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General Pathology > Class 8 > Flashcards

Class 8 Flashcards

1
Q

Organogenesis

Normal Embryonic Development

A

Cell division, organ development

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2
Q

What are teratogens

Normal Embryonic Development

A

Cause of fetal abnormalities

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3
Q

M/C Teratogen

A

Unknown

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4
Q

Physical Teratogen Examples

Exogenous Teratogens

A

Physical: X-rays, Radiation
Chemical: Alcohol

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5
Q

What is FAS

Exogenous Teratogens

A

Syndrome caused by alcohol
Affects brain development

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6
Q

How can Microbial Teratogens affect fetus indirectly

Exogenous Teratogens

A

Weakening/exhausting of mother causing decrease in fetus development

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7
Q

What is TORCH and what does it stand for?

Exogenous Teratogens

A

Human pathogens that are noxious to fetus.
Toxoplasma
Other
Rubella
Cytomegalovirus
Herpes Simplex

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8
Q

How does Rubella affect fetus

TORCH

A

Small brain, heart defects, inflamed liver, lungs, lymph nodes

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9
Q

How Toxoplasmosis and CMV affect fetus?

TORCH

A

Brain abnormalities, small eyes w/ cataracts, calcifications

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10
Q

How herpes virus affects fetus?

TORCH

A

skin lesions

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11
Q

Two types of chromosomal abnormalities

Chromosomal abnormalities

A

Structural
Numerical - trisomy (+1) or monosomy (-1)

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12
Q

Chromosomal abnormalities can invole

Chromosomal abnormalities

A

Autosomes
Sex chromosomes

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13
Q

What is Down’s Syndrome associated with

Trisomy 21

A

Three autosome 21
Maternal origin

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14
Q

Symptoms of Down Syndrome

Trisomy 21

A

Hypotonia, Hypermobility, Upper cervical instability

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15
Q

What is more common sex or autosome abnormalities?

Abnormalities of sex chromosomes

A

Sex, less lethal too

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16
Q

Pathogenesis of Turner’s Syndrome

Turner’s Syndrome

A

Missing Y chromosome
Sex organs don’t develop
No puberty, sex characteristics

17
Q

Pathogenesis of Klinefelter’s Syndrome

Klinefelter’s Syndrome

A

Trisomy - 3 sex chromosomes
Male genital organs not developed
No puberty

18
Q

Single gene disorders can be either…

Single-gene disorders

A

Dominant or recessive

19
Q

Human traits can be expressed as what 4 things?

Mendelian Genetics

A

Autosomal Dominant
Autosomal Recessive
Sex-linked recessive
Sex-linked dominant (rare)

20
Q

Autosomal Dominant Diseases covered in class are?

Autosomal Dominant Diseases

A

Marfan’s Syndrome - connective tissue
Familal hypercholesterolemia - Cardiovascular system

21
Q

Which 3 systems does Marfan’s Syndrome primarily affect?

Autosomal Dominant Diseases

A

Skeletal - slender
Cardiovascular - weak
Ocular - abnormalities

22
Q

How does Familial Hypercholesterolemia affect person?

Autosomal Dominant Diseases

A

Higher cholesterol in blood from mutated LDL recepter gene

23
Q

What are Xanthomas

Familial Hypercholesterolemia

A

Lipid rich yellow nodules (phagosytized cholesterol)

24
Q

Autosomal recessive disorders are only expressed when?

Autosomal Recessive Disorders

A

One gene inherited from each parent

25
Q

What is Cystic Fibrosis

Autosomal Recessive Disorders

A

M/c Autosomal Ressessive disorder
Obstruction of organs due to less water in secretions (Lack of NaCl)

26
Q

What is Phenylketonuria (PKU)

Autosomal Recessive Disorders

A

Missing enzyme for metabolizing phenylalanine
Phenylalanine accumulates and converts into phenylpyruvic acid (toxic)

27
Q

What are two X-linked recessive disorders?

X-Linked Recessive Disorders

A

Hemophilia and Muscular Dystrophy
(rarely express in females)

28
Q

What is hemophilia?

X-Linked Recessive Disorders

A

Bleeding disorder - no clotting factors
Need clotting factor infusion

29
Q

What is Muscular Dystrophy?

X-linked Recessive Disorders

A

Abnormal Dystrophin
Muscles break down faster - lowers lifespan

30
Q

What is Multifactorial Inheritance

Multifactorial Inheritance

A

Family diseases not according to Mendelian genetics
Several genes also influenced exogenously

31
Q

What is Anencephaly?

Multifactorial Inheritance

A

Incomplete fusion of midline structures
Brain/spinal cord severe disturbance

32
Q

What could reduce the risk of Anencephaly

Multifactorial Inheritance

A

Folic Acid

33
Q

What is Diabetes Mellitus

Multifactorial Inheritance

A

Metabolism disturbance causing hyperglycemia

34
Q

What is Prenatal Diagnosis used for? What are the four types covered in class?

Prenatal Diagnosis

A

Test for abnormalities
1. Ultrasonic
2. Chorionic Villus biopsy
3. Amniotic fluid analysis
4. Maternal blood analysis

35
Q

What can ultrasonographic examination detect?

Prenatal Diagnosis

A

malformed head, extremities, organs, placenta

36
Q

Chorionic villus biopsy

Prenatal Diagnosis

A

Provide fetal cells for chromosomal analysis/biochemical testing

37
Q

Amniotic fluid analysis

Prenatal Diagnosis

A

Fluid from amniotic sac for chemical/genetic analysis

38
Q

Maternal Blood Analysis

Prenatal Diagnosis

A

High AFP levels common in certan fetal abnormalities

39
Q

Triple Screen Marker test

Maternal Blood Analysis

A

Test for AFP, human chorionic gonadotropin, unconjugated estriol

General Pathology (12 decks)

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