

Sturge-Weber disease
- affects capillaries

Seizures
Early onset glaucoma

Hemiplegia (paralysis one side body)

Leptomeningeal angioma

189
Q

Cohort study gives

A

Relative risk

A/A+B) / (C/ C+D

190
Q

Attributable risk (AR) equation

A

AR= incidence disease (exposed) - incidence of disease (unexposed)

AR= (A/ A+B) - (C/C+D)

191
Q

Odds ratio

A

(A/B)/ (C/D)

192
Q

Relative risk

A

Probability to getting disease in exposed group compared to unexposed group

(A/A+B) / (C/C+D)

193
Q

Absolute risk reduction (ARR)

A

(C/C+D) - (A/A+B)

194
Q

Number needed to harm

A

1/ AR

AR= (A/ A+B) - (C/C+D)

195
Q

Number needed to treat (NNT)

A

NNT= 1/ ARR

ARR= (C/C+D) - (A/A+B)

196
Q

Orotic acid in urine + elevated serum ammonia

  • inheritence
  • causes
A

Ornithine transcarbamylace deficiency

X linked recessive

Excess carbamoyl phosphate –> orotic acid

Hyperammonemia
Decreased BUN

No megaloblastic anemia

197
Q

Orotic acid in urine + normal serum ammonia

  • deficency
  • inheritence
  • feature seen
  • tx
A

Orotic aciduria

Deficiency of UMP synthase

AR

Megaloblastic anemia

Tx: Uridine supplementation

198
Q

Developmental milestones

3 m

6 m

9 m

12 mo

A

3 mo 3= before everything else

  • roll
  • hands together
  • laugh and squeal
  • smile

6 mo “Six= S’s”

  • Sit up
  • Switch objects between hands
  • Shmooze
  • Self feed
  • Stranger danger

9 mo “9= P’s (9 in penis)

  • Pull itself (crawl)
  • Pincer grasp
  • Papa
  • play
  • permance (object)

12mo “TWELVE= T’s”

  • Two legs (stand, walk)
  • Track ( object tracking), block in a cup
  • 2 words
  • 2 of use (separation anxiety)
  • drink from cup
199
Q

Muscle biopsy on patient reveals elevated glycogen levels, elevated fructose-6- phosphate, and decreased pyruvate. What enzyme is deficient?

A

Phosphofructokinase-1 deficiency

200
Q

Rate limiting enzymes

1) De novo pyrimidine synthesis
2) De novo purine synthesis
3) Glycolysis
4) Gluconeogenesis
5) Glycogen synthesis
6) Glycogenolysis
7) TCA cycle
8) Hexose monophosphate shunt

A

1) carbamoyl phosphate synthetase-2
2) glutamine PRPP amidotransferase
3) Phosphofructokinase -1
4) Fructose-1,6- bisphosphatase
5) Glycogen synthase
6) Glycogen phosphorylase
7) isocitrate dehydrogenase
8) glucose-6-phosphate dehydrogenase

201
Q

4

McArdle disease

A

Deficiency in glycogen phosphorylase

202
Q

What glycogen storage disease matches

1) Glycogen phosphorylase deficiency
2) Glucose-6-phosphatase deficiency
3) Lactic acidosis, hyperlipidemia, hyperuricemia (gout)
4) Alpha -1,6- glucosidase deficiency
5) alpha-1,4- glucosidase deficiency
6) Cardiomegaly
7) Diaphragm weakness leading to respiratory failure
8) Increased glycogen in liver, severe fasting hypoglycemia
9) Hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, and uric acid)
10) Painful muscle cramps, myoglobinuria with strenuous exercise
11) Severe hepatosplenomegaly, enlarged kidneys

A

1) McArdle
2) Von Gierke
3) Von Gierke
4) Cori disease
5) Pompe
6) Pompe
7) Pompe
8) Von Gierke
9) Cori
10) McArdle
11) Von Gierke

203
Q

Infantile cataracts
galactosuria
galactosemia

A

Galactokinse deficiency

Deficiency of galactokinase

Accumulation of galactito

204
Q 
Infantile cataracts
Failure ot thrive 
Jaundice 
Hepatomegaly 
Intellectual disability
A

Classic galactosemia

Deficiency of galactose-1-phosphate uridyltransferase

Excess Galactose-1- phosphate
Excess Galactose
Excess Galactitol

205
Q

Apo Proteins

1) Apo-B-48
2) Apo-B-100
3) ApoE
4) ApoA-I
5) ApoC-II

A

1) Helps release of chylomicrons from enterocytes
- Without you get abetalipoprotinemia

2) Helps VLDL secretion into circulation from liver
3) Mediates extra remnant uptake
4) Activates LCAT, found on HDL
5) Cofactor for lipoprotein lipase

206
Q

Abetalipoproteinemia

  • ineritence
  • deficency
  • mutation
  • lipoproteins
  • signs
  • intestinal biopsy
  • peripheral smear
A

AR

Decrease ApoB-48 and ApoB-100

Mutation MTP gene

Decrease chylomicron adn VLDL synthesis and secretion

Steatorrhea
Ataxia
Night blindness

Enterocytes swollen with TGs

Acanthocytosis of RBC
- Misshaped and spiky

207
Q

Which apolipoprotein

1) Activates LCAT
2) Mediates chylomicron secretion
3) Mediates VLDL secretion
4) Cofactor for lipoprotein lipase
5) Mediates uptaek of remnant particles

A

1) ApoA-1
2) ApoB-48
3) ApoB-100
4) ApoC-11
5) ApoE

208
Q

8

PKU

A

Deficiency of phenylalanine hydroxylase

Deficiency BH4

Musty odor
Intellectual disability
Light skin
Seizure

209
Q

Precursor for

1) Arginine
2) Tryptophan
3) Histidine
4) Glutamate
5) Glycine

A

1) Arginine –>
Creatine
Urea
Nitric oxide

2) Tryptophan
Niacin –> NAD/NADP (req B6)
Serotonin –> Melatonin

3) Histidine –>
Histamine (req B6)

4) Glutamate –>
GABA (Req B6)
Glutathione

5) Glycine –>
Porphyrin (Req B6) –> Heme

210
Q

A 9-month-old boy is brought to the emergency
department after his mother is unable to rouse
him. His past medical history is signifi cant for
the onset of seizures at the age of 4 months and
for a delay in reaching developmental milestones.
On examination, the patient is found to
have poor muscle tone and an enlarged liver.
Laboratory studies show a blood urea nitrogen
level of 3.2 mg/dL, a creatinine level of 0.4 mg/
dL, and a serum ammonia level of 300 mg/dL.
A plasma amino acid analysis fails to detect citrulline,
while his urinary orotic acid level is increased.
This patient suffers from a defi ciency
of which of the following enzymes?
(A) Argininosuccinate lyase
(B) Carbamoyl phosphate synthetase II
(C) Glutamate dehydrogenase
(D) Ornithine transcarbamoylase

A

D. Ornithine trasncarbamoylase

211
Q

What goes with there

1) homogentisic acid oxidase deficency
2) Alpha ketoacid dehydrogenase def
3) Tyrosine def
4) Decreased tryptophan
5) Phenylalanine hydroxylase def
6) Cystathionine synthase def
7) B6 def
8) COLA def
9) Tetrahydrobiopterin def
10) Decreased Niacin
11) Sweet smelling urine
12) Musty smell
13) Dark urine
14) Increased skin cancer
15) Lens dislocation
16) Cystine stones

A

1) Alkaptonuria
2) Maple syrup urine
3) Albinism
4) Hartnup
5) PKU
6) Homocystinuria
7) Homocystinuria
8) Cystinuria
9) PKU
10) Hartnup
11) Maple syrup urine
12) pKU
13) Alkaptonuria
14) Albinism
15) Homocystinuria
16) Cystinuria

212
Q

Beriberi

Dry vs wet

A

Thiamine deficiency

Dry Beriberi 
- peripheral neuropathy 
(toe drop, wrist drop, foot drop) 
- Muscle weakness 
- Hyporeflexia or areflexia

Wet Beriberi

  • Peripheral vasodilation
  • High output heart failure
  • peripheral edema
  • cardiomegaly

AM- STEP1 (20 decks)

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