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Congenital Diseases > Chapter 6 > Flashcards

Chapter 6 Flashcards

0
Q

What is anemia?

A

A condition in which the blood does not have enough healthy red blood cells.

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1
Q

What is hemoglobin?

A

A protein in Red Blood Cells that carry oxygen.

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2
Q

What is the description of Sickle Cell Anemia?

A

Abnormal form of hemoglobin, more common in African Americans.

  1. Red blood cells that clump together.
  2. Impairs circulation
  3. damages blood vessels and organs
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3
Q

What are S & S of Sickle Cell Anemia?

A
  1. Attacks of intense pain (crisis) in arms, legs, or abdomen, due to lack of oxygen.
    (heart will compensate by beating faster)
    2.Chronic: Jaundice, pail/pallor

*Infections, stress, and extreme temps. may trigger crisis.

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4
Q

What is the diagnostic procedure for Sickle Cell Anemia?

A

Infant screening, blood smear

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5
Q

What is the treatment for Sickle Cell Anemia?

A
  1. Provide adequate oxygen, hydration and pain control

2. In extremeBlood transfusions, bone marrow transplant.

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6
Q

Prevention for Sickle Cell Anemia?

A

None

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7
Q

What are Neural Tube Defects?

A

Incomplete closure of one or more vertebrae between day 20-23 of gestation.

Ex. = Spina Bifida, meningocele, mymenengiceole

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8
Q

What is the etiology of Neural Tube Defects?

A

Unknown.

Research shows lack of folic acid as a cause.

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9
Q

S & S of Neural Tube Defects?

A

Sac-like protrusion,
dysfunctional bowel/bladder
partial paralysis,
club foot

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10
Q

Treatment of Neural Tube Defects?

A

No cure. Treatment ranges from none to surgical repair and supportive measures.

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11
Q

Prevention of Neural Tube Defects?

A

Folic acid prior to conception.

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12
Q

Prognosis of Neural Tube Defects?

A

Spina Bifida has the best. Myelomeningocele has the worst.

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13
Q

What is Hydrocephalus?

A

Too much cerebrospinal fluid (CSF) in ventricles of the brain. Fluid not able to drain properly.

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14
Q

What is the etiology of Hydrocephalus?

A
  1. Genetic defect
  2. Brain trauma
  3. Meningitis
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15
Q

S & S of Hyrdocephalus?

A

Enlarged head,
abnormal muscle tone,
high pitched cry.

In older children - nausea, vomiting, blurred vision, balance, coordination, and walking problems.

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16
Q

Treatment and Prevention of Hyrdocephalus?

A 
T = surgical - shunt fluid away from the ventricles to abdomen
P = prenatal care, avoid head injuries, update immunizations
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17
Q

What is Cerebral Palsy?

A

Developmental defect do to lack of oxygen supplied to the brain.

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18
Q

S & S of Cerebral Palsy?

A 
Motion problems
Muscle contractions, 
Muscle weakness, 
underdeveloped limbs.
difficulty speaking
rhythmic involuntary movement of the eyeball
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19
Q

Treatment and Prevention of Cerebral Palsy?

A 
T = No cure - therapeutic treatment *Stem Cell
P = Early and good prenatal care, proper delivery care
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20
Q

What is a Cleft (separation) Lip and Palate?

A

Cleft in lip.

Palate = hole in the middle of the roof of the mouth

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21
Q

What is the etiology of Cleft Lip and Palate?

A

Cause unknown. Possibly maternal smoking.

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22
Q

S & S of Cleft Lip and Palate?

A

Physical cleft lip or hole in roof of mouth.

Difficulty in nursing/eating

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23
Q

Treatment and Prevention of Cleft Lip and Palate?

A 
Treatment:
1. Surgery.
2. Feeding devices.
3. Nutritional and Speech therapy.
Prevention = avoid smoking before or during pregnancy
24
Q

What is Tracheoesophageal Fistula (TEF) ?

Fistula = a connection of two things that are not normally connected.

A

TEF = Connection between esophagus and the trachea

25
Q

What is Esophageal Artesia?

A

Artresia = esophagus doesn’t form completely so food can’t reach stomach

26
Q

S & S of Tracheoesophageal Fistula (TEF) and Artresia?

A

Frothy white bubblers in mouth, vomiting, coughing or choking when feeding, cyanosis, dyspnea

27
Q

Treatment and Prevention of TEF and Artesia?

A 
T = Surgery within a few days of birth. 
P = None. Proper prenatal care.
28
Q

What is Pyloric Stenosis?

A

Narrowing of the pylorus causing an obstruction of the flow into the small intestine which is more common in boys.

29
Q

What are S & S of Pyloric Stenosis?

A
  1. Projectile vomiting and palpable mass in epigastrium just below rib cage.
    May also have starvation and dehydration.
30
Q

What is the Treatment and Prevention of Pyloric Stenosis?

A 
T = Surgery - Prognosis good with successful surgery.
P = Unknown
31
Q

What is Malrotation with Volvulus?

A

Twisting of the large intestine that end up with a kinks that leads to blockage. 70% of the time it’s associated with other congenital abnormalities.

32
Q

S & S of Malrotation with Volvulus?

A
  1. Abdominal pain and/or swollen abdomen - infant will draw legs up
  2. Vomit up bile
  3. Bloody stools
33
Q

Treatment and Prevention of Malrotation with Volvulus?

A 
T = Surgery - prognosis good with successful surgery
P = None
34
Q

What is Hirschsprungs Disease?

A

Obstruction and dilation of colon with feces because of the lack of nerves needed in the large intestine.

35
Q

S & S of of Hirschsprungs?

A
  1. No bowel movement within the first 24-48 hours of life.
  2. Evidence of Down Syndrome
  3. Swollen abdomen due to colon being obstructed
  4. May have fever, failure to thrive
36
Q

How to Diagnose Hirschsprungs?

A

Rectal biopsy - shows there is no nerve innervation

37
Q

Treatment and Prevention of Hirschsprungs ?

A 
T = Surgery - removal of defective colon and reattach sections that are working. Prognosis good with successful surgery. Left untreated, possible death
P = None
38
Q

What is Undescended Testes (Cryptorchidism)?

A

One or both of the testicles being undescended or becoming undescended in the scrotum.

39
Q

Etiology of Undescended Testes (Cryptorchidism)?

A

Unknown, but believe there is a link between undescended testes and estrogen use while mother is pregnant. Seen in premature births

40
Q

S & S of Undescended Testes (Cryptorchidism)?

A

One or both of testes not felt in scrotum.

41
Q

Treatment and Prevention of Undescended Testes (Cryptorchidism)?

A 
T = Monitor first two years of life. Warm baths can help the testicle come down. If not, may need surgery.
P = Avoid excessive levels of estrogen while pregnant
42
Q

What is Muscular Dystrophy?

A

Genetic disorder of skeletal muscle in which we see bilateral muscle wasting.

43
Q

Etiology of Muscular Dystrophy?

A

Result of an X-linked recessive disorder.

44
Q

S & S of Muscular Dystrophy?

A
  1. Weak muscles (muscle deterioration), fatigue, waddling gait, or toe walking
  2. Starts between ages 3-5. By age 9-12 in wheelchair
45
Q

Treatment and Prevention of Muscular Dystrophy?

A 
T = No cure but physical therapy and orthopedic appliances help retain mobility.
P = None
46
Q

Prognosis of Muscular Dystrophy?

A

Poor - Fatal normally at 10-15 years old.

47
Q

What is Cystic Fibrosis?

A

A disease of the exocrine glands which ends up producing too much mucus especially in lungs and bronchus.
Exocrine glands produce mucus and sweat.

48
Q

S & S of Cystic Fibrosis?

A
  1. Large amounts of mucus production and coughing. Respiratory infections. Sweat glands causing a salty/sweaty tasting skin.
  2. No bowel movement within first 24-48 hours of life.
49
Q

Diagnosis of Cystic Fibrosis?

A

Sweat testing but can confirm with DNA testing.

50
Q

Treatment and Prevention of Cystic Fibrosis?

A

T = No Cure, but use antibiotics to fight recurrent infections and medication to break down mucus.
*Postural drainage used to clear airways. Gene therapy and omega 3 supplements.
P = None

51
Q

What is Down Syndrome (Trisomy 21)?

A

The presence of an extra chromosome 21 (3 total).

52
Q

S & S of Down Syndrome?

A
  1. Small round head
  2. Rounded corners of the eyes
  3. Flat nose
  4. Excessive skin at nape of neck
  5. two creases in hands instead of three
  6. White spots on iris (brushfield spots)
  7. Heart defects
53
Q

Treatment and Prevention of Down Syndrome?

A 
T = No cure, but minimize potential complications.
P = centered around age of mother giving birth.
54
Q

What is Tourette Syndrome?

A

Disorder of nervous system characterized by involuntary movements.

55
Q

S & S of Tourette Syndrome?

A
  1. Involuntary movements. Ex: facial tics, throat clearing, eye blinking, shoulder shrugging.
  2. May say inappropriate phrases or curse
56
Q

Diagnosis of Tourette Syndrome requires 4 things?

A
  1. Start tics before age 1.
  2. No other brain problem that may cause symptoms
  3. Tics must occur every day; at least several times a day, for at least 1 year.
  4. Both motor and vocal tics must be present.
57
Q

Treatment and Prevention of Tourette Syndrome?

A 
T = No cure, some antipsychotic medication will relieve symptoms. Breathing exercises and stress relievers minimize symptoms.
P = Unknown but prognosis is lifelong disease

Congenital Diseases (2 decks)

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