Esmeralda Shared "cancer and peds fom 6" - 24 Picmonics
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cancer and peds fom 6
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
Von Hippel-Lindau Disease
- Pathophysiology
- Chromosome 3
- Presentation
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
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
Li-Fraumeni Syndrome
- Pathophysiology
- Autosomal Dominant
- TP53 Mutation
- Loss of Heterozygosity
- Clinical Features
- Osteosarcoma
- Breast Cancer
- Brain Tumors
- Leukemia/Lymphoma
- Adrenocortical Carcinoma
- Management
- Supportive Care
3 mins
Chronic Myelogenous Leukemia (CML)
- Pathophysiology
- BCR-ABL
- 9;22 Translocation
- Philadelphia Chromosome
- Signs & Symptoms
- Tyrosine Kinase
- Low Alkaline Phosphatase
- Splenomegaly
- Considerations
- Blast Crisis
- Age 30 to 90 Years
- Responds to Imatinib
3 mins
Primary Immune Thrombocytopenia
- Characteristics
- Following Infection or Vaccination
- Antiplatelet Antibodies
- Clinical Features
- Often Asymptomatic
- Bleeding
- Petechiae
- Diagnosis
- Thrombocytopenia
- Increased Megakaryocytes
- Management
- Corticosteroids
- Intravenous Immunoglobulin (IVIG)
- Rituximab
- Splenectomy
4 mins
Ataxia Telangiectasia
- Pathophysiology
- Autosomal Recessive
- ATM Gene
- Defect in DNA repair
- Signs & Symptoms
- Cerebellar defects
- Spider Angiomas
- Sensitive to Radiation
- Defective Tumor Suppressor Gene
- Increased risk of Cancer, Leukemias, and Lymphomas
- Increased AFP levels
- IgA deficiency
- Repeated sinopulmonary infections
2 mins
Pyruvate Kinase Deficiency
- Pathophysiology
- Autosomal Recessive
- Defect in Pyruvate Kinase
- Decreased ATP
- Extravascular Hemolysis
- Presentation / Symptoms
- Hemolytic Anemia in a Newborn
- Diagnosis
- RBC Enzyme Assay
- Echinocytes
- Burr Cells
- Small Uniform Projections
- Normocytic Anemia
2 mins
G6PD Deficiency
- X-linked Recessive
- Hemolytic Anemia
- Inflammatory Response
- Fava Beans
- Sulfonamides
- Primaquine
- Anti TB Drugs
- Heinz Bodies
- Bite Cells
- Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
Hereditary Spherocytosis Disease
- Northern Europeans
- Mechanisms
- Autosomal Dominant
- Spectrin/Ankyrin Deficiency
- Spherocyte Formation
- Hemolytic Anemia
- Symptoms
- Bilirubin Gallstones
- Jaundice
- Splenomegaly
3 mins
Fanconi Anemia
- Characteristics
- Autosomal Recessive
- Aplastic Anemia
- DNA Crosslink Repair Defect
- Clinical Presentation
- Short Stature
- Microcephaly
- Thumb and Forearm Malformations
- Cafe Au Lait Spots
- Ocular Abnormalities
- Horseshoe Kidney
- Lab Findings
- Chromosomal Breakage Testing
- Macrocytic Anemia
- Pancytopenia
- Management
- Monitor For Malignancy and Bone Marrow Failure
- Hematopoietic Stem Cell Transplantation
3 mins
Systemic Juvenile Idiopathic Arthritis Characteristics and Presentation
- Characteristics
- Idiopathic
- Still's Disease
- Autoimmune Joint Destruction
- Onset < 16 Years Old
- Presentation
- Arthritis
- Quotidian Fever
- Evanescent Exanthem
- Lymphadenopathy
- Hepatosplenomegaly
2 mins
Systemic Juvenile Idiopathic Arthritis Diagnosis and Management
- Laboratory Findings
- Increased Ferritin
- Management
- Glucocorticoids
- Tocilizumab
- Anakinra
- Complications
- Joint Deformities
- Limb-Length Discrepancy
- Uveitis
- Macrophage Activation Syndrome
- Considerations
- Variable Prognosis
2 mins
Polymyositis / Dermatomyositis Diagnosis and Treatment
- Diagnosis
- Increased CK (CPK)
- Increased Aldolase
- Anti-JO-1 Antibody
- Anti-SRP Antibody
- Antinuclear Antibody
- Abnormal EMG
- Biopsy
- Treatment
- Corticosteroids
- Methotrexate
- Azathioprine
- Treatment For Resistant Disease
- Intravenous Immunoglobulin (IVIG)
- Cyclophosphamide
- Rituximab
- Calcineurin Inhibitors
2 mins
Polymyositis / Dermatomyositis Disease
- Pathophysiology
- Idiopathic Inflammatory Myopathy
- More Common in Women
- Endomysial Inflammation with CD8+ Cells (Polymyositis)
- Perimysial Inflammation with CD4+ Cells (Dermatomyositis)
- Signs and Symptoms (Both)
- Symmetric Proximal Muscle Weakness
- Dysphagia
- Lung and Cardiac Involvement
- Signs and Symptoms (Dermatomyositis)
- Malar Rash
- Shawl-like Shoulder Rash
- Gottron Papules on Knuckles
- Heliotrope Rash
3 mins
Anticentromere Antibodies
- Autoimmune Disorders
- CREST Syndrome (Limited Scleroderma)
- Diffuse Scleroderma
49 secs
Sjögren’s Syndrome
- Mechanism
- Autoimmune Exocrine Gland Destruction
- Symptoms (Classic Triad)
- Xerostomia
- Xerophthalmia
- Arthritis
- Diagnosis
- Anti SS-B (La)
- Anti SS-A (Ro)
- Schirmer's Test
- Salivary Gland Biopsy
- Treatment
- Symptomatic Treatment
- Complications
- Lymphoma
- Other
- Sicca Syndrome
4 mins
Ewing's Sarcoma
- Epidemiology
- Most Common in Boys < 15 years old
- Pathophysiology
- 11;22 Translocation
- Characteristics
- Long bones, Pelvis, Ribs
- Diaphysis
- Small Blue Cells
- Malignant
- Aggressive
- Onion-skin Appearance
- TREATMENT
- Responsive to Chemotherapy
2 mins
Osteosarcoma
- Pathophysiology
- Osteogenic Sarcoma
- Peak incidence men 10-20 years old
- Metaphysis of Long Bones
- Knee Region
- Radiation
- Familial Retinoblastoma
- Paget's Disease
- Diagnosis
- Codman Triangle
- Sunburst Pattern from Elevated Periosteum
- Grave Prognosis
2 mins
Neuroblastoma Characteristics and Presentation
- Characteristics
- Malignant Neuroendocrine Tumor
- Neural Crest Cells Origin
- Sympathetic Ganglia
- Adrenal Glands
- Amplification of N-myc Oncogene
- Most Common Cancer In Infancy
- Clinical Presentation
- Abdominal Mass That Can Cross Midline
- Gastrointestinal Distress
- Metastasis
- Raccoon Eyes
- Opsoclonus-Myoclonus Syndrome
4 mins
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