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Medicine (MD/DO)
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First Aid
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First Aid for the USMLE Step 1 (2022)
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First Aid for the USMLE Step 1 (2022) | Medicine (MD/DO) School Study Aid

Page 396 -
7 Picmonics to Learn | 14 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
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2 mins
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
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2 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
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1 min
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
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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
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2 mins
Non-neoplastic Colonic Polyps
Characteristic
Benign
Types
Hyperplastic Polyps
Rectosigmoid
Hamartomatous Polyps
Peutz-Jeghers Syndrome
Juvenile Polyposis Syndrome
Inflammatory Pseudopolyps
Inflammatory Bowel Disease
Mucosal Polyps
Submucosal Polyps
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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
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2 mins

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