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Pathology > Childhood diseases I > Flashcards

Childhood diseases I Flashcards

1
Q

Flattened nasal bridge + oral cavity malformations + bowing shins= ?

A

Congenital syphilis

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2
Q

What are anomalies?

A

Morphologic defects that are present at birth

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3
Q

What is the cause of most congential abnormalities? Percent?

A

Unknown (40-60%)

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4
Q

What percent of congenital malformations are multifactorial? Percent?

A

20-25%

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5
Q

What is the the most common malformation? Percent?

A

Clubfoot with CNS (25.7%)

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6
Q

What is the second most common malformation? Percent?

A

PDA (16.9%)

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7
Q

What is the third most common malformation? Percent?

A

VSD (11%)

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8
Q

What is the fourth most common malformation?Percent?

A

Cleft lip/palate (9.1%)

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9
Q

What is the clubfoot?

A

Internal rotation of a foot at the ankle

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10
Q

What is PDA?

A

Patent ductus arteriosus fails to close after birth.

recall DA shunts pulmonary blood to the aorta

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11
Q

What are VSDs?

A

Ventricular septum does not come up fully. Thus left ventricle can move to the right.

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12
Q

What is the cause of the cleft lip?

A

Incomplete closure of the pharynges

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13
Q

What is atresia?

A

Abnormal closure of a lumen–esophageal or rectal

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14
Q

What are the two major genetic diseases of childhood?

A

Down syndrome

CF

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15
Q

What is the most common chromosomal disorder?

A

Trisomy 21

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16
Q

What CA are Down syndrome patients susceptible to?

A

Leukemia (acute megakaryoblastic leukemia)

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17
Q

What happens to Down syndrome patients after age 40?

A

Neurodegenerative changes characteristic of Alzheimer’s

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18
Q

Why are Down pts susceptible to thyroid diseases?

A

Abnormal immune response

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19
Q

At what maternal age does Down syndrome probability increase?

A

at 35, much more at 40

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20
Q

What is the incidence of Down syndrome?

A

1 in 700

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21
Q

What is the cause of increased probability of having a Down syndrome child with increasing maternal age?

A

Meiotic nondisjunction

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22
Q

What is the Robertsonian translocation? What percent of down patients have this?

A

(14;21q), +21 (translocation produces extra bits of Cr21, but not a full chromosome)

4%

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23
Q

What is the Robersonian translocation? What percent of down patients have this?

A

(14;21q), +21 (translocation produces extra bits of Cr21, but not a full chromosome)

4%

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24
Q

What is the mosaic type of Down syndrome? What percent of down patients have this?

A

Mixture of some cells with an extra 21st chromosome, and another without

1%

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25
Q

What are the characteristics of Down syndrome pts? (3)

A
  1. Flattened nasal bridge
  2. Epicanthal folds on inner corner of eyes
  3. Palpebral fissures slant upward
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26
Q

What is the simian crease?

A

Single, transverse crease on the palm of the hand–can be seen in downs (or not)

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27
Q

What is the foot characteristic of Down syndrome?

A

Space between the first and second toes

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28
Q

What is the inheritance pattern of CF?

A

AR

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29
Q

What is the incidence of CF?

A

1 in 3200

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30
Q

What is the problem with CF?

A

Epithelial CFTR transporter, resulting in high salt [c] in exocrine glands

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31
Q

How do you diagnose CF?

A

Hypertonic sweat

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32
Q

What is the CFTR gene location?

A

7q 31.2

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33
Q

What is the most common mutation that leads to CF?

A

deletion of 3 nucleotides coding for F at 508 position

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34
Q

What causes a salty baby?

A

Cl cannot flow into ducts of sweat glands, thus Na cannot either.

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35
Q

How many different mutations give rise to CF?

A

over 800

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36
Q

What causes a salty baby?

A

Cl cannot flow into cells, thus Na cannot either.

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37
Q

What is the effect of CFTR mutation in mucus glands?

A

Cl cannot escape cells, thus Na and water flow inward at an increased rate.

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38
Q

What are the digestive issues with CF? (4)

A

Biliary cirrhosis
Malabsorption
Meconium ileus
Chronic pancreatitis

39
Q

What bacterial infections are CF patients predisposed to?

A

Pseudomonas Aeruginosa

40
Q

What is the heart dysfunction seen in CF?

A

Cor pulmonale

41
Q

What are the digestive issues with CF? (3)

A

Biliary cirrhosis
Malabsorption
Meconuim lueus

42
Q

What is the normal term for babies?

A

38-42 weeks

43
Q

What is the male issues of CF?

A

Vas Deferens is clogged

44
Q

What are the histological changes seen in CF?

A

Fibrotic changes in the lung

45
Q

What are neonates?

A

0-28 days after birth

46
Q

What are the five components of the APGAR score?

A 
Color
HR
Respiration
Reflex
Muscle tone
47
Q

What is the cutoff for post-term babies?

A

> 42 weeks

48
Q

What is the cutoff for an “infant”?

A

28 days to 1 year

49
Q

What is a child?

A

1-17 years

50
Q

What are the two other names for fetal growth restrictions?

A

Small for gestational age (SGA)

Intrauterine growth restriction (IUGR)

51
Q

What are the fetal causes of fetal growth restrictions?

A

Chromosomal/genetic or congential malformations

52
Q

What is the placental cause of fetal growth restrictions?

A

Placental abnormalities, infx,

53
Q

What is the maternal cause of fetal growth restrictions?

A

Preeclampsia, renal disease, drugs

54
Q

What are the ranges of APGAR score?

55
Q

The APGAR score is taken when? What percent chance of death with what scores?

A

5 minutes
0-1 = 50%
4 = 20%
>7 = 0%

56
Q

What percent of births are premature?

57
Q

What is the definition of fetal growth restriction?

A

Fetal weight that is below 10th percentile for gestational age as determined by ultrasound

58
Q

What is a subgaleal hematoma?

A

Bleeding in the potential space between the skull periosteum and the scalp galea aponeurosis. Can happen during birth.

59
Q

What are the three main causes of fetal growth restrictions?

A

Fetal
Placental
Maternal

60
Q

What are the transplacental infections?

A 
Toxoplasmosis
Other
**Rubella**
Cytomegalovirus
Herpes
61
Q

What are the “other” causes of transplancental infectinos?

A 
Listeriosis
**Syphilis**
HIV
HBV
Parvovirus B19
62
Q

What are the characteristics of the rash with congential syphillus?

A

vesiculobullous–highly infectious

63
Q

What is the cause of syphilis? When can this cross the placenta?

A

Treponema pallidum

5th month

64
Q

When are the two characteristics of the teeth in congential syphillis?

A

Mulberry molars

Hutchinson incisors

65
Q

Saber shin = what disease

A

Sharp anterior bowing of the tibia caused by congential syphilis

66
Q

What are the fire major symptoms of congenital rubella syndrome?

A 
Low weight
Purpuric rash
Microcephaly
Heart defects
Cataracts
67
Q

What is the fetal cause of fetal growth restrictions?

A

Chromosomal or congential malformations

68
Q

What is the placental cause of fetal growth restrictions?

A

Placental abnormalities, infx,

69
Q

What is the maternal cause of fetal growth restrictions?

A

Preeclampsia, renal disease, drugs

70
Q

What does it mean that fetal restrictions are symmetric?

A

all systems are similarly affected

71
Q

What type of fetal growth restrictions is asymmetric?

A

Placental and maternal

72
Q

What are the two consequences of smoking while prego?

A
  1. Premature

2. Asymmetric FGR

73
Q

What is caput succedaneum?

A

Benign Scalp swelling caused by the pressure of the presents part of the scalp

74
Q

What are the three types of perinatal infections?

A
  1. Transplacental
  2. Ascending
  3. Combo
75
Q

What are the transplacental infections?

A 
Toxoplasmosis
Other
Rubella
Cytomegalovirus
Herpes
76
Q

What is the cause of syphillus?

A

Treponema pallidum

77
Q

When does Treponema pallidum cross the placenta?

78
Q

Hutchinson incisors = what disease?

A

Congenital syphilis

79
Q

Saber shin = what disease

A

Sharp anterior bowing of the tibia

80
Q

What are the symptoms of congenital rubella syndrome?

A 
Low weight
Purpuric rash
Small head
Heart defects
Visual problems
81
Q

When in the pregnancy does congential rubella syndrome develop?

A

1st trimester

82
Q

What are the intestinal problems with Downs?

A

Intestinal stenosis

83
Q

What are the muscular characteristics of down syndrome?

84
Q

What are the gradings for color in the APGAR scoring?

A

Entirely blue = 0
Blue extremities = 1
No cyanosis = 2

85
Q

What are the gradings for heart rate in the APGAR scoring?

A 
Absent = 0
100 = 2
86
Q

What are the gradings for respirations in the APGAR scoring?

A 
ABsent = 0
Weak/irregular = 1
Strong = 2
87
Q

What are the gradings for reflexes in the APGAR scoring?

A

Absent = 0
Grimace or feeble cry = 1
Sneeze/cough or pulls away = 2

88
Q

What are the gradings for muscle tone in the APGAR scoring?

A

None = 0
Some flexion = 1
Active movement = 2

89
Q

What is the second most common cause of neonatal mortality?

A

Prematurity

90
Q

What are the risks factors for premature birth?

A

PPROM
Smoking
Previous preterm
Vaginal bleeding

91
Q

What is Cephalhematoma?

A

Hemorrhage under the periosteum

92
Q

True or false: subgaleal hemorrhage extends over the entire scalp

93
Q

What are the symptoms of a subarachnoid hemorrhage at birth?

A

Apnea
SZs
hydrocephaly

94
Q

What is Germinal Matrix Hemorrhage ?

A

a bleeding into the subependymal germinal matrix with or without subsequent rupture into the lateral ventricle

Pathology (32 decks)

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