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40 Cards in this Set
- Front
- Back
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Gout
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Uric acid percipitates out of solution to form Ca(2+)-Urate. This is an example of a disorder caused by the desolvation of a charged particle.
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Phenylketonuria
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(PKU) Dificiency in the enzyme phenylalanine hydroxylase leads to accumulation of Phe in blood and Tyr dificiency.
-if you can't make Tyr then you are going to have trouble making Tyr derivatives -> TH, DOPA, catecholamines, and melanin. -no TH (thyroid hormone) leads to nuerological disorders |
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Scurvey
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Disorder caused by a lack of Vitamin C that results in the breakdown of bones. Vitamin C is a coenzyme of proline hydroxylase that adds a -OH to proline to allow collagen to cross-link.
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Necrosis of Liver-> in relation to the nitrogen cycle
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Results in hyperammonuria because urea is prodced in the liver and if urea connot be produced blood ammonia levels increase.
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Hyperlipidemia Type 1
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Disease caused by the lack of the enzyme required to take up fat from the chylomicron particle in the blood. (I believe the enzyme is lipoprotien lipase -> which is also released from capillary wals upon stimulus of Heparin) Patients develope a rash of bumps on the skin where the fat is deposited, deposits of fat also occure elsewhere in the body.
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Ketoacidosis in Type 1 Diabetes Mellitus
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Due to the lack of insulin (absent Beta cells) in the Type 1 patient the synthesis of fat from glucose is turned off and the breakdown of fat into FFA and Glycerol is turned on. This causes for FFA to be converted into Ketone Blodies in the liver resulting in ketoacidosis.
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Kwashiorkor
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Symptoms: Edema, Swollen feet, Protruding belly, Loss of hair, Liver damage
Cause: Insufficient protien in diet, while maintaining adequate energy intake. |
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Marasmus
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Symptoms: No Edema, Muscle wasting, liver damage
Cause: Insufficient protein, and insufficient energy intake. |
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When do you check blood glucose levels (suspecting type 1 diabetes mellitus)?
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Symptoms:
-Frequent urination -Excessive thirst -Increased appetite with increased food intake, but rapid weight loss occuring. -Fatigue -Nausea -Vomiting |
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When do you check blood glucose levels (when suspecting type 2 diabetes mellitus)?
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Symptoms:
-Increased thrist -Increased urination -Increased appetite -Fatigue (attributed to a chemical cause, from hyperglycemia) -Impotence in men (caused by neuropathy from AGEs) -Slow healing infections (chronic staph infections common) -Blurred vision |
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fructose intolerance
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Patients have a genetically defective enzyme that breaks down fructose. This results in high concentrations of fructose in blood, as well as the presence of fructose in the urine. Fructose is a reducing sugar and will react in a reducing sugar test.
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Galactosemia
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Patients have a genetically defective enzyme that breaks down galactose. Galactose is present in the blood at high concentrations and is also present in urine. This disease is easily detected in infants because it causes for cataracts to form.
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Galactosemia
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Patients have a genetically defective enzyme that breaks down galactose. Galactose is present in the blood at high concentrations and is also present in urine. This disease is easily detected in infants because it causes for cataracts to form.
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Respiratory Distress Syndrome (RDS)
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Premature babies lack the ability to secrete lung surfactant (major component = dipalmitoyl phosphatidyl choline). The premature baby is unable to inflate its lungs due to the overwhelming surface tension present in the moist lung environment. Lung surfactant from a cow is squirted into the babies lungs and it is able to take it's first breath.
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Poisonous Snakebite (in relation to arachidonic acid cascade)
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Snake venoms contain phospholipase. This causes the creation of lysophosphatides (what is also made when phosphlipase A2 cleaves phospahtidyl (choline) to release arachidonate). Lysophosphatides are strong detergents that in high enough concentrations can cause mass membraine disruption. Hemolysis can occure and in bad snake bites hemoglobin will end up in urine because of the mass hemolysis. This is why if you get bit by a sea snake while scuba diving you should pee. If your pee is black you will be dead before you get back to land. If your pee isn't it was potentially a dry bite and you should live.
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High Cholesterol -> in relation to delivery of oxygen to tissue
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A patient with high cholesterol (hypercholesterolemia) will not deliver oxygen to their tissues as efficiently as a healthy patient. This is because cholesterol increases membraine rigidity, therefore having high blood cholesterol will cause for ones red blood cells to have a high membraine cholesterol percentage and have ridgid membraines. The ridgid membraines causes the RBC to not be able to traverse the small capilaries as easily as a normal RBC. Thus delivering less oxygen to target tissues during excercise.
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Tay-Sachs
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An example of a gangliosidoses (a type of lysosomal storage disease) in which the ganglioside GM2 accumulates. This occures because of defective Hexosaminidase A (alpha-hexosaminidase) so GM2 does not remove a sugar residue that is needed for further catabolism. The build-up of GM2 especially occures in the nervous tissue.
Symptoms: mental retardation at 6 months, cherry red spots on retina, exaggerated startle responce to noise, seizures, and death at age 3 or 4. |
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Lipid transport defects
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Disorders involving lipid transport that result in hyperlipidemias. Hypercholesterolemia, hypertriglyceridemia, etc.
Stillway example: If there is a problem with VLDL transport out of liver there will be fatty liver. Endocytosis example: If there is a problem with the endocytosis of LDL then cells will continue to make more cholesterol -> hypercholesterolemia (refer to endocytosis for more info.) |
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Essential Fatty Acid Deficiency (EFAD)
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Dietary lack of linoleic acid (linolenic acid is also essential but most deficiencies occure with linoleic).
Symptoms: -Lack of inflamatory response due to the lack of arachidonic acid and the arachidonic acid cascade -Impaired wound healing -Decline in health |
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Emphysema
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A disease characterized by the loss of surface area in the lung. By reducing the surface area of the lung it decreases the net flux of oxygen, thus not allowing as much oxygen to enter the blood.
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Pulmonary Fibrosis (scar tissue in lung)
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If someone has a lot of scar tissue in their lungs then that causes for the distance that oxygen has to diffuse to be greater. Greater diffusion distance results in a decreased flux of oxygen and less oxygen is absorbed into the blood.
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Hypoxic environment and oxygen concentration (hiking to the summit of a mountain)
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When one is in a hypoxic environment the concentration gradient between capillary oxygen levels and external environment is lower than in standard conditions. This decrease in change in concentration results in a decreased flux and less oxygen is absorbed into the blood.
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Hypoxic environment and oxygen concentration (hiking to the summit of a mountain)
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When one is in a hypoxic environment the concentration gradient between capillary oxygen levels and external environment is lower than in standard conditions. This decrease in change in concentration results in a decreased flux and less oxygen is absorbed into the blood.
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Cystic Fibrosis
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A disease characterized by a defective Cystic Fibrosis Transmembrain Regulative protien (CFTR) ABC (ATP binding cassette) transporter. This defective transporter affects chloride secretion and the regulation of other membrane transporters. Chloride transport out of the cell does not occure this results in thick mucus because water does not dilute the mucus because there is no chloride to follow. Results in the thickening of airway mucus, and other associated problems.
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Digitalis treatment in Congestive Heart Failure
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The heart is extremely good at contolling Calcium concentration. One process for contolling it is with the Sodium/Calcium Antiport (Sodium in-calcium out) that is driven through secondary active transport (Sodium transported out of the cell with Sodium/Potassium ATPase). Digitalis (chemical from a flower) blocks Sodium/Potassium ATPase thus increasing the intracellular concentration of Sodium to a point where Sodium moves out of the cell and Calcium moves into the cell. Essentailly reversing the Sodium/Calcium Antiport to allow for a higher intracellular concentration of Calcium for heart contraction.
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Excess urination with consumption of EtOH
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Ethanol inhibits ADH (anti-diuretic hormone). ADH functions to increase the number of aquaporins in the nephrons to reabsorb water. When ADH is inhibited the number of aquaporins is not increased and excess urine is produced, leading to dehydration.
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Thrist during excercise
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Sweat contains more water than salt the osmolarity of the blood is increased which acts to draw more water out of the cells thus increasing the osmolarity of the intracellular medium. This causes the cell to release a signal to the brain to tell you that you are thristy.
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Irreversible Sickle Cell (ISC)
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A disease caused by the inability of actin filaments to disassemble. Actin and Spectrin bind together to maintain the biconcave shape of erythrocytes. The complex occationally needs to breakdown and reassemble to allow the erythrocyte to change shapes and squeeze through tight capillaries. With ISC the Spectrin-Actin complex doesn't breakdown so the cells get stuck in a certain position and it does not allow the cell to bend freely. This results in misshapened cells that will clog capillaries and produce symptoms associated with sickle cell disorders.
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Epidermolysis Bullosa Simplex
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Characterized by a mutant K14 keratin gene (keratin = intermediate filament involved in desmosome binding (I believe it is also involved in hemi-desmosome binding as well because this disease makes more sense because hemidesmosomes link epithelial layers to the underlying basement membrane)). Without the normal intermediate filaments giving the cell strength at the desmosome juctions the basal cells become weak and easily damaged causing the overlying epidermal layers to delaminate and blister.
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Cancer chemotherapy drug targets -> cytoskeleton
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Many drugs target microtubule function by binding to tubulin, because proper microtubule functioning is essential for spindle formation during cell division. Common for chemotherapy.
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Connective tissue diseases commonly occure due to?
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Abnormalities in the ECM and adhesion can compormise tissue function and cause disease.
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Gene mutations in gap junctions lead to?
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Cardiovascular anomalies and cataracts.
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Gene mutations in gap junctions lead to?
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Cardiovascular anomalies and cataracts.
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Bullous Pemphigoid
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An autoimmune disorder caused by autoantibodies to BP-180 a hemidesmosome component. This disease is marked by blistering.
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Pemphigoid Vulgaris
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An autoimmune disorder where aquired autoantibodies target transmembrane protien desmogleins. Which is a cadherin type CAM of the desmosome. This disorder is marked by sores in the mouth and blistering of the skin. It is an aquired autoimmune disorder prevalent in Ashkenazi Jews.
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Botulism
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A disease caused by bacterial release of Botulinum toxin, a clostridial toxin that acts as a protease to cleave synaptobrevin, syntaxin, and SNAP-25 (the protiens that hold neurotransmitter vesicles in close relation to the presynaptic membrane to be realeased easily). Botulinum toxin is also used clinically to reduce acetylcholine-induced contractions of muscles in the face (this reduces wrinkles).
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Tetanus
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A disease caused by a clostridial toxin that acts as a protease to cleave synaptobrevin, syntaxin, and SNAP-25 (the protiens that hold neurotransmitter vesicles in close relation to the presynaptic membrane to be realeased easily). Tetanus toxin acts to surpress an inhibitory process (i guess this means it blocks the release of GABA) therefore it causes a high increase in excitatory signaling which leads to involuntary spasms...Lockjaw, etc.
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Black Widow Spider Toxin
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Also known as latrotoxin, it binds to presynaptic proteins such as neurexins and causes a calcium-independent release of neurotransmitter. It depends on where the toxin is for the resulting release of neurotransmitters (i believe this toxin does not descriminate between synapses...cultural competency?)
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Lambert-Eaton Myasthenic Syndrome
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An auto-immune disease where antibodies are directed against calcium channels on the presynaptic motor nerve terminal. This causes a problem with the release of acetylcholine. Since Ach is used to transmit signals from neurons to muscles the result is not being able to produce muscle contraction.
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What can mucosal adhesions or abdomino-pelvic cavity infections of the falopian tubes and other female organs cause when that female is trying to become pregnant?
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Ectopic pregnancy, the majority of ectopic pregnancies are tubal but there can also be implantation in the abdomen and ovary
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