Diseases Flashcards
1
Q
Li-Fraumeni Syndrome
A
- mutated p53 –> cells with damaged DNA are not put through apoptosis –> cancer
- spontaneously mutated p53 is also found in most cancers
2
Q
Kartagener Syndrome
A
- primary ciliary dyskinesia
- problem with dynein
3
Q
Pseudomona Infection
A
- bacterial infection
- neutrophils predominant for several days
4
Q
Libman-Sachs Endocarditis
A
- nonbacterial endocarditis
- seen in pt.s with SLE
5
Q
Disseminated Intravascular Coagulation
A
- systemic activation of thrombin
- multiple thrombi throughout the body
- often affects: kidneys, brain, lungs, heart
- can evolve into a hemorrhagic stroke or hypovolemic shock
6
Q
Decompression sickness
A
- the bends
- N2 exits circulation too quickly, and makes emboli
- causes edema, hemorrhage, and face atelectasis or emphysema in the lungs (the chokes)
7
Q
Caisson Disease
A
- chronic form of decompression sickness
- found in people that worked on pressurized vehicles on bridges
- ischemic necrosis that often affects the femoral head, tibia, and humeri
8
Q
Amniotic Fluid Embolism
A
- amniotic fluid enters mom’s circulation
- immediate dyspnea, cyanosis, and shock (followed by neuro sx)
9
Q
Neisseria infections
A
- thin cell walled bacteria
- if you have a deficiency in MAC, you can’t kill them
10
Q
Hereditary Angioedema
A
- deficiency of C1
11
Q
Paroxysmal Nocturnal Hemoglobinuria
A
- enzyme that makes GIP anchors deficiency
- over expression of complement system + lysis of RBCs
12
Q
Von Gierke Disease
A
- deficiency of glucose 6 phosphatase, liver phosphorylase, or debranching enzyme
- accumulation of glycogen in the liver
13
Q
McArdle Disease
A
- defect in muscle phosphorylase or phosphofructokinase
- unable to use glycogen in the muscles; lack of energy
14
Q
Pompe Disease
A
- deficiency of alpha-glucosidase
- lysosomal storage of glycogen –> cardiomegaly
15
Q
Werner Syndrome
A
- mutated DNA Helicase
- premature aging
