Biochem/Rx/Optho Flashcards

(61 cards)

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
Tx approaches for Glaucoma (3) ; how specifically does B-blockers work?
B-Blockers --\> ⬇︎ Ciliary **Epithelium** Aqueous humor secretion! *Topical Prostaglandins = latanoprost (open angle glaucoma)*
26
What target organ does the M3 Receptor work in (6)
"[M1s need Brain], [M2s need Heart], [M3s BEGs for Private Lounges" "An M3 **BEGS** for **P**rivate **L**ounges" **B**ladder(contraction) / **E**yes / **G**I / **S**kin / [**P**eripheral Vasculature] / **L**ungs
27
Identify Dz and its etx
[CLOSED angle Glaucoma]; ⬆︎ intraocular pressure from ⬇︎ aqueous humor drainage ## Footnote *Causes: Anticholinergics / Sympathomimetics / Dim light*
28
CP of Acute Closed Angle Gluacoma-5 ; Prognosis if untreated?
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
What are the 2 options for reversing Warfarin
1. [IV VitK **+ PCC (ProThrombin Complex Concentrate)**] 2. FFP (Fresh Frozen Plasma) ## Footnote *Give IV VitK WITH PCC since IV VitK has 12-24 hr onset*
30
Tranexamic Acid MOA ; Indication-2
Prevents Fibrin Lysis ; Menorrhagia and Hemorrhage px
31
What is the major complaint pts with Glaucoma have?
**Gradual Tunnel Vision**
32
Gabapentin MOA
a2-delta Ca+ channel ligand ## Footnote *Structurally similar to GABA*
33
Acetazolamide contraindications - 2
1. Pregnancy 2. Sulfa Allergy ## Footnote *SE = NV*
34
Clinical Manifestation of DRESS Syndrome (6)
**D**ysfunctional Internal organs **R**eally Hot (Fever) **E**osinophilia w/LAD **S**kin Rash **S**wollen Face
35
Vomiting is a reflex regulated by which receptors? (5)
**5** **D**ays of **H**aving **N**auseating **M**oomoo :-( 1. **5**HT3 (ondansentron tx) \*\*\*\* 2. **D**2 3. **H**1 Histamine 4. [**N**K1 Neurokinin 1] \*\*\* 5. **M**1 muscarinic
36
Low tone hearing loss is associated with \_\_\_\_\_ while High tone hearing loss is associated with \_\_\_\_\_
Low tone loss = Conductive High Tone loss = Sensorineural
37
Which is more efficient at transmitting sound between Bone and Air? Why?
**AIR!** ; Air interacts with ossicles FIRST, which **A**mplifies the sound conduction to cochlea
38
Major SE of Atorvastatin - 3
1. Myalgia 2. Rhabdomyolysis--\>Myoclobinuria--\>Acute Kidney Injury 3. Liver Dysfunction
39
Major SE of Metoprolol - 3
1. Bradycardia 2. hypotension 3. heart block
40
Major SE of HCTZ - 5
1. Dehydration 2. hyponatremia 3. hypokalemia 4. renal dysfunction 5. gout attack 2/2 ⬆︎serum uric acid
41
Major SE of [Lisinopril ACE inhibitors] - 4
1. Angioedema 2. Cough 3. HyperKalemia 4. Renal dysfunction
42
Which Anti-HTN drugs can cause infertility secondary to hyperprolactinemia? - 3
1. Verapamil 2. Methyldopa 3. Reserpine
43
What Best effect to least effect, list the management options for controlling BP - 5
**W**e **D**on't **E**xercise **A**t **A**ll! ## Footnote **W**eight **D**ASH diet **E**xercise s**A**lt **A**lcohol
44
Macular degeneration affects ___ (central/peripheral) vision, while Open Angle Glaucoma affects _____ (central/peripheral) vision
Ma**C**ular --\> **C**ENTRAL 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
Ophthalmoscopy findings include cupping of the optic disc Dx?
Open Angle Glaucoma ## Footnote *Glaucoma affects peripheral vision --\> tunnel vision! OAG is more common in Blacks*
46
etx of Cataracts ; What is the most common presenting sx of Cataracts?
⬆︎**opacity** of lens --\> 1. gradual Bilateral NIGHT VISION problems 2. halos around lights Fundoscopy eventually shows lost of red reflex and retinal details
47
How can you differentiate conjunctivitis from Adenovirus and conjunctivitis from IgE mediated allergy response? - 2
1. Adenovirus does NOT cause pruritus. Allergies does 2. Adenovirus is preceded by viral prodrome
48
Dacryocystitis etx ; which organisms cause this?-2
infection of lacrimal sac in medial canthal region 1. Staph A 2. GASP
49
What is the treatment for Emergent Acute Closed angle Glaucoma - 4
1. Timolol 2. Pilocarpine 3. Acetazolamide 4. Mannitol
50
Dx?
Retinoblastoma leukocoria
51
cp for Acute Closed angle Glaucoma - 3 ; Dx?-2
1. Red Painful eye 2. Fixed Dilated pupil 3. Cloudy Cornea Dx = **Gonioscopy**, Ocular Tonometry
52
cp for Uveitis - 3
1. Blurred painful vision 2. conjunctival injection 3. miosis
53
Identify finding ; What disease does this pt have?
Dendriform Corneal Ulcer ; Zoster Ophthalmicus
54
Tx for Central Retinal Artery occlusion - 2 ## Footnote *Painless loss of monocular vision*
1. HiFlo O2 2. Ocular massage
55
What type of immunity do polysaccharide vaccines (like the pneumococcal vaccine) produce?
B cell response that is **independent of T cells**
56
MOD for Trachoma ; cp for Trachoma-2
Repeated infections with Chlamydia Trachomatis A,B,C --\> **Inversion of Eyelashes** = Trachoma (**PALE FOLLICLES** with Conjunctival injection) --\> Blindness from lash ulceration
57
Subconjunctival Hemorrhage is self limited to how long?
2 days
58
How does this abnormality clinically present? - 2
Virtreous Hemorrhage Sudden uL Vision Loss + Floaters *Fundoscopy = Dark Red Glow with Loss of Fundus details*
59
When can you hospitalize a mentally competent pt against their will?
when their ailment **poses a serious threat to public health**
60
When can you mandate parents against their will to accept treatment for a non emergent ailment in their child?
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
Describe ophthalmoscopy findings for Diabetic Retinopathy-3
1. microaneurysms = simple type 2. retinal edema = simple type 3. newly formed vessels if malignant type