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Pathology > Introduction to Pathology > Flashcards

Introduction to Pathology Flashcards

1
Q

Health

A

Complete physical, mental and social well being

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2
Q

Disease

A

A condition in which the presence of an abnormality causes a loss of normal health.

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3
Q

Etiology

A

the cause of the disease

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4
Q

Pathology

A

structural and functional abnormalities that are expressed as diseases

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5
Q

Pathogenesis

A

How the etiologic agents causes a disease

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6
Q

Lesions

A

A structural abnormality responsible or as a result of ill health

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7
Q

Symptom vs sign

A

Symptom - what the patient complains e.g. pain
Sign - what a doctor detects on examination e.g. irregular heart beat

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8
Q

Inflammation

A

Redness, swelling, pain, heat, loss of function

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9
Q

Prognosis

A

The prospect of recovery / survival from a disease
AKA the outcome

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10
Q

Epidemiology

A

A study of causes, distribution and control of a disease in a population

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11
Q

Syndrome

A

A disease characterised by multiple abnormalities

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12
Q

What are the characteristics of a disease?

A
  1. Etiology
  2. Pathogenesis
  3. Manifestation
  4. Complications
  5. Prognosis
  6. Diagnosis
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13
Q

Characteristics of a disease - Etiology

A

cause of a disease
- genetic (abnormalities of the genome)
- environmental (physical, chemical, nutritional, microbial, immunological, psychogenic)
- multifactorial (combination of both)

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14
Q

Characteristics of a disease - Pathogenesis

A

the development of the disease - mechanism

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15
Q

Characteristics of a disease - Manifestation

A

Manifestation = morphological, functional and clinical changes (signs + symptoms)

Morphological - structural changes e.g, lesions

Clinical manifestation - functional consequences
- symptoms

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16
Q

Characteristics of a disease - Complications

A

Secondary effects:
- infection spreading to other organs
- metastasis
- long lasting damage e.g. nervous damage -> paralysis and behavioural changes

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17
Q

Characteristics of a disease - prognosis

A

Good = little/no lasting effects
Bad = detrimental effects as a consequence

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18
Q

Characteristics of a disease - diagonsis

A

Through signs and symptoms and lab investigations

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19
Q

What are the classifications of diseases?

A
  1. Causative agents e.g. infectious (bacterial), genetic or nutritional (kwashiorkor)
  2. Inflammatory / Degenerative / Neoplastic
  3. Acute / Chronic
  4. Systems involved
  5. Congenital / Acquired
  6. Primary / Secondary causes
  7. Benign / Malignant
  8. Mild / Moderate / Severe
20
Q

Prevalence rate

A

Total number of patients (old and new) in the population / the number of individuals in the population at a given time

21
Q

Incidence rate

A

Total number of new cases reported in a specific period / size of population at risk

22
Q

Mortality rate

A

total number of death / total number of people in the population, per unit time

23
Q

What is a congenital disease?

A

The disease is present at the time of birth.

24
Q

Types of congenital disease

A

Can be genetic / non-genetic causes

25
Q

Definition [1] and causes of non-genetic congenital diseases [2]

A

When the parents do not have an genetic problems but the child is born with the abnormality – something goes wrong when the fetus is in the womb

Causes:
1. TORCH complex
2. Iatrogenic

26
Q

Non-genetic congenital causes of disease - TORCH complex

A
  1. TORCH complex (refers to a complex of similar abnormalities produced by fetal / neonatal infection)
    e.g. Toxoplasma - exposure to cat faeces, undercooked contaminated meat or mother-to-child transmission during pregnancy
    rubella and herpes simplex virus

Intrauterine infections by the rubella virus can cause cardiac, cerebral, ophthalmic and auditory defects in the fetus.

27
Q

Non-genetic congenital causes of disease - Iatrogenic

A
  1. Fetal alcohol syndrome -
    Babies exposed to alcohol in the womb are more prone to problems e.g. poor growth, small sunken eyes, depressed nose, learning disorders and behavioural problems
  2. Drugs: thalidomide
    It’s use in pregnancy causes birth defects
28
Q

When are fetuses most susceptible to congenital diseases.

A

Weeks 5-8 of gestation - development of major organ systems
During this time, the embryo is extremely susceptible to the effects of teratogens (substance that may lead to birth defects)

29
Q

Diseases caused by chromosomal abnormalities

A

Deletion, Inversion and translocation
Any deviation from the norm has the potential to cause disease

30
Q

Deletion

A

A mutation in which a part of a chromosome / sequence of DNA is lost during DNA replication.
Deletions that do not occur in multiples of three bases cause a frameshift by changing the 3-nucleotide protein reading frame of the genetic sequence.

example - cri du chat syndrome (5p-)

31
Q

Inversion

A

A chromosome rearrangement in which a segment of a chromosome is reversed end to end.
Occurs when a single chromosome undergoes breakage and rearrangement within itself

most common inversion = chromosome 9 - usually no harmful effects

32
Q

Translocation

A

Chromosome abnormality caused by rearrangements of parts between nonhomologous chromosomes
- balance (even exchange of material with no genetic information extra or missing, and ideally full functionality)

  • or unbalanced (unequal exchange of material resulting in extra or missing genes)

Example - 5q syndrome

33
Q

Diseases due to mutations in genes

A

Inherited defective genes
Mitochondrial inheritance
Acquired defective gene

34
Q

Inherited defective genes

A

Monogenic (caused my a mutation in a single gene) e.g. cystic fibrosis & sickle cell anemia

or Polygenic
AKA polygenic inheritance – associated with effects of multiple genes in combination with environmental factors.
Examples include:
- Diabetes, hypertension, atherosclerosis, asthma, autoimmune diseases and cleft lip and palate

35
Q

Mitochondrial inheritance

A

Mediated by mitochondrial genes, which are inherited by maternal transmission.
100% chance that each child in the family will inherit a mitochondrial gene

36
Q

Acquired defective genes

A

After birth e.g. neoplasms (tumors)

37
Q

Sickle Cell Anemia - Etiology & Inheritance

A

Etiology - caused by mutation in a single nucleotide - substitution (A to T) in the codon for amino acid 6
The change converts a glutamic acid codon (GAG) to a valine codon (GTG)

GAG - normal Hb A
GTG - Hbs (form of haemoglobin in a person with sickle cell anemia)

It is an autosomal recessive disorder = in order for full disease symptoms to manifest in an individual they must carry two copies of the HbS gene.

Individuals who are heterozygous have a sickle cell trait. Clinically normal, but their RBCs can sickle under very low oxygen pressure.

38
Q

Modes of Inheritance - of genes

A

Allele – alternative form of a gene that is located at a specific position on a specific chromosome

Homozygous – both genes are the same for that organism is homozygous for the trait

Heterozygous – both genes are different for that organism is heterozygous for that trait

39
Q

Modes of Inheritance - of genetic disorders

A

Autosomal dominant
Autosomal recessive
X-linked recessive

40
Q

Autosomal dominant

A

Only one abnormal copy of the paired gene is required to manifest the disease
e.g. FH, marfans syndrome

41
Q

Autosomal recessive

A

Both copies of the paired gene are required to be abnormal to manifest the disease

if you carry 1 copy of the abnormal gene = carrier

e.g. cystic fibrosis, Ataxia Telangiectasia (AT)

42
Q

X-linked recessive

A

Usually occur in males as they have only one X chromosome

e.g. haemophilia

Females can get an X-linked recessive disorder, but this is very rare.
- the other X compensates but men only have one X chromosome
An abnormal gene on the X chromosome from each parent would be required

43
Q

Diseases caused by abnormal sex chromosomal numbers

A

Turner syndrome (45X)
Klinefelter syndrome (47XXY)

44
Q

Diseases caused by abnormal somatic chromosomal numbers

A

Down syndrome
Caused by the presence of an extra chromosome 21 - trisomy 21

Incidence of down syndrome increases with maternal age

45
Q

Symptoms of down syndrome

A
  • shortening of all parts of the body
  • a wide and flat face with a small nose
  • associations with congenital heart disease
  • increased risk for specific leukemia and immunological deficiencies
  • mental retardation
46
Q

Bacteria causing disease

A

Gram-positive and gram-negative bacteria

Gram positive:

Staphylococcus
Streptococcus
Clostridium
Listeria
Cornybacterium
Nocardia
Mycoplasma

Gram negative:

Salmonella
Shigella
E-coli
Klebsella
Pseudomonas
Neisseria
Hemophilus

47
Q

Viral Pathogenesis
[pathogenesis of diseases caused by viruses]

A

A) Direct cytopathic effect

B) Induction of immune lysis

C) Neoplastic transformation

Pathology (11 decks)

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