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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
From where do most malignant tumors in children arise?
Hemopoietic, nervous, soft tissues
26
Active hyperemia
Augmented supply of blood (increased blood supply)
27
Passive hyperemia
Congestion. Failure of venous return
28
Thrombus
Formation of a coagulate within the lumen of a vessel. Contains platelets, fibrin, and cellular elements
29
Lines of Zahn
Yellowish bands of platelets and fibrin seen on an arterial thrombus
30
Mural thrombus
A thrombus that is adherent to the vessel wall
31
What organs get pooling of blood first in right sided heart failure?
Liver and spleen
32
Conditions that favor the development of DVTs
Statis, injury, hypercoagulability, advanced age, sickle cell disease
33
Embolism
Passage through circulation of any material capable of lidging in a blood vessel and thereby obstructing the lumen
34
Does pulmonary edema typically involve a transudate or exudate?
Transudate
35
In what condition are heart failure cells found and where are they found?
Left-sided congestive heart failure. Found in lungs
36
What leads to nutmeg liver?
Chronic passive congestion of the liver (e.g. CHF)
37
Purpura
Diffuse superficial hemorrhage
38
Ecchymosis
Large superficial hemorrhage
39
Petechia
Pinpoint hemorrhage (coagulopathies, infected heart valves, vasculities)
40
What blood finding will be found in patients with excessive bleeding?
Elevated billirubin (failure to break down the heme in the blood)
41
What is the most common cause of arterial thrombosis?
Atherosclerosis
42
Activation of what protein yields a thrombus and how?
Activation of thrombin cleaves fibrinogen to yield fibrin (leads to a thrombus)
43
What protein lyses thrombi?
Plasmin
44
Thrombus organization
When the thrombus sits around and eventually becomes a permanent fixture
45
Atheroma
A fatty plaque from atherosclerosis
46
What is the requirement for formation of lines of zahn?
Blood must be flowing (the heart must be beating). These are used by forensic pathologists
47
What conditions lead to mural thrombosis in the heart wall?
MI, Atrial fibrillation, cardiomyopathy, endocarditis
48
Saddle embolism and the consequence
An embolus at the branch point between the left and right pulmonary arteries. Cardiogenic shock
49
What is the most common source of arterial emboli?
The heart (heart valves, heart walls, etc)
50
In what organs are pale infarcts typically seen?
Heart, kidneys, brain, and spleen
51
Transmural infarct
Complete occlusion of a major coronary artery
52
Subendocardial infarct
Prolonged ischemia caused by partial occlusion. Shock, anoxia, severe tachycardia
53
Two conditions that can lead to edema due to decreased oncotic pressure
Liver cirrhosis and nephrotic syndrome
54
What is the final cause of problems in septic shock?
Reduced blood volume (TNF-a injures endothelial cells and increases vascular permeability)
55
Front side
Back side
56
What are the most deadly birth defects?
Heart defects, followed by defects of brain and nervous system
57
What is the most common cause of mental retardation?
Fetal Alcohol Syndrome
58
What part of pregnancy is most suceptible to teratogenesis?
Weeks 2 - 8
59
Potter complex
Developmental sequence anomaly with dysplastic nose and ears (complication of oligohydramnios)
60
Spina bifida, acrania, anencephaly are examples of what type of error of morphogenesis?
Dysraphic anomalies
61
How does folic acid supplementation lower incidence of neural tube birth defects?
By lowering serum levels of homocysteine
62
The three trisomies you will see
13, 18, 21
63
Two examples of chromosal deletions and what is deleted
Cri du chat (5p) and Aniridia (11p)
64
Xeroderma pigmentosum, Fanconi anemia, Bloom syndrome, and various leukemias and lymphomas are all examples of what?
Chromosome breakage/translocation syndromes
65
What are the two numerical aberrations of sex chromoes you will see?
Kleinfelter and Turner
66
Give the biochemical abnormality for each of the following AD disorders: Marfan, Ehlers-Danlos, Osteogenesis Imperfecta, Neurofibromatosis, Achondroplastic dwarfism, Familial Hypercholesterolemia, Retinoblastoma
Marfan - fibrillin, Ehlers-Danlos - collagen, OI - collagen, NF - NF1 (a GAP), Dwarfism - Fibroblast growth factor, FH - LDL receptor, Rb - Rb tumor suppressor protein
67
What is the inheritence of Ehlers-Danlos?
Autosomal dominant
68
Symptoms of Ehlers-Danlos
Hyperelasticity and fragility of skin, joint hypermobility, bleeding diathesis (human pretzel)
69
Mutations in osteogenesis imperfecta affect synthesis of what type of collagen?
Type I collagen
70
Characteristics of Neurofibromatosis
Neurofibromas, Cafe-au-lait spots, Pigmented lesions of the iris (Lisch nodules)
71
What AD disorder is from a gene with a high rate of mutation and half of all cases are sporadic rather than familial?
Neurofibromatosis (the NF1 gene)
72
What does the neurofibromin protein (a GAP) deactivate and what type of protein does this make it?
It inactivates ras, this makes it a tumor suppressor
73
Achdonroplastic Dwarfism is a defect in what?
FGF-3 receptor
74
What is a xanthoma and what AD disease are they seen in?
Deposition of yellow, cholesterol-rich material in macrophages in tendons and skin, seen in familial hypercholesterolemia
75
Inheritence pattern of cystic fibrosis
Autosomal recessive
76
Inheritence pattern of Gaucher disease
Autosomal recessive
77
What are the two main affected organs in cystic fibrosis?
Lungs and exocrine pancreas
78
What is the inheritence of lysosomal storage diseases?
Autosomal recessive
79
What is the inheritence of achrondroplastic dwarfism?
Autosomal dominant
80
Gaucher disease involves accumulation of what due to deficiency of what?
Accumulation of glucosylceramide due to deficiency in glucosidase (aka cerebrosidase)
81
Characteristics of Gaucher disease
Gaucher cells, which are lipid-laden macrophages in red pulp of spleen, liver sinusoids, lymph nodes, lungs, bone marrow
82
In what developmental disease is avascular necrosis of bone seen?
Gaucher disease
83
Tay-Sachs involves accumulation of what?
Ganglioside (it is a GM2 gangliosidosis)
84
In what cells is accumulated GM2 ganglioside most apparent in Tay-Sachs
Brain neurons and cells of the retina
85
Approximately how long do children with Tay-Sachs live?
Most die before age 4
86
Name 4 Glycogenoses
von Gierike disease, Pompe disease, Andersen disease, McArdle disease
87
PKU is due to a deficiency in what enzyme?
Phenylalanine Hydroxylase
88
What compound is seen in the urine with PKU patients
Phenylpyruvic acid

Pathology (9 decks)

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