Martzio Shared "rewatch" - 773 Picmonics

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Gauchers Disease
Pathophysiology
Autosomal Recessive
Beta Glucocerebrosidase Deficiency
Diagnosis
Lipid-laden Macrophages
Crumpled Tissue Paper
Signs and Symptoms
Osteoporosis
Bone Crises
Aseptic Necrosis of Femur
Erlenmeyer Flask Deformity
Hepatosplenomegaly
Pancytopenia
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2 mins
Fabry's Disease
Pathophysiology
X-linked Recessive
Alpha-galactosidase A Deficiency
Increased Ceramide trihexoside
Early Signs and Symptoms
Decreased Sweating (Hypohidrosis)
Angiokeratoma
Episodic Peripheral Neuropathy
Late Signs and Symptoms
Cardiovascular Disease
Renal Failure
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1 min
Niemann-Pick Disease
Pathophysiology
Autosomal Recessive
Sphingomyelinase Deficiency
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Hepatosplenomegaly
Neurodegeneration
Diagnosis
Foam Cells
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1 min
Hurler Syndrome
Pathophysiology
Autosomal Recessive
Mucopolysaccharidoses
Alpha-L-Iduronidase Deficiency
Increased Heparan Sulfate
Increased Dermatan Sulfate
Signs and Symptoms
Hepatosplenomegaly
Developmental Delay
Gargoylism
Corneal Clouding
Airway Obstruction
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2 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
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1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
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1 min
Tacrolimus (Prograf) Overview
Mechanisms
Immunosuppressant
Inhibits Calcineurin, Decreasing IL-2
Indications
Transplant Rejection
Atopic Dermatitis
Considerations
Increased Lymphoma Risk
Avoid Grapefruit Juice
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1 min
Tacrolimus (Prograf) Side Effects
Nephrotoxicity
Neurotoxicity
GI Distress
Infection
Hypertension
Hyperkalemia
Hyperglycemia
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1 min
Cyclosporine (Sandimmune) Overview
Mechanism
Immunosuppressant
Inhibits Calcineurin, Decreasing IL-2
Indications
Prevent Transplant Rejection
Psoriasis
Rheumatoid Arthritis
Considerations
Monitor Plasma Levels
Avoid Grapefruit Juice
Increased Risk of Lymphoma
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2 mins
Multiple Sclerosis Interventions
Drug Therapy
Corticosteroids
Interferon Beta
Dimethyl Fumarate (Tecfidera)
Fingolimod (Gilenya)
Mitoxantrone (Novantrone)
Natalizumab (Tysabri)
Considerations
Increase Exercise
Identify Triggers
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2 mins
Tuberous Sclerosis
Characteristics
Autosomal Dominant
Signs and Symptoms
Hamartomas in CNS and Skin
Phakoma
Intellectual Disability (Mental Retardation)
Seizures
Subependymal Giant Cell Astrocytoma
Adenoma Sebaceum
Shagreen Patch
Ash-leaf Spots
Renal Angiomyolipoma
Cardiac Rhabdomyoma
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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
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Pathophysiology
Defective PIG-A Gene
Deficiency of DAF (Decay Accelerating Factor CD55)
Symptoms
Dark Urine in the Morning
Intravascular Hemolysis
Thrombosis
Diagnosis
Decreased CD55 and CD59
Treatment
RBC Transfusion
Eculizumab
Bone Marrow Transplant is Curative
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3 mins
Follicular Lymphoma
Derives from Germinal Center
Occurs in adults
T14;18
BCL 2 overexpression
BCL 2 inhibits apoptosis
Indolent
Generalized lymphadenopathy
Bone marrow involvement
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2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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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
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
Memantine
Indications
Alzheimer's Disease
Mechanism of Action
NMDA Receptor Antagonist
Prevents Excitotoxicity
Side Effects
Confusion
Hallucinations
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1 min
Neurofibromatosis Type 2
Pathophysiology
Autosomal-Dominant
Chromosome 22
Signs and Symptoms
Vestibular Schwannoma
Meningioma
Ependymoma
Cafe Au Lait Spots
Cataracts
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2 mins
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
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2 mins

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