Clinical Correlates Flashcards
Blue lips, cyanosis
Hypoxia
Low hemoglobin concentration
Anemia
Throbbing headache, confusion, cherry red lips
CO poisoning
Chocolate colored blood
Methemoglobinemia, treated with methylene blue
Mutation in hemoglobin beta, chest pain
Sickle cell. Hydroxyurea to treat
Ethylene glycol poisoning
Generates bad metabolites, treated with ethanol
Sulfa drug function
Inhibits bacterial enzyme it needs. Penicillin, Prilosec, etc
LDH1 in blood
Heart damage
Fragmentation of nuclei
Karyorrhexis
Condensation of chromatin and nuclei
Pyknosis
No nuclei
Karolysis
Over expression telomerase
Cancers
Deletion of part of chromosome 15
Prader Willi Angelman
Mutations in lamins A and C
Emery dreifuss muscular dystrophy
Point mutation in lamin A, early aging
Progeria
Mutations in nuclear pores
Leukemia’s and liver issues
Abnormal proliferation
Neoplasia
Find cell cycle position
Flow cytometry
Trisomy 21
Down’s syndrome
Trisomy 18
Edwards syndrome
Trisomy 13
Patau syndrome
High levels of cyclin D and E
Poor cancer prognosis
Drugs that affect bacterial gyrases
Ciprofloxacin, nalidixic acid
Prone to skin cancer, live indoors, dna repair issue
Xeroderma pigmentosum
Aberrant cholesterol metabolism in brain
Alzheimer’s, bad lipid rafts
How do viruses get into cells?
Lipid rafts
Overexpression flotillins
Alzheimers, cancer etc
Deceased electron transport proteins, muscle weakness, epilepsy. Issues with tRNA
MERRF
Blindness as young adult, electron transport chain issues
LHON
Fine until mid childhood, then severe neuro defects. Problems with fatty acid oxidation
X linked ADL
Empty peroxisomes, defects in brain liver and kidneys
Zellweger
RAS and SRC can be what?
Oncogenic
Immobility of axoneme, respiratory issues, male infertility.
Primary ciliary diskinesia
vincristine and vinblastine depolymerize what?
Mitotic MTs
TAU protein proliferation
Alzheimer’s
Actin binding protein dystrophin is defective. Severe has upstream frame shift
Duchenne/Becker muscular dystrophy
Troponin I and T found when?
Myocardial infarction
IF filaments can determine what?
Cancer cell of origin.
Mutant cytokeratin produces skin that doesn’t hold together
Epidermolysis bullosa
Modification by SES can cause what to toxins
Make them more carcinogenic
Chloride transporter issues, kept in ER
Cystic fibrosis
Bad processing of lysosomal hydrolase
L cell disease
LDL receptor mutation
Atherosclerosis
Defect in L iduronidase. Skeletal deformities and cardiac issues
Hurlers syndrome
Defect in hexosaminidase A. Nervous system issues
Tay Sachs
Mutations in turnover of membrane components
Niemann Pick and Gauchers
Empty lysosomes, lack of M6P tagging
I cell disease
Faulty ubiquinitation
Neuro disorders
C perfringins toxin
Messes with claudins and degrades z occludens
H pylori
Binds JAM and ZO, messing with occludens. Ulcers.
Autoimmune disease where desmosomes are attacked
Pemphigus vulgaris
Connexin protein defects
Deafness, nerves, cataracts?
Antibodies made for BP230
Bullous pemphygoid