Human Pathology and X-linked SCID Overview

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Questions and Answers

Which of the following options are correct for the most common x-linked SCID? (Select all that apply)

  • ZAP-70
  • ADA (correct)
  • PNP
  • Common-gamma chain (correct)
  • BTK

Which of the following enzymes is NOT involved in Phase I biotransformations?

  • All of the previous
  • Alcohol dehydrogenase
  • CYP450
  • UDP glucuronyl-transferase (correct)
  • Acetaldehyde dehydrogenase

Which of the following best defines an oncogene?

  • An oncogene codes for a protein that prevents the cell from undergoing apoptosis.
  • An oncogene is a dominantly expressed mutated gene that gives a cell a growth and survival advantage. (correct)
  • An oncogene codes for a truncated form of a protein that forms part of a signal transduction pathway.
  • An oncogene often codes for a protein with phosphatase activity.
  • An oncogene codes for a cell cycle control protein.

Which of the following statements regarding the alternatively activated (M2) macrophages is NOT correct?

<p>Antigen-presenting cells in the skin (B)</p> Signup and view all the answers

Which of the following statements regarding the RECIST criteria for assessing tumor response is NOT correct?

<p>Progressive disease occurs when there is at least a 30% increase in the sum of the longest diameter of target lesions. (C)</p> Signup and view all the answers

Which of the following cells types would be most characteristic of the inflammatory response accompanying a leaking silicone breast implant?

<p>Giant cell (D)</p> Signup and view all the answers

Which of the following is NOT a characteristic of chronic granulomatous disease?

<p>Intracellular killing of micro-organisms (E)</p> Signup and view all the answers

Which of the following statements regarding tissue repair is CORRECT?

<p>Inadequate vascularization during healing can cause ulceration. (C)</p> Signup and view all the answers

Which of the following statements referring to active tumor immunotherapy is NOT correct?

<p>Checkpoint inhibition target 41BB and CD28 (E)</p> Signup and view all the answers

Which of the following is NOT a characteristic of Langhans giant cells?

<p>Are the antigen-presenting cells in the skin (A)</p> Signup and view all the answers

Which of the following statements is NOT correct concerning the adenomatous polyposis coli (APC) gene?

<p>Germinal mutation causes Lynch syndrome, an autosomal dominant genetic condition that is associated with a high risk of colon cancer as well as other cancers. (A)</p> Signup and view all the answers

Which of the following is a key cause of immortalization of cancer cells in many tumors?

<p>Reactivation of the telomerase enzyme (C)</p> Signup and view all the answers

Which of the following is NOT a characteristic of a cancer stem cell?

<p>The ability to replicate an unlimited number of times. (E)</p> Signup and view all the answers

Which property of p53 enables it to prevent the development of cancer?

<p>P53 prevents the replication of cells with damaged DNA. (D)</p> Signup and view all the answers

Flashcards

Diagnosis

The process of identifying specific diseases through evaluation of signs and symptoms.

Apoptosis

The process of cell death that is programmed and controlled, usually occurring in a single cell without causing damage to neighboring cells.

Necrosis

The process of cell death that is uncontrolled and messy, often damaging surrounding cells and triggering inflammation.

Steatosis

The intracellular accumulation of triglycerides, often associated with liver disease.

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Hemosiderosis

A condition characterized by an abnormal accumulation of iron in the body, often affecting organs like the liver and pancreas.

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DNA Damage Response (DDR)

A programmed cell death triggered by cellular stress and DNA damage, involving the activation of p53.

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Autophagy

The process of degrading unwanted or damaged cell components, often occurring in response to stress or lack of nutrients.

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Pyroptosis

A type of cell death caused by inflammation, often triggered by bacterial infections.

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Immortalization

The ability of a cell to divide indefinitely, often associated with cancer cells.

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Oncogene

A gene that promotes cell growth and division, often mutated in cancer cells.

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Tumor suppressor gene

A gene that normally suppresses cell growth, but when mutated, can lead to cancer.

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Retinoblastoma protein (Rb)

A protein that plays a key role in regulating the cell cycle, acting as a tumor suppressor.

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DNA repair pathway

A process that involves a series of steps that repair damaged DNA, preventing the development of cancer.

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Anoikis

A type of cell death that occurs when cells lose contact with the extracellular matrix, often associated with cancer progression.

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Cancer stem cells

A special type of cell within a tumor that is able to self-renew and generate a heterogeneous population of cancer cells. These cells are often more resistant to chemotherapy.

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Macrophage

A type of immune cell that helps fight infections and promote tissue repair.

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Dendritic cells

Specialized antigen-presenting cells that activate T cells, playing a crucial role in initiating immune responses.

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Eosinophil

A type of white blood cell that is involved in the immune response to parasites and allergies.

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Neutrophil

A type of white blood cells that help fight bacterial infections.

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Apoptosome

A complex of proteins that activates caspase-9, leading to the execution phase of apoptosis.

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Bcl-2 family proteins

A family of proteins that regulate the permeability of the mitochondrial outer membrane, playing a crucial role in apoptosis.

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Execution phase of apoptosis

A process that involves the activation of caspases, resulting in the dismantling of the cell.

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Amyloidosis

A harmful situation involving the formation of an abnormal deposit of protein in the body.

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Granulomatous inflammation

A form of inflammation characterized by the formation of granulomas, which are collections of immune cells that wall off foreign substances.

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Alternatively activated (M2) macrophages

A type of macrophage that has been activated by exposure to cytokines and is involved in tissue repair and the resolution of inflammation.

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Giant cells

Large cells with multiple nuclei, often found in granulomas.

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Chronic obstructive pulmonary disease (COPD)

A type of chronic inflammation that primarily affects the airways and is often associated with asthma.

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Somatic hypermutation

The process of generating diversity in antibodies after an immune response, allowing the immune system to target a wider variety of antigens.

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Stem cells

Cells that are capable of self-renewal and generating a variety of differentiated cell types.

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Study Notes

X-linked SCID

  • Most common x-linked SCID is due to lack of the common-gamma chain
  • HLA alleles HLA-A*02 01 and HLA-A 02 02 differ because of non-synonymous polymorphisms of the coding region.

Pathology

  • One of the first signs of cell injury is Na/K ATPase impairment
  • The main consequence of anaerobic glycolysis is lactate accumulation
  • One of the first cell signs of mild hypoxic injury is swelling
  • Protease activation is triggered by cytosolic calcium increase
  • Phagocytes produce large amounts of ROS

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