Genetic Disorders and Milestones Quiz
40 Questions
9 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the primary consequence of galactokinase deficiency?

  • Accumulation of galactose leading to liver failure.
  • Accumulation of fructose causing metabolic disorders.
  • Increased production of glucose causing diabetes.
  • Accumulation of galactitol resulting in cataracts. (correct)

    • Which of the following symptoms is NOT associated with Patau syndrome (trisomy 13)?

  • Polydactyly
  • Clenched hands (correct)
  • Holoprosencephaly
  • Microphthalmia

    • Which developmental milestone is expected for a child by age 3?

  • Manage zippers and buttons.
  • Write simple sentences.
  • Solve complex puzzles independently.
  • Ride a tricycle. (correct)

    • What condition significantly increases the risk of sepsis and necrotizing fasciitis upon infection with vibrio vulnificus?

    <p>Iron overload and liver disease.</p> Signup and view all the answers

    What type of hormones are released by the adrenal cortex's zona glomerulosa?

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

    The JAKSTAT signaling pathway is primarily associated with which of the following?

    <p>EPO signal transduction in normocytic anemia.</p> Signup and view all the answers

    Which of the following mechanisms is associated with glucocorticoids?

    <p>Nuclear receptor signaling.</p> Signup and view all the answers

    What is a classic characteristic of hypertrophic cardiomyopathy?

    <p>Murmur worsened by increased left ventricular volume.</p> Signup and view all the answers

    Which hormone's signaling involves phosphatidylinositol as a second messenger?

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

    Which of the following is true regarding the thyroid gland's development?

    <p>It develops from the pharyngeal epithelium.</p> Signup and view all the answers

    What is the consequence of a ventricular septal defect regarding blood flow in the heart?

    <p>Left to right shunting of oxygenated blood</p> Signup and view all the answers

    Which enzyme deficiency is primarily responsible for alkaptonuria?

    <p>Homogentistic acid dioxygenase</p> Signup and view all the answers

    In Goodpasture syndrome, what characterizes the immunofluorescence findings?

    <p>Linear deposits of IgG and C3 along the glomerular basement membrane</p> Signup and view all the answers

    What condition is characterized by situs inversus and chronic respiratory infections?

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

    What is the common pathogenic characteristic of Haemophilus influenzae?

    <p>It requires X (hematin) and NAD+ for growth</p> Signup and view all the answers

    Which of the following describes morbilliform drug eruptions?

    <p>Type IV hypersensitivity reaction</p> Signup and view all the answers

    Which statement correctly describes the change in vascular resistance at birth?

    <p>Pulmonary vascular resistance decreases while systemic increases</p> Signup and view all the answers

    What is the primary result of impaired beta oxidation of fatty acids?

    <p>Hypoglycemia and insufficient levels of ketone bodies</p> Signup and view all the answers

    What clinical sign may indicate damage to the gluteus medius muscle?

    <p>Positive Trendelenburg sign</p> Signup and view all the answers

    What symptoms are characteristic of Chikungunya virus infection?

    <p>Fever, rash, and polyarthralgia</p> Signup and view all the answers

    Galactokinase deficiency leads to the accumulation of ______, resulting in cataracts.

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

    Patau syndrome is characterized by defects such as holoprosencephaly and ______.

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

    In Edward syndrome, a notable feature is ______ hands.

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

    Vibrio vulnificus infection increases the risk of ______ in individuals with liver disease.

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

    The adrenal cortex has layers known as GFR, which stand for glomerulosa, fasciculata, and ______.

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

    Chromaffin cells in the adrenal medulla secrete ______ upon stimulation.

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

    Hypertrophic cardiomyopathy is inherited in an ______ manner.

    <p>autosomal dominant</p> Signup and view all the answers

    The thyroid gland originates from the evagination of the pharyngeal ______.

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

    Cyclic AMP is a signaling pathway for hormones like glucagon and ______.

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

    The vaccine for Haemophilus influenzae is made using capsular polysaccharide conjugated to a ______.

    <p>carrier protein</p> Signup and view all the answers

    Protein conjugation causes a T cell mediated immune response leading to long term immunity through production of memory ______ lymphocytes.

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

    Nosocomial blood stream infections are usually associated with intravascular ______ which allow skin commensals to enter the blood stream.

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

    At birth, decreased pulmonary vascular resistance and increased systemic vascular resistance due to ______ clamping reverse shunting through ductus arteriosus.

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

    Impaired beta oxidation of fatty acids causes ______ after prolonged fasting and insufficient levels of ketone bodies.

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

    A ventricular septal defect shows a holosystolic murmur at the left lower ______ border.

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

    Anti glomerular basement membrane antibodies react with collagen type ______ causing rapidly progressive glomerulonephritis.

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

    The greater ______ of the femur serves as the site of insertion for the gluteus medius muscle.

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

    Alkaptonuria is caused by a deficiency of homogentistic acid ______, an enzyme involved in tyrosine metabolism.

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

    Haemophilus influenza requires ______ and NAD+ to grow, which makes it a blood-loving organism.

    <p>X(hematin)</p> Signup and view all the answers

    Chikungunya is an alphavirus transmitted by ______ in tropical and subtropical areas.

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

    Study Notes

    Galactosemia

    • Galactokinase deficiency leads to galactosemia.
    • Galactosemia results in the accumulation of galactitol.
    • Galactitol causes cataracts.
    • Reducing agents are present in the urine of patients with galactosemia.

    Patau Syndrome

    • Patau syndrome is a genetic disorder caused by trisomy 13.
    • Patau syndrome results in maternal defects like holoprosencephaly, microphthalmia, omphalocele, and polydactyly.

    Edward Syndrome

    • Edward syndrome is a genetic disorder caused by trisomy 18.
    • Edward syndrome results in clenched hands, Meckel's diverticulum, and malrotation.

    3-Year-Old Developmental Milestones

    • A 3-year-old child is expected to ride a tricycle, play with others, and speak in simple sentences.
    • Fine motor milestones for a 3-year-old include the ability to copy a circle, help dress themselves and use utensils.

    Vibrio Vulnificus Infections

    • Vibrio vulnificus is a gram-negative bacterium.
    • People can become infected by eating raw oysters or experiencing an injury in contaminated water.
    • Individuals with liver disease and iron overload are at increased risk of V. vulnificus infection.
    • V. vulnificus infections can cause sepsis and necrotizing fasciitis.

    Adrenal Cortex

    • The adrenal cortex is composed of three zones: glomerulosa, fasciculata, and reticularis.
    • The glomerulosa zone releases mineralocorticoids like aldosterone.
    • The fasciculata zone releases glucocorticoids like cortisol.
    • The reticularis zone releases androgens.

    Adrenal Medulla

    • The adrenal medulla has chromaffin cells.
    • Chromaffin cells are derived from neural crest cells.
    • Chromaffin cells are stimulated by acetylcholine.
    • Chromaffin cells secrete catecholamines like epinephrine and norepinephrine.

    Hypertrophic Cardiomyopathy

    • Hypertrophic cardiomyopathy is an autosomal dominant disorder.
    • Standing and Valsalva maneuver decrease left ventricular volume which worsens the murmur.
    • Handgrip, squatting, and leg raise increase left ventricular volume and lessen the murmur.

    Thyroid Gland

    • The thyroid gland develops from the evagination of the pharyngeal epithelium.
    • The thyroid gland descends to the lower neck.
    • Failure of thyroid gland migration can lead to a lingual thyroid, where it resides within the tongue.

    Cerebellar Hemisphere Lesions

    • Cerebellar hemisphere lesions result in ipsilateral dysdiadochokinesia, limb dysmetria, and intention tremor.

    JAKSTAT Signaling Pathway

    • The JAKSTAT signaling pathway is involved in the signal transduction of erythropoietin (EPO).
    • EPO is important for red blood cell production.

    Cyclic AMP Pathway

    • Glucagon, antidiuretic hormone (ADH) via the V2 receptor, and corticotropin use the cyclic AMP signaling pathway.

    Phospholipase A2 Pathway

    • Glucocorticoids, nonsteroidal anti-inflammatory drugs, and leukotriene inhibitors use the Phospholipase A2 pathway.

    Nuclear Receptor Pathway

    • Thyroid hormone, vitamin A and D, and steroid hormones all use the nuclear receptor pathway.

    Phosphatidylinositol Pathway

    • ADH via the V1 receptor, gonadotropin-releasing hormone (GnRH), and oxytocin all use the phosphatidylinositol signaling pathway.

    Haemophilus Influenzae Vaccine

    • Haemophilus influenzae vaccines contain capsular polysaccharide conjugated to a carrier protein, like a toxoid.
    • Protein conjugation elicits a T-cell-mediated immune response.
    • This response leads to long-term immunity due to the production of memory B lymphocytes.

    Nosocomial Bloodstream Infections

    • Nosocomial bloodstream infections often arise due to intravascular catheters.
    • These catheters allow skin commensals like S. aureus and coagulase-negative staphylococci to enter the bloodstream.

    Neonatal Pulmonary Circulation Changes

    • At birth, pulmonary vascular resistance decreases because of lung ventilation and oxygenation.
    • Systemic vascular resistance increases due to umbilical clamping.
    • These changes reverse the shunting through the ductus arteriosus (left-to-right shunting).

    Morbilliform Drug Eruption

    • Morbilliform drug eruption is a Type IV hypersensitivity reaction.
    • It is often caused by medications like anticonvulsants.
    • It presents symmetrically on the trunk and extremities.
    • A low-grade fever may accompany morbilliform drug eruption.

    Impaired Beta Oxidation of Fatty Acids

    • Impaired beta-oxidation of fatty acids results in hypoglycemia after prolonged fasting.
    • There are insufficient levels of ketone bodies in this situation.
    • Acyl-CoA dehydrogenase catalyzes the first step in the beta-oxidation pathway.
    • Acyl-CoA dehydrogenase deficiency is the most common enzyme deficiency causing impaired beta-oxidation.

    Ventricular Septal Defect

    • A ventricular septal defect causes a holosystolic murmur at the left lower sternal border.
    • It results in left-to-right shunting of oxygenated blood from the left ventricle to the right ventricle.
    • Therefore, right ventricular oxygen saturation is increased compared to normal.

    Goodpasture Syndrome

    • Anti-glomerular basement membrane antibodies react with collagen type IV causing rapidly progressive glomerulonephritis.
    • Light microscopy reveals glomerular crescent formation.
    • Characteristic immunofluorescence shows linear deposits of IgG and C3 along the glomerular basement membrane (GBM).
    • Goodpasture syndrome is defined by glomerulonephritis and pulmonary hemorrhage.

    Greater Trochanter of the Femur

    • The greater trochanter of the femur is the insertion point for the gluteus medius muscle.
    • The gluteus medius muscle is responsible for hip abduction.
    • Damage to the gluteus medius muscle or its insertion site can lead to a positive Trendelenburg sign.

    Alkaptonuria

    • Alkaptonuria is an autosomal recessive disorder.
    • It is caused by a deficiency of homogentistic acid dioxygenase.
    • Homogentistic acid dioxygenase is an enzyme involved in tyrosine metabolism.
    • Excess homogentisic acid can cause blue-black deposits in the sclera and darkening of cartilage.
    • Alkaptonuria can also lead to osteoarthropathy.

    Haemophilus Influenzae

    • Haemophilus influenzae is a gram-negative bacterium.
    • It is a blood-loving organism and requires hematin (X factor) and NAD+ for growth.
    • Haemophilus influenzae can grow on colonies of S. aureus, which produce these factors.

    Kartagener Syndrome

    • Kartagener syndrome is a form of primary ciliary dyskinesia.
    • It causes situs inversus, chronic respiratory infections, and infertility.

    Cystic Fibrosis

    • Cystic fibrosis causes chronic respiratory infections, but not situs inversus.

    Chikungunya

    • Chikungunya is an alphavirus.
    • It is transmitted by mosquitos in tropical and subtropical regions.
    • Chikungunya causes fever, rash, and polyarthralgia.

    Galactokinase Deficiency

    • Galactokinase deficiency leads to galactosemia, characterized by the accumulation of galactitol, which causes cataracts.
    • The condition also results in reducing agents present in the urine.

    Patau Syndrome (Trisomy 13)

    • Patau Syndrome is a chromosomal disorder caused by trisomy 13.
    • This condition leads to various congenital defects, including holoprosencephaly, microphthalmia, omphalocele, and polydactyly.

    Edward Syndrome

    • Edward syndrome is a chromosomal disorder caused by trisomy 18.
    • Common features of Edward syndrome include clenched hands, Meckel's diverticulum, and malrotation.

    Developmental Milestones at Age 3

    • By the age of 3, children typically achieve various developmental milestones, such as riding a tricycle, playing with others, and speaking in simple sentences.
    • Fine motor skills at this age include copying a circle, helping with dressing, and using utensils.

    Vibrio Vulnificus Infection

    • Vibrio vulnificus is a gram-negative bacterium that can infect humans through the consumption of raw oysters or through injuries sustained in contaminated water.
    • Individuals with liver disease and iron overload are particularly at risk for severe complications, including sepsis and necrotizing fasciitis.

    Adrenal Cortex

    • The adrenal cortex is divided into three zones: the glomerulosa, fasciculata, and reticularis.
    • The glomerulosa layer produces mineralocorticoids, the fasciculata layer secretes glucocorticoids like cortisol, and the reticularis layer produces androgens.

    Adrenal Medulla

    • The adrenal medulla contains chromaffin cells, which are derived from neural crest cells.
    • Chromaffin cells are stimulated by acetylcholine and release catecholamines.

    Hypertrophic Cardiomyopathy

    • Hypertrophic cardiomyopathy is an autosomal dominant disorder characterized by thickening of the heart muscle.
    • Standing and the Valsalva maneuver decrease left ventricular volume, worsening the murmur associated with the condition.
    • Conversely, handgrip, squatting, and leg raise increase left ventricular volume, reducing the murmur.

    Thyroid Gland

    • The thyroid gland originates from an evagination of the pharyngeal epithelium and descends to the lower neck during development.
    • In cases where migration fails, the thyroid may remain anywhere along the thyroglossal duct's usual path, including the tongue, leading to a lingual thyroid.

    Cerebellar Hemisphere Lesions

    • Damage to the cerebellar hemispheres results in ipsilateral dysdiadochokinesia, limb dysmetria, and intention tremor.

    JAKSTAT Pathway

    • The JAKSTAT pathway is involved in erythropoietin (EPO) signal transduction, which plays a role in normocytic anemia.

    Cyclic AMP (cAMP) Signaling

    • Glucagon, antidiuretic hormone (ADH) acting on the V2 receptor, and corticotrophin utilize cAMP as a second messenger.

    Phospholipase A2 Activation

    • Glucocorticoids, nonsteroidal anti-inflammatory drugs (NSAIDs), and leukotriene inhibitors act by activating phospholipase A2.

    Nuclear Receptor Signaling

    • Thyroid hormone, vitamin A and D, and steroid hormones utilize nuclear receptors for signaling.

    Phosphatidylinositol Signaling

    • ADH (acting on the V1 receptor), gonadotropin-releasing hormone (GnRH), and oxytocin employ phosphatidylinositol signaling.

    Haemophilus influenzae Vaccine

    • The Haemophilus influenzae vaccine contains capsular polysaccharide conjugated to a carrier protein such as a toxoid.
    • Protein conjugation induces a T cell-mediated immune response, leading to long-term immunity through the production of memory B lymphocytes.

    Nosocomial Bloodstream Infections

    • Nosocomial bloodstream infections are frequently associated with intravascular catheters.
    • These catheters provide a pathway for skin commensals, such as Staphylococcus aureus and coagulase-negative staphylococci, to enter the bloodstream.

    Fetal Circulation and Ductus Arteriosus Closure

    • At birth, oxygenation and ventilation of the lungs cause a decrease in pulmonary vascular resistance.
    • Simultaneously, umbilical clamping leads to an increase in systemic vascular resistance.
    • These changes reverse the left-to-right shunting through the ductus arteriosus.

    Morbilliform Drug Eruption

    • Morbilliform drug eruption is a type IV hypersensitivity reaction triggered by medications like anticonvulsants.
    • It presents as a symmetrical rash on the trunk and extremities, sometimes accompanied by low-grade fever.

    Impaired Beta Oxidation of Fatty Acids

    • Impaired beta oxidation of fatty acids results in hypoglycemia after prolonged fasting and insufficient ketone body production.
    • Acyl CoA dehydrogenase, the enzyme catalyzing the first step in beta oxidation, is the most commonly deficient enzyme in this condition.

    Ventricular Septal Defect

    • A ventricular septal defect (VSD) manifests as a holosystolic murmur heard at the left lower sternal border.
    • The defect causes left-to-right shunting of oxygenated blood from the left ventricle to the right ventricle, leading to increased oxygen saturation in the right ventricle.

    Goodpasture Syndrome

    • Anti-glomerular basement membrane antibodies react with collagen type IV, causing rapidly progressive glomerulonephritis.
    • This condition is characterized by glomerular crescent formation on light microscopy.
    • Immunofluorescence reveals linear deposits of IgG and C3 along the glomerular basement membrane (GBM).
    • Glomerulonephritis and pulmonary hemorrhage in these patients constitute Goodpasture Syndrome.

    Greater Trochanter and Gluteus Medius

    • The greater trochanter of the femur serves as the site of insertion for the gluteus medius muscle.
    • This muscle is responsible for hip abduction.
    • Damage to the gluteus medius can lead to a positive Trendelenburg sign, a characteristic gait abnormality.

    Alkaptonuria

    • Alkaptonuria is an autosomal recessive disorder caused by a deficiency of homogentistic acid dioxygenase, an enzyme involved in tyrosine metabolism.
    • The accumulation of homogentistic acid leads to blue-black deposits in the sclera (eyes) and darkening of cartilage, causing osteoarthropathy.

    Haemophilus influenzae

    • Haemophilus influenzae is a gram-negative bacteria that requires hematin (X factor) and NAD+ (V factor) for growth.
    • Because of these requirements, Haemophilus influenzae often grows in close proximity to Staphylococcus aureus colonies, which produce these factors.

    Kartagener Syndrome

    • Kartagener syndrome, also known as primary ciliary dyskinesia, is characterized by situs inversus, chronic respiratory infections, and infertility.
    • The condition is distinct from cystic fibrosis, which also causes chronic respiratory infections but does not involve situs inversus.

    Chikungunya Virus

    • Chikungunya is an alphavirus transmitted by mosquitos in tropical and subtropical regions.
    • The disease causes fever, rash, and polyarthralgia (joint pain).

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    Description

    Test your knowledge on genetic disorders like Patau and Edward syndrome, as well as metabolic conditions such as galactosemia. Additionally, assess your understanding of developmental milestones in young children and infections from Vibrio vulnificus. This quiz covers key concepts related to genetics and child development.

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser