Janahan Shared "BioChem Day 6 - AD Diseases" - 12 Picmonics
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BioChem Day 6 - AD Diseases
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Neurofibromatosis Type 2
- Pathophysiology
- Autosomal-Dominant
- Chromosome 22
- Signs and Symptoms
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
2 mins
Von Hippel-Lindau Disease
- Pathophysiology
- Chromosome 3
- Presentation
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
2 mins
Hypercholesterolemia Disease
- Risk Factors
- Diabetes
- Smoking
- Family History
- Hypertension
- HDL < 40
- Men Older than 45 Years of Age
- Women Older than 55 Years of Age
- Signs and Symptoms
- Atheromas
- Plaques in Blood Vessel Walls
- Tissue Ischemia
- Xanthomas
- Lipemia Retinalis
2 mins
Hypercholesterolemia Treatment
- Lifestyle Modifications (Diet, Exercise, Smoking Cessation)
- Statins
- Niacin
- Ezetimibe
- Fibrates
- Bile Acid Resins
- PCSK9 Inhibitors
- Omega 3 Fatty Acids
- Screening
- Pooled Cohort Test
2 mins
Hereditary Spherocytosis Disease
- Northern Europeans
- Mechanisms
- Autosomal Dominant
- Spectrin/Ankyrin Deficiency
- Spherocyte Formation
- Hemolytic Anemia
- Symptoms
- Bilirubin Gallstones
- Jaundice
- Splenomegaly
3 mins
Hereditary Spherocytosis Diagnosis & Treatment
- Labs
- Increased MCHC
- Spherocytes
- Normocytic Anemia
- Diagnosis
- Eosin-5-Maleimide (EMA) Binding Test
- Osmotic Fragility Test
- Glycerol Lysis Test
- Treatment
- Folic Acid
- Splenectomy
2 mins
Huntington's Disease
- Pathophysiology
- Autosomal Dominant
- Trinucleotide Repeat
- CAG Repeats
- Chromosome 4
- Anticipation
- Caudate
- Decrease of ACh
- Decrease of GABA
- Signs and Symptoms
- Chorea
- Dementia
- Depression
- Glutamate Toxicity
- Neuronal Death via NMDA Binding
3 mins
MEN 1 (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- Menin Mutation (Tumor Suppression Gene)
- Chromosome 11
- Signs and Symptoms
- Pancreatic Endocrine Tumors
- Pituitary Tumors
- Parathyroid Adenomas
2 mins
MEN 2A (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- RET Gene
- Signs and Symptoms
- Medullary Thyroid carcinoma
- Calcitonin
- Parathyroid
- Pheochromocytoma
45 secs
MEN 2B (Multiple Endocrine Neoplasia)
- Pathophysiology
- RET Gene
- Autosomal Dominant
- Signs and Symptoms
- Medullary Thyroid Carcinoma
- Pheochromocytoma
- Mucosal Neuromas
- Marfanoid Body Habitus
2 mins
Tuberous Sclerosis
- Characteristics
- Autosomal Dominant
- Signs and Symptoms
- Hamartomas in CNS and Skin
- Phakoma
- Subependymal Giant Cell Astrocytoma
- Seizures
- Intellectual Disability (Mental Retardation)
- Adenoma Sebaceum
- Shagreen Patch
- Ash-leaf Spots
- Renal Angiomyolipoma
- Cardiac Rhabdomyoma
2 mins
