Lisa Shared "Step" - 394 Picmonics

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Step

Maternal Phenylketonuria
Pathophysiology
Lack of Proper Diet During Pregnancy; Like NutraSweet
Signs and Symptoms
Congenital Heart Defects
Growth Retardation
Intellectual Disability (Mental Retardation)
Microcephaly
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1 min
Adenosine Deaminase Deficiency
Adenosine to Inosine
Excess ATP
Inhibition of Ribonucleotide Reductase
Prevents DNA Synthesis
Decreases B Cells and T Cells
Major cause of SCID
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1 min
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
Zinc Deficiency
Mechanism
Used in Over 100 Enzymes
Zinc Finger Formation
Signs and Symptoms
Delayed Wound Healing
Hypogonadism
Decreased Adult Hair
Dysgeusia
Anosmia
Perioral Rash
Acrodermatitis Enteropathica
Increased Risk in Patients with Cirrhosis
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2 mins
Marasmus
Deficiency of all Nutrients
Body Weight < 60% of Normal
Tissue and Muscle Wasting
Loss of Subcutaneous Fat (Buttocks and Thighs)
Variable Edema
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2 mins
Wernicke-Korsakoff Syndrome
Thiamine deficiency
Confusion
Ophthalmoplegia
Ataxia
Korsakoff
Confabulation
Personality Changes
Memory loss
Alcoholics
Damage to medial dorsal nucleus
Damage to mammillary bodies
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2 mins
Maple Syrup Urine Disease
Pathophysiology
Defect in alpha ketoacid dehydrogenase
Blocked degradation of branched chain amino acids
Leucine
Isoleucine
Valine
Signs and Symptoms
Seizures
Intellectual Disability (Mental Retardation)
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1 min
Vitamin K
Sources
Dark Green Leafy Vegetables
Synthesized by Intestinal Flora
Mechanism
Activated by Epoxide Reductase
Gamma Carboxylation of Glutamate
Activation of Clotting Factors II, VII, IX, X, Protein C and S
Considerations
Deficiency with Broad Spectrum Antibiotics
Neonatal Hemorrhage with Increased PT and aPTT
Warfarin is a Vitamin K Antagonist
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4 mins
Lesch-Nyhan Syndrome
X-linked Recessive
Absence of HGPRT
Hypoxanthine to IMP
Guanine to GMP
Excess uric acid
Gout
Retardation
Self-mutilation
Choreoathetosis
PRPP is increased
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2 mins
Vitamin D Toxicity
Kidney stones
Metastatic calcification of the kidney
Loss of appetite
Abdominal Pain
Sarcoidosis
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1 min
Kwashiorkor
Protein Deficiency
Swollen Belly
MEALS
Malnutrition
Edema
Anemia
Liver Malfunction
Skin Lesions
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2 mins
Vitamin D Deficiency
Signs & Symptoms
Rickets in children
Bending bones
Rachitic rosary
Breast milk has decreased vitamin D
Osteomalacia in adults
Tetany from Hypocalcemia
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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
Vitamin B6 (Pyridoxine) Deficiency
Deficiency From Isoniazid
Deficiency From Oral Contraceptives
Seizures
Hyperirritability
Peripheral Neuropathy
Sideroblastic Anemia
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3 mins
Hyperammonemia
Pathophysiology
Hereditary Urea Cycle Defects
Acquired Through Liver Disease
Inhibits the Citric Acid Cycle
Signs & Symptoms
Somnolence
Slurring of Speech
Tremor
Cerebral Edema
Vomiting
Blurring of Vision
Treatment
Limit Protein in Diet
Lactulose
Benzoate Binds Amino Acid for Excretion
Phenylbutyrate
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4 mins
Vitamin B5 (Pantothenate)
Mechanism
Pantothenate
Pyruvate Dehydrogenase
Coenzyme A
Fatty Acid Synthase
Deficiency Signs and Symptoms
Enteritis
Dermatitis
Alopecia
Adrenal Insufficiency
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2 mins
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
Vitamin B12 (Cobalamin) Mechanism and Deficiency
Mechanism
Cobalamin
Large reserve pool in the liver
Homocysteine to methionine
Methylmalonyl CoA to succinyl CoA
Deficiency Signs and Symptoms
Macrocytic Megaloblastic Anemia
Hypersegmented Neutrophils
Neurologic defects
Posterior column
Lateral corticospinal tract
Spinocerebellar tract
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5 mins
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
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3 mins
Vitamin A (Retinol) Function and Deficiency
Mechanism
Retinol
Constituent of Visual Pigments
Differentiation of Epithelial Cells into Specialized Tissue
Signs and Symptoms
Night Blindness
Dry Skin
Considerations
Used to Treat Measles
Antioxidant
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2 mins

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