Rheumatology and Genetics Quiz

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Questions and Answers

What is a significant symptom of psoriatic arthritis?

Hyperextension of the spine

Formation of ulcers in the mouth

Synovitis in distal joints (correct)

Erosion of the skin

Which form of arthritis is known to be the most severe?

Arthritis Mutilans (correct)

Osteoarthritis

Reactive Arthritis

Rheumatoid Arthritis

What triggers Raynaud's Syndrome in scleroderma patients?

Cold or stress (correct)

Hormonal changes

Physical activity

Infection

Which of the following is a symptom of Reiter’s Syndrome?

Swollen fingers and toes Signup and view all the answers

What is the most common age range for individuals diagnosed with scleroderma?

30 to 50 Signup and view all the answers

Which symptom is NOT associated with systemic lupus erythematosus (SLE)?

Thickened skin on hands Signup and view all the answers

What is the primary treatment method for managing pain in Reiter’s Syndrome?

Addressing joint problems and muscle weakness Signup and view all the answers

What condition is primarily characterized by an autoimmune response leading to systemic inflammation?

Systemic lupus erythematosus Signup and view all the answers

Which genetic inheritance pattern requires both parents to be carriers for a child to be affected?

Autosomal Recessive Signup and view all the answers

What is the chance of a child inheriting an X-linked recessive disorder if the mother is a carrier?

50% for sons, 50% for daughters Signup and view all the answers

Which of the following is considered a teratogen?

Uncontrolled diabetes Signup and view all the answers

In which gestational period is the fetus most sensitive to major deformities caused by teratogens?

3-8 weeks Signup and view all the answers

What type of chromosomal abnormality involves a portion of a chromosome being transferred to another chromosome?

Translocation Signup and view all the answers

What is the correct statement regarding chromosome abnormalities?

Many chromosomal abnormalities arise from random structural changes. Signup and view all the answers

What characterizes a condition caused by X-linked dominant inheritance?

Only one affected parent can pass the mutated gene. Signup and view all the answers

What is the effect of teratogens on children who were exposed during pregnancy?

They do not pass the defects on to their children. Signup and view all the answers

What is the primary reason carcinoma in situ is usually treated?

It has a high risk of becoming invasive. Signup and view all the answers

What characterizes malignant cells compared to normal host tissue cells?

They are highly vascularized and undifferentiated. Signup and view all the answers

In the seed and soil theory, what are the 'seeds' and 'soils' referring to?

Cancer cells and specific organ tissues. Signup and view all the answers

What is the sentinel lymph node?

The first lymph node cancer cells are likely to spread to. Signup and view all the answers

Which of the following best describes a carcinogen?

A substance capable of causing cancer in living tissues. Signup and view all the answers

What proportion of cancers can be directly linked to chemical exposure?

5% Signup and view all the answers

Which of the following is a factor associated with a significant percentage of all human cancers?

Dietary habits. Signup and view all the answers

Genotoxic agents can cause what type of damage to DNA?

Irreversible genetic damage or mutations. Signup and view all the answers

What is the main purpose of chemotherapy?

To stop or slow the growth of cancer cells Signup and view all the answers

Which term describes chemotherapy used to shrink a tumor prior to surgery?

Neoadjuvant chemotherapy Signup and view all the answers

What is a common side effect of chemotherapy?

Mouth sores and nausea Signup and view all the answers

How does external beam radiation therapy work?

It damages cancer cell DNA with high doses from various angles Signup and view all the answers

What role does targeted therapy play in cancer treatment?

It interferes with specific proteins that promote cancer cell growth Signup and view all the answers

What is a key distinction of internal radiation therapy?

It involves placing a radioactive source inside the body Signup and view all the answers

Which statement about chemotherapy and its effects on healthy cells is correct?

Chemotherapy can also kill or slow the growth of healthy cells Signup and view all the answers

What is the primary goal of adjuvant chemotherapy?

To eliminate cancer cells that could remain after surgery Signup and view all the answers

What is the primary role of macrophages in the innate immune response?

To act as the first line of defense by engulfing invaders. Signup and view all the answers

Which cell type is responsible for coordinating the immune response by activating B cells?

Helper T cells Signup and view all the answers

What triggers the initiation of the acquired immune response?

An ineffective innate immune response Signup and view all the answers

Which statement correctly describes the function of memory T cells?

They improve the response to the same invader on subsequent exposures. Signup and view all the answers

What role do lymphokines play in the immune response?

They help regulate the length and intensity of the immune response. Signup and view all the answers

What happens to most immune cells after an invader has been successfully controlled?

They die off, except memory B and T cells. Signup and view all the answers

What is the function of complement proteins in the adaptive immune response?

They amplify the immune response and aid in clearing pathogens. Signup and view all the answers

Which of the following correctly describes the role of dendritic cells in the immune system?

They signal Helper T cells and present antigens to other immune cells. Signup and view all the answers

Study Notes

Aorta Issues

Biologics can be used to treat problems with the aorta.
Biologics are expensive, costing between $10,000 and $30,000 per year.

Psoriatic Arthritis

Psoriatic arthritis is a chronic inflammatory disease that affects joints and skin.
The condition is seronegative, meaning it does not show up in blood tests.
Synovitis is a common symptom, primarily affecting the distal joints of the hands and feet.
Other areas that can be affected include the sacroiliac joints and the spine.
The condition is classified into five types.
Rehabilitation focuses on rest strategies, heat therapy, and exercises for affected joints.
Arthritis mutilans is the most severe form of psoriatic arthritis.

Reiter's Syndrome

Reiter's Syndrome disproportionately affects men, with a male-to-female ratio of 25:1.
Most cases occur in individuals between the ages of 30 and 40 (with an average age of 35).
The etiology is unknown, but the syndrome commonly develops 1 to 4 weeks after venereal or intestinal infections.
Synovitis is a prominent symptom, affecting the knees, ankles, and feet.
Connective tissue in the Achilles tendon and plantar fascia can also be affected.
Other symptoms include lower back pain, swollen fingers and toes, rashes, mouth ulcers, urethritis, uveitis, conjunctivitis, and sacroiliitis.
Rehabilitation focuses on addressing pain, joint problems, and muscle weakness.

Scleroderma

Scleroderma is characterized by hardening and tightening of the skin and connective tissues.
The condition can also affect blood vessels, internal organs, and the digestive tract.
Symptoms vary depending on the structures affected.
The condition affects more women than men.
Most cases occur in individuals between the ages of 30 and 50.
There is currently no cure for scleroderma.
Treatments focus on easing symptoms and improving quality of life.
The mild form presents as tightening of the skin on the face and hands, and Raynaud's syndrome.
The severe form can cause scarring in the heart, lungs, kidneys, and esophagus, often leading to mortality.
Lung involvement occurs in approximately 70% of individuals with severe scleroderma.

Systemic Lupus Erythematosus (SLE)

Systemic lupus erythematosus (SLE) is a systemic, chronic autoimmune inflammatory disease that primarily affects collagen.
Common symptoms include painful and swollen joints, fever, chest pain, hair loss, mouth ulcers, swollen lymph nodes, and fatigue.
A red rash commonly appears on the face.
SLE typically involves flare-ups and periods of remission with few symptoms.
Discoid lupus is a form of lupus that only affects the skin, without organ involvement.
Intense inflammation develops in the skin, primarily in sun-exposed areas.
More severe symptoms of SLE include bilateral joint inflammation.
SLE is considered an autosomal dominant disorder, meaning one mutated copy of the gene is necessary for a person to be affected.

Autosomal Dominant Inheritance

Each affected individual typically has one affected parent.
There is a 50% chance of a child inheriting the mutated gene if one parent carries the gene.

Autosomal Recessive Inheritance

Two copies of the mutated gene are necessary for a person to be affected.
Both parents must be carriers or have the disease.
Two unaffected individuals who each carry one copy of the mutated gene have a 25% risk with each pregnancy of having a child affected by the disorder.

X-Linked Dominant Inheritance

Caused by mutations in genes on the X chromosome.
Only a few disorders display this pattern of inheritance.
There is a 50% chance of inheriting the gene if one parent is affected.

X-Linked Recessive Inheritance

Also caused by mutations in genes on the X chromosome.
Males are more frequently affected than females.
Sons of a man with an X-linked recessive disorder will not be affected (they inherit his Y chromosome).
Daughters will be carriers, inheriting one copy of the mutated gene.
A woman who carries the gene has a 50% chance of having affected sons and a 50% chance of having carrier daughters.

Teratogens

Teratogens are non-genetic factors that interfere with normal embryonic and fetal development and morphogenesis.
The fetus is generally more susceptible to major deformities earlier in gestation.
Exposure during the first 2 weeks often results in fetal death (spontaneous miscarriage).
Exposure during weeks 3 to 8 increases the risk of major morphological abnormalities (heart, upper limbs, neurological system).
Exposure during weeks 8 to 36 can lead to functional deficits and minor morphological abnormalities.
Children exposed to teratogens in utero will not pass on the defect to their children.
Teratogenic effects are not genetic conditions.
The four important factors influencing teratogenicity are time, dosage, the genotype of the fetus, and the genotype of the mother.
Common teratogens include alcohol, smoking, drugs, viruses, and uncontrolled diabetes.

Chromosome Abnormalities

While some types of chromosomal abnormalities are inherited, most are not.
Many are due to a random structural abnormality in a chromosome.
Deletion: A portion of the chromosome is missing.
Translocation: A portion of one chromosome is transferred to another chromosome.
Inversion: A portion is broken off, flipped over, and reattached.
Duplication: A portion is duplicated, resulting in extra genetic material.

Carcinoma In Situ

Carcinoma in situ typically requires treatment due to its high risk of progression to cancer.

Malignancy

Malignant cells are not self-limited in their growth.
They are capable of invading adjacent tissues and may spread to distant tissues.
Spread can occur through the bloodstream, lymph system, or seeding.
Malignant cells do not resemble the host tissue cells and are "undifferentiated".
Malignant cells appear irregular, are not encapsulated, are invasive, and uncontrolled.
They are highly vascularized and prone to recurrence.
Malignancy typically ends in "sarcoma" or "carcinoma" depending on the originating embryonic layer.

Metastasis

Metastasis is the spread of cancer cells to other organs.
The original organ of origin determines the cancer name (e.g., melanoma metastasizing to the liver remains melanoma).
There are common metastatic patterns.
Certain types of cancer cells require specific tissue conditions to proliferate (seed and soil theory).
Metastasis occurs through the circulatory or lymph systems.

Angiogenesis

Angiogenesis is the growth of new blood vessels as cancer cells develop their own blood supply.
This process supports the rapid growth rate and high metabolic needs of cancer cells.
Cancer cells mutate to produce angiogenic activators that attract capillary growth.

Sentinel Lymph Node

The sentinel lymph node is the first lymph node cancer cells are most likely to spread to.
It is often examined through biopsy.

Carcinogen

A carcinogen is a substance capable of causing cancer in living tissues.
A variety of factors can disrupt normal cell growth and division.
Internal factors include heredity, immunology, and hormones.
External factors encompass chemicals, viruses, diet, and radiation.
Only 5% of cancers are linked to chemical exposure.
Major causes of cancer include lifestyle factors such as diet, cigarette smoke, alcohol, and sun exposure.
Dietary factors are associated with 35% of all human cancers.
Cigarette smoke is linked to another 30% of cancers.
Carcinogens can be categorized as genotoxic or non-genotoxic.

Genotoxins

Genotoxins cause irreversible genetic damage or mutations by binding to DNA.
They include chemical agents and non-chemical agents like ultraviolet light and ionizing radiation.

Chemotherapy

Chemotherapy works by stopping or slowing the growth of cancer cells.
It can be administered orally, intravenously, through injections, intrathecally, intraperitoneally, intra-arterially, or topically.
Chemotherapy can be used:
- to shrink tumors before surgery or radiation therapy (neoadjuvant chemotherapy).
- to destroy cancer cells remaining after surgery or radiation (adjuvant chemotherapy).
- to enhance the effectiveness of other treatments.
- to kill cancer cells that have returned or spread (metastasis).
Chemotherapy can also kill or slow the growth of healthy cells, leading to side effects such as mouth sores, nausea, and hair loss.
Fatigue or exhaustion is the most common side effect.

Radiation Therapy (RT)

Radiation therapy (RT) is used to treat cancer and alleviate cancer symptoms (curative or palliative).
At high doses, RT kills cancer cells or slows their growth by damaging their DNA.
Cancer cells with irreparable DNA damage stop dividing or die.
It takes days or weeks of treatment to cause enough DNA damage for cancer cells to die.

External Beam Radiation Therapy

External beam radiation therapy directs radiation towards the cancer.
The machine does not touch the patient but can move around them, delivering radiation from multiple directions.
External beam radiation is a local treatment, meaning it targets a specific part of the body.

Internal Radiation Therapy

Internal radiation therapy involves placing a radiation source inside the body (solid or liquid).

Targeted Therapy

Targeted therapy focuses on changes in cancer cells that promote their growth, division, and spread.
Most targeted therapies interfere with specific proteins that aid tumor growth and spread.
Some targeted therapies:
- help the immune system destroy cancer cells by marking them for immune system identification.
- stop cancer cells from growing by interfering with proteins on the cell surface that stimulate division.
- deliver cell-killing substances to cancer cells by combining monoclonal antibodies with toxins, chemotherapy drugs, and radiation.

Immune Response

The immune response involves a series of steps, starting with pathogen recognition by innate immune system cells.
This recognition triggers cytokine release, complement activation, and phagocytosis of antigens.
The innate immune system initiates an acute inflammatory response.
If the innate immune response cannot control the pathogen, the acquired immune response is activated.
Antigen presentation occurs, activating specific T helper cells.
Helper T cells coordinate a targeted antigen-specific immune response involving two adaptive cell systems:
- Humoral immunity from B cells and antibodies.
- Cell-mediated immunity from cytotoxic T cells.

Cells Involved in the Immune Response

Macrophages are the first responders, engulfing invaders and signaling for neutrophils if additional help is needed.
Neutrophils are highly active cells that kill everything in sight, even healthy tissue.
Dendritic cells break down invaders and present the antigen to other white blood cells (WBCs). They signal the type of invasion (bacteria, virus, etc.) and activate helper T cells by traveling to lymph nodes.
T cells act as directors of the immune response.
- Some become cytotoxic T cells that kill invaders.
- Some become memory T cells to improve future responses to the same invader (immunity).
- Some become helper T cells that travel to lymph nodes to activate and stimulate B cells to produce antibodies.
Helper T cells regulate the immune response through cytokine release.
- Some cytokines inhibit action, while others enhance the activities of other cells and cytokines.
Memory T cells and memory B cells persist after the invader has been controlled, creating immunity against future exposures to the same antigen.

Chemical Messengers of the Immune System

The chemical messengers of the immune system are lymphokines, which are a type of cytokine.
Lymphokines are produced by lymphocytes to signal other WBCs.
They are released by sensitive lymphocytes in contact with specific antigens.
Lymphokines affect cellular immunity by stimulating the activity of monocytes and macrophages.
They regulate the length and intensity of the immune response.

Complement

Complement is part of the adaptive immune system.
Liver-produced proteins respond to pathogens by amplifying the immune response.
Complement improves the ability of antibodies and phagocytic cells to clear pathogens from the body.

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Description

Test your knowledge on various autoimmune disorders and genetics in this quiz. Questions cover symptoms of conditions like psoriatic arthritis and Reiter’s Syndrome, as well as genetic inheritance patterns. Delve into important concepts related to scleroderma and the impact of teratogens on fetal development.