Term
|
Definition
Predominately male infants
Deficiency of abdominal wall musculature, undescended testes, urinary tract abnormalities
Oligohydramnios, pulmonary hypoplasia, cardiac anomalies, UTIs requiring antibiotic prophylaxis |
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Term
|
Definition
Less than 30 normal
Greater than 60 diagnostic of CF |
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Term
|
Definition
Early childhood; most common form
Female more than male
May have uveitis
RF negative
May be ANA positive |
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Term
|
Definition
RF+ form more in adolescense
More common in females
Uveitis uncommon
May be RF or ANA positive
RF+ has poor prognosis |
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Term
|
Definition
Can present at any age
males and females equally
Uveitis rare
RF and ANA usually negative
Poor prognosis |
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Term
|
Definition
Late childhood
Males more than females
May have acute uveitis
RF and ANA usually negative |
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Term
| Jones criteria for rheumatic heart disease |
|
Definition
2 major OR 1 major and 2 minor
Exception: chorea
Major: polyarthritis, carditis, nodules, erythema marginatum, chorea
Minor: fever, arthralgia, ESR or CRP, leukocytosis, heart block, hx of RHD |
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Term
|
Definition
Most common
Many asymptomatic at birth
sensorineural hearing loss, MR, chorioretinitis, IUGR, seizure, hepatosplenomegaly, jaundice, thrombocytopenia, petechiae, microcephaly,periventricular calcifications, hyperbilirubinemia
Virus isolated from urine |
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|
Term
|
Definition
Maternal primary rubella
Silent and progressive infection
hepatosplenomegaly, hepatitis, jaundice, thrombocytopenia, blueberry muffin lesions, hemolytic anemia, meningoencephalitis, bony lucencies, heart abnormalities, deafness, CHD, retinopathy and cataracts in salt and pepper distribution, microcephaly, IDDM, thyroid dysfunction
culture from urine, CSF or nasopharynx |
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Term
|
Definition
More severe in first trimester, more likely in third trimester
Chorioretinitis, hydrocephalus, parenchymal cerebral calcifications, hepatomegaly, thrombocytopenia, jaundice
Serology
Treat with pyrimethamine and sulfadiazine for one year |
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|
Term
| Vitamin D Deficiency Rickets |
|
Definition
Lack of exposure to sunlight, lack of milk products, anticonvulsant therapy, intestinal malabsorption
Decreased GI absorption of calcium leads to low serum calcium and PTH stimulation
Tetany, growth retardation, frontal bossing, widening of joints, seizure
LOW CALCIUM, LOW PHOS, HIGH ALK PHOS, HIGH PTH, LOW 25 VIT D |
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|
Term
| Vitamin D-Dependent Rickets |
|
Definition
Deficiency in hydroxylation of 25 Vit D
Rare inherited disorder
Similar in appearance to Vit D deficiency
Must be treated with 1,25 Vit D |
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|
Term
| Hypophosphatemic rickets (Vitamin D Resistant Rickets) |
|
Definition
Phosphate leak in renal tubule
AD or x-linked
Defective bone mineralization
Treat with phosphorus supplementation
LOW PHOS, NORMAL CA, NORMAL PTH, NORMAL 25 VIT D, LOW OR NL 1,25 VIT D |
|
|
Term
| Renal insufficiency rickets |
|
Definition
Vitamin D and PTH abnormalities
Growth failure, bowed legs
Treat with low phos diet and phos bind
HIGH PHOS, LOW CALCIUM, HIGH PTH, HIGH BUN/CR, LOW 25 VIT D, LOW 1,25 VIT D |
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|
Term
|
Definition
Genetic resistance to PTH
Round facies, brachydactyly, short stature, developmental delay
Treat with calcium supplementation
LOW CALCIUM, HIGH PHOS, VERY HIGH PTH |
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|
Term
| Syndromes causing mineralcorticoid excess |
|
Definition
11B1: Virilization
CYP17 (17alphahydroxylase): ambiguous genitalia, incomplete virilization |
|
|
Term
| Syndromes causing androgen excess |
|
Definition
| CYP 21, CYP11B1, 3BHSD (females only) |
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Term
|
Definition
Cyclophosphamide
Decreased fertility |
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Term
|
Definition
|
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Term
|
Definition
| Pancreatitis, coagulation abnormalities, anaphylaxix |
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|
Term
|
Definition
|
|
Term
|
Definition
| Ototoxicity, renal toxicity |
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Term
|
Definition
| Bladder irritation, SIADH |
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|
Term
|
Definition
|
|
Term
|
Definition
| Fanconi's RTA, bladder irritation |
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Term
|
Definition
| Neurotoxicity, peripheral neuropathy, constipation |
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Term
|
Definition
3 second spike and wave
Ethosuximide or valproate |
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|
Term
| Juvenile myoclonic epilepsy |
|
Definition
Generalized polyspikes
Valproate or benzos |
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Term
|
Definition
Hypsarrhythmia
ACTH, prednisone |
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Term
|
Definition
Generalized slow spike and wave
Background slowing
May require multidrug treatment,intractable
Ketogenic diet, vagus nerve stimulation
Clonazepam, valproate |
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Term
|
Definition
Centrotemporal spikes
Spontaneously remits
Carbamazepine, gabapentin |
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Term
|
Definition
Complex partial with temporal lobe sharp waves
Carbamazepine |
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Term
|
Definition
| Carbamazepine, lamotrigine, oxcarbazepine |
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|
Term
|
Definition
|
|
Term
| Adverse effects carbamazepine |
|
Definition
| Bone marrow suppression, SIADH |
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|
Term
| Adverse effects Felbamate |
|
Definition
Fatal aplastic anemia
Hepatotoxicity |
|
|
Term
| Adverse effects Gabapentin |
|
Definition
| Dizziness, lethargy, ataxia, weight gain |
|
|
Term
|
Definition
lethargy, ataxia, headache, GI distress
SKIN RASH
DIFFICULT TO MIX WITH OTHER MEDS |
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|
Term
| Adverse effects Levetiracetam (Keppra) |
|
Definition
| Somnolence, dizziness, asthenia, headache, behavior problems |
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|
Term
| Adverse effects Oxcarbazepine |
|
Definition
| Dizziness,fatigue, nausea, SIADH |
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|
Term
| Adverse effects Phenytoin |
|
Definition
| Hirsutism, gum hypertrophy |
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|
Term
| Adverse effects Phenobarbital |
|
Definition
| Sedation, impaired cognitive ability,hyperactivity, irritability |
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|
Term
|
Definition
| Shortening QT syndrome, aggression, anxiety, dizziness, fatigue, headache, somnolence |
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|
Term
| Adverse effects Topiramate |
|
Definition
| Psychomotor slowing, memory difficulties, confusion, sedation, weight loss, paresthesias |
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|
Term
| Adverse effects Valproate |
|
Definition
Depakote
Weight gain, hair loss, PCOS, pancreatitis, hepatoxicity |
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|
Term
| Adverse effects Zonisamide |
|
Definition
| Cognitive effects, weight loss, kidney stones, psychosis, sulfa allergy |
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|
Term
| Adverse effects Isoniazid |
|
Definition
| Hepatitis, peripheral neuritis, interference with phenytoin levels |
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|
Term
|
Definition
| Orange discoloration of body fluids, influenza-like influenza, Hepatitis |
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|
Term
| Adverse effects pyrazinamide |
|
Definition
| Hyperuricemia, hepatotxicity |
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|
Term
| Adverse effects ethambutol |
|
Definition
| renal toxicity, optic neuritis, GI upset |
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