Genetics and Child Development Quiz

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]