Neonatology Flashcards

1
Q

5 areas of Apgar score

A
  1. appearance: color2. pulse: heart rate3. grimace: response to stimuli4. activity: muscle tone5. respiration: respiration rate
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2
Q

The Apgar score is measured at ___ minute after birth and again at ___ minutes, and the total possible score is ___.

A

1, 5, 10

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3
Q

The Moro Reflex is also called the _____

A

startle reflex

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4
Q

In the Moro Reflex, a change in _____ causes extension and abduction of the extremities and fanning of the ____, followed by flexion and adduction of the extremities.

A

equilibrium, fingers

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5
Q

The Dance Reflex is also called the _____.

A

stepping reflex

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6
Q

The Sucking Reflex causes a newborn to ___ anything that touches the lips.

A

suck

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7
Q

The Rooting Reflex occurs when the cheek is touched or stroked along the side of the mouth, and the newborn turns its head toward the _____ and begin to suck.

A

stimulated side

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8
Q

The Palmar Grasp Reflex is flexion of the fingers caused by stimulation of the ______.

A

palm of the hand.

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9
Q

The Plantar Grasp Reflex is flexion of the toes when the ____ is gently stroked.

A

sole of the foot

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10
Q

The Crossed Extension Reflex is the adduction and extension of one leg when the _____ is stimulated. You

A

foot of the other leg

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11
Q

The Crawling Reflex is also called the _____.

A

symmetric tonic neck reflex

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12
Q

The Tonic Neck Reflex is also called the _____.

A

asymmetric tonic neck reflex

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13
Q

This reflex prevents the infant from rolling over until adequate ____ and ____ occurs.

A

neurologic and motor development

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14
Q

The Neck Righting Reflex occurs where turning the head to one side while the infant is in a ____ position causes rotation of the shoulders and trunk in the ____ direction.

A

supine, same

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15
Q

The Landau Reflex is that when the infant is held in a ____ position, it maintains a ____ with the head raised and the legs slightly flexed.

A

horizontal prone, convex arc

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16
Q

The Parachute Reaction is a variation of the ____, and persists for ___.

A

Moro reflex, life

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17
Q

In the Parachute Reaction, if ____ is normal, when the infant is dropped a short distance onto a soft surface, it will ____ the arms, hands and fingers on both sides of the body in a protective movement.

A

motor nerve development, extend

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18
Q

Birth before ___ weeks is considered premature

A

37

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19
Q

Infant Respiratory Distress Syndrome (IRDS) is also called _____

A

Hyaline Membrane Disease

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20
Q

Acute hypoxemia caused by infiltrates within the alveoli

A

IRDS

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21
Q

Inability of lungs to expand; there is inadequate surface area for proper gas exchange

A

IRDS

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22
Q

Tests involved in IRDS

A
  1. blood gas studies2. radiographic chest films
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23
Q

In IRDS, blood gas studies show reduced ____ and ineffective ____

A

oxygen tension; gas exchange

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24
Q

In IRDS, radiographic chest films show presence of ____ or ____

A

infiltrate or hyaline membrane

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25
Q

IRDS: acute ____ caused by _____ within the ____

A

hypoxemia, infiltrates, alveoli

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26
Q

IRDS: inability of ___ to expand; inadequate ____ for proper ___

A

lungs, surface area, gas exchange

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27
Q

In IRDS, lungs lack ____ needed to allow alveoli to expand

A

surfactant

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28
Q

Surfactant is normally produced in late ____

A

fetal life

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29
Q

In IRDS, treatment should begin within the first __ hours of life

A

48

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30
Q

3 options for IRDS treatment:

A
  1. carefully titrated supplemental oxygen through mechanical ventilation2. positive end-expiratory pressure (PEEP)3. drug therapy
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31
Q

In IRDS drug therapy, aerosol infusion of an exogenous surfactant such as ____ or ___ into the pulmonary tree by endotracheal tube

A

beractant or poractant

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32
Q

Serious chronic lung disease where lungs are stiff, obstructed and hard to ventilate

A

bronchopulmonary dysplasia (BPD)

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33
Q

What are the two tests to diagnose BPD?

A
  1. radiographs2. arterial blood gases
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34
Q

In BPD, radiographs show alveolar damage with a ____ appearance

A

ground glass

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35
Q

In BPD, arterial blood gas tests show low ____ levels and high ____ levels

A

oxygen, carbon dioxide

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36
Q

In BPD, wet or crackling sounds are heard on ____ of the lungs

A

auscultation

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37
Q

BPD is caused by an insult to the neonate’s ___

A

lungs

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38
Q

BPD is often a sequela to which 4 disorders?

A
  1. IRDS2. lung infections3. pneumonia4. extreme prematurity
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39
Q

What is the goal of treatment for BPD?

A

replace damaged alveoli

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40
Q

In BPD, supplemental oxygen O2 saturation must be at __% or greater

A

90

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41
Q

What family of medicine is used to treat BPD

A

diuretics

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42
Q

Diuretics reduce ____ HTN, ____ heart failure, and fluid ____ in the lungs

A

pulmonary, right sided heart failure, fluid accumulation

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43
Q

Abnormal growth of the blood vessels in the retinas of infant eyes

A

retinopathy of prematurity (ROP)

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44
Q

ROP usually occurs in premature infants because retinal blood vessels don’t develop until the __th week of gestation

A

28th week

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45
Q

Retinopathy of prematurity or ROP is also called ____

A

retrolental fibroplasia

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46
Q

ROP can be caused by which four things?

A
  1. incomplete vascularization in premature infants2. high supplemental oxygen concentrations3. drugs: surfactant and indomethacin4. intense artificial lighting-
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47
Q

T or F. Mild forms of ROP resolve without treatment

A

T

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48
Q

In serious cases, ROP is treated with laser treatment anterior to the vascular shunt, eliminating abnormal vessels before they cause _____

A

retinal detachment

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49
Q

Acute inflammatory process of the fragile intestinal tract in premature or sick newborns

A

necrotizing enterocolitis (NEC)

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50
Q

NEC is caused by _____ of the mucosal lining of the small and/or large intestine

A

ischemic necrosis

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51
Q

NEC is caused by breakdown in normal defense systems of the GI tract; ____ invades ____

A

normal flora, intestinal mucosa

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52
Q

Risk factors for NEC include:

A
  1. prematurity2. hypovolemia3. sepsis4. umbilical catheters5. exchange transfusions
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53
Q

When a neonate is diagnosed with NEC, he or she must be ordered ___ where fluids and antibiotics are administered intravenously

A

NPO

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54
Q

NEC is treated by surgical intervention with removal of ____

A

necrotic tissue

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55
Q

Two surgical procedures for NEC

A
  1. ileostomy2. colostomy
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56
Q

In NEC, a small tube is inserted into the stomach through the nose or mouth for ____

A

decompression

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57
Q

Condition of small stature and related incidence of interorbital distance, bulging forehead, depressed nasal bridge, malaligned teeth and short limbs

A

Robinow Syndrome

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58
Q

Bulging forehead

A

bossing

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59
Q

2 types of Robinow Syndrome

A
  1. dominant2. recessive
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60
Q

Robinow syndrome is an ____ syndrome

A

inherited generic

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61
Q

In dominant Robinow Syndrome, the gene is ____

A

not yet established

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62
Q

In recessive Robinow Syndrome, there is a mutation of a specific gene located in chromosome ___, which deals with ___ and ___ formation

A

9q22, bone and cartilage

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63
Q

There is no cure for Robinow Syndrome; treatment involves treating treatable conditions like ____, ____ and ____

A

dental abnormalities, cleft palate, and orthopedic conditions

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64
Q

Genetic syndrome where the individual has __ chromosomes instead of the usual __

A

47, 46

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65
Q

Mild to severe congenital mental retardation accompanied by characteristic facial features and distinctive physical abnormalities

A

Down Syndrome

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66
Q

What are the two types of tests to diagnose Down Syndrome in pregnancy?

A
  1. amniocentesis2. karyotype
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67
Q

There is an extra chromosome number __ in Down Syndrome

A

21

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68
Q

Down Syndrome occurs more often in infants born to women older than ___

A

35

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69
Q

The treatment plan for Down Syndrome is a _____ approach to maximize the development of motor and mental skills

A

multi-dimensional

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70
Q

Life expectancy for babies with Down Syndrome is improved through surgical correction of _____ and antibiotic therapy for _____

A

cardiac defects, pulmonary disease

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71
Q

Down Syndrome is associated with ____ defects

A

heart

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72
Q

Condition consisting of a group of disorders involving the brain and nervous system functions

A

Cerebral Palsy (CP)

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73
Q

3 types of cerebral palsy

A
  1. spastic2. athetoid3. ataxi
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74
Q
  • Type of cerebral palsy: hyperactive reflexes, rapid muscle contractions; 70% of cases
A

spastic

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75
Q
  • Type of cerebral palsy: involuntary muscle movements during stress, reduced muscle tone, difficulty with speech
A

athetoid

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76
Q
  • Type of cerebral palsy: involuntary movements, poor balance, and wide gait
A

ataxic

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77
Q

CP may be congenital or acquired, bilateral or unilateral in the form of a _____ that results from damage to the CNS

A

non-progressive paralysis

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78
Q

Most common crippler of children

A

cerebral palsy

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79
Q

Cerebral palsy is caused by inadequate blood or oxygen supply to brain during which 3 possible time frames?

A
  1. fetal development2. the birth process3. early childhood until 9 years of age
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80
Q

Cerebral palsy may also be caused by ___ or ___ during the first month of life

A

infection or head trauma

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81
Q

Cerebral palsy is more common in premature infants and male or female babies?

A

male babies

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82
Q

There is no cure for cerebral palsy, but what is the goal of treatment?

A

Minimize the handicap by providing therapeutic measures to help the child reach his or her potential

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83
Q

What are 5 other treatment options for cerebral palsy?

A
  1. physical therapy2. speech therapy3. special education4. orthopedic intervention5. anticonvulsants for children with seizures
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84
Q

Progressive degeneration and weakening of the skeletal muscles where muscle fibres are abnormally vulnerable to injury

A

muscular dystrophy (MD)

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85
Q

MD first affects the muscles of which 4 areas?

A
  1. shoulders2. hips3. thighs4. calves
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86
Q

Later forms of MD involve all the muscles causing ____

A

immobility

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87
Q

MD is associated with what 4 conditions?

A
  1. mental impairment2. spinal deformities3. contractures4. serious pulmonary infections
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88
Q

How many types of muscular dystrophy are there?

A

several, but most are rare

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89
Q

The most common type of muscular dystrophy is ____

A

Duchenne Muscular Dystrophy

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90
Q

What are the 2 tests used to diagnose muscular dystrophy?

A
  1. muscle biopsy2. electromyography (EMG)
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91
Q

MD can certainly be a genetic defect, but is caused by the absence of ____, a protein involved in maintaining the integrity of muscle

A

dystrophin

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92
Q

Muscular dystrophy affects only ____ and is inherited through female carriers

A

males

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93
Q

1/3 to 1/2 of muscular dystrophy cases are caused by a ____ and is not associated with family history

A

newly acquired mutation

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94
Q

T or F. There is no cure for MD

A

T

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95
Q

Corticosteroids slow ____ in MD

A

muscle degeneration

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96
Q
  • 3 types of spina bifida
A
  1. spina bidifa occulta2. meningocele3. myelomeningocele
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97
Q

Spina bifida: posterior arches of the vertebrae (usually in the lumbosacral area) fail to fuse but there is no herniation of meninges or spinal cord

A

spina bifida occulta

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98
Q

Spina bifida: no spinal cord or spinal nerve involvement; usually asymptomatic

A

spina bifida occulta

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99
Q

Spina bifida occulta is associated with exposure to ____ during ____ life

A

ionizing radiation, early uterine

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100
Q

Spina bifida occulta may also be caused by metabolic imbalances where there are reduced levels of ___ and ___ consumed during pregnancy

A

Vitamin A and folic acid

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101
Q

What intervention is needed for spina bifida occulta?

A

There is no intervention needed

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102
Q

Treatment for spina bifida occulta depends on the degree of _____

A

neurologic involvement

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103
Q

Spina bifida: posterior portion of the neural tube fails to close in the early stages of fetal development

A

meningocele

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104
Q

Spina bifida: meninges protrude through an opening in the spinal form, forming a sac that becomes filled with cerebrospinal fluid

A

CSF

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105
Q

T or F. Nerves are involved in meningocele.

A

False

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106
Q

In meningocele, the sac formed over the defect may ___ because the skin over the area is usually fragile

A

rupture

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107
Q

Meningocele is caused by which 3 things?

A
  1. genetic factors2. environmental factors3. metabolic imbalances: lack of Vit A and folic acid consumed in pregnancy
108
Q

Meningocele requires ____ to correct the defect in the first 24 to 48 hours of life

A

surgical intervention

109
Q

Spina bifida: most severe form also called Spina Bifida Cystica

A

myelomeningocele

110
Q

Spina bifida: protrusion of a portion of the spinal cord and the meninges through a defect in the spinal column, usually in the lumbar region

A

myelomeningocele

111
Q

Infants with myelomeningocele may have what 3 complications?

A
  1. musculoskeletal malformation2. immobile joints3. paralysis of the lower extremities
112
Q

T or F. In myelomeningocele, nerve damage is irreversible

A

T

113
Q

4 conditions associated with myelomeningocele

A
  1. hydrocephalus2. lack of control over bowel and bladder movements3. inability to walk4. death before 2 years of age
114
Q

Myelomeningocele is caused by ____ factors

A

genetic

115
Q

Myelomeningocele is associated with exposure to ____

A

Agent Orange

116
Q

Myelomeningocele requires surgical interventions with the first __ hours of life to prevent further deterioration of involved ____, infection and rupture of the ____

A

24 hours, nerves, herniation

117
Q

Abnormal enlargement of the head due to increased cerebrospinal fluid or blocked circulation of cerebrospinal fluid

A

hydrocephalus

118
Q

There is increased ____ in hydrocephalus

A

increased intracranial pressure

119
Q

Left untreated, hydrocephalus causes _____ and eventually death

A

mental retardation

120
Q

2 types of hydrocephalus

A
  1. obstructive2. communication
121
Q
  • Type of hydrocephalus: impairment of the circulation of CSF in the ventricular circulation
A

obstructive

122
Q
  • Type of hydrocephalus: impairment of the flow of CSF in the subarachnoid space
A

communicating

123
Q

In hydrocephalus, a large amount of ___ accumulates in the skull

A

CSF

124
Q

Obstructive hydrocephalus is due to a ___ within the system or a congenital ___

A

lesion, structural defect

125
Q

Communicating hydrocephalus is due to the prevention of cerbrospinal fluid reaching the area where it normally would be reabsorbed by the ____

A

arachnoid billi

126
Q

Hydrocephalus may result in these 4 conditions

A
  1. intracranial hemorrhage2. blood clots3. prematurity4. meningitis
127
Q

Hydrocephalus requires surgical intervention where a shunt is placed in the ____ or ____ spaces to drain excessive cerebrospinal fluid

A

ventricular or subarachnoid spaces

128
Q

_____ help to shunt excessive CSF away from the ____ to maintain normal pressure

A

one-way valves, cerebrospinal canal

129
Q

The most severe form of neural tube defect that occurs early in gestation

A

anencephaly

130
Q

In anencephaly, the fetus or neonate has no ____ and little ____

A

cranial vault, cerebral tissue

131
Q

Most infants with anencephaly die before ____ or during the ___

A

birth; birth process

132
Q

Newborns with anencephaly may survive a few hours or days because they have several other _____ incompatible with life

A

neural tube abnormalities

133
Q

More ___ are affected than ___ in anencephaly

A

females; males

134
Q

Anencephaly is caused by failure of the neural tube at the ____ to ____ completely during the 2nd or 3rd week of prenatal development

A

cephalic (cranial end), close

135
Q

Anencephaly has a familial tendency but is also associated with the mother’s ___ and ___

A

diet; vitamin intake

136
Q

Is there treatment for anencephaly?

A

No

137
Q

*4 Acyanotic Heart Defects

A
  1. ventricular septal defect (VSD)2. patent ductus arteriosus (PDA)3. coarctation of the aorta 4. atrial septal defect (ASD)
138
Q

*2 Cyanotic Heart Defects

A
  1. tetralogy of fallot2. transposition of the great arteries
139
Q

The most common congenital cardiac disorder

A

ventricular septal defect (VSD)

140
Q

In ventricular septal defect, there is an abnormal opening between the right and left ____

A

ventricles

141
Q

In VSD, blood is shunted from the left side to the right side of the heart due to higher ____ in the ____

A

pressure in the left ventricle

142
Q

VSD murmur sounds ___ and ___

A

harsh and holosystolic

143
Q

In patent ductus arteriosus (PDA), the ___ fails to functionally close

A

ductus

144
Q

In normal fetal circulation, the patent ductus ____, shunting the circulation from the lungs and instead directs blood from the pulmonary tract to the aorta

A

short-circuits

145
Q

In PDA, the circulation of _____ is compromised because the abnormal opening is a shunt allowing oxygenated blood to _____ through the lungs

A

oxygen, recirculates

146
Q

PDA murmur sounds like ____ and there is a ____ upon palpitation

A

machinery; thrill

147
Q

In coarctation of the aorta, the defect is characterized by a narrowed _____

A

aortic lumen

148
Q

The narrowed aortic lumen in coarctation of the aorta causes partial obstruction of the flow of blood through the ____

A

aorta

149
Q

In coarctation of the aorta, there is increased _____ pressure and workload

A

left ventricular

150
Q

There is also decreased _____ distal to the _____ in coarctation of the aorta

A

blood pressure; narrowing

151
Q

In coarctation of the aorta, there are signs of ____ ventricular failure with pulmonary ____

A

left ventricular failure; edema

152
Q

In coarctation of the area, systemic blood pressure is _____ when measured in the arms, but ____ in the lower extremeties

A

elevated; decreased

153
Q

Abnormal opening between the right and left atria

A

atrial septal defect (ASD)

154
Q

In ASD, blood generally shunts from ___ to ____ in all atrial septal defects

A

left to right

155
Q

In ASD, a classic _____ murmur can be heard

A

systolic cardiac

156
Q

The most common cyanotic cardiac defect

A

tetralogy of fallot

157
Q

In tetralogy of fallot, ____ blood enters the aorta, causing ____

A

deoxygenated; hypoxia

158
Q

Tetralogy of fallot is a combination of these four congenital heart defects

A
  1. ventricular septal defect2. pulmonary stenosis3. dextroposition4. right ventricular hypertrophy
159
Q

Fallot defect: abnormal opening in the ventricular septum

A

ventricular septal defect

160
Q

Fallot defect: tightening of the pulmonary valve or vessel

A

pulmonary stenosis

161
Q

Fallot defect: displacement to the right of the aorta which overrides the ventricular septal defect

A

dextroposition

162
Q

Fallot defect: increased pressure in the ventricle

A

right ventricular hypertrophy

163
Q

The aorta and the pulmonary artery are reversed

A

transposition of the great arteries

164
Q

In transposition of the great arteries, the ___ originates from the right ventricle and the ____ originates from the left ventricle

A

aorta; pulmonary artery

165
Q

In transposition of the great arteries, there are two _____ circulatory systems

A

closed-loop circulatory systems

166
Q

In transposition of the great arteries there is one closed-loop circulatory system between the ___ and ___

A

heart and lungs

167
Q

In transposition of the great arteries there is another closed-loop circulatory system between the ___ and ____

A

heart and systemic circulation

168
Q

Transposition of the great arteries requires immediate ____

A

surgical intervention

169
Q

An obvious, non-traumatic deformity of a newborn’s foot

A

clubfoot

170
Q

In clubfoot, the ___ half of the foot is ___ and ___

A

anterior; adducted; inverted

171
Q

What classifies a true clubfoot?

A

cannot be manipulated to the proper position

172
Q

Clubfoot is also called _____

A

talipes equinovarus

173
Q

Clubfoot can be caused by the ____ position

A

fetal

174
Q

Clubfoot can be caused by genetic factors; abnormal development of the ____ during the ____ stage

A

germ plasma; embryonic stage

175
Q

Treatment of clubfoot must start early in the ___ period

A

neonatal

176
Q

3 treatment options for clubfoot

A
  1. cast2. splints3. surgerry if 1 and 2 are unsuccessful
177
Q

An abnormal development of the hip joint

A

development dysplasia of the hip (DDH)

178
Q

In DDH, the abnormality ranges from an unstable joint to dislocation of the ____ from the ____

A

femoral head; acetabulum

179
Q

Developmental dysplasia of the hip was previously called ____

A

congenital hip dysplasia (CHD)

180
Q

DDH is caused by the softening of the ____ caused by the maternal hormone ____

A

ligaments; relaxin

181
Q

DDH may also be caused by ___ presentation at birth

A

breech

182
Q

DDH is more common in ___ infants

A

female

183
Q

DDH is treated by returning the ____ to the proper position in the ____

A

femoral head; acetabulum

184
Q

3 treatment options for DDH

A
  1. legs held by a Pavlik harness2. splint 3. cast
185
Q

In DDH, a shortening of the ___ is present when the knees and hips are flexed at ___ angles

A

femur; right

186
Q

Congenital birth defect consisting of one or more clefts in the upper lip

A

cleft lip

187
Q

Congenital birth defect in which there is a hole in the middle of the roof of the mouth

A

cleft palate

188
Q

The main problem with cleft lip/palate is the infant’s ____ and difficulty ____

A

appearance; feeding

189
Q

Cleft lip/palate is caused by failure in the ____ of a fetus

A

embryonic development

190
Q

Cleft lip/palate is a ____ genetic disorder

A

multifactorial

191
Q

3 treatment options for cleft lip/palate

A
  1. surgical repair2. special feeding devices3. speech therapy
192
Q

Failure of one or both of the testicles to descend from the abdominal cavity into the scrotum

A

cryptorchidism

193
Q

T or F. Cryptorchidism is only bilateral

A

F; may be uni- or bilateral

194
Q

Cryptorchidism is caused by ___ and is more common in premature infants

A

hormones

195
Q

In cryptorchidism, testes often descend spontaneously during the ___ year

A

1st

196
Q

If spontaneous descending doesn’t happen by age __, the undescended testes are placed into the scrotum by surgical manipulation

A

4

197
Q

The surgical manipulation used to treat cryptorchidism

A

orchiopexy

198
Q

Cryptorchidism is also treated with ______

A

hormonal drug therapy

199
Q

Drugs used in hormonal drug therapy (cryptorchidism)

A

B-HCG; testosterone

200
Q

Untreated cryptorchidism may lead to ___ and an increased risk in ___ cancer

A

virility; testiscular cancer

201
Q
  • Highly malignant neoplasm (______) of the kidney affecting children younger than 10
A

Wilm’s tumor; adenosarcoma

202
Q

Wilm’s tumor is also called ____

A

nephroblastoma

203
Q

The most comm kidney tumor of childhood and the fourth most common childhood cancer

A

Wilm’s tumor

204
Q

Wilm’s tumor is associated with _____ or absence of the iris

A

aniridia

205
Q

Wilm’s tumor is also associated with ____ anomalies like cryptorchidism and ambiguous ____

A

genitourinary; genitalia

206
Q

Most Wilm’s tumors are unilateral; __% are bilateral or multi-centric

A

10%

207
Q

Wilm’s tumor is caused by abnormal ____ tissue left behind during early embryonic life

A

fetal kidney tissue

208
Q

When does the abnormal tissue in Wilm’s tumor begin unrestrained cancerous growth?

A

after the child is born

209
Q

___% of Wilm’s tumor cases are hereditary

A

20%

210
Q

T or F. There is no method to identify gene carriers for WIlm’s tumor.

A

T

211
Q

2 treatment options for Wilm’s tumor

A
  1. surgical removal of the tumor and accessible metastatic sites2. chemotherapy with or without radiation therapy
212
Q

Stenosis of the opening of the foreskin in the male leading to an inability to retract the foreskin

A

phimosis

213
Q

Phimosis causes difficult ____ and accumulation of ____

A

urination; secretions

214
Q

T or F. Phimosis is always congenital

A

F. Phimosis may be congenital or acquired

215
Q

T or F. The cause of phimosis is unknown

A

T

216
Q

3 treatment options for phimosis

A
  1. circumcision2. gentle washing3. topical steroid cream
217
Q

Gastric obstruction associated with narrowing of the pyloric sphincter

A

congenital pyloric stenosis

218
Q

The pyloric sphincter is at the ___ of the stomach

A

exit

219
Q

Congenital pyloric stenosis is also called ____

A

congenital hypertrophic pyloric stenosis

220
Q

A symptom of congenital pyloric stenosis is episodes of ____ after feedings

A

projectile vomiting

221
Q

Congenital pyloric stenosis occurs ___ times more often in males than in female infants

A

4

222
Q

When congenital pyloric stenosis is left untreated, the infant becomes ___ and experiences ___ imbalances

A

dehydrated; electrolyte

223
Q

What is the surgical intervention used to treat congenital pyloric stenosis where the constricted pylorus is incised and sutured?

A

pyloromyotomy

224
Q

Impairment of intestinal motility that causes obstruction of the distal colon

A

Hirschsprung’s disease

225
Q

*Hirschsprung disease see pp 81 for symptoms in children of different ages

A

-

226
Q

Hirschsprung’s disease is also called ____

A

congenital aganglionic megacolon

227
Q

In Hirschsprung’s Disease, there is an abnormal ___ of the intrinsic musculature of the bowel wall resulting in lack of ___ in the affected portion of the colon and succeeding backup of fecal material

A

innervation; peristalsis

228
Q

In Hirschsprung’s disease, ____ ____ ____ cells are absent in a segment of the colon, often the rectosigmoid area

A

parasympathetic nerve ganglion

229
Q

To treat Hirschsprung disease, the affected bowel is ___ and the normal colon is joined to the ____

A

excised; anus

230
Q

Surgical intervention for Hirschsprung disease

A

temporary colostomy

231
Q

How long does the temporary colostomy last to treat Hirschsprung disease

A

6 months to 1 year

232
Q

Hirschsprung disease is treated with a temporary colostomy proximal to the ___ section of the colon

A

aganglionic

233
Q

Cystic fibrosis is a chronic dysfunction of this gene that affects multiple body systems

A

cystic fibrosis transmembrane conductance regulator (CFTR)

234
Q

Cystic fibrosis primarily attacks the ___ and the ___ system but has many clinical manifestations

A

lungs; digestive system

235
Q

The most common fatal genetic disease

A

cystic fibrosis

236
Q

Cystic fibrosis is an inherited disorder transmitted as an ____ recessive trait

A

autosomal

237
Q

Cystic fibrosis is usually fatal but ___ may increase life expectancy

A

early diagnosis

238
Q

Vitamins taken to manage cystic fibrosis

A

Vitamins A, D, E, and K

239
Q

Other treatments for cystic fibrosis

A
  1. diets2. chest physiotherapy3. pancreatic enzyme supplementation4. broad spectrum antibiotics5. insulin for CF-associated diabetes6. lung transplantation
240
Q

Inborn error in the metabolism of amino acids causing brain damage and mental retardation when not corrected

A

phenylketonuria (PKU)

241
Q
  • Inherited autosomal recessive trait causing defective ___ in ___
A

enzymatic conversion; protein metabolism

242
Q

In phenylketonuria, the enzyme needed to change the amino acid ____ in the body into ___ is lacking

A

phenylalanine; tyrosine

243
Q

Phenylketonuria results in the accumulation of phenylalanine in the __ and ___ which is toxic to the brain

A

blood and urine

244
Q

Phenylketonuria is treated with a ____ diet to allow normal brain development

A

phenylalanine-free diet

245
Q

How long must a protein-restricted diet be kept up to manage phenylketonuria?

A

for the rest of their lives

246
Q

To manage phenylketonuria, elimination of ___, ____, ___ and ____ products is required

A

meat, cheese, nuts, dairy

247
Q

Klinefelter’s Syndrome is male hypogonadism in males after puberty with at least two __ chromosomes and one or more __ chromosomes

A

X; Y

248
Q

Klinefelter’s Syndrome is also called

A

XXY condition

249
Q

Syndrome where there is abnormal development of the testes and reduced levels of testosterone

A

Klinefelter’s syndrome

250
Q

Klinefelter’s Syndrome is associated with ____ resulting from ____

A

infertility; azoospermia

251
Q

What test is used to confirm Klinefelter’s Syndrome and differentiates between the mosaic and true form of Klinefelter’s

A

chromosomal smear analyses

252
Q

In Klinefelter’s, there is presence of at least two X chromosomes, typically a ___ pattern

A

47,XXY

253
Q

T or F. The extra X chromosome in Klinefelter’s may only be of maternal origin

A

F; maternal or paternal origin

254
Q

Klinefelter’s is not inherited but results from a _____ during gamete formation

A

nondisjunction

255
Q

Klinefelter’s is treated through ____ with ____ by injection during ____

A

long-term hormone replacement; testosterone; puberty

256
Q

T or F. Ferility can be restored in Klinefelter’s with proper treatment

A

F.

257
Q

Chromosomal disease occuring in females with a single sex chromosome

A

Turner’s Syndrome

258
Q

Chromosomal pattern for Turner’s Syndrome instead of the normal 46,XX pattern

A

45,XO

259
Q

Turner’s Syndrome is the most common disorder of ____ in females

A

gonadal dysgenesis

260
Q

Examples of defects and diseases associated with Turner’s Syndrome

A

low-set ears, swollen hands and feet, webbing of the neck, lack of sexual maturation, amenorrhea, sterility, dwarfism, cardiac and kidney defects; delayed speech and ambulation

261
Q

Turner’s Syndrome is caused by the loss of the second __ chromosome caused by ____ during gamete formation

A

X; nondisjunction

262
Q

Symptoms of Turner’s Syndrome is reduced by ___ and ____ therapy

A

estrogen; growth hormone

263
Q

Test for cystic fibrosis

A

sweat tests

264
Q

Test for phenylketonuria

A

Guthrie

265
Q

Test for diphtheria

A

Schick

266
Q

Test for erythroblastosis fetalis

A

Coombs