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Pathology > Developmental and Genetic Disorders > Flashcards

Developmental and Genetic Disorders Flashcards

1
Q

Glycogenoses

A

Diseases involving accumulation of glycogen

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2
Q

Where are glycogenoses typically manifest?

A

Liver, skeletal muscle, heart

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3
Q

What type of disease is albinism?

A

An inborn error of AA metabolism

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4
Q

What is the effect of hyperphenylalanimeia?

A

Neurotoxicity (PKU)

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5
Q

Gene abnormality in muscular dystrophy

A

dystrophin

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6
Q

Gene abnormality in hemophilia A and hemophilia B

A

Clotting factor 8 (A) and 9 (B)

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7
Q

What type of repeat is present in Fagile X?

A

CGG

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8
Q

Onset and life expectancy in muscule dystrophy

A

4 years, around 20 years

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9
Q

What family of proteins is spectrin in and what disease is it involved in?

A

Dystrophins, involved in Muscular Dystrophy

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10
Q

Prevelance of Fragile X syndrome

A

1 in 1250 males, 1 in 2500 females

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11
Q

What genetic phenomenon does Fragile X syndrome (as a trinucleotide repeat) show?

A

Genetic anticipation

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12
Q

How large are the trinucleotide repeats in Fragile X?

A

200-1000 repeats

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13
Q

What is the consequence of Fragile X?

A

Mental retardation

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14
Q

Where do mitochondrial diseases manifest first?

A

Nervous system, heart, skeletal muscle

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15
Q

Leber hereditary optic neuropathy

A

Progressive loss of vision, the first mitochondrial disease described

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16
Q

What is another name for Angelman syndrome (not used anymore)

A

Happy Puppet Syndrome

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17
Q

What is the risk for cleft lip/palate to first degree relatives and what type of inheritence does it display?

A

5-10%, multifactorial inheritence

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18
Q

AGA and SGA (regarding infancy and childhood)

A

Appropriate for Gestational Age, Small for Gestational Age

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19
Q

What causes respiratory distress syndrome?

A

A deficiency of surfactant

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20
Q

What type of exudate is seen in respiratory distress syndrome?

A

Fibrinous exudate

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21
Q

What causes erthroblastosis fetalis?

A

A blood type mismatch between mother and fetus (Rh antigens)

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22
Q

What are the results of erythroblastosis fetalis?

A

Varies from mild hemolysis to fatal anemia (hydrops fetalis)

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23
Q

Features of hydrops fetalis

A

Anasarca (severe edema), fatal anemia, high-output heart failure

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24
Q

What is the leading cause of death from disease in children ages 1-15?

A

Cancer

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25
Q

From where do most malignant tumors in children arise?

A

Hemopoietic, nervous, soft tissues

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26
Q

Active hyperemia

A

Augmented supply of blood (increased blood supply)

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27
Q

Passive hyperemia

A

Congestion. Failure of venous return

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28
Q

Thrombus

A

Formation of a coagulate within the lumen of a vessel. Contains platelets, fibrin, and cellular elements

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29
Q

Lines of Zahn

A

Yellowish bands of platelets and fibrin seen on an arterial thrombus

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30
Q

Mural thrombus

A

A thrombus that is adherent to the vessel wall

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31
Q

What organs get pooling of blood first in right sided heart failure?

A

Liver and spleen

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32
Q

Conditions that favor the development of DVTs

A

Statis, injury, hypercoagulability, advanced age, sickle cell disease

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33
Q

Embolism

A

Passage through circulation of any material capable of lidging in a blood vessel and thereby obstructing the lumen

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34
Q

Does pulmonary edema typically involve a transudate or exudate?

A

Transudate

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35
Q

In what condition are heart failure cells found and where are they found?

A

Left-sided congestive heart failure. Found in lungs

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36
Q

What leads to nutmeg liver?

A

Chronic passive congestion of the liver (e.g. CHF)

37
Q

Purpura

A

Diffuse superficial hemorrhage

38
Q

Ecchymosis

A

Large superficial hemorrhage

39
Q

Petechia

A

Pinpoint hemorrhage (coagulopathies, infected heart valves, vasculities)

40
Q

What blood finding will be found in patients with excessive bleeding?

A

Elevated billirubin (failure to break down the heme in the blood)

41
Q

What is the most common cause of arterial thrombosis?

A

Atherosclerosis

42
Q

Activation of what protein yields a thrombus and how?

A

Activation of thrombin cleaves fibrinogen to yield fibrin (leads to a thrombus)

43
Q

What protein lyses thrombi?

A

Plasmin

44
Q

Thrombus organization

A

When the thrombus sits around and eventually becomes a permanent fixture

45
Q

Atheroma

A

A fatty plaque from atherosclerosis

46
Q

What is the requirement for formation of lines of zahn?

A

Blood must be flowing (the heart must be beating). These are used by forensic pathologists

47
Q

What conditions lead to mural thrombosis in the heart wall?

A

MI, Atrial fibrillation, cardiomyopathy, endocarditis

48
Q

Saddle embolism and the consequence

A

An embolus at the branch point between the left and right pulmonary arteries. Cardiogenic shock

49
Q

What is the most common source of arterial emboli?

A

The heart (heart valves, heart walls, etc)

50
Q

In what organs are pale infarcts typically seen?

A

Heart, kidneys, brain, and spleen

51
Q

Transmural infarct

A

Complete occlusion of a major coronary artery

52
Q

Subendocardial infarct

A

Prolonged ischemia caused by partial occlusion. Shock, anoxia, severe tachycardia

53
Q

Two conditions that can lead to edema due to decreased oncotic pressure

A

Liver cirrhosis and nephrotic syndrome

54
Q

What is the final cause of problems in septic shock?

A

Reduced blood volume (TNF-a injures endothelial cells and increases vascular permeability)

55
Q

Front side

A

Back side

56
Q

What are the most deadly birth defects?

A

Heart defects, followed by defects of brain and nervous system

57
Q

What is the most common cause of mental retardation?

A

Fetal Alcohol Syndrome

58
Q

What part of pregnancy is most suceptible to teratogenesis?

A

Weeks 2 - 8

59
Q

Potter complex

A

Developmental sequence anomaly with dysplastic nose and ears (complication of oligohydramnios)

60
Q

Spina bifida, acrania, anencephaly are examples of what type of error of morphogenesis?

A

Dysraphic anomalies

61
Q

How does folic acid supplementation lower incidence of neural tube birth defects?

A

By lowering serum levels of homocysteine

62
Q

The three trisomies you will see

A

13, 18, 21

63
Q

Two examples of chromosal deletions and what is deleted

A

Cri du chat (5p) and Aniridia (11p)

64
Q

Xeroderma pigmentosum, Fanconi anemia, Bloom syndrome, and various leukemias and lymphomas are all examples of what?

A

Chromosome breakage/translocation syndromes

65
Q

What are the two numerical aberrations of sex chromoes you will see?

A

Kleinfelter and Turner

66
Q

Give the biochemical abnormality for each of the following AD disorders: Marfan, Ehlers-Danlos, Osteogenesis Imperfecta, Neurofibromatosis, Achondroplastic dwarfism, Familial Hypercholesterolemia, Retinoblastoma

A

Marfan - fibrillin, Ehlers-Danlos - collagen, OI - collagen, NF - NF1 (a GAP), Dwarfism - Fibroblast growth factor, FH - LDL receptor, Rb - Rb tumor suppressor protein

67
Q

What is the inheritence of Ehlers-Danlos?

A

Autosomal dominant

68
Q

Symptoms of Ehlers-Danlos

A

Hyperelasticity and fragility of skin, joint hypermobility, bleeding diathesis (human pretzel)

69
Q

Mutations in osteogenesis imperfecta affect synthesis of what type of collagen?

A

Type I collagen

70
Q

Characteristics of Neurofibromatosis

A

Neurofibromas, Cafe-au-lait spots, Pigmented lesions of the iris (Lisch nodules)

71
Q

What AD disorder is from a gene with a high rate of mutation and half of all cases are sporadic rather than familial?

A

Neurofibromatosis (the NF1 gene)

72
Q

What does the neurofibromin protein (a GAP) deactivate and what type of protein does this make it?

A

It inactivates ras, this makes it a tumor suppressor

73
Q

Achdonroplastic Dwarfism is a defect in what?

A

FGF-3 receptor

74
Q

What is a xanthoma and what AD disease are they seen in?

A

Deposition of yellow, cholesterol-rich material in macrophages in tendons and skin, seen in familial hypercholesterolemia

75
Q

Inheritence pattern of cystic fibrosis

A

Autosomal recessive

76
Q

Inheritence pattern of Gaucher disease

A

Autosomal recessive

77
Q

What are the two main affected organs in cystic fibrosis?

A

Lungs and exocrine pancreas

78
Q

What is the inheritence of lysosomal storage diseases?

A

Autosomal recessive

79
Q

What is the inheritence of achrondroplastic dwarfism?

A

Autosomal dominant

80
Q

Gaucher disease involves accumulation of what due to deficiency of what?

A

Accumulation of glucosylceramide due to deficiency in glucosidase (aka cerebrosidase)

81
Q

Characteristics of Gaucher disease

A

Gaucher cells, which are lipid-laden macrophages in red pulp of spleen, liver sinusoids, lymph nodes, lungs, bone marrow

82
Q

In what developmental disease is avascular necrosis of bone seen?

A

Gaucher disease

83
Q

Tay-Sachs involves accumulation of what?

A

Ganglioside (it is a GM2 gangliosidosis)

84
Q

In what cells is accumulated GM2 ganglioside most apparent in Tay-Sachs

A

Brain neurons and cells of the retina

85
Q

Approximately how long do children with Tay-Sachs live?

A

Most die before age 4

86
Q

Name 4 Glycogenoses

A

von Gierike disease, Pompe disease, Andersen disease, McArdle disease

87
Q

PKU is due to a deficiency in what enzyme?

A

Phenylalanine Hydroxylase

88
Q

What compound is seen in the urine with PKU patients

A

Phenylpyruvic acid

Pathology (9 decks)

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