Academic Week 5 Flashcards
How does the influenza virus target humans?
Influenza targets the human respiratory epithelial cells via alpha 2,3 and alpha 2,6 silica acid receptors.
What is the definition of screening?
Screening is defined as the process of identifying apparently healthy people who are at increased risk of a condition. This provides information which informs further testing and appropriate treatment.
What is positive predictive value?
Percentage chance that a negative test result is a true negative for the disease
What is negative predictive value?
Percentage chance that a positive test result is a true positive result
What is test sensitivity?
Tests ability to detect a particular substance
What is test specificity?
Test result is wholly attributable to a particular substance
What does elevated Ca-99 indicate?
Pancreatic cancer
How is sensitivity calculated?
TP/ (TP+FN)
How is specificity calculated?
TN/ (TN+FP)
How is Positive Predictive Value calculated?
TP/ (TP+FP)
How is Negative Predicative Value calculated?
TN/ (TN+FN)
What are the three main categories screened for in antenatal testing?
- Sickle cell disease / Thalassaemia
- Foetal anomaly: USS at 20 weeks and Trisomy 13,18 and 21
- Infectious diseases: Hep B, Syphilis, Rubella and HIV
When is chorionic villus sampling or amniocentesis offered?
To parents whose child is deemed to have a risk of Trisomy 21 higher than 1/150
What are the three parts of newborn screening?
NIPE
Newborn hearing test
Bloodspot tests
What diseases are tested for in the newborn bloodspot test?
Sickle cell disease, congenital hypothyroidism, cystic fibrosis, PKU, homocystinuria, glutaric acuduria type 1, isovaleric aciduria, medical chain acyl coA dehydrogenase deficiency and maple syrup urine disease
When is the heal prick tired bloodspot taken?
Between 5-8 days
Describe congenital hypothyroidism
Congenital Hypothyroidism is treatable and is usually sporadic. Not treating this is serious. The majority of cases are primary with elevated TSH and low free T4. Classic symptoms of hypothyroidism. First line test is TSH and then T4 and finally thyroid imaging if needed.
Why is cystic fibrosis tested for?
Cystic fibrosis occurs in 1/2500. There is evidence to say life expectancy is improved with early detection. It is tested for with immunoreactive trypsinogen. If positive result then genetic testing for the four most common cystic fibrosis gene mutations is undergone.
Describe PKU (Phenylketonuria)
Phenylketonuria (PKU) is an autosomal recessive condition caused by a deficiency of the enzyme phenylalanine hydroxylase, so the phenylalanine is not metabolised to tyrosine. Symptoms can include mental retardation, seizures, limb spasticity, musty odour, microcephaly and hypopigmentation. If treated all these symptoms will be avoided. It occurs in 1/10,000. Greater than 240mmol/L of phenylalanine are investigated further after the bloodspot.
What is the definition of immunosuppression?
Immunosuppression is defined as suppression of the body’s immune system and its ability to fight infections and other diseases. This is done in patients with transplants and treatment of autoimmune disease. Immunosuppression may be intentionally caused by drugs or caused by disease such as AIDS, lymphoma and bone marrow disorders.
Why is immunosuppression dangerous?
Immunosuppresion is a problem because of the increased risk of infection, delayed wound healing, cancer risk due to poor immunological surveillance of host cells, interactions with other medications and use for unlicensed indications.
All patients should have screening before taking immunosuppression. This includes viral screen for HIV, Hep B and Hep C, quantiferon test to exclude TB, CXR and advise about specific side effects of the individual drug.
Give an example of a drug which causes general immunosuppression
Corticosteroids such as prednisolone.
These inhibit inflammatory response and cytokine expression via gene transcription
Give an example of a calcinuerin inhibitor and what is its mechanism of action?
Ciclosporin inhibits calcineurin phosphatase and T cell activation
Give an example of an anti-metabolite and what is its mechanism of action?
Azathioprine and methotrexate interfere with DNA synthesis to cause immunosuppression