Thomas Shared "youworld topics" - 101 Picmonics

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youworld topics

Beriberi (Thiamine Deficiency)
Thiamine deficiency
Dry beriberi
Polyneuritis
Muscle wasting
Wet beriberi
Dilated Cardiomyopathy
Edema
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50 secs
Cyclobenzaprine
Mechanism
Skeletal Muscle Relaxant
Structurally related to Tricyclic Antidepressants (TCAs)
Indications
Muscle Spasms
Side Effect
Anticholinergic Effects
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Diamond Blackfan Anemia
Diamond Blackfan Anemia
Rapid-onset anemia within 1st year of life due to intrinsic defect in erythroid progenitor cells
Macrocytic nonmegaloblastic anemia (pure red cell aplasia)
Increased % HbF (but decreased total Hb)
Decreased Reticulocytes
Triphalangeal thumbs (upper extremity malformations) in up to 50% of cases
Short stature
Craniofacial abnormalities (ex. Cleft Lip)
Webbed Neck
Tx: Corticosteroids and blood transfusions
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Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
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2 mins
Essential Fructosuria
Autosomal Recessive
Defect in fructokinase
Fructose to fructose 1-P
Benign
Fructose appears in blood and urine
Fructose does not enter cells
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53 secs
Familial Hyperchylomicronemia (Type I)
Autosomal-Recessive
Lipoprotein Lipase Deficiency
ApoCII Deficiency
Elevated Chylomicrons
Complications
Acute Pancreatitis
Pruritic Xanthomas
Hepatosplenomegaly
Diagnosis
Creamy Supernatant
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Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
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2 mins
Fructose Intolerance
Pathophysiology
Deficiency of Aldolase B
Fructose 1-P To DHAP And GA
Accumulation Of Fructose-1-Phosphate
Inhibition Of Glycogenolysis
Inhibition Of Gluconeogenesis
Clinical Features
Hypoglycemia
Vomiting
Jaundice
Cirrhosis
Autosomal Recessive
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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
I-cell disease
Mechanism/Cause
Decrease in Mannose-6-Phosphate
Defect in Phosphotransferase
Proteins are excreted extracellulary
High Plasma levels of lysosomal enzymes
Failure of cis Golgi to phosphorylate Mannose residues
Symptoms/Findings
Clouded Corneas
Often fatal in Childood
Coarse Facies
Restricted joint movement
Also known as Mucolipidosis Type II
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III—Dysbetalipoproteinemia
Autosomal Recessive
Chylomicrons Increased
Defective ApoE
VLDL Increased
Premature Atherosclerosis
Tuberoeruptive xanthoma
Xanthom striatum palmare
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IIa- Familial hyper-cholesterolemia
Familial hyper-cholesterolemia
Autosomal Dominant
Absent or defective LDL receptors
Increased LDL, cholesterol in blood
Accelerated atherosclerosis (may have MI before age 20)
Tendon (Achilles) xanthomas
Corneal arcus
Heterozygotes (1:500) have cholesterol ≈ 300mg/dL; homozygotes (very rare) have cholesterol ≈ 700+ mg/dL
Tx for Hypercholesterolemia (statin first-line)
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Juvenile Idiopathic Arthritis (JIA)
Most common cause of Arthritis in Children. Onset before Age 10.
More common in females
Persistent joint swelling (synovial thickening, accumulation of synovial fluid)
Subtypes
Polyarticular JIA
Severe symmetrical arthritis
Dactylitis
Pauciarticular JIA
Typically involves large joints (shoulders, elbows, hips and knees)
20-25% have Uveitis. Increased risk of blindness in children.
Systemic-onset JIA
Also known as Still's disease
Begins with systemic symptoms (fever, rash, elevated WBC, anemia, hepatosplenomegaly, lymphadenopathy). Described as "spikes of rash and fever."
Arthritis begins later in the course of the disease
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Langerhans Cell Histiocytosis
Basic Principles
Lytic Bone Lesions + Skin Rash
Recurrent Otitis Media + Mastoid Bone Mass
Birbeck (tennis racket) granules
CD1a+ and S100+
Letterer-Siwe Disease
Letterer-Siwe Disease
Infants (< 2 y/o)
Multiple Organ Failure
Eosinophilic Granuloma
Eosinophilic Granuloma
Adolescents or young adults
Hand-Schüller-Christian Disease
Hand-Schüller-Christian Disease
Diabetes Insipidus
Scalp Rash
Exophthalmos
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Ornithine Transcarbamylase Deficiency
Pathophysiology
Most Common Urea Cycle Disorder
X-Linked Recessive
Signs and Symptoms
Hyperammonemia
Decreased BUN
Carbamoyl Phosphate is Converted to Orotic Acid
Pyrimidine Synthesis Pathway
Evident in Babies
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3 mins
Orotic Aciduria
Pathophysiology
Autosomal Recessive
Defect in UMP Synthase
De Novo Pyrimidine Synthesis Pathway
Symptoms
Increased Orotic Acid in Urine
Megaloblastic Anemia
No Response to B12 or Folate
Non-Hyperammonemic
Failure to Thrive
Treatment
Oral Uridine Monophosphate
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2 mins
Polymyxins
Mechanism of Action
Cationic
Act Like Detergents
Bind to Cell Membranes of Bacteria
Disrupt Their Osmotic Properties
Indications
Resistant Gram-Negative Infections
Side Effects
Neurotoxicity
Renal tubular necrosis
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3 mins
Pompe Disease
Pathophysiology
Type II Glycogen Storage Disease
Autosomal Recessive
Deficiency of Lysosomal Alpha 1,4 Glucosidase
Acid Maltase
Signs and Symptoms
Hypertrophic Cardiomyopathy
Hepatomegaly
Macroglossia
Hypotonia
Diagnosis
Increased Glycogen within Lysosomes
Increased Lactate Dehydrogenase (LDH)
Increased Creatine Kinase (CK/CPK)
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2 mins
Spinothalamic Tracts
Ascending Pathway (Sensory)
Lateral
Temperature
Pain
Anterior
Crude Touch
Pressure
Decussates at Anterior White Commisure
Lesion
Contralateral Anesthesia
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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

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