Exam 1 Revised Flashcards
Demyelination of neurons in PNS/ Schwann cell defect causes this pathology:
Guillian-Barre
Demyelination of the neurons in the CNS/ Oligodendrocyte defect causes this pathology:
Multiple Sclerosis
Which autoimmune disease causes muscle weakness by antibodies damaging nAChr (nicotinic ACh receptors)?
Myasthenia Gravis
-tx: Neostigmine + Prednisone + possibly plasmapheresis
Which autoimmune disease causes muscle weakness by antibodies attacking voltage gated Ca++ channels on the presynaptic motor nerve terminal?
LEMS
-tx: Neostigmine + chemo/radiation if necessary
A defect with lysosomes can cause this disease:
Tay-Sach’s Disease
Which autosomal recessive disorder involves Cl- ion channel disorder as a result of protein deficiency?
Cystic Fibrosis
True or false: telomerase activity is lower than average in cancerous cells?
false, it is abnormally high
True or false: Hypomethylation of tumor suppressor genes make cancer more likely:
false, HYPERMETHYLATION bc it silences the tumor protective genes
True or false: Hypermethylation of oncogenes can make cancer more likely:
false: HYPOMETHYLATION bc the cancerous gene is less silenced
Which inherited disease is characterized by defective/ leaky ryanodine receptors?
Malignant Hyperthemia
A deceased body will stay contracted due to lack of ATP to release myosin heads from actin on muscle cells after death occurs. This is called:
Rigor Mortis
This condition of the muscle is caused from immobility, poor blood supply, poor nutrition, and less workload:
Atrophy
This condition of the muscle is caused by chronic hemodynamic overload, causing an increase in muscle cell size, increasing size of the organ:
Hypertrophy
This condition of the muscle is caused as a response to injury and increases number of cells:
Ex) good situation- hepatocytes increase after part of liver removed
Ex) bad situation - BPH
Hyperplasia
This condition of the muscle is caused by damage, repair, and regeneration with modifications:
ex) esophageal cells changing after damage from acid reflux to accommodate the environment
Metaplasia
This condition of the muscle is characterized by an abnormal change in shape/ organization of mature cells
ex) achondroplasia in dwarfism
Dysplasia
This condition is caused by autosomal aneuploidy involving trisomy of the 21st chromosome
Down Syndrome/ Trisomy 21
This condition is caused by sex chromosome aneuploidy where the subject has 1 X chromosome:
Turner’s Syndrome
This condition is caused by sex chromosome aneuploidy where the subject has several sex chromosomes (XXY, XXYY, XXXYY)
Klinefelter
Huntington’s Disease and Marfan Syndrome are examples of autosomal dominant conditions. If a mother was heterozygous for this condition and a father was also heterozygous for this condition, what likelihood does their child have of being spared from this condition?
25% chance of not having this condition
Cystic Fibrosis is an autosomal recessive condition characterized by defective Cl- ion channels. If a father expressed this condition and a mother was a carrier, what likelihood does their child have of also expressing this condition?
50% will express this condition
Duchenne’s Muscular Dystrophy is the most common X-linked recessive neuromuscular disease. If a mother possessed 2 of these recessive genes and had a son, what chance does he have of expressing it?
100% because he receives his X chromosome from her.
Name a few conditions that can be caused by increased free radicals in the body:
-Alzheimer’s
-Diabetes Mellitus
-Rheumatoid Arthritis
The insulin gene is impaired in this condition, leading to decreased insulin production:
T1DM