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31 Cards in this Set

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Trisonomy 21 disorder
Down Syndrome
What are the 2 causes of Down syndrome?
Chromosomal disorder
Maternal age
Small head with flat facial features
Slanted eyes
Single crease in palm of hand
Heart defects, leukemia, dermatitis
Decreased IQ and speech
Down syndrome
How do you test for in-utero Down syndrome
Amniocentisis
XXY
Klinefelter syndrome
Both male and female sexual characteristics, low levels of ______hormone. less hair, gynecomastia, infertility.
Klinefelter syndrome
Testosterone
X gene only
Turner syndrome
Abnormally large growth due to an excess of growth hormone during childhood, before the bone growth plates have closed.
Gigantism
A chronic metabolic disorder in which there is too much growth hormone and the body tissues gradually enlarge.
Acromegaly
What is the cause for both gigantism and acromegaly?
Pituitary adenoma
A hyperglycemic patient with enlarged organs and structures.
Gigantism/Acromegaly
What causes hyperglycemia in a patient with acromegaly?
Increased hepatic glucose output and/or GH impairment of insulin action
An idiopathic cause leading to uneven testicular height, empty scrodum, making them at risk for______.
Cryptoorchidism
Congenital urethral opening is at the top side of the penis
Epispadias
Congenital urethral opening is at the underside of the penis
Hypospadias
Abnormal stream during urination
Hypo/epispadias
Kidney's with fluid filled cysts
Polycystic Kidney Disease (PCKD)
PCKD
Autosomal dominant: onset in _______
Autosomal recessive: onset in ______
Dominant: adults
Recessive: kids
HTN, pain, abdominal or back mass, hematuria, frequent kidney infections...disease?
PCKD
Those with PCKD are at a higher risk for what 3 conditions?
Cerebral aneurysms
Mitral valve prolapse
Diverticulosis
Painful outpouches in the lining of the colon
Diverticulosis
Outpouches in the lining of the colon
Diverticulosis
HbS vs HbA
Sickle Cell Anemia
Autosomal recessive RBC disorder
Sickle Cell Anemia
Abdominal pain, bone pain, ulcerations, thrombi, infarcts
Sickle Cell Anemia
Jaundice and hematuria
Hemolytic crisis
Name the three crises of Sickle Cell Anemia.
Hemolytic crisis
Splenic sequestration crisis
Aplastic crisis
Lateral curvature of the spine caused by congenital, and cerebral palsy.
Scoliosis
Ventricular spetal defect
Aortic transposition
Pulmonary stenosis
R ventricular hypertrophy
Tetralogy of fallot
Congenital hear defect transposition of the great vessels
Tetralogy of Fallot
Cyanosis, difficulty feeding, failure to thrive, clubbing, sudden death
Tetralogy of Fallot