Bbc 2.0

Front 1

Familial hypercholesterimia pathogenesis?

Back 1

defective LDL receptor especially in the liver, hard time removing LDL cholesterol from blood stream= very high cholesterol in blood stream--> early onset artherosclerosis

Front 2

Diseases associated with familiar hypercholsteremia?

Back 2

angina, stable angina, MI, ischemia, PVD, stroke, artherosclerosis

Front 3

What is the cause for all these diseases with familial hypercholesterolemia?

Back 3

cholesterol deposits in wall, cholesterol stays in blood longer and leads to serious disease

Front 4

How familiar hypercholesteremia inherited?

Back 4

autosomal dominant

Front 5

what is it Familial adenomatous polyposis

Back 5

APC geneon chromosome 5q..tons of polyps in colon can develop into CRC

Front 6

What age is FAP usually discovered

Back 6

before age 35, disease of the young!

Front 7

What is spherocytosis

Back 7

sphere-shaped RBCS bc lack of spectrin

Front 8

Problem with shape of RBC in spherocytosis

Back 8

spleen can not take abnormal shape, can not remove them anymore, eventually get a splenectomy

Front 9

Is anything wrong with the function of these RBC?

Back 9

no 100% function just not bi-concave shaped

Front 10

Von Willebrand disease is what

Back 10

excessive bleeding bc no VWF factor

Front 11

What 2 things does a lack VWF effect

Back 11

can't attach to glycoprotein 1b or VIII..disrupts both wayts to form a clot

Front 12

What is ehlers-Danlos syndrom

Back 12

Connective tissue disease, many forms of abnormal collagen/elastin

Front 13

How will the patient appear in Ehlers-danlos

Back 13

hyperextensive skin and joints

Front 14

What is Marfan syndrome?

Back 14

fibrillin deficiencye, yielding defected microfibrils

Front 15

How does a pt look with marfan syndrome?

Back 15

tall thin, lens disolcation (CT in lens needs this), aortic dilation/aneurysms (microfibrils strengthen BV wall), arachnodactyly (long & slender fingers/toes) , mitral valve prolapse (can't sustain P so prolapse can lead to mitral regurgitation)

Front 16

What is the path of achondroplasi

Back 16

decreased chrondrocyte proliferation in growth plate of long bones, short bones

Front 17

What happens to the growth plate?

Back 17

early ossification- reach adolescents and won't grow anymore

Front 18

What if there's a fracture in the growth plate?

Back 18

will not grow anymore and scar tissue develops in site of fracture

Front 19

Neurofibromatosis 1 "Von Recklinghausen Disease"

Back 19

neurfibromas, optic nerve gliomas, pigmented nodules in iris, cafe au lait spots, axillary freckiling..neurologic tissue

Front 20

Neurofibromatosis 2

Back 20

acoustic neurofibromatosis- bilateral schqannomas on acoustic nerve, multiple meningiomas, hearing loss..

Front 21

Tuberous sclerosis

Back 21

hamartomas and benign tumors of brain, sprouts out like a potatoe..cysts of liver, kidney, & pancreas..red elevated lesions on benign tumors face..MR, facial, cutaneous lesions (shagreens' yellow patch pre-sacral/ ash leaf patches hypopigmented ash-leaf lesions)

Front 22

Von-Hippel Lindau

Back 22

high risk of RCC! capillary heamngiomas in cerebellum and retina...cysts of liver, kidney, & pancreas
CHeck RCC every time! Most get polycythemia bc too much erythropoiten...too much alkaline phosphatase

Front 23

Huntington's disease

Back 23

inherited- won't see symptoms till 30-40, degeneration of caudate nucleus, putamen, and frontal cortex
see chorea, psychiatric disturbance, cognitive decline--> death, trinucleotide repeat CAG on chromosome 4

Front 24

What do we anticipate with huntington's disease

Back 24

each generation has an earlier expression of it

Front 25

Polycystic kidney disease

Back 25

renal cysts early adulthood, high risk of berry anyeurms..anywhere cysts renal tubule loses function there..good if can get a kidney transplant

Front 26

What hapens if a berry anyeursm explodes

Back 26

subarachnoid hemorrhage- worst headache of my life- poor prognoosis

Front 27

Polycystic Kidney Disease

Back 27

kidney and liver cysts, fatal in infant

Front 28

Describe hemochromatosis

Back 28

small intestin take up excess iron, even w a normal diet

Front 29

Where does this excess iron usually deposit

Back 29

liver, pancreas, heart, & skin--> can lead to cirrhosis

Front 30

What are the complications of hemochromatosis

Back 30

cirhosis, cardiomyopathy, bronze-colored skin..."bronze diabetes"

Front 31

What is chediak-higashi syndrome

Back 31

WBC have abnormal microtubules, fault movement

Front 32

What do you see common with Chediak-Higashi syndrom

Back 32

recurrent infection, development of lymphoid cancers, partial albinism, neuropathy

Front 33

why do you get partial albinism with this syndrome

Back 33

cant make melanin- pigment skin/hair devoid- lighter complex

Front 34

Beranrd-soulier disease causes

Back 34

excessive bleeding due to lack of GpIb needed for platelet adhesion to VWF

Front 35

Glanzmann's THombasthemia

Back 35

results in excessive bleeding bc no gpIIbIIIa can not plate-plate adhese!

Front 36

Glucose-6Phosphate dehydroganse deficiency causes

Back 36

iability to eradicate radical oxygen species especially in RBC

Front 37

What enzyme do RBC use to eradicate radicals?

Back 37

glucose-6-phosphate dehydrogenase

Front 38

What happens to the RBC when G6PDHD is defieicnt

Back 38

they start hemolysising when excess radicals develop

Front 39

What drugs must you keep G6PD deficient people away from?

Back 39

sulfa-drugs, will incr radicals and incr hemolysis

Front 40

G6PD is crucial in what pathway?

Back 40

to make NADPH

Front 41

what happens if you have low NADPH

Back 41

glutathion stays oxidized which increases free radicals

Front 42

What are Heinz bodies?

Back 42

oxidized hemoglobins precipitates in RBCs

Front 43

what are bit cells?

Back 43

they come from phagocytic removal of Heinz bodies by splenic macrophages

Front 44

What is fragile X syndrome?

Back 44

structural defects in chromosome X... X = diff shape (dangly arm)

Front 45

What are the clinical findings associates with fragile X?

Back 45

MR, large ears & jaw, males= macroorchidism, 50% female have MR

Front 46

what is triple repeated?

Back 46

CGG..demonstrates acnticipation

Front 47

Fragile X

Back 47

X-large jaw, ears, testes

Front 48

What gene is this linked with expression and methylation?

Back 48

FMR1

Front 49

What type is Fabry disease?

Back 49

spingolipidosis, but x-linked! not AR

Front 50

What is decreased in fabry?

Back 50

alpha-galactosidase A

Front 51

What are the characteristics of Fabry

Back 51

angiojeratomoas (wart-like growth w telangiectasisa) and renal failure

Front 52

What is the unique thing with Fabry disease?

Back 52

won't see CNS dysfunction as much

Front 53

What is LEsch-Nyhan syndrome

Back 53

defective purine salavge due to deficiency of HGPRT

Front 54

Describe the salvaging of purines

Back 54

cells are constantly broken down and when they are they release DNA.. and its made up of purines that are constantly re-integrated to DNA and recycled by this enzyme

Front 55

What happens if the purines are not recycled?

Back 55

excess production of uric acid

Front 56

What are clinical findings of Lesch-Nyhan?

Back 56

very high uric acid serum levels, gout, self-mutilation (eating fingers), retardation, choreoathetosis

Front 57

Describe supersaturation of HGPRT and when would this happen?

Back 57

When you breaking too many cells and releasing purines, happens w excessive drinking, protein bars, chemo/radiation therapy, tumor lysis, & organ meat

Front 58

What is commonly found after excessive drinking pain in ?

Back 58

toes= gout

Front 59

Any injury to skeletal m. cardiac or brain

Back 59

increases creatinine kinase

Front 60

Duchenne muscular dystrophy linked with

Back 60

lack of dystrophin- protein for muscle tone and function

Front 61

Without muscle tone you get

Back 61

muscle atrophy, increase in creatinine kinase, and eventually wheelchair and death

Front 62

What is becker muscular dystrophy

Back 62

some loss of dystrophin, go on longer without wheelchair bound- can last longer

Front 63

what do you see in bruton's agammaglobuinemia

Back 63

no antibodies in blood, low mature B cells..don't mature enough to make antibodies!

Front 64

bruton agammaglobulinemia likely to hav

Back 64

recurrent bacterial infections

Front 65

What is wiskott-aldrich syndrome

Back 65

Lack of making igM (first antibody made when encounter a microbe--> igG)

Front 66

Most common recurrent infection

Back 66

otitis media

Front 67

Eczema is?

Back 67

type I hypersensitivity, inability to have normal igM is one part of the story, also have some anomaly with type I hypersensitivite= overactivity

Front 68

Thrombocytopenia?

Back 68

lower # platelets..not that their bleeding a lot, but it is low! Small platelets all the time (MPV..mean platelet volume)

Front 69

Lack of NADPH oxidase?

Back 69

chronic granulomatous disease

Front 70

Why does a granuloma form?

Back 70

Neutrophil can't get rid without ROS, so macrophages keep coming and bring T-cells eventually form a granuloma

Front 71

B27 HLA: triad

Back 71

sacroilitis, bamboo spine, uveitis (iris)

Front 72

Reactive arthritis in HLA B27

Back 72

Cant see, cant pee, cant climb a tree

Front 73

The conjunctivitis, urethritis and arthritis is caused by

Back 73

immune system

Front 74

Someone w HLA B27 with chlymdia trichomatos can develop?

Back 74

reactive arthiritis

Front 75

Urethritis is due to?

Back 75

chylmadia triggers in appropriate response so inflammation occurs in conjunctiva, urethra, and joints...treat chylmdia urethritis still htere

Front 76

HLA b27 w bacterial gastroenteritis severe by shigella/ecoli etc.

Back 76

high risk to develop urethritis as well, not bc shigella- just like chlymdia trigger immune system to bring it about

Front 77

Psoriatic arthritis

Back 77

psoriasis, rheumatoid arthritis like symptoms- no rheumatoid factor- can be a serum marker

Front 78

Rheumatoid arthritis

Back 78

autoimmune effects on the joints, ultimately cartilage on bone of joint eaten away by MAC...acutely inflammed but feels hot to touch and to patient as well- feels inflammed, burning sensation

Front 79

HLA Dr2 disease at risk?

Back 79

narcolepsy, multiple sclerosis, type I diabetes

Front 80

Triad of narcolepsy

Back 80

sleep attacks, cataplexy, sleep paralysis- suddenly fall asleep and go right into REM- usually w stress- Dreams

Front 81

what is cataplexy

Back 81

loss of voluntary muscle control, brought in pt by significant emotionally upsetting event

Front 82

Sleep paralysis

Back 82

fall asleep, but lose voluntary muscle skeletal control- bc the skeletal muscle paralysis in 3-4, can intiate premature in an early stage for them...wide awake but wont be able to move at all!

Front 83

Multiple sclerosis (DR2)

Back 83

nystagmus, scanning speech, intention tremor

nystagmus- involuntary moving of eye
scanning speech- goes through bad times and remits, bad again etc. loss of good muscle control of speech

Front 84

Scanning speech

Back 84

not physical able to say but will keep scanning for the right word

Front 85

intention tremor

Back 85

intend to do something see a tremor, but when stop doing something the tremor goes away

Front 86

Parkinson's tremor

Back 86

limb at rest has tremor, when pick up something goes away
diff from MS!

Front 87

Type I diabetes (DR2)

Back 87

recurrent or hyperglycemia, DKA, retinopathy, nephropathy

Front 88

DR3, SLE, give the insulin to me!

Back 88

remember that + diarrhea!

Front 89

SLE

Back 89

triad: malar rash, nephropathy, arthritis

malar rash wrap around to center..kidney problem in arthritis

Front 90

DR3 also incr risk what eating problem

Back 90

celiac disease

Front 91

gliadin and gluten found in

Back 91

whaeat, rye, barley , oat

MAC destroys the villi with these auto-antibodies...be-headed wont absorb nutrients very well

Front 92

Where does the fat go w malabsorption

Back 92

goes out w the stool- steatorrhea

Front 93

DR4

Back 93

rheumatoid arthritis, juvenile rheumatoid

Front 94

Juvenile starts when

Back 94

<16 yrs old, Ra-like arthritis burning but no rheumatoid factor
usually will self-resolve prob not life-long disease

Front 95

Rheumatoid arthritis

Back 95

4!!!! criteria/7 to make diagnosis and assoc w Dr4! and Dw14!