Podcast
Questions and Answers
What is a characteristic finding in Goodpasture syndrome?
What is a characteristic finding in Goodpasture syndrome?
Which condition is associated with a holosystolic murmur at the left lower sternal border?
Which condition is associated with a holosystolic murmur at the left lower sternal border?
Which enzyme deficiency is associated with alkaptonuria?
Which enzyme deficiency is associated with alkaptonuria?
Which of the following describes the clinical implications of Kartagener syndrome?
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?
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?
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?
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?
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?
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?
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.
