Genetics and Diseases Overview
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Questions and Answers

What characterizes hyper IgE syndrome?

  • Absence of eosinophils
  • Defect in B cell activation
  • Increased neutrophil activity
  • Elevated IgE levels with normal all other immunoglobulin levels (correct)

    • Which statement about the Haldane and Bohr effects is correct?

  • Both effects facilitate O2 unloading in peripheral tissues
  • Bohr effect occurs exclusively in the lungs
  • Haldane effect promotes O2 loading in the lungs (correct)
  • Haldane effect involves CO2 binding to hemoglobin

    • What is the primary characteristic of acute extrapyramidal symptoms?

  • They result from excessive dopamine production
  • They primarily affect the cerebellum
  • They arise from D2 receptor blockade in the nigrostriatal pathway (correct)
  • They are caused by serotonin excess

    • What is true regarding the flow volume loop in chronic obstructive pulmonary disease (COPD)?

    <p>It has a scooped out appearance</p> Signup and view all the answers

    Which congenital infection is associated with hydrocephalus and chorioretinitis?

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

    What distinguishes agenesis from malformation in terms of organ development?

    <p>Malformation denotes a defect occurring during organogenesis</p> Signup and view all the answers

    What is the expected outcome of a toxic shock syndrome caused by Staphylococcus aureus?

    <p>Release of pyrogenic superantigens</p> Signup and view all the answers

    Which amino acid is the most abundant in collagen?

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

    During non-REM sleep stage 3, what neurological feature is observed?

    <p>Delta waves</p> Signup and view all the answers

    What characterizes anticipation in genetic conditions?

    <p>Symptoms appear earlier and are more severe in successive generations.</p> Signup and view all the answers

    Which statement regarding fructose metabolism is accurate?

    <p>Fructose bypasses phosphofructokinase in its metabolism.</p> Signup and view all the answers

    What manifestation is commonly associated with Human herpesvirus 6 infection?

    <p>A truncal rash following a fever lasting 3-5 days.</p> Signup and view all the answers

    What condition is indicated by wide pulse pressure and bounding peripheral pulses?

    <p>Aortic regurgitation.</p> Signup and view all the answers

    Which of the following represents key characteristics of DiGeorge syndrome?

    <p>CATCH-22 symptoms including cardiac defects and thymic hypoplasia.</p> Signup and view all the answers

    What is the primary cause of complications in patients with chronic hyperglycemia, leading to diabetic complications?

    <p>Accumulation of intracellular sorbitol due to the overwhelmed conversion pathway.</p> Signup and view all the answers

    Which infectious condition should be suspected in a child with recurrent infections from catalase positive organisms?

    <p>Chronic granulomatous disease.</p> Signup and view all the answers

    What is the most common cause of sever unilateral fetal hydronephrosis?

    <p>Inadequate canalization at the ureteropelvic junction.</p> Signup and view all the answers

    What defines intermittent explosive disorder?

    <p>Recurrent episodes of impulsive verbal or physical aggression.</p> Signup and view all the answers

    What does genetic heterogeneity refer to?

    <p>Different genetic mutations causing the same disease</p> Signup and view all the answers

    In Digeorge syndrome, which sign indicates hypocalcemia?

    <p>Inflation of a blood pressure cuff leads to carpal spasm</p> Signup and view all the answers

    What characterizes the condition of aortic regurgitation?

    <p>Increased total stroke volume with rapid falloff of peripheral arterial pulses</p> Signup and view all the answers

    Which organism would you suspect in a child with recurrent infections and normal immunoglobulins?

    <p>Staphylococcus aureus</p> Signup and view all the answers

    In myotonic dystrophy, what is the pattern of presentation across generations?

    <p>The condition worsens and appears earlier in successive generations</p> Signup and view all the answers

    How does fructose metabolism differ from that of glucose in liver metabolism?

    <p>Fructose bypasses phosphofructokinase</p> Signup and view all the answers

    What is the primary defect in recurrent infections seen in chronic granulomatous disease?

    <p>Impaired respiratory burst in neutrophils</p> Signup and view all the answers

    What is a significant clinical finding in a child with hypocalcemia in Digeorge syndrome?

    <p>Twitching of the nose and lips when facial nerve is tapped</p> Signup and view all the answers

    What is the most common cause of severe unilateral fetal hydronephrosis?

    <p>Inadequate canalization of the ureter at the ureteropelvic junction</p> Signup and view all the answers

    What best describes intermittent explosive disorder?

    <p>Recurrent episodes of explosive verbal or physical aggression</p> Signup and view all the answers

    What is the primary reason that bronchial circulation protects against lung infarction due to pulmonary artery occlusion?

    <p>Bronchial arteries provide collateral blood flow to the lung parenchyma.</p> Signup and view all the answers

    Which characteristic of gastric acid neutralization is true?

    <p>Brunner's glands in the duodenum also contribute bicarbonate.</p> Signup and view all the answers

    What is a defining symptom of Hyper IgE syndrome?

    <p>Noninflammatory abscesses and chronic atopic dermatitis.</p> Signup and view all the answers

    What effect do delta waves have during sleep?

    <p>Associated with sleepwalking and night terrors.</p> Signup and view all the answers

    What is a common finding in patients with congenital rubella syndrome?

    <p>Sensorineural hearing loss and heart defects.</p> Signup and view all the answers

    What is the primary manifestation of Parvovirus infection?

    <p>Slapped cheek rash in children.</p> Signup and view all the answers

    What is the hallmark appearance of the flow-volume loop in chronic obstructive pulmonary disease?

    <p>Scooped-out appearance.</p> Signup and view all the answers

    In which type of immunological deficiency are neutrophils impaired due to T-helper cell dysfunction?

    <p>Hyper IgE syndrome.</p> Signup and view all the answers

    Which of the following describes a malformation in organ development?

    <p>Defect in organogenesis resulting in conditions like spina bifida.</p> Signup and view all the answers

    What type of symptoms can occur due to acute extrapyramidal effects from D2 receptor blockage?

    <p>Dystonia, akathisia, and parkinsonism.</p> Signup and view all the answers

    Study Notes

    Genetic Heterogeneity

    • Different genetic mutations can cause the same disease

    Anticipation

    • Inherited conditions present earlier and more severely in successive generations
    • Example: Myotonic dystrophy

    Fructose Metabolism

    • Bypasses phosphofructokinase, metabolized faster by the liver
    • Mannose and galactose do not bypass phosphofructokinase

    Human Herpesvirus 6 (Roseola)

    • Fever for 3-5 days followed by a truncal rash
    • Most common cause of febrile seizures

    Aortic Regurgitation

    • Increase in total stroke volume
    • Rapid falloff of peripheral arterial pulses
    • Wide pulse pressure
    • Bounding peripheral pulses and head bobbing with each heartbeat

    DiGeorge Syndrome (CATCH-22)

    • Cardiac defects
    • Abnormal facies
    • Thymic hypoplasia
    • Cleft palate
    • Hypocalcemia
    • Hypocalcemia
      • Chvostek sign: Tapping on the facial nerve causes twitching of nose and lips
      • Trousseau sign: Inflation of blood pressure cuff leads to carpal spasm
      • No thymic shadow on imaging

    Sorbitol Pathway

    • Aldose reductase converts glucose into sorbitol
    • Sorbitol dehydrogenase metabolizes sorbitol to fructose
    • Chronic hyperglycemia overwhelms the pathway, causing intracellular sorbitol accumulation
    • Leads to diabetic retinopathy, neuropathy, and nephropathy

    Chronic Granulomatous Disease

    • Suspect in children with recurrent infections by catalase-positive organisms (Staphylococcus aureus, Aspergillus)
    • Normal immunoglobulins and no leukopenia
    • Defective intracellular killing of phagocytized organisms within neutrophils
    • Impaired respiratory burst

    Fetal Hydronephrosis

    • Most common cause: Inadequate canalization of the ureter at the ureteropelvic junction

    Intermittent Explosive Disorder

    • Recurrent episodes of explosive verbal or physical aggression
    • Impulsive behavior, grossly out of proportion to the provocation

    Aging and the Respiratory System

    • Lungs become more compliant (loose)
    • Respiratory system compliance decreases
    • Dead space increases

    Chronic Obstructive Pulmonary Disease (COPD)

    • Flow-volume loop has a scooped-out appearance

    Coxsackievirus

    • Causes hand, foot, and mouth disease

    Parvovirus

    • Can cause a slapped cheek rash

    Hyper IgE Syndrome

    • Elevated IgE levels
    • Impaired neutrophil activation and migration due to a defect in T helper cell type 17 cells
    • Non-inflammatory abscesses
    • Recurrent sinopulmonary infections
    • Chronic atopic dermatitis
    • All other immunoglobulin levels are normal

    Sleep Stages

    • Delta waves (Non-REM stage 3)
      • First half of the night
      • Sleepwalking and night terrors
    • REM Sleep
      • EEG shows wakefulness
      • Second half of the night
      • Dreams and muscle atonia
      • REM sleep behavior disorders
      • Nightmare disorder

    Oxygen and Hemoglobin

    • In the lungs, O2 binding to hemoglobin drives release of H+ and CO2 (Haldane effect)
    • In the peripheral tissues, high CO2 and H+ concentrations facilitate O2 unloading (Bohr effect)

    Developmental Abnormalities

    • Agenesis: Complete absence of an organ
    • Malformation: Defect in organogenesis (e.g., spina bifida, holoprosencephaly)
    • Dysplasia: Abnormal organization of cells within a tissue (e.g., skeletal dysplasia)

    Toxic Shock Syndrome

    • Staphylococcus aureus replicates and releases pyrogenic toxin superantigens
    • Superantigens bind to MHC-II complex of antigen-presenting cells
    • Nonspecific activation of T cells

    Congenital Infections

    • Toxoplasmosis
      • Chorioretinitis
      • Hydrocephalus
      • Diffuse intracranial calcifications
    • Syphilis
      • Rhinorrhea
      • Skeletal anomalies
    • Rubella
      • Cataracts
      • Heart defects
      • Sensorineural hearing loss
    • Cytomegalovirus
      • Periventricular calcifications
      • Microcephaly
      • Sensorineural hearing loss

    Rubella

    • Polyarthritis
    • Rash
    • Postauricular lymphadenopathy

    Collagen

    • Most abundant amino acid: Glycine

    Acute Extrapyramidal Symptoms

    • Dystonia, akathisia, parkinsonism
    • Due to D2 blockage in the nigrostriatal pathway
    • Caused by first-generation antipsychotics like haloperidol and fluphenazine

    Gastric Acid Neutralization

    • Submucosal (Brunner) glands of the duodenum
    • Pancreatic duct secretions
    • Chronic overproduction of gastric acid can lead to hyperplasia of the submucosal glands

    Lung Circulation

    • Dual circulation from pulmonary and bronchial arteries
    • Collateral circulation from the bronchial arteries protects against lung infarction due to pulmonary artery occlusion (PE)
    • Bronchial circulation continues to provide blood to the lung parenchyma

    Genetic Heterogeneity

    • Different genetic mutations can cause the same disease.

    Anticipation

    • Inherited conditions can become more severe and present earlier in successive generations.
    • Myotonic dystrophy is an example of this.

    Fructose Metabolism

    • Fructose bypasses phosphofructokinase in the liver. This allows for faster metabolism compared to mannose and galactose.

    Roseola

    • Human herpesvirus 6 (roseola) is the most common cause of febrile seizures.
    • Presents with a 3-5 day fever followed by a truncal rash.

    Aortic Regurgitation

    • Increased total stroke volume and rapid falloff of peripheral arterial pulses lead to a wide pulse pressure.
    • This results in bounding peripheral pulses and head bobbing with each heartbeat.

    DiGeorge Syndrome

    • CATCH-22: cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia.
    • Hypocalcemia leads to Chvostek's sign (facial nerve tapping causing twitching of nose and lips) and Trousseau's sign (carpal spasm with blood pressure cuff inflation).
    • There is also no thymus shadow on X-ray.

    Diabetic Complications

    • Aldose reductase converts glucose into sorbitol, which is then metabolized to fructose by sorbitol dehydrogenase.
    • Chronic hyperglycemia overwhelms this pathway, causing intracellular sorbitol accumulation.
    • This accumulation leads to diabetic retinopathy, neuropathy, and nephropathy.

    Chronic Granulomatous Disease

    • Suspect in children with recurrent infections caused by catalase-positive organisms (e.g., Staphylococcus aureus, Aspergillus).
    • These children have normal immunoglobulins and no leukopenia.
    • Pathogenesis involves defective intracellular killing of phagocytosed organisms within neutrophils due to an impaired respiratory burst.

    Fetal Hydronephrosis

    • Most commonly caused by inadequate canalization of the ureter at the ureteropelvic junction.

    Intermittent Explosive Disorder

    • Characterized by recurrent episodes of explosive verbal or physical aggression.
    • The aggressive behaviors are impulsive and disproportionate to the provocation.

    Lung Changes During Aging

    • Lungs become more compliant, indicating loosening of tissue.
    • Respiratory system compliance decreases and deadspace increases.

    Chronic Obstructive Pulmonary Disease (COPD) Flow Volume Loop

    • Has a scooped-out appearance.

    Hand, Foot, and Mouth Disease

    • Caused by Coxsackievirus

    Slapped Cheek Rash

    • Caused by Parvovirus

    Hyper IgE Syndrome

    • Characterized by elevated IgE levels.
    • Caused by impaired neutrophil activation and migration due to a defect in T helper cell type 17 cells.
    • Typical findings include noninflammatory abscesses, recurrent sinopulmonary infections, and chronic atopic dermatitis.

    Sleep Stages

    • Delta waves (non-REM stage 3) occur during the first half of the night, associated with sleepwalking and night terrors.
    • REM sleep occurs during the second half of the night, characterized by wakefulness on EEG, muscle atonia, vivid dreams, and is associated with REM sleep behavior disorders and nightmare disorder.

    Oxygen Transport

    • In the lungs, oxygen binding to hemoglobin drives the release of hydrogen ions (H+) and carbon dioxide (CO2) from hemoglobin (Haldane effect).
    • In the peripheral tissues, high CO2 and H+ concentrations facilitate oxygen unloading from hemoglobin (Bohr effect).

    Developmental Abnormalities

    • Agenesis: complete absence of an organ
    • Malformation: defect in organogenesis (e.g., spina bifida, holoprosencephaly)
    • Dysplasia: abnormal organization of cells within a tissue (e.g., skeletal dysplasia)

    Toxic Shock Syndrome

    • Staphylococcus aureus replicates and releases pyrogenic toxin superantigens.
    • These antigens bind to the MHC-II complex of antigen-presenting cells and nonspecifically activate T cells.

    Congenital Infections

    • Toxoplasmosis: chorioretinitis, hydrocephalus, diffuse intracranial calcifications
    • Syphilis: rhinorrhea, skeletal anomalies
    • Rubella: cataracts, heart defects, sensorineural hearing loss
    • Cytomegalovirus: periventricular calcifications, microcephaly, sensorineural hearing loss

    Rubella

    • Typically presents with polyarthritis, rash, and postauricular lymphadenopathy.

    Collagen

    • Glycine is the most abundant amino acid in collagen.

    Extrapyramidal Symptoms

    • Acute extrapyramidal symptoms (e.g., dystonia, akathisia, parkinsonism) are due to D2 blockage in the nigrostriatal pathway.
    • First-generation antipsychotics like haloperidol and fluphenazine block D2 receptors and are more likely to cause extrapyramidal symptoms.

    Gastric Acid Neutralization

    • Gastric acid is neutralized by bicarbonate from the submucosal (Brunner's) glands of the duodenum and pancreatic duct secretions.
    • Chronic overproduction of gastric acid can lead to hyperplasia of the submucosal glands.

    Bronchial Circulation

    • The lungs are supplied by dual circulation from both the pulmonary and bronchial arteries.
    • This collateral circulation helps protect against lung infarction due to pulmonary artery occlusion (PE).
    • The bronchial circulation can continue to provide blood to the lung parenchyma.

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    Description

    This quiz covers various genetic concepts including genetic heterogeneity, anticipation in inherited conditions, and specific metabolic processes. It discusses conditions like DiGeorge Syndrome and human herpesvirus, along with their clinical presentations and implications. Test your knowledge on key genetic disorders and their mechanisms.

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