Section 6 Continued Flashcards
(149 cards)
1
Q
Complex multigenic disorders
A
More than 2 altered genes
2
Q
Complex multigenic Disorders usually result of the sum of ___ and ___
A
Genetics
Environment
3
Q
Features of complex multigenic disorders
A
- Increase number of altered genes = increase risk
- Identical twins share risk
- Relatives have similar risk
- Expression in 1 child = increase risk in siblings
4
Q
Loss of genetic material is more
A
Severe
5
Q
Gain of genetic material is
A
Less severe
6
Q
Example of loss of genetic material
A
Monosomy
7
Q
Example of gain of genetic material
A
Trisomy
8
Q
Most ___ are spontaneous
A
Chromosomal disorders
9
Q
Down Syndrome
A
Trisomy 21
10
Q
Edwards Syndrome
A
Trisomy 18
11
Q
Patau Syndrome
A
Trisomy 13
12
Q
Cri du Chat
A
Fragmented 5th chromosome
13
Q
Freq. of Down syndrome
A
1 in700
14
Q
Freq. of Edwards Syndrome
A
1 in 8,000
15
Q
Freq. of patau syndrome
A
1 in 15,000
16
Q
Cri du chat freq.
A
1 in 50,000
17
Q
___ and ___ commonly affected in chromosomal disorders
A
Brain
Kidney
18
Q
MC chromosomal disorder
A
Trisomy 21
Down syndrome
19
Q
Largest risk for Down syndrome
A
Advanced maternal age
> 45 years
20
Q
People with trisomy 21 have ___ chromosomes
A
47
23 +24
21
Q
Down syndrome is commonly due to
A
Meiotic nondisjunction
22
Q
30% of people with Down syndrome have
A
Atlantoaxial instability
23
Q
Signs of Down syndrome
A
Cognitive impairment Flat facies Epicanthic folds Cardiac malformations Upslanted palpebral fissures Simian crease Shy demeanor
24
Q
Patients with Down syndrome are predisposed to
A
Leukemia
Lung infections
Alzheimer’s disease
25
Freq. of DiGeorge Syndrome
1 in 4,000
26
22q11.2 Deletion Syndromes
1. DiGeorge Syndrome
| 2. Velocardiofacial Syndrome
27
3 causes of Down syndrome
1. Meiotic nondisjunction (95%)
2. Robertsonian Translocation (4%)
3. Mosaicism (1%)
28
Most severe way to acquire Down syndrome
Meiotic nondisjunction
29
Signs of DiGeorge Syndrome
```
C- cardiac anomalies
A- abnormal facies
T- thymus hypoplasia
C- cleft palate
H- hypocalcemia (hypoparathyroidism)
```
30
Signs of Velocardiofacial syndrome
Pronounced cardiac and facial abnormalities
Mild immunodeficiency
31
2 allosomal Disorders
Klinefelter syndrome
| Turner syndrome
32
Sex chromosome disorders are
Less severe, more compatible with life
33
Lyonization
X- inactivation
Results in Barr body
34
Klinefelter syndrome MC on
47th chromosome, XXY
35
Klinefelter syndrome is a result of
Meiotic nondisjunction
36
Freq. of Klinefelter syndrome
1 in 1,000 males
37
MC cause of male hypogonadism and sterility
Klinefelter syndrome
38
Turner syndrome is MC from
Absence of X chromosome (45X)
39
Freq. of Turner syndrome
1 in 3000 females
40
Signs of Turner syndrome
1. Short stature
2. Amenorrhea (streak ovaries)
3. Neck webbing
4. Cubitus Valgus
5. Many moles
6. Heart malformations
7. Shield chest (wide set nipples)
8. Androgynous appearance
41
Turner syndrome can result from loss of
Short (p) arm on an X
42
Examples of single gene disorders with atypical inheritance
1. Triplet-repeat mutations
2. Mitochondrial gene mutations
3. Genomic imprinting
43
Fragile X syndrome example of
Triplet-repeat mutation
>200 CGGs
44
Gene affected in fragile X syndrome
FMR1
45
More repeats in fragile X syndrome means the condition is
More severe
46
Signs of fragile X syndrome
1. Microorchidism (90%)
2. Long face
3. Large mandible
4. Large/everted ears
5. Flat feet
6. Hypotonia
47
Fragile X is unique for 2 reasons
1. Genetic anticipation
| 2. Can affect females
48
Genetic anticipation
Condition worsens with each successive generation
49
Leber hereditary optic neuropathy example of
Mitochondrial gene mutations
50
Leber hereditary optic phosphorylation signs
Degeneration of retinal ganglia and CNII
Progressive and bilateral loss of central vision
51
Mitochondrial gene mutations follow a strict
Maternal inheritance
52
Angalman syndrome and Prader-Willi syndrome are examples of
Genomic imprinting
53
Angelman syndrome
Paternal imprinting and maternal deletion of 15q12
54
Signs of angleman syndrome
```
Mental retardation
Seizures
Ataxia
Happy puppet syndrome
Love water
```
55
Prader-Willi syndrome
Maternal imprinting and paternal deletion of 15q12
56
Signs of Prader-Willi syndrome
```
Hypotonia
Mental retardation
Obesity - hyperplasia
Short stature
Small hands/feet
Hypogonadism
```
57
Epigenetic silencing freq.
1 in 25,000
58
3% of neonates have
Congenital anomalies
59
2 types of perinatal infections
Transcervical
| Transplacental
60
Transcervical infections
MC bacteria
| Enter amniotic fluid
61
MC bacteria in transcervical infections
Neisseria gonorrhea
Chlamydia trachomatis
Candida albicans
62
Transplacental infections
Blood to baby
63
Causes of transplacental infections
```
T- toxoplasma gondii
O- other
R- rubella virus
C- CMV
H- HSV
```
64
2nd cause of neonatal mortality
Prematurity
65
Prematurity born at
<37 weeks
66
Respiratory distress syndrome has low
Surfactant
67
Prematurity and respiratory distress syndrome relationship
<28 wks= 60%
| >35 wks = 5%
68
Potential causes of respiratory distress syndrome
Maternal diabetes
C- section
Males
69
Treatment for respiratory distress syndrome
Steroids
Surfactant
Artificial ventilation
70
Respiratory distress syndrome can lead to
Atelectasis
| Tissue hypoxia
71
Pre-term
<37 wks
72
Early term
37-38 wks
73
Full term
39-40 wks
74
Late term
41st wk
75
Post-term
<42 weeks
76
Pediatric respiratory distress syndrome is ___, with __ absent
Non-inflammatory
Neutrophils
77
Necrotizing Enterocolitis (NEC) can result in ___ due to underdeveloped GI tract
GI necrosis and ulceration
78
Locations of NEC
Ileum
Cecum
Ascending colon
79
Risks for NEC
Premature
Enteral feeding
Very low birth weight (10%)
80
Histological evidence of RDS
Hyaline membranes
81
Abdomen is distended in NEC due to
Gas buildup
82
Bloody stools in NEC can indicate
Circulatory collapse
83
3rd MC cause of infantile death
SIDs
84
Age range of SIDS
90% <6 months
| MC 2-4 months
85
SIDS is
Idiopathic
86
Pneumatosis Intestinalis in NEC
Gas collections in abdomen due to infections
87
Triple risk model for SIDS
1. Vulnerable infant
2. Critical development time for homeostasis
3. Exogenous stressors
88
Vulnerable infant for SIDS
Male
Family history
Hypoplasia of arcuate nucleus
89
Critical time for homeostasis
1 month - 1 year
90
Other risks for SIDS
```
Prone sleeping (50% of risk)
Soft bedding
Bed co-sharing (<3 months)
Maternal smoking
URTI
Limited prenatal care
```
91
Causes of small for gestational age
1. Maternal abnormalities
(Malnutrition, diabetes, preeclampsia, teratogenic exposure)
2. Fetal abnormalities
3. Placental abnormalities
92
Surfactant produced by
Type 2 pneumocytes
93
Surfactant production results in reduced
Surface tension in lungs
94
Low surfactant can lead to
Atelectasis
95
___ regulates surfactant production in mature fetal lung tissue
Cortisol
96
Fetal Hydrops
Severe fetal edema during gestation
97
Categories of fetal Hydrops
Hydrops Fetalis
Cystic hygroma
98
Hydrops Fetalis
Widespread edema
| Lethal
99
Cystic hygroma
Localized edema
| Compatible with life
100
Possible causes of fetal Hydrops
Fetal anemia
Cardiovascular abnormalities
101
Complete recovery of fetal Hydrops usually results in
Cystic hygroma
102
Immune Hydrops aka
Erythroblastosis Fetalis
103
Antibody- induced hemolysis
Immune Hydrops
104
Immune Hydrops occurs due to blood incompatibility, but is rare due to
Rh prophylaxis
| Anti-D or RhoGAM
105
MC fetal Hydrops
Nonimmune fetal Hydrops
106
Result of erythroblastosis Fetalis
Kernicterus
107
Kernicterus observes an increase in ___ , which is neurotoxic and can accumulate in __ and ___
Bilirubin
Basal ganglia
Brain stem
108
2nd MC death from 5-14 years old
Pediatric tumors
109
Benign pediatric tumors
Hemangioma
Lymphangiomas
Sacrococcygeal teratomas
110
Signs of hemangiomas
Nevus Flammeus
“Port wine stain”
Nevus flammeus nuchae
“Stork bite”
Strawberry appearance
111
<1% all bone tumors of vertebral bodies or skull
Vertebral hemangioma
112
MC germ cell tumor of childhood
Sacrococcygeal teratoma
113
Lymphangiomas common in these areas
Neck
Trunk
Axilla
114
___ hemangiomas are less likely to naturally fade with age
Flat
115
Sign of vertebral hemangiomas
Corduroy vertebrae
116
Most sacrococcygeal teratomas are
Benign
117
Malignant sacrococcygeal teratomas location
Internal, near bladder or rectum
118
Immature teratomas have ___ and __ features
Benign and malignant
119
MC childhood cancer
Leukemia
120
Pediatric malignancy affects these tissues:
Hematopoietic
Neuronal
Soft tissues
121
Cancer of neural crest-derived cells
Neuroblastoma
122
Neuroblastoma affects __ and ___, components of the SNS
```
Sympathetic ganglia (60%)
Adrenal medulla (40%)
```
123
Sign of neuroblastoma
Catecholamines in urine
124
Neuroblastoma composes 50% of ___ cancers and 7-10% ___ cancers
Infantile
| All pediatric cancers
125
Neuroblastoma Mets via
Blood or lymphatics
126
“Blueberry muffin baby” observed with ___ in this stage
Neuroblastoma
Stage 4S
127
Neuroblastoma Mets usually goes to
Liver
Lungs
Bone marrow
128
Homer-wright (pseudo) rosettes
Malignant neural crest cells surrounding neutrophil
Most secrete catecholamines (NE)
129
Homer-wright rosettes observed in
Neuroblastoma
130
Retinoblastoma
Retinal CA
131
Retinoblastoma MC age __ and is rarely ___
2
Congenital
132
Retinoblastoma can be __ or __
Genetic
| Sporadic
133
Most cases of retinoblastoma are ___
Sporadic (60%)
134
Genetic retinoblastoma
Inherited RB mutation
135
Sporadic retinoblastoma
Sporadic RB mutation
136
Genetic retinoblastoma is multiple and ___
Bilateral
137
Genetic retinoblastoma increases risk of
Sarcomas
138
Pediatric cancers are usually composed of ___ cells
Primitive/ embryonal
139
In patients older than 2 yo, ___ may go unnoticed until metastatic destruction
Neuroblastoma
140
Stage 4S of neuroblastoma involve Mets to
Liver
Skin
Bone marrow
141
Signs of retinoblastoma
Pain
Cat’s eye reflex
Strabismus (cross-eyed)
Poor vision
142
Flexner-wintersteiner rosettes
Cuboidal cells around empty lumen
143
Flexner-wintersteiner rosettes observed in
Retinoblastoma
144
Retinoblastoma can Mets via ___ and affect Calvarium, or other osseous or lymphatic tissues
CN2
145
Wilms tumor aka
Nephroblastoma
146
Wilms tumor is childhood
Renal cancer
147
Wilms tumor MC
2-5 yo
148
Wilms tumor associated with WAGR syndrome, which stands for
Wilms tumor
Aniridia
Genitourinary
Mental retardation
149
Treatment for wilms tumor
Nephrectomy
| Chemo
