NSG 533/ NSG533 Exam 2 V2 – Advanced
Pharmacology Guide| Wilkes (Latest 2026/ 2027
Update) 100% Verified Questions & Answers |
Grade A
Sex-linked traits
Traits that are inherited with sex chromosomes
Autosomal traits
Traits that are inherited with non-sex chromosomes
X-linked recessive disorders
Genetic variants on the X chromosome; more common in males. Both copies of the gene must be
altered in female, but only one copy must be altered in males. Ex: colorblindness.
X-linked dominant disorders
Genetic variants on the X chromosome. Only one altered copy of the gene is needed to cause the
condition in both males and females. Very rare.
Autosomal dominant disorders
Caused by variants in genes found on non-sex chromosomes. Only one altered copy of the gene
is needed to cause an effect. Ex: Huntington dx.
Autosomal recessive disorders
Caused by variants in genes found on non-sex chromosomes. Both copies of the gene must be
altered to cause an effect. Ex: cystic fibrosis.
Lack of variability in a species may lead to more
autosomal recessive disorders
Define heterozygote advantage
.
An individual with one mutated copy of a gene and one normal copy may have advantages
against certain pathogens without suffering from symptoms of the disease. Explains why certain
diseases stay prevalent over history in geographical regions or cultures.
Give two examples of the heterozygote advantage
Tay-Sachs heterozygote advantage against tuberculosis, and Sickle Cell heterozygote advantage
against malaria.
Mutations in the tumor suppressor gene BRCA 1 and 2 may lead to .
breast and ovarian cancers
Inactivation of tumor suppressor gene APC may result in .
colorectal cancers
How do mutations in the retinoblastoma (Rb) gene lead to cancer?
Rb monitors antigrowth cellular signals (like contact with other cells) and blocks activation of
the growth/division phase in the cell cycle. Mutations lead to perisistant growth.
Genotype
The unique sequence of DNA
Phenotype
The detectable expression of the genotype, or clinical presentation
Penetrance
The proportion of individuals with a disorder-causing mutation who actually exhibit clinical
symptoms. Ex: Huntington dx is autosomal dominant, and therefore has a 100% penetrance.
Cosanguinity
Genetic relatedness between individuals descended from at least one common ancestor.
Cosanguineous relationships result in decreased variability of a population.
Anticipation
A tendency of certain genetic disorders to present earlier in life and more severely as they are
passed down in generations. Ex: grandchild is severely affected in infancy while the grandparent
was only mildly affected in adulthood.
CRISPR-Cas-9 gene editing
DNA "scissors" that can be used to delete and insert segments of DNA, potentially curing genetic
disorders. Many ethical implications.
Signs and symptoms of acute viral hepatitis
Fever, fatigue, loss of appetite, nausea/vomiting, abdominal pain, dark urine, clay-colored stools,
joint pain, jaundice, elevated AST/ALT
Transmission of Hepatitis A
Fecal-oral route, 28-day incubation period, soley an acute illness with supportive treatment.
Transmission of Hepatitis B
Via mucosal contact with infected blood or body fluid, typically sexual activity, IV drug use and
hemodialysis
Transmission of Hepatitis C
Blood and body fluids, typically through IV drug use, hemodialysis, nasal cocaine, transfusions,
perinatal, unregulated tattoos, and (uncommonly) sexual activity.
Transmission of Hepatitis D
Requires an associated HBV infection for transmission. Commonly IV drug use.
To be diagnosed with chronic viral hepatitis, the virus must have been present for at least .
six months
Signs and symptoms of chronic hepatitis B
Hepatosplenomegaly, spidere telangiectasis (vascular abnormality), jaundice, ascites, and
peripheral edema.
What are the established risk factors for NAFLD?
Obesity, metabolic syndrome, genetic risks, and family histry.
What are the emerging risk factors associated with NAFLD?
PCOS, hypothyroidism, OSA, hypopituitarism, hypogonadism, pancreato-duodenal resection
List common causes of NAFLD
Hepatitis C, Wilson's disease, lipodystrophy, TPN, medications (amiodarone, methotrexate,
tamoxifen, steroids), Reye's syndrome, acute fatty liver of pregnancy, HELLP syndrome,
malnutrition
What are the most common clinical manifestations of NAFLD?
Elevated LFTs, fatigue, pain in the RUQ, central obesity, hepatomegaly, acanthosis nigricans,
and presence of dorsocerviccal hump.
What are the s/s of decompensated cirrhosis?
Ascites, icterus, nail changes, splenomegaly, asterixis, variceal bleeding, and hepatic
encephalopathy. Labs: platelets 150,000, elevated INR, and low albumin.
What test is diagnostic of Hep A?
Anti-HAV IgM
What test is diagnostic of Hep B?
HBsAg (surface antigen)
What test is diagnostic of Hep C?
Anti-HCV with reflex PCR
What test is diagnostic of Hep D?
Anti-HDV IgM (acute) or IgG (past exposure)
Type I diabetes is characterized by .
autoimmune destruction of pancareatic beta cells and total lack of insulin production
Type II diabetes is characterized by .
insulin resistance and a defect in pancreatic beta cell secretion
Name the 3 factors contributing to insulin resistance
1) impaired binding to receptors 2) fewer receptors 3) post-receptor defects
Stage I of Type II diabetes progression
Pancreatic beta cells make more insulin (hyperinsulinemia) to combat insulin resistance, which
results in temporary restoration of normal glucose homeostasis
Stage 2 of Type II diabetes progression
Fat lipolysis begins, increased free fatty acids. More insulin resistance and impaired glucose
uptake. Hyperinsulinemia continues but beta cells become exhausted. Postprandial
hyperglycemia, although fasting blood glucose is fine.
Stage 3 of Type II diabetes progression
Even more free fatty acids, even more insulin resistance, even more hyperinsulinemia. More
gluconeogenesis from liver, resulting in postprandial and fasting hyperglycemia. There's down
regulation of insulin receptors and impairment of post-receptor events. Accumulates in major
hyperglycemia, eventual decreased insulin secretion, and diagnosis of Type II diabetes.
List the signs and symptoms of diabetes
Polydipsia, polyuria, polyphagia. Also dry mouth, drowsiness, frequent bed wetting, stomach
pains (ketone bodies), and possible weight loss (breakdown of fat).
What cells don't require insulin for glucose to enter?
Hepatocytes, neurons, erythrocytes, and endothelial cells
What are the normal results of an oral glucose tolerance test (75g glucose)?
Fasting blood glucose: 80-100
One hour later: 120
Back to baseline: within two hours
What are the diagnostic results for prediabetes?
Fasting blood glucose: 100-125
Two hours after OGTT: 140-199
HbAlc: 5.7-6.4%
What are the microvascular complications of diabetes?
Retinopathy, neuropathy, and nephropathy (cells do not require insulin to transport glucose)
What are the macrovascular complications of diabetes?
Accelerated cardiovascular disease, accelerated peripheral vascular disease, and stroke
The absence of
leaves cells in the retina, kidney, and nervous tissue susceptible to
intracellular oxidative stress.
glutathione
Chronic hyperglycemia results in , which alters protein structures and results in the
development of
that interfere with structure and function of the cell.
glycation; irreversibly advanced glycation end products (AGEs)
List three prevailing theories behind the pathogenesis of hyperglycemia complications
Lack of glutathione and increased intracellular oxidative stress, glycation end products (AGEs),
and altered second messenger systems that activate protein kinase C
Why are diabetics taking SQ insulin or oral agents at risk for hypoglycemia?
Insulin and glucagon normally work together in balance. But when a pt has SQ insulin or oral
agents on board, insulin can't naturally back off and glucagon can't provide enough of a response.
Signs and symptoms of hypoglycemia
Sweating, trembling, dizziness, mood changes, hunger, headaches, blurred vision, and extreme
tiredness and paleness.
What are three main end results of DKA?
Loss of water/electrolytes and dehydration, metabolic acidosis, and net loss of body K+
What is a normal blood osmolality?
280-294 mOsm
What primarily differentiates hyperglycemia hyperosmolar syndrome from DKA?
The small amount of insulin available in HHS prevents lipolysis and the formation of ketones, so
there is no metabolic acidosis. HHS is a longer, slower progression that mimics the imaired
carbohydrate metabolism from insulin deficiency in DKA.
What are the main steps in the pathogenesis of HHS?
Insulin deficiency, decreased glucose utilization, glycogenolysis from the liver, hyperglycemia,
glycosuria and osmotic diuresis, loss of H2O/electrolytes and dehydration, hyperosmolar state
(up to 400 mOsm), shock, coma, and death.
What is the connection between nephropathy and diabetes?
The glomerular capsule has many endothelial cells, which don't require insulin for glucose
transport. Hyperglycemic states cause damage.
Signs and symptoms of hyperthyroidism
Tachycardia, palpitations, wide pulse pressure, arrythmias (afib), systolic murmurs, possible
heart failure, warm, moist skin with velvety texture, palmar erythema, vitiligo, fine and silky hair
texture, temporal baldness, prominent stare, lid lag, failure of convergence, failure to wrinkle
brow, tremors, excessive swewating, heat intolerance, hyperreflexia, weight loss, proximal
muscle weakness, emotional lability, anorexia, n/v/d, menstrual abnormalities
Signs and symptoms of hypothyroidism
Lethargy, constipation, cold intolerance, weight gain, arthralgias, deep hoarse voice, general
weakness, dry hair that falls out, cool and tough doughy skin, obesity, diminished auditory
acuity, cardiomegaly, prolonged relaxation phase of deep tendon reflexes
Normal TSH level
0.4-4.5 mIU/mL
Normal T4 level
5.0-11.0 ug/dL
Lab results for primary hyperthyroidism
Low TSH and high T4
Etiology of Grave's disease (hyperthyroidism)
Autoimmune process in which antibodies act like TSH and stimulate the thyroid gland, resulting
in a diffuse goiter, exophthalmos, and dermopathy
Etiology of Toxic Multinodular Goiter (hyperthyroidism)
The patient had a past goiter in which certain areas are now nodular and secreting thyroid
hormone independently
Etiology of Thyroid Adenoma (hyperthyroidism)
One nodular spot in the thyroid is secreting thyroid hormone
Possible etiologies of hypothyroidism
Congenital defects, idiopathic, iodine deficiency, drugs (lithium), chronic thyroiditis, removal of
pituitary gland
Etiology of Hashimoto's Thyroiditis (hypothyroidism)
Autoimmune disorder in which the body makes antibodies that attack the cels of the thyroid.
Most common symptom is a goiter.
Which is the more metabolically active thyroid hormone?
T3. 80-90% of T4 is converted to T3 in the peripheral tissues. Only free (unbound) hormone is
responsible for activity.
A primary cause of thyroid hormone disruption is an issue with the
. Lab results
.
Thyroid; Low T4 but high TSH and TRH.
A secondary cause of thyroid hormone disruption is an issue with the
. Lab results
.
Anterior pituitary; Low T4 and TSH, but high TRH.
A tertiary cause of thyroid hormone disruption is an issue with the
. Lab results
.
Hypothalamus; Low T4, TSH, and TRH.
List causative and risk factors for the developnment of cancer.
Tobacco, alcohol, obesity, red meat, post-menopause, infections (STIs), ionizing radiation,
occupational hazards, reproduction, sun exposure and tanning beds, and lack of fruits and
vegetables, fiber, and physical exercise.
What are the three leading causes of cancer deaths in men?
Lung and bronchus, prostate, and colorectal.
What are the three leading causes of cancer deaths in women?
Lung and bronchus, breast, and colorectal.
List characteristics of benign tumors.
1) Well-differentiated
2) Glow slowly in a well-defined capsule; not invasive
3) Low mitotic index
4) Do not metastasize
What is a benign tumor?
Non-cancerous abnormal growth that serves no physiologic function. Only life-threatening if it
enlarges in a critical location. Ex: lipoma, adenoma, etc.
List characteristics of malignant tumors.
1) Poorly differentiated (anaplasia)
2) Grow rapidly
3) Not encapsulated
4) High mitotic index
5) Capable of metastasizing and spreading through blood vessels and lymph
What are two major characteristics of cancer cells in the laboratory?
1) Do not exhibit contact inhibition and continue to divide, piling up on each other, and 2) are
anchorage independent and can proliferate suspended in soft agar
Anaplasia
The loss of cellular differentiation, a microscopic hallmark of cancer cells.
What are proto-oncogenes?
Genes that encode components of receptor-mediated pathways designed to regulate normal
cellular proliferation.
Cancerous cells characteristically express mutated or overexpressed proto-oncogenes, which are
referred to as
.
oncogenes
Oncogenes are
in cancers, and tumor suppressor genes must be
to occur.
activated; inactivated
to allow cancer
"the guardian of the genome"
p53 tumor suppressor gene
TP53 monitors intracellular signals related to stress and activates
for the maintenance of genomic integrity and DNA repair
caretaker genes
which are responsible
List common tumor suppressor genes that, if mutated, may result in cancer
BRCA1 (breast cancer), APC (familial adenomatous polyps), p53, and RB1 (retinoblastoma)
List major mechanisms of genomic instability in the development of cancer
1) mutations in caretaker genes and tumor suppressor genes 2) epigenetic silencing altering the
promoter region region of tumor suppressor genes 3) bad microRNAs (oncomirs) that decrease
the stability and expression of other genes 4) chromosome instability
In cancer cells, the
gene is switched on, producing an enzyme that rebuilds the telomere
caps. As a result, cancer cells (like germ cells and adult stem cells) are . This mechanism
of cancer cell survival is known as .
telomerase; immortal; resisting apoptosis
In what ways can cancer cells prevent the activation cytotoxic T cells, thus hiding from the
immune system?
1) By not displaying an antigen on the MHC protein 2) by getting rid of the MHC protein
entirely 3) by producing immunosuppressive proteins
Carcinoma in situ (CIS)
Preinvasive epithelial tumors that have not yet penetrated the local basement membrane; not
malignant. Three fates: remain stable for a long time, progress to invasive and metastatic cancers,
or regress and disappear. If caught early, could prevent metastasis.
Cancer cells utilize
for energy metabolism, a competitive advantage that allows for a
more efficient production of building blocks for rapid cell growth
aerobic glycolysis (glycolysis even in the presence of adequate oxygen, also known as the
Warburg effect)
Angiogenesis and cancer cell survival
Tumor cells can grow their own blood supply by secreting growth factors that recruit new
vascular endothelial cells and initiating the proliferation of existing blood vessels
A prerequisite for metastasis is .
Invasion (local spread) of the primary tumor. Includes recruitment of macrophages and other
cells that digest the connective tissue capsule and other structural barriers.
What are tumor markers? How do we use them?
Substances produced by both benign and malignant cells that either are present in or on tumor
cells, or are found in blood, spinal fluid, or urine. They could be hormones, enzymes, genes,
antigens, and antibodies. Ex: prostate-specific antigen (PSA). We can collect and measure this
data to aid in diagnosis or treatment evaluation.
TNM Staging System
T = Tumor spread/size N = Node involvement M = Metastases
Tumor grading
G1: well differentiated (low grade)
G2: moderately differentiated (intermediate grade)
G3: poorly differentiated (high grade)
G4: undifferentiated (high grade)
What are paraneoplastic syndromes?
Symptom complexes triggered by the release of biologic substances from the tumor (ex:
hormone) or immune response triggered by the tumor (ex: antibodies). This might result in the
earliest symptoms of an unknown cancer.
Examples of paraneoplastic syndromes (clinical syndrome, causal mechanism, and underlying
cancer)
1) Hypoglycemia caused by insulin released from fibrosarcoma and hepatocellular carcinomas
2) Hypercalcemia caused by parathyroid hormone-related protein released from squamous cell
carcinoma of the lung, breast and renal carcinoma
3) DVT/PE caused by mucins that activate clotting released from pancreatic and bronchogenic
carcinomas
