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Arsheen Shared "MFM Exam 3" - 19 Picmonics

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MFM Exam 3

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
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2 mins
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
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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
Chediak-Higashi Syndrome
Pathophysiology
Autosomal Recessive
Defective Lysosomal Trafficking Regulator Gene (LYST)
Defect In Microtubular Function
Decrease In Phagocytosis
Signs And Symptoms
Recurrent Pyogenic Infections
Staph Aureus And Streptococci
Partial Albinism
Peripheral Neuropathy
Pancytopenia
Diagnosis
Giant Granules In Granulocytes And Platelets
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2 mins
Chronic Granulomatous Disease
Pathophysiology
Most Commonly X-linked Recessive
Defective NADPH Oxidase (Enzyme Complex)
Decreased Hydrogen Peroxide
Impaired Intracellular Killing in Phagocytes
Signs and Symptoms
Recurrent Purulent Skin and Lung Infections
Catalase Positive Organisms
Diagnosis
Negative Nitroblue Tetrazolium Test
DHR (Dihydrorhodamine) Flow Cytometry
Treatment
Antimicrobial Prophylaxis
TMP-SMX
Itraconazole
Interferon-Gamma
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3 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
Hyper IgM Syndrome
Pathophysiology
Deficient CD40 Ligand on Helper T-cells
Defective CD40 Receptor on B-cells
Inability to Class Switch
Signs and Symptoms
Pyogenic Abscess
Decreased IgG, IgA, IgE
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4 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
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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
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
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2 mins
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
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4 mins
Parkinson's Disease Assessment
Assessment
Decreased Dopamine
Older Adult
Cogwheel Rigidity
Bradykinesia
Shuffling Gait
Resting Tremor
Pill-Rolling
Mask-Like Face
Cognitive Decline
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2 mins
Pheochromocytoma
Cause/Mechanism
Adrenal Medulla Tumor
Increased Catecholamines
Assessment
Episodic Hypertension
Diaphoresis
Abdominal or Chest Pain
Interventions
Surgery
Antihypertensives
Phenoxybenzamine
Metyrosine (Demser)
Considerations
Do Not Palpate Abdomen
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3 mins
Retinoblastoma
Characteristics
Loss of Heterozygosity
Chromosome 13
Children
Presentation
Leukocoria
Strabismus
Vision Loss
Association
Osteosarcoma
Diagnosis
Genetic Testing
Management
Cryotherapy
Photocoagulation
Chemotherapy or Radiation
Surgery
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3 mins
Selective IgA Deficiency
Pathophysiology
Defect in Class Switching
Decreased IgA
Signs and Symptoms
Often Asymptomatic
Increase in Atopic & Autoimmune Diseases
Sinopulmonary Infections
Increased Risk Giardia Lamblia Infections
Inflammatory Bowel Disease
Celiac Disease
Considerations
Anaphylaxis From IgA Containing Blood Products
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2 mins
Severe Combined Immunodeficiency (SCID)
Both B and T Cell Deficiency
Recurrent Viral, Bacterial, Fungal, Protozoal Infections
Defective Interleukin (IL) 2 Receptor
X-Linked
Adenosine Deaminase Deficiency
Failure to Synthesize MHC II Antigens
Treat with Bone Marrow Transplant
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2 mins
Thymic Aplasia (DiGeorge Syndrome)
Pathophysiology
DiGeorge Syndrome
22q11 Deletion
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
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2 mins
Von Hippel-Lindau Disease
Pathophysiology
Chromosome 3
Presentation
Hemangioblastomas
Medulla, Retina, Cerebellum
Cysts
Kidney, Liver, Pancreas
Develop Bilateral Renal Carcinomas
Pheochromocytomas
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2 mins
Wiskott Aldrich
Pathophysiology
X-linked Recessive
WASp Protein Mutation
Antigen Presentation Defect
Progressive Deletion of B and T Cells
Signs and Symptoms
Thrombocytopenia
Eczema
Infections
Decreased IgM
Increased IgE, IgA
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2 mins

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Arsheen Shared MFM Exam 3 - 19 Picmonics