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Mam Physiology > cases > Flashcards

cases Flashcards

1
Q

What symptoms had when the boy with cystic fibrosis was admitted in the hospital

A

Chronic cough and diarrhea, wheeze
Runny nose
Salty skin

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2
Q

Pathophysiology of CF

A

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.

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3
Q

What are the genetic causes of CF

A 
The faulty CF gene is located on chromosome 7
• Malfunction of the gene coding for the CF transmembrane
conductance regulator (CFTR).
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4
Q

Molecular causes of CF

A

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

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5
Q

CF is ___ gene

A

recessive

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6
Q

What triplet is missing in CFTR gene

A

TTT- coding for phenylalanine

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7
Q

The name of the mutation if phenyalanine is missing at position 508

A

F508

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8
Q

Genetic indicates there are actually more than ___ mutation associated with CF

A

1100

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9
Q

What is the result of defective gene transcribed?

A

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

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10
Q

Why sweat is salty in people with CF and its consequence

A

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

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11
Q

Accepted treatments for children and adults with CF

A
  • Airway clearance therapy
  • Antibiotics
  • Bronchial dilators
  • Vitamin Supplements
  • Enzymes to aid digestion
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12
Q

What happened to problem eric (syndroms)

A 
Loss of coordination
Abnormal growth (practically 2 meters)
-Loss of interest to girls
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13
Q

What check up at doctor showed with Eric

A

Thyroid levels low
Cotrisone low
Testosterone low
GH high

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14
Q 
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.
A

B

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15
Q

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

A

B

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16
Q

What was the treatment for Eric

A

Killed the tumor and pituitary with radiation

Gave replacements for hormones of pituitary and GH suppressors for a year

17
Q

is Eric probably sterile?

A

Yes

18
Q 
What treatment to reverse Eric’s sterility could Dr. Kidd try? 
A. Growth Hormone
B. Luteinizing Hormone
C. Thyroid-Stimulating Hormone
D. Prolactin
A

B

19
Q

Why FSH and LH hormones should help Eric with infertility

A

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.

20
Q

What hormone was injected in Eric in order to help him with infertility

A

Chorionic gonadotropin

21
Q

Was is acromegaly

A

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

22
Q

Why eric peed a lot ?

A

diabetes insipidus

23
Q

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.

A

C

24
Q

What ouvert signs did Annie the swimmer have

A

Fatigue,shortness of breath, decline in performance, low exercise tolerance, tired fingers, eye strain, double vision

25
Q

Why is Annie having problems breathing and what are possible reasons for Annie’s condition?

A

The (skeletal) muscles involved with breathing are weak due to poor nerve-muscle communication

26
Q

extrinsic eye muscles control ___ , and intrinsic ___

A

Movements of the eye

Iris-“ the size of the puple , and shaping of the lens

27
Q

What Annie’s tests reviled

A

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

28
Q

What can happen to the postsynaptic neuron after release of acetylcholine to the synaptic cleft

A

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

29
Q

How sustained neural activity could create a dysfunction and result in a decrease in muscle response during repetitive nerve stimulation

A
  • 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
30
Q

What finally neuroscientists realized to be wrong with Annie

A

Thymus was producing antibodies that attacked acetylcholine receptors in muscles and thus disrupting acetylcholine uptake by muscles

31
Q

Thymus is not active in ___

A

Adults

32
Q

Finally Annie had a disease ___, and she was prescribed ___

A

myasthenia gravis

Neostigmine , like edrophonium chloride injection

Mam Physiology (16 decks)

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