cases Flashcards
What symptoms had when the boy with cystic fibrosis was admitted in the hospital
Chronic cough and diarrhea, wheeze
Runny nose
Salty skin
Pathophysiology of CF
characterized by defective
epithelial ion transport.
• abnormal transport of chloride and sodium across the
epithelium in all exocrine tissues, leading to thick viscous
secretions in the lungs, pancreas, liver, intestine, and
reproductive tract and to an increased salt content in
sweat gland secretions.
What are the genetic causes of CF
The faulty CF gene is located on chromosome 7 • Malfunction of the gene coding for the CF transmembrane conductance regulator (CFTR).
Molecular causes of CF
a defective cAMP-activated chloride and
sodium channel that is present on the surface of many types of
epithelial cells. (bile ducts, pancreas, sweat ducts, and vas
deferens)
• NaCl becomes trapped in the cell-pulls water in, dehydrated mucus
• Production of thick viscous and difficult-to-clear secretions.
• CFTR-mediated regulation of sodium channel activity may fail,
leading to increased sodium absorption from the airways
• Patients with CF have multisystemic disease involving several organs. Lungs are the most affected
CF is ___ gene
recessive
What triplet is missing in CFTR gene
TTT- coding for phenylalanine
The name of the mutation if phenyalanine is missing at position 508
F508
Genetic indicates there are actually more than ___ mutation associated with CF
1100
What is the result of defective gene transcribed?
ubuquination-> proteosome (70-80% if patients lack receptor)
No channel or a faulty channels that does not allow NaCl out of the cell-> very thick mucus that block air passages and gland ducts and water remains in the cell due to hypertonicity
Why sweat is salty in people with CF and its consequence
As sweat rises, cell lining duct reabsorb Na and Cl, but if there is not transporter-> no reabsorption-> sweat 5 times saltier->inbalance of ions->abnormal heart rhthyms
Accepted treatments for children and adults with CF
- Airway clearance therapy
- Antibiotics
- Bronchial dilators
- Vitamin Supplements
- Enzymes to aid digestion
What happened to problem eric (syndroms)
Loss of coordination Abnormal growth (practically 2 meters) -Loss of interest to girls
What check up at doctor showed with Eric
Thyroid levels low
Cotrisone low
Testosterone low
GH high
What hormonal problem could be causing these symptoms? A.Thyroid gland isn’t working. B.Pituitary gland has problems. C.Testes didn’t mature. D.Adrenal glands are cancerous.
B
A. The anterior pituitary probably collects hormones made by the hypothalamus, and the posterior pituitary probably makes hormones under the direction of the hypothalamus.
B. The posterior pituitary probably collects hormones made by the hypothalamus, and the anterior pituitary probably makes hormones under the direction of the hypothalamus.
Which one is true
B
What was the treatment for Eric
Killed the tumor and pituitary with radiation
Gave replacements for hormones of pituitary and GH suppressors for a year
is Eric probably sterile?
Yes
What treatment to reverse Eric’s sterility could Dr. Kidd try? A. Growth Hormone B. Luteinizing Hormone C. Thyroid-Stimulating Hormone D. Prolactin
B
Why FSH and LH hormones should help Eric with infertility
Because luteinizing hormone and follicle-stimulating hormones are hormones released by the pituitary that trigger a variety of events in the testes, including production of testosterone and production of sperm. Testosterone is made by the testes, and does not control the testes’ production of sperm.
What hormone was injected in Eric in order to help him with infertility
Chorionic gonadotropin
Was is acromegaly
Acromegaly is marked by differential growth: bones that have already fused do not grow, but other parts of the body can grow.
Typically acromegaly is most pronounced in areas such as the hands, the feet, and the jaw. Thus, Eric’s lower jaw grew, but his upper jaw did not, causing a misalignment.
Usually happens in adolescence, comparing to gigantism in childhood
Why eric peed a lot ?
diabetes insipidus
His kidneys are so active at night because…
A.He drinks too much because he is unhappy.
B.He doesn’t make enough cortisone, which is a stress response manager.
C.He doesn’t make enough antidiuretic hormone.
D.His blood sugar levels are too high.
C
What ouvert signs did Annie the swimmer have
Fatigue,shortness of breath, decline in performance, low exercise tolerance, tired fingers, eye strain, double vision
Why is Annie having problems breathing and what are possible reasons for Annie’s condition?
The (skeletal) muscles involved with breathing are weak due to poor nerve-muscle communication
extrinsic eye muscles control ___ , and intrinsic ___
Movements of the eye
Iris-“ the size of the puple , and shaping of the lens
What Annie’s tests reviled
The conduction test and EMF test ( nerve and muscle function tests) everything was fine, but because of constant stimulation of muscles, they ran out of ATP
What can happen to the postsynaptic neuron after release of acetylcholine to the synaptic cleft
Channels open and the muscle membrane depolarizes and there is a initiation of action potential in muscles OR the neurotransmitter is broken down by acetylcholine esterase in the celft which leads to uptake of choline into the presynaptic cell
How sustained neural activity could create a dysfunction and result in a decrease in muscle response during repetitive nerve stimulation
- Na and Ca channels stay closed during repetitive nerve activity
- Less Ca enters presynaptic terminal during the activity
- The number of vesicles declines during repetitive nerve activity and they are not replenished
- Vesicles are smaller, and have less acetylcholine
- Fewer receptors on the muscle membrane to react with acetylcholine
What finally neuroscientists realized to be wrong with Annie
Thymus was producing antibodies that attacked acetylcholine receptors in muscles and thus disrupting acetylcholine uptake by muscles
Thymus is not active in ___
Adults
Finally Annie had a disease ___, and she was prescribed ___
myasthenia gravis
Neostigmine , like edrophonium chloride injection
