Biochem/Rx/Optho Flashcards
What is Von Gierkes’ Disease
[Type 1 Glycogen Storage - Glucose6Phosphatase deficiency] in Liver/Kidney/Intestine
Von Gierkes’ Disease CP - 4
- Seizures 2/2 hypOglycemia
- Lactic Acidosis
- Doll-Like Fat cheeks
- Protuberant Abd (Hepatomegaly)
[McArdle Glycogen Storage Dz 5] etx
Myophosphorylase Deficiency–> DEC Muscle Glycogenolysis
[McArdle GSD5 Muscle Phosphorylase deficiency] CP
Myoglobinuria with Exercise
[Cori GSD3 Debranching deficiency] CP (3)
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GSD = Glycogen Storage Disease
- SHORT STATURE
- hypOglycemia
- Muscle weakness & hypOtonia
[Cori GSD3 Debranching deficiency] etx
Debranching enzyme deficiency –> accumulation of glycogen with abnormal short outer chains (inability to degrade at alpha1-6 branch points)
What is Pompe Disease
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CP-2
[Type 2 Glycogen Storage - Acid Maltase deficiency] –>
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Floppy baby & HF
What is AmyLoPectinosis?
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CP?
[Type 4 GSD Glycogen Branching deficiency]
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Progressive Cirrhosis
How do pts with Liver phosphorylase deficiency present - 2
Hepatomegaly and growth retardation early in childhood
Slit Lamp Exam indication
Evalutes for abnormalities of ANT eye (conjunctiva, cornea, ANT chamber, iris)
[Niemann Pick] MOD
Sphingomyelinase Deficiency –> accumulation of Sphingomyelin
[Niemann Pick] Clinical Presentation (3)
- Cherry Red Macular Spot
- Neuro Regression
- Hepatosplenomegaly (differentiates from Tay-Sachs)
Tay-Sachs Clinical Presentation (2)
- Cherry Red Macular Spot
- Neuro Regression
Tay-Sachs MOD
[B-Hexosaminidase A Deficiency] –> GM2 accumulation in neurons
Hurler Syndrome etx
lysosomal Hydrolase deficiency
Hurler Syndrome CP-5
- Coarse face
- Corneal Clouding
- Claw Hand
- HepatoSplenomegaly
- Hernias (umbilical vs inguinal)
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lysosomal Hydrolase deficiency
Gaucher Dz etx
auto recessive Glucocerebrosidase deficiency –> accumulates in macrophages –> crumbled newspaper appearance
Gaucher Dz CP-3
- anemia
- thrombocytopenia
- Hepatosplenomegaly
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auto recessive Glucocerebrosidase deficiency –> accumulates in macrophages –> crumbled newspaper appearance
Krabbe Disease etx
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CP-3
[auto recessive GalactoCerebrosidase deficiency]
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- Retard
- hypOreflexia
- hypOtonia
CP for Retinal Detachment - 3
- Floaters
- Visual Curtain descending from periphery
- Photopsia Flashes of Light
Identify
Central Retinal VEIN Thrombosis
- Blood & Thunder appearance 2/2 scattered hemorrhage
- Cotton Wool Spots
- Disk Swelling
diagnosis?
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What’s the most common cause?
Vitreous Hemorrhage
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DM
Fundoscopy = Dark Red Glow with Loss of Fundus details
Causes of Corneal Abrasion - 3
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How do you diagnose Corneal Abrasion?
- Trauma
- Foreign Body under eyelid
- Contact lens –> Corneal epithelial defect
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Fluorescein exam revealing corneal staining defect
Pralidoxime MOA
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Indication
ReActivates AChenesterase
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Organophosphate poisoning (along with giving Atropine)
How do Benzodiazepines affect Blood Pressure
⬇︎ BP
Glaucoma etx
⬆︎ intraocular pressure from [⬆︎ production vs. ⬇︎ outflow of Aqueous humor]
Topical Prostaglandins = latanoprost (open angle glaucoma)