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Mix1 Flashcards

1
Q

Enzyme deficiency found in Pompe’s Dz?

A

a-glucosidase (acid maltase)

Responsible for breaking glycogen down in the lysosome.

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2
Q

Enzyme def in McArdle Dz?

A

skeletal muscle glycogen phosphorylase

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3
Q

Enzyme def in Cori’s Dz?

A

Debranching enzyme (a-1,6 glucosidase)

Causes production of abnormal glycogen with very short outer chains. Causes hepatomegaly, hypotonia, and ketotic hypoglycemia.

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4
Q

Enzyme Def in von Gierke’s?

A

glucose-6-phosphatase

Basically stuck at the last step of glycogenolysis. Can’t convert G6P&raquo_space; glucose.

Causes severe fasting hypoglycemia and ^ glycogen in liver.

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5
Q

Do (+) ends of microtubules lie at the periphery of the cell or towards the center of the nucleus?

A

At the periphery

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6
Q

What kind of cytoskeletal protein is found in microvilli?

A

Actin thin filaments. Microvilli are small cylindrical expansions of the apical plasma membrane.

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7
Q

Protein A is a virulence factor that forms part of the outer peptidoglycan layer of S aureus. What is the function of protein A in S aureus infection?

A

Protien A binds with Fc portion of IgG at complement binding site, preventing complement activation&raquo_space; decreased C3b formation&raquo_space; impaired opsonization and phagocytosis.

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8
Q

___ is a secreted factor from staphylococcus species that causes destruction of neutrophils, Macs, and platelets.

A

Hemolysin

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9
Q

General MOA of superantigens:

A

Superantigens like enterotoxin or TSST can interact with MHC II and TCR outside of standard Ag binding sites&raquo_space; widespread T cell activation.

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10
Q

What vitamins should be given to exclusively breastfed infants to prevent vitamin deficiency?

A

Vit D (to prevent rickets).

  • Vit K is injected at birth to prevent hemorrhagic disease of the newborn.
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11
Q

Neuromuscular lesions, ragged skeletal muscle fibers, and lactic acidosis following a maternal inheritance pattern would be characteristic of what Dz?

A

mitochondrial encephalomyopathy.

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12
Q

Down Syndrome (tri21) is assoc with what types of gastrointestinal issues?

A

Duodenal atresia (“double bubble”) is the most common GI abnormality assoc with Down syndrome.

Also at risk for imperforate anus, Hirschsprung Dz, TE fistula, and celiac disease.

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13
Q

Is the obturator responsible for thigh (abduction/adduction/flexion/extension):

A

adduction

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14
Q

The obturator nerve arises from the lumbar plexus and carries fibers from the ___ segments:

A

L2-L4

Sensory component: medial thigh sensation
Motor component: adduction
- via obturator externus, adductor longus, adductor brevis, gracilis, pectineus, and adductor magnus.

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15
Q

What are the muscles and innervation responsible for thigh abduction?

A

Muscles = gluteus minimus and medius and tensor fascia lata.

These are supplied by superior gluteal nerve.

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16
Q

The superior gluteal nerve exits the pelvis through the ___

A

greater sciatic foramen (above piriformis)

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17
Q

The quadriceps femoris muscles are innervated by:

A

femoral nerve

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18
Q

Extension of the thigh is mostly accomplished by the ___ muscle:

A

gluteus maximus

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19
Q

What are the muscles and innervation responsible for thigh flexion?

A

psoas, iliacus, and Sartorius muscles

Psoas is directly innervated by lumbar plexus.
Iliacus is innervated by femoral nerve.

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20
Q

Inflammatory acne is due to colonization of the sebaceous glands with which type of bacteria/

A

Propionibacterium acnes.

Bacterial hydrolysis of triglycerides in sebum and release of inflammatory FA&raquo_space; inflammation.

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21
Q

Sebaceous glands are a type of (merocrine/apocrine/holocrine) gland:

A

holocrine.

Holocrine glands produce a type of lipid rich secretory product by lysis of the cell membrane and release of cytoplasmic contents.

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22
Q

Salivary glands are a type of (merocrine/apocrine/holocrine) gland:

A

Merocrine.

Merocrine glands (salivary and eccrine) release watery secretions via exocytosis with no loss of cytoplasmic membrane.

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23
Q

Mammary glands are a type of (merocrine/apocrine/holocrine) gland:

A

Apocrine.

Apocrine glands produce a secretory product by budding of membrane bound vesicles containing the secretory product.

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24
Q

MOA of Vanco:

A

Glycopeptide antibiotic that binds to D-ala D-ala, thereby preventing peptidoglycan cell wall synthesis.

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25
Q

Why is buproprion contraindicated in Rx of bulimia nervosa?

A

Buproprion = NERI (antidepressant) that is contraindicated in bulimia due to seizure risk.

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26
Q

Why should you avoid ACEi and ARB during pregnancy?

A

Because Low Ang II levels can result in fetal renal maldevelopment&raquo_space; reduced diuresis&raquo_space; oligohydramnios&raquo_space; Potter seq.

** Low Ang II can also cause impaired cranial vascularization and hypocalvaria (hypoplasia of skull bones)

27
Q

If ACEi and ARB are contraindicated for HTN management in pregnancy, what Rx can you use instead?

A

Methyldopa (a2 AR agonist) + Labetalol (B-AR antag)

Even though labetalol can cause fetal/neonatal bradycardia, hypoglycemia, and hypotension, neither med causes congenital malformation.

28
Q

Why should NSAIDs be avoided in pregnancy?

A

NSAIDs decrease production of prostaglandin E1 and should be avoided in the third trimester of pregnancy due to risk of premature closure of PDA.

29
Q

Why can’t the liver utilizes ketone bodies, even in starvation?

A

Liver can’t use ketone bodies because it lacks the enzyme succinyl CoA acetoacetate CoA transferase (aka thiophorase) needed to convert acetoacetate to acetoacetyl-CoA.

** Acetoacetyl CoA can then be converted to acetyl-CoA

30
Q

Hartnup disease is a metabolic deficiency of neutral amino acids (e.g. tryptophan) due to a inactivating mutations affecting ___

A

neutral amino acid transporters in the proximal renal tubular cells and on enterocytes.

> > neutral aminoaciduria and decreased absorption from the gut&raquo_space; pellagra like conditions.

31
Q

Inheritance pattern of Hartnup disease?

A

Autosomal recessive.

32
Q

Coenzymes FAD and FMN are produced by which B vitamin?

A

Riboflavin (B2)

Deficiency&raquo_space; sore throat, stomatitis, glossitis, normocytic anemia, and seborrheic keratitis.

33
Q

Thiamine acts as a cofactor for what 3 dehydrogenase enzymes?

A

think ATP

  1. a-KG dehydrogenase (TCA cycle)
  2. transketolase (PPP)
  3. pyruvate dehydrogenase (acetyl CoA)
34
Q

Haemophilus requires what cofactors to grow on Sheep’s blood agar?

A

Factor V (NAD+) and Factor X (hematin)

35
Q

Growth of Haemophilus on sheep’s blood agar can be achieved by cross streaking with what other organism?

A

S aureus. H influenza colonies can grow around the streaks of B-hemolytic S aureus colonies because the latter secrete Factor V (NAD+) into the medium and facilitate the release of additional Factor X (hematin) from the beta hemolysis of RBC.

36
Q

___ and ___ secreted from the hypothalamus help induce prolactin release:

A

thryotropin releasing hormone and VIP

37
Q

What type of growth media is required for isolation of Vibrio cholera?

A

Highly alkaline media (TCBS) - thiosulfate citrate bile salt agar

This is because cholera is highly acid labile and can be easily degraded in the stomach. This is why PPI use can increase risk of cholera infection.

38
Q

What is the Rx of choice for candida vaginitis?

A

Fluconazole

39
Q

What is the gram staining of lactobacilli?

A

Gram pos(+)

Forms normal component of vaginal flora at around pH 3.8-4.5

40
Q

How is vaginal pH changed in candida vaginitis?

A

Typically unchanged.

Just lack of gram pos (+) lactobacilli so candida can overgrow.

41
Q

A Dx of ‘high grade’ CIN means that atypical cells have reached what level of the cervical epithelium?

A

High Grade = cervical epithelial cells have invaded beyond the lower 1/3 of the cervical epithelium

** BM invasion = carcinoma

42
Q

A ‘wheal and flare’ reaction is indicative of what type of hypersensitivity rxn?

A

Type I

43
Q

Lysozyme is produced by what cell type of the immune system?

A

Neutrophil.

Lysozyme = antimicrobial enzyme found in specific granules of neutrophils and bodily secretions (tears, mucus). Functions by hydrolyzing bonds within the peptidoglycan cell walls of bacterial organisms.

44
Q

‘Scarlet fever’ is caused by what pathogen?

A

Group A strep

45
Q

What is the recommended treatment for scarlet fever?

A

Scarlet fever = Group A strep

Rx = Penicillin V

46
Q

If a Pt presents with fever, sand-paper like rash, circumoral pallor (cheeks appear flush), and a strawberry tongue, then what condition should be on the differential?

A

Scarlet fever (cause by Group A Strep)

47
Q

What pathogen is responsible for the following disease progression: Acute = neurological complications (encephalitis), Recovery = ADEM - acute disseminated encephalomyelitis, Years later = SSPE

A

Measles virus

48
Q

What is the name for a type of growth that presents as yellow papules that abruptly appear when plasma triglycerides and lipids increase?

A

Eruptive xanthomas

49
Q

What type of painless soft tissue growth can be found on the Achilles tendon and extensor tendons of the fingers?

A

Tuberous and tendinous xanthomas

50
Q

What type of growth presents as linear lesions in skin folds that are strongly assoc with primary biliary cirrhosis?

A

Plane xanthomas

51
Q

What type of growth presents as soft eyelid or periorbital plaques with no assoc lipid abnormality?

A

Xanthelasma

52
Q

Adenosine deaminase (ADA) converts adenosine to ___ as part of purine metabolism.

A

Inosine

53
Q

___ is a cytotoxic purine analog resistant to degradation by ADA that is used to treat hairy cell leukemia.

A

Cladribine

54
Q

Methotrexate would prevent synthesis of what DNA base? How does it achieve this?

A

Thymidine (and purines to a lesser extent).

MOA: Thymidylate converts dUMP to dTMP and requires THF as a cofactor. Dihydrofolate reductase is responsible for reducing DHF to THF and this enzyme is inhibited by methotrexate.

55
Q

What bone is the tensor tympani connected to in the middle ear?

A

the malleus

Tensor tympani arises from the cartilaginous part of the auditory tube and adjoining sphenoid bone and inserts into the malleus.

56
Q

What’s the function of the tensor tympani in the middle ear?

A

Functions to contract the tympanic membrane medially, thereby increasing its tension and dampening sound transmission.

57
Q

What’s the innervation of the tensor tympani?

A

mandibular branch of trigeminal nerve V3

58
Q

What’s the function of the stapedius muscle in the middle ear?

A

To stabilize the stapes. Paralysis of the stapedius&raquo_space; hyperacusis because the stapes is allowed to oscillate more widely.

59
Q

What’s the innervation of the stapedius muscle?

A

stapedius nerve - branch of CN VII

60
Q

What is a Rx for treating temporal (giant cell) arteritis?

A

Corticosteroids or IL-6 Ab (tocilizumab)

61
Q

Azurophilic needle shaped cytoplasmic granules are known as ___ and are indicative of what disease?

A

Auer rods; APL (acute promyelocytic leukemia)

62
Q

What genetic mutation is assoc with APL (acute promyelocytic leukemia)?

A

t(15;17)

Causes fusion of the RARa gene to the PML gene

63
Q

The translocation t(14;18) would be indicative of what type of cancer?

A

non Hodgkin follicular small cleaved cell lymphoma

Puts Bcl2 from 18 near heavy chain locus (from 14)

64
Q

Essential fructosuria is a benign condition due to what mutation?

A

Fructokinase.

Enzyme is normally responsible for converting fructose to fructose 1P

Mix (19 decks)

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