Advanced Patho Exam 1 Study Guide
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Questions and Answers

Which of the following are symptoms of metafemale? (Select all that apply)

  • Menstrual irregularity (correct)
  • Mental retardation (correct)
  • Webbing of the neck
  • Sterility (correct)

    • What is the karyotype associated with Turner syndrome?

    45, X

    Individuals with Klinefelter syndrome have a karyotype of 47, XXY.

    True

    What is the effect of lead poisoning on neurotransmitter function?

    <p>Alters neurotransmitter function</p> Signup and view all the answers

    In Klinefelter syndrome, individuals typically have male appearance but may develop ______.

    <p>female-like breasts</p> Signup and view all the answers

    What is the primary immunity type that involves antibodies produced after natural exposure?

    <p>Active immunity</p> Signup and view all the answers

    What are the classes of IgG?

    <p>IgG1</p> Signup and view all the answers

    Recurrence risk for multifactorial diseases remains constant across populations.

    <p>False</p> Signup and view all the answers

    What is an effect of carbon monoxide poisoning?

    <p>Reduces oxygen carrying capacity of blood</p> Signup and view all the answers

    What are prokaryotes?

    <p>Organisms with no nucleus, a single circular chromosome, and no membrane-bound organelles.</p> Signup and view all the answers

    What is a key characteristic of eukaryotes?

    <p>They have a well-defined nucleus and membrane-bound organelles.</p> Signup and view all the answers

    What is the primary function of the nucleus?

    <p>Control of genetic information and cell division.</p> Signup and view all the answers

    What is the role of ribosomes in eukaryotic cells?

    <p>Provide sites for protein synthesis.</p> Signup and view all the answers

    What are lysosomes responsible for?

    <p>Remove toxic cell components</p> Signup and view all the answers

    What is the function of mitochondria?

    <p>Powerhouse of the cell that generates ATP.</p> Signup and view all the answers

    Which process describes the shrinking of cells?

    <p>Atrophy</p> Signup and view all the answers

    What is apoptosis?

    <p>Programmed cell death</p> Signup and view all the answers

    What causes a callus to form?

    <p>Compensatory hyperplasia.</p> Signup and view all the answers

    What is the function of the sodium-potassium pump?

    <p>Transports sodium out and potassium in</p> Signup and view all the answers

    What does edema refer to?

    <p>Accumulation of fluid in interstitial spaces</p> Signup and view all the answers

    Hyponatremia can cause confusion.

    <p>True</p> Signup and view all the answers

    What is the recurrence risk of an autosomal dominant trait?

    <p>One half.</p> Signup and view all the answers

    What is a characteristic of X-linked recessive disorders?

    <p>Males are most commonly affected.</p> Signup and view all the answers

    Match the following terms with their definitions:

    <p>Homozygous = Identical alleles on a pair of chromosomes Heterozygous = Different alleles on a pair of chromosomes Genotype = The genetic makeup of an organism Phenotype = The observable characteristics of an organism</p> Signup and view all the answers

    What are some symptoms of metafemale?

    <p>All of the above</p> Signup and view all the answers

    What karyotype is associated with Turner syndrome?

    <p>45, X</p> Signup and view all the answers

    Individuals with Klinefelter syndrome can have more than two X chromosomes.

    <p>True</p> Signup and view all the answers

    What is the primary treatment for Turner syndrome?

    <p>Estrogen</p> Signup and view all the answers

    Recurrence risks of multifactorial diseases remain constant among populations.

    <p>False</p> Signup and view all the answers

    Which immunoglobulin is the most abundant and provides protection against infections?

    <p>IgG</p> Signup and view all the answers

    What common chemical is known as a chemical asphyxiant?

    <p>Carbon monoxide</p> Signup and view all the answers

    Lead poisoning primarily affects the ______ system.

    <p>nervous</p> Signup and view all the answers

    What type of immunity involves antibodies produced after exposure to an antigen?

    <p>Active immunity</p> Signup and view all the answers

    What type of immunity is transferred from a donor to a recipient?

    <p>Passive immunity</p> Signup and view all the answers

    What is the primary function of the nucleus in eukaryotic cells?

    <p>Control of genetic information and cell division.</p> Signup and view all the answers

    Which of the following are characteristics of prokaryotes? (Select all that apply)

    <p>Single circular chromosome</p> Signup and view all the answers

    Which organelle is known as the powerhouse of the cell?

    <p>Mitochondria</p> Signup and view all the answers

    The endoplasmic reticulum consists of ribosomes only on the smooth type.

    <p>False</p> Signup and view all the answers

    What is the difference between anaerobic and aerobic glycolysis?

    <p>Anaerobic glycolysis occurs without oxygen while aerobic glycolysis occurs with oxygen.</p> Signup and view all the answers

    What causes edema?

    <p>Accumulation of fluid within the interstitial spaces due to various factors.</p> Signup and view all the answers

    Which type of necrosis is characterized by a combination of coagulative and liquefactive necrosis, typically seen in Tuberculous pulmonary infection?

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

    Match the following genetic disorders with their characteristics:

    <p>Down Syndrome = Trisomy 21 Autosomal Recessive Disorders = Condition expressed equally in males and females Autosomal Dominant Disorders = Condition is expressed in approximately half of the offspring of an affected individual X-Linked Disorders = Usually expressed by males due to having one X chromosome</p> Signup and view all the answers

    What is the role of RNA polymerase?

    <p>RNA polymerase synthesizes RNA from DNA during transcription.</p> Signup and view all the answers

    Hyperkalemia is common due to efficient renal excretion.

    <p>False</p> Signup and view all the answers

    The primary structure that prevents water-soluble molecules from leaking out of a cell is the __________.

    <p>phospholipid bilayer</p> Signup and view all the answers

    Which type of necrosis is primarily associated with kidney and heart damage due to hypoxia?

    <p>Coagulative necrosis</p> Signup and view all the answers

    What characterizes dysplasia in cell growth?

    <p>Abnormal changes in size, shape, and organization of cells</p> Signup and view all the answers

    In which type of necrosis is cellular dissolution primarily caused by the action of lipases?

    <p>Fat necrosis</p> Signup and view all the answers

    What is the process that describes the cellular changes occurring after local cell death?

    <p>Necrosis</p> Signup and view all the answers

    Which of the following necrosis types is characterized by the combination of coagulative and liquefactive changes commonly observed in tuberculosis infection?

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

    Which of the following best describes the primary function of the endoplasmic reticulum?

    <p>Modification and transport of proteins and lipids</p> Signup and view all the answers

    What is the main role of the Golgi complex in protein processing?

    <p>Sorting, packaging, and distribution of proteins</p> Signup and view all the answers

    How do lysosomes contribute to cellular homeostasis?

    <p>By breaking down macromolecules and recycling cellular components</p> Signup and view all the answers

    Which of the following cellular metabolism pathways primarily produces ATP?

    <p>All of the above</p> Signup and view all the answers

    What type of necrosis is characterized by coagulative changes and is commonly associated with ischemia?

    <p>Coagulative necrosis</p> Signup and view all the answers

    Which type of necrosis is most commonly associated with tuberculosis infections?

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

    Which metabolic pathway is primarily responsible for synthesizing fatty acids?

    <p>Fatty acid synthesis</p> Signup and view all the answers

    What is the primary implication of necrosis in tissue health?

    <p>Inflammation and potential loss of function</p> Signup and view all the answers

    Which cellular process, involved in calcium storage, can be affected by endoplasmic reticulum dysfunction?

    <p>Calcium homeostasis</p> Signup and view all the answers

    What cellular condition can lead to excessive scar formation, known as keloids?

    <p>Imbalance in collagen synthesis and degradation</p> Signup and view all the answers

    What distinguishes coagulative necrosis from liquefactive necrosis?

    <p>Liquefactive necrosis involves the invasion of neutrophils.</p> Signup and view all the answers

    Which process is primarily responsible for programmed cell death?

    <p>Apoptosis through chemical signaling.</p> Signup and view all the answers

    Which distinction applies to wet gangrene?

    <p>It is associated with liquefactive necrosis due to neutrophil invasion.</p> Signup and view all the answers

    What is primarily responsible for muscle stiffening after death?

    <p>Rigor mortis leading to muscle contraction.</p> Signup and view all the answers

    What is the relationship between osmosis and solute concentration?

    <p>Osmosis occurs when water moves from high to low solute concentration.</p> Signup and view all the answers

    What is the primary function of the sodium-potassium pump in cellular activity?

    <p>Maintaining resting membrane potential through active transport.</p> Signup and view all the answers

    Which of the following best describes postmortem autolysis?

    <p>The release of enzymes causing tissue breakdown.</p> Signup and view all the answers

    How does the body respond to misfolded proteins at a cellular level?

    <p>By initiating apoptosis to eliminate affected cells.</p> Signup and view all the answers

    What type of cellular structure do eukaryotic cells possess that prokaryotic cells lack?

    <p>Membrane-bound organelles</p> Signup and view all the answers

    Which of the following is a primary function of the nucleus in eukaryotic cells?

    <p>Control of genetic information</p> Signup and view all the answers

    What is the role of ribosomes in eukaryotic cells?

    <p>Provide sites for protein synthesis</p> Signup and view all the answers

    Which component of the eukaryotic cell is responsible for moving molecules between the nucleus and cytosol?

    <p>Nuclear envelope</p> Signup and view all the answers

    Which two types of endoplasmic reticulum are distinguished primarily by the presence of ribosomes?

    <p>Smooth and rough</p> Signup and view all the answers

    What structural feature of the plasma membrane makes it impermeable to water-soluble molecules?

    <p>Phospholipid bilayer composition</p> Signup and view all the answers

    Which statement accurately describes acute inflammation?

    <p>It begins immediately after injury or infection.</p> Signup and view all the answers

    What is a common characteristic of chronic inflammation?

    <p>It occurs without any preceding acute response.</p> Signup and view all the answers

    Which of the following best describes the role of macrophages in chronic inflammation?

    <p>They help in walling off and isolating infections.</p> Signup and view all the answers

    Which of the following factors can contribute to chronic inflammation?

    <p>High lipid content of microorganisms</p> Signup and view all the answers

    What distinguishes the rough endoplasmic reticulum from the smooth endoplasmic reticulum?

    <p>It contains ribosomes.</p> Signup and view all the answers

    What is the primary function of the Golgi complex?

    <p>Process and package proteins for delivery.</p> Signup and view all the answers

    Which cellular structure is responsible for detoxifying compounds and fatty acids?

    <p>Peroxisomes</p> Signup and view all the answers

    What is a characteristic function of mitochondria?

    <p>Participate in oxidative phosphorylation.</p> Signup and view all the answers

    What process describes the energy-releasing breakdown of molecules in cellular metabolism?

    <p>Catabolism</p> Signup and view all the answers

    What occurs during anaerobic glycolysis?

    <p>ATP is synthesized through substrate phosphorylation.</p> Signup and view all the answers

    What term describes an increase in cell size and the size of the affected organ?

    <p>Hypertrophy</p> Signup and view all the answers

    Which component of the cell acts like its 'bones and muscles'?

    <p>Cytoskeleton</p> Signup and view all the answers

    What is a symptom commonly associated with Turner syndrome?

    <p>Short stature</p> Signup and view all the answers

    In which condition do individuals have an increased recurrence risk when more than one family member is affected?

    <p>Multifactorial diseases</p> Signup and view all the answers

    Which of the following reflects the impact of lead poisoning on the nervous system?

    <p>Altered neurotransmitter function</p> Signup and view all the answers

    What is a characteristic of Klinefelter syndrome?

    <p>Sparse body hair</p> Signup and view all the answers

    Which type of immunity involves preformed antibodies transferred from one individual to another?

    <p>Passive immunity</p> Signup and view all the answers

    What is the effect of carbon monoxide poisoning on the body?

    <p>Reduced oxygen carrying capacity of blood</p> Signup and view all the answers

    What is a common feature of individuals with metafemale?

    <p>Sterility</p> Signup and view all the answers

    How does the number of X chromosomes affect symptoms in Klinefelter syndrome?

    <p>Symptoms worsen with additional X chromosomes</p> Signup and view all the answers

    Which of the following is a potential cause of metabolic acidosis?

    <p>Shock leading to poor perfusion</p> Signup and view all the answers

    What is one of the primary consequences of compensatory hyperplasia in the skin?

    <p>Thickening of the skin</p> Signup and view all the answers

    Which of the following describes a characteristic of autosomal recessive disorders?

    <p>Expressed equally in males and females</p> Signup and view all the answers

    What defines the recurrence risk of an autosomal dominant trait?

    <p>One half for each child of an affected parent</p> Signup and view all the answers

    Which of the following correctly describes X-linked recessive disorders?

    <p>Females can be carriers without expressing the disorder</p> Signup and view all the answers

    What is the main effect of prostaglandins in the body?

    <p>Induce pain and inflammation</p> Signup and view all the answers

    Which statement about Down syndrome is accurate?

    <p>It is an example of aneuploidy.</p> Signup and view all the answers

    In the context of water movement, what does edema refer to?

    <p>Fluid accumulation within interstitial spaces</p> Signup and view all the answers

    What can cause an increase in capillary permeability?

    <p>Inflammation and immune response</p> Signup and view all the answers

    What do genotypes represent in genetics?

    <p>The genetic makeup of an organism</p> Signup and view all the answers

    Which of the following conditions involves a risk increase with maternal age?

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

    What is the expected recurrence risk for a child with two carrier parents of an autosomal recessive disorder?

    <p>25%</p> Signup and view all the answers

    How is a carrier defined in genetics?

    <p>Someone who has a disease gene but is phenotypically normal</p> Signup and view all the answers

    Study Notes

    Prokaryotes vs. Eukaryotes

    • Prokaryotes lack a nucleus and membrane-bound organelles, possessing instead a single circular chromosome located in a nucleoid.
    • Examples of prokaryotes include cyanobacteria, bacteria, and rickettsiae.
    • Eukaryotes have complex cellular organization with membrane-bound organelles and a well-defined nucleus, including higher animals, plants, fungi, and protozoa.

    Eukaryotic Cell Structure

    • The nucleus is the largest membrane-bound organelle, facilitating the movement of molecules between the nucleus and cytosol via the nuclear envelope.
    • Nucleolus consists of RNA, DNA, and histone proteins; it plays a key role in ribosome synthesis and cell division.
    • Cytoplasm comprises the cytoplasmic matrix and cytosol, which is crucial for protein synthesis, hormone transport, and cellular maintenance.

    Eukaryotic Organelles

    • Ribosomes are sites for protein synthesis.
    • Endoplasmic reticulum (ER) exists in two forms: rough (with ribosomes) and smooth (without ribosomes), both involved in protein synthesis.
    • The Golgi complex processes, packages proteins for delivery, forming secretory vesicles.
    • Lysosomes digest toxins, organelles, and foreign materials; they originate from the Golgi and contain hydrolases.
    • Peroxisomes detoxify harmful substances, containing oxidative enzymes.
    • Mitochondria are the powerhouses of the cell, generating ATP through oxidative phosphorylation.
    • The cytoskeleton maintains cellular shape, enabling motility and organelle transport.

    Cellular Metabolism

    • Anabolism is energy-consuming, while catabolism releases energy.
    • Digestion and glycolysis (splitting of glycogen) occur in the cytoplasm, with anaerobic processes taking place without oxygen.

    Cellular Adaptations

    • Atrophy refers to a decrease in cell size due to various physiological or pathological conditions.
    • Hypertrophy involves increased cell size, often resulting from hormonal stimulation or chronic overload.
    • Hyperplasia is an increase in cell number, occurring in compensatory or hormonal contexts.
    • Dysplasia indicates abnormal cell growth, while metaplasia is the reversible replacement of one cell type with another.

    Cellular Death Mechanisms

    • Necrosis is the process of cellular autodigestion following local cell death, marked by various types: coagulative, liquefactive, caseous, fat, and gangrenous necrosis.
    • Apoptosis is programmed cell death, contrasting necrosis by avoiding inflammation and rapid engulfment of cellular debris.

    Somatic Death

    • Postmortem changes include algor mortis (body cooling), livor mortis (blood settling), rigor mortis (muscle stiffening), and autolysis (enzyme release).

    Transport Mechanisms

    • Diffusion involves solute movement from high to low concentration, while osmosis is the movement of water across a semipermeable membrane.
    • The sodium-potassium pump actively transports sodium out and potassium into the cell, crucial for action potentials.

    Inflammation Types

    • Acute inflammation lasts 8-10 days, marked by vascular responses; chronic inflammation persists for longer and is often due to failed acute responses.
    • Characteristics of chronic inflammation include dense lymphocyte infiltration and granuloma formation.

    RNA Synthesis

    • RNA is synthesized from DNA via RNA polymerase during transcription, followed by translation into proteins by ribosomes.

    Electrolyte Imbalances

    • Hypokalemia (low potassium) can cause neuromuscular irritability and muscle weakness.
    • Hyponatremia (low sodium) leads to symptoms like confusion, intracellular dehydration, and hypotension.

    Inflammatory Response Goals

    • The inflammatory response aims to control damaging processes, prevent infection, control bleeding, and prepare for healing.

    Chemical Mediators of Inflammation

    • Mast cells play a central role by releasing histamine and other mediators, activated by physical or chemical stimuli.

    Systemic Manifestations of Acute Inflammation

    • Fever is triggered by pyrogens affecting the hypothalamus.
    • Leukocytosis is increased leukocyte levels; acute-phase reactants rise due to liver activity.

    Wound Healing

    • Healing involves resolution (regeneration) or repair (scar formation).
    • Dysfunctional wound healing can occur due to various factors such as infection, excessive scarring, and suboptimal nutrient conditions.

    Genetic Disorders

    • Down syndrome (Trisomy 21) is the most common aneuploidy, with characteristic physical features and risks.
    • Autosomal recessive disorders express equally in genders, while autosomal dominant disorders show no generational skipping.
    • X-linked disorders primarily affect males; females can be carriers.
    • Genetic concepts include homozygous (identical alleles), heterozygous (different alleles), genotypes, and phenotypes.

    Risk and Recurrence

    • The recurrence risk for genetic conditions varies by trait dominance; autosomal recessive traits require both parents to be carriers.
    • X-linked recessive disorders show generational skipping and primarily affect males.

    Fragile X Syndrome

    • Often leads to intellectual disability, prevalent especially in males due to single X chromosome presence.### Metafemale Syndrome
    • Characterized by a variable range of symptoms including sterility, menstrual irregularities, and mental retardation.
    • Symptoms worsen with each additional X chromosome present.

    Turner Syndrome

    • Identified by a 45, X karyotype, representing females with a single X chromosome.
    • Key features include absence of ovaries leading to sterility, short stature (~4'7"), and webbing of the neck.
    • Common indicators are edema of feet in newborns, sparse body hair, underdeveloped breasts with wide nipples, and a high incidence of aborted fetuses.
    • Typically, X chromosome is inherited from the mother; cases often result from the loss of the paternally transmitted X chromosome.
    • Treatment involves estrogen to promote the development of secondary sexual characteristics.

    Klinefelter Syndrome

    • Identified by an individual having at least two X chromosomes and one Y chromosome, with the common karyotype being 47, XXY.
    • Characterized by male appearance accompanied by female-like breast development (gynecomastia) and small testes.
    • Sparse body hair and long limbs are also noted characteristics.
    • More severe abnormalities may occur in individuals with additional X chromosomes (e.g., XXXY or XXXXY).

    Recurrence Risks

    • Recurrence risks for multifactorial diseases fluctuate due to varying gene frequencies and lifestyle factors across populations.
    • Higher recurrence risk is observed if multiple family members are affected.
    • Severity of expression in the proband correlates with increased recurrence risk.
    • The risk rises if the proband belongs to the less commonly affected sex.
    • Recurrence risk generally diminishes rapidly with distantly related relatives.

    Immunoglobulin G (IgG)

    • IgG is the most abundant immunoglobulin, comprising 80-85% of total antibodies in the body.
    • It offers significant protection against infections and is capable of crossing the placenta, providing fetal and neonatal immunity.
    • IgG consists of four subclasses: IgG1, IgG2, IgG3, and IgG4.

    Cellular Injury Mechanisms

    • Chemical Injury:
      • Lead is a toxic metal found in old paint and represents a common industrial overexposure, significantly hazardous for children.
      • It disrupts intracellular calcium levels and alters zinc and magnesium, leading to impaired neurotransmitter function and decreased cellular energy. Affects nervous, immune, and reproductive systems with developmental repercussions.
      • Carbon monoxide, the most prevalent chemical asphyxiant, reduces blood’s oxygen-carrying capacity, leading to symptoms such as headache, confusion, weakness, and potential loss of consciousness.

    Active vs. Passive Immunity

    • Active Immunity: Involves the production of antibodies or T cells following natural exposure to an antigen or immunization.
    • Passive Immunity: Involves the transfer of preformed antibodies or T lymphocytes from a donor to a recipient.

    Prokaryotes vs. Eukaryotes

    • Prokaryotes lack a nucleus and membrane-bound organelles, possessing instead a single circular chromosome located in a nucleoid.
    • Examples of prokaryotes include cyanobacteria, bacteria, and rickettsiae.
    • Eukaryotes have complex cellular organization with membrane-bound organelles and a well-defined nucleus, including higher animals, plants, fungi, and protozoa.

    Eukaryotic Cell Structure

    • The nucleus is the largest membrane-bound organelle, facilitating the movement of molecules between the nucleus and cytosol via the nuclear envelope.
    • Nucleolus consists of RNA, DNA, and histone proteins; it plays a key role in ribosome synthesis and cell division.
    • Cytoplasm comprises the cytoplasmic matrix and cytosol, which is crucial for protein synthesis, hormone transport, and cellular maintenance.

    Eukaryotic Organelles

    • Ribosomes are sites for protein synthesis.
    • Endoplasmic reticulum (ER) exists in two forms: rough (with ribosomes) and smooth (without ribosomes), both involved in protein synthesis.
    • The Golgi complex processes, packages proteins for delivery, forming secretory vesicles.
    • Lysosomes digest toxins, organelles, and foreign materials; they originate from the Golgi and contain hydrolases.
    • Peroxisomes detoxify harmful substances, containing oxidative enzymes.
    • Mitochondria are the powerhouses of the cell, generating ATP through oxidative phosphorylation.
    • The cytoskeleton maintains cellular shape, enabling motility and organelle transport.

    Cellular Metabolism

    • Anabolism is energy-consuming, while catabolism releases energy.
    • Digestion and glycolysis (splitting of glycogen) occur in the cytoplasm, with anaerobic processes taking place without oxygen.

    Cellular Adaptations

    • Atrophy refers to a decrease in cell size due to various physiological or pathological conditions.
    • Hypertrophy involves increased cell size, often resulting from hormonal stimulation or chronic overload.
    • Hyperplasia is an increase in cell number, occurring in compensatory or hormonal contexts.
    • Dysplasia indicates abnormal cell growth, while metaplasia is the reversible replacement of one cell type with another.

    Cellular Death Mechanisms

    • Necrosis is the process of cellular autodigestion following local cell death, marked by various types: coagulative, liquefactive, caseous, fat, and gangrenous necrosis.
    • Apoptosis is programmed cell death, contrasting necrosis by avoiding inflammation and rapid engulfment of cellular debris.

    Somatic Death

    • Postmortem changes include algor mortis (body cooling), livor mortis (blood settling), rigor mortis (muscle stiffening), and autolysis (enzyme release).

    Transport Mechanisms

    • Diffusion involves solute movement from high to low concentration, while osmosis is the movement of water across a semipermeable membrane.
    • The sodium-potassium pump actively transports sodium out and potassium into the cell, crucial for action potentials.

    Inflammation Types

    • Acute inflammation lasts 8-10 days, marked by vascular responses; chronic inflammation persists for longer and is often due to failed acute responses.
    • Characteristics of chronic inflammation include dense lymphocyte infiltration and granuloma formation.

    RNA Synthesis

    • RNA is synthesized from DNA via RNA polymerase during transcription, followed by translation into proteins by ribosomes.

    Electrolyte Imbalances

    • Hypokalemia (low potassium) can cause neuromuscular irritability and muscle weakness.
    • Hyponatremia (low sodium) leads to symptoms like confusion, intracellular dehydration, and hypotension.

    Inflammatory Response Goals

    • The inflammatory response aims to control damaging processes, prevent infection, control bleeding, and prepare for healing.

    Chemical Mediators of Inflammation

    • Mast cells play a central role by releasing histamine and other mediators, activated by physical or chemical stimuli.

    Systemic Manifestations of Acute Inflammation

    • Fever is triggered by pyrogens affecting the hypothalamus.
    • Leukocytosis is increased leukocyte levels; acute-phase reactants rise due to liver activity.

    Wound Healing

    • Healing involves resolution (regeneration) or repair (scar formation).
    • Dysfunctional wound healing can occur due to various factors such as infection, excessive scarring, and suboptimal nutrient conditions.

    Genetic Disorders

    • Down syndrome (Trisomy 21) is the most common aneuploidy, with characteristic physical features and risks.
    • Autosomal recessive disorders express equally in genders, while autosomal dominant disorders show no generational skipping.
    • X-linked disorders primarily affect males; females can be carriers.
    • Genetic concepts include homozygous (identical alleles), heterozygous (different alleles), genotypes, and phenotypes.

    Risk and Recurrence

    • The recurrence risk for genetic conditions varies by trait dominance; autosomal recessive traits require both parents to be carriers.
    • X-linked recessive disorders show generational skipping and primarily affect males.

    Fragile X Syndrome

    • Often leads to intellectual disability, prevalent especially in males due to single X chromosome presence.### Metafemale Syndrome
    • Characterized by a variable range of symptoms including sterility, menstrual irregularities, and mental retardation.
    • Symptoms worsen with each additional X chromosome present.

    Turner Syndrome

    • Identified by a 45, X karyotype, representing females with a single X chromosome.
    • Key features include absence of ovaries leading to sterility, short stature (~4'7"), and webbing of the neck.
    • Common indicators are edema of feet in newborns, sparse body hair, underdeveloped breasts with wide nipples, and a high incidence of aborted fetuses.
    • Typically, X chromosome is inherited from the mother; cases often result from the loss of the paternally transmitted X chromosome.
    • Treatment involves estrogen to promote the development of secondary sexual characteristics.

    Klinefelter Syndrome

    • Identified by an individual having at least two X chromosomes and one Y chromosome, with the common karyotype being 47, XXY.
    • Characterized by male appearance accompanied by female-like breast development (gynecomastia) and small testes.
    • Sparse body hair and long limbs are also noted characteristics.
    • More severe abnormalities may occur in individuals with additional X chromosomes (e.g., XXXY or XXXXY).

    Recurrence Risks

    • Recurrence risks for multifactorial diseases fluctuate due to varying gene frequencies and lifestyle factors across populations.
    • Higher recurrence risk is observed if multiple family members are affected.
    • Severity of expression in the proband correlates with increased recurrence risk.
    • The risk rises if the proband belongs to the less commonly affected sex.
    • Recurrence risk generally diminishes rapidly with distantly related relatives.

    Immunoglobulin G (IgG)

    • IgG is the most abundant immunoglobulin, comprising 80-85% of total antibodies in the body.
    • It offers significant protection against infections and is capable of crossing the placenta, providing fetal and neonatal immunity.
    • IgG consists of four subclasses: IgG1, IgG2, IgG3, and IgG4.

    Cellular Injury Mechanisms

    • Chemical Injury:
      • Lead is a toxic metal found in old paint and represents a common industrial overexposure, significantly hazardous for children.
      • It disrupts intracellular calcium levels and alters zinc and magnesium, leading to impaired neurotransmitter function and decreased cellular energy. Affects nervous, immune, and reproductive systems with developmental repercussions.
      • Carbon monoxide, the most prevalent chemical asphyxiant, reduces blood’s oxygen-carrying capacity, leading to symptoms such as headache, confusion, weakness, and potential loss of consciousness.

    Active vs. Passive Immunity

    • Active Immunity: Involves the production of antibodies or T cells following natural exposure to an antigen or immunization.
    • Passive Immunity: Involves the transfer of preformed antibodies or T lymphocytes from a donor to a recipient.

    Cellular Adaptations and Death

    • Pathologic vs. Physiologic Changes: Pathologic changes include chronic hemodynamic overload, while physiologic changes are due to increased demand or stimulation by hormones and growth factors.
    • Hyperplasia: Increase in the number of cells due to adaptive mechanisms (compensatory) or hormonal signals (hormonal), particularly in estrogen-dependent organs.
    • Dysplasia: Abnormal cellular growth and changes indicating potential neoplastic processes.
    • Metaplasia: Reversible replacement of one mature cell type with another, often due to tissue damage and repair.

    Types of Cellular Death

    • Necrosis: Involves local cell death followed by autolysis; lysosomes digest cell contents.
      • Coagulative Necrosis: Common in kidneys, heart, and adrenal glands; results from hypoxia or chemical injury.
      • Liquefactive Necrosis: Occurs in brain tissue involving hydrolytic enzymes, leading to a liquid mass.
      • Caseous Necrosis: Characteristic of tuberculosis, combines features of coagulative and liquefactive necrosis.
      • Fat Necrosis: Caused by lipases, affecting breast and abdominal organs.
      • Gangrenous Necrosis: Soft tissue death due to severe hypoxic injury; includes dry (coagulative) and wet (liquefactive) gangrene.
      • Gas Gangrene: Involves tissue putrefaction and gas production, typically from bacterial infection.

    Apoptosis

    • Programmed Cell Death: Active process characterized by cell self-destruction.
    • Causes: Severe injury, misfolded proteins, infections, and duct obstructions.
    • Differences from Necrosis: Apoptosis minimizes inflammation through phagocytosis, while necrosis typically triggers an inflammatory response.

    Somatic Death

    • Definition: Complete cessation of life processes in an individual.
    • Postmortem Changes:
      • Algor Mortis: Reduction in body temperature after death.
      • Livor Mortis: Blood settling causing purple discoloration in dependent tissues.
      • Rigor Mortis: Stiffening of muscles postmortem.
      • Postmortem Autolysis: Release of enzymes leading to tissue breakdown.

    Transport Mechanisms: Osmosis vs. Diffusion

    • Passive Transport: Both processes do not require energy.
    • Diffusion: Movement of solutes from high to low concentration areas.
    • Osmosis: Specific to water movement across a semipermeable membrane from high to low water concentration.

    Sodium-Potassium Pump

    • Function: Transports three sodium ions out and one potassium ion in, creating an electrochemical gradient crucial for action potentials.
    • Active Transport: Requires ATP to function.

    Electrolyte Imbalances

    • Hypokalemia: Low potassium levels (normal <5.5 mEq/L).
      • Mild Symptoms: Neuromuscular irritability, tingling, cramping.
      • Severe Symptoms: Muscle weakness and potential cardiac arrest.
    • Hyponatremia: Low sodium levels.
      • Causes: Sodium gain or water loss leading to intracellular dehydration.
      • Symptoms: Confusion, convulsions, hypotension.

    Inflammatory Response

    • Cardinal Signs: Redness, heat, swelling, and pain indicating localized inflammation.
    • Goals: Limit inflammation, prevent infection, control bleeding, engage the immune system, and prepare for healing.

    Chemical Mediators of Inflammation

    • Mast Cells: Central to inflammatory processes; release various mediators including histamine and cytokines upon activation.
    • Activation Triggers: Physical injuries, chemical agents, and immunological stimuli.

    Systemic Manifestations of Inflammation

    • Fever: Induced by pyrogens acting on the hypothalamus.
    • Leukocytosis: Increase in white blood cell count, often showing a left shift.
    • Acute-Phase Proteins: Liver-produced reactants like C-reactive protein and fibrinogen increase during inflammation.

    Resolution and Repair of Tissues

    • Resolution: Regeneration of tissues returning to original function.
    • Repair: Replacement of lost tissue with scar tissue composed of collagen.
    • Debridement: Removal of dead tissue to allow healing.

    Wound Healing Processes

    • Primary Intention: Minimal tissue loss, typically sutured wounds heal quickly.
    • Secondary Intention: More complex healing from bottom up, resulting in scarring.
    • Phases of Healing:
      • Reconstructive Phase: Initial healing begins.
      • Maturation Phase: Remodeling of the healed area.

    Dysfunctional Wound Healing

    • Complications: May involve hemorrhage, infection, keloids, and impaired healing due to various factors like corticosteroids or nutritional deficiencies.
    • Dehiscence: Wound edges pull apart, often due to excessive tension or obesity.

    Callus Formation

    • Cause: Thickened skin develops in response to repeated friction or pressure, allowing protection and adaptation.

    Prokaryotes vs. Eukaryotes

    • Prokaryotes lack a nucleus and membrane-bound organelles, containing a single circular chromosome in the nucleoid.
    • Eukaryotes have complex cellular organization with a well-defined nucleus and membrane-bound organelles, including higher animals, plants, fungi, and protozoa.

    Eukaryotic Cell Structure

    • The nucleus is the largest organelle with a nuclear envelope that facilitates movement of molecules to and from the cytosol.
    • The nucleolus contains RNA, DNA, and histone proteins, vital for cell division and genetic control.
    • Cytoplasm consists of a cytoplasmic matrix and cytosol, where protein synthesis, hormone transport, and cellular maintenance occur.

    Eukaryotic Organelles

    • Ribosomes are sites for protein synthesis.
    • The endoplasmic reticulum (ER) is divided into rough (with ribosomes) and smooth (without ribosomes), serving as the primary site for protein synthesis.
    • The Golgi complex processes and packages proteins, forming secretory vesicles for transport.
    • Lysosomes digest harmful cell components and maintain cellular homeostasis, originating from the Golgi.
    • Peroxisomes detoxify compounds and fatty acids using oxidative enzymes.
    • Mitochondria are the cell's powerhouse, generating ATP through oxidative phosphorylation.
    • The cytoskeleton supports the cell's structure and motility, facilitating movement of organelles within the cytoplasm.

    Cellular Metabolism

    • Metabolism involves two processes:
      • Anabolism, which uses energy for biosynthesis.
      • Catabolism, which releases energy through breakdown processes.

    Energy Production

    • Glycolysis splits glycogen into energy, occurring in the cytoplasm with anaerobic (without oxygen) and aerobic (with oxygen) pathways.

    Cellular Adaptations

    • Atrophy refers to shrinkage in cellular size due to decreased workload, blood supply, or hormonal stimulation.
    • Hypertrophy is an increase in cell size, often due to increased workload.

    Inflammation Types

    • Acute inflammation is a short-term response lasting 8-10 days, involving vascular response and cell activation after injury.
    • Chronic inflammation persists beyond two weeks and may arise from unsuccessful acute responses. It is marked by dense lymphocyte and macrophage infiltration.

    Genetic Disorders

    • Down syndrome (Trisomy 21) occurs in about 1 in 800 live births and is characterized by mental retardation, distinct facial features, and associated health risks. Maternal age is a risk factor.
    • Autosomal recessive disorders require individuals to be homozygous for expression, with about a 25% chance for offspring of affected carriers to express the disease.
    • Autosomal dominant disorders have a recurrence risk of 50% when one parent is affected.
    • X-linked disorders primarily affect males, with mothers passing the allele to daughters and a 50% chance of male offspring being affected if the mother is a carrier.

    Genetics Terminology

    • Homozygous: Identical alleles at a locus; e.g., O blood type (OO).
    • Heterozygous: Different alleles at a locus; e.g., AB blood type (A and B).
    • Genotype is the genetic makeup; phenotype is the observable trait.
    • Carriers are phenotypically normal individuals with one recessive allele.

    Genetic Disorder Characteristics

    • Fragile X syndrome is notable for mental retardation and is associated with the X chromosome.
    • Turner syndrome affects females with a 45, X karyotype, resulting in sterility and physical abnormalities.
    • Klinefelter syndrome (47, XXY) leads to male characteristics with female traits like gynecomastia.

    Recurrence Risks in Genetics

    • Recurrence risks for multifactorial diseases increase with the number of affected family members and severity of the proband's condition.

    Immunoglobulin (IgG)

    • IgG is the most abundant immunoglobulin, constituting 80-85% of total antibodies and providing key protection against infections while crossing the placenta.

    Cellular Injury Mechanisms

    • Lead poisoning, common in industrial settings, disrupts cellular functions and is particularly hazardous for children.
    • Carbon monoxide poisoning impairs blood oxygen transport, causing symptoms like confusion and weakness.

    Immunity Types

    • Active immunity involves the body's production of antibodies after exposure to an antigen or vaccination.
    • Passive immunity involves the transfer of preformed antibodies from a donor to a recipient.

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    Description

    Prepare for your Advanced Pathophysiology exam with this study guide focused on prokaryotes and eukaryotes. Learn about the structural differences, organelles, and characteristics that distinguish these two types of cells. This guide will help reinforce key concepts essential for mastering the subject.

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