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Questions and Answers
What is a characteristic finding in Goodpasture syndrome?
Which condition is associated with a holosystolic murmur at the left lower sternal border?
Which enzyme deficiency is associated with alkaptonuria?
Which of the following describes the clinical implications of Kartagener syndrome?
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What symptom is indicative of impaired beta oxidation of fatty acids?
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What is the primary enzyme affected by alactokinase deficiency leading to the symptoms of galactosemia?
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What is the most common phenotypic presentation associated with Edward syndrome?
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Which of the following hormones is secreted by the zona fasciculata of the adrenal cortex?
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What is the primary consequence of hypertrophic cardiomyopathy observed during maneuvers that increase left ventricular (LV) volume?
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What type of signaling is primarily associated with the action of glucagon and ADH at their respective receptors?
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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.
