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49 Cards in this Set
- Front
- Back
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Of the cyanotic heart diseases, what is the only one to present with severe cyanosis in the first few hours of life |
Transposition |
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What is the most common cause of congenital heart disease |
VSD |
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When it comes to ASD, which type is most common |
Ostium Secundum |
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More than 2/3 of people with coarctation of the aorta also have what other congenital heart defect |
Bicuspid aortic valve |
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What congenital heart defect has differential cyanosis |
Coarctation of the aorta |
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What congenital heart defect has a "3" sign on CXR and "rib notching" |
Coarctation of the Aorta |
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What congenital heart defect has an "egg shaped silhouette" |
Transposition of the Great Vessels |
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What are the parts of DiGeorge syndrome |
CATCH22 Cardiac Abnormalities (transposition) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia 22q11 deletion |
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What is the most common cyanotic heart disease of childhood |
Tetraology of Fallot |
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Name the congenital heart defect that on exam has a systolic ejection murmur at the left upper sternal border (due to right ventricular outflow obstruction) a right ventricular heave, and a single S2 |
Tetraology of Fallot |
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Name the age: Lifts head/chest when prone Tracks past midline Alerts to sounds; coos Recognizes parent; has social smile |
2 months |
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Name the age: Rolls front to back Grasps rattle Laughs and squeals Enjoys looking around |
4-5 months |
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Name the age: Sits unassisted Transfer objects; raking grasp Babbles Demonstrates stranger anxiety |
6 months |
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Name the age Crawls; pulls to stand Use 3 finger pincer grasp Says mama/dada; first words at 11 months Waves bye bye; plays pat-a-cake |
9-10 months |
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Name the age Walks alone; throws object Use finger pincer grasp Uses 1-3 words; follows 1 step commands Imitates actions; separation anxiety |
12 months |
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Name the age Walks up/down steps; jumps Builds a tower of 6 cubes Uses 2 word phases Follows 2 step commands; removes clothes |
2 years |
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Name the Age: Ride tricycle; climbs stairs with alt feet Copies a circle; uses utensils Uses 3 word sentences Brushes teeth with help; wash/dry hands |
3 years |
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Name the Age: Hops Copies a cross Knows colors and some numbers Cooperative play, plays board games |
4 years |
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Name the age: Skips, walks backwards Copies a triangle; ties shoes; knows L&R Prints letters Uses 5 word sentences Domestic role playing; plays dress up |
5 years |
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What is the normal development for males and females |
Thelarce --> Pubarche --> Growth Spurt --> Menarche Gonadarche --> Pubarche --> Adrenarche --> Growth spurt |
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What enzyme is deficiency in PKU |
Decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor |
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What amino acid becomes essential in PKU |
Tyrosine |
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How does PKU present |
Mental retardation Fair hair Fair skin Eczema Blond hair Blue eyes Musty urine odor |
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What acid base status might a person with severe CF have |
Hypochloremic metabolic alkalosis |
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Deficiency in alpha-galactosidase A Accumulate ceramide triheoside Presents with severe neuropathic limb pain Skin with angiokeratomas and telangiectasias Renal failure and increased risk stroke and MI XLR |
Fabrys Disease |
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No galactosylceramide and galactoside Accumulate galactocerbroside in brain Progressive CNS degeneration Autosomal recessive |
Krabbes Disease |
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Deficiency in glucocererosidease "crinkled paper" cells Anemia and Thrombocytopenia Normal life span Autosomal recessive |
Gauchers Disease |
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Deficiency sphingomyelinase Cherry red spot and hepatosplenomegaly Autosomal recessive |
Niemann Pick Disease |
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Deficiency hexosamindase Build up of GM2 ganglioside Normal until age 3-6 months Cherry red spot but no hepatomegaly |
Tay Sachs |
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Deficiency in Arylsulfatase A Accumulate sulfatide Demyelination leads to progressive ataxia and dementia Autosomal recessive |
Metachromatic leukodystrophy |
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Deficiency in alpha-L-iduronidase Corneal clouding Mental retardation Gargoylism Autosomal recessivw |
Hurler syndrome |
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Defieicny iduronate sulfatase No corneal clouding Mild mental retardation XLR |
Hunters |
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What is the test of choice for intussesception |
US |
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What causes meckels diverticulum |
Failure of the omphalomesenteric (or vitelline) duct to oblisterate |
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What is the study of choice for hirschprungs disease |
Barium enema |
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What is the test of choice for malrotation with volvulus if patient is stable |
Upper Gi |
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B cell deficiencies make you prone to what type of infections |
Encapsulated organisms |
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Why should neonates not be given ceftriaxone |
Increased risk of biliary sludging and kernicterus |
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What is the gold standard test for pertussis |
Culture |
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What do you see on CXR in RDS |
Ground glass appearance Air bronchograms |
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What does VACTERL stand for |
Vertebral Anal Cardiac Tracheal Esophageal Renal Limb Different anomalies |
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In what patients is omphalocele most commonly seen |
Trisomies Beckwith-Wiedemann syndrome |
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What is the most common presenting symptom for CP |
Delayed motor development |
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What does WAGR stand for |
Wilms tumor Aniridia GU abnormalities Mental Retardation |
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What is Beckwith-Wiedemann syndrome |
Hemihypertrophy Macroglossia Visceromegaly (can have Wilms tumor) |
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What is associated with opsoclonus/myoclonus and can cross the midline |
Neuroblastoma |
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What are the potential causes of leukocoria |
Retinoblastoma Congenital cataracts Retinopathy |
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Where in the bone is Ewing sarcoma commonly seen |
Midshaft of long bones |
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Where in the bone is osteosarcoma commonly seen |
Metaphyses of long bones |
