Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pathology 1 > Ch 5&10 Genetic And Congenital Disorders > Flashcards

Ch 5&10 Genetic And Congenital Disorders Flashcards

0
Q

How much of congenital defects are caused by chromosomal abnormalities?

A

2%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
0
Q

What can the soft skull in OI type II cause during delivery?

A

Intracranial hemorrhage and stillbirth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

What are the four main stages in prenatal development?

A
  1. Preimplantation embryonic stage
  2. Germ layer formation
  3. Early organogenesis
  4. Definite organogenesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Three types of exogenous teratogens?

A
  1. Physical
  2. Chemical
  3. Microbial
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the most severe NON-LETHAL type of OI?

A

Type III

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Examples of physical teratogens?

A

X rays, corpuscular radiation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Signs/symptoms of OI type III?

A

Short stature, spinal curvature, multiple recurrent fractures, macrocephaly with triangular faces. Scleral hue varies.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Examples of chemical teratogens?

A

Industrial chemicals, drugs, alcohol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the severity of OI type IV?

A

Intermediate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Examples of microbial teratogens?

A

Viruses, bacteria, protozoal parasites

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Signs/symptoms of OI type IV?

A

Bones fracture easily in childhood, moderate-short stature. Sclera typically NORMAL in color

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is thalidomide?

A

Exogenous teratogen - prevented morning sickness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Why is accurate diagnosis of type IV OI important?

A

Patients may benefit from treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What effect does thalidomide have on babies?

A

Phocomelia (flipper-like arms or legs)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are blue sclerae characteristically associated with?

A

heritable disorders of connective tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Where was thalidomide used in the fifties/sixties?

A

UK, Canada, Germany, Japan

NOT IN US

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Why does blue discoloration occur in sclera?

A

Thinning of sclera allows underlying choroid to become visible.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How common are fetal alcohol spectrum disorders (FASDs)?

A

0.2 to 1.5 per 1000 live births in US

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is Familial Hypercholesterolemia AKA?

A

Hyperlipidemia type IIA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Characteristics of FASDs?

A

see list slide 11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is Familial Hypercholesterolemia?

A

Elevated LDLs owing to defective or absent LDL receptors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What does T stand for in TORCH syndrome?

A

Toxoplasma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the approx. cholesterol level in heterozygotes of familial hypercholesterolemia?

A

~300mg/dL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What does O stand for in TORCH?

A

(Others)

Less common viruses Ex Epstein Barr, varicella virus, listeria monocytogenes, leptospira

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the approx. cholesterol level in homozygotes of familial hypercholesterolemia?

A

~700+ mg/dL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What does R stand for in TORCH?

A

Rubella

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What other signs and symptoms will homozygotes for familial hypercholesterolemia exhibit?

A

severe atherosclerotic disease early in life, tendon xanthomas (classicaly in Achilles tendon), MI may develop before age 20

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What does C stand for in TORCH?

A

Cytomegalovirus (CMV)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Normal LDL receptor pathway?

A

LDL endocytosed into clathrin coated pit -> Coated vesicle -> Endosome -> lysosome -> Free Cholesterol -> Cell membrane, steroid hormones, bile acids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What does H stand for in TORCH?

A

Herpesvirus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How are VLDLs normally metabolized?

A

Lipolysis via lipoprotein lipase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What does (S) stand for in TORCH(eS)?

A

Syphilis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

How are LDL receptor mutations classified?

A

Based on abnormal function of the mutant protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What does rubella cause?

A

Small/structurally abnormal brain

Heart defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How is each class of LDL receptor mutation characterized at the DNA level?

A

HETEROGENOUS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What do toxoplasma and CMV cause?

A

Micro calcification of basal ganglia and dilation of lateral ventricles (hydrocephalus)
CNS defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Treatment of familial hypercholesterolemia? (3)

A

Nicotinic acid, high dietary fiber, statin drugs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What does herpesvirus cause?

A

CNS defects

Skin lesions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the effects of nicotinic acid?

A

Increases HDL, lowers TGs, lowers LDL (higher doses), lower Lp(a)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Symptoms of congenital rubella syndrome?

A

Microcephaly, heart disease, petechiae/purpura, eye anomalies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Frequent adverse effects of nicotinic acid?

A

Flushing, impaired glucose tolerance, increased uric acid.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Two types of chromosomal anomalies?

A

Structural and numerical

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

How do you minimize flushing with nicotinic acid?

A

Use aspirin and give with food

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Types of structural chromosomal abnormalities?

A

Translocation, isochromosomes, deletions, inversions, ring chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the inheritance pattern for polycystic kidney disease?

A

autosomal dominant (adult form) or autosomal recessive (juvenile form)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Types of numerical chromosomal abnormalities?

A

Aneuploidy, hyperdiploidy, hypodiploidy, monosomy, trisomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the incidence of autosomal dominant PKD?

A

1/1000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is aneuploidy?

A

Loss or gain of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What percentage of end-stage renal disease patients are due to PKD?

A

5-10%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is hyperdiploidy?

A

Specific type of aneuploidy

46+1, 46+2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

How often are clinical manifestations of ADPKD before adulthood?

A

RARE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is hypodiploidy?

A

Specific type of aneuploidy

46-1, 46-2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Incidence of autosomal recessive PKD?

A

RARE - 1/10000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is FISH?

A

Fluorescence in situ hybridization

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What does recessive PKD often cause in childhood?

A

Renal failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is trisomy 21?

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is PKD associated with?

A

polycystic liver disease, BERRY ANEURYSMS, mitral valve prolapse

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Characteristics of Down syndrome?

A

Mental retardation, unique facial features, eye abnormalities, gaping mouth, large tongue, heart diseases, intestinal defects, hand abnormalities, toe abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What are 86-96% of ADPKD cases caused by?

A

mutations in PKD1 GENE on chromosome 16

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the major risk factor for Down syndrome?

A

AGe of mother

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What are most other cases of ADPKD caused by?

A

mutations in PKD2 GENE on chromosome 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is the incidence of Down syndrome?

A

1 in 700 births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What does polycystin 1 regulate?

A

Tubular epithelial cell adhesion and differentiation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the Incidence of Edwards syndrome?

A

1 in 8000 births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What does polycystin 2 regulate?

A

ion channel, mutations cause fluid secretion into cysts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the incidence of Patau syndrome?

A

1 in 15000 births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What are tubular cell proliferation and differentiation linked to?

A

Flow rate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is Edwards syndrome ?

A

Trisomy 18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What may ciliary dysfunction lead to?

A

Cystic transformation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is Patau syndrome?

A

Trisomy 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the prognosis for PKD?

A

By age 75, 50-75% of patients require renal replacement therapy (dialysis or transplant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What is the most common autosomal trisomy?

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What is the Tx for PKD?

A

Strict BP control, restricted protein intake.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is the life expectancy of Down syndrome ?

A

45-50 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Is PKD bilateral or unilateral?

A

ALWAYS BILATERAL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What is the life expectancy of Edwards syndrome?

A

<1 year

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What is spherocytosis?

A

Congenital RBC membrane disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What is the life expectancy of Patau syndrome?

A

<1 year

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Symptoms of spherocytosis?

A

variable degrees of anemia, jaundice, and splenomegaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What is the most common cause of mental retardation?

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What does diagnosis of spherocytosis require?

A

demonstration of increased RBC osmotic fragility and a NEGATIVE direct antiglobulin test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What is the level of mental retardation with Edwards syndrome?

A

Severe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What do patients <45 yrs with symptomatic disease require?

A

splenectomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is the level of mental retardation with patau syndrome?

A

Severe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What causes RBC abnormalities in spherocytosis?

A

alterations in membrane proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Other disease risks with Down syndrome?

A

ALL, Alzheimer’s >35

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What happens to cell membrane surface area during spherocytosis?

A

Decreased disproportionately to intracellular content

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Characteristics of head/face in Down syndrome?

A

Flat facial profile, prominent epicanthal folds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What does decreased surface area of cell in spherocytosis impair?

A

Impairs flexibility needed for cell to traverse spleen’s microcirculation => intrasplenic hemolysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Characteristics of head/face in Edwards syndrome?

A

Prominent occiput, micrognathia, low set ears

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What is considered curative for spherocytosis in western medicine?

A

splenectomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Characteristics of head/face in Patau syndrome?

A

Micropthalmia, microcephaly, cleft lip/palate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What does presence of spherocytes in peripheral blood smear suggest?

A

EITHER hereditary spherocytosis (HS) or autoimmune hemolytic anemia (AIHA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Are congenital heart defects associated with Down syndrome?

A

Yes especially septum primum type ASD

Due to endocardial cushion defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

How do you distinguish between HS and AIHA?

A

Coombs’ test. POSITIVE in AIHA, NEGATIVE in HS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Are congenital heart defects associated with Edwards syndrome?

A

Yes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What is Huntington disease?

A

Autosomal dominant disorder characterized by chorea and progressive cognitive deterioration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Are congenital heart defects associated with Patau syndrome?

A

Yes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

When do symptoms of Huntington disease usually begin?

A

Middle age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Hand characteristics in Down syndrome?

A

Simian crease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

How is Huntington disease diagnosed?

A

Genetic testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Hand characteristics in Edwards syndrome?

A

Clenched hands

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What is the treatment for Huntington disease?

A

Supportive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Hand characteristics in Patau syndrome?

A

Polydactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Who should get tested for Huntingtons?

A

First-degree relatives

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Feet characteristics of down syndrome?

A

Gap between first two toes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Which sex is more affected by Huntingtons?

A

BOTH affected EQUALLY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Feet characteristics of edwards syndrome?

A

Rocker bottom feet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What happens to caudate nucleus in Huntingtons?

A

atrophies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Feet characteristics of patau syndrome?

A

Rocker bottom feet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What happens to medium spiny neurons in corpus striatum in Huntingtons?

A

Degenerate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Two abnormalities of sex chromosomes?

A

Turner syndrome

Klinefelter syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What happens to levels of GABA and substance P in Huntingtons?

A

Decrease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What is the main pathogenesis of turners and klinefelters syndrome?

A

NONDISJUNCTION

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What does Huntington’s disease result from?

A

Gene mutation on chromosome 4, causing abnormal repetition of DNA sequence CAG (which codes for glutamine)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What is incidence of Turner syndrome?

A

1 in 3000 female births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What is the resulting gene product of the mutation in Huntingtons?

A

Large protein called huntingtin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Characteristics of Turner syndrome?

A

list slide 30

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

How does huntingtin lead to disease?

A

unknown mechanisms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What is the most common cause of primary amenorrhea?

A

Turner syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What happens with increased CAG repetitions?

A

More repetitions = earlier disease begins and more severe effects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What gender do turners syndrome present as?

A

Female

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

How can the number of repeats of CAG increase?

A

With successive generations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Characteristics of klinefelters syndrome?

A

list slide 31

62
Q

What can increasing repeats of CAG lead to over time?

A

more severe phenotype within a family tree

63
Q

What gender do klinefelters syndrome present as?

A

Male

63
Q

Signs/symptoms of Huntingtons?

A

Dementia/psychiatric disturbances, abnormal movements (myoclonic jerks, irregular movements of extremeties, lilting gate, grimacing, ataxia, tongue protrusion)

64
Q

Four types of single gene defects?

A

Alleles - genes expressed in duplicate
Homozygotes
Heterozygotes
Sex chromosome linked genes

64
Q

How does Huntingtons progress?

A

Makes walking impossible, swallowing difficult, severe dementia. Death usually occurs 13 to 15 yrs after symptoms begin

65
Q

5 types of Mendelian inheritance?

A
  1. Autosomal dominant
  2. Autosomal recessive
  3. Sex linked recessive
  4. Sex linked dominant
  5. Mitochondrial inheritance
65
Q

What is the usual cause of death of Huntingtons patients?

A

Pneumonia or coronary artery disease

66
Q

When are autosomal dominant trait expressed?

A

In heterozygotes or homozygotes

66
Q

What are the trinucleotide repeat expansion diseases?

A

Huntingtons dz, myotonic dystrophy, friedreich’s ataxia, fragile x syndrome

67
Q

Which generations are affected with autosomal dominant Inheritance?

A

EVERY generation

67
Q

What is genetic anticipation?

A

in each successive generation the disease severity INCREASES and the age of onset DECREASES

68
Q

What are the chances of an affected heterozygote transmitting an autosomal dominant gene to their offspring?

A

50%

68
Q

When are autosomal recessive traits expressed?

A

In homozygotes

69
Q

What are the chances of an affected homozygote transmitting an autosomal dominant gene to their offspring?

A

100%

69
Q

What percentage of offspring from 2 carrier parents will be affected in autosomal recessive traits?

A

25%

70
Q

Will unaffected offspring of symptomatic carrier of autosomal dominant gene transmit the trait?

A

NO

70
Q

What are autosomal recessive disorders often due to?

A

enzyme deficiencies

71
Q

What are the odds of transmission of an autosomal dominant gene from two heterozygotes to their offspring?

A

25% homozygote carrier
50% heterozygote
25% unaffected

71
Q

When do autosomal recessive disorders usually present?

A

CHILDHOOD

72
Q

What is the affected tissue in marfan’s syndrome?

A

Connective tissue

72
Q

How severe are autosomal recessive disorders?

A

Commonly MORE severe than dominant

73
Q

What is the affected tissue in achondroplastic dwarfism?

A

Bones

73
Q

Examples of autosomal recessive disorders?

A

Cystic fibrosis, amino acid disorders, anemias, hemochromatosis, alpha1-antitrypsin deficiency, glycogen storage disease, lysosomal storage diseases, infant PKD

74
Q

What is the affected tissue in osteogenesis imperfecta?

A

Bones

74
Q

What is cystic fibrosis?

A

Autosomal-recessive defect in CFTR gene on chromosome 7 (commonly deletion of Phe508).

75
Q

What is the affected tissue in familial hypercholesterolemia?

A

Cardiovascular system

75
Q

What is the most common LETHAL genetic disease of caucasians?

A

Cystic fibrosis

76
Q

What is the affected tissue in adult polycystic kidney disease?

A

Kidney

76
Q

What is the function of CFTR channel?

A

actively secretes Cl- in lungs and GI tract, actively reabsorbs Cl- from sweat

77
Q

What is the affected tissue in Wilm’s tumor ?

A

Kidney

77
Q

What happens due to a defect in CFTR gene?

A

Cl- ion dysfunctional => secretions become more viscous

78
Q

What is the affected tissue in spherocytosis?

A

Hematopoietic system

78
Q

What causes infertility in males with cystic fibrosis?

A

Bilateral ABSENCE of vas deferens

79
Q

What is the affected tissue in familial polyposis coli?

A

GI system

79
Q

What vitamins are often deficient in cystic fibrosis patients?

A

fat soluble (ADEK)

80
Q

What is the affected tissue in Huntingtons disease?

A

Nervous system

80
Q

How do vitamin deficiencies present in infants with cystic fibrosis?

A

As failure to thrive

81
Q

What is the affected tissue in neurofibromatosis?

A

Nervous system

81
Q

Treatment for cystic fibrosis?

A

N-acetylcysteine to loosen mucous plugs (found in glutathione)

82
Q

Characteristics of marfan’s syndrome?

A

list slide 37

82
Q

Pathogenesis of cystic fibrosis?

A

Defective Cl- channel -> secretion of abnormally thick mucus -> plugs lungs, pancreas, and liver -> recurrent pulmonary infections/chronic bronchitis, bronchiectasis, pancreatic insufficiency

83
Q

Inheritance of marfan’s syndrome?

A

Autosomal dominant

83
Q

What does cystic fibrosis cause in infants?

A

Meconium ileus

84
Q

Basic molecular defect in marfan’s syndrome?

A

Mutations in gene encoding glycoprotein FIBRILLIN-1 (FBN1)

84
Q

What is a diagnostic test for cystic fibrosis?

A

High concentration of Cl- ions in SWEAT TEST

85
Q

What does fbn1 do?

A

Helps anchor cells to ECM

85
Q

What is the common cause of cystic fibrosis?

A

Three-base deletion - usually Phe508

86
Q

What are the principle structural defects involved in marfans syndrome?

A

Cardiovascular, musculoskeletal, and ocular systems

86
Q

Is cystic fibrosis a frameshift mutation?

A

NO (deletion is a multiple of 3)

87
Q

How is marfan’s syndrome typically recognized?

A

Combination of long limbs, aortic root dilation, and dislocated lenses

87
Q

What is sickle cell anemia?

A

Chronic hemolytic anemia occuring almost exclusively in African Americans

88
Q

What is the most common and best known type of short limbed dwarfism?

A

Achondroplastic dwarfism

88
Q

What causes sickle cell anemia?

A

homozygous inheritance of Hb S

89
Q

Signs and symptoms of achondroplastic dwarfism?

A

Bulky forehead, saddle nose, exaggerated lumbar lordosis, bowlegs

89
Q

What does sickle cell anemia cause?

A

sickle shaped RBCs - clog capillaries, causing organ ischemia

90
Q

Defective gene product of achondroplastic dwarfism?

A

Fibroblast growth factor (FGF) receptor 3

90
Q

What may develop frequently with sickle cell anemia?

A

Acute pain (crises)

91
Q

Inheritance of achondroplastic dwarfism?

A

Autosomal dominant

91
Q

What can develop acutely and be fatal in sickle cell anemia?

A

Infection, bone marrow aplasia, lung involvement

92
Q

What is osteogenesis imperfecta?

A

Hereditary collagen disorder causing diffuse abnormal fragility of bone

92
Q

Pathophysiology of sickle cell anemia?

A

In Hb S, VALINE is substituted for GLUTAMIC ACID in the 6TH AMINO ACID of the BETA CHAIN

93
Q

Four main types of OI?

A

I, II, III, IV

93
Q

Why does Hb S cause RBCs to deform in sickle shape?

A

Less soluble than HbA, forms semisolid gel at sites of low PO2

94
Q

Which types of OI are autosomal dominant?

A

Type I and IV

94
Q

How do deformed RBCs lead to infarction?

A

adhere to vascular endothelium and plug small arterioles/capillaries

95
Q

Which types of OI are autosomal recessive?

A

Types II and III

95
Q

What does venous plugging predispose to?

A

Thromboses

96
Q

How often is hearing loss present in OI patients and in what types?

A

50-65%

May occur in ALL FOUR TYPES

96
Q

What does mechanical trauma of circulation produce in sickle cell anemia?

A

Hemolysis

97
Q

What is the mildest form of OI?

A

Type 1

97
Q

What deforms the bones in sickle cell anemia?

A

Chronic compensatory marrow hyperactivity

98
Q

Signs and symptoms of type I OI?

A

Blue sclerae, musculoskeletal pain due to jt hypermobility

Possible recurrent fractures in childhood

98
Q

What is a point mutation?

A

single base pair change in DNA

99
Q

What is the most severe and LETHAL type of OI?

A

Type II

99
Q

What are lysosomal storage diseases?

A

category of many diseases each caused by a specific deficiency in one of many lysosomal enzymes

100
Q

Signs/symptoms of type II OI?

A

Multiple congenital fractures, blue sclerae, soft skull (feels like “bag of bones”)

100
Q

Two categories of lysosomal storage diseases?

A

Sphingolipidoses and mucopolysaccharidoses

101
Q

Two examples of sphingolipidoses?

A

Niemann-Pick disease, Tay-Sachs disease

102
Q

Two examples of mucopolysaccharidoses?

A

Hurler’s syndrome, Hunter’s syndrome (not autosomal recessive - X linked disease)

103
Q

What is the affected enzyme affected in Niemann-Pick disease?

A

Sphingomyelinase

104
Q

What is the affected enzyme affected in Tay-Sachs disease?

A

Hexosaminidase A

105
Q

What is the inheritance pattern for Niemann-Pick disease?

A

Autosomal recessive

106
Q

What is the inheritance pattern for Tay-Sachs disease?

A

Autosomal recessive

107
Q

What is the inheritance pattern for Hurler’s syndrome?

A

Autosomal recessive

108
Q

What is the inheritance pattern for Hunter’s syndrome?

A

X-linked recessive

109
Q

What does microscopic view of Tay Sachs disease show?

A

swollen and vacuolated neural system, myelin figures composed of concentric membranes

110
Q

Why is the neural system swollen and vacuolated in Tay Sachs disease?

A

Due to increased # of lipid rich lysosomes

111
Q

Does Tay Sachs disease involve a frameshift mutation?

A

YES - four base insertion

112
Q

What is a common ethnic group affected by Tay Sachs?

A

Ashkenazi Jews

113
Q

How do hepatocytes and Kupffer cells appear microscopically with Niemann-Pick disease?

A

Foamy vacuolated appearance due to deposition of lipids

114
Q

What is inheritance pattern of phenylketonuria (PKU)?

A

Autosomal recessive

115
Q

What ethnicities are most commonly affected by PKU?

A

White populations

116
Q

Incidence of PKU?

A

1/10,000 births among whites

117
Q

What normally converts excess dietary phenylalanine to TYROSINE?

A

Phenylalanine hydroxylase

118
Q

What is the essential cofactor for phenylalanine hydroxylase?

A

tetrahydrobioperitin (BH4)

119
Q

What happens if gene mutation results in deficiency/absence of phenylalanine hydroxylase, and what organ is most affected?

A

Dietary phenylalanine accumulates - BRAIN is main organ affected

120
Q

What happens to excess phenylalanine?

A

Metabolized to phenylketones, which are excreted in urine

121
Q

What is the normal cascade of phenylalanine?

A

Phenylalanine -> tyrosine -> dopa -> dopamine -> NE -> epinephrine

122
Q

PKU is a clinical syndrome of what?

A

mental retardation

123
Q

What causes mental retardation in PKU?

A

elevated serum phenylalanine

124
Q

Other findings in PKU?

A

growth retardation, fair skin, eczema, musty body odor

125
Q

Primary cause of PKU?

A

deficient phenylalanine hydroxylase activity

126
Q

Another cause of PKU?

A

decreased tetrahydrobiopterin cofactor

127
Q

How is PKU diagnosed?

A

By detecting high phenyalanine levels and normal or low tyrosine levels

128
Q

Is PKU screened for at birth?

A

YES - heel prick

129
Q

What are the phenylketones produced in PKU?

A

Phenylacetate, phenyllactate, and phenylpyruvate

130
Q

Why is there a characteristic musty body odor with PKU?

A

disorder of AROMATIC amino acid

131
Q

Tx for PKU?

A

lifelong dietary PHENYLALANINE restriction and increased TYROSINE in diet

132
Q

Prognosis for PKU?

A

excellent with treatment

133
Q

Glycogen storage disease (GSD) type 1 - enzyme deficiency?

A

glucose-6-phosphate

134
Q

GSD type 2 - enzyme deficiency?

A

acid maltase

135
Q

GSD type 3 - enzyme deficiency?

A

glycogen debrancher

136
Q

GSD type 5 - enzyme deficiency?

A

MUSCLE glycogen phosphorylase

137
Q

GSD type 6 - enzyme deficiency?

A

LIVER glycogen phosphorylase

138
Q

GSD type 1 - eponym?

A

von Gierke’s disease

139
Q

GSD type 2 - eponym?

A

Pompe’s disease

140
Q

GSD type 3 - eponym?

A

Cori’s disease or Forbe’s disease

141
Q

GSD type 5 - eponym?

A

McArdle disease

142
Q

GSD type 6 - eponym?

A

Hers’ disease

143
Q

Findings in von Gierke’s disease?

A

severe FASTING HYPOGLYCEMIA, increase glycogen in liver, increased blood lactate, HEPATOMEGALY

144
Q

Findings in Pompe’s disease?

A

CARDIOMEGALY and systemic findings leading to early death (heart, liver and muscle)

145
Q

Findings in Cori’s disease?

A

Milder form of type 1 with normal blood lactate levels. Gluconeogenesis is INTACT

146
Q

Findings in McArdle disease?

A

Increased glycogen in MUSCLE, but cannot break it down => painful muscle cramps, myoglobinuria w/ strenuous exercise

147
Q

What does Pompe disease look like microscopically?

A

Myocardial fibers full of glycogen seen as clear spaces

148
Q

What is the chance of sons of heterozygous mothers will be affected with X-linked recessive disorders?

A

50% chance

149
Q

Is there male-to-male transmission of X linked recessive disorders?

A

NO

150
Q

In which sex are X linked recessive disorders more severe?

A

MALES

151
Q

Will heterozygous females be affected with X linked recessive disorders?

A

Can be

152
Q

When will females show phenotype of x linked recessive disorders?

A

Homozygous females

153
Q

What are the X linked recessive disorders?

A

Bruton’s agammaglobulinemia, Wiskott-Alrich syndrome, Immunodeficiency, FragileX, Lymphoproliferative disorders, G6PD deficiency, Ocular albinism, Lesch-Nyhan syndrome, Dystrophies (Duchenne’s MD, Becker’s MD), Hemophilia A and B, Fabry’s disease, Hunter’s syndrome

154
Q

Mnemonic to remember X linked recessive disorders?

A

Be Wise, FooL’s GOLD Heeds False Hope

155
Q

What is Fragile X syndrome?

A

X linked defect affecting the methylation and expression of FMR1 gene

156
Q

What is the mutation in Fragile X syndrome?

A

CGG triple nucleotide repeat

157
Q

What is the 2nd most common genetic mental retardation?

A

Fragile X syndrome

158
Q

What is the most common mental retardation in MALES?

A

Fragile X syndrome

159
Q

Clinical signs of Fragile X syndrome?

A

macro-orchidism, long face w/ large jaw, large everted ears, autism

160
Q

What is Glucose-6-phosphate dehydrogenase deficiency?

A

X linked recessive disorder

161
Q

What race is more likely to have G6PD deficiency and why?

A

African Americans. Increased malarial resistance

162
Q

What is G6PD?

A

Rate limiting enzyme in HMP shunt (which yields NADPH)

163
Q

What does decreased NADPH lead to?

A

hemolytic anemia, due to poor RBC defense agains oxidizing agents and antituberculosis drugs

164
Q

What are Heinz bodies?

A

altered hemoglobin precipitates within RBCs - seen in G6PD deficiency

165
Q

What are bite cells?

A

Result of phagocytic removal of Heinz bodies from macrophages

166
Q

What is SCID?

A

severe combined immunodeficiency (aka bubble boy syndrome!)

167
Q

Prevalence of SCID?

A

1 in 100,000 births

168
Q

What populations have a higher incidence of SCID?

A

Australia and Navajo population

169
Q

Which cell divisions are nonfunctional in SCID?

A

B cell AND T cell divisions of adaptive immune system

170
Q

What are the 2 most common types of SCID?

A

X linked SCID (most common) and adenosine deaminase deficiency (2nd)

171
Q

What is X-SCID due to?

A

X linked mutation

172
Q

What percentage of SCID cases are X linked?

A

46-70%

173
Q

What is the functionally defective gene in X-SCID?

A

IL 2 receptor which promotes lympocyte growth and differentiation

174
Q

When is X-SCID fatal?

A

Usually in the first years of life

175
Q

What is candidiasis?

A

thrush

176
Q

When is candidiasis seen?

A

in X-SCID - can involve many body areas. More commonly seen with AIDS

177
Q

What is Lesch-Nyhan syndrom?

A

X linked recessive disorder - purine salvage deficiency

178
Q

What is Lesch-Nyhan syndrome due to?

A

absence of HGPRT, which converts hypoxanthine to IMP and guanine to GMP

179
Q

What does Lesch-Nyhan syndrome result in?

A

excess uric acid production

180
Q

Findings in Lesch-Nyhan syndrome?

A

retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis

181
Q

What is adenosine deaminase deficiency?

A

AUTOSOMAL RECESSIVE disorder - purine salvage deficiency, etiology for SCID

182
Q

What percentage of SCID cases are due to adenosine deaminase deficiency?

A

15%

183
Q

What was the first disease to be treated by experimental human gene therapy?

A

adenosine deaminase deficiency

184
Q

What do excess ATP and dATP imbalances do to DNA synthesis, and what does this cause?

A

PREVENTS DNA synthesis => decreases lymphocyte count

185
Q

What determines the age of onset and severity of adenosine deaminase deficiency?

A

Depends on 29+ genotypes

186
Q

What is Duchenne’s muscular dystrophy?

A

X linked recessive disease

187
Q

What is Becker’s muscular dystrophy?

A

X linked recessive disease

188
Q

What do DMD and BMD result from?

A

Mutation in DYSTROPHIN gene

189
Q

Which is more severe - DMD or BMD?

A

DMD - NO FUNCTIONAL DYSTROPHIN IS PRODUCED

190
Q

What does insufficient dystrophin result in?

A

instability in structure of muscle cell membrane -> accelerates muscle breakdown

191
Q

Multifactorial inheritance traits/processes?

A

Height, intelligence, BP, metabolism, development

192
Q

Multifactorial inheritance diseases?

A

dwarfism, mental retardation, hypertension, diabetes mellitus, gout, anencephaly, cleft lip/palate

193
Q

What type of inheritance is DM type 2?

A

MULTIFACTORIAL

194
Q

Incidence of DM type 2?

A

50% of affected persons have relatives w/ diabetes

195
Q

Which populations have high incidence of DM type 2?

A

Populations w/ high rate of intermarriage (ex. Pima Indians)

196
Q

Is there high concordance of DM type 2 among monozygotic twins?

A

YES

197
Q

How are X linked dominant traits inherited?

A

Through both parents

198
Q

Which sex is affected with X linked dominant trait from affected MOTHER?

A

BOTH sexes MAY be affected

199
Q

Which sex is affected with X linked dominant trait from affected FATHER?

A

ALL FEMALE OFFSPRING ARE AFFECTED

200
Q

Examples of X linked dominant disorders?

A

Factor VIII (hemophilia A), Factor IX (hemophilia B), hypophosphatemic rickets

201
Q

3 causes of prematurity?

A

Maternal factors (alcohol, smoking) Fetal factors (congenital abnormalities) Placental factors (location, viability)

202
Q

What causes Neonatal Respiratory Distress Syndrome?

A

immature type II pneumocytes - surfactant deficiency

203
Q

What does NRDS cause?

A

atelectasis, alveolar and endothelial injury of lungs.

204
Q

Where does NRDS cause hypoxia?

A

hyaline membranes around alveoli

205
Q

Complications from NRDS?

A

cerebral intraventricular hemorrhage, hemorrhagic intestinal necrosis

206
Q

Possible types of birth injury? (5)

A

Mechanical trauma, skull fractures, intracranial hemorrhage, peripheral nerve injury, fractures of long bones of extremities

207
Q

What causes Sudden Infant Death Syndrome?

A

Unknown

208
Q

What is the most common cause of death in infants beyond immediate neonatal period?

A

SIDS

Pathology 1 (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions