Bms Midterm Flashcards
Familial hypercholesterolemia is caused by
Mutations in LDL receptor and Pcsk9 gene
According to x linked genes, males are
Hemizygotes
What bacteria can cause neonatal meningitis
Listeria monocytogenes
What is a characteristic sigh of cystic fibrosis
High level of salt in sweat
Runners load up on glycogen, alpha amylase breaks down starch into
Limit dextrins
75 year old smoker
Haemophilus influenzae
Hepatic steatosis occurs in conditions in which there is
A defect in MTP activity
primary function of alpha 1 antitrypsin
Bind and inhibit elastase
Bartonella is known as
Cat scratch disease
Dmd, duchenne muscular dystrophy is x linked, it is
Sex linked recessive
What organs does cf primarily effect
Lungs and pancreas
Honey crust lesions, what test is needed
Catalase test
What allows bacteria to attach to mucosal membranes
Pilus
Superantigen of staphylococcus aureus causes
Toxic shock syndrome
What causes anemia in sickle cell disease
Abnormal haemoglobin which polymerises and irreversibly injures the red blood cell
What autosomal recessive disorder causes pale foul smelling stools, pneumonia and salty skin
Cystic fibrosis