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Questions and Answers

Define congenital disease.

Congenital disease is a condition that is present at birth.

What does TORCH complex stand for?

TORCH complex stands for Toxoplasmosis, Other agents (e.g., syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus, and Herpes simplex virus.

Define nondisjunction.

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division.

What is monosomy?

Monosomy is a chromosomal abnormality characterized by the presence of only one copy of a particular chromosome in a diploid cell. Signup and view all the answers

What is trisomy?

Trisomy is a chromosomal abnormality characterized by the presence of an extra chromosome, resulting in three copies of a particular chromosome in a diploid cell. Signup and view all the answers

Define mutation.

Mutation is a permanent change in the DNA sequence of a gene. Signup and view all the answers

What is anencephaly?

Anencephaly is a serious birth defect in which a baby is born without parts of the brain and skull. Signup and view all the answers

Define spina bifida.

Spina bifida is a neural tube defect that occurs when the spine and spinal cord do not form properly. Signup and view all the answers

List two manifestations of Down syndrome.

Two manifestations of Down syndrome are intellectual disability and characteristic facial features. Signup and view all the answers

What chromosomal abnormality causes Down syndrome?

Down syndrome is caused by trisomy of the 21st chromosome. Signup and view all the answers

What is the most important cell in the acute inflammatory process?

Neutrophil Signup and view all the answers

What causes the inflammatory response?

The inflammatory response is caused by a series of biochemical and cellular events triggered by tissue injury or infection. Signup and view all the answers

What cell releases histamine and what is the effect of histamine?

Mast cells release histamine. The effect of histamine includes increased vascular permeability, smooth muscle contraction, and vasodilation. Signup and view all the answers

What is the benefit of creating memory cells during the immune response?

Memory cells provide long-term immunity by recognizing and responding more effectively to previously encountered pathogens. Signup and view all the answers

Study Notes

Congenital Diseases and Chromosomal Abnormalities

Congenital disease: a disease or condition that is present at birth
TORCH complex: a group of viruses that can cause birth defects, including Toxoplasma, Rubella, Cytomegalovirus, and Herpes
Nondisjunction: a failure of homologous chromosomes or sister chromatids to separate properly during cell division
Monosomy: a chromosomal abnormality in which there is a missing chromosome
Trisomy: a chromosomal abnormality in which there is an extra chromosome
Deletion: a chromosomal abnormality in which a segment of DNA is missing
Mutation: a change in the DNA sequence of an organism
Anencephaly: a birth defect in which a major portion of the brain, skull, or scalp is missing
Spina bifida: a birth defect in which the spine fails to close properly during fetal development

Factors that Induce Congenital Malformations

Genetic factors
Environmental factors
Infections
Radiation
Maternal health

Hereditary (Genetic) Diseases

Result from changes in the DNA sequence of an individual
Can be inherited from parents

Chromosomal Abnormalities

Turner syndrome: 45,X (only one X chromosome)
Triple X syndrome: 47,XXX (three X chromosomes)
Klinefelter syndrome: 47,XXY (two X chromosomes and one Y chromosome)

Down Syndrome

Caused by an extra copy of chromosome 21 (trisomy 21)
Manifestations:
- Intellectual disability
- Delayed speech and language development

Inheritance Patterns

Autosomal dominant: a single copy of the mutated gene is enough to cause the disease
Autosomal recessive: two copies of the mutated gene are needed to cause the disease
X-linked: the mutated gene is located on the X chromosome

Chorionic Villi Sampling (CVS)

Advantages over amniocentesis:
- Can be performed earlier in pregnancy
- Faster results
Disadvantages:
- Carry a small risk of miscarriage
- May not detect all chromosomal abnormalities

Inflammation and Immune Response

Inflammation: a response to tissue injury or infection, characterized by heat, pain, redness, swelling, and loss of function
Innate immunity: the first line of defense against infection
Serous exudate: a clear, protein-rich fluid that accumulates in response to inflammation
Fibrinous exudate: a thick, protein-rich fluid that accumulates in response to inflammation
Purulent exudate: a thick, yellowish fluid that accumulates in response to bacterial infection
Hemorrhagic exudate: a fluid that accumulates in response to bleeding
Adhesions: fibrous bands that form between tissues in response to inflammation
Pathogenic: capable of causing disease
Virulence: the ability of a microorganism to cause disease
Host: an organism that provides a habitat for a microorganism
Infection: the invasion of the body by a microorganism
Cellulitis: inflammation of the skin and subcutaneous tissues
Abscess: a localized collection of pus in response to infection
Septicemia: a systemic infection of the blood

Characteristics of Inflammation

Rubor (redness)
Calor (heat)
Tumor (swelling)
Odor (pain)
Functio laesa (loss of function)

Acute Inflammatory Response

Most important cell: neutrophil
Caused by the release of chemical mediators from damaged tissues
Cell that releases histamine: mast cell
Effect of histamine: increased blood flow and permeability

Chronic Inflammatory Response

Main cells involved: macrophages, lymphocytes, and plasma cells

Autoimmune Diseases and Hypersensitivity

Autoimmune disease: a condition in which the immune system attacks the body's own tissues
Hypersensitivity: an exaggerated response to an antigen
Allergen: a substance that causes an allergic reaction
Autoantibody: an antibody that attacks the body's own tissues

Natural Killer (NK) Cells

Characteristics:
- Do not require prior exposure to an antigen to be activated
- Can recognize and kill infected cells or tumor cells
- Play a role in innate immunity

Memory Cells and Immune Response

Benefit: provides long-term immunity to specific antigens
Event 1: entry of a foreign antigen into the body
Event 2: activation of immune cells (e.g. T cells, B cells)
Event 3: elimination of the antigen from the body

Function of Immunoglobulins

IgM: found in respiratory and GI tract secretions, preventing absorption
IgG: main antibody formed in response to most infectious agents
IgA: very efficient in combining with fungi
IgE: normally found only in trace amounts in blood, but concentration is greatly increased in allergic individuals
IgD: found on the surface of B cells, helps activate immune response

Functions of Cytotoxic T Cells

Recognize and kill infected cells or tumor cells
Produce chemical mediators that attract other immune cells
Activate other immune cells (e.g. macrophages)

Functions of Complement

Helps eliminate pathogens from the body
Marks pathogens for destruction by other immune cells
Activates other immune cells (e.g. neutrophils, macrophages)

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