Outcome 6 Neonatology Flashcards
1
Q
5 areas of Apgar score
A
- appearance: color
- pulse: heart rate
- grimace: response to stimuli
- activity: muscle tone
- respiration: respiration rate
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
3
Q
The Moro Reflex is also called the _____
A
startle reflex
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
5
Q
The Dance Reflex is also called the _____.
A
stepping reflex
6
Q
The Sucking Reflex causes a newborn to ___ anything that touches the lips.
A
suck
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
8
Q
The Palmar Grasp Reflex is flexion of the fingers caused by stimulation of the ______.
A
palm of the hand.
9
Q
The Plantar Grasp Reflex is flexion of the toes when the ____ is gently stroked.
A
sole of the foot
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
11
Q
The Crawling Reflex is also called the _____.
A
symmetric tonic neck reflex
12
Q
The Tonic Neck Reflex is also called the _____.
A
asymmetric tonic neck reflex
13
Q
This reflex prevents the infant from rolling over until adequate ____ and ____ occurs.
A
neurologic and motor development
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
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
16
Q
The Parachute Reaction is a variation of the ____, and persists for ___.
A
Moro reflex, life
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
18
Q
Birth before ___ weeks is considered premature
A
37
19
Q
Infant Respiratory Distress Syndrome (IRDS) is also called _____
A
Hyaline Membrane Disease
20
Q
Acute hypoxemia caused by infiltrates within the alveoli
A
IRDS
21
Q
Inability of lungs to expand; there is inadequate surface area for proper gas exchange
A
IRDS
22
Q
Tests involved in IRDS
A
- blood gas studies
2. radiographic chest films
23
Q
In IRDS, blood gas studies show reduced ____ and ineffective ____
A
oxygen tension; gas exchange
24
Q
In IRDS, radiographic chest films show presence of ____ or ____
A
infiltrate or hyaline membrane
25
IRDS: acute ____ caused by _____ within the ____
hypoxemia, infiltrates, alveoli
26
IRDS: inability of ___ to expand; inadequate ____ for proper ___
lungs, surface area, gas exchange
27
In IRDS, lungs lack ____ needed to allow alveoli to expand
surfactant
28
Surfactant is normally produced in late ____
fetal life
29
In IRDS, treatment should begin within the first __ hours of life
48
30
3 options for IRDS treatment:
1. carefully titrated supplemental oxygen through mechanical ventilation
2. positive end-expiratory pressure (PEEP)
3. drug therapy
31
In IRDS drug therapy, aerosol infusion of an exogenous surfactant such as ____ or ___ into the pulmonary tree by endotracheal tube
beractant or poractant
32
Serious chronic lung disease where lungs are stiff, obstructed and hard to ventilate
bronchopulmonary dysplasia (BPD)
33
What are the two tests to diagnose BPD?
1. radiographs
| 2. arterial blood gases
34
In BPD, radiographs show alveolar damage with a ____ appearance
ground glass
35
In BPD, arterial blood gas tests show low ____ levels and high ____ levels
oxygen, carbon dioxide
36
In BPD, wet or crackling sounds are heard on ____ of the lungs
auscultation
37
BPD is caused by an insult to the neonate's ___
lungs
38
BPD is often a sequela to which 4 disorders?
1. IRDS
2. lung infections
3. pneumonia
4. extreme prematurity
39
What is the goal of treatment for BPD?
replace damaged alveoli
40
In BPD, supplemental oxygen O2 saturation must be at __% or greater
90
41
What family of medicine is used to treat BPD
diuretics
42
Diuretics reduce ____ HTN, ____ heart failure, and fluid ____ in the lungs
pulmonary, right sided heart failure, fluid accumulation
43
Abnormal growth of the blood vessels in the retinas of infant eyes
retinopathy of prematurity (ROP)
44
ROP usually occurs in premature infants because retinal blood vessels don't develop until the __th week of gestation
28th week
45
Retinopathy of prematurity or ROP is also called ____
retrolental fibroplasia
46
ROP can be caused by which four things?
1. incomplete vascularization in premature infants
2. high supplemental oxygen concentrations
3. drugs: surfactant and indomethacin
4. intense artificial lighting-
47
T or F. Mild forms of ROP resolve without treatment
T
48
In serious cases, ROP is treated with laser treatment anterior to the vascular shunt, eliminating abnormal vessels before they cause _____
retinal detachment
49
Acute inflammatory process of the fragile intestinal tract in premature or sick newborns
necrotizing enterocolitis (NEC)
50
NEC is caused by _____ of the mucosal lining of the small and/or large intestine
ischemic necrosis
51
NEC is caused by breakdown in normal defense systems of the GI tract; ____ invades ____
normal flora, intestinal mucosa
52
Risk factors for NEC include:
1. prematurity
2. hypovolemia
3. sepsis
4. umbilical catheters
5. exchange transfusions
53
When a neonate is diagnosed with NEC, he or she must be ordered ___ where fluids and antibiotics are administered intravenously
NPO
54
NEC is treated by surgical intervention with removal of ____
necrotic tissue
55
Two surgical procedures for NEC
1. ileostomy
| 2. colostomy
56
In NEC, a small tube is inserted into the stomach through the nose or mouth for ____
decompression
57
Condition of small stature and related incidence of interorbital distance, bulging forehead, depressed nasal bridge, malaligned teeth and short limbs
Robinow Syndrome
58
Bulging forehead
bossing
59
2 types of Robinow Syndrome
1. dominant
| 2. recessive
60
Robinow syndrome is an ____ syndrome
inherited generic
61
In dominant Robinow Syndrome, the gene is ____
not yet established
62
In recessive Robinow Syndrome, there is a mutation of a specific gene located in chromosome ___, which deals with ___ and ___ formation
9q22, bone and cartilage
63
There is no cure for Robinow Syndrome; treatment involves treating treatable conditions like ____, ____ and ____
dental abnormalities, cleft palate, and orthopedic conditions
64
Genetic syndrome where the individual has __ chromosomes instead of the usual __
47, 46
65
Mild to severe congenital mental retardation accompanied by characteristic facial features and distinctive physical abnormalities
Down Syndrome
66
What are the two types of tests to diagnose Down Syndrome in pregnancy?
1. amniocentesis
| 2. karyotype
67
There is an extra chromosome number __ in Down Syndrome
21
68
Down Syndrome occurs more often in infants born to women older than ___
35
69
The treatment plan for Down Syndrome is a _____ approach to maximize the development of motor and mental skills
multi-dimensional
70
Life expectancy for babies with Down Syndrome is improved through surgical correction of _____ and antibiotic therapy for _____
cardiac defects, pulmonary disease
71
Down Syndrome is associated with ____ defects
heart
72
Condition consisting of a group of disorders involving the brain and nervous system functions
Cerebral Palsy (CP)
73
3 types of cerebral palsy
1. spastic
2. athetoid
3. ataxi
74
* Type of cerebral palsy: hyperactive reflexes, rapid muscle contractions; 70% of cases
spastic
75
* Type of cerebral palsy: involuntary muscle movements during stress, reduced muscle tone, difficulty with speech
athetoid
76
* Type of cerebral palsy: involuntary movements, poor balance, and wide gait
ataxic
77
CP may be congenital or acquired, bilateral or unilateral in the form of a _____ that results from damage to the CNS
non-progressive paralysis
78
Most common crippler of children
cerebral palsy
79
Cerebral palsy is caused by inadequate blood or oxygen supply to brain during which 3 possible time frames?
1. fetal development
2. the birth process
3. early childhood until 9 years of age
80
Cerebral palsy may also be caused by ___ or ___ during the first month of life
infection or head trauma
81
Cerebral palsy is more common in premature infants and male or female babies?
male babies
82
There is no cure for cerebral palsy, but what is the goal of treatment?
Minimize the handicap by providing therapeutic measures to help the child reach his or her potential
83
What are 5 other treatment options for cerebral palsy?
1. physical therapy
2. speech therapy
3. special education
4. orthopedic intervention
5. anticonvulsants for children with seizures
84
Progressive degeneration and weakening of the skeletal muscles where muscle fibres are abnormally vulnerable to injury
muscular dystrophy (MD)
85
MD first affects the muscles of which 4 areas?
1. shoulders
2. hips
3. thighs
4. calves
86
Later forms of MD involve all the muscles causing ____
immobility
87
MD is associated with what 4 conditions?
1. mental impairment
2. spinal deformities
3. contractures
4. serious pulmonary infections
88
How many types of muscular dystrophy are there?
several, but most are rare
89
The most common type of muscular dystrophy is ____
Duchenne Muscular Dystrophy
90
What are the 2 tests used to diagnose muscular dystrophy?
1. muscle biopsy
| 2. electromyography (EMG)
91
MD can certainly be a genetic defect, but is caused by the absence of ____, a protein involved in maintaining the integrity of muscle
dystrophin
92
Muscular dystrophy affects only ____ and is inherited through female carriers
males
93
1/3 to 1/2 of muscular dystrophy cases are caused by a ____ and is not associated with family history
newly acquired mutation
94
T or F. There is no cure for MD
T
95
Corticosteroids slow ____ in MD
muscle degeneration
96
* 3 types of spina bifida
1. spina bidifa occulta
2. meningocele
3. myelomeningocele
97
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
spina bifida occulta
98
Spina bifida: no spinal cord or spinal nerve involvement; usually asymptomatic
spina bifida occulta
99
Spina bifida occulta is associated with exposure to ____ during ____ life
ionizing radiation, early uterine
100
Spina bifida occulta may also be caused by metabolic imbalances where there are reduced levels of ___ and ___ consumed during pregnancy
Vitamin A and folic acid
101
What intervention is needed for spina bifida occulta?
There is no intervention needed
102
Treatment for spina bifida occulta depends on the degree of _____
neurologic involvement
103
Spina bifida: posterior portion of the neural tube fails to close in the early stages of fetal development
meningocele
104
Spina bifida: meninges protrude through an opening in the spinal form, forming a sac that becomes filled with cerebrospinal fluid
CSF
105
T or F. Nerves are involved in meningocele.
False
106
In meningocele, the sac formed over the defect may ___ because the skin over the area is usually fragile
rupture
107
Meningocele is caused by which 3 things?
1. genetic factors
2. environmental factors
3. metabolic imbalances: lack of Vit A and folic acid consumed in pregnancy
108
Meningocele requires ____ to correct the defect in the first 24 to 48 hours of life
surgical intervention
109
Spina bifida: most severe form also called Spina Bifida Cystica
myelomeningocele
110
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
myelomeningocele
111
Infants with myelomeningocele may have what 3 complications?
1. musculoskeletal malformation
2. immobile joints
3. paralysis of the lower extremities
112
T or F. In myelomeningocele, nerve damage is irreversible
T
113
4 conditions associated with myelomeningocele
1. hydrocephalus
2. lack of control over bowel and bladder movements
3. inability to walk
4. death before 2 years of age
114
Myelomeningocele is caused by ____ factors
genetic
115
Myelomeningocele is associated with exposure to ____
Agent Orange
116
Myelomeningocele requires surgical interventions with the first __ hours of life to prevent further deterioration of involved ____, infection and rupture of the ____
24 hours, nerves, herniation
117
Abnormal enlargement of the head due to increased cerebrospinal fluid or blocked circulation of cerebrospinal fluid
hydrocephalus
118
There is increased ____ in hydrocephalus
increased intracranial pressure
119
Left untreated, hydrocephalus causes _____ and eventually death
mental retardation
120
2 types of hydrocephalus
1. obstructive
| 2. communication
121
* Type of hydrocephalus: impairment of the circulation of CSF in the ventricular circulation
obstructive
122
* Type of hydrocephalus: impairment of the flow of CSF in the subarachnoid space
communicating
123
In hydrocephalus, a large amount of ___ accumulates in the skull
CSF
124
Obstructive hydrocephalus is due to a ___ within the system or a congenital ___
lesion, structural defect
125
Communicating hydrocephalus is due to the prevention of cerbrospinal fluid reaching the area where it normally would be reabsorbed by the ____
arachnoid billi
126
Hydrocephalus may result in these 4 conditions
1. intracranial hemorrhage
2. blood clots
3. prematurity
4. meningitis
127
Hydrocephalus requires surgical intervention where a shunt is placed in the ____ or ____ spaces to drain excessive cerebrospinal fluid
ventricular or subarachnoid spaces
128
_____ help to shunt excessive CSF away from the ____ to maintain normal pressure
one-way valves, cerebrospinal canal
129
The most severe form of neural tube defect that occurs early in gestation
anencephaly
130
In anencephaly, the fetus or neonate has no ____ and little ____
cranial vault, cerebral tissue
131
Most infants with anencephaly die before ____ or during the ___
birth; birth process
132
Newborns with anencephaly may survive a few hours or days because they have several other _____ incompatible with life
neural tube abnormalities
133
More ___ are affected than ___ in anencephaly
females; males
134
Anencephaly is caused by failure of the neural tube at the ____ to ____ completely during the 2nd or 3rd week of prenatal development
cephalic (cranial end), close
135
Anencephaly has a familial tendency but is also associated with the mother's ___ and ___
diet; vitamin intake
136
Is there treatment for anencephaly?
No
137
*4 Acyanotic Heart Defects
1. ventricular septal defect (VSD)
2. patent ductus arteriosus (PDA)
3. coarctation of the aorta
4. atrial septal defect (ASD)
138
*2 Cyanotic Heart Defects
1. tetralogy of fallot
| 2. transposition of the great arteries
139
The most common congenital cardiac disorder
ventricular septal defect (VSD)
140
In ventricular septal defect, there is an abnormal opening between the right and left ____
ventricles
141
In VSD, blood is shunted from the left side to the right side of the heart due to higher ____ in the ____
pressure in the left ventricle
142
VSD murmur sounds ___ and ___
harsh and holosystolic
143
In patent ductus arteriosus (PDA), the ___ fails to functionally close
ductus
144
In normal fetal circulation, the patent ductus ____, shunting the circulation from the lungs and instead directs blood from the pulmonary tract to the aorta
short-circuits
145
In PDA, the circulation of _____ is compromised because the abnormal opening is a shunt allowing oxygenated blood to _____ through the lungs
oxygen, recirculates
146
PDA murmur sounds like ____ and there is a ____ upon palpitation
machinery; thrill
147
In coarctation of the aorta, the defect is characterized by a narrowed _____
aortic lumen
148
The narrowed aortic lumen in coarctation of the aorta causes partial obstruction of the flow of blood through the ____
aorta
149
In coarctation of the aorta, there is increased _____ pressure and workload
left ventricular
150
There is also decreased _____ distal to the _____ in coarctation of the aorta
blood pressure; narrowing
151
In coarctation of the aorta, there are signs of ____ ventricular failure with pulmonary ____
left ventricular failure; edema
152
In coarctation of the area, systemic blood pressure is _____ when measured in the arms, but ____ in the lower extremeties
elevated; decreased
153
Abnormal opening between the right and left atria
atrial septal defect (ASD)
154
In ASD, blood generally shunts from ___ to ____ in all atrial septal defects
left to right
155
In ASD, a classic _____ murmur can be heard
systolic cardiac
156
The most common cyanotic cardiac defect
tetralogy of fallot
157
In tetralogy of fallot, ____ blood enters the aorta, causing ____
deoxygenated; hypoxia
158
Tetralogy of fallot is a combination of these four congenital heart defects
1. ventricular septal defect
2. pulmonary stenosis
3. dextroposition
4. right ventricular hypertrophy
159
Fallot defect: abnormal opening in the ventricular septum
ventricular septal defect
160
Fallot defect: tightening of the pulmonary valve or vessel
pulmonary stenosis
161
Fallot defect: displacement to the right of the aorta which overrides the ventricular septal defect
dextroposition
162
Fallot defect: increased pressure in the ventricle
right ventricular hypertrophy
163
The aorta and the pulmonary artery are reversed
transposition of the great arteries
164
In transposition of the great arteries, the ___ originates from the right ventricle and the ____ originates from the left ventricle
aorta; pulmonary artery
165
In transposition of the great arteries, there are two _____ circulatory systems
closed-loop circulatory systems
166
In transposition of the great arteries there is one closed-loop circulatory system between the ___ and ___
heart and lungs
167
In transposition of the great arteries there is another closed-loop circulatory system between the ___ and ____
heart and systemic circulation
168
Transposition of the great arteries requires immediate ____
surgical intervention
169
An obvious, non-traumatic deformity of a newborn's foot
clubfoot
170
In clubfoot, the ___ half of the foot is ___ and ___
anterior; adducted; inverted
171
What classifies a true clubfoot?
cannot be manipulated to the proper position
172
Clubfoot is also called _____
talipes equinovarus
173
Clubfoot can be caused by the ____ position
fetal
174
Clubfoot can be caused by genetic factors; abnormal development of the ____ during the ____ stage
germ plasma; embryonic stage
175
Treatment of clubfoot must start early in the ___ period
neonatal
176
3 treatment options for clubfoot
1. cast
2. splints
3. surgerry if 1 and 2 are unsuccessful
177
An abnormal development of the hip joint
development dysplasia of the hip (DDH)
178
In DDH, the abnormality ranges from an unstable joint to dislocation of the ____ from the ____
femoral head; acetabulum
179
Developmental dysplasia of the hip was previously called ____
congenital hip dysplasia (CHD)
180
DDH is caused by the softening of the ____ caused by the maternal hormone ____
ligaments; relaxin
181
DDH may also be caused by ___ presentation at birth
breech
182
DDH is more common in ___ infants
female
183
DDH is treated by returning the ____ to the proper position in the ____
femoral head; acetabulum
184
3 treatment options for DDH
1. legs held by a Pavlik harness
2. splint
3. cast
185
In DDH, a shortening of the ___ is present when the knees and hips are flexed at ___ angles
femur; right
186
Congenital birth defect consisting of one or more clefts in the upper lip
cleft lip
187
Congenital birth defect in which there is a hole in the middle of the roof of the mouth
cleft palate
188
The main problem with cleft lip/palate is the infant's ____ and difficulty ____
appearance; feeding
189
Cleft lip/palate is caused by failure in the ____ of a fetus
embryonic development
190
Cleft lip/palate is a ____ genetic disorder
multifactorial
191
3 treatment options for cleft lip/palate
1. surgical repair
2. special feeding devices
3. speech therapy
192
Failure of one or both of the testicles to descend from the abdominal cavity into the scrotum
cryptorchidism
193
T or F. Cryptorchidism is only bilateral
F; may be uni- or bilateral
194
Cryptorchidism is caused by ___ and is more common in premature infants
hormones
195
In cryptorchidism, testes often descend spontaneously during the ___ year
1st
196
If spontaneous descending doesn't happen by age __, the undescended testes are placed into the scrotum by surgical manipulation
4
197
The surgical manipulation used to treat cryptorchidism
orchiopexy
198
Cryptorchidism is also treated with ______
hormonal drug therapy
199
Drugs used in hormonal drug therapy (cryptorchidism)
B-HCG; testosterone
200
Untreated cryptorchidism may lead to ___ and an increased risk in ___ cancer
virility; testiscular cancer
201
* Highly malignant neoplasm (______) of the kidney affecting children younger than 10
Wilm's tumor; adenosarcoma
202
Wilm's tumor is also called ____
nephroblastoma
203
The most comm kidney tumor of childhood and the fourth most common childhood cancer
Wilm's tumor
204
Wilm's tumor is associated with _____ or absence of the iris
aniridia
205
Wilm's tumor is also associated with ____ anomalies like cryptorchidism and ambiguous ____
genitourinary; genitalia
206
Most Wilm's tumors are unilateral; __% are bilateral or multi-centric
10%
207
Wilm's tumor is caused by abnormal ____ tissue left behind during early embryonic life
fetal kidney tissue
208
When does the abnormal tissue in Wilm's tumor begin unrestrained cancerous growth?
after the child is born
209
___% of Wilm's tumor cases are hereditary
20%
210
T or F. There is no method to identify gene carriers for WIlm's tumor.
T
211
2 treatment options for Wilm's tumor
1. surgical removal of the tumor and accessible metastatic sites
2. chemotherapy with or without radiation therapy
212
Stenosis of the opening of the foreskin in the male leading to an inability to retract the foreskin
phimosis
213
Phimosis causes difficult ____ and accumulation of ____
urination; secretions
214
T or F. Phimosis is always congenital
F. Phimosis may be congenital or acquired
215
T or F. The cause of phimosis is unknown
T
216
3 treatment options for phimosis
1. circumcision
2. gentle washing
3. topical steroid cream
217
Gastric obstruction associated with narrowing of the pyloric sphincter
congenital pyloric stenosis
218
The pyloric sphincter is at the ___ of the stomach
exit
219
Congenital pyloric stenosis is also called ____
congenital hypertrophic pyloric stenosis
220
A symptom of congenital pyloric stenosis is episodes of ____ after feedings
projectile vomiting
221
Congenital pyloric stenosis occurs ___ times more often in males than in female infants
4
222
When congenital pyloric stenosis is left untreated, the infant becomes ___ and experiences ___ imbalances
dehydrated; electrolyte
223
What is the surgical intervention used to treat congenital pyloric stenosis where the constricted pylorus is incised and sutured?
pyloromyotomy
224
Impairment of intestinal motility that causes obstruction of the distal colon
Hirschsprung's disease
225
*Hirschsprung disease see pp 81 for symptoms in children of different ages
-
226
Hirschsprung's disease is also called ____
congenital aganglionic megacolon
227
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
innervation; peristalsis
228
In Hirschsprung's disease, ____ ____ ____ cells are absent in a segment of the colon, often the rectosigmoid area
parasympathetic nerve ganglion
229
To treat Hirschsprung disease, the affected bowel is ___ and the normal colon is joined to the ____
excised; anus
230
Surgical intervention for Hirschsprung disease
temporary colostomy
231
How long does the temporary colostomy last to treat Hirschsprung disease
6 months to 1 year
232
Hirschsprung disease is treated with a temporary colostomy proximal to the ___ section of the colon
aganglionic
233
Cystic fibrosis is a chronic dysfunction of this gene that affects multiple body systems
cystic fibrosis transmembrane conductance regulator (CFTR)
234
Cystic fibrosis primarily attacks the ___ and the ___ system but has many clinical manifestations
lungs; digestive system
235
The most common fatal genetic disease
cystic fibrosis
236
Cystic fibrosis is an inherited disorder transmitted as an ____ recessive trait
autosomal
237
Cystic fibrosis is usually fatal but ___ may increase life expectancy
early diagnosis
238
Vitamins taken to manage cystic fibrosis
Vitamins A, D, E, and K
239
Other treatments for cystic fibrosis
1. diets
2. chest physiotherapy
3. pancreatic enzyme supplementation
4. broad spectrum antibiotics
5. insulin for CF-associated diabetes
6. lung transplantation
240
Inborn error in the metabolism of amino acids causing brain damage and mental retardation when not corrected
phenylketonuria (PKU)
241
* Inherited autosomal recessive trait causing defective ___ in ___
enzymatic conversion; protein metabolism
242
In phenylketonuria, the enzyme needed to change the amino acid ____ in the body into ___ is lacking
phenylalanine; tyrosine
243
Phenylketonuria results in the accumulation of phenylalanine in the __ and ___ which is toxic to the brain
blood and urine
244
Phenylketonuria is treated with a ____ diet to allow normal brain development
phenylalanine-free diet
245
How long must a protein-restricted diet be kept up to manage phenylketonuria?
for the rest of their lives
246
To manage phenylketonuria, elimination of ___, ____, ___ and ____ products is required
meat, cheese, nuts, dairy
247
Klinefelter's Syndrome is male hypogonadism in males after puberty with at least two __ chromosomes and one or more __ chromosomes
X; Y
248
Klinefelter's Syndrome is also called
XXY condition
249
Syndrome where there is abnormal development of the testes and reduced levels of testosterone
Klinefelter's syndrome
250
Klinefelter's Syndrome is associated with ____ resulting from ____
infertility; azoospermia
251
What test is used to confirm Klinefelter's Syndrome and differentiates between the mosaic and true form of Klinefelter's
chromosomal smear analyses
252
In Klinefelter's, there is presence of at least two X chromosomes, typically a ___ pattern
47,XXY
253
T or F. The extra X chromosome in Klinefelter's may only be of maternal origin
F; maternal or paternal origin
254
Klinefelter's is not inherited but results from a _____ during gamete formation
nondisjunction
255
Klinefelter's is treated through ____ with ____ by injection during ____
long-term hormone replacement; testosterone; puberty
256
T or F. Ferility can be restored in Klinefelter's with proper treatment
F.
257
Chromosomal disease occuring in females with a single sex chromosome
Turner's Syndrome
258
Chromosomal pattern for Turner's Syndrome instead of the normal 46,XX pattern
45,XO
259
Turner's Syndrome is the most common disorder of ____ in females
gonadal dysgenesis
260
Examples of defects and diseases associated with Turner's Syndrome
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
Turner's Syndrome is caused by the loss of the second __ chromosome caused by ____ during gamete formation
X; nondisjunction
262
Symptoms of Turner's Syndrome is reduced by ___ and ____ therapy
estrogen; growth hormone
263
Test for cystic fibrosis
sweat tests
264
Test for phenylketonuria
Guthrie
265
Test for diphtheria
Schick
266
Test for erythroblastosis fetalis
Coombs
