Test #2 updated

genome

a complete set of genes or material present in an organism

Down syndrome

chromosomal abnormality (trisomy 21)
1 in 800 occurrence
Chances increase with maternal age
usually caused by an error in cell division

Turner syndrome

Monosomy of the X chromosome
Found only in females
Short stature, webbing of neck
Usually sterile
Highly lethal during gestation, only .5% survive

Klinefelter Syndrome

A chromosomal disorder in which males have an extra X chromosome, making them XXY instead of XY
Moderate degree in cognitive impairment (learning disabilities, delayed speech, and language development)
Have male appearance, but usually sterile
50% result from nondisjunction from mother's X chromosome
Frequency rises with increasing maternal age

Fragile X Syndrome

Breaks/gaps located on the long arm of the X chromosome
Cognitive impairment/delay
Second most common genetic disorder
Affects both males and females but more often in males

Penetrance

How often a gene is expressed

Expressivity

Gene is always expressed but some people have more severe problems than others

Autosomal Dominant

A single allele from the affected parent is transmitted to an offspring regardless of sex
One copy of the altered gene in each cell is sufficient to cause the disorder
50% chance of transmission
When dominate paired with recessive, dominate will always be expressed

Huntington disease

A progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of cognition
Autosomal dominant
Mutation in HTT gene

Autosomal recessive

Trait can only be expressed when both alleles are present
May skip a generation
25% chance of transmission
Unaffected parents do not have trait but can transmit to child
Found equally in both males and females
ex: blood type O, cystic fibrosis, sickle cell

Cystic Fibrosis

Abnormal thick and sticky mucus in airways, leading to severe problems with breathing and bacterial infections in the lungs; can cause chronic coughing, wheezing, and inflammation and build up of scar tissue
Autosomal recessive pattern

Sex-linked pattern

XY\=male
XX\=female
X linked recessive genes have dominant expression in males and recessive expression in females
Incident of trait higher in males
trait cannot be passed from father to son but can be passed from father to daughter
Female carriers have 50% risk of passing to their children

Hemophilia

Sex-linked
a bleeding disorder that slows the blood clotting process
More common in males than females because gene is located on the X chromosome

role of nursing in clinical genetic care

Assess medical history
Identify genetic concerns
Provide genetic education
Assess clients health beliefs and practices

Mitochondrial disease

inherited changes in mitochondrial DNA can cause problems with growth, development, and function of the body's systems
Also prone to somatic mutations

Epigenetics

the Study of heritable changes in gene expression that does not involve changes to the underlying DNA sequence.

Pharmacogenetics

The study of how genetic variations affect an individual's responses to pharmacotherapy at the level of the whole genome
Causes Adverse Drug reactions
- Co-administration of drugs, lifestyle, age, disease status, organ function, concomitant therapy, diet
-genetic variations include drug metabolizing enzymes, drug transporters, drug targets

Normal Platelet count

150,000-450,000 mm3

Normal hemoglobin

13-18 g/dl

Neutrophils

2500-7000 per mm3

Cancer

A group of disease characterized by uncontrolled growth and spread of abnormal cells

Oncology

The study of cancer and its treatment

Neoplasm

new growth (tumor)

benign neoplasm

well-differentiated and resemble the cells they replace but lost ability to control growth (proliferation)

Malignant neoplasm

less differentiated and have lost ability to control growth (proliferation)

Differentiation

process where new cells acquire structural, microscopic and functional characteristics of the cells they replace
Healthy cells look/act like the cells they replace
Cancer cells no not look/act like the cells they replace

Anaplastic

loss of cellular differentiation; tissues do not look the same
Higher degrees of anaplasia, the higher the grade of tumor

Pleomorphism

variation in size and shape

proliferation

process of cell division and cell replacement when old cells die
- neoplasms have genetic changes that allow excessive and uncontrolled growth

Benign Tumor

Grow slowly
Microscopically well-differentiated with a low mitotic index
well-defined capsule
Well differentiated
No invasive
Does not metastasize

Malignant tumor

Grow rapidly
Have a high mitotic index
Poorly differentiated
Not encapsulated
Invade local structures and tissues
Spread distantly through blood stream and lymphatics

Cancer Autonomy

Lacks contact inhibition
Evades apoptosis (programed cell death)

Cancer Anaplasia

Lack of cell differentiation
Various sizes and shapes (pleomorphism)
Unable to function normally

Cancer Immortality

Evades apoptosis
normal cells cannot divide indefinitely; cancer cells switch on telomerase which maintains telomeres, resulting in an ability to divide indefinitely
They create new blood supply

Cancer invasion

Invade and infliltrate the surrounding tissues
secrete enzymes that break down basement membranes surrounding extracellular matrix

Seeding of cancer cells

"breaking" open the tumor causing cancer cells to leak into the peritoneal cavity; can happen during surgery

In situ

cancer has not yet broken through the basement membrane

Carcinoma

A pre-invasive tumor commonly found in cervix, skin, oral cavity, esophagus, bronchus, stomach, endometrium

Metastasis

The development of a secondary tumor tumor in a location distant from primary tumor
Cancer cell histology resembles primary tumor
Cells break off and travel in lymph or blood

Angiogenesis

Tumors are dependent on nutrients and oxygen and have a higher metabolic rate
have ability to form new blood vessels by secreting growth factors

Neovascularization

proliferation of vascular endothelium and growth of blood vessels into tumor

Factors influencing cancer development

Genetics
Nutrition, smoking, alcohol, activity level
air quality, radiation, sun exposure
immune system, inflammation, metabolic process

Grade 1 tumor

low grade, well-differentiated

Grade 2 tumor

intermediate grade, moderately differentiated

Grade 3 tumor

High grade, poorly-differentiated

Grade 4 tumor

Anaplastic

TNM System

most widely used cancer staging system
Looks at tumor, lymph nodes, metastasis

T (of TNM)

Refers to size and extent of the primary tumor
Higher the number the larger the tumor and the more it may have grown

N (of TNM)

Refers to the number of nearby lymph nodes that also have cancer
The higher the number the greater the extent of the lymph node involvement

M (of TNM)

refers to whether the cancer has metastasized
X\=can't be measured
0\=no spread
1\=has spread to other parts of the body

Carcinoma

cancer that originates in epithelial cells

adenocarcinoma

cancer that forms in ductal or glandular structures (breast cancer)

Sarcoma

cancer that forms in connective tissue, muscle, or bone tissue

lymphoma

cancer that forms in lymphatic tissue
-compromises ability to fight infection
2 classifications
- Hodgkin's (reed-sternberg cells present_
- non-hodgkin's (B and T cells in lymph nodes)

Leukemia

cancer that forms in blood forming cells
-usually an increase in the number of leukocytes in the bone marrow
4 main groups
-chronic lymphocytic
- acute myeloid
- chronic myeloid

clinical manifestations of cancer

Pain
Fatigue
Cachexia (alterations in normal metabolism of CHO resulting in weight loss and weakness)

immunotherapy

use's person's own immune system to fight cancer

Radiation therapy

uses beams of intense energy to kill cancer cells

Brachytherapy

procedure involving the placement of radioactive material in the body

Principles of chemotherapy

Cure, control , palliation
causes lethal cytotoxic event or apoptosis of cancer cells, generally directed at building blocks essential to cell replication

Bevacizumab (Avastin)

Angiogenesis inhibitors
- monoclonal antibody, vascular endothelia growth factor inhibitor
MOA: binds to VEGF, preventing endothelial cell proliferation and formation of new blood vessles, suppresses tumor growth
Use: colorectal cancer, lung cancer, glioblastoma, renal cancer
Adverse effects: GI perforation, hemorrhage, arterial thrombotic events, hypertensive crisis
Nursing care: monitor adverse effects, infusion reaction, have patient report dyspnea or edema or rash

Cyclophosphamide (Cytoxan)

Alkylating Agent
MOA: attaches to DNA and disrupts replication, cell death occurs when the cells attempts to divide
Use: leukemia, multiple myeloma
Adverse effects: Toxic to tissues with high growth fraction
- alopecia
- fertility issues
- N/V, anorexia, diarrhea, mucositis, stomatitis
- thrombocytopenia, anemia, leukopenia
Nursing considerations: may be toxic to heart and kidney
- risk of hemorrhagic cystitis
- severe infection
-Vesicant
- Monitor CBC
- interaction with St. John's wort

Methotrexate

Antimetabolite
MOA: closely resembles normal folic acid metabolites and acts as "counterfiet" to fool cell and stop cell division
Use: acute lymphatic leukemia, caner of colon, breast, stomach, and pancreas
-rheumatoid arthritis
-ectopic pregnancy
Adverse effects:
- acute renal failure, bone marrow suppression, anemia, hemorrhage, infections, neutropenia
Nursing care: monitor for adverse reactions
-discuss signs/symptoms of neutropenia

Fluorouracil (5-FU)

Antineoplastic antimetabolite
MOA: closed resembles normal pyrimidine metabolite limiting precursors for DNA and RNA biosynthesis
Use: anal, bladder, colon, pancreatic, and stomach cancer
Adverse effects: mouth sores
-N/V, diarrhea
-numbness, pain, tingling in hands and feet
-alopecia
Nursing considerations: Hazardous agent, vesicant
-monitor CBC w/platelet count

Doxorubicin (Adriamycin)

Antitumor antibiotics
MOA: inhibits DNA and RNA synthesis and results in cell death
Use: solid tumors, ovarian cancer, multiple myeloma, kaposi's sarcoma, hodgkin's disease, non-hodgkin's lymphoma, leukemia, and many other cancers
Adverse effects: bone marrow depression, N/V, alopecia, stomatitis, HF, septic shock
Nursing considerations: monitor for septicemia reactions at injection site
-BBW: myelosuppression, cardiotoxicity, HF, and arrythmias

Vincristine (Oncovin)

vinca alkaloids
MOA: blocks cellular mitosis, decreased cell replication, interferes with cell division
Use: in combo for hodgkin's, non-hodgkin's, leukemia, and wilms tumor
BBW: vesicant, avoid extravasiation
Nursing considerations: constipation, paralytic illeus, intesinal nercrosis/perforation possible
-nervous system toxicity: peripheral neropathy, sensory loss, weakness, numbness, tingling, decreased reflexes

Tamoxifen (Nolvadex)

hormone antagonist
MOA: blocks estrogen receptors in some tissues and slows tumor growth
Use: metastatic breast cancer
Adverse effects: not cytotoxic
- N/V, hot flashes, hypercalcemia, jaundice, vaginal dryness
-BBW: increased incidence of uterine or endometrial cancers, stroke and pulmonary emboli

Filgrastim (Neupogen)

Cytoprotectant Drug
Leukopoietic growth factor
MOA: increases neutrophil production and enhances phagocytic and cytotoxic functions of existing neutrophils
Uses: chemotherapy-induced neutropenia, decreases risk of infection
Adverse effects: bone pain, leukocytosis
Nursing considerations: Do not give within 24 hrs of chemotherapy
-monitor CBC prior to treatment and twice weekly with filgrastim

Oprelvekin (Neumega)

Thrombopoietic growth factor
Cytoprotectant Drug
MOA: stimulates the production of platelets
Use: prevention of severe thrombocytopenia following myelosuppressive chemotherapy
BBW: hypersensitvity reactions, including anaphylaxis has been reported
Nursing considerations: reduces need for platelet transfusions
-contraindicated in patients with cancers of myeloid origin
-adverse effects include fluid retention

Epoetin Alfa (epogen)

Cytoprotectant Drug
Erythropoiesis stimulating drug
MOA: Stimulates the production of RBC's in bone marrow when matured, results in elevated hemoglobin and hematocrit
Use: anemia due to chemotherapy
Side effects: hypertension, seizures, thrombosis
-headache, nausea, angina
BBW: thromboembolic events
Contraindications with myeloid leukemia bay increase tumor growth

Cyanocobalamin (vitamin B12)

Vitamin
Side effects: anaphylaxis, urticaria
Use: vitamine B12 deficiency, pernicious anemia, hemorrhage, renal and hepatic disease
Nursing considerations: monitor iron and folate levels
-do not mix with other solutions in syringe
-monitor K+ levels
-may need monthly injections

Metoclopramide (Reglan)

Antiemetics
GI stimulant
MOA: blocks dopamine receptors and serotonin receptors in chemoreceptor trigger zones of the CNS enhances motility and accelerated gastric emptying
Uses: GERDS, chemotherapy-induced N/V, diabetic gastroparesis, delayed gastric emptying; persistent hiccups
Adverse effects: EPS effects with chronic use, restlessness, anxiety
-BBW: may cause tardive dyskinesia, often irreversible
Nursing considerations: monitor CNS for EPS, avoid activities requiring mental alertness, take 30 min before meals

Ondansetron (Zofran)

Antiemetics
Serotonin receptor antagonist
Uses: indicated for prevention of CINV, radiation-induced emesis, post-operative N/V, hyperemesis gravium
MOA: blocks 5-HT3 receptors on vagal nerve terminals and chemoreceptor trigger zone
Side effects: headache, sedation, diarrhea, constipation, transient elevations in liver enzymes
Nursing considerations: more effective at preventing CINV than suppressing; give on schedules basis 30 min before chemo
-risk for ECG changes

Pancreatitis

Auto digestion of pancreatic tissue causing fibrosis
Pathopys: obstruction of outflow of pancreatic digestive enzymes caused by bile and pancreatic duct obstruction
-usually mild and reversible
Risk factors: cholelithiasis, alcoholism, obesity, PUD, smoking, genetics, cystic fibrosis
Treatment: Goal is to stop autodigestion and prevent systemic complications
-narcotics for pain
-antibiotics for infection
-gastric suctioning
-medications to decrease gastric acidicty

Acute Pancreatitis symptoms

Fever and increased WBCs
left upper quadrant pain
Nausea and vomiting
Hyperglycemia
Jaundice if bile duct is obstructed
Labs: increased amylase, lipase, WBC, blood glucose, bilirubin

Pancreatic cancer

4th leading cause of death in US
Risk factors: \>50 years old, cigarette smoking, diabetes, and chronic pancreatitis
Manifestations: Mass/tumor causing obstruction
-pain, bile obstruction, metastasis
Diagnosis: CA 19-9 (lab)
-ultrasound, ERCP

Pancrealipase (pancreaze)

Class: Pancreatic enzyme
MOA: enzyme acts locally in GI tract to help digest fat
Use: replacement therapy for patients with insufficient pancreatic exocrine secretions
Nursing care: do not crush (enteric coated tablets)
-powder formula can be sprinkled on food
-give 1-2 hrs before or with meals

cholelithiasis

Obstruction caused by gallstones
-usually composed of cholesterol and bilirubin
Risk factors: Female, obese, over 40 years of age, multiple pregnancies
-use of oral contraceptives
-rapid weight loss
-Native American (genetic)
2 types
-Cholesterol crystals: bile is supersaturated with cholesterol and stagnant bile forms stones
-Pigmented stones: increased levels of bilirubin that binds with calcium
Treatment: medication or surgery

symptoms of cholelithiasis

Usually Asymptomatic
Abdominal pain
Jaundice (indicates blockage in common bile duct)
Heart burn/flatulence
Indigestion
Food tolerance (especially to fats)
Pain

Ursodiol (Actigall)

Class: Gallstone dissolution agent
Indications: used to dissolved gallstones in patients who do not need to have gallbladder removed
MOA: decreasing production of cholesterol and by dissolving the cholesterol in bile so that it cannot form stones
Nursing care: Give orally 2-4 times a day
-do not give with aluminum-based antacids
Side effects: dizziness, headache, back pain, nausea, constipation, diarrhea

Cholecystitis

Inflammation of the gallbladder
Usually caused by presence of a gallstone lodged in ducts (gallbladder distended and inflamed)
Can result in ischemia, necrosis, and perforation due to pressure

symptoms of cholecystitis

epigastric pain, fever, guarding, anorexia, N/V, rebound tenderness
Increased WBC
Increased alkaline phosphatase
Increased serum total bilirubin

Hepatocytes

line lobules along with kupffer cells and filter incoming blood

Liver lobules

low pressure vascular channels that receive blood from the hepatic artery and portal vein at the periphery of lobules and deliver it into central veins

prehepatic jaundice

Excessive destruction of RBCs
-physiological jaundice in newborns
-blood transfusion reactions

intrahepatic jaundice

Inability of the liver to remove bilirubin from the blood, decreased ability to conjugate the bilirubin, dysfunction of bilirubin metabolism
-hepatitis or cirrhosis

posthepatic jaundice

Obstruction of bile flow
-gallstones

normal Bilirubin

0.3-1 mg/dl

Jaundice symptoms

Dark urine (conjugated bilirubin)
Clay colored stools (lack of bilirubin in GI)
Discoloration of skin and sclera
Prutitus

Portal Hypertension

Abnormally high pressure in portal venous system (\>10 mm/hg, normally 3 mm/hg)
Caused by disorders that obstruct blood flow through the portal venous system of the vena cava
Long term consequences: esophagi varices, splenomegaly, ascites, hepatic encephalopathy, high mortality rate

Intraheptic portal hypertension

Problems in the sinusoids
-thrombosis or inflammation
-fibrosis of liver tissue (cirrhosis)
-hepatitis

Posthepatic portal hypertension

venous thrombosis (clot)
-narrowing of portal vein
-right sided heart failure

Esophageal varices

Prolonged, elevated pressure in portal vein causes collateral veins to turn into varices
-thin-walled esophagus can rupture from gastric acid and increased pressure which can cause a fatal hemorrhage
symptoms: painless bleeding, hematemesis
Nursing considerations: no NG tube, keep bp low

splenomegaly

enlargement of the spleen due to back-up of blood into the splenic venous system
Can cause: anemia, thrombocytopenia, leukopenia

Ascites

Accumulation of fluid In peritoneal space (third-spacing)
causes: cirrhosis
-malnutrition (low serum albumin)
- heart failure
-portal hypertension
Symptoms: weight gain, abdominal distention, increased girth, dyspnea, infection
Watch for respiratory complications from pressure on diaphragm
Treatment: salt restriction, low protein diet
-diuretics
-paracentesis to aspirate fluid
-removal of fluid slowly

Under fill theory

low circulating blood volume activates aldosterone and ADH which causes kidney to retain sodium & water

Hepatorenal Syndrome

Renal failure caused by advanced liver disease
Patho: portal hypertension decreases effective circulating volume, and decreased renal perfusion
Diagnostic: cirrhosis with ascites
-increased serum creatinine, BUN, Urine osmolality
-decreased urine output
-low BP

Hepatic encephalopathy

Ammonia is not converted to urea by a diseased liver
cells in the nervous system are vulnerable to the accumulation of toxins normally metabolized by liver such as BUN and ammonia
Treatment: correct ammonia blood levels
-correct fluid and electrolytes
-eliminate ammonia in gut

Hepatic encephalopathy symptoms

Changes in LOC
Irritability
lethargy
confusion
flapping hands
twitching
stupor
convulsions
coma
death

Neomycin

Class: antibacterial protein synthesis inhibitor
Use: hepatic encephalopathy
MOA: interferes with bacterial protein synthesis which decreased bacteria in gut that produce ammonia
Nursing care: monitor for adverse effects
-asses lab values for elevated BUN, AST, ALT, serum creatinine ammonia
-BBW: kidney damage, neuromuscular blockade, respiratory paralysis, neurotoxicity, ototoxicity