Biochem/Rx/Optho Flashcards

1
Q

What is Von Gierkes’ Disease

A

[Type 1 Glycogen Storage - Glucose6Phosphatase deficiency] in Liver/Kidney/Intestine

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2
Q

Von Gierkes’ Disease CP - 4

A
  1. Seizures 2/2 hypOglycemia
  2. Lactic Acidosis
  3. Doll-Like Fat cheeks
  4. Protuberant Abd (Hepatomegaly)
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3
Q

[McArdle Glycogen Storage Dz 5] etx

A

Myophosphorylase Deficiency–> DEC Muscle Glycogenolysis

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4
Q

[McArdle Glycogen Storage Dz 5] CP

A

Myoglobinuria with Exercise

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5
Q

[Cori Debranching Glycogen Storage Dz 3] CP (3)

A
  1. Short stature
  2. hypOglycemia
  3. Muscle weakness & hypOtonia
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6
Q

[Cori Debranching Glycogen Storage Dz 3] etx

A

Debranching enzyme deficiency –> accumulation of glycogen with abnormal short outer chains (inability to degrade at alpha1-6 branch points)

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7
Q

What is Pompe Disease ; CP-2

A

[Type 2 Glycogen Storage - Acid Maltase deficiency] –> Floppy baby & HF

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8
Q

What is Amylopectinosis? CP?

A

[Type 4 GSD Glycogen Branching deficiency] ; Progressive Cirrhosis

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9
Q

How do pts with Liver phosphorylase deficiency present - 2

A

Hepatomegaly and growth retardation early in childhood

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10
Q

Slit Lamp Exam indication

A

Evalutes for abnormalities of ANT eye (conjunctiva, cornea, ANT chamber, iris)

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11
Q

[Niemann Pick] MOD

A

Sphingomyelinase Deficiency –> accumulation of Sphingomyelin

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12
Q

[Niemann Pick] Clinical Presentation (3)

A
  1. Cherry Red Macular Spot
  2. Neuro Regression
  3. Hepatosplenomegaly (differentiates from Tay-Sachs)
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13
Q

Tay-Sachs Clinical Presentation (2)

A
  1. Cherry Red Macular Spot
  2. Neuro Regression
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14
Q

Tay-Sachs MOD

A

[B-Hexosaminidase A Deficiency] –> GM2 accumulation in neurons

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15
Q

Hurler Syndrome etx ; CP-5

A

lysosomal Hydrolase deficiency

  1. Coarse face
  2. Corneal Clouding
  3. Claw Hand
  4. HepatoSplenomegaly
  5. Hernias (umbilical vs inguinal)
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16
Q

Gaucher Dz etx ; CP-3

A

auto recessive Glucocerebrosidase deficiency –> accumulates in macrophages –> crumbled newspaper looks ;

  1. anemia
  2. thrombocytopenia
  3. Hepatosplenomegaly
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17
Q

Krabbe Disease etx; CP-3

A

auto recessive GalactoCerebrosidase deficiency;

  1. Retard
  2. hypOreflexia
  3. hypOtonia
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18
Q

CP for Retinal Detachment - 3

A
  1. Floaters
  2. Visual Curtain descending from periphery
  3. Photopsia Flashes of Light
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19
Q

Identify Disease Process

A

Central Retinal VEIN Thrombosis

  • Blood & Thunder appearance 2/2 scattered hemorrhage
  • Cotton Wool Spots
  • Disk Swelling
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20
Q

Identify Disease Process ; What’s most common cause

A

Virtreous Hemorrhage ; DM

Fundoscopy = Dark Red Glow with Loss of Fundus details

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21
Q

Causes of Corneal Abrasion - 3; Dx?

A
  1. Trauma
  2. Foreign Body under eyelid
  3. Contact lens –> Corneal epithelial defect

Fluorescein exam revealing corneal staining defect

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22
Q

Pralidoxime MOA ; Indication

A

ReActivates AChenesterase ; Organophosphate poisoning (along with giving Atropine)

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23
Q

How do Benzodiazepines affect Blood Pressure

A

⬇︎ BP

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24
Q

Glaucoma etx

A

⬆︎ intraocular pressure from [⬆︎ production vs. ⬇︎ outflow of Aqueous humor]

Topical Prostaglandins = latanoprost (open angle glaucoma)

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25
Q

Tx approaches for Glaucoma (3) ; how specifically does B-blockers work?

A

B-Blockers –> ⬇︎ Ciliary Epithelium Aqueous humor secretion!

Topical Prostaglandins = latanoprost (open angle glaucoma)

26
Q

What target organ does the M3 Receptor work in (6)

A

“[M1s need Brain], [M2s need Heart], [M3s BEGs for Private Lounges”

“An M3 BEGS for Private Lounges”

Bladder(contraction) / Eyes / GI / Skin / [Peripheral Vasculature] / Lungs

27
Q

Identify Dz and its etx

A

[CLOSED angle Glaucoma]; ⬆︎ intraocular pressure from ⬇︎ aqueous humor drainage

Causes: Anticholinergics / Sympathomimetics / Dim light

28
Q

CP of Acute Closed Angle Gluacoma-5 ; Prognosis if untreated?

A
  1. uL eye pain
  2. Conjunctival injection
  3. Dilated pupil with poor response
  4. Cloudy Cornea
  5. HA with NV

** Pts have Permanent Vision Loss within 2-5 hrs of onset!**

Causes: Anticholinergics / Sympathomimetics / Dim light

29
Q

What are the 2 options for reversing Warfarin

A
  1. [IV VitK + PCC (ProThrombin Complex Concentrate)]
  2. FFP (Fresh Frozen Plasma)

Give IV VitK WITH PCC since IV VitK has 12-24 hr onset

30
Q

Tranexamic Acid MOA ; Indication-2

A

Prevents Fibrin Lysis ; Menorrhagia and Hemorrhage px

31
Q

What is the major complaint pts with Glaucoma have?

A

Gradual Tunnel Vision

32
Q

Gabapentin MOA

A

a2-delta Ca+ channel ligand

Structurally similar to GABA

33
Q

Acetazolamide contraindications - 2

A
  1. Pregnancy
  2. Sulfa Allergy

SE = NV

34
Q

Clinical Manifestation of DRESS Syndrome (6)

A

Dysfunctional Internal organs

Really Hot (Fever)

Eosinophilia w/LAD

Skin Rash

Swollen Face

35
Q

Vomiting is a reflex regulated by which receptors? (5)

A

5 Days of Having Nauseating Moomoo :-(

  1. 5HT3 (ondansentron tx) ****
  2. D2
  3. H1 Histamine
  4. [NK1 Neurokinin 1] ***
  5. M1 muscarinic
36
Q

Low tone hearing loss is associated with _____

while

High tone hearing loss is associated with _____

A

Low tone loss = Conductive

High Tone loss = Sensorineural

37
Q

Which is more efficient at transmitting sound between Bone and Air? Why?

A

AIR! ; Air interacts with ossicles FIRST, which Amplifies the sound conduction to cochlea

38
Q

Major SE of Atorvastatin - 3

A
  1. Myalgia
  2. Rhabdomyolysis–>Myoclobinuria–>Acute Kidney Injury
  3. Liver Dysfunction
39
Q

Major SE of Metoprolol - 3

A
  1. Bradycardia
  2. hypotension
  3. heart block
40
Q

Major SE of HCTZ - 5

A
  1. Dehydration
  2. hyponatremia
  3. hypokalemia
  4. renal dysfunction
  5. gout attack 2/2 ⬆︎serum uric acid
41
Q

Major SE of [Lisinopril ACE inhibitors] - 4

A
  1. Angioedema
  2. Cough
  3. HyperKalemia
  4. Renal dysfunction
42
Q

Which Anti-HTN drugs can cause infertility secondary to hyperprolactinemia? - 3

A
  1. Verapamil
  2. Methyldopa
  3. Reserpine
43
Q

What Best effect to least effect, list the management options for controlling BP - 5

A

We Don’t Exercise At All!

Weight

DASH diet

Exercise

sAlt

Alcohol

44
Q

Macular degeneration affects ___ (central/peripheral) vision, while Open Angle Glaucoma affects _____ (central/peripheral) vision

A

MaCular –> CENTRAL vision loss with straight lines appearing curvy (wet/exudative-neovascular= aggressive and uL while dry/atrophic=gradual and BL)

Open Angle Glaucoma –> peripheral vision loss (tunnel vision)

45
Q

Ophthalmoscopy findings include cupping of the optic disc

Dx?

A

Open Angle Glaucoma

Glaucoma affects peripheral vision –> tunnel vision! OAG is more common in Blacks

46
Q

etx of Cataracts ; What is the most common presenting sx of Cataracts?

A

⬆︎opacity of lens –>

  1. gradual Bilateral NIGHT VISION problems
  2. halos around lights

Fundoscopy eventually shows lost of red reflex and retinal details

47
Q

How can you differentiate conjunctivitis from Adenovirus and conjunctivitis from IgE mediated allergy response? - 2

A
  1. Adenovirus does NOT cause pruritus. Allergies does
  2. Adenovirus is preceded by viral prodrome
48
Q

Dacryocystitis etx ; which organisms cause this?-2

A

infection of lacrimal sac in medial canthal region

  1. Staph A
  2. GASP
49
Q

What is the treatment for Emergent Acute Closed angle Glaucoma - 4

A
  1. Timolol
  2. Pilocarpine
  3. Acetazolamide
  4. Mannitol
50
Q

Dx?

A

Retinoblastoma leukocoria

51
Q

cp for Acute Closed angle Glaucoma - 3 ; Dx?-2

A
  1. Red Painful eye
  2. Fixed Dilated pupil
  3. Cloudy Cornea

Dx = Gonioscopy, Ocular Tonometry

52
Q

cp for Uveitis - 3

A
  1. Blurred painful vision
  2. conjunctival injection
  3. miosis
53
Q

Identify finding ; What disease does this pt have?

A

Dendriform Corneal Ulcer ; Zoster Ophthalmicus

54
Q

Tx for Central Retinal Artery occlusion - 2

Painless loss of monocular vision

A
  1. HiFlo O2
  2. Ocular massage
55
Q

What type of immunity do polysaccharide vaccines (like the pneumococcal vaccine) produce?

A

B cell response that is independent of T cells

56
Q

MOD for Trachoma ; cp for Trachoma-2

A

Repeated infections with Chlamydia Trachomatis A,B,C –> Inversion of Eyelashes = Trachoma (PALE FOLLICLES with Conjunctival injection) –> Blindness from lash ulceration

57
Q

Subconjunctival Hemorrhage is self limited to how long?

A

2 days

58
Q

How does this abnormality clinically present? - 2

A

Virtreous Hemorrhage

Sudden uL Vision Loss + Floaters

Fundoscopy = Dark Red Glow with Loss of Fundus details

59
Q

When can you hospitalize a mentally competent pt against their will?

A

when their ailment poses a serious threat to public health

60
Q

When can you mandate parents against their will to accept treatment for a non emergent ailment in their child?

A

when the non-emergent ailment is a fatal medical condition (i.e. Cancer), M.D. can obtain a court order

PARENTS ARE NOT ALLOWED TO REFUSE LIFE SAVING TREATMENT FOR THEIR CHILD (EVEN IF BASIS ARE RELIGIOUS)

61
Q

Describe ophthalmoscopy findings for Diabetic Retinopathy-3

A
  1. microaneurysms = simple type
  2. retinal edema = simple type
  3. newly formed vessels if malignant type