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