Exam 1 Clinical Correlates Flashcards
Respiratory acidosis
Causes increase in CO2, decrease in pH, and increase in [H+]
Long-term: increase in bicarbonate (HCO3-)
Presentation: hypoventilation, COPD or other respiratory obstruction
Respiratory alkalosis
Causes decrease in CO2, increase in pH, and decrease in [H+]
Long-term: decrease in bicarbonate [HCO3-]
Presentation: hyperventilation
Metabolic acidosis
Caused by an increase in acid in the blood (lactate/ketone bodies, diarrhea), decrease in pH, increase in [H+]
Long-term: increase in PCO2
Presentation: chronic diarrhea
Metabolic alkalosis
Caused by a decrease in acid in the blood (vomiting, antacid), increase in pH, decrease in [H+]
Long-term: decrease in PCO2
Presentation: vomiting, antacid
Adenocarcinoma
Forms a gland-like pattern from epithelial cells of the colon, can grow from colon polyp through the wall of surrounding tissues
Presentation: rectal bleeding, blood in stool, abdominal pain, feeling like you need to go number 2 all the time, weakness or fatigue, unexplained weight loss
Alcoholism
Causes a thiamine deficiency, which inhibits pyruvate dehydrogenase, which in turn inhibits the formation of acetyl-CoA.
Thiamine deficiency also causes alpha-ketoglutarate dehydrogenase (succinyl Co-A)
Excessive lactate is produced (metabolic acidosis)
Amyloidosis
Immunoglobulin chains form an insoluble protein aggregate (amyloid) in organs & tissues.
Disease: Alzheimer’s Disease
Causes: renal damage, cardiac damage, rheumatoid arthritis, neurological damage
Prion disease
Misfolding & aggregation of a neurodegenerative protein. Has the same amino acid composition (PrPc) but folds into a different, more degenerative conformation (PrPsc).
PrPsc has significantly more beta-sheets, lowers the activation energy barrier -> causes proteolytic degradation
Diseases: CJD (mad cow), Scrapies in sheep
Presentation: rapid timespan, descent into madness, via ingested or sporadic occurrence
Angelman Syndrome
A: microdeletion of maternal chromosome 15
Using base methylation to regulate gene expression, and methylation of critical bases within the promoter causes the nonexpression of the gene (epigenetic)
Presentation: Developmental disabilities and neurological problems,such as difficulty
speaking, balancing and walking, and, in some
cases, seizures
Prader-Willi Syndrome
PW: microdeletion of paternal chromosome 15
Using base methylation to regulate gene expression, and methylation of critical bases within the promoter causes the nonexpression of the gene (epigenetic)
Presentation: Poor muscle tone,
intellectual impairment, learning disabilities,
narrow forehead, almond-shaped eyes,
triangular mouth, short stature, small hands and
feet, underdeveloped genitals, delayed or
incomplete puberty, infertile
Androgen insensitivity
Lack of androgen receptors leading to default female sexual characteristics
Anorexia nervosa
Body is in a constant starvation state. Ketone bodies
are extremely elevated in blood due to fatty acids
being converted in the liver to produce energy,
kidneys are excreting ketone bodies, blood glucose is
slightly below the normal range.
Decreased body fat restrict the release of gonadotropic hormones.
Poor diet leads to hypochromic anemia -> reduction of serum & tissue ferritin, but increase in transferrin protein & transferrin receptor
Cholera
Caused by Vibrio cholerae
Mechanism: Cholera toxin A subunit indirectly activated the cystic fibrosis transmembrane conductance regulator (CGTR) channel, resulting in secretion of chloride and sodium ion into the intestinal lumen. Ion secretion was followed by loss of water
Presentation: watery diarrhea & vomiting
Treatment: oral rehydration with high glucose & sodium content, intravenous rehydration
Chronic myelogenous leukemia
Single line of myeloid cells in the bone marrow proliferates abnormally, causing large increase in the number of nonlymphoid white blood due to translocation between chromosomes 9 & 22
Known as the Philadelphia chromosome
Presentation: Pain and tenderness in
various areas of the body, possibly stemming
from the expanding mass of the myeloid cells within bone marrow. Hemorrhagic signs such as bruises
(ecchymoses), bleeding gums, and the appearance of small red spots on the skin (petechiae caused by release of red cells)
Cockayne syndrome
Mutations in protein are specifically responsible for
the transcription-coupled repair, which clinically present
as premature aging. Cells with these mutations
cannot transcribe damage-damaged genes. If the
DNA cannot be repaired because of the defect in
transcription-coupled repair, premature cell death
can result from the reduction of gene expression
Presentation: Small head size, failure
to gain weight and grow, short stature, delayed
development. Increased sensitivity to sunlight,
and hearing loss, vision loss, severe tooth decay,
bone abnormalities
Cystic fibrosis
Function of chloride channels in pancreatic secretory ducts are defective; thickening of mucus occurs
Cystinuria
Large amount of cystine in the urine due to inherited
amino acid substitution in the transport protein that
reabsorbs cystine, arginine and lysine. Cystine is less
soluble and may precipitates in the urine to form
renal stones
Presentation: blood in urine, severe flank pain, nausea and vomiting
Diabetes (type 1)
Insufficient insulin due to immune system attacking beta cells
Diabetes (type 2)
Resistant to insulin in cells
Gout
May be caused by mutations in specific proteins or by dietary habits. Leads to a buildup of uric acid in the blood and precipitates of urate crystals in the joints.
Depression
Diagnosed by behavioral changes, can be treated with a variety of pharmacologic agents and counseling therapy
Obesity
Long-term effects of obesity affect the cardiovascular system and may lead to metabolic syndrome
Insulin resistance
Kwashiorkor
Protein and mineral deficiency even though normal amount of calories in the diet. Leads to marked hypoalbuminemia, anemia, edema (appearance of potbelly), loss of hair, and other indications of tissue injury
Levels decreased: serum albumin
Marasmus
Prolonged calorie and protein malnutrition
Osteoporosis/osteomalacia
Calcium-deficient diet leading to insufficient mineralization of the bones, which produces fragile and easily broken bones. Osteoporosis also runs in families
Iron-deficiency anemia
A low blood vitamin B12 level can be caused by decreased intake, absorption, or transport, but usually takes several years to develop because of large total body stores. Serum albumin was 3.2 g/dL (reference range = 3.5 to 5.0 g/dL), which is an indicator of protein malnutrition, liver disease, or both
Peripheral neuropathy
Vitamin E deficiency
Malnutrition
Reduced nutrient uptake may be caused by genetic mutation in specific proteins or dietary habits leading to reduced nutrient intake. May lead to increased ketone body production and reduced liver protein synthesis
Hypercholesterolemia
Elevated cholesterol as a result of mutation within a specific protein or excessive cholesterol production/intake
Hyperglycemia
High blood glucose levels owing to either mutations in specific proteins or tissue resistance to insulin
Hyperlipidemia
High levels of blood lipids, which may be caused by mutations in specific proteins or ingestion of too many calories
Starvation
When we fast for 3 or more days, we are in a starved state. Muscle continues to burn fatty acids but decreases its use of ketone bodies. As a result, the concentration of ketone bodies rises in the blood to a level at which the brain begins to oxidize them for energy. The brain then needs less glucose, so the liver decreases its rate of gluconeogenesis. Consequently, less protein in muscle and other tissues is degraded to supply amino acids for gluconeogenesis. Protein sparing preserves vital functions for as long as possible. Because of these changes in the fuel utilization patterns of various tissues, humans can survive for extended periods without ingesting food
Salicytate overdose
Caused by aspirin
Complex effects on respiratory center and basic metabolism, causing alterations in acid/base management, among other effects. Leads to impaired renal function
Hyperventilation
Complex effects on respiratory center and acid/base management. Leads to respiratory alkalosis
Diabetic ketoacidosis
Free fatty acids leave her adipocytes (fat cells) and are converted by the liver to the ketone bodies acetoacetic acid and β-hydroxybutyric acid. These compounds are weak acids that dissociate to produce anions (acetoacetate and β-hydroxybutyrate, respectively) and hydrogen ions, thereby lowering her blood and cellular pH below the normal range. As these acids accumulate in the blood, a metabolic acidosis known as diabetic ketoacidosis (DKA) develops
What occurs during diabetic ketoacidosis as a compensatory mechanism?
Kussmaul breathing
What isozyme can be used to detect an MI?
Creatine kinase -> MB