Bms Midterm Flashcards

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1
Q

Familial hypercholesterolemia is caused by

A

Mutations in LDL receptor and Pcsk9 gene

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2
Q

According to x linked genes, males are

A

Hemizygotes

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3
Q

What bacteria can cause neonatal meningitis

A

Listeria monocytogenes

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4
Q

What is a characteristic sigh of cystic fibrosis

A

High level of salt in sweat

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5
Q

Runners load up on glycogen, alpha amylase breaks down starch into

A

Limit dextrins

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6
Q

75 year old smoker

A

Haemophilus influenzae

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7
Q

Hepatic steatosis occurs in conditions in which there is

A

A defect in MTP activity

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8
Q

primary function of alpha 1 antitrypsin

A

Bind and inhibit elastase

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9
Q

Bartonella is known as

A

Cat scratch disease

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10
Q

Dmd, duchenne muscular dystrophy is x linked, it is

A

Sex linked recessive

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11
Q

What organs does cf primarily effect

A

Lungs and pancreas

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12
Q

Honey crust lesions, what test is needed

A

Catalase test

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13
Q

What allows bacteria to attach to mucosal membranes

A

Pilus

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14
Q

Superantigen of staphylococcus aureus causes

A

Toxic shock syndrome

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15
Q

What causes anemia in sickle cell disease

A

Abnormal haemoglobin which polymerises and irreversibly injures the red blood cell

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16
Q

What autosomal recessive disorder causes pale foul smelling stools, pneumonia and salty skin

A

Cystic fibrosis

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17
Q

What structure is in gram neg but not gram positive

A

Outer membrane

18
Q

Difference between corynebacteria diphtheria and nonpathogenic normal flora diphtheria is

A

A diphthamide on eef2

19
Q

Large gram positive rod are also spore forming

A

Bacillus

20
Q

Patients with deficiency of LPL or apo C-ii show a large accumulation of

A

VLDL in plasma

21
Q

What causes oily stools in babies

A

Pancreatic lipase enzyme deficiency

22
Q

What club shaped gram positive rod causes disease by producing an exotoxin that kills cells by inhibiting elongation factor 2 leading to protein synthesis inhibition

A

Corynebacterium diphtheriae

23
Q

Most accurate about transposons

A

Encode enzymes that degrade ends of bacterial chromosome

24
Q

What change in the polypeptide chain is a characteristic of Hbs

A

Glu6val

25
Q

what enzyme deficiency causes homocystinuria

A

cystathionine beta-synthase

26
Q

What is not a characteristic of cystic fibrosis

A

Progressive neurodegeneration and muscle atrophy

27
Q

What disease is caused by lack of triglyceride transfer

A

Abetalipoproteinemia

28
Q

What ion is measured for cystic fibrosis diagnosis

A

Chloride ions in sweat test

29
Q

Microsomal triglyceride transfer protein is responsible for

A

Assembly of chylomicrons in endoplasmic reticulum of intestinal epithelial cells

30
Q

After specialised transduction, if bacterial genes transferred are to be stabilised, what process must occur

A

Homologous recombination

31
Q

Familial hypercholesterolemia is

A

Pure dominant inheritance

32
Q

Which apo protein activates LPL

A

Apo C II

33
Q

What do bile salts inhibit

A

Pancreatic lipase

34
Q

Which disease affects enzyme that removes sugar side chains from long chain lipids

A

Tay sachs

35
Q

Patients that are homozygotic for apo e2 are deficient in

A

Clearance of chylomicron remnants and LDL

These individuals have familial type 3hyperlipoproteinemia

36
Q

Dominant Huntington gene for one parents what’s the probability their child will have it

A

0.5

37
Q

True statement about a chains

A

Clustered randomly on chromosome 16

38
Q

What allows bacteria to adhere to medical devices

A

Glycocalyx

39
Q

BMD is characterised by later onset and slower progression

A
40
Q

What bacterial component exhibits most antigenic variation

A

Lipid a

41
Q

Function of pcsk9

A

controls the number of low-density lipoprotein receptors

PCSK9 is a protease that degrades the LDLR, thereby regulating its expression

42
Q

homocystinuria is caused by

A

reduced activity of an enzyme cystathionine beta-synthase