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(45, XO) what is the most common sex abnormality in females? - ✔✔turner syndrome
what syndrome causes the absence of oocytes (ovaries) by 2 years of age? (infertility) -
✔✔turner syndrome
what are the clinical manifestations of turner syndrome? - ✔✔-lymphedema in the
hands and feet
-short/webbed neck
-short stature
-delayed puberty/lack of development
-low posterior hairline
-can be associated with congenital heart defects.
what syndrome causes majority of fetuses to be spontaneously aborted in first
trimester? - ✔✔turner syndrome
what does sickle cell anemia look like? - ✔✔Hgb in RBC create an elongated shape.
what is the primary symptom of sickle cell anemia. - ✔✔PAIN: increased sickle cells
causes occlusion in vessels and causes ischemia to organs causing pain.
what are priority interventions for sickle cell anemia? - ✔✔fluids, o2, pain meds
can sickling of cells be reversed? - ✔✔with o2 and iv fluids.
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,what are the risk factors of sickle cell? - ✔✔autosomal recessive aka family history is a
risk factor.
what are the two types of sickle cells? - ✔✔-Hemoglobin ss (Sickle cell anemia): most
common and most severe: RBC life span 10-20 days
-Hemoglobin SC: mild, life span of 30 days.
what are the mild and severe manifestations of sickle cell - ✔✔-mild: impaired growth,
infection (leading cause of death*) & pain
-Severe : Stroke (CVA*), death, CHF
what is acute chest syndrome specifically unique to? - ✔✔sickle cell
what causes sickle cell crisis? - ✔✔-fever, dehydration, change in elevation, stress
(treat with iv fluids, o2, pain management)
what are alloimmunizations caused by? - ✔✔decreased rbcs caused by lots of RBC
transfusions
what is alloimunization referring to? - ✔✔an immune response to foreign antigens from
another human (blood): avoid transfusion if possible want to treat.
what does increased sickling (severe) cause? what do you do? - ✔✔vaso-occlusive crisis.
-assess and give iv fluids, pain meds, rest, massage, o2 possible antibiotics
when a trigger (fever, hypoxia, stress) increases sickling (mild) what does the RN do? -
✔✔increase fetal hgb by administering HYDROXYUREA at the same time every day*
what is cystic fibrosis? - ✔✔a genetic disorder caused by a defective gene and its protein
product which produces thick sticky mucus
what disorder causes a thick sticky mucus - ✔✔cystic firbosis
what does the thicky mucus in CF cause? - ✔✔-lung clog: can cause life threatening
infections*
-pancreas obstruction: stops natural enzymes from breaking down food aka
*malnutrition
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, what will a patient with cystic fibrosis usually be on for prevention? - ✔✔-prophylactic
antibiotic for lung infections
what are the risk factors of CF? - ✔✔caucasian race or family history (autosomal
recessive)
what is the typical assessment you do for a patient with cystic fibrosis? - ✔✔-meconium
ileus (bowel obstruction) *1st s/s seen
-stools: statorrhea
-persistent prod. cough
-wheezing
-resp infections (frequency)
-malabsorption (F2T)
-salty skin
what is the first symptom seen for CF? - ✔✔meconium ileus (bowel obstruction)
what do you do to diagnose CF? - ✔✔newborn screening/assessment: Sweat chloride
test**
what is the goal for a patient with CF? - ✔✔ensure adequate nutrition: proper nutrition
intake
how do you insure proper nutrition intake for a pt with CF? - ✔✔-calories should be
150% RDA
-Fat & proteins should be 200%
-high fiber
-> fluids
->activity.
what medications should you give a pt with CF? - ✔✔pancreatic enzymes with all
meals to >digestion
-growth hormone
-laxatives
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