Genetic disorders
Patho vocab
Ear
Eye 1
Mix
100

Vision issues and lens displacement are the hallmark sign of this genetic disorder.  

Marfan Syndrome

100
An exacerbation of a disease is

the disease getting worse for a period of time, after a period of less severe symptoms / a period of remission. 

100

What does tinnitus mean? 

Hearing abnormal noises in the ear like ringing, buzzing, blowing, etc. 

100

This condition is due to an increase in intraocular pressure that hurts the optic nerve. There are several types of this disease. 

glaucoma

100

Is stage 4 cancer mostly well differentiated or undifferentiated cells?  

mostly undifferentiated cells -- the cells by this late stage cancer are almost all abnormal. 

200

What is the common term for Trisomy 21? List at least 3 common symptoms of it. 

Down Syndrome. 

S/S: poor muscle tone, cardiac defects, Simian crease on palm, protruding tongue, low-set ears, delayed puberty, cataracts, behavioral/developmental issues, strong relation to Alzheimer’s disease

200

Explain what homeostasis is and why it is important. 

Homeostasis is the process by which the body maintains a stable internal environment despite external changes. It is crucial for survival because it allows the body to function efficiently and protect itself from harmful disruptions.

200

A patient complains of nausea associated with a spinning sensation despite standing still. What would you call this? 

Vertigo

200

Explain what strabismus is in easy to understand terms. 

Being "crossed eyed" / eyes do not coordinate to move and focus together. 
200

What is the purpose of epithelial tissue? 

To act as a barrier 

300

This genetic condition has the chromosome XXY, only affects males, and is treated with hormone therapy if detected. It causes sparse body hair, small genitals, gynecomastia (enlarged breast tissue in men), behavioral issues, etc. What condition is this? 

Klinefelter Syndrome (AKA Polysomy X) 

300

What is neoplastic growth? 

Growth of cancerous cells / abnormal or
uncontrolled cellular growth -- cancer cells

300

List at least 3 symptoms of acute otitis media, or an infection of the middle ear. 

ear pain, crying, irritability, pulling at ear, fever, chills, fatigue, headache, N/V, bulging and red tympanic membrane (might see ear drainage if ruptures)

300

What is conjunctivitis? List at least 2 manifestations of it. 

Infection or inflammation of the conjunctiva - can be viral or bacterial. 

S/S: edema, pain, itching, blurry visoin, photophobia, excess tearing 

300

A patient with tuberculosis has necrosis. What kind of necrosis do you anticipate seeing in this patient? 

caseous necrosis (cottage cheese look)

400

The disorder PKU (Phenylketonuria) is screened in all newborn babies in the US. What is the risk if this is not detected and treated? 

Progressive neurological decline and intellectual disability 

400

Differentiate between morbidity and mortality. 

Morbidity is the disease rate (how frequent this disease is in a population) whereas mortality is the death rate (amount of deaths in a population). 

400

What is otitis externa? What is a common risk factor for it? 

This is an infection of the outer ear / outer canal. This is common after swimming in contaminated water -- educate patients to wear ear plugs when swimming to help prevent.  

400

What kind of vision changes occur with macular degeneration? How is it fixed? 

Loss of central vision -- fast or slow depending on type of degeneration. It is irreversible so no way to fix it. 

400

Give an example of when hypertrophy of cells often occur in human bodies. 

(Answers will vary, here are 2 examples) 

1) A bodybuilder's arm muscles get bigger as he lifts weights more often 

2) The left ventricle of the heart thickens because it has to work harder in a patient with chronicly high BP

500

What is the most common symptom requiring treatment with Fragile X syndrome?  

behavioral issues and psychological support 

500

How does ischemia happen? How does infarction happen? 

Ischemia occurs when blood flow to a cell is cut off leaving the cell starving for O2 / blood. Infarction occurs if ischemia is prolonged and the cell dies from prolonged lack of blood flow and O2. 

500

What is Meniere’s disease? List at least 2 common manifestations. 

Disorder of the inner ear that results from endolymph swelling -- excess fluid and swelling in inner ear. 

S/S: vertigo, tinnitus, unilateral hearing loss, sensation of fullness / pressure in ear,  N/V, headache, uncontrollable eye movement

500

What is the common term for amblyopia? Explain this disorder. 

A lazy eye. One eye does not develop properly becaue the brain ignores it. This leads to one very strong eye and one weak eye requiring treatment like eye patching or medications. 

500

List at least 3 ways people's eyes change as they age. 

Less tear production, eye muscles weaken, Visual acuity declines, can’t see things clearly up close/difficulty focusing (presbyopia), Intolerance to glare, difficulty adapting to darkness, Inability to distinguish color, Cornea becomes less sensitive, pupils decrease in size/react more slowly, Lens becomes yellowed, less flexible, slightly cloudy