Genetics and Child Development Quiz
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Questions and Answers

What is a characteristic finding in Goodpasture syndrome?

  • Pacemaker abnormalities on ECG
  • Presence of anti-nuclear antibodies
  • Linear deposits of IgG and C3 along the glomerular basement membrane (correct)
  • Increased levels of creatinine kinase

Which condition is associated with a holosystolic murmur at the left lower sternal border?

  • Ventricular septal defect (correct)
  • Aortic stenosis
  • Tricuspid stenosis
  • Mitral regurgitation

Which enzyme deficiency is associated with alkaptonuria?

  • Homogentistic acid dioxygenase (correct)
  • Tyrosinase
  • Phenylalanine hydroxylase
  • Fumarase

Which of the following describes the clinical implications of Kartagener syndrome?

<p>It leads to situs inversus and respiratory infections due to primary ciliary dyskinesia. (A)</p> Signup and view all the answers

What symptom is indicative of impaired beta oxidation of fatty acids?

<p>Hypoglycemia after prolonged fasting (C)</p> Signup and view all the answers

What is the primary enzyme affected by alactokinase deficiency leading to the symptoms of galactosemia?

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

What is the most common phenotypic presentation associated with Edward syndrome?

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

Which of the following hormones is secreted by the zona fasciculata of the adrenal cortex?

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

What is the primary consequence of hypertrophic cardiomyopathy observed during maneuvers that increase left ventricular (LV) volume?

<p>Decreased murmur intensity (D)</p> Signup and view all the answers

What type of signaling is primarily associated with the action of glucagon and ADH at their respective receptors?

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

Study Notes

Galactosemia

  • Deficiency of alactokinase leads to galactosemia
  • Galactosemia results in accumulation of galactitol which leads to cataracts
  • Reducing agents are found in urine of patients with galactosemia

Patau Syndrome

  • Patau syndrome is trisomy 13
  • Maternal defects include:
    • Holoprosencephaly
    • Microphthalmia
    • Omphalocele
    • Polydactyly

Edward Syndrome

  • Edward syndrome is trisomy 18
  • Features include:
    • Clenched hands
    • Meckel's diverticulum
    • Malrotation

Child Development Milestones at Age 3

  • A 3-year-old child should be able to:
    • Ride a tricycle
    • Play with others
    • Speak in simple sentences
  • Fine motor milestones include:
    • Copying a circle
    • Helping to dress oneself
    • Using utensils

Vibrio Vulnificus Infection

  • Vibrio vulnificus is a gram-negative bacteria
  • Infection occurs through ingestion of raw oysters or injury in water
  • Those with liver disease and iron overload are at increased risk
  • Complications include sepsis and necrotizing fasciitis

Adrenal Cortex

  • Consists of three layers:
    • Glomerulosa: releases mineralocorticoids
    • Fasciculata: releases glucocorticoids (e.g., cortisol)
    • Reticularis: releases androgens

Adrenal Medulla

  • Composed of chromaffin cells derived from neural crest cells
  • Stimulated by acetylcholine and secrete catecholamines

Hypertrophic Cardiomyopathy

  • Autosomal dominant condition
  • Standing and Valsalva maneuver decrease LV volume, worsening the murmur
  • Handgrip, squatting, and leg raise increase LV volume, lessening the murmur

Thyroid Gland

  • Develops from an evagination of the pharyngeal epithelium
  • Descends to the lower neck
  • Failure of migration can lead to a lingual thyroid

Cerebellar Hemisphere Lesions

  • Result in ipsilateral:
    • Dysdiadochokinesia
    • Limb dysmetria
    • Intention tremor

Signal Transduction Pathways

  • JAKSTAT pathway:
    • Involved in EPO signal transduction seen in normocytic anemia
  • Cyclic AMP:
    • Activated by glucagon, ADH (V2 receptor), and corticotrophin
  • Phospholipase A2:
    • Activated by glucocorticoids, nonsteroidal anti-inflammatory drugs, and leukotriene inhibitors
  • Nuclear receptors:
    • Activated by thyroid hormone, vitamin A and D, and steroid hormones
  • Phosphatidylinositol:
    • Activated by ADH (V1 receptor), GnRH, and oxytocin

Haemophilus Influenzae Vaccine

  • Capsular polysaccharide conjugated to a carrier protein (e.g., toxoid)
  • Protein conjugation elicits a T cell-mediated immune response
  • Long-term immunity through production of memory B lymphocytes

Nosocomial Bloodstream Infections

  • Often associated with intravascular catheters
  • Permit entry of skin commensals like Staphylococcus aureus and coagulase-negative staphylococci

Fetal Circulation Changes at Birth

  • Decreased pulmonary vascular resistance (due to oxygenation and ventilation)
  • Increased systemic vascular resistance (due to umbilical clamping)
  • Reverse shunting through ductus arteriosus (left-to-right)

Morbilliform Drug Eruption

  • Type IV hypersensitivity reaction
  • Caused by drugs like anticonvulsants
  • Symmetrically affects the trunk and extremities
  • Often accompanied by low-grade fever

Impaired Beta Oxidation of Fatty Acids

  • Leads to hypoglycemia after prolonged fasting
  • Insufficient levels of ketone bodies
  • Acyl CoA dehydrogenase deficiency is the most common cause

Ventricular Septal Defect

  • Presents with a holosystolic murmur at the left lower sternal border
  • Causes left-to-right shunting of oxygenated blood
  • Results in increased right ventricular oxygen saturation

Goodpasture Syndrome

  • Autoimmune disorder characterized by:
    • Anti-glomerular basement membrane antibodies
    • Rapidly progressive glomerulonephritis
    • Glomerular crescent formation on light microscopy
    • Linear deposits of IgG and C3 along GBM on immunofluorescence
  • Presents with glomerulonephritis and pulmonary hemorrhage

Greater Trochanter of the Femur

  • Insertion site for the gluteus medius muscle
  • Responsible for hip abduction
  • Damage can lead to a positive Trendelenburg sign

Alkaptonuria

  • Autosomal recessive disorder caused by homogentistic acid dioxygenase deficiency
  • Deficiency leads to accumulation of homogentitic acid
  • Presents with:
    • Blue-black deposits in the sclera
    • Darkening of cartilage
    • Osteoarthropathy

Haemophilus Influenzae

  • Gram-negative bacteria
  • Requires X factor (hematin) and NAD+ for growth
  • Can grow on S aureus colonies that produce these factors

Kartagener Syndrome

  • Also known as primary ciliary dyskinesia
  • Presents with:
    • Situs inversus
    • Chronic respiratory infections
    • Infertility
  • Differentiate from cystic fibrosis, which also causes chronic respiratory infections but not situs inversus

Chikungunya

  • Alphavirus transmitted by mosquitos
  • Found in tropical and subtropical areas
  • Presents with:
    • Fever
    • Rash
    • Polyarthralgia

Porphyria Cutanea Tarda

  • Caused by uroporphyrinogen decarboxylase deficiency
  • Clinical manifestations include:
    • [To be filled in, please provide more information about clinical manifestations of Porphyria Cutanea Tarda]

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Description

Test your knowledge on genetic disorders such as Galactosemia, Patau Syndrome, and Edward Syndrome. Additionally, assess your understanding of child development milestones at age 3 and the Vibrio vulnificus infection. This quiz covers important topics in genetics and pediatrics.

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