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.
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
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.
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.
1.
,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 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.
1.
, 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.
Stenosis (or narrowing of the valve). When the valve(s) opening becomes narrowed, it limits the
flow of blood out of the ventricles or atria. The heart is forced to pump blood with increased
force to move blood through the narrowed or stiff (stenotic) valve(s).
Cardiac Valve Complications
Heart valve disease can cause many complications,
including: * Heart failure.
* Stroke.
* Blood clots.
* Heart rhythm abnormalities.
* Death.
Respiratory Illness from bats
Vasoconstriction Artery response during blood loss. Does cell shrink or swell ?
Aortic stenosis/regurgitation & Mitral stenosis/regurgitation
Mitral valve stenosis occurs when the mitral valve in the heart narrows, restricting blood flow
into the main pumping chamber. The mitral valve may also leak, causing blood to flow back
through the valve each time the left ventricle contracts. This condition is called mitral
valve regurgitation.
Backflow of blood is caused by failure of the heart's mitral valve to close tightly.
Mitral valve regurgitation is a condition in which the heart's mitral valve does not close
tightly, which allows blood to flow backward in the heart.
Heart vegetations
Abnormal growths (vegetations) that contain collections of bacteria may form in the heart at the
1.
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.
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
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.
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.
1.
,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 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.
1.
, 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.
Stenosis (or narrowing of the valve). When the valve(s) opening becomes narrowed, it limits the
flow of blood out of the ventricles or atria. The heart is forced to pump blood with increased
force to move blood through the narrowed or stiff (stenotic) valve(s).
Cardiac Valve Complications
Heart valve disease can cause many complications,
including: * Heart failure.
* Stroke.
* Blood clots.
* Heart rhythm abnormalities.
* Death.
Respiratory Illness from bats
Vasoconstriction Artery response during blood loss. Does cell shrink or swell ?
Aortic stenosis/regurgitation & Mitral stenosis/regurgitation
Mitral valve stenosis occurs when the mitral valve in the heart narrows, restricting blood flow
into the main pumping chamber. The mitral valve may also leak, causing blood to flow back
through the valve each time the left ventricle contracts. This condition is called mitral
valve regurgitation.
Backflow of blood is caused by failure of the heart's mitral valve to close tightly.
Mitral valve regurgitation is a condition in which the heart's mitral valve does not close
tightly, which allows blood to flow backward in the heart.
Heart vegetations
Abnormal growths (vegetations) that contain collections of bacteria may form in the heart at the
1.
