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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
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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
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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
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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
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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
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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)
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3 mins
Colorectal Cancer Interventions
Interventions
Surgical Colon Resection
Radiation
Chemotherapy
Considerations
Bowel Cleansing
Screening
Colostomy
Dietary Consult
Body Image
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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
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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
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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
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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
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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
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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
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
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
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4 mins

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Cooper Shared gi - 15 Picmonics