Cooper Shared "gi" - 15 Picmonics
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gi
Nonalcoholic Fatty Liver Disease
- Characteristics
- Fat Infiltration of Hepatocytes in Absence of Alcohol Consumption
- Obesity
- Hyperlipidemia
- Type II Diabetes
- Diagnosis
- Often Found Incidentally
- Elevated Liver Enzymes
- Ultrasound
- Treatment
- Weight Loss
- Abstinence From Alcohol
3 mins
Classic Galactosemia
- Pathophysiology
- Autosomal Recessive
- Galactose-1-phosphate uridyltransferase is Absent (GALT)
- Impaired Galactose-1-P to UDP-Galactose
- Galactitol Accumulation in Lens
- Signs and Symptoms
- Infantile Cataracts
- Failure to Thrive
- Hepatomegaly
- Jaundice
- Intellectual Disability
- Increased Risk E. Coli Sepsis
2 mins
Galactokinase Deficiency
- Autosomal Recessive
- Galactose to Galactose 1P
- Galactose Appears in Blood and Urine
- Benign
- Infantile Cataracts
- Failure to Develop a Social Smile
2 mins
Refsum Disease
- Pathophysiology
- Autosomal Recessive
- Peroxisome Dysfunction
- Increased Phytanic Acid
- Clinical Features
- Retinitis Pigmentosa
- Hearing Loss
- Polyneuropathy
- Anosmia
- Ataxia
- Diagnosis
- Genetic Testing
- Management
- Dietary Changes
- Plasmapheresis
3 mins
Acute Intermittent Porphyria (AIP)
- Pathophysiology
- Autosomal Dominant
- Inhibited Porphobilinogen Deaminase
- Increased Serum Porphobilinogen
- Increased Serum Delta-ALA
- Increased Urinary Porphyrin Precursors
- Signs & Symptoms
- Precipitated By P450 Inducers
- Painful Abdomen
- Polyneuropathy
- Psychological Disturbances
- Port Wine-Colored Urine
- Treatment
- Glucose and Hemin
- Considerations
- Avoid Triggers
3 mins
Porphyria Cutanea Tarda (PCT)
- Pathophysiology
- Inhibited Uroporphyrinogen Decarboxylase (UROD)
- Most Common Porphyria
- 20% Autosomal Dominant
- 80% Sporadic Type
- Hepatitis C Association
- Signs & Symptoms
- Photosensitivity
- Blistering of Skin
- Tea Colored Urine
- Diagnosis
- Increased Uroporphyrins (Urinary & Serum)
- Treatment
- Avoid Sunlight
- Phlebotomy
- Hydroxychloroquine (Low Dose)
3 mins
Colorectal Cancer Interventions
- Interventions
- Surgical Colon Resection
- Radiation
- Chemotherapy
- Considerations
- Bowel Cleansing
- Screening
- Colostomy
- Dietary Consult
- Body Image
3 mins
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
- Characteristics
- Autosomal Dominant
- Defective DNA Mismatch Repair
- 80% Risk of Colon Cancer Development
- Proximal (Right) Colon
- Type II associated with Endometrial, Ovarian and Skin Cancers
- 3-2-1 Rule
- 3 Relatives with Colon Cancer
- Occurs Across 2 Generations
- 1 Relative Diagnosed < 50 Years Old
- Treatment
- Frequent Screening
- Colectomy
3 mins
Peutz-Jeghers Syndrome
- Mechanism and Characteristics
- Symptomatic Age: 10-30 Years
- LKB1/STK11 Gene Mutation
- Autosomal Dominant
- Signs and Symptoms
- Benign GI Hamartomatous Polyps
- Mucocutaneous Hyperpigmentation
- Positive Family History
- Increased Risk of Colorectal Carcinoma
1 min
Turcot Syndrome
- Pathophysiology
- Autosomal Dominant or Autosomal Recessive
- Colonic Polyposis + CNS Tumor
- Associations
- Increased Risk of Colorectal Cancer
- Increased Risk of Brain Cancer
- Lynch Syndrome
- Glioblastoma Multiforme
- Familial Adenomatous Polyposis (FAP)
- Medulloblastoma
2 mins
Gardner Syndrome
- Pathophysiology
- Familial Adenomatous Polyposis (FAP) + Extraintestinal Benign Tumors
- Autosomal Dominant
- APC Gene Mutation
- Clinical Findings
- Desmoid Tumors
- Nasal Angiofibromas
- Osteomas
- Congenital Hypertrophy of Retinal Pigment Epithelium
- Dental Abnormalities
- Cutaneous Lesions
- Adrenal Adenomas
- Associations
- Thyroid Cancer
- Duodenal / Periampullary Cancer
- Pancreatic Cancer
- Hepatoblastoma
2 mins
Familial Adenomatous Polyposis
- Pathophysiology
- Autosomal Dominant
- Mutation in Chromosome 5
- APC Gene Mutation
- Overexpression of Beta-catenin
- Two-Hit Hypothesis
- Clinical Findings
- Change in Bowel Habits
- Colonic Polyps
- Screening
- Colonoscopy
- Management
- Prophylactic Surgery
- Considerations
- Progresses to Colorectal Carcinoma
3 mins
Juvenile Polyposis Syndrome
- Characteristics
- Autosomal Dominant
- Children < 5 Years Old
- Clinical Findings
- Hamartomatous Polyps in Gastrointestinal Tract
- GI Distress
- Anemia
- Considerations
- Increased Risk of Colorectal Carcinoma
2 mins
Neoplastic Colonic Polyps
- Characteristic
- Malignant
- Types
- Adenomatous Polyps
- APC and KRAS Mutation
- Villous Type is more Malignant
- Serrated Polyps
- BRAF Mutation
- Saw-Tooth Pattern
2 mins
Carcinoid Syndrome
- Pathophysiology
- Neuroendocrine Cells
- Serotonin
- Appendix
- Diagnosis
- Chromogranin A
- Neuron Specific Enolase
- Dense Core Bodies on EM
- Signs and Symptoms
- Symptoms When Metastasize to Liver
- Flushing
- Wheezing
- Right Heart Murmur
- Diarrhea
4 mins
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