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General Pathology > Review questions chapter 6 > Flashcards

Review questions chapter 6 Flashcards

1
Q

All congenital disorders are hereditary

A

False

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2
Q

These types of disorders are derived from ones parents (common names none specific)

A

Familial/Hereditary

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3
Q

These disorders are typically present at birth

A

Congenital

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4
Q

What involves the substitution of a single nucleotide base that results in the coding for
a stop codon?

A

Point mutations

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5
Q

These mutations mutations interrupt translation, and in most cases RNAs are rapidly degraded, a phe- nomenon called nonsense mediated decay, such that little or no protein is formed.

A

Nonsense

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6
Q

These mutations occur when the insertion or deletion of one or two base pairs alters the reading frame of the DNA strand.

A

Frameshift mutations

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7
Q

These mutations belong to a special cate- gory, because these mutations are characterized by amplification of a sequence of three nucleotides.

A

Trinucleotide repeat mutations

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8
Q

Which of the following conditions is an example of a hereditary condition that is not congenital?

A

Muscular dystrophy

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9
Q

Autosomal recessive conditions typically express phenotypic changes in the ___________ state.

A

Homozygous

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10
Q

What are the chances of an offspring of two parents, whom are both heterozygote asymptomatic for a disorder, to be affected or present said disease?

A

25%

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11
Q

Which of the following is the result of a mutation in the FBN1 gene encoding fibrillin?

A

Marfan syndrome

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12
Q

________are a group of diseases characterized by defects in collagen synthesis or structure.

A

Ehler Danlos

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13
Q

These are the most common variants of Ehler Danlos

A

Deficiency of the enzyme lysyl hydroxylase., Deficient synthesis of type III collagen resulting from muta- tions affecting the COL3A1 gene., and Deficient synthesis of type V collagen due to mutations in COL5A1 and COL5A2

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14
Q

What is the most common familial disorder?

A

Familial hypercholesterolemia

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15
Q

Which area of the body is not commonly affected by Marfan syndrome?

A

Colon

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16
Q

Death from a(n) __________ is the most common cause of death among individuals with Marfan
syndrome. (

A

Aortic rupture/ Ruptured aortic aneurysm

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17
Q 
Isaiah	Austin	(shown	to	the	right)	was	unable	to	play	in	the	NBA	because	he	was	diagnosed	
with	\_\_\_\_\_\_\_\_,	which	increases	the	risk	of	ectopia	lentis	and	a	lethal	aortic	dissection.
A

Marfan syndrome

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18
Q

Most contortionists are believed to have a form of _____________.

A

Ehler Danlos

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19
Q

______is the most common lethal genetic disease that affects white populations. This disease is also Autosomal recessive

A

Cystic Fibrosis

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20
Q

Familial hypercholesterolemia involves a mutation in the LDLR gene and is present in 1 out of every
______ individuals.

A

500

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21
Q

Individuals that are homozygous for familial hypercholesterolemia commonly die of _________ before
the age of 20 years.

A

Myocardial infarction

Homozygotes have a greater risk

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22
Q

Children who lack phenylalanine hydroxylase will develop _________ if untreated early in life.

A

Mental Retardation

Phenylketonuria symptom

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23
Q

Treatment of galactosemia may prevent many of the pathological effects of the condition, but ______
disorders may remain

A

Speech

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24
Q

Which patient population is most likely to be impacted by a lysosomal storage disease?

A

Infants and young children

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25
Q

Which condition involves the accumulation of GM2 gangliosides within neurons and results in mental
retardation?

A

Tay Sachs

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26
Q

_____results from mutation in the gene that encodes glucocerebrosidase and is also cause by activation of macrophages

A

Gaucher disease

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27
Q

______ an autosomal recessive disorder of galac- tose metabolism that affects 1 in 60,000 live-born infants. The liver, eyes, and brain bear the brunt of the damage in this disease

A

Galactosemia

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28
Q

______ has hepatomegaly as a common symptom

A

Galactosemia

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29
Q

Which of the following conditions commonly manifests with results in coarse facial features and corneal
clouding?

A

Mucopolysaccharidosis

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30
Q

this disease manifests in childhood and is marked by ataxia, verti- cal supranuclear gaze palsy, dystonia, dysarthria, and psy- chomotor regression.

A

Niemann pick Type C

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31
Q

____ and ____ disease are related enti- ties characterized by a primary deficiency of acid sphingo- myelinase and the resultant accumulation of sphingomyelin. Death is usually around the age of 3

A

Niemann pick type A and B

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32
Q

Type ___ niemann pick patients have organomegaly but no neurologic manifestations

A

B

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33
Q

von Gierke disease is a ___________ of glycogen storage disease

A

Hepatic type

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34
Q

McArdle Syndrome is a type of _____ of glycogen storage disease

A

Myopathic

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35
Q

Von gierke mainly affects

A

Liver and kidneys

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36
Q

McArdle typically affects the

A

Skeletal muscle

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37
Q

Which glycogen storage disease manifests with cardiomegaly that may progress to cardiorespiratory
failure?

A

Pompe Disease (miscellaneous type)

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38
Q

Chromosomal abnormalities are present in approximately 1 in ______ newborns

A

200

39
Q

When genetic material is transferred from part of 1 chromosome to another it is termed a ___________.

A

Translocation

40
Q

Any number that is not an exact multiple of n is called

A

aneuploidy

41
Q

+_____resultwhenthecentromeredivideshori- zontally rather than vertically

A

isochormosome

42
Q

____ involves loss of a portion of a chromosome.

A

Deletion

43
Q

______ occur when there are two interstitial breaks in a chromosome, and the segment reunites after a com- plete turnaround.

A

Deletions

44
Q

_______isavariantofadeletion.Afterlossof segments from each end of the chromosome, the arms unite to form a ring.

A

Ring chromosome

45
Q

Additional genetic material produces more severe defects than does loss of genetic material.

A

False

46
Q

Excess chromosomal material may result from a com- plete chromosome (as in trisomy) or from part of a chro- mosome (as in robertsonian translocation).

A

True

47
Q

Most chromosomal disorders are inherited disorders. (

A

False

48
Q

Virtually all patients with trisomy 21 older than 40 years of age develop neuropathic changes associated
with __________.

A

Alzheimers

49
Q

_____ is the most common of the chromosomal disorders

A

down syndrome

50
Q

_____has a strong influence on the incidence of Down syndrome. It occurs in 1 in 1550 live births in women younger than 20 years, in contrast with 1 in 25 live births in women older than 45 years.

A

maternal age

51
Q

is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain

A

Hungtingtons disease

52
Q

Doctors of chiropractic should be aware that patients with trisomy 21 may manifest with

A

Atlanto-axial instability

53
Q

Down syndrome is the most common chromosomal disorder with an average incidence of 1 per
_______ live births

A

2,000 if normal age for birthing

33 for older age

54
Q

The most common cause of death among individuals between the ages of 1 and 14 years is _________.

A

Accidents

55
Q

When T cell immuno- deficiency and hypocalcemia are the dominant features, the patients are said to have

A

Digeorge syndrome

56
Q

patient presents mild immunodeficiency but pronounced dysmorphology and cardiac defects. DX:

A

velocardiofacial syndrome

57
Q

patients with 22q11.2 deletion are at particularly high risk for

A

psychoses such as schizophrenia and bipolar disorder.

58
Q

______ is best defined as male hypogonadism that develops when there are at least two X chromosomes and one or more Y chromosomes.

A

Klinefelter syndrome

59
Q

______ characterized by primary hypogonad- ism in phenotypic females, results from partial or complete monosomy of the short arm of the X chromosome.

A

turner syndrome

60
Q

SLE is commonly associated with this syndrome

A

Klinefelter

61
Q

_____results from deletion of maternal chromosomal region 15q12 and is characterized by mental retardation, ataxia, seizures, and inappropriate laughter.

A

Angelmans

62
Q

______syndrome results from deletion of paternal chromosomal region 15q12 and is characterized by mental retardation, short stature, hypotonia, obesity, and hypogonadism.

A

Prader Willi

63
Q

What are the 3 most common causes for death of children under age 1?

A
  1. congenital malformations, deformations, and chromosomal anomalies
  2. Premature birth and complications”
  3. SIDS
64
Q

The most common cause of death among individuals between the ages of 1 and 14 years is _________.

A

Accidents

65
Q

One (1) out of every ______ children is born with a congenital anomaly

A

33

66
Q

Intrauterine constraint is an example of which error in morphogenesis?

A

Deformations

67
Q

_____result from secondary destruction of an organ or body region that was previously normal in development; thus, in contrast with malformations, dis- ruptions arise from an extrinsic disturbance in morphogen- esis.

A

Disruptions

68
Q

represent primary errors of morpho- genesis.

A

Malformations

69
Q

Nearly all chromosomal syndromes are associated with congenital malformations and are the result of
abnormal gametogenesis.

A

True

70
Q

The most common cause of infant mortality is _______________.

A

Congenital chromosomal abnormalities

71
Q

Fetal infections may be acquired transplacentally or ______________.

A

Transcervically

72
Q

_____ involve spread of infection from the cervicovaginal canal and may be acquired in utero or during birth. Most bacterial infec- tions (e.g., α-hemolytic streptococcal infection) and a few viral infections (e.g., herpes simplex) are acquired in this manner.

A

Transcervical, or ascending, infections

73
Q

_____ gain access to the fetal blood- stream by crossing the placenta via the chorionic villi, and may occur at any time during gestation or occasion- ally, as may be the case with hepatitis B and human immunodeficiency virus, at the time of delivery via maternal-to-fetal transfusion.

A

Transplacental infections

74
Q

Respiratory distress syndrome, necrotizing enterocolitis, and sepsis are all conditions associated with
___________. (

A

Prematurity

75
Q

Fetal growth restriction is most frequently the result of complicating _________ factors.

A

Maternal

76
Q

Recovery begins within _____ in uncomplicated cases of neonatal respiratory distress syndrome with
management

A

3-4days

77
Q

causes include any factor that
compromises the uteroplacental supply line. This may result from placenta previa (low implantation of the pla- centa), placental abruption (separation of placenta from the decidua by a retroplacental clot), or placental infarc- tion. With placental (and maternal) causes of growth restriction, the growth retardation is asymmetric (i.e., the brain is spared relative to visceral organs such as the liver).

A

Placental factors

78
Q

____This category consists of conditions that intrinsically reduce growth potential of the fetus despite an adequate supply of nutrients from the mother

A

Fetal factors

79
Q

What is torch?

A

Toxoplasma (T), rubella virus (R), cytomegalovirus (C), herpesvirus (H), and any of a number of other (O) microbes such as Treponema pallidum.

80
Q

Neutrophils are commonly associated with the formation of hyaline membranes in infants with
respiratory distress syndrome. (

A

False

81
Q

In ______ of sudden infant death syndrome cases, the infant is younger than 6 months.

A

90%

82
Q

NEC typically involves the

A

Ileum, cecum, and right colon

83
Q

Which of the following is the most likely to be lethal?

A

Hydrops Fetalis

84
Q

more localized and less marked edematous processes, such as isolated pleural and perito- neal effusions or postnuchal fluid collections in the fetus

A

Cystic hygroma

85
Q

_____ results from an antibody-induced hemo- lytic disease in the newborn that is caused by blood group incompatibility between mother and fetus.

A

immune hydrops

86
Q

Which of the following is the most common tumor among infants?

A

hemangiomas

87
Q

Which tumor of infancy may develop in the adrenal medulla and is likely to secrete catecholamines?

A

neuroblastoma

88
Q

Which of the following is most likely to suggest that a 3-year-old has an undiagnosed neuroblastoma?

A

Bone pain, hepatomegaly, and ascites

89
Q

Most cases of retinoblastoma are ________ mutations of the RB1 gene

A

Sporadic

90
Q

A patient with a “cat’s eye reflex” may be suspected of having which condition?

A

retino blastoma

91
Q

Which of the following involves aniridia, genital abnormalities, and Wilms tumor?

A

WAGR syndrome

92
Q

Flexner-Wintersteiner rosettes are a characteristic finding of which condition?

A

Retinoblastomas

93
Q

Respiratory distress syndrome, NE, and sepsis are all conditions associated with

A

Prematurity

General Pathology (10 decks)

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