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Pathophysiology (HCM 2507) Quizlet for Patho Test - Lots of good information A+
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lPathophysiology (HCM 2507) Quizlet for Patho Test - Lots of good information
Turner syndrome
A chromosomal disorder in females in which either an X chromosome is missing, making the person XO
instead of XX, or part of one X chromosome is deleted.
Tay-Sachs Disease
A human genetic disease caused by a recessive allele for a dysfunctional enzyme leads to the accumulation of
certain lipids in the brain.
Seizures, blindness, and degeneration of motor and mental performance usually become manifest a few
months after birth, followed by death within a few years.
Down syndrome
A condition of mild to severe intellectual disability and associated physical disorders caused by an extra copy
of chromosome 21
Marfan Syndrome - Autosomal dominant trait -This condition is inherited in an autosomal dominant pattern ,
which means one copy of the altered gene in each cell is sufficient to cause the disorder.
At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene
Marfan's Syndromes genetic trait type
Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal copy of the
Marfan gene inherited from one parent is sufficient to have the condition. Defects or deletions (pathogenic
variants) of the fibrillin-1 (FBN1) gene have been shown to cause Marfan syndrome.
Spina Bifida
Not having enough folic acid during pregnancy is one of the most important factors that can increase the
chances of having a child with spina bifida.
Turner Syndrome - characteristics
Patients with suspected Turner syndrome require genetic testing and hormone level evaluation.
Echocardiogram, bone density, and bone age testing are necessary. Treatment involves estrogen therapy and
growth hormone administration. The patient should be treated symptomatically for all other effects of the
disease.
#Underdeveloped ovaries (sterile)
#Short stature (~ 4'7")
#Webbing of the neck
#Edema
#Underdeveloped breasts; wide nipples
#High number of aborted fetuses
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,Cushing's syndrome =moonfaced
Viral hemorrhagic fevers are spread by contact with infected animals or insects. The viruses that cause viral
hemorrhagic fevers live in a variety of animal and insect hosts.
Most commonly, the hosts include mosquitoes, ticks, rodents, or bats. Some viral hemorrhagic fevers can also
be spread from person to person.
MRSA
Methicillin-resistant Staphylococcus aureus (MRSA) infection is caused by a type of staph bacteria that's
become resistant to many of the antibiotics used to treat ordinary staph infections.
Anemia
Different types of anemia include:
Anemia due to vitamin B12 deficiency
Anemia due to folate (folic acid) deficiency
Anemia due to iron deficiency
Anemia of chronic disease
Hemolytic anemia
Idiopathic aplastic anemia
Megaloblastic anemia
Pernicious anemia
Sickle cell anemia
Thalassemia
Sprains and Strains -A sprain occurs when you overextend or tear a ligament while severely stressing a joint.
A strain occurs when tendons (bands at the end of muscles that connect muscles to bones) get stretched or
pulled away from the bone.
Sprain
A sprain is an overstretching of a ligament with a possible tear. A sprain occurs in response to a quick twist or
pull of the muscle. It can be caused by a force that displaces a joint from its normal alignment.
Sprains most commonly occur around joints. The most common location for a sprain is in the ankle.
Strain
A strain is an overstretching of tendons and muscle. Strains often occur in the lower back and in the hamstring
muscle and result from overuse of muscles, improper use of the muscles, or as the result of injury in another
part of the body when the body compensates for pain by altering the way it moves.
Pain, weakness, limited range of motion, and muscle spasms are common symptoms experienced after a
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, strain occurs.
Bursitis
Bursa are fluid-filled, saclike structures between skin and bone or between tendons, ligaments, and bone. They
act as cushions to lubricate and decrease friction between bone, ligaments, and tendons. Bursitis occurs when
the synovial lining produces excessive fluid, leading to localized swelling and pain.
Bursitis can also be caused by autoimmune disorders, gout or pseudogout, infection, traumatic events, and
hemorrhagic disorders. Systemic diseases such as rheumatoid arthritis, ankylosing spondylitis, psoriatic
arthritis, scleroderma, systemic lupus erythematosus, pancreatitis, Whipple disease, oxalosis, uremia,
hypertrophic pulmonary osteoarthropathy, and idiopathic hypereosinophilic syndrome have also been
associated with bursitis.
Bursitis -Inflammation of a bursa sac. Inflammation of the fluid-filled pads (bursae) that act as cushions at the
joints.
Fractures
Osteoporosis results in a loss of bone mass. A change in bone mineralization is characteristic of osteomalacia
and rickets rather than osteoporosis.
The decrease in bone density makes bones more fragile and susceptible to fracture.
Ida's osteoclasts are breaking down more bone than osteoblasts are rebuilding.
This results in bone loss
.
Lymphedema
This is the swelling or accumulation of the fluid due to a blockage in the lymphatic system caused by scar
tissues from damaged lymph vessels or lymph nodes.
It is often seen in patients who had their lymph nodes removed and had surgery or radiation to remove cancer.
Lymphadenitis
Lymphadenitis is the medical term for enlargement in one or more lymph nodes, usually due to infection.
Lymph nodes are filled with white blood cells that help the body fight infections.
Lymphadenopathy
Enlarged lymph nodes that become palpable and tender.
Cardiac Valve Disease Process
In heart valve disease, one or more of the valves in your heart doesn't work properly. Regurgitation (or leakage
of the valve). When the valve(s) do not close completely, it causes blood to flow backward through the valve.
This reduces forward blood flow and can lead to volume overload in the heart.
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