Jonathan Shared "Created" - 14 Picmonics

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Created

Disease Modifying Antirheumatic Drugs (DMARDs)
Response to therapy takes weeks
First Line
Methotrexate
Second Line
Sulfsalazine
Hydroxychloroquine
Minocycline
TNF-alpha inhibtors
Rheumatoid arthritis
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Porphyria cutanea tarda
Epidemiology
#1 most common porphyria in adults
Mechanism
Autosomal dominant mutation in uroporphyrinogen decarboxylase
Symptoms and Complications
Skin manifestations: blisters and bullae, hypo and hyperpigmented lesions due to photosensitivity effect of porphyrins
Tea-colored urine due to build-up of uroporphyrin
Urine fluoresces red/pink under wood's lamp
Treatment
Phlebotomy
Low-dose hydroxychloroquine is an alternative tx
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Acute Intermittent Porphyria (AIP)
Mechanism and Characteristics
Autosomal dominant
Defect in porphobilinogen deaminase (PD)
Signs and Symptoms
Worsened by alcohol and p450 inducers
6 P's
Treatment
Glucose loading and IV hemin
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Rett syndrome
Neurodevelopmental disorder that occurs mainly in girls
Characterized by normal development until 5-18 months old
Signs and symptoms
Loss of motor and language skills
Stereotypic hand movements (wringing of the hands)
Deceleration of head growth
Other features include seizures, intellectual disability, autistic features, and breathing abnormalities
Mechanism
Caused by de novo mutations in X-linked MECP2 gene
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Riedel's thyroiditis
Riedel's thyroiditis overview info
Epidemiology
Average age affected is ~40
Pathophys
FIbrous tissue replaces thyroid parenchyma
Signs and Symptoms
Fixed
Painless
Hard-as-wood (rock-like)
Histology
Fibrosis that extends beyond the thyroid capsule
Lymphoplasmacytic infiltrate with abundant IgG4 producing plasma cells
Do not confuse with Anaplastic carcinoma of the thyroid (painless, hard as wood thyroid in OLDER patients)
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Legg-Calve-Perthes disease
Pathophysiology
Idiopathic avascular necrosis of the proximal femoral epiphysis
Epidemiology
Most commonly seen in children ages 4-8
Males affected 5X more than females
Signs and symptoms
Insidious onset of painless limp followed by intermittent pain in knee, hip, groin, or thigh
Radiographic findings of asymmetric hips
Treatment
Containment of the hip within the acetabulum
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McCune-Albright syndrome
Defined by the 4 P's
Polyostotic fibrous dysplasia
Pigmented skin lesions (cafe-au-lait spots/"Coast of Maine" spots)
Precocious puberty (and other endocrine abnormalities)
Genetics
Displays mosaicism
Caused by a non-inherited, somatic, gain-of-function mutation of the GNAS gene of chromosome 20
X-ray
Well-circumscribed, radiolucent lesion with "ground glass" appearance
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Leuprolide
GnRH agonist
Continuous use inhibits FSH and LH secretion
Treatment uses
Prostate cancer
ER-positive breast cancer
BPH
Endometriosis
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Central Pontine Myelinolysis
Known as "Locked in Syndrome"
Mechanism
Too rapid correction of hyponatremia
Demyelination at the base of the pons
Damages corticobulbar and corticospinal tracts
Trochlear and Oculomotor nerves spared
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Fibromyalgia
Symptoms
Widespread musculoskeletal pain
Fatigue
Impaired concentration and attention
Depression and anxiety
Duration >3 months
Epidemiology
Most common in females age 20-55
Exam findings
Absence of joint or muscle inflammation
Normal acute phase reactants (ESR and CRP)
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Fanconi Anemia
Most common form of inherited aplastic anemia
Caused by inherited defects in non-homologous end-joining
Signs and Symptoms
Hypopigmented Areas of Skin
Cafe au lait spots
Microcephaly
Thumb abnormalities
Elevated serum AFP in 50% of cases
Increased HbF (Fetal Hemoglobin)
Diagnosis
Culturing lymphocytes and observing extensive chromosomal breakage in the presence of DNA cross-linking agents
Risk of developing
Acute myelogenous leukemia (AML)
Myelodysplastic syndrome
Squamous cell carcinoma of head, neck, or vulva
Treatment
Treatment
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Praziquantel
Mechanism of Action
Increases membrane permeability to Calcium ions
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Frontal lobe lesions
R-sided lesion
Disinhibited Behavior
L-sided lesion
Apathy and depression
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I-cell disease
Inherited lysosomal storage disorder
Defect in NAG-1 phosphotransferase enzyme
Lysosomal enzymes fail to be tagged for lysosomes
Increased lysosomal enzymes in the plasma
Signs and Symptoms
Coarse facial features
Corneal Clouding
Restricted joint movements
Often fatal in childhood
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