Cellular Injury and Mechanisms
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Questions and Answers

Which condition is more damaging due to the lack of nutrients supplied to cells?

  • Hypoxia
  • Radiation
  • Physical trauma
  • Ischemia (correct)

What is a key characteristic of apoptosis?

  • Swelling of many cells
  • Membrane blebbing while maintaining integrity (correct)
  • Inflammation and cell lysis
  • Random degradation of DNA

Which mechanism is responsible for damaging cells by creating unstable atoms?

  • Free radical formation (correct)
  • Nutritional deficiencies
  • ATP depletion
  • Increased intracellular calcium

What type of necrosis is specifically associated with tuberculosis?

<p>Caseous necrosis (B)</p> Signup and view all the answers

Which of the following phases is NOT part of wound healing?

<p>Dissolution (C)</p> Signup and view all the answers

Which type of trauma leads directly to physical injury in cells?

<p>Physical trauma (C)</p> Signup and view all the answers

Which nutrient deficiency can cause cellular injury?

<p>Vitamin and mineral deficiencies (B)</p> Signup and view all the answers

What primarily distinguishes necrosis from apoptosis?

<p>Presence of inflammation (D)</p> Signup and view all the answers

Ionizing radiation primarily causes damage through which mechanism?

<p>Disruption in cell organelles (B)</p> Signup and view all the answers

What is the characteristic feature of an autosomal dominant disorder?

<p>One copy of the altered gene is sufficient to cause the disease. (D)</p> Signup and view all the answers

Which of the following genetic disorders is classified as autosomal recessive?

<p>Sickle cell anemia (A)</p> Signup and view all the answers

What is the role of DNA methylation in gene expression?

<p>It prevents transcription from occurring. (C)</p> Signup and view all the answers

Which of the following features is associated with Down Syndrome?

<p>Palmar crease (A)</p> Signup and view all the answers

Which of these is a characteristic symptom of Osteogenesis Imperfecta?

<p>Soft bones that break easily (D)</p> Signup and view all the answers

What is a common physical characteristic of Turner Syndrome?

<p>Wide spaced nipples (A)</p> Signup and view all the answers

What is the purpose of the Quad Screen test performed during pregnancy?

<p>To screen for genetic abnormalities (B)</p> Signup and view all the answers

What distinguishes X-linked recessive disorders from other types?

<p>Males are more often affected due to inheriting an affected X chromosome from their mother. (D)</p> Signup and view all the answers

What is likely to happen if two parents with achondroplasia have a child?

<p>50% chance the child will have achondroplasia. (B), 25% chance the child will be lethal. (C)</p> Signup and view all the answers

Which condition is characterized by the presence of an additional X chromosome in males?

<p>Klinefelter syndrome (D)</p> Signup and view all the answers

What does amniocentesis specifically analyze?

<p>Amniotic fluid for genetic abnormalities (A)</p> Signup and view all the answers

Which of the following correctly describes mitochondrial inheritance?

<p>Passed from mother to child regardless of the father's genotype. (C)</p> Signup and view all the answers

What is a distinguishing feature of Fragile X syndrome?

<p>Joint issues (D)</p> Signup and view all the answers

Which chromosomal disorder is associated with a break and rearrangement of chromosomes?

<p>Down syndrome (C)</p> Signup and view all the answers

Which of the following describes the phenotype of a child with cystic fibrosis?

<p>Respiratory and digestive issues with salty sweat. (A)</p> Signup and view all the answers

At what stage of pregnancy is cell-free DNA testing typically performed?

<p>10 weeks (D)</p> Signup and view all the answers

What can be said about heterozygous individuals?

<p>They have different alleles for a specific gene. (A)</p> Signup and view all the answers

What is a common characteristic of individuals with Klinefelter syndrome?

<p>Delayed puberty (C)</p> Signup and view all the answers

Which prenatal test involves the collection of placental tissue?

<p>Chorionic Villus Sampling (D)</p> Signup and view all the answers

Which disorder is associated with trisomy of chromosome 21?

<p>Down Syndrome (D)</p> Signup and view all the answers

Match the type of cellular injury with its description:

<p>Ischemia = Lack of blood flow leading to nutrient deprivation Hypoxia = Deficiency of oxygen identified by discolored lips Physical trauma = Injury caused by cutting or blunt force Chemical injury = Damage caused by drugs and heavy metals</p> Signup and view all the answers

Match the mechanisms of cellular injury with their effects:

<p>Free radical formation = Damage to lipid bilayer and cellular aging ATP depletion = Lack of energy supply to the cell Increased intracellular calcium = Disruption of cellular homeostasis ROS disruption = Injury to cell organelles</p> Signup and view all the answers

Match the characteristics of apoptosis and necrosis:

<p>Apoptosis = No inflammation or loss of membrane integrity Necrosis = Inflammation present with cell lysis</p> Signup and view all the answers

Match the types of necrosis with their descriptions:

<p>Coagulative necrosis = Protein denaturation affecting tissue shape Liquefactive necrosis = Enzyme breakdown leading to liquid formation Fat necrosis = Specific to adipose tissue injury Caseous necrosis = Associated with tuberculosis and immune response</p> Signup and view all the answers

Match the phases of wound healing with their processes:

<p>Inflammation = Initial response to injury with blood clot formation Proliferation = Tissue regeneration and repair Maturation = Remodeling of the scar tissue Hemostasis = Stopping blood flow to minimize blood loss</p> Signup and view all the answers

Match the key features of apoptosis with their physiological roles:

<p>Programmed cell death = Eliminates aging and damaged cells Mitochondrial release = Pro-apoptotic proteins are activated Caspase activation = Enzymatic breakdown of cellular components Chromatin condensation = Prepares DNA for degradation</p> Signup and view all the answers

Match the causes of cellular injury with their effects:

<p>Physical trauma = Direct tissue damage Radiation = Disruption of cellular organelles Nutritional deficiencies = Lack of essential vitamins and minerals Chemical exposure = Direct injury to cellular DNA and enzymes</p> Signup and view all the answers

Match the terms with their appropriate definitions in cellular injury:

<p>Ischemia = Impairs nutrient delivery and waste removal Hypoxia = Specific deficiency of oxygen supply Apoptosis = Process of programmed cell death Necrosis = Accidental cell death with inflammatory response</p> Signup and view all the answers

Match the types of cellular injury with their examples:

<p>Chemical injury = Impact of heavy metals on cells Hypoxia = Discoloration of lips due to low oxygen levels Radiation = Ultraviolet light causing cellular disruption Physical trauma = Blunt force causing cellular damage</p> Signup and view all the answers

Match the following chromosomal disorders with their key characteristics:

<p>Fragile X syndrome = Intellectual disability, long face, autism spectrum disorders Down Syndrome = Palmar crease, flat facial profile, trisomy of chromosome 21 Turner Syndrome = Webbed neck, short stature, monosomy of the X chromosome Klinefelter syndrome = Male with long limbs, presence of an extra X chromosome</p> Signup and view all the answers

Match the prenatal tests with their primary purpose:

<p>Ultrasound = Structural abnormalities Maternal Serum Biomarkers = Quad Screen at 15-18 weeks Amniocentesis = Determine genetic abnormalities from amniotic fluid Chorionic Villus Sampling = Testing placental tissue for genetic abnormalities</p> Signup and view all the answers

Match the chromosomal disorder with its associated characteristic:

<p>Fragile X syndrome = Hypotonia and joint issues Down Syndrome = Leukemia and heart defects Turner Syndrome = Infertility and amenorrhea Klinefelter syndrome = Lower IQ and delayed puberty</p> Signup and view all the answers

Match the components of the Quad Screen with their respective biomarkers:

<p>AFP = Alpha-fetoprotein hCG = Human chorionic gonadotropin Inhibin A = Placental hormone Estriol = Estrogen produced by the placenta</p> Signup and view all the answers

Match the chromosomal disorder with the gender typically affected:

<p>Fragile X syndrome = Both genders affected Down Syndrome = Both genders affected Turner Syndrome = Typically affects females Klinefelter syndrome = Typically affects males</p> Signup and view all the answers

Match the following prenatal tests with their timing:

<p>Cell-free DNA = 10 weeks Ultrasound = Throughout pregnancy Amniocentesis = After 15 weeks Chorionic Villus Sampling = 10-13 weeks</p> Signup and view all the answers

Match the chromosomal disorders with their karyotype abnormalities:

<p>Down Syndrome = Trisomy 21 Turner Syndrome = Monosomy X Klinefelter syndrome = XXY Fragile X syndrome = X chromosome malformation</p> Signup and view all the answers

Match the prenatal test with its description:

<p>Ultrasound = Non-invasive imaging technique Amniocentesis = Involves collecting amniotic fluid Chorionic Villus Sampling = Invasive test of placental tissue Maternal Serum Biomarkers = Analyzes hormones in mother's blood</p> Signup and view all the answers

Match the disorder with its typical physical features:

<p>Turner Syndrome = Webbed neck and wide spaced nipples Down Syndrome = Flat facial profile and palmar crease Klinefelter syndrome = Wide hips and small testicles Fragile X syndrome = Prominent jaw and long face</p> Signup and view all the answers

Match the genetic disorder with its inheritance pattern:

<p>Osteogenesis Imperfecta = Autosomal Dominant Cystic Fibrosis = Autosomal Recessive Hemophilia = X-Linked Recessive Down Syndrome = Chromosomal Disorder</p> Signup and view all the answers

Match the following mechanisms of gene expression regulation with their descriptions:

<p>DNA Methylation = Prevents transcription by adding a methyl group microRNA = Inhibits translation by binding to mRNA Induction = Turns on a gene Repression = Turns off a gene</p> Signup and view all the answers

Match the genetic disorder with its clinical sign:

<p>Marfan's Syndrome = Disproportionately tall and slender build Huntington's Disease = Abrupt onset at age 30-40 Sickle Cell Anemia = Anemia and sickled RBC shape Duchenne’s Muscular Dystrophy = Loss of muscle control and paralysis</p> Signup and view all the answers

Match the following genetic disorders with their associated mutations:

<p>Cystic Fibrosis = Mutation in CFTR gene Neurofibromatosis = Mutation in nerves under skin Achondroplasia = Mutation in FGFR3 Duchenne’s Muscular Dystrophy = Mutation in dystrophin</p> Signup and view all the answers

Match the following features with their relevant genetic inheritance types:

<p>Homozygous = Identical alleles at a locus Heterozygous = Different alleles at a locus Autosomal Recessive = Requires two copies of an altered gene X-Linked Recessive = More likely to affect males</p> Signup and view all the answers

Match the disorder with its specific feature:

<p>Fragile X Syndrome = Expansion of CGG repeats in DNA Turner Syndrome = Presence of a single X chromosome Klinefelter Syndrome = Presence of an extra X chromosome Chronic Progressive External Ophthalmoplegia = Inherited mitochondrial disorder</p> Signup and view all the answers

Match the following genetic conditions with their common signs:

<p>Cystic Fibrosis = Salty sweat and respiratory issues Sickle Cell Anemia = Risk for malaria lower Neurofibromatosis = Café au lait spots Achondroplasia = Recurrent ear infections</p> Signup and view all the answers

Match the genetic disorder to its likelihood of occurrence among children based on parent genotypes:

<p>Achondroplasia = 25% chance if both parents are affected Huntington's Disease = 50% chance if one parent is affected Sickle Cell Anemia = 25% chance with two carrier parents Hemophilia = 100% chance for daughters if father is affected</p> Signup and view all the answers

Match the type of genetic disorder with a characteristic:

<p>Autosomal Dominant = 50% chance of passing to child Autosomal Recessive = Carriers do not express disease X-Linked Recessive = Inheritance primarily through mother Chromosomal Disorder = Involves break and rearrangement of chromosomes</p> Signup and view all the answers

Match the following terms with their appropriate definitions:

<p>Genotype = The genetic constitution of an organism Phenotype = Observable characteristics of an organism Epidemiology = Study of how diseases affect the health and illness of populations Mutation = Change in a DNA sequence</p> Signup and view all the answers

Flashcards

Cellular Injury

Damage to cells due to their inability to adapt to environmental stressors.

Ischemia

Lack of blood flow to a region, leading to oxygen and nutrient deprivation.

Hypoxia

Lack of oxygen, often causing discoloration and changes in pulse.

Free Radical Formation

Unstable atoms harming cells, leading to illness and aging.

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Apoptosis

Programmed cell death, removing aging cells and controlling cell populations.

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Necrosis

Uncontrolled cell death, leading to swelling, inflammation, and cell lysis.

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Inflammation (Wound Healing)

Initial phase of wound healing, involving blood clotting and the body's response to injury.

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Apoptosis vs. Necrosis

Apoptosis is programmed cell death (organized and controlled), while necrosis is accidental (uncontrolled) cell death.

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Physical Trauma

Injury to cells caused by physical force, such as cuts or blunt force.

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Chemical Injury

Damage to cells caused by exposure to substances that disrupt cellular functions.

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Autosomal Dominant Disorder

A genetic disorder where only one copy of an altered gene is needed to cause the disease.

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Autosomal Recessive Disorder

A genetic disorder where two copies of an altered gene are needed to cause the disease.

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X-linked Recessive Disorder

A genetic disorder where the mutation is on the X chromosome, affecting males more often.

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DNA Methylation

A way genes are turned off by adding a methyl group to the DNA.

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microRNA

A way genes are turned off by binding to mRNA and stopping protein production.

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Homozygous

Having identical alleles for a gene on a pair of chromosomes.

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Heterozygous

Having different alleles for a gene on a pair of chromosomes.

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Genetic Disorder

A disease caused by a change in a person's genes, not by environmental factors.

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Osteogenesis Imperfecta

Autosomal dominant disorder causing brittle bones.

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Cystic Fibrosis

Autosomal recessive disorder causing thick mucus buildup in the lungs and other organs.

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Fragile X Syndrome

A genetic disorder caused by a mutation on the X chromosome, leading to intellectual disability, distinctive facial features, and often autism spectrum disorders.

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Down Syndrome

A genetic disorder caused by an extra copy of chromosome 21, resulting in intellectual disabilities, characteristic physical features, and increased risk of certain health conditions.

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Turner Syndrome

A genetic disorder affecting females, caused by the absence of one X chromosome, leading to short stature, distinctive physical features, and often infertility.

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Klinefelter Syndrome

A genetic disorder affecting males, caused by an extra X chromosome, leading to taller stature, less developed testes, and often learning difficulties.

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Ultrasound

A non-invasive prenatal test that uses sound waves to create images of the developing fetus, allowing for detection of structural abnormalities.

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Quad Screen

A prenatal blood test that measures levels of four specific substances in the mother's blood to assess the risk of certain birth defects.

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Cell-free DNA

A non-invasive prenatal test that analyzes fetal DNA circulating in the mother's blood to detect chromosomal abnormalities.

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Amniocentesis

An invasive prenatal test that involves extracting amniotic fluid from the womb to analyze fetal cells and detect genetic abnormalities.

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Chorionic Villus Sampling (CVS)

An invasive prenatal test that involves collecting placental tissue from the womb to analyze fetal cells and detect genetic abnormalities.

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What are some examples of common prenatal tests?

Prenatal tests are used to assess fetal health and development. Some common examples include ultrasound for structural abnormalities, Quad Screen to assess risk using maternal blood, Cell-free DNA to analyze fetal DNA in maternal blood, Amniocentesis to analyze amniotic fluid, and Chorionic Villus Sampling to analyze placental tissue.

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Radiation Injury

Damage to cells caused by exposure to radiation, which disrupts cell organelles and creates reactive oxygen species (ROS).

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Increased Intracellular Calcium

A mechanism of cellular injury where excessive calcium inside the cell can disrupt normal function and promote cell death.

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Homologous Chromosomes

A pair of chromosomes, one from each parent, with corresponding DNA sequences.

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Hemophilia

X-linked recessive disorder; blood clotting deficiency, easy bruising, spontaneous bleeding.

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What are the purposes of prenatal tests?

Prenatal tests are used to assess fetal health and development during pregnancy. They can help identify structural abnormalities, chromosomal disorders, and assess the risk of certain birth defects.

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Study Notes

Cellular Injury

  • Cellular injury occurs when cells cannot adapt to their environment.
  • Major causes:
    • Ischemia: Lack of blood flow, depriving cells of oxygen and nutrients, and preventing removal of harmful metabolites. More damaging than hypoxia.
    • Hypoxia: Lack of oxygen; indicated by discoloration and pulse ox changes.
    • Physical trauma: Cutting or blunt force injury.
    • Radiation (ionizing, nonionizing, UV): Disrupts organelles via reactive oxygen species (ROS).
    • Chemical: Blocks DNA synthesis, damages cells directly (drugs, heavy metals, industrial chemicals).
    • Nutritional deficiencies: Lack of necessary vitamins and minerals.

Mechanisms of Cellular Injury

  • Free radical formation: Unstable atoms damage cells, causing illness and aging. Degrades the lipid bilayer.
  • ATP depletion: Reduced energy for cellular functions.
  • Increased intracellular calcium: Disrupts cellular processes.

Apoptosis vs. Necrosis

  • Apoptosis: Programmed cell death.

    • Cell shrinks.
    • One cell primarily affected.
    • Cell contents ingested by neighbouring cells.
    • No inflammation.
    • Membrane blebbing but integrity maintained.
    • Apoptotic bodies form.
    • Mitochondria release pro-apoptotic proteins.
    • Chromatin condensation and non-random DNA degradation.
    • Physiological (ageing cell removal) or pathological (dysfunction leading to cancer).
    • Uses caspase enzymes.

  • Necrosis: Uncontrolled cell death.

    • Cell swells.
    • Many cells affected.
    • Inflammation noted.
    • Cell contents ingested by macrophages.
    • Loss of membrane integrity.
    • Cell lysis occurs.
    • Organelle swelling and random DNA degradation.
    • Different types (coagulative, liquefactive, fat, caseous).

Wound Healing

  • Inflammation: Blood clot formation, attraction of neutrophils and macrophages to remove dead cells and bacteria.
  • Proliferative: Fibroblasts build extracellular matrix to close wound edges.
  • Remodeling: New fibrous tissue forms, then degrades.

Genetic Disorders

Levels of DNA Organization

  • Chromosomes consist of tightly coiled DNA.
  • Humans have 23 homologous chromosome pairs.
  • Homologous chromosomes: Chromosome pairs with corresponding DNA, one from each parent.
  • Homozygous: Identical alleles at corresponding loci (e.g., type O blood).
  • Heterozygous: Different alleles at corresponding loci (e.g., AB blood type).

Gene Expression Regulation

  • Gene expression can be modified without altering DNA sequence.
  • Induction: Activating a gene.
  • Repression: Deactivating a gene.

Epigenetic Mechanisms

  • DNA methylation: Prevents transcription by adding methyl groups to DNA.
  • microRNA: Inhibits translation by binding to mRNA.

Mendelian Inheritance and Genotype/Phenotype Prediction

  • Determine child's genotype and phenotype (disease or no disease) given parent genotypes (autosomal dominant, recessive, X-linked recessive).

Types of Genetic Disorders

  • Autosomal Dominant: One altered gene copy causes disease. 50% chance of inheritance.
  • Autosomal Recessive: Two altered gene copies needed.
  • X-linked Recessive: Mutation on X chromosome. Males typically affected.
  • Mitochondrial Inheritance: Inherited from the mother.
  • Chromosomal Disorders: Breaks, rearrangements, or deletions in chromosomes (e.g., Down, Turner, Klinefelter).
  • Multifactorial Disorders: Multiple factors contribute (lifestyle, environment and genes).

Clinical Signs and Causes of Genetic Disorders

  • Autosomal Dominant:
    • Osteogenesis imperfecta: Brittle bones, bowed legs (collagen mutation).
    • Marfan syndrome: Tall, slender build, aortic issues, lens dislocation (fibrillin-1 mutation).
    • Huntington's disease: Movement and cognitive decline (CAG repeat mutation).
    • Neurofibromatosis: Café au lait spots, tumors (nerve mutation).
    • Achondroplasia: Short limbs, dwarfism (FGFR3 mutation).
  • Autosomal Recessive:
    • Cystic fibrosis: Respiratory and digestive issues (CFTR mutation).
    • Sickle cell anemia: Anemia, pain, sickled RBCs (hemoglobin mutation).
  • X-linked Recessive:
    • Hemophilia: Bleeding disorder (clotting factor mutation).
    • Duchenne muscular dystrophy: Muscle weakness (dystrophin mutation).
  • Mitochondrial Inheritance: Chronic progressive external ophthalmoplegia.
  • Chromosomal Disorders: Specific features for each (Down, Turner, Klinefelter).

Prenatal Testing

  • Ultrasound: Structural abnormalities.
  • Maternal Serum Biomarkers: (Quad Screen) AFP, hCG, inhibin A, estriol.
  • Cell-free DNA: Measures fetal DNA in maternal blood for chromosomal abnormalities.
  • Amniocentesis: Invasive test of amniotic fluid.
  • Chorionic Villus Sampling: Invasive test of placental tissue (10-13 weeks).

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Description

This quiz covers the topic of cellular injury, including its major causes and mechanisms. Learn about ischemia, hypoxia, physical trauma, and the effects of free radicals. Test your knowledge on how cellular processes are disrupted and the different types of cellular damage.

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